Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	G	C	tCw	wGa	tC	Ga	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	g_counts	c_counts	tcw_counts	wga_counts	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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	HGVSc	HGVSp	HGVSp_Short	Transcript_ID	Exon_Number	t_depth	t_ref_count	t_alt_count	n_depth	n_ref_count	n_alt_count	all_effects	Allele	Feature	Feature_type	One_Consequence	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	ALLELE_NUM	DISTANCE	TRANSCRIPT_STRAND	SYMBOL	SYMBOL_SOURCE	HGNC_ID	BIOTYPE	CANONICAL	CCDS	ENSP	SWISSPROT	TREMBL	UNIPARC	RefSeq	SIFT	PolyPhen	EXON	INTRON	DOMAINS	GMAF	AFR_MAF	AMR_MAF	ASN_MAF	EAS_MAF	EUR_MAF	SAS_MAF	AA_MAF	EA_MAF	CLIN_SIG	SOMATIC	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	IMPACT	PICK	VARIANT_CLASS	TSL	HGVS_OFFSET	PHENO	MINIMISED	ExAC_AF	ExAC_AF_Adj	ExAC_AF_AFR	ExAC_AF_AMR	ExAC_AF_EAS	ExAC_AF_FIN	ExAC_AF_NFE	ExAC_AF_OTH	ExAC_AF_SAS	GENE_PHENO	FILTER	CONTEXT	src_vcf_id	tumor_bam_uuid	normal_bam_uuid	case_id	GDC_FILTER	COSMIC	MC3_Overlap	GDC_Validation_Status	newbase	effect_idx	newbase_idx	pat_idx	start	end	tum_allele1	tum_allele2	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
APLF	200558	BI	GRCh38	chr2	68526191	68526191	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcagaacaagacacAggagaagagtgcaaaaatac	9	8	1	4	rs762551893	byCluster;byFrequency	TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.753A>T	p.=	p.T251T	ENST00000303795	6/10	64	60	4	59			APLF,synonymous_variant,p.T251T,ENST00000303795,NM_173545.2,c.753A>T,LOW,YES,,,1;APLF,upstream_gene_variant,,ENST00000471727,,,MODIFIER,,,,1;APLF,synonymous_variant,p.T251T,ENST00000445692,,c.753A>T,LOW,,,,1;APLF,3_prime_UTR_variant,,ENST00000529851,,c.*127A>T,MODIFIER,,,,1;AC130709.1,downstream_gene_variant,,ENST00000484779,,,MODIFIER,YES,,,-1	T	ENST00000303795	Transcript	synonymous_variant	synonymous_variant	924/3847	753/1536	251/511	T	acA/acT	rs762551893	1		1	APLF	HGNC	HGNC:28724	protein_coding	YES	CCDS1888.1	ENSP00000307004	Q8IW19		UPI0000074578	NM_173545.2			6/10																			LOW	1	SNV	1			1	1.647e-05	1.65e-05	0	0	0	0.0001512	1.501e-05	0	0		PASS	GACACAGGAGA	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	T	2	4	1	68526191	68526191	A	T	1	0	0	0	0	0	0	0	1	897	175	7	5		5	APLF	2	68526191	Silent	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		68526191	173667338	1	1											
ARSJ	79642	BI	GRCh38	chr4	113902570	113902570	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggtccaccctctcatatgGgtcggctgtgatgttgaaaa	11	9	1	2	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.1504C>A	p.Pro502Thr	p.P502T	ENST00000315366	2/2	48	26	22	57			ARSJ,missense_variant,p.P502T,ENST00000315366,NM_024590.3,c.1504C>A,MODERATE,YES,deleterious(0.02),probably_damaging(1),-1;ARSJ,3_prime_UTR_variant,,ENST00000509829,,c.*1183C>A,MODIFIER,,,,-1	T	ENST00000315366	Transcript	missense_variant	missense_variant	2371/4657	1504/1800	502/599	P/T	Cca/Aca		1		-1	ARSJ	HGNC	HGNC:26286	protein_coding	YES	CCDS43264.1	ENSP00000320219	Q5FYB0		UPI000003FD84	NM_024590.3	deleterious(0.02)	probably_damaging(1)	2/2		Pfam_domain:PF00884;Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1											PASS	ATATGGGTCGG	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	T	3	4	1	113902570	113902570	G	T	1	0	0	0	0	1	0	0	0	1138	1232	43	5		5	ARSJ	4	113902570	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		113902570	76311985	2	2											
DNAH8	1769	BI	GRCh38	chr6	38860602	38860602	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgggatgtactgatcGtcttgttatcactccattaa	7	8	3	1	rs758868992	byFrequency	TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.5453G>A	p.Arg1818His	p.R1818H	ENST00000359357	41/91	85	77	8	76			DNAH8,missense_variant,p.R2035H,ENST00000327475,NM_001206927.1,c.6104G>A,MODERATE,YES,,probably_damaging(1),1;DNAH8,missense_variant,p.R1818H,ENST00000359357,,c.5453G>A,MODERATE,,,probably_damaging(1),1;DNAH8,missense_variant,p.R2035H,ENST00000449981,,c.6104G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;DNAH8,upstream_gene_variant,,ENST00000394393,,,MODIFIER,,,,1	A	ENST00000359357	Transcript	missense_variant	missense_variant	5707/13864	5453/13473	1818/4490	R/H	cGt/cAt	rs758868992	1		1	DNAH8	HGNC	HGNC:2952	protein_coding			ENSP00000352312	Q96JB1		UPI00003677EB			probably_damaging(1)	41/91																			MODERATE		SNV	2			1	2.471e-05	2.499e-05	0	0	0	0	3.035e-05	0	6.127e-05		PASS	TGATCGTCTTG	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c		COSM5756854;COSM5756855;COSM5756856	True	Unknown	A	3	1	1	38860602	38860602	G	A	1	0	0	0	0	1	0	0	0	4422	1145	40	1		1	DNAH8	6	38860602	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		38860602	131945377	3	3											
LSM1	27257	BI	GRCh38	chr8	38163727	38163727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agacctcggtccttcagggcCtgcactttcaacttctctgc	8	15	3	1	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.345G>C	p.Gln115His	p.Q115H	ENST00000311351	4/4	49	27	22	58			LSM1,missense_variant,p.Q115H,ENST00000311351,NM_014462.2,c.345G>C,MODERATE,YES,deleterious(0.01),benign(0.227),-1;LSM1,3_prime_UTR_variant,,ENST00000520755,,c.*94G>C,MODIFIER,,,,-1;RNU6-323P,downstream_gene_variant,,ENST00000521915,,,MODIFIER,YES,,,-1;RP11-90P5.2,non_coding_transcript_exon_variant,,ENST00000520598,,n.517C>G,MODIFIER,YES,,,1;LSM1,non_coding_transcript_exon_variant,,ENST00000522515,,n.1200G>C,MODIFIER,,,,-1;LSM1,non_coding_transcript_exon_variant,,ENST00000520286,,n.477G>C,MODIFIER,,,,-1;LSM1,3_prime_UTR_variant,,ENST00000523511,,c.*280G>C,MODIFIER,,,,-1	G	ENST00000311351	Transcript	missense_variant	missense_variant	741/1147	345/402	115/133	Q/H	caG/caC		1		-1	LSM1	HGNC	HGNC:20472	protein_coding	YES	CCDS6103.1	ENSP00000310596	O15116		UPI000012E963	NM_014462.2	deleterious(0.01)	benign(0.227)	4/4		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	AGGGCCTGCAC	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	G	3	3	1	38163727	38163727	C	G	1	0	0	0	0	1	0	0	0	8956	680	24	5		5	LSM1	8	38163727	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		38163727	106974909	4	4											
COL14A1	7373	BI	GRCh38	chr8	120212560	120212560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggccagtgatcctgttaCgggacaagaaacaacatgtg	12	8	0	3	rs748226555		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.1580C>T	p.Thr527Met	p.T527M	ENST00000297848	13/48	130	24	106	59			COL14A1,missense_variant,p.T527M,ENST00000297848,NM_021110.2,c.1580C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.832),1;COL14A1,missense_variant,p.T527M,ENST00000309791,,c.1580C>T,MODERATE,,deleterious(0.02),probably_damaging(0.948),1;COL14A1,missense_variant,p.T527M,ENST00000537875,,c.1580C>T,MODERATE,,deleterious(0),probably_damaging(0.916),1;COL14A1,missense_variant,p.T340M,ENST00000434620,,c.1019C>T,MODERATE,,deleterious(0),probably_damaging(0.962),1;COL14A1,missense_variant,p.T284M,ENST00000523142,,c.849C>T,MODERATE,,,,1;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,,n.1814C>T,MODIFIER,,,,1;COL14A1,missense_variant,p.T527M,ENST00000498051,,c.1580C>T,MODERATE,,deleterious(0),probably_damaging(0.916),1	T	ENST00000297848	Transcript	missense_variant	missense_variant	1850/6466	1580/5391	527/1796	T/M	aCg/aTg	rs748226555	1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	deleterious(0.03)	possibly_damaging(0.832)	13/48		PROSITE_profiles:PS50853;Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1	8.237e-06	8.252e-06	0	0	0	0	1.5e-05	0	0		PASS	TGTTACGGGAC	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c		COSM5624723	True	Unknown	T	3	4	1	120212560	120212560	C	T	1	0	0	0	0	1	0	0	0	3459	536	19	1		1	COL14A1	8	120212560	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08	82048833	120212560	24926076	5	5											
REC114	283677	BI	GRCh38	chr15	73559809	73559809	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaatctgcatggggtgcaGaagagttaggccccttccta	11	10	1	2	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.694G>T	p.Glu232Ter	p.E232*	ENST00000331090	6/6	76	69	7	86			REC114,stop_gained,p.E232*,ENST00000331090,NM_001042367.1,c.694G>T,HIGH,YES,,,1;REC114,stop_gained,p.E204*,ENST00000560581,,c.610G>T,HIGH,,,,1;NPTN,downstream_gene_variant,,ENST00000351217,NM_017455.3,,MODIFIER,,,,-1;NPTN,downstream_gene_variant,,ENST00000345330,NM_012428.3,,MODIFIER,YES,,,-1;NPTN,downstream_gene_variant,,ENST00000563691,NM_001161363.1,,MODIFIER,,,,-1;NPTN,downstream_gene_variant,,ENST00000562924,NM_001161364.1,,MODIFIER,,,,-1;NPTN,downstream_gene_variant,,ENST00000565325,,,MODIFIER,,,,-1;NPTN,downstream_gene_variant,,ENST00000561898,,,MODIFIER,,,,-1	T	ENST00000331090	Transcript	stop_gained	stop_gained	722/927	694/801	232/266	E/*	Gaa/Taa		1		1	REC114	HGNC	HGNC:25065	protein_coding	YES	CCDS45296.1	ENSP00000328423	Q7Z4M0		UPI0000161A3A	NM_001042367.1			6/6																			HIGH	1	SNV	1			1											PASS	GTGCAGAAGAG	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	T	4	4	1	73559809	73559809	G	T	1	0	0	0	0	0	1	0	0	13368	943	33	5		5	REC114	15	73559809	Nonsense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08		73559809	28431380	6	6											
PPP4R1	9989	BI	GRCh38	chr18	9550174	9550174	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcgtgcagcttcttcaCcatctcgctgacctgggagg	12	14	3	1	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.2425G>T	p.Val809Leu	p.V809L	ENST00000400556	18/20	56	33	23	66			PPP4R1,missense_variant,p.V809L,ENST00000400556,NM_001042388.2,c.2425G>T,MODERATE,YES,tolerated(1),benign(0.016),-1;PPP4R1,missense_variant,p.V792L,ENST00000400555,NM_005134.3,c.2374G>T,MODERATE,,tolerated(1),benign(0.03),-1;PPP4R1,non_coding_transcript_exon_variant,,ENST00000579609,,n.152G>T,MODIFIER,,,,-1;PPP4R1,downstream_gene_variant,,ENST00000584754,,,MODIFIER,,,,-1;PPP4R1,3_prime_UTR_variant,,ENST00000285124,,c.*2137G>T,MODIFIER,,,,-1;PPP4R1,non_coding_transcript_exon_variant,,ENST00000582594,,n.1675G>T,MODIFIER,,,,-1;PPP4R1,non_coding_transcript_exon_variant,,ENST00000578010,,n.218G>T,MODIFIER,,,,-1;PPP4R1,non_coding_transcript_exon_variant,,ENST00000578329,,n.127G>T,MODIFIER,,,,-1	A	ENST00000400556	Transcript	missense_variant	missense_variant	2499/3925	2425/2853	809/950	V/L	Gtg/Ttg		1		-1	PPP4R1	HGNC	HGNC:9320	protein_coding	YES	CCDS42412.1	ENSP00000383402	Q8TF05			NM_001042388.2	tolerated(1)	benign(0.016)	18/20		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CTTCACCATCT	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	A	3	1	1	9550174	9550174	C	A	1	0	0	0	0	1	0	0	0	12525	507	18	5		5	PPP4R1	18	9550174	Missense_Mutation	SNP	C	TCGA-RZ-AB0B-01A-11D-A39W-08		9550174	70823111	7	7											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	72	44	28	85			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c		COSM52969	True	Unknown	T	3	4	1	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		3118944	55498672	8	8											
SHANK1	50944	BI	GRCh38	chr19	50716751	50716751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacattgagcggccctggaGgcctctaacagaggccaggc	15	12	1	2	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.169C>T	p.Leu57Phe	p.L57F	ENST00000293441	1/23	36	33	3	37			SHANK1,missense_variant,p.L57F,ENST00000293441,NM_016148.2,c.169C>T,MODERATE,YES,,benign(0.031),-1;SHANK1,missense_variant,p.L57F,ENST00000391814,,c.169C>T,MODERATE,,,possibly_damaging(0.791),-1;SHANK1,missense_variant,p.L57F,ENST00000359082,,c.169C>T,MODERATE,,,possibly_damaging(0.51),-1;SHANK1,upstream_gene_variant,,ENST00000483128,,,MODIFIER,,,,-1	A	ENST00000293441	Transcript	missense_variant	missense_variant	188/6643	169/6486	57/2161	L/F	Ctc/Ttc		1		-1	SHANK1	HGNC	HGNC:15474	protein_coding	YES	CCDS12799.1	ENSP00000293441	Q9Y566		UPI000013E109	NM_016148.2		benign(0.031)	1/23																			MODERATE	1	SNV	1			1											PASS	CTGGAGGCCTC	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	A	3	1	1	50716751	50716751	G	A	1	0	0	0	0	1	0	0	0	14523	1000	35	3		3	SHANK1	19	50716751	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	47597807	50716751	7900865	9	9											
LILRA2	11027	BI	GRCh38	chr19	54575468	54575468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtgagcccctcccacGggggccagtacagatgctac	12	16	0	2	rs368237647	byCluster;byFrequency	TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.868G>A	p.Gly290Arg	p.G290R	ENST00000251377	6/9	68	36	32	56			LILRA2,missense_variant,p.G290R,ENST00000251376,NM_006866.2,c.868G>A,MODERATE,,tolerated(0.11),benign(0.169),1;LILRA2,missense_variant,p.G290R,ENST00000251377,,c.868G>A,MODERATE,YES,tolerated(0.11),benign(0.249),1;LILRA2,missense_variant,p.G290R,ENST00000391738,NM_001130917.1,c.868G>A,MODERATE,,tolerated(0.11),benign(0.249),1;LILRA2,missense_variant,p.G290R,ENST00000439534,,c.868G>A,MODERATE,,tolerated(0.11),benign(0.12),1;LILRA2,missense_variant,p.G278R,ENST00000391737,NM_001290270.1,c.832G>A,MODERATE,,tolerated(0.11),benign(0.288),1;LILRA1,intron_variant,,ENST00000618665,,c.70+1357G>A,MODIFIER,,,,1;LILRA2,intron_variant,,ENST00000629481,,c.315-490G>A,MODIFIER,,,,1;LILRA2,upstream_gene_variant,,ENST00000472992,,,MODIFIER,,,,1;LILRA2,downstream_gene_variant,,ENST00000495786,,,MODIFIER,,,,1	A	ENST00000251377	Transcript	missense_variant	missense_variant	1001/1799	868/1452	290/483	G/R	Ggg/Agg	rs368237647	1		1	LILRA2	HGNC	HGNC:6603	protein_coding	YES	CCDS46179.1	ENSP00000251377	Q8N149		UPI00034F238E		tolerated(0.11)	benign(0.249)	6/9		PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726;PIRSF_domain:PIRSF001979								0	1e-04								MODERATE	1	SNV	5			1	2.471e-05	2.475e-05	0	0	0.0001156	0	1.501e-05	0	6.056e-05		panel_of_normals	CCCACGGGGGC	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c	gdc_pon		True	Unknown	A	3	1	1	54575468	54575468	G	A	1	0	0	0	0	1	0	0	0	8694	1116	39	2		2	LILRA2	19	54575468	Missense_Mutation	SNP	G	TCGA-RZ-AB0B-01A-11D-A39W-08	3858717	54575468	4042148	10	10											
GMEB2	26205	BI	GRCh38	chr20	63604745	63604745	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctaggacggcttcctacctAacacggcttccttgagctgg	10	14	0	1	novel		TCGA-RZ-AB0B-01A-11D-A39W-08	TCGA-RZ-AB0B-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b4a5e52a-4422-40bc-b6a4-b8403051345e	3cd31965-60cf-4ffc-a130-e5b3aa8f124c	c.227T>A	p.Leu76Ter	p.L76*	ENST00000266068	2/9	61	52	9	70			GMEB2,stop_gained,p.L76*,ENST00000266068,,c.227T>A,HIGH,YES,,,-1;GMEB2,stop_gained,p.L76*,ENST00000370077,NM_012384.3,c.227T>A,HIGH,,,,-1;GMEB2,stop_gained,p.L25*,ENST00000370069,,c.74T>A,HIGH,,,,-1	T	ENST00000266068	Transcript	stop_gained	stop_gained;splice_region_variant	706/4559	227/1593	76/530	L/*	tTa/tAa		1		-1	GMEB2	HGNC	HGNC:4371	protein_coding	YES	CCDS13528.1	ENSP00000266068	Q9UKD1		UPI000012B8AD				2/9																			HIGH	1	SNV	1			1											PASS	TACCTAACACG	b3f899dd-5a1f-4f58-aacb-2376ad2b7016	83070457-32ee-445f-908f-9ebb68f27c59	889ce9a2-a3f6-4494-8ae4-bec42c41bca4	2bf47a88-df0a-4102-af2e-998c3d252b9c			True	Unknown	T	4	4	1	63604745	63604745	A	T	1	0	0	0	0	0	1	0	0	6367	376	13	5		5	GMEB2	20	63604745	Nonsense_Mutation	SNP	A	TCGA-RZ-AB0B-01A-11D-A39W-08		63604745	839422	11	11											
PRAMEF5	343068	BI	GRCh38	chr1	13263004	13263004	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagctgatgaagagaGtgagggacttaaggcacccc	16	8	0	5	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.1324G>T	p.Val442Leu	p.V442L	ENST00000622421	4/4	112	101	11	245			PRAMEF5,missense_variant,p.V442L,ENST00000622421,NM_001013407.1,c.1324G>T,MODERATE,YES,tolerated(1),benign(0.021),1;PRAMEF5,non_coding_transcript_exon_variant,,ENST00000605221,,n.1346G>T,MODIFIER,,,,1	T	ENST00000622421	Transcript	missense_variant	missense_variant	1424/1855	1324/1431	442/476	V/L	Gtg/Ttg		1		1	PRAMEF5	HGNC	HGNC:27995	protein_coding	YES	CCDS72708.1	ENSP00000480122		A0A087WWD0	UPI0004423C15	NM_001013407.1	tolerated(1)	benign(0.021)	4/4																			MODERATE	1	SNV	1			1											PASS	AGAGAGTGAGG	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	T	3	4	2	13263004	13263004	G	T	1	0	0	0	0	1	0	0	0	12567	1029	36	5		5	PRAMEF5	1	13263004	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		13263004	235693418	1	12											
DFNA5	1687	BI	GRCh38	chr7	24719149	24719149	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atcgtcgtgatcttctgtgtCaaaacgcacaggacctcatt	8	11	4	1	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.474G>C	p.Leu158Phe	p.L158F	ENST00000342947	4/10	72	43	29	94			DFNA5,missense_variant,p.L158F,ENST00000342947,NM_004403.2,c.474G>C,MODERATE,YES,deleterious(0),probably_damaging(0.991),-1;DFNA5,missense_variant,p.L158F,ENST00000409775,NM_001127453.1,c.474G>C,MODERATE,,deleterious(0),probably_damaging(0.991),-1;DFNA5,5_prime_UTR_variant,,ENST00000419307,NM_001127454.1,c.-19G>C,MODIFIER,,,,-1;DFNA5,5_prime_UTR_variant,,ENST00000409970,,c.-19G>C,MODIFIER,,,,-1;DFNA5,5_prime_UTR_variant,,ENST00000414428,,c.-19G>C,MODIFIER,,,,-1;DFNA5,upstream_gene_variant,,ENST00000446822,,,MODIFIER,,,,-1;DFNA5,upstream_gene_variant,,ENST00000415480,,,MODIFIER,,,,-1;DFNA5,non_coding_transcript_exon_variant,,ENST00000559637,,n.169G>C,MODIFIER,,,,-1;DFNA5,missense_variant,p.L81F,ENST00000411476,,c.243G>C,MODERATE,,deleterious(0.01),probably_damaging(0.979),-1;DFNA5,non_coding_transcript_exon_variant,,ENST00000493723,,n.493G>C,MODIFIER,,,,-1	G	ENST00000342947	Transcript	missense_variant	missense_variant	900/2590	474/1491	158/496	L/F	ttG/ttC		1		-1	DFNA5	HGNC	HGNC:2810	protein_coding	YES	CCDS5389.1	ENSP00000339587	O60443	A0A024RA58	UPI00001291FC	NM_004403.2	deleterious(0)	probably_damaging(0.991)	4/10		Pfam_domain:PF04598																	MODERATE	1	SNV	1			1											PASS	TGTGTCAAAAC	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	G	3	3	2	24719149	24719149	C	G	1	0	0	0	0	1	0	0	0	4262	825	29	5		5	DFNA5	7	24719149	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		24719149	134626824	2	13											
CNTN5	53942	BI	GRCh38	chr11	100308472	100308472	+	Splice_Region	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccacagggatttgaggtaTgaacagaatgattgaaaata	11	4	0	5	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.2730+4T>C			ENST00000524871		30	19	11	36			CNTN5,stop_lost,p.*912Rext*3,ENST00000527185,NM_001243271.1,c.2734T>C,HIGH,,,,1;CNTN5,splice_region_variant,,ENST00000524871,NM_014361.3,c.2730+4T>C,LOW,YES,,,1;CNTN5,splice_region_variant,,ENST00000279463,,c.2682+4T>C,LOW,,,,1;CNTN5,splice_region_variant,,ENST00000619298,,c.2496+4T>C,LOW,,,,1;CNTN5,splice_region_variant,,ENST00000528682,NM_001243270.1,c.2730+4T>C,LOW,,,,1;CNTN5,splice_region_variant,,ENST00000418526,NM_175566.2,c.2508+4T>C,LOW,,,,1;CNTN5,splice_region_variant,,ENST00000524560,,n.978+4T>C,LOW,,,,1	C	ENST00000524871	Transcript	splice_region_variant	splice_region_variant;intron_variant	-/6258	-/3303	-/1100				1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3				21/24																		LOW	1	SNV	1			1											PASS	AGGTATGAACA	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	C	5	2	2	100308472	100308472	T	C	1	0	0	0	0	0	0	1	0	3425	1478	51	4		4	CNTN5	11	100308472	Splice_Region	SNP	T	TCGA-V3-A9ZX-01A-11D-A39W-08		100308472	34778150	3	14											
TNS2	23371	BI	GRCh38	chr12	53055825	53055825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgtttctgcctacatgcaCtacagcaagatctctgcagg	8	12	2	1	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.741C>T	p.=	p.H247H	ENST00000314250	10/29	136	89	47	182			TNS2,synonymous_variant,p.H247H,ENST00000314250,NM_170754.2,c.741C>T,LOW,,,,1;TNS2,synonymous_variant,p.H257H,ENST00000314276,NM_015319.2,c.771C>T,LOW,YES,,,1;TNS2,synonymous_variant,p.H123H,ENST00000379902,NM_198316.1,c.369C>T,LOW,,,,1;TNS2,synonymous_variant,p.H247H,ENST00000552570,,c.741C>T,LOW,,,,1;TNS2,synonymous_variant,p.H247H,ENST00000549700,,c.741C>T,LOW,,,,1;TNS2,synonymous_variant,p.H247H,ENST00000546602,,c.741C>T,LOW,,,,1;TNS2,upstream_gene_variant,,ENST00000602335,,,MODIFIER,,,,1;MIR6757,upstream_gene_variant,,ENST00000612099,,,MODIFIER,YES,,,1;RP11-983P16.4,upstream_gene_variant,,ENST00000546793,,,MODIFIER,YES,,,-1;RP11-983P16.4,upstream_gene_variant,,ENST00000550601,,,MODIFIER,,,,-1;RP11-983P16.4,upstream_gene_variant,,ENST00000551890,,,MODIFIER,,,,-1;TNS2,non_coding_transcript_exon_variant,,ENST00000549311,,n.876C>T,MODIFIER,,,,1;TNS2,non_coding_transcript_exon_variant,,ENST00000549498,,n.816C>T,MODIFIER,,,,1;TNS2,upstream_gene_variant,,ENST00000546772,,,MODIFIER,,,,1;TNS2,downstream_gene_variant,,ENST00000551693,,,MODIFIER,,,,1;TNS2,upstream_gene_variant,,ENST00000547223,,,MODIFIER,,,,1;TNS2,downstream_gene_variant,,ENST00000552403,,,MODIFIER,,,,1;TNS2,downstream_gene_variant,,ENST00000551302,,,MODIFIER,,,,1;TNS2,upstream_gene_variant,,ENST00000546759,,,MODIFIER,,,,1;TNS2,upstream_gene_variant,,ENST00000551583,,,MODIFIER,,,,1;TNS2,upstream_gene_variant,,ENST00000549789,,,MODIFIER,,,,1	T	ENST00000314250	Transcript	synonymous_variant	synonymous_variant	1031/5010	741/4230	247/1409	H	caC/caT		1		1	TNS2	HGNC	HGNC:19737	protein_coding		CCDS8843.1	ENSP00000319684	Q63HR2		UPI000013F7A1	NM_170754.2			10/29		PROSITE_profiles:PS51181;Superfamily_domains:SSF52799																	LOW		SNV	1			1											PASS	ATGCACTACAG	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	T	2	4	2	53055825	53055825	C	T	1	0	0	0	0	0	0	0	1	16817	564	20	3		3	TNS2	12	53055825	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		53055825	80219484	4	15											
GGA2	23062	BI	GRCh38	chr16	23470094	23470094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctctgggtgcccaggggCtcccgtctgggagaagtgga	16	11	2	1	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.1522G>A	p.Ala508Thr	p.A508T	ENST00000309859	15/17	58	43	15	68			GGA2,missense_variant,p.A508T,ENST00000309859,NM_015044.4,c.1522G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.93),-1;GGA2,intron_variant,,ENST00000567468,,c.625-4696G>A,MODIFIER,,,,-1;GGA2,downstream_gene_variant,,ENST00000569182,,,MODIFIER,,,,-1;GGA2,upstream_gene_variant,,ENST00000566685,,,MODIFIER,,,,-1;GGA2,upstream_gene_variant,,ENST00000567339,,,MODIFIER,,,,-1;GGA2,upstream_gene_variant,,ENST00000568922,,,MODIFIER,,,,-1	T	ENST00000309859	Transcript	missense_variant	missense_variant	1605/5973	1522/1842	508/613	A/T	Gcc/Acc		1		-1	GGA2	HGNC	HGNC:16064	protein_coding	YES	CCDS10611.1	ENSP00000311962	Q9UJY4		UPI000013EF46	NM_015044.4	tolerated(0.07)	probably_damaging(0.93)	15/17		Pfam_domain:PF02883;PROSITE_profiles:PS50180;SMART_domains:SM00809;Superfamily_domains:SSF49348																	MODERATE	1	SNV	1			1											PASS	AGGGGCTCCCG	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	T	3	4	2	23470094	23470094	C	T	1	0	0	0	0	1	0	0	0	6228	797	28	3		3	GGA2	16	23470094	Missense_Mutation	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08		23470094	66868251	5	16											
CFAP52	146845	BI	GRCh38	chr17	9586794	9586794	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctctggccttttctccaaatGatttgtacttggtatcacta	6	10	3	1	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.367G>C	p.Asp123His	p.D123H	ENST00000352665	3/14	98	51	47	98			CFAP52,missense_variant,p.D123H,ENST00000352665,NM_145054.4,c.367G>C,MODERATE,YES,deleterious(0.01),probably_damaging(0.933),1;CFAP52,missense_variant,p.D55H,ENST00000396219,NM_001080556.1,c.163G>C,MODERATE,,deleterious(0.01),possibly_damaging(0.866),1;CFAP52,missense_variant,p.M121I,ENST00000576499,,c.363G>C,MODERATE,,,unknown(0),1;CFAP52,3_prime_UTR_variant,,ENST00000576630,,c.*428G>C,MODIFIER,,,,1;CFAP52,3_prime_UTR_variant,,ENST00000575247,,c.*71G>C,MODIFIER,,,,1;CFAP52,3_prime_UTR_variant,,ENST00000572333,,c.*71G>C,MODIFIER,,,,1;CFAP52,non_coding_transcript_exon_variant,,ENST00000576320,,n.164G>C,MODIFIER,,,,1;CFAP52,intron_variant,,ENST00000574937,,c.70+10029G>C,MODIFIER,,,,1;RPL19P18,downstream_gene_variant,,ENST00000466869,,,MODIFIER,YES,,,-1	C	ENST00000352665	Transcript	missense_variant	missense_variant	436/2193	367/1863	123/620	D/H	Gat/Cat		1		1	CFAP52	HGNC	HGNC:16053	protein_coding	YES	CCDS11149.2	ENSP00000339449	Q8N1V2		UPI00001AECC1	NM_145054.4	deleterious(0.01)	probably_damaging(0.933)	3/14		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1											PASS	CAAATGATTTG	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	C	3	2	2	9586794	9586794	G	C	1	0	0	0	0	1	0	0	0	3023	1290	45	5		5	CFAP52	17	9586794	Missense_Mutation	SNP	G	TCGA-V3-A9ZX-01A-11D-A39W-08		9586794	73670647	6	17											
C17orf80	55028	BI	GRCh38	chr17	73242972	73242972	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctcttcacaggatacttcgtCctgtgttgtagctggagttt	10	9	2	0	novel		TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.1698C>G	p.=	p.V566V	ENST00000359042	5/6	31	17	14	38			C17orf80,synonymous_variant,p.V566V,ENST00000359042,NM_017941.5,c.1698C>G,LOW,YES,,,1;C17orf80,synonymous_variant,p.V530V,ENST00000268942,NM_001100621.2,c.1590C>G,LOW,,,,1;C17orf80,synonymous_variant,p.V530V,ENST00000255557,NM_001288771.1,c.1590C>G,LOW,,,,1;C17orf80,synonymous_variant,p.V566V,ENST00000535032,,c.1698C>G,LOW,,,,1;C17orf80,synonymous_variant,p.V566V,ENST00000426147,NM_001100622.2,c.1698C>G,LOW,,,,1;C17orf80,synonymous_variant,p.V530V,ENST00000577615,NM_001288770.1,c.1590C>G,LOW,,,,1;C17orf80,synonymous_variant,p.V35V,ENST00000582793,,c.105C>G,LOW,,,,1;RP11-661C3.2,upstream_gene_variant,,ENST00000579037,,,MODIFIER,YES,,,1	G	ENST00000359042	Transcript	synonymous_variant	synonymous_variant	1907/3645	1698/1830	566/609	V	gtC/gtG		1		1	C17orf80	HGNC	HGNC:29601	protein_coding	YES	CCDS11694.1	ENSP00000351937	Q9BSJ5		UPI000014128C	NM_017941.5			5/6		Transmembrane_helices:Tmhmm																	LOW		SNV	5			1											PASS	TTCGTCCTGTG	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84			True	Unknown	G	2	3	2	73242972	73242972	C	G	1	0	0	0	0	0	0	0	1	1891	842	30	5		5	C17orf80	17	73242972	Silent	SNP	C	TCGA-V3-A9ZX-01A-11D-A39W-08	63656178	73242972	10014469	7	18											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V3-A9ZX-01A-11D-A39W-08	TCGA-V3-A9ZX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3f73499c-a4af-4281-b75f-cf8021d1f025	c85f7ffd-e167-4dee-b5d6-b469ef021e55	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	55	33	22	80			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	f2580812-10f9-452b-8fce-1ce2f70544c4	b9c04655-5c66-4a77-aa5f-4eb05d66cbdd	131ca785-5c10-4af7-a8eb-0376c716459b	5019e7f1-db46-4a07-9e7b-b6e5d1481b84		COSM52969	True	Unknown	T	3	4	2	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V3-A9ZX-01A-11D-A39W-08		3118944	55498672	8	19											
FAT1	2195	BI	GRCh38	chr4	186621499	186621499	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttttatttcatacaccactGatgattgactatgggctgta	7	8	1	3	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.5087C>T	p.Ser1696Leu	p.S1696L	ENST00000441802	10/27	64	60	4	79			FAT1,missense_variant,p.S1696L,ENST00000441802,NM_005245.3,c.5087C>T,MODERATE,YES,,probably_damaging(0.946),-1;FAT1,missense_variant,p.S1698L,ENST00000614102,,c.5093C>T,MODERATE,,,probably_damaging(0.938),-1	A	ENST00000441802	Transcript	missense_variant	missense_variant	5297/14786	5087/13767	1696/4588	S/L	tCa/tTa		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3		probably_damaging(0.946)	10/27		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1											PASS	CCACTGATGAT	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	A	3	1	3	186621499	186621499	G	A	1	0	0	0	0	1	0	0	0	5549	1294	45	3		3	FAT1	4	186621499	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		186621499	3593056	1	20											
PCDHGA2	56113	BI	GRCh38	chr5	141339775	141339775	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggtgaccgccactgaCgcagatgagggctactacgc	12	14	1	4	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.804C>A	p.Asp268Glu	p.D268E	ENST00000394576	1/4	99	52	47	129			PCDHGA2,missense_variant,p.D268E,ENST00000394576,NM_018915.3,c.804C>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),1;PCDHGA2,missense_variant,p.D268E,ENST00000528330,NM_032009.2,c.804C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+6670C>A,MODIFIER,YES,,,1;PCDHGA3,upstream_gene_variant,,ENST00000253812,NM_018916.3,,MODIFIER,YES,,,1;PCDHGA3,upstream_gene_variant,,ENST00000619750,NM_032011.1,,MODIFIER,,,,1;PCDHGA3,upstream_gene_variant,,ENST00000612467,,,MODIFIER,,,,1	A	ENST00000394576	Transcript	missense_variant	missense_variant	804/4605	804/2799	268/932	D/E	gaC/gaA		1		1	PCDHGA2	HGNC	HGNC:8700	protein_coding	YES	CCDS47289.1	ENSP00000378077	Q9Y5H1		UPI0000072E67	NM_018915.3	deleterious_low_confidence(0)	probably_damaging(0.999)	1/4		Pfam_domain:PF00028;Prints_domain:PR00205;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	ACTGACGCAGA	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	A	3	1	3	141339775	141339775	C	A	1	0	0	0	0	1	0	0	0	11641	535	19	5		5	PCDHGA2	5	141339775	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		141339775	40198484	2	21											
GRIA1	2890	BI	GRCh38	chr5	153794706	153794706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggtggtacgacaagggcGagtgcggcagcgggggaggt	21	6	0	0	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.2356G>A	p.Glu786Lys	p.E786K	ENST00000285900	14/16	38	23	15	34			GRIA1,missense_variant,p.E786K,ENST00000285900,NM_000827.3,c.2356G>A,MODERATE,,deleterious(0.02),probably_damaging(1),1;GRIA1,missense_variant,p.E796K,ENST00000518783,NM_001258021.1,c.2386G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.999),1;GRIA1,missense_variant,p.E717K,ENST00000521843,NM_001258023.1,c.2149G>A,MODERATE,,deleterious(0.02),probably_damaging(1),1;GRIA1,missense_variant,p.E706K,ENST00000518142,NM_001258019.1,c.2116G>A,MODERATE,,deleterious(0.03),probably_damaging(0.99),1;GRIA1,intron_variant,,ENST00000340592,NM_001258020.1&NM_001114183.1,c.2271-770G>A,MODIFIER,,,,1;GRIA1,intron_variant,,ENST00000448073,NM_001258022.1,c.2301-770G>A,MODIFIER,,,,1	A	ENST00000285900	Transcript	missense_variant	missense_variant	2699/5708	2356/2721	786/906	E/K	Gag/Aag		1		1	GRIA1	HGNC	HGNC:4571	protein_coding		CCDS4322.1	ENSP00000285900	P42261		UPI000013DE17	NM_000827.3	deleterious(0.02)	probably_damaging(1)	14/16		Low_complexity_(Seg):Seg;Pfam_domain:PF00060;Superfamily_domains:SSF53850																	MODERATE		SNV	1			1											PASS	AGGGCGAGTGC	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	A	3	1	3	153794706	153794706	G	A	1	0	0	0	0	1	0	0	0	6647	1059	37	2		2	GRIA1	5	153794706	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	12454931	153794706	27743553	3	22											
PRSS16	10279	BI	GRCh38	chr6	27254699	27254699	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atctccctacacagatgtcaCctgtgagaatcccagatgtc	7	13	2	3	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.1157C>G	p.Thr386Ser	p.T386S	ENST00000230582	10/12	125	90	35	110			PRSS16,missense_variant,p.T386S,ENST00000230582,NM_005865.3,c.1157C>G,MODERATE,YES,deleterious(0.04),benign(0.361),1;PRSS16,missense_variant,p.T129S,ENST00000421826,,c.386C>G,MODERATE,,tolerated(0.25),probably_damaging(0.913),1;PRSS16,incomplete_terminal_codon_variant,p.X165X,ENST00000475106,,c.492C>G,LOW,,,,1;PRSS16,incomplete_terminal_codon_variant,p.X139X,ENST00000485993,,c.414C>G,LOW,,,,1;PRSS16,non_coding_transcript_exon_variant,,ENST00000484493,,n.352C>G,MODIFIER,,,,1;PRSS16,non_coding_transcript_exon_variant,,ENST00000468138,,n.570C>G,MODIFIER,,,,1;PRSS16,non_coding_transcript_exon_variant,,ENST00000471463,,n.386C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000377456,,n.454-287C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000478690,,n.181-287C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000459736,,n.323-287C>G,MODIFIER,,,,1;PRSS16,missense_variant,p.P82A,ENST00000466364,,c.244C>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.737),1;PRSS16,3_prime_UTR_variant,,ENST00000454665,,c.*48C>G,MODIFIER,,,,1;PRSS16,3_prime_UTR_variant,,ENST00000470870,,c.*115C>G,MODIFIER,,,,1;PRSS16,3_prime_UTR_variant,,ENST00000468930,,c.*237C>G,MODIFIER,,,,1;PRSS16,non_coding_transcript_exon_variant,,ENST00000485603,,n.1714C>G,MODIFIER,,,,1;PRSS16,non_coding_transcript_exon_variant,,ENST00000488649,,n.220C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000492575,,n.195-287C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000495683,,n.195-287C>G,MODIFIER,,,,1;PRSS16,intron_variant,,ENST00000481125,,n.497-287C>G,MODIFIER,,,,1;PRSS16,downstream_gene_variant,,ENST00000462664,,,MODIFIER,,,,1	G	ENST00000230582	Transcript	missense_variant	missense_variant	1172/2716	1157/1545	386/514	T/S	aCc/aGc		1		1	PRSS16	HGNC	HGNC:9480	protein_coding	YES	CCDS4623.1	ENSP00000230582	Q9NQE7		UPI0000137773	NM_005865.3	deleterious(0.04)	benign(0.361)	10/12		Pfam_domain:PF05577																	MODERATE	1	SNV	1			1											PASS	TGTCACCTGTG	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	G	3	3	3	27254699	27254699	C	G	1	0	0	0	0	1	0	0	0	12763	507	18	5		5	PRSS16	6	27254699	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		27254699	143551280	4	23											
COBL	23242	BI	GRCh38	chr7	51028255	51028255	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcccccctaggaggggcTcccactgccaaatcttcccc	7	20	1	0	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.2841A>G	p.=	p.G947G	ENST00000265136	10/13	31	15	16	44			COBL,synonymous_variant,p.G1004G,ENST00000395542,NM_001287436.1,c.3012A>G,LOW,YES,,,-1;COBL,synonymous_variant,p.G947G,ENST00000265136,NM_015198.3,c.2841A>G,LOW,,,,-1;COBL,synonymous_variant,p.G832G,ENST00000431948,,c.2496A>G,LOW,,,,-1;COBL,synonymous_variant,p.G839G,ENST00000445054,,c.2517A>G,LOW,,,,-1;COBL,downstream_gene_variant,,ENST00000452534,,,MODIFIER,,,,-1;COBL,non_coding_transcript_exon_variant,,ENST00000462395,,n.6481A>G,MODIFIER,,,,-1	C	ENST00000265136	Transcript	synonymous_variant	synonymous_variant	3007/5291	2841/3786	947/1261	G	ggA/ggG		1		-1	COBL	HGNC	HGNC:22199	protein_coding		CCDS34637.1	ENSP00000265136	O75128		UPI00001A9480	NM_015198.3			10/13																			LOW		SNV	1			1											PASS	GGGGCTCCCAC	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	C	2	2	3	51028255	51028255	T	C	1	0	0	0	0	0	0	0	1	3442	1538	54	4		4	COBL	7	51028255	Silent	SNP	T	TCGA-V3-A9ZY-01A-11D-A39W-08		51028255	108317718	5	24											
ZNF518A	9849	BI	GRCh38	chr10	96158066	96158082	+	Frame_Shift_Del	DEL	CATCTCACTCAGAGTCA	CATCTCACTCAGAGTCA	-													atgttgacttctggggaaatCatctcactcagagtcacccc					novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.1745_1761delATCTCACTCAGAGTCAC	p.His582ProfsTer9	p.H582Pfs*9	ENST00000316045	6/6	18	14	4	33			ZNF518A,frameshift_variant,p.H582Pfs*9,ENST00000624776,NM_001278525.1,c.1745_1761delATCTCACTCAGAGTCAC,HIGH,YES,,,1;ZNF518A,frameshift_variant,p.H582Pfs*9,ENST00000614149,,c.1745_1761delATCTCACTCAGAGTCAC,HIGH,,,,1;ZNF518A,frameshift_variant,p.H582Pfs*9,ENST00000316045,NM_001278524.1&NM_014803.3,c.1745_1761delATCTCACTCAGAGTCAC,HIGH,,,,1;ZNF518A,downstream_gene_variant,,ENST00000478086,,,MODIFIER,,,,1;ZNF518A,intron_variant,,ENST00000563195,,n.225+24419_225+24435delATCTCACTCAGAGTCAC,MODIFIER,,,,1;ZNF518A,intron_variant,,ENST00000442635,,n.35+2020_35+2036delATCTCACTCAGAGTCAC,MODIFIER,,,,1;ZNF518A,downstream_gene_variant,,ENST00000488700,,,MODIFIER,,,,1;ZNF518A,non_coding_transcript_exon_variant,,ENST00000534948,,n.2576_2592delATCTCACTCAGAGTCAC,MODIFIER,,,,1	-	ENST00000316045	Transcript	frameshift_variant	frameshift_variant	2601-2617/7277	1744-1760/4452	582-587/1483	HLTQSH/X	CATCTCACTCAGAGTCAc/c		1		1	ZNF518A	HGNC	HGNC:29009	protein_coding		CCDS73170.1	ENSP00000479684	Q6AHZ1		UPI00003FEC7C	NM_001278524.1;NM_014803.3			6/6																			HIGH		deletion	1	1		1											PASS	GGAAATCATCTCACTCAGAGTCACCCCG	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			False	Unknown	-	7	5	3	96158066	96158066	CATCTCACTCAGAGTCA	-	1	0	1	0	1	0	0	0	0	18534	826	29	0		0	ZNF518A	10	96158066	Frame_Shift_Del	DEL	CATCTCACTCAGAGTCA	TCGA-V3-A9ZY-01A-11D-A39W-08		96158066	37639356	6	25											
PTPRB	5787	BI	GRCh38	chr12	70622624	70622624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttctagtgctcctcacCgaaacttctgctcccaggcc	8	15	3	0	rs376545279	byCluster;byFrequency	TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.474G>A	p.=	p.S158S	ENST00000334414	3/34	10	5	5	10			PTPRB,synonymous_variant,p.S158S,ENST00000334414,NM_001109754.2,c.474G>A,LOW,YES,,,-1;PTPRB,synonymous_variant,p.S158S,ENST00000550358,,c.474G>A,LOW,,,,-1;PTPRB,synonymous_variant,p.S158S,ENST00000451516,,c.474G>A,LOW,,,,-1;PTPRB,synonymous_variant,p.S157S,ENST00000551525,,c.471G>A,LOW,,,,-1;PTPRB,intron_variant,,ENST00000548122,,c.208-97G>A,MODIFIER,,,,-1;PTPRB,non_coding_transcript_exon_variant,,ENST00000538174,,n.493G>A,MODIFIER,,,,-1;PTPRB,non_coding_transcript_exon_variant,,ENST00000552253,,n.519G>A,MODIFIER,,,,-1	T	ENST00000334414	Transcript	synonymous_variant	synonymous_variant	519/12316	474/6648	158/2215	S	tcG/tcA	rs376545279	1		-1	PTPRB	HGNC	HGNC:9665	protein_coding	YES	CCDS44943.1	ENSP00000334928	P23467		UPI00002294FA	NM_001109754.2			3/34										3e-04	4e-04								LOW	1	SNV	1			1	4.167e-05	0.0001212	0.0002513	0	0.0004591	0	9.506e-05	0.002793	0		PASS	CTCACCGAAAC	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9	common_in_exac	COSM4549507	True	Unknown	T	2	4	3	70622624	70622624	C	T	1	0	0	0	0	0	0	0	1	12950	639	23	2		2	PTPRB	12	70622624	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		70622624	62652685	7	26											
PDS5B	23047	BI	GRCh38	chr13	32651891	32651891	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagctttacatcttgcttcaGatttttttctcaagcatcct	4	10	3	1	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.196G>C	p.Asp66His	p.D66H	ENST00000315596	3/35	152	94	58	189			PDS5B,missense_variant,p.D66H,ENST00000315596,NM_015032.3,c.196G>C,MODERATE,YES,deleterious(0),benign(0.242),1;PDS5B,missense_variant,p.D66H,ENST00000450460,,c.196G>C,MODERATE,,deleterious(0),benign(0.242),1;PDS5B,non_coding_transcript_exon_variant,,ENST00000498550,,n.266G>C,MODIFIER,,,,1;PDS5B,non_coding_transcript_exon_variant,,ENST00000493653,,n.258G>C,MODIFIER,,,,1;PDS5B,non_coding_transcript_exon_variant,,ENST00000482955,,n.354G>C,MODIFIER,,,,1;PDS5B,downstream_gene_variant,,ENST00000466078,,,MODIFIER,,,,1	C	ENST00000315596	Transcript	missense_variant	missense_variant	382/7497	196/4344	66/1447	D/H	Gat/Cat		1		1	PDS5B	HGNC	HGNC:20418	protein_coding	YES	CCDS41878.1	ENSP00000313851	Q9NTI5		UPI000006D4A9	NM_015032.3	deleterious(0)	benign(0.242)	3/35		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CTTCAGATTTT	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	C	3	2	3	32651891	32651891	G	C	1	0	0	0	0	1	0	0	0	11780	942	33	5		5	PDS5B	13	32651891	Missense_Mutation	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08		32651891	81712437	8	27											
UNC79	57578	BI	GRCh38	chr14	93622779	93622793	+	In_Frame_Del	DEL	AGAGAGAGTACCTCG	AGAGAGAGTACCTCG	-													gattgctgtcagtgctatccAgagagagtacctcgacatct					novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.5547_5561delGAGAGAGTACCTCGA	p.Gln1849_Asp1854delinsHis	p.Q1849_D1854delinsH	ENST00000393151	30/50	35	23	12	60			UNC79,inframe_deletion,p.Q1871_D1876delinsH,ENST00000553484,,c.5613_5627delGAGAGAGTACCTCGA,MODERATE,,,,1;UNC79,inframe_deletion,p.Q1849_D1854delinsH,ENST00000555664,,c.5547_5561delGAGAGAGTACCTCGA,MODERATE,,,,1;UNC79,inframe_deletion,p.Q1672_D1677delinsH,ENST00000256339,NM_020818.3,c.5016_5030delGAGAGAGTACCTCGA,MODERATE,YES,,,1;UNC79,inframe_deletion,p.Q1849_D1854delinsH,ENST00000393151,,c.5547_5561delGAGAGAGTACCTCGA,MODERATE,,,,1;UNC79,inframe_deletion,p.Q1672_D1677delinsH,ENST00000621021,,c.5016_5030delGAGAGAGTACCTCGA,MODERATE,,,,1	-	ENST00000393151	Transcript	inframe_deletion	inframe_deletion	5546-5560/7908	5546-5560/7908	1849-1854/2635	QREYLD/H	cAGAGAGAGTACCTCGac/cac		1		1	UNC79	HGNC	HGNC:19966	protein_coding			ENSP00000376858	Q9P2D8		UPI00021CF3DC				30/50		Superfamily_domains:SSF48371																	MODERATE		deletion	5	1		1											PASS	CTATCCAGAGAGAGTACCTCGACATC	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	-	7	5	3	93622779	93622779	AGAGAGAGTACCTCG	-	1	0	1	0	1	0	0	0	0	17520	188	7	0		0	UNC79	14	93622779	In_Frame_Del	DEL	AGAGAGAGTACCTCG	TCGA-V3-A9ZY-01A-11D-A39W-08		93622779	13420939	9	28											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	60	34	26	79			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9		COSM52969	True	Unknown	T	3	4	3	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		3118944	55498672	10	29											
ZNF229	7772	BI	GRCh38	chr19	44429782	44429782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggttacgtatgtgcgtGttctgtctgacgccccgacc	14	11	2	1	rs754489162	byFrequency	TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.999C>T	p.=	p.N333N	ENST00000614049	6/6	46	20	26	51			ZNF229,synonymous_variant,p.N327N,ENST00000613197,NM_001278510.1,c.981C>T,LOW,,,,-1;ZNF229,synonymous_variant,p.N333N,ENST00000614049,NM_014518.2,c.999C>T,LOW,YES,,,-1;ZNF229,downstream_gene_variant,,ENST00000592308,,,MODIFIER,,,,-1;CTC-512J12.4,intron_variant,,ENST00000588655,,n.488+12781C>T,MODIFIER,YES,,,-1;ZNF229,intron_variant,,ENST00000591289,,n.523-12236C>T,MODIFIER,,,,-1;ZNF229,3_prime_UTR_variant,,ENST00000620012,,c.*1202C>T,MODIFIER,,,,-1	A	ENST00000614049	Transcript	synonymous_variant	synonymous_variant	1433/4507	999/2478	333/825	N	aaC/aaT	rs754489162	1		-1	ZNF229	HGNC	HGNC:13022	protein_coding	YES	CCDS42574.1	ENSP00000479884	Q9UJW7		UPI0001747B51	NM_014518.2			6/6																			LOW	1	SNV	1			1	1.654e-05	1.658e-05	0	0	0	0	3e-05	0	0		PASS	TGCGTGTTCTG	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	A	2	1	3	44429782	44429782	G	A	1	0	0	0	0	0	0	0	1	18359	1368	48	3		3	ZNF229	19	44429782	Silent	SNP	G	TCGA-V3-A9ZY-01A-11D-A39W-08	41310838	44429782	14187834	11	30											
LRRC4B	94030	BI	GRCh38	chr19	50518073	50518073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaacgccttctccgtgggcCgcgaggagcgcggggcgggt	19	12	1	1	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.1640G>A	p.Arg547Gln	p.R547Q	ENST00000389201	3/3	29	19	10	18			LRRC4B,missense_variant,p.R547Q,ENST00000599957,,c.1640G>A,MODERATE,YES,tolerated(0.12),benign(0.044),-1;LRRC4B,missense_variant,p.R547Q,ENST00000389201,NM_001080457.1,c.1640G>A,MODERATE,,tolerated(0.12),benign(0.044),-1;ASPDH,upstream_gene_variant,,ENST00000389208,NM_001114598.1,,MODIFIER,YES,,,-1;LRRC4B,downstream_gene_variant,,ENST00000600381,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000376916,NM_001024656.2,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000601207,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000598657,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000597030,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000601287,,,MODIFIER,,,,-1;ASPDH,upstream_gene_variant,,ENST00000593569,,,MODIFIER,,,,-1	T	ENST00000389201	Transcript	missense_variant	missense_variant	1777/2958	1640/2142	547/713	R/Q	cGg/cAg		1		-1	LRRC4B	HGNC	HGNC:25042	protein_coding		CCDS42595.1	ENSP00000373853	Q9NT99	A0A024R4I8	UPI00000497E7	NM_001080457.1	tolerated(0.12)	benign(0.044)	3/3		Low_complexity_(Seg):Seg																	MODERATE		SNV	2			1											PASS	TGGGCCGCGAG	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	T	3	4	3	50518073	50518073	C	T	1	0	0	0	0	1	0	0	0	8902	652	23	2		2	LRRC4B	19	50518073	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	6088291	50518073	8099543	12	31											
KIR3DL2	3812	BI	GRCh38	chr19	54852222	54852222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctacagatgtcggggttcaCgcccacactccctcactggg	10	16	2	1	rs376049512	byCluster;byFrequency	TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.295C>T	p.Arg99Cys	p.R99C	ENST00000326321	3/9	116	62	54	125			KIR3DL2,missense_variant,p.R99C,ENST00000326321,NM_006737.3,c.295C>T,MODERATE,YES,tolerated(0.07),benign(0.011),1;KIR3DL2,missense_variant,p.R99C,ENST00000270442,NM_001242867.1,c.295C>T,MODERATE,,tolerated(0.07),benign(0.003),1;KIR3DL1,intron_variant,,ENST00000541392,,c.950-6857C>T,MODIFIER,,,,1;KIR3DL1,intron_variant,,ENST00000538269,,c.950-6857C>T,MODIFIER,,,,1;KIR3DL1,intron_variant,,ENST00000402254,,c.1001-13583C>T,MODIFIER,,,,1;KIR2DS4,downstream_gene_variant,,ENST00000339924,,,MODIFIER,YES,,,1	T	ENST00000326321	Transcript	missense_variant	missense_variant	328/1877	295/1368	99/455	R/C	Cgc/Tgc	rs376049512	1		1	KIR3DL2	HGNC	HGNC:6339	protein_coding	YES	CCDS12906.1	ENSP00000325525	P43630			NM_006737.3	tolerated(0.07)	benign(0.011)	3/9		SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1	3.456e-05	3.579e-05	0	0	0.0003622	0	1.621e-05	0	0		PASS	GTTCACGCCCA	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9		COSM440298	True	Unknown	T	3	4	3	54852222	54852222	C	T	1	0	0	0	0	1	0	0	0	8185	536	19	1		1	KIR3DL2	19	54852222	Missense_Mutation	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08	4334149	54852222	3765394	13	32											
NLRP11	204801	BI	GRCh38	chr19	55796245	55796245	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctcgcaaatcacatttcAtcaagctgtaagaggaattc	8	9	3	1	rs773018512		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.2177T>C	p.Met726Thr	p.M726T	ENST00000589093	6/10	76	38	38	100			NLRP11,missense_variant,p.M726T,ENST00000589093,NM_145007.3,c.2177T>C,MODERATE,YES,tolerated(0.23),benign(0.145),-1;NLRP11,missense_variant,p.M672T,ENST00000589824,,c.2015T>C,MODERATE,,tolerated(0.06),benign(0.113),-1;NLRP11,missense_variant,p.M627T,ENST00000592953,NM_001297743.1,c.1880T>C,MODERATE,,tolerated(0.3),benign(0.145),-1;NLRP11,synonymous_variant,p.D652D,ENST00000590409,,c.1956T>C,LOW,,,,-1;NLRP11,3_prime_UTR_variant,,ENST00000593244,,c.*153T>C,MODIFIER,,,,-1	G	ENST00000589093	Transcript	missense_variant	missense_variant	2271/3417	2177/3102	726/1033	M/T	aTg/aCg	rs773018512	1		-1	NLRP11	HGNC	HGNC:22945	protein_coding	YES	CCDS12935.1	ENSP00000466285	P59045		UPI000013ED9D	NM_145007.3	tolerated(0.23)	benign(0.145)	6/10		Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1											PASS	ATTTCATCAAG	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	G	3	3	3	55796245	55796245	A	G	1	0	0	0	0	1	0	0	0	10510	231	8	4		4	NLRP11	19	55796245	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08	944023	55796245	2821371	14	33											
RALGAPB	57148	BI	GRCh38	chr20	38521567	38521567	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccacagacaccatggtttcCaatcctatgtttgatgcaag	7	11	0	2	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.1488C>A	p.=	p.S496S	ENST00000262879	10/30	77	73	4	116			RALGAPB,synonymous_variant,p.S496S,ENST00000262879,NM_001282917.1&NM_020336.3,c.1488C>A,LOW,YES,,,1;RALGAPB,synonymous_variant,p.S496S,ENST00000397042,NM_001282918.1,c.1488C>A,LOW,,,,1;RALGAPB,synonymous_variant,p.S496S,ENST00000397040,,c.1488C>A,LOW,,,,1;RALGAPB,synonymous_variant,p.S324S,ENST00000438490,,c.972C>A,LOW,,,,1;AL049868.1,downstream_gene_variant,,ENST00000616090,,,MODIFIER,YES,,,1;RALGAPB,non_coding_transcript_exon_variant,,ENST00000461423,,n.740C>A,MODIFIER,,,,1	A	ENST00000262879	Transcript	synonymous_variant	synonymous_variant	1772/8663	1488/4485	496/1494	S	tcC/tcA		1		1	RALGAPB	HGNC	HGNC:29221	protein_coding	YES	CCDS13305.1	ENSP00000262879	Q86X10		UPI000000DBFD	NM_001282917.1;NM_020336.3			10/30																			LOW	1	SNV	1			1											PASS	GTTTCCAATCC	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			False	Unknown	A	2	1	3	38521567	38521567	C	A	1	0	0	0	0	0	0	0	1	13174	581	21	5		5	RALGAPB	20	38521567	Silent	SNP	C	TCGA-V3-A9ZY-01A-11D-A39W-08		38521567	25922600	15	34											
EIF1AX	1964	BI	GRCh38	chrX	20134004	20134004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccgaggtatttatccAaacctacaaaagaaaagtca	6	8	1	1	novel		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	c.208T>A	p.Trp70Arg	p.W70R	ENST00000379607	4/7	54	4	50	68			EIF1AX,missense_variant,p.W70R,ENST00000379607,NM_001412.3,c.208T>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.988),-1;EIF1AX,missense_variant,p.W42R,ENST00000379593,,c.124T>A,MODERATE,,deleterious(0.01),probably_damaging(0.984),-1;snoU2_19,downstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,downstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1	T	ENST00000379607	Transcript	missense_variant	missense_variant	412/4427	208/435	70/144	W/R	Tgg/Agg		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0.01)	probably_damaging(0.988)	4/7		Pfam_domain:PF01176;TIGRFAM_domain:TIGR00523;PROSITE_profiles:PS50832;SMART_domains:SM00652;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	TATCCAAACCT	8028b6dd-ecdd-4684-a702-5e5b950cc3f0	9ae81312-0a0c-4961-9cb9-f9e3335c8a83	8d106f08-eca6-4052-b407-fa64fffacd1d	2112a42a-9b85-475a-a31b-4ce7751cdeb9			True	Unknown	T	3	4	3	20134004	20134004	A	T	1	0	0	0	0	1	0	0	0	4828	144	5	5		5	EIF1AX	23	20134004	Missense_Mutation	SNP	A	TCGA-V3-A9ZY-01A-11D-A39W-08		20134004	135906891	16	35											
GJA5	2702	BI	GRCh38	chr1	147758969	147758979	+	Frame_Shift_Del	DEL	CAGAGAGGGCG	CAGAGAGGGCG	-													atggcgtggcccatgtacacCagagagggcgtggagacgaa					novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.260_270delCGCCCTCTCTG	p.Thr87SerfsTer132	p.T87Sfs*132	ENST00000579774	2/2	46	38	8	93			GJA5,frameshift_variant,p.T87Sfs*132,ENST00000621517,NM_005266.6,c.260_270delCGCCCTCTCTG,HIGH,YES,,,-1;GJA5,frameshift_variant,p.T87Sfs*132,ENST00000579774,NM_181703.3,c.260_270delCGCCCTCTCTG,HIGH,,,,-1;GJA5,frameshift_variant,p.T87Sfs*132,ENST00000430508,,c.260_270delCGCCCTCTCTG,HIGH,,,,-1;RP11-433J22.2,downstream_gene_variant,,ENST00000622634,,,MODIFIER,YES,,,1;RP11-433J22.2,downstream_gene_variant,,ENST00000612401,,,MODIFIER,,,,1	-	ENST00000579774	Transcript	frameshift_variant	frameshift_variant	401-411/3181	260-270/1077	87-90/358	TPSL/X	aCGCCCTCTCTG/a		1		-1	GJA5	HGNC	HGNC:4279	protein_coding		CCDS929.1	ENSP00000463851	P36382	X5D2H9	UPI000013D8D2	NM_181703.3			2/2		Transmembrane_helices:Tmhmm;Pfam_domain:PF00029;Prints_domain:PR00206																	HIGH		deletion	1			1											PASS	GTACACCAGAGAGGGCGTGGAG	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	-	7	5	4	147758969	147758969	CAGAGAGGGCG	-	1	0	1	0	1	0	0	0	0	6283	581	21	0		0	GJA5	1	147758969	Frame_Shift_Del	DEL	CAGAGAGGGCG	TCGA-V4-A9E5-01A-11D-A39W-08		147758969	101197453	1	36											
FCGR2A	2212	BI	GRCh38	chr1	161518089	161518089	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	accccagggcacctactgacGatgataaaaacatctacctg	7	13	1	2	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.895G>T	p.Asp299Tyr	p.D299Y	ENST00000271450	7/7	45	30	15	67			FCGR2A,missense_variant,p.D299Y,ENST00000271450,NM_001136219.1&NM_201563.5,c.895G>T,MODERATE,YES,deleterious_low_confidence(0.02),probably_damaging(0.995),1;FCGR2A,missense_variant,p.D298Y,ENST00000367972,NM_021642.3,c.892G>T,MODERATE,,deleterious_low_confidence(0.02),probably_damaging(0.969),1;FCGR2A,missense_variant,p.D51Y,ENST00000459885,,c.150G>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.993),1;FCGR2A,non_coding_transcript_exon_variant,,ENST00000486608,,n.370G>T,MODIFIER,,,,1;FCGR2A,non_coding_transcript_exon_variant,,ENST00000461298,,n.304G>T,MODIFIER,,,,1;FCGR2A,non_coding_transcript_exon_variant,,ENST00000471026,,n.465G>T,MODIFIER,,,,1;FCGR2A,non_coding_transcript_exon_variant,,ENST00000491841,,n.115G>T,MODIFIER,,,,1;RP11-25K21.6,non_coding_transcript_exon_variant,,ENST00000537821,,n.223G>T,MODIFIER,YES,,,1;FCGR2A,3_prime_UTR_variant,,ENST00000467525,,c.*172G>T,MODIFIER,,,,1;FCGR2A,3_prime_UTR_variant,,ENST00000483665,,c.*597G>T,MODIFIER,,,,1	T	ENST00000271450	Transcript	missense_variant	missense_variant	933/2412	895/954	299/317	D/Y	Gat/Tat		1		1	FCGR2A	HGNC	HGNC:3616	protein_coding	YES	CCDS44264.1	ENSP00000271450	P12318		UPI000013D8DE	NM_001136219.1;NM_201563.5	deleterious_low_confidence(0.02)	probably_damaging(0.995)	7/7																			MODERATE	1	SNV	1			1											PASS	CTGACGATGAT	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	T	3	4	4	161518089	161518089	G	T	1	0	0	0	0	1	0	0	0	5644	1058	37	5		5	FCGR2A	1	161518089	Missense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	13759120	161518089	87438333	2	37											
SF3B1	23451	BI	GRCh38	chr2	197402636	197402636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctatctgttgtacaatcTtaataccagtgtgtctcgct	7	9	3	0	rs374250186	byCluster;byFrequency	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.1997A>C	p.Lys666Thr	p.K666T	ENST00000335508	14/25	64	34	30	59			SF3B1,missense_variant,p.K666T,ENST00000335508,NM_012433.2,c.1997A>C,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	G	ENST00000335508	Transcript	missense_variant	missense_variant	2089/6526	1997/3915	666/1304	K/T	aAg/aCg	rs374250186	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(0.994)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	2.471e-05	2.473e-05	0	0	0	0	4.497e-05	0	0		PASS	CAATCTTAATA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM131556	True	Unknown	G	3	3	4	197402636	197402636	T	G	1	0	0	0	0	1	0	0	0	14428	1609	56	5		5	SF3B1	2	197402636	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08		197402636	44790893	3	38											
SMARCC1	6599	BI	GRCh38	chr3	47588283	47588283	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtggtggcggtgGctgctgctgtggtggagggg	24	5	0	0	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.3244C>A	p.Pro1082Thr	p.P1082T	ENST00000254480	28/28	35	32	3	38			SMARCC1,missense_variant,p.P1082T,ENST00000254480,NM_003074.3,c.3244C>A,MODERATE,YES,deleterious_low_confidence(0.05),unknown(0),-1;SMARCC1,non_coding_transcript_exon_variant,,ENST00000425518,,n.3134C>A,MODIFIER,,,,-1;SMARCC1,downstream_gene_variant,,ENST00000492896,,,MODIFIER,,,,-1	T	ENST00000254480	Transcript	missense_variant	missense_variant	3364/6375	3244/3318	1082/1105	P/T	Cca/Aca		1		-1	SMARCC1	HGNC	HGNC:11104	protein_coding	YES	CCDS2758.1	ENSP00000254480	Q92922		UPI000013CE3B	NM_003074.3	deleterious_low_confidence(0.05)	unknown(0)	28/28		Low_complexity_(Seg):Seg;Prints_domain:PR01217;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CGGTGGCTGCT	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			False	Unknown	T	3	4	4	47588283	47588283	G	T	1	0	0	0	0	1	0	0	0	15068	1203	42	5		5	SMARCC1	3	47588283	Missense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08		47588283	150707276	4	39											
LRRC66	339977	BI	GRCh38	chr4	51995707	51995707	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacttggcgcagatgggtctCtgggtgtggtgtgtgccccg	17	9	1	1			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.1315G>C	p.Glu439Gln	p.E439Q	ENST00000343457	4/4	158	110	48	128			LRRC66,missense_variant,p.E439Q,ENST00000343457,NM_001024611.1,c.1315G>C,MODERATE,YES,tolerated(0.59),benign(0.008),-1	G	ENST00000343457	Transcript	missense_variant	missense_variant	1322/3327	1315/2643	439/880	E/Q	Gag/Cag		1		-1	LRRC66	HGNC	HGNC:34299	protein_coding	YES	CCDS43229.1	ENSP00000341944	Q68CR7		UPI0000425C5B	NM_001024611.1	tolerated(0.59)	benign(0.008)	4/4																			MODERATE	1	SNV	1			1											PASS	GGTCTCTGGGT	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM1666749	True	Unknown	G	3	3	4	51995707	51995707	C	G	1	0	0	0	0	1	0	0	0	8914	922	32	5		5	LRRC66	4	51995707	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		51995707	138218848	5	40											
FAT4	79633	BI	GRCh38	chr4	125452580	125452580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtgtctgccaggatatgCgggtagctggtgtgaaatag	15	6	1	1	rs536513777	by1000G	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.11564C>T	p.Ala3855Val	p.A3855V	ENST00000394329	9/17	54	40	14	39			FAT4,missense_variant,p.A3855V,ENST00000394329,NM_024582.4&NM_001291303.1&NM_001291285.1,c.11564C>T,MODERATE,YES,,benign(0.036),1;FAT4,missense_variant,p.A2153V,ENST00000335110,,c.6458C>T,MODERATE,,tolerated(0.11),benign(0.115),1;FAT4,downstream_gene_variant,,ENST00000509444,,,MODIFIER,,,,1	T	ENST00000394329	Transcript	missense_variant	missense_variant	11577/16123	11564/14946	3855/4981	A/V	gCg/gTg	rs536513777	1		1	FAT4	HGNC	HGNC:23109	protein_coding	YES	CCDS3732.3	ENSP00000377862	Q6V0I7		UPI000155D6E3	NM_024582.4;NM_001291303.1;NM_001291285.1		benign(0.036)	9/17		PROSITE_profiles:PS50311;PROSITE_profiles:PS50026;SMART_domains:SM00181;Superfamily_domains:SSF57196	2e-04	0	0		0.001	0	0										MODERATE	1	SNV	5			1											PASS	ATATGCGGGTA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM1131262;COSM1131263	True	Unknown	T	3	4	4	125452580	125452580	C	T	1	0	0	0	0	1	0	0	0	5552	768	27	2		2	FAT4	4	125452580	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08	73456873	125452580	64761975	6	41											
SNX18	112574	BI	GRCh38	chr5	54543372	54543372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacaacaacaaataatAtttttccaaaaagttaccca	1	9	1	0	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.1815A>G	p.Ile605Met	p.I605M	ENST00000381410	2/2	52	41	11	78			SNX18,missense_variant,p.I605M,ENST00000381410,NM_001102575.1,c.1815A>G,MODERATE,,tolerated(0.11),benign(0.083),1;SNX18,3_prime_UTR_variant,,ENST00000343017,NM_001145427.1,c.*192A>G,MODIFIER,,,,1	G	ENST00000381410	Transcript	missense_variant	missense_variant	2005/5218	1815/1875	605/624	I/M	atA/atG		1		1	SNX18	HGNC	HGNC:19245	protein_coding		CCDS43317.1	ENSP00000370817	Q96RF0		UPI00001A8545	NM_001102575.1	tolerated(0.11)	benign(0.083)	2/2		Low_complexity_(Seg):Seg;Pfam_domain:PF10456;PIRSF_domain:PIRSF027744																	MODERATE	1	SNV	1			1											PASS	ATAATATTTTT	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	G	3	3	4	54543372	54543372	A	G	1	0	0	0	0	1	0	0	0	15210	439	16	4		4	SNX18	5	54543372	Missense_Mutation	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		54543372	126994887	7	42											
TFAP2B	7021	BI	GRCh38	chr6	50837983	50837983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcaatttcagagccaaatCgaaaaatggggggagatctt	11	6	2	2	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.830C>T	p.Ser277Leu	p.S277L	ENST00000393655	5/7	138	125	13	88			TFAP2B,missense_variant,p.S277L,ENST00000393655,NM_003221.3,c.830C>T,MODERATE,YES,deleterious(0),probably_damaging(0.983),1	T	ENST00000393655	Transcript	missense_variant	missense_variant	999/5773	830/1383	277/460	S/L	tCg/tTg		1		1	TFAP2B	HGNC	HGNC:11743	protein_coding	YES	CCDS4934.2	ENSP00000377265	Q92481			NM_003221.3	deleterious(0)	probably_damaging(0.983)	5/7		Pfam_domain:PF03299;Prints_domain:PR01748																	MODERATE	1	SNV	1			1											PASS	CAAATCGAAAA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	T	3	4	4	50837983	50837983	C	T	1	0	0	0	0	1	0	0	0	16221	893	31	2		2	TFAP2B	6	50837983	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		50837983	119967996	8	43											
DLL1	28514	BI	GRCh38	chr6	170285392	170285392	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggtggctccattcttGcagggcttatggtgtgtgca	15	8	1	0			TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.894C>A	p.Cys298Ter	p.C298*	ENST00000366756	7/11	47	17	30	51			DLL1,stop_gained,p.C298*,ENST00000366756,NM_005618.3,c.894C>A,HIGH,YES,,,-1;DLL1,downstream_gene_variant,,ENST00000630500,,,MODIFIER,,,,-1	T	ENST00000366756	Transcript	stop_gained	stop_gained	1228/3174	894/2172	298/723	C/*	tgC/tgA		1		-1	DLL1	HGNC	HGNC:2908	protein_coding	YES	CCDS5313.1	ENSP00000355718	O00548		UPI000004C656	NM_005618.3			7/11		Pfam_domain:PF00008;Pfam_domain:PF07645;PROSITE_profiles:PS50311;PROSITE_profiles:PS50026;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196																	HIGH	1	SNV	1			1											PASS	TTCTTGCAGGG	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM1666750	True	Unknown	T	4	4	4	170285392	170285392	G	T	1	0	0	0	0	0	1	0	0	4373	1311	46	5		5	DLL1	6	170285392	Nonsense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	119447409	170285392	520587	9	44											
ZAN	7455	BI	GRCh38	chr7	100747558	100747558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcactgcagggagtatcCggaaacacactctcttctca	7	13	3	0	rs764974438	byCluster;byFrequency	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.940C>T	p.Arg314Trp	p.R314W	ENST00000613979	9/48	45	27	18	67			ZAN,missense_variant,p.R314W,ENST00000613979,NM_003386.1,c.940C>T,MODERATE,YES,,benign(0.066),1;ZAN,missense_variant,p.R314W,ENST00000618565,,c.940C>T,MODERATE,,,benign(0.066),1;ZAN,missense_variant,p.R314W,ENST00000620596,NM_173059.1,c.940C>T,MODERATE,,,possibly_damaging(0.584),1;ZAN,missense_variant,p.R314W,ENST00000546292,,c.940C>T,MODERATE,,,possibly_damaging(0.584),1;ZAN,missense_variant,p.R314W,ENST00000542585,,c.940C>T,MODERATE,,,benign(0.002),1;ZAN,missense_variant,p.R314W,ENST00000538115,,c.940C>T,MODERATE,,deleterious(0),possibly_damaging(0.885),1;ZAN,missense_variant,p.R314W,ENST00000546213,,c.940C>T,MODERATE,,deleterious(0),unknown(0),1;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,,n.1105C>T,MODIFIER,,,,1	T	ENST00000613979	Transcript	missense_variant	missense_variant	1105/8669	940/8439	314/2812	R/W	Cgg/Tgg	rs764974438	1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.1		benign(0.066)	9/48		Pfam_domain:PF00629;PROSITE_profiles:PS50060;SMART_domains:SM00137;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1	4.136e-05	4.141e-05	0	0.0001729	0	0	2.997e-05	0	6.057e-05		PASS	GTATCCGGAAA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM1666753	True	Unknown	T	3	4	4	100747558	100747558	C	T	1	0	0	0	0	1	0	0	0	18074	643	23	2		2	ZAN	7	100747558	Missense_Mutation	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		100747558	58598415	10	45											
UBR5	51366	BI	GRCh38	chr8	102277085	102277085	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccctggttttgaactctcAgtttcttctggcagcacggg	12	11	3	1	rs777572603		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.6396T>C	p.=	p.T2132T	ENST00000520539	45/59	169	114	55	88			UBR5,synonymous_variant,p.T2132T,ENST00000520539,NM_015902.5,c.6396T>C,LOW,YES,,,-1;UBR5,synonymous_variant,p.T2132T,ENST00000220959,NM_001282873.1,c.6396T>C,LOW,,,,-1;UBR5,synonymous_variant,p.T2126T,ENST00000521922,,c.6378T>C,LOW,,,,-1;UBR5,upstream_gene_variant,,ENST00000518205,,,MODIFIER,,,,-1;UBR5,upstream_gene_variant,,ENST00000521566,,,MODIFIER,,,,-1	G	ENST00000520539	Transcript	synonymous_variant	synonymous_variant	7003/10297	6396/8400	2132/2799	T	acT/acC	rs777572603	1		-1	UBR5	HGNC	HGNC:16806	protein_coding	YES	CCDS34933.1	ENSP00000429084	O95071		UPI0000129BCB	NM_015902.5			45/59																			LOW	1	SNV	1			1	8.236e-06	8.237e-06	0	0	0	0	1.498e-05	0	0		PASS	CTCTCAGTTTC	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	G	2	3	4	102277085	102277085	A	G	1	0	0	0	0	0	0	0	1	17429	175	7	4		4	UBR5	8	102277085	Silent	SNP	A	TCGA-V4-A9E5-01A-11D-A39W-08		102277085	42861551	11	46											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	72	50	22	90			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110		COSM28758	True	Unknown	G	3	3	4	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9E5-01A-11D-A39W-08		77794572	60600145	12	47											
KRTAP4-9	100132386	BI	GRCh38	chr17	41105510	41105510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaccacctgctgccGccccagctgttgtgtatcca	10	16	0	0	rs184201255	by1000G;byCluster;byFrequency	TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.122G>A	p.Arg41His	p.R41H	ENST00000391415	1/1	18	10	8	46			KRTAP4-9,missense_variant,p.R41H,ENST00000391415,NM_001146041.1,c.122G>A,MODERATE,YES,deleterious(0.02),unknown(0),1;KRTAP4-9,missense_variant,p.R41H,ENST00000617453,,c.122G>A,MODERATE,,deleterious(0.03),unknown(0),1;KRTAP4-7,intron_variant,,ENST00000612231,,c.342-235G>A,MODIFIER,,,,1;KRTAP4-16P,upstream_gene_variant,,ENST00000440582,,,MODIFIER,YES,,,-1	A	ENST00000391415	Transcript	missense_variant	missense_variant	179/1157	122/633	41/210	R/H	cGc/cAc	rs184201255	1		1	KRTAP4-9	HGNC	HGNC:18910	protein_coding	YES	CCDS54124.1	ENSP00000375234	Q9BYQ8		UPI000021D2D3	NM_001146041.1	deleterious(0.02)	unknown(0)	1/1		Low_complexity_(Seg):Seg;Pfam_domain:PF01500;PROSITE_profiles:PS50311	0.0026	0.0091	0		0	0	0.001	0.0108	0								MODERATE	1	SNV				1	0.001003	0.001019	0.01183	0.0006381	0	0	1.522e-05	0.002252	0.0001217		panel_of_normals	CTGCCGCCCCA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110	common_in_exac;gdc_pon		True	Unknown	A	3	1	4	41105510	41105510	G	A	1	0	0	0	0	1	0	0	0	8452	1087	38	2		2	KRTAP4-9	17	41105510	Missense_Mutation	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08		41105510	42151931	13	48											
SSX5	6758	BI	GRCh38	chrX	48195080	48195080	+	Intron	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaccttccagaacggaCtgagattcaccaaatgtatt	6	12	1	2	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.69+210G>C			ENST00000347757		105	74	31	70			SSX5,missense_variant,p.S40T,ENST00000311798,NM_021015.3,c.119G>C,MODERATE,YES,tolerated_low_confidence(0.51),benign(0.003),-1;SSX5,intron_variant,,ENST00000347757,NM_175723.1,c.69+210G>C,MODIFIER,,,,-1;SSX5,intron_variant,,ENST00000376923,,c.69+210G>C,MODIFIER,,,,-1;SSX5,intron_variant,,ENST00000613884,,c.185-856G>C,MODIFIER,,,,-1;SSX5,upstream_gene_variant,,ENST00000403001,,,MODIFIER,,,,-1;RP11-552E4.2,upstream_gene_variant,,ENST00000437312,,,MODIFIER,YES,,,1	G	ENST00000347757	Transcript	intron_variant	intron_variant	-/1261	-/567	-/188				1		-1	SSX5	HGNC	HGNC:11339	protein_coding		CCDS14289.1	ENSP00000290558	O60225		UPI000013DFFA	NM_175723.1				2/7																		MODIFIER		SNV	5			1											PASS	ACGGACTGAGA	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	G	1	3	4	48195080	48195080	C	G	0	1	0	0	0	0	0	0	0	15586	565	20	5		5	SSX5	23	48195080	Intron	SNP	C	TCGA-V4-A9E5-01A-11D-A39W-08		48195080	107845815	14	49											
TSC22D3	1831	BI	GRCh38	chrX	107775275	107775275	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagcttttcctgcagctgccGaaagttgctcactgtagggc	11	12	1	0	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.145C>A	p.=	p.R49R	ENST00000372383	1/3	96	38	58	67			TSC22D3,synonymous_variant,p.R49R,ENST00000372383,NM_198057.2,c.145C>A,LOW,YES,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000315660,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000372384,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000506081,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000514897,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000510887,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000502650,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000480691,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000506724,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000502961,,c.145C>A,LOW,,,,-1;TSC22D3,synonymous_variant,p.R49R,ENST00000505965,,c.145C>A,LOW,,,,-1;TSC22D3,5_prime_UTR_variant,,ENST00000514426,,c.-60C>A,MODIFIER,,,,-1;NCBP2L,upstream_gene_variant,,ENST00000509000,,,MODIFIER,YES,,,1	T	ENST00000372383	Transcript	synonymous_variant	synonymous_variant	513/2266	145/603	49/200	R	Cgg/Agg		1		-1	TSC22D3	HGNC	HGNC:3051	protein_coding	YES	CCDS14530.1	ENSP00000361458	Q99576		UPI000006DE94	NM_198057.2			1/3																			LOW	1	SNV	2			1											PASS	CTGCCGAAAGT	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	T	2	4	4	107775275	107775275	G	T	1	0	0	0	0	0	0	0	1	17115	1057	37	5		5	TSC22D3	23	107775275	Silent	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	59580195	107775275	48265620	15	50											
GPR101	83550	BI	GRCh38	chrX	137031333	137031333	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgttgacgctggcgaaggcGaacaggtgggtgaggctaac	18	7	0	2	novel		TCGA-V4-A9E5-01A-11D-A39W-08	TCGA-V4-A9E5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a5d231e0-a1cb-491f-aefe-5b9013e11d6c	e246f8fd-514c-4062-9a56-d9f7dd8c8e05	c.342C>T	p.=	p.F114F	ENST00000298110	1/1	22	8	14	24			GPR101,synonymous_variant,p.F114F,ENST00000298110,NM_054021.1,c.342C>T,LOW,YES,,,-1	A	ENST00000298110	Transcript	synonymous_variant	synonymous_variant	342/1527	342/1527	114/508	F	ttC/ttT		1		-1	GPR101	HGNC	HGNC:14963	protein_coding	YES	CCDS14662.1	ENSP00000298110	Q96P66		UPI000003BCCD	NM_054021.1			1/1		Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10323;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV				1											PASS	AAGGCGAACAG	10c91a11-1860-4a22-b0da-c9e4c0afe55b	39e8284e-0221-4226-a554-3437a3fd9a9b	84f9c2f7-2f72-418c-90b1-b00e32c1c26a	029cc59c-60df-4411-a044-3a2eeee7b110			True	Unknown	A	2	1	4	137031333	137031333	G	A	1	0	0	0	0	0	0	0	1	6524	1049	37	2		2	GPR101	23	137031333	Silent	SNP	G	TCGA-V4-A9E5-01A-11D-A39W-08	29256058	137031333	19009562	16	51											
IL1R1	3554	BI	GRCh38	chr2	102176594	102176594	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaacatggggctatccgctgGtcaggggactttacacaggg	14	9	1	0	rs753616565	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1545G>C	p.Trp515Cys	p.W515C	ENST00000410023	12/12	18	14	4	30			IL1R1,missense_variant,p.W515C,ENST00000410023,NM_000877.3,c.1545G>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;IL1R1,missense_variant,p.W484C,ENST00000409929,NM_001288706.1,c.1452G>C,MODERATE,,deleterious(0),probably_damaging(1),1;IL1R1,3_prime_UTR_variant,,ENST00000424272,,c.*908G>C,MODIFIER,,,,1;IL1R1,intron_variant,,ENST00000409589,,c.487-608G>C,MODIFIER,,,,1;IL1R1,downstream_gene_variant,,ENST00000409329,,,MODIFIER,,,,1;IL1R1,downstream_gene_variant,,ENST00000409288,,,MODIFIER,,,,1;IL1R1,downstream_gene_variant,,ENST00000428279,,,MODIFIER,,,,1;AC007271.3,intron_variant,,ENST00000428188,,n.305+3318C>G,MODIFIER,YES,,,-1;IL1R1,3_prime_UTR_variant,,ENST00000413623,,c.*995G>C,MODIFIER,,,,1;IL1R1,downstream_gene_variant,,ENST00000422532,,,MODIFIER,,,,1	C	ENST00000410023	Transcript	missense_variant	missense_variant	1863/5143	1545/1710	515/569	W/C	tgG/tgC	rs753616565	1		1	IL1R1	HGNC	HGNC:5993	protein_coding	YES	CCDS2055.1	ENSP00000386380	P14778		UPI0000034759	NM_000877.3	deleterious(0)	probably_damaging(1)	12/12		Pfam_domain:PF01582;PROSITE_profiles:PS50104;SMART_domains:SM00255;Superfamily_domains:SSF52200;Prints_domain:PR01537																	MODERATE	1	SNV	1			1	4.118e-05	4.124e-05	0	0.0004326	0	0	0	0	0		PASS	CGCTGGTCAGG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd	common_in_exac		True	Unknown	C	3	2	5	102176594	102176594	G	C	1	0	0	0	0	1	0	0	0	7561	1270	44	5		5	IL1R1	2	102176594	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		102176594	140016935	1	52											
ATP13A5	344905	BI	GRCh38	chr3	193354174	193354174	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatttcaacctcaatggCgttgggcccacacactaatc	8	12	2	0	rs747489400	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.559G>A	p.Ala187Thr	p.A187T	ENST00000342358	6/30	58	7	51	78			ATP13A5,missense_variant,p.A187T,ENST00000342358,NM_198505.2,c.559G>A,MODERATE,YES,tolerated(0.77),benign(0.078),-1	T	ENST00000342358	Transcript	missense_variant	missense_variant	677/4027	559/3657	187/1218	A/T	Gcc/Acc	rs747489400	1		-1	ATP13A5	HGNC	HGNC:31789	protein_coding	YES	CCDS33914.1	ENSP00000341942	Q4VNC0		UPI000050EC1D	NM_198505.2	tolerated(0.77)	benign(0.078)	6/30		Pfam_domain:PF00690;TIGRFAM_domain:TIGR01657;Superfamily_domains:SSF81665																	MODERATE	1	SNV	1			1	1.647e-05	1.65e-05	0	0	0	0	3.001e-05	0	0		PASS	AATGGCGTTGG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	193354174	193354174	C	T	1	0	0	0	0	1	0	0	0	1279	768	27	2		2	ATP13A5	3	193354174	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		193354174	4941385	2	53											
TNPO1	3842	BI	GRCh38	chr5	72888190	72888190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgctggactcttagccgCtatgcacactgggtggtcag	12	11	2	0	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1416C>T	p.=	p.R472R	ENST00000337273	13/25	101	64	37	89			TNPO1,synonymous_variant,p.R472R,ENST00000337273,NM_002270.3,c.1416C>T,LOW,YES,,,1;TNPO1,synonymous_variant,p.R464R,ENST00000506351,NM_153188.2,c.1392C>T,LOW,,,,1;TNPO1,synonymous_variant,p.R422R,ENST00000523768,,c.1266C>T,LOW,,,,1;TNPO1,downstream_gene_variant,,ENST00000505082,,,MODIFIER,,,,1	T	ENST00000337273	Transcript	synonymous_variant	synonymous_variant	1842/11183	1416/2697	472/898	R	cgC/cgT		1		1	TNPO1	HGNC	HGNC:6401	protein_coding	YES	CCDS43329.1	ENSP00000336712	Q92973	A0A024RAM0		NM_002270.3			13/25		Pfam_domain:PF02985;Superfamily_domains:SSF48371																	LOW	1	SNV	1			1											PASS	AGCCGCTATGC	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	2	4	5	72888190	72888190	C	T	1	0	0	0	0	0	0	0	1	16808	784	28	3		3	TNPO1	5	72888190	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		72888190	108650069	3	54											
CD109	135228	BI	GRCh38	chr6	73768188	73768188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatgatggggaaattataaGtgatgttctaaaaattcctg	10	3	1	3	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1631G>T	p.Ser544Ile	p.S544I	ENST00000287097	14/33	17	2	15	32			CD109,missense_variant,p.S544I,ENST00000437994,NM_001159587.1,c.1631G>T,MODERATE,,deleterious(0),benign(0.394),1;CD109,missense_variant,p.S467I,ENST00000422508,NM_001159588.1,c.1400G>T,MODERATE,,deleterious(0),benign(0.123),1;CD109,missense_variant,p.S544I,ENST00000287097,NM_133493.3,c.1631G>T,MODERATE,YES,deleterious(0),benign(0.094),1	T	ENST00000287097	Transcript	missense_variant	missense_variant	1743/9130	1631/4338	544/1445	S/I	aGt/aTt		1		1	CD109	HGNC	HGNC:21685	protein_coding	YES	CCDS4982.1	ENSP00000287097	Q6YHK3		UPI000013DE92	NM_133493.3	deleterious(0)	benign(0.094)	14/33		Pfam_domain:PF07703																	MODERATE	1	SNV	1			1											PASS	TATAAGTGATG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	73768188	73768188	G	T	1	0	0	0	0	1	0	0	0	2666	1029	36	5		5	CD109	6	73768188	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		73768188	97037791	4	55											
COL12A1	1303	BI	GRCh38	chr6	75181097	75181097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacctcatcatccccagccGcttccttgtaggtgatgtga	9	13	2	3	rs201657576	by1000G;byCluster;byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.2006C>T	p.Ala669Val	p.A669V	ENST00000322507	11/66	37	8	29	54			COL12A1,missense_variant,p.A669V,ENST00000322507,NM_004370.5,c.2006C>T,MODERATE,YES,,benign(0.012),-1;COL12A1,missense_variant,p.A669V,ENST00000483888,,c.2006C>T,MODERATE,,,benign(0.008),-1;COL12A1,missense_variant,p.A669V,ENST00000416123,,c.2006C>T,MODERATE,,,benign(0.013),-1;COL12A1,5_prime_UTR_variant,,ENST00000615798,,c.-1562C>T,MODIFIER,,,,-1;COL12A1,intron_variant,,ENST00000345356,NM_080645.2,c.73+21623C>T,MODIFIER,,,,-1;COL12A1,non_coding_transcript_exon_variant,,ENST00000486533,,n.1112C>T,MODIFIER,,,,-1	A	ENST00000322507	Transcript	missense_variant	missense_variant	2316/11723	2006/9192	669/3063	A/V	gCg/gTg	rs201657576	1		-1	COL12A1	HGNC	HGNC:2188	protein_coding	YES	CCDS43482.1	ENSP00000325146	Q99715		UPI000045890B	NM_004370.5		benign(0.012)	11/66		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265	4e-04	8e-04	0		0.001	0	0	5e-04	0								MODERATE	1	SNV	1			1	0.0001075	0.0001078	0.0008173	0	0.000116	0	5.997e-05	0	0		PASS	CAGCCGCTTCC	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd	common_in_exac		True	Unknown	A	3	1	5	75181097	75181097	G	A	1	0	0	0	0	1	0	0	0	3457	1087	38	2		2	COL12A1	6	75181097	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	1412909	75181097	95624882	5	56											
FBXO10	26267	BI	GRCh38	chr9	37518324	37518324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagatgctgttgttgGccactcgggtgggttggctg	18	7	0	1	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.2315C>T	p.Ala772Val	p.A772V	ENST00000432825	9/11	35	32	3	33			FBXO10,missense_variant,p.A772V,ENST00000432825,NM_012166.2,c.2315C>T,MODERATE,YES,tolerated(0.34),benign(0.018),-1;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000544475,,n.2443C>T,MODIFIER,,,,-1;RP11-613M10.8,non_coding_transcript_exon_variant,,ENST00000541804,,n.958C>T,MODIFIER,,,,-1;FBXO10,downstream_gene_variant,,ENST00000543968,,,MODIFIER,,,,-1;FBXO10,downstream_gene_variant,,ENST00000544208,,,MODIFIER,,,,-1;FBXO10,3_prime_UTR_variant,,ENST00000276960,,c.*522C>T,MODIFIER,,,,-1	A	ENST00000432825	Transcript	missense_variant	missense_variant	2364/4575	2315/2871	772/956	A/V	gCc/gTc		1		-1	FBXO10	HGNC	HGNC:13589	protein_coding	YES	CCDS47966.1	ENSP00000403802	Q9UK96		UPI00001C1EC6	NM_012166.2	tolerated(0.34)	benign(0.018)	9/11		SMART_domains:SM00722;SMART_domains:SM00710;Superfamily_domains:SSF51126																	MODERATE	1	SNV	1			1											PASS	TGTTGGCCACT	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	A	3	1	5	37518324	37518324	G	A	1	0	0	0	0	1	0	0	0	5589	1203	42	3		3	FBXO10	9	37518324	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		37518324	100876393	6	57											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	79	38	41	71			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd		COSM28757	True	Unknown	A	3	1	5	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08	40276248	77794572	60600145	7	58											
INPP5A	3632	BI	GRCh38	chr10	132781937	132781937	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagtgttgtgtcgtgcAgtgacgtggtggtaaatatg	15	5	0	1	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1235A>T	p.Gln412Leu	p.Q412L	ENST00000368594	15/16	111	66	45	103			INPP5A,missense_variant,p.Q412L,ENST00000368594,NM_005539.3,c.1235A>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.403),1;INPP5A,intron_variant,,ENST00000445580,,c.241+40A>T,MODIFIER,,,,1;NKX6-2,downstream_gene_variant,,ENST00000368592,NM_177400.2,,MODIFIER,YES,,,-1;INPP5A,downstream_gene_variant,,ENST00000368593,,,MODIFIER,,,,1;INPP5A,downstream_gene_variant,,ENST00000342652,,,MODIFIER,,,,1;NKX6-2,downstream_gene_variant,,ENST00000441365,,,MODIFIER,,,,-1	T	ENST00000368594	Transcript	missense_variant	missense_variant	1512/2967	1235/1239	412/412	Q/L	cAg/cTg		1		1	INPP5A	HGNC	HGNC:6076	protein_coding	YES	CCDS7669.2	ENSP00000357583	Q14642		UPI000012D085	NM_005539.3	deleterious_low_confidence(0)	benign(0.403)	15/16																			MODERATE	1	SNV	1			1											PASS	CGTGCAGTGAC	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	132781937	132781937	A	T	1	0	0	0	0	1	0	0	0	7657	188	7	5		5	INPP5A	10	132781937	Missense_Mutation	SNP	A	TCGA-V4-A9E7-01A-11D-A39W-08		132781937	1015485	8	59											
FAT3	120114	BI	GRCh38	chr11	92887054	92887054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcaggtagtaataaagGcagcaactctgaagttcagt	10	7	2	1	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.12542G>T	p.Gly4181Val	p.G4181V	ENST00000525166	24/27	22	13	9	10			FAT3,missense_variant,p.G4331V,ENST00000409404,NM_001008781.2,c.12992G>T,MODERATE,,,possibly_damaging(0.881),1;FAT3,missense_variant,p.G4181V,ENST00000525166,,c.12542G>T,MODERATE,YES,,possibly_damaging(0.89),1;FAT3,missense_variant,p.G666V,ENST00000533797,,c.1997G>T,MODERATE,,deleterious(0.01),probably_damaging(0.98),1;FAT3,non_coding_transcript_exon_variant,,ENST00000489716,,n.150G>T,MODIFIER,,,,1;FAT3,non_coding_transcript_exon_variant,,ENST00000469900,,n.190G>T,MODIFIER,,,,1	T	ENST00000525166	Transcript	missense_variant	missense_variant	12564/18699	12542/13320	4181/4439	G/V	gGc/gTc		1		1	FAT3	HGNC	HGNC:23112	protein_coding	YES		ENSP00000432586		E9PQ73	UPI0001F78895			possibly_damaging(0.89)	24/27																			MODERATE	1	SNV	5			1											PASS	TAAAGGCAGCA	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	92887054	92887054	G	T	1	0	0	0	0	1	0	0	0	5551	1203	42	5		5	FAT3	11	92887054	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08		92887054	42199568	9	60											
HEPHL1	341208	BI	GRCh38	chr11	94045691	94045691	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agacttgcaaccttatttctCgaaagagggcccaacaggat	9	10	1	2	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.189C>A	p.=	p.L63L	ENST00000315765	2/20	21	17	4	21			HEPHL1,synonymous_variant,p.L63L,ENST00000315765,NM_001098672.1,c.189C>A,LOW,YES,,,1	A	ENST00000315765	Transcript	synonymous_variant	synonymous_variant	197/5345	189/3480	63/1159	L	ctC/ctA		1		1	HEPHL1	HGNC	HGNC:30477	protein_coding	YES	CCDS44710.1	ENSP00000313699	Q6MZM0		UPI0000237563	NM_001098672.1			2/20		Superfamily_domains:SSF49503																	LOW	1	SNV	5			1											PASS	TTTCTCGAAAG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			False	Unknown	A	2	1	5	94045691	94045691	C	A	1	0	0	0	0	0	0	0	1	6939	871	31	5		5	HEPHL1	11	94045691	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	1158637	94045691	41040931	10	61											
OR6C65	403282	BI	GRCh38	chr12	55401361	55401361	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtagcagtgcttaatacctCtgttgctcctatgttgaatc	8	9	1	1	novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.833C>T	p.Ser278Phe	p.S278F	ENST00000379665	1/1	65	30	35	75			OR6C65,missense_variant,p.S278F,ENST00000379665,NM_001005518.1,c.833C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(1),1;OR6C73P,downstream_gene_variant,,ENST00000546432,,,MODIFIER,YES,,,1	T	ENST00000379665	Transcript	missense_variant	missense_variant	932/1076	833/939	278/312	S/F	tCt/tTt		1		1	OR6C65	HGNC	HGNC:31295	protein_coding	YES	CCDS31821.1	ENSP00000368986	A6NJZ3		UPI000044D410	NM_001005518.1	deleterious_low_confidence(0)	probably_damaging(1)	1/1		Pfam_domain:PF00001;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TACCTCTGTTG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	55401361	55401361	C	T	1	0	0	0	0	1	0	0	0	11263	913	32	3		3	OR6C65	12	55401361	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		55401361	77873948	11	62											
EP400	57634	BI	GRCh38	chr12	131961950	131961951	+	In_Frame_Ins	INS	-	-	TTTTTGGAG													aaatctgaggttatcaatgaINScgaggtaagaaacaggagtt					novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1331_1332insTTTTTGGAG	p.Asp444_Glu445insPheTrpSer	p.D444_E445insFWS	ENST00000389562	1/52	19	16	3	31			EP400,inframe_insertion,p.D444_E445insFWS,ENST00000389562,,c.1331_1332insTTTTTGGAG,MODERATE,YES,,,1;EP400,inframe_insertion,p.D444_E445insFWS,ENST00000389561,NM_015409.4,c.1331_1332insTTTTTGGAG,MODERATE,,,,1;EP400,inframe_insertion,p.D444_E445insFWS,ENST00000333577,,c.1331_1332insTTTTTGGAG,MODERATE,,,,1;EP400,inframe_insertion,p.D444_E445insFWS,ENST00000332482,,c.1331_1332insTTTTTGGAG,MODERATE,,,,1	TTTTTGGAG	ENST00000389562	Transcript	inframe_insertion	inframe_insertion	1366-1367/12836	1331-1332/9372	444/3123	D/DFWS	gac/gaTTTTTGGAGc		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC				1/52		Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313																	MODERATE	1	insertion	1			1											PASS	CAATGACGAGG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			False	Unknown	TTTTTGGAG	7	5	5	131961950	131961950	-	TTTTTGGAG	1	0	1	1	0	0	0	0	0	4995	289	10	0		0	EP400	12	131961950	In_Frame_Ins	INS	-	TCGA-V4-A9E7-01A-11D-A39W-08	76560589	131961950	1313359	12	63	1	2									
EP400	57634	BI	GRCh38	chr12	131961952	131961952	+	Missense_Mutation	SNP	G	G	C													aatctgaggttatcaatgacGaggtaagaaacaggagttaa					novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.1333G>C	p.Glu445Gln	p.E445Q	ENST00000389562	1/52	19	16	3	31			EP400,missense_variant,p.E445Q,ENST00000389562,,c.1333G>C,MODERATE,YES,,unknown(0),1;EP400,missense_variant,p.E445Q,ENST00000389561,NM_015409.4,c.1333G>C,MODERATE,,,unknown(0),1;EP400,missense_variant,p.E445Q,ENST00000333577,,c.1333G>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.132),1;EP400,missense_variant,p.E445Q,ENST00000332482,,c.1333G>C,MODERATE,,deleterious(0.02),unknown(0),1	C	ENST00000389562	Transcript	missense_variant	missense_variant;splice_region_variant	1368/12836	1333/9372	445/3123	E/Q	Gag/Cag		1		1	EP400	HGNC	HGNC:11958	protein_coding	YES	CCDS31929.2	ENSP00000374213	Q96L91		UPI00004566BC			unknown(0)	1/52		Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313																	MODERATE	1	SNV	1			1											PASS	ATGACGAGGTA	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			False	Unknown	C	3	2	5	131961952	131961952	G	C	1	0	0	0	0	1	0	0	0	4995	1072	37	5		5	EP400	12	131961952	Missense_Mutation	SNP	G	TCGA-V4-A9E7-01A-11D-A39W-08	2	131961952	1313357	13	64	1	2									
RAB2B	84932	BI	GRCh38	chr14	21468728	21468728	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgtagtaggaacgggtgaTagaacggaaggattcttgcc	14	7	1	2	rs780512676		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.211A>G	p.Ile71Val	p.I71V	ENST00000397762	4/8	63	34	29	34			RAB2B,missense_variant,p.I71V,ENST00000397762,NM_032846.3&NM_001163380.1,c.211A>G,MODERATE,YES,tolerated(0.46),possibly_damaging(0.539),-1;RAB2B,missense_variant,p.I71V,ENST00000622293,,c.211A>G,MODERATE,,tolerated(0.46),possibly_damaging(0.539),-1;RAB2B,non_coding_transcript_exon_variant,,ENST00000461909,,n.239A>G,MODIFIER,,,,-1;RAB2B,intron_variant,,ENST00000417141,,c.187-4961A>G,MODIFIER,,,,-1	C	ENST00000397762	Transcript	missense_variant	missense_variant	312/2928	211/651	71/216	I/V	Atc/Gtc	rs780512676	1		-1	RAB2B	HGNC	HGNC:20246	protein_coding	YES	CCDS9570.1	ENSP00000380869	Q8WUD1		UPI000013316C	NM_032846.3;NM_001163380.1	tolerated(0.46)	possibly_damaging(0.539)	4/8		Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;Pfam_domain:PF04670;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;SMART_domains:SM00176;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1	8.237e-06	8.623e-06	0	0	0	0	0	0	7.821e-05		PASS	GGTGATAGAAC	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	C	3	2	5	21468728	21468728	T	C	1	0	0	0	0	1	0	0	0	13077	1406	49	4		4	RAB2B	14	21468728	Missense_Mutation	SNP	T	TCGA-V4-A9E7-01A-11D-A39W-08		21468728	85574990	14	65											
FUK	197258	BI	GRCh38	chr16	70466182	70466182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctttcacctgcctcccCgtggagaaccccgaggcccc	11	18	1	1	rs770830036	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.336C>T	p.=	p.P112P	ENST00000288078	5/24	39	8	31	65			FUK,synonymous_variant,p.P112P,ENST00000288078,NM_145059.2,c.336C>T,LOW,YES,,,1;FUK,synonymous_variant,p.P144P,ENST00000378912,,c.432C>T,LOW,,,,1;FUK,synonymous_variant,p.P112P,ENST00000574784,,c.336C>T,LOW,,,,1;FUK,synonymous_variant,p.P112P,ENST00000576453,,c.336C>T,LOW,,,,1;FUK,synonymous_variant,p.P112P,ENST00000572784,,c.336C>T,LOW,,,,1;FUK,intron_variant,,ENST00000571514,,c.-697-2667C>T,MODIFIER,,,,1;FUK,downstream_gene_variant,,ENST00000573352,,,MODIFIER,,,,1;FUK,non_coding_transcript_exon_variant,,ENST00000464499,,n.394C>T,MODIFIER,,,,1;FUK,non_coding_transcript_exon_variant,,ENST00000571487,,n.343C>T,MODIFIER,,,,1;FUK,non_coding_transcript_exon_variant,,ENST00000576107,,n.394C>T,MODIFIER,,,,1	T	ENST00000288078	Transcript	synonymous_variant	synonymous_variant	568/4081	336/3255	112/1084	P	ccC/ccT	rs770830036	1		1	FUK	HGNC	HGNC:29500	protein_coding	YES	CCDS10891.2	ENSP00000288078	Q8N0W3		UPI000013DEF1	NM_145059.2			5/24		Pfam_domain:PF07959																	LOW	1	SNV	1			1	4.964e-05	4.979e-05	0	0	0	0.0001513	6.013e-05	0	6.058e-05		PASS	CTCCCCGTGGA	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	2	4	5	70466182	70466182	C	T	1	0	0	0	0	0	0	0	1	5967	639	23	2		2	FUK	16	70466182	Silent	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08		70466182	19872163	15	66											
ALKBH7	84266	BI	GRCh38	chr19	6374558	6374558	+	Frame_Shift_Del	DEL	T	T	-													cgggggagtggctggaactcTtgctggagccgggctccctc					novel		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.473delT	p.Leu158CysfsTer43	p.L158Cfs*43	ENST00000245812	3/4	36	15	21	38			ALKBH7,frameshift_variant,p.L158Cfs*43,ENST00000245812,NM_032306.3,c.473delT,HIGH,YES,,,1;ALKBH7,frameshift_variant,p.L16Cfs*43,ENST00000596657,,c.47delT,HIGH,,,,1;ALKBH7,frameshift_variant,p.L97Cfs*43,ENST00000599849,,c.290delT,HIGH,,,,1;PSPN,downstream_gene_variant,,ENST00000597721,,,MODIFIER,,,,-1;PSPN,downstream_gene_variant,,ENST00000245810,NM_004158.2,,MODIFIER,YES,,,-1	-	ENST00000245812	Transcript	frameshift_variant	frameshift_variant	860/1332	472/666	158/221	L/X	Ttg/tg		1		1	ALKBH7	HGNC	HGNC:21306	protein_coding	YES	CCDS12163.1	ENSP00000245812	Q9BT30		UPI0000039ED9	NM_032306.3			3/4		Low_complexity_(Seg):Seg;Superfamily_domains:SSF51197																	HIGH	1	deletion	1	1		1											PASS	GAACTCTTGCTG	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	-	7	5	5	6374558	6374558	T	-	1	0	1	0	1	0	0	0	0	632	1606	56	0		0	ALKBH7	19	6374558	Frame_Shift_Del	DEL	T	TCGA-V4-A9E7-01A-11D-A39W-08		6374558	52243058	16	67											
MUC16	94025	BI	GRCh38	chr19	8978725	8978725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgagagtgaggacaCtccctgctgtctcttcccct	11	13	1	2	rs773114784		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	c.2414G>A	p.Ser805Asn	p.S805N	ENST00000397910	1/84	166	93	73	122			MUC16,missense_variant,p.S805N,ENST00000397910,NM_024690.2,c.2414G>A,MODERATE,YES,,unknown(0),-1	T	ENST00000397910	Transcript	missense_variant	missense_variant	2618/43816	2414/43524	805/14507	S/N	aGt/aAt	rs773114784	1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008		B5ME49	UPI000065CA24	NM_024690.2		unknown(0)	1/84		PROSITE_profiles:PS50324;PROSITE_profiles:PS50325																	MODERATE	1	SNV	5			1	8.267e-06	8.28e-06	0	0	0	0	1.498e-05	0	0		PASS	GGACACTCCCT	74dac1cd-1ad8-44c9-ba2b-06940f5d80a0	c5e15197-cad3-48ab-9675-84e366a00ec2	07e38bfb-4e41-4d06-be95-b88319899f96	b5c516ba-4785-41dc-bd07-b129d47808dd			True	Unknown	T	3	4	5	8978725	8978725	C	T	1	0	0	0	0	1	0	0	0	9972	565	20	3		3	MUC16	19	8978725	Missense_Mutation	SNP	C	TCGA-V4-A9E7-01A-11D-A39W-08	2604167	8978725	49638891	17	68											
RYR2	6262	BI	GRCh38	chr1	237614294	237614294	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgccaggctcatgatgaaCaacgagtacattgtccccat	8	12	1	2	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.5166C>A	p.Asn1722Lys	p.N1722K	ENST00000366574	37/105	21	9	12	32			RYR2,missense_variant,p.N1722K,ENST00000366574,NM_001035.2,c.5166C>A,MODERATE,YES,,probably_damaging(0.996),1;RYR2,missense_variant,p.N1706K,ENST00000360064,,c.5118C>A,MODERATE,,,probably_damaging(0.979),1	A	ENST00000366574	Transcript	missense_variant	missense_variant	5483/16562	5166/14904	1722/4967	N/K	aaC/aaA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2		probably_damaging(0.996)	37/105																			MODERATE	1	SNV	1			1											PASS	ATGAACAACGA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	3	1	6	237614294	237614294	C	A	1	0	0	0	0	1	0	0	0	14029	477	17	5		5	RYR2	1	237614294	Missense_Mutation	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08		237614294	11342128	1	69											
OR2L3	391192	BI	GRCh38	chr1	248061557	248061557	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccatcatctatagcctgagGaacaaggaggtgatgggggc	14	9	2	2	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.876G>A	p.=	p.R292R	ENST00000359959	1/1	49	35	14	66			OR2L3,synonymous_variant,p.R292R,ENST00000359959,NM_001004687.1,c.876G>A,LOW,YES,,,1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2,c.-143-37094G>A,MODIFIER,YES,,,1	A	ENST00000359959	Transcript	synonymous_variant	synonymous_variant	876/939	876/939	292/312	R	agG/agA		1		1	OR2L3	HGNC	HGNC:15009	protein_coding	YES	CCDS31104.1	ENSP00000353044	Q8NG85			NM_001004687.1			1/1		Transmembrane_helices:Tmhmm;Prints_domain:PR00245;Prints_domain:PR00237;Superfamily_domains:SSF81321																	LOW	1	SNV				1											PASS	CTGAGGAACAA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	2	1	6	248061557	248061557	G	A	1	0	0	0	0	0	0	0	1	11086	1165	41	3		3	OR2L3	1	248061557	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	10447263	248061557	894865	2	70											
PSME4	23198	BI	GRCh38	chr2	53869402	53869402	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaggaatggtatctcctacaGaaccagggtctcgctttctt	9	10	3	1	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.5237C>T	p.Ser1746Phe	p.S1746F	ENST00000404125	44/47	187	130	57	199			PSME4,missense_variant,p.S1746F,ENST00000404125,NM_014614.2,c.5237C>T,MODERATE,YES,tolerated(0.25),benign(0.003),-1;PSME4,non_coding_transcript_exon_variant,,ENST00000476586,,n.410C>T,MODIFIER,,,,-1;PSME4,intron_variant,,ENST00000466539,,n.339-2522C>T,MODIFIER,,,,-1;PSME4,3_prime_UTR_variant,,ENST00000389993,,c.*3370C>T,MODIFIER,,,,-1;PSME4,non_coding_transcript_exon_variant,,ENST00000488687,,n.1559C>T,MODIFIER,,,,-1	A	ENST00000404125	Transcript	missense_variant	missense_variant	5293/7099	5237/5532	1746/1843	S/F	tCt/tTt		1		-1	PSME4	HGNC	HGNC:20635	protein_coding	YES	CCDS33197.2	ENSP00000384211	Q14997			NM_014614.2	tolerated(0.25)	benign(0.003)	44/47		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CTACAGAACCA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	3	1	6	53869402	53869402	G	A	1	0	0	0	0	1	0	0	0	12860	942	33	3		3	PSME4	2	53869402	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		53869402	188324127	3	71											
ZNF354C	30832	BI	GRCh38	chr5	179079833	179079833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagaaaccGtatcagtgtaatcagtgtgg	11	6	3	1	rs772333815	byFrequency	TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.1401G>A	p.=	p.P467P	ENST00000315475	5/5	58	38	20	63			ZNF354C,synonymous_variant,p.P467P,ENST00000315475,NM_014594.1,c.1401G>A,LOW,YES,,,1;RP11-281O15.7,downstream_gene_variant,,ENST00000523735,,,MODIFIER,YES,,,-1	A	ENST00000315475	Transcript	synonymous_variant	synonymous_variant	1707/5411	1401/1665	467/554	P	ccG/ccA	rs772333815	1		1	ZNF354C	HGNC	HGNC:16736	protein_coding	YES	CCDS4443.1	ENSP00000324064	Q86Y25		UPI0000161A6A	NM_014594.1			5/5		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	LOW	1	SNV	1			1	4.118e-05	4.129e-05	0	0	0.0001156	0	4.498e-05	0	6.06e-05		PASS	AAACCGTATCA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441		COSM4655943	True	Unknown	A	2	1	6	179079833	179079833	G	A	1	0	0	0	0	0	0	0	1	18438	1132	40	1		1	ZNF354C	5	179079833	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		179079833	2458426	4	72											
PPP1R18	170954	BI	GRCh38	chr6	30685956	30685956	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttctctcggcctcgaacGgacgcctcctcctgccggcg	11	18	1	0	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.63C>A	p.=	p.S21S	ENST00000274853	1/3	159	81	78	148			PPP1R18,synonymous_variant,p.S21S,ENST00000274853,NM_133471.3,c.63C>A,LOW,YES,,,-1;PPP1R18,synonymous_variant,p.S21S,ENST00000615527,,c.63C>A,LOW,,,,-1;PPP1R18,synonymous_variant,p.S21S,ENST00000399199,NM_001134870.1,c.63C>A,LOW,,,,-1;NRM,downstream_gene_variant,,ENST00000259953,NM_007243.2,,MODIFIER,YES,,,-1;NRM,downstream_gene_variant,,ENST00000376421,NM_001270707.1,,MODIFIER,,,,-1;PPP1R18,upstream_gene_variant,,ENST00000615892,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000444096,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000376420,NM_001270709.1,,MODIFIER,,,,-1;AL662797.1,downstream_gene_variant,,ENST00000620079,,,MODIFIER,YES,,,1;PPP1R18,intron_variant,,ENST00000488324,,n.80+1158C>A,MODIFIER,,,,-1;PPP1R18,intron_variant,,ENST00000467662,,n.45+1158C>A,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000470733,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000462857,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000495946,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000482141,,,MODIFIER,,,,-1;NRM,downstream_gene_variant,,ENST00000474864,,,MODIFIER,,,,-1	T	ENST00000274853	Transcript	synonymous_variant	synonymous_variant	1940/4599	63/1842	21/613	S	tcC/tcA		1		-1	PPP1R18	HGNC	HGNC:29413	protein_coding	YES	CCDS43444.1	ENSP00000274853	Q6NYC8	A0A024RCJ8	UPI00001C1E5E	NM_133471.3			1/3																			LOW	1	SNV	1			1											PASS	CGAACGGACGC	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	T	2	4	6	30685956	30685956	G	T	1	0	0	0	0	0	0	0	1	12478	1103	39	5		5	PPP1R18	6	30685956	Silent	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		30685956	140120023	5	73											
SLC7A2	6542	BI	GRCh38	chr8	17560421	17560421	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaacctcgaagagtgagtcCcaggtcaccatgctgcagag	12	11	1	3	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.1392C>A	p.=	p.S464S	ENST00000494857	10/13	80	40	40	59			SLC7A2,synonymous_variant,p.S503S,ENST00000470360,,c.1509C>A,LOW,,,,1;SLC7A2,synonymous_variant,p.S464S,ENST00000494857,NM_001008539.3,c.1392C>A,LOW,,,,1;SLC7A2,synonymous_variant,p.S504S,ENST00000004531,NM_001164771.1,c.1512C>A,LOW,YES,,,1;SLC7A2,synonymous_variant,p.S503S,ENST00000398090,NM_003046.5,c.1509C>A,LOW,,,,1;SLC7A2,synonymous_variant,p.S464S,ENST00000522656,,c.1392C>A,LOW,,,,1	A	ENST00000494857	Transcript	synonymous_variant	synonymous_variant	1610/7622	1392/1977	464/658	S	tcC/tcA		1		1	SLC7A2	HGNC	HGNC:11060	protein_coding		CCDS34852.1	ENSP00000419140	P52569		UPI000035CC54	NM_001008539.3			10/13		TIGRFAM_domain:TIGR00906;PIRSF_domain:PIRSF006060																	LOW		SNV	5			1											PASS	GAGTCCCAGGT	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	2	1	6	17560421	17560421	C	A	1	0	0	0	0	0	0	0	1	14980	610	22	5		5	SLC7A2	8	17560421	Silent	SNP	C	TCGA-V4-A9E8-01A-11D-A39W-08		17560421	127578215	6	74											
ADAMTSL1	92949	BI	GRCh38	chr9	18721578	18721578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaacaaacagactcGggagcctgctgaggagaacc	12	11	0	4	rs200488775	byCluster	TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.1919G>A	p.Arg640Gln	p.R640Q	ENST00000380548	15/29	86	52	34	122			ADAMTSL1,missense_variant,p.R640Q,ENST00000380548,NM_001040272.5,c.1919G>A,MODERATE,YES,tolerated(0.69),benign(0.06),1;ADAMTSL1,missense_variant,p.R640Q,ENST00000276935,,c.1919G>A,MODERATE,,tolerated(0.52),benign(0.003),1;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,,n.451G>A,MODIFIER,,,,1;RAP1BP1,upstream_gene_variant,,ENST00000412709,,,MODIFIER,YES,,,-1	A	ENST00000380548	Transcript	missense_variant	missense_variant	2258/8030	1919/5289	640/1762	R/Q	cGg/cAg	rs200488775	1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5	tolerated(0.69)	benign(0.06)	15/29		PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1	4.942e-05	4.946e-05	0	0	0	0	4.501e-05	0.001101	0.0001212		panel_of_normals	GACTCGGGAGC	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441	common_in_exac;gdc_pon		True	Unknown	A	3	1	6	18721578	18721578	G	A	1	0	0	0	0	1	0	0	0	318	1116	39	2		2	ADAMTSL1	9	18721578	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		18721578	119673139	7	75											
MICU1	10367	BI	GRCh38	chr10	72563052	72563052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtctacacatggtggagatTctgcatgggccctggatatg	13	8	2	1	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.173A>T	p.Glu58Val	p.E58V	ENST00000361114	3/12	19	12	7	31			MICU1,missense_variant,p.E58V,ENST00000398761,,c.173A>T,MODERATE,,tolerated_low_confidence(0.12),benign(0.281),-1;MICU1,missense_variant,p.E58V,ENST00000361114,NM_001195518.1&NM_006077.3,c.173A>T,MODERATE,YES,tolerated_low_confidence(0.12),benign(0.103),-1;MICU1,missense_variant,p.E24V,ENST00000603011,,c.71A>T,MODERATE,,tolerated(0.42),possibly_damaging(0.743),-1;MICU1,missense_variant,p.E58V,ENST00000604238,,c.173A>T,MODERATE,,,,-1;MICU1,non_coding_transcript_exon_variant,,ENST00000604025,,n.239A>T,MODIFIER,,,,-1;RP11-167P22.4,downstream_gene_variant,,ENST00000425543,,,MODIFIER,YES,,,1	A	ENST00000361114	Transcript	missense_variant	missense_variant	270/2383	173/1431	58/476	E/V	gAa/gTa		1		-1	MICU1	HGNC	HGNC:1530	protein_coding	YES	CCDS55715.1	ENSP00000354415	Q9BPX6		UPI0000035D9A	NM_001195518.1;NM_006077.3	tolerated_low_confidence(0.12)	benign(0.103)	3/12																			MODERATE	1	SNV	1			1											PASS	GAGATTCTGCA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	3	1	6	72563052	72563052	T	A	1	0	0	0	0	1	0	0	0	9533	1783	62	5		5	MICU1	10	72563052	Missense_Mutation	SNP	T	TCGA-V4-A9E8-01A-11D-A39W-08		72563052	61234370	8	76											
PLCE1	51196	BI	GRCh38	chr10	94132195	94132195	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tctacaatgcagtgagaagaGaagaaacagaaaatacagtt	9	5	1	4	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.1228G>C	p.Glu410Gln	p.E410Q	ENST00000260766	3/33	39	29	10	49			PLCE1,missense_variant,p.E410Q,ENST00000371380,,c.1228G>C,MODERATE,YES,tolerated_low_confidence(0.06),benign(0.005),1;PLCE1,missense_variant,p.E410Q,ENST00000260766,NM_001288989.1&NM_016341.3,c.1228G>C,MODERATE,,tolerated_low_confidence(0.06),benign(0.005),1;PLCE1,missense_variant,p.E102Q,ENST00000371375,,c.304G>C,MODERATE,,deleterious_low_confidence(0.05),benign(0.353),1;PLCE1,missense_variant,p.E102Q,ENST00000371385,NM_001165979.2,c.304G>C,MODERATE,,deleterious_low_confidence(0.05),benign(0.353),1	C	ENST00000260766	Transcript	missense_variant	missense_variant	1862/7992	1228/6909	410/2302	E/Q	Gaa/Caa		1		1	PLCE1	HGNC	HGNC:17175	protein_coding		CCDS41552.1	ENSP00000260766	Q9P212		UPI00001F93EE	NM_001288989.1;NM_016341.3	tolerated_low_confidence(0.06)	benign(0.005)	3/33		Superfamily_domains:SSF48366																	MODERATE		SNV	1			1											panel_of_normals	GAAGAGAAGAA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441	gdc_pon		True	Unknown	C	3	2	6	94132195	94132195	G	C	1	0	0	0	0	1	0	0	0	12128	943	33	5		5	PLCE1	10	94132195	Missense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08	21569143	94132195	39665227	9	77											
PLCB2	5330	BI	GRCh38	chr15	40302017	40302017	+	Frame_Shift_Del	DEL	A	A	-													acccgcttgcggtcagcaggAaacatctggaaaaagctgaa					novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.522delT	p.Pro175LeufsTer39	p.P175Lfs*39	ENST00000260402	7/32	10	5	5	45			PLCB2,frameshift_variant,p.P175Lfs*39,ENST00000260402,NM_004573.2,c.522delT,HIGH,YES,,,-1;PLCB2,frameshift_variant,p.P175Lfs*39,ENST00000557821,NM_001284297.1,c.522delT,HIGH,,,,-1;PLCB2,frameshift_variant,p.P175Lfs*39,ENST00000456256,NM_001284298.1,c.522delT,HIGH,,,,-1;PLCB2,frameshift_variant,p.P175Lfs*75,ENST00000543785,NM_001284299.1,c.522delT,HIGH,,,,-1;PLCB2-AS1,downstream_gene_variant,,ENST00000559520,,,MODIFIER,YES,,,1;PLCB2,non_coding_transcript_exon_variant,,ENST00000558588,,n.543delT,MODIFIER,,,,-1;PLCB2,upstream_gene_variant,,ENST00000560093,,,MODIFIER,,,,-1;PLCB2,downstream_gene_variant,,ENST00000559634,,,MODIFIER,,,,-1;PLCB2,upstream_gene_variant,,ENST00000558409,,,MODIFIER,,,,-1	-	ENST00000260402	Transcript	frameshift_variant	frameshift_variant	772/4616	522/3558	174/1185	F/X	ttT/tt		1		-1	PLCB2	HGNC	HGNC:9055	protein_coding	YES	CCDS42020.1	ENSP00000260402	Q00722		UPI0000D79B75	NM_004573.2			7/32		Superfamily_domains:SSF47473;PIRSF_domain:PIRSF000956																	HIGH	1	deletion	2			1											PASS	AGCAGGAAACAT	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			False	Unknown	-	7	5	6	40302017	40302017	A	-	1	0	1	0	1	0	0	0	0	12122	243	9	0		0	PLCB2	15	40302017	Frame_Shift_Del	DEL	A	TCGA-V4-A9E8-01A-11D-A39W-08		40302017	61689172	10	78											
NACA2	342538	BI	GRCh38	chr17	61591129	61591129	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtctcagcctgggactGcggcaactcctgctctgtag	11	15	2	0	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.52C>T	p.Gln18Ter	p.Q18*	ENST00000521764	1/1	52	31	21	66			NACA2,stop_gained,p.Q18*,ENST00000521764,NM_199290.3,c.52C>T,HIGH,YES,,,-1	A	ENST00000521764	Transcript	stop_gained	stop_gained	74/777	52/648	18/215	Q/*	Cag/Tag		1		-1	NACA2	HGNC	HGNC:23290	protein_coding	YES	CCDS11630.1	ENSP00000427802	Q9H009		UPI0000070B04	NM_199290.3			1/1		PIRSF_domain:PIRSF015901																	HIGH	1	SNV				1											PASS	GGACTGCGGCA	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	A	4	1	6	61591129	61591129	G	A	1	0	0	0	0	0	1	0	0	10140	1328	46	3		3	NACA2	17	61591129	Nonsense_Mutation	SNP	G	TCGA-V4-A9E8-01A-11D-A39W-08		61591129	21666312	11	79											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	41	27	14	69			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441		COSM52969	True	Unknown	T	3	4	6	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		3118944	55498672	12	80											
KDM6A	7403	BI	GRCh38	chrX	45059100	45059100	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatacatggtgttcaAtagggtaagcctttgtataa	11	5	1	1	novel		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	c.970A>G	p.Ile324Val	p.I324V	ENST00000377967	11/29	31	7	24	38			KDM6A,missense_variant,p.I300V,ENST00000611820,NM_001291415.1,c.898A>G,MODERATE,,deleterious(0.02),benign(0.186),1;KDM6A,missense_variant,p.I300V,ENST00000382899,NM_001291416.1,c.898A>G,MODERATE,,deleterious(0.03),probably_damaging(0.997),1;KDM6A,missense_variant,p.I300V,ENST00000543216,,c.898A>G,MODERATE,,deleterious(0),probably_damaging(0.997),1;KDM6A,missense_variant,p.I300V,ENST00000536777,NM_001291417.1,c.898A>G,MODERATE,,deleterious(0.01),probably_damaging(0.995),1;KDM6A,missense_variant,p.I324V,ENST00000377967,NM_021140.2,c.970A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.745),1;KDM6A,3_prime_UTR_variant,,ENST00000621147,,c.*201A>G,MODIFIER,,,,1;KDM6A,upstream_gene_variant,,ENST00000433797,,,MODIFIER,,,,1;KDM6A,upstream_gene_variant,,ENST00000414389,,,MODIFIER,,,,1;KDM6A,upstream_gene_variant,,ENST00000451692,,,MODIFIER,,,,1	G	ENST00000377967	Transcript	missense_variant	missense_variant	1011/5438	970/4206	324/1401	I/V	Ata/Gta		1		1	KDM6A	HGNC	HGNC:12637	protein_coding	YES	CCDS14265.1	ENSP00000367203	O15550		UPI000013DA92	NM_021140.2	deleterious(0)	possibly_damaging(0.745)	11/29		Pfam_domain:PF00515;PROSITE_profiles:PS50005;PROSITE_profiles:PS50293;SMART_domains:SM00028;Superfamily_domains:SSF81901;Superfamily_domains:SSF48452																	MODERATE	1	SNV	1			1											PASS	GTTCAATAGGG	19da5bd5-874c-4e36-b2cc-bc6cd8755d5d	0a2b41db-856c-4ef9-99e1-e343b6b4b60e	d676fd8f-d39a-40b5-ac75-2c2bc05f179f	df941bc1-6356-4f2e-a3f5-ae190266b441			True	Unknown	G	3	3	6	45059100	45059100	A	G	1	0	0	0	0	1	0	0	0	8055	115	4	4		4	KDM6A	23	45059100	Missense_Mutation	SNP	A	TCGA-V4-A9E8-01A-11D-A39W-08		45059100	110981795	13	81											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	58	36	22	93			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44		COSM255276	True	Unknown	T	3	4	7	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		197402759	44790770	1	82											
ADD1	118	BI	GRCh38	chr4	2875995	2875995	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	caaggagaggtacttcgaccGagtagatgagaacaacccag	12	9	0	3	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.80G>C	p.Arg27Pro	p.R27P	ENST00000398129	1/14	83	51	32	101			ADD1,missense_variant,p.R27P,ENST00000355842,NM_001286645.1,c.80G>C,MODERATE,,deleterious(0),possibly_damaging(0.841),1;ADD1,missense_variant,p.R27P,ENST00000398125,NM_176801.2,c.80G>C,MODERATE,,deleterious(0),possibly_damaging(0.841),1;ADD1,missense_variant,p.R27P,ENST00000264758,NM_014189.3,c.80G>C,MODERATE,YES,deleterious(0),probably_damaging(0.965),1;ADD1,missense_variant,p.R27P,ENST00000398129,NM_001119.4,c.80G>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;ADD1,missense_variant,p.R27P,ENST00000446856,,c.80G>C,MODERATE,,deleterious(0.01),probably_damaging(0.991),1;ADD1,missense_variant,p.R27P,ENST00000503455,,c.80G>C,MODERATE,,deleterious(0),possibly_damaging(0.841),1;ADD1,missense_variant,p.R27P,ENST00000513328,NM_014190.3,c.80G>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;ADD1,missense_variant,p.R27P,ENST00000398123,,c.80G>C,MODERATE,,deleterious(0),possibly_damaging(0.841),1;ADD1,missense_variant,p.R27P,ENST00000511797,,c.80G>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;ADD1,missense_variant,p.R27P,ENST00000508277,,c.80G>C,MODERATE,,,,1;ADD1,missense_variant,p.R27P,ENST00000510101,,c.80G>C,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.649),1;ADD1,non_coding_transcript_exon_variant,,ENST00000508684,,n.268G>C,MODIFIER,,,,1;ADD1,non_coding_transcript_exon_variant,,ENST00000503169,,n.355G>C,MODIFIER,,,,1;ADD1,non_coding_transcript_exon_variant,,ENST00000509039,,n.146G>C,MODIFIER,,,,1;ADD1,non_coding_transcript_exon_variant,,ENST00000540541,,n.136G>C,MODIFIER,,,,1	C	ENST00000398129	Transcript	missense_variant	missense_variant	100/3787	80/2214	27/737	R/P	cGa/cCa		1		1	ADD1	HGNC	HGNC:243	protein_coding		CCDS43205.1	ENSP00000381197	P35611			NM_001119.4	deleterious(0)	probably_damaging(0.999)	1/14																			MODERATE		SNV	2			1											PASS	CGACCGAGTAG	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	C	3	2	7	2875995	2875995	G	C	1	0	0	0	0	1	0	0	0	348	1058	37	5		5	ADD1	4	2875995	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		2875995	187338560	2	83											
CENPE	1062	BI	GRCh38	chr4	103141750	103141750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caatccccccataaaaatacCttttcttgtaatttagcatt	2	11	1	0	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.5463G>C	p.Lys1821Asn	p.K1821N	ENST00000265148	35/49	15	6	9	92			CENPE,missense_variant,p.K1821N,ENST00000265148,NM_001813.2,c.5463G>C,MODERATE,YES,,probably_damaging(0.959),-1;CENPE,missense_variant,p.K1821N,ENST00000611174,,c.5463G>C,MODERATE,,,possibly_damaging(0.61),-1;CENPE,missense_variant,p.K1796N,ENST00000380026,NM_001286734.1,c.5388G>C,MODERATE,,,probably_damaging(0.997),-1;CENPE,downstream_gene_variant,,ENST00000515478,,,MODIFIER,,,,-1	G	ENST00000265148	Transcript	missense_variant	missense_variant;splice_region_variant	5553/8612	5463/8106	1821/2701	K/N	aaG/aaC		1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2		probably_damaging(0.959)	35/49		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	2			1											PASS	AATACCTTTTC	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	G	3	3	7	103141750	103141750	C	G	1	0	0	0	0	1	0	0	0	2938	695	24	5		5	CENPE	4	103141750	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	100265755	103141750	87072805	3	84											
CSMD3	114788	BI	GRCh38	chr8	112689968	112689968	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactggcattcaaaccttaaAacatcacgattagaaaatcc	4	10	2	1	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.2055T>A	p.=	p.V685V	ENST00000297405	14/71	281	202	79	276			CSMD3,synonymous_variant,p.V685V,ENST00000297405,NM_198123.1,c.2055T>A,LOW,YES,,,-1;CSMD3,synonymous_variant,p.V645V,ENST00000343508,NM_198124.1,c.1935T>A,LOW,,,,-1;CSMD3,synonymous_variant,p.V581V,ENST00000455883,NM_052900.2,c.1743T>A,LOW,,,,-1;CSMD3,synonymous_variant,p.V25V,ENST00000339701,,c.75T>A,LOW,,,,-1	T	ENST00000297405	Transcript	synonymous_variant	synonymous_variant	2300/13212	2055/11124	685/3707	V	gtT/gtA		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1			14/71		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	LOW	1	SNV	1			1											PASS	CTTAAAACATC	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	T	2	4	7	112689968	112689968	A	T	1	0	0	0	0	0	0	0	1	3747	1	1	5		5	CSMD3	8	112689968	Silent	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08		112689968	32448668	4	85											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	117	67	50	141			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44		COSM28758	True	Unknown	G	3	3	7	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9E9-01A-11D-A39W-08		77794572	60600145	5	86											
ZNF484	83744	BI	GRCh38	chr9	92846506	92846506	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgatgctcatggagttgtgAtttcttaatgaaagacttgc	10	5	2	4	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.2281T>G	p.Ser761Ala	p.S761A	ENST00000375495	5/5	115	70	45	179			ZNF484,missense_variant,p.S725A,ENST00000395506,NM_001261459.1&NM_001261460.1,c.2173T>G,MODERATE,,deleterious(0.02),benign(0.138),-1;ZNF484,missense_variant,p.S763A,ENST00000395505,NM_001261458.1,c.2287T>G,MODERATE,YES,deleterious(0.02),benign(0.138),-1;ZNF484,missense_variant,p.S761A,ENST00000375495,NM_031486.2,c.2281T>G,MODERATE,,deleterious(0.02),benign(0.138),-1;ZNF484,missense_variant,p.S725A,ENST00000332591,NM_001007101.2,c.2173T>G,MODERATE,,deleterious(0.02),benign(0.138),-1;ANKRD19P,intron_variant,,ENST00000473204,,n.2103+8766A>C,MODIFIER,YES,,,1;RP11-526D8.11,upstream_gene_variant,,ENST00000617319,,,MODIFIER,YES,,,-1	C	ENST00000375495	Transcript	missense_variant	missense_variant	2430/2867	2281/2559	761/852	S/A	Tca/Gca		1		-1	ZNF484	HGNC	HGNC:23385	protein_coding		CCDS35066.1	ENSP00000364645	Q5JVG2		UPI00001B64FA	NM_031486.2	deleterious(0.02)	benign(0.138)	5/5		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE		SNV	1			1											PASS	TTGTGATTTCT	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	C	3	2	7	92846506	92846506	A	C	1	0	0	0	0	1	0	0	0	18509	333	12	5		5	ZNF484	9	92846506	Missense_Mutation	SNP	A	TCGA-V4-A9E9-01A-11D-A39W-08	15051934	92846506	45548211	6	87											
DNAJC1	64215	BI	GRCh38	chr10	21766266	21766266	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaagtatgaactcacctgggGagcaggtcactgaatccttc	11	10	2	2	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.1142C>G	p.Ser381Cys	p.S381C	ENST00000376980	10/12	136	67	69	150			DNAJC1,missense_variant,p.S381C,ENST00000376980,NM_022365.3,c.1142C>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.827),-1;DNAJC1,non_coding_transcript_exon_variant,,ENST00000483085,,n.327C>G,MODIFIER,,,,-1	C	ENST00000376980	Transcript	missense_variant	missense_variant	1433/2106	1142/1665	381/554	S/C	tCc/tGc		1		-1	DNAJC1	HGNC	HGNC:20090	protein_coding	YES	CCDS7136.1	ENSP00000366179	Q96KC8		UPI0000049FEF	NM_022365.3	deleterious(0.01)	possibly_damaging(0.827)	10/12		Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1											PASS	CTGGGGAGCAG	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	C	3	2	7	21766266	21766266	G	C	1	0	0	0	0	1	0	0	0	4442	1188	41	5		5	DNAJC1	10	21766266	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		21766266	112031156	7	88											
CDHR1	92211	BI	GRCh38	chr10	84196556	84196556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccctgagggagaccccatctCctaccacatcagctttgacc	7	17	2	3	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.203C>T	p.Ser68Phe	p.S68F	ENST00000623527	3/17	61	30	31	83			CDHR1,missense_variant,p.S68F,ENST00000623527,NM_033100.3,c.203C>T,MODERATE,YES,tolerated(0.53),possibly_damaging(0.477),1;CDHR1,missense_variant,p.S68F,ENST00000332904,NM_001171971.2,c.203C>T,MODERATE,,tolerated(0.05),possibly_damaging(0.465),1	T	ENST00000623527	Transcript	missense_variant	missense_variant	329/6781	203/2580	68/859	S/F	tCc/tTc		1		1	CDHR1	HGNC	HGNC:14550	protein_coding	YES	CCDS7372.1	ENSP00000485478	Q96JP9	F1T0L2	UPI0000161C2F	NM_033100.3	tolerated(0.53)	possibly_damaging(0.477)	3/17		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	CATCTCCTACC	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	T	3	4	7	84196556	84196556	C	T	1	0	0	0	0	1	0	0	0	2821	855	30	3		3	CDHR1	10	84196556	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08	62430290	84196556	49600866	8	89											
TMOD2	29767	BI	GRCh38	chr15	51773751	51773751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaagcctatagaaactcGtaaagaagaaaaagtgaccc	8	7	0	5	rs114844653	by1000G;byCluster;byFrequency	TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.323G>A	p.Arg108His	p.R108H	ENST00000249700	4/10	89	41	48	117			TMOD2,missense_variant,p.R108H,ENST00000249700,NM_014548.3,c.323G>A,MODERATE,YES,tolerated(0.6),benign(0.002),1;TMOD2,missense_variant,p.R64H,ENST00000539962,,c.191G>A,MODERATE,,tolerated(0.58),benign(0.002),1;TMOD2,missense_variant,p.R108H,ENST00000435126,NM_001142885.1,c.323G>A,MODERATE,,tolerated(0.61),benign(0.001),1;TMOD2,intron_variant,,ENST00000560576,,n.796+6681G>A,MODIFIER,,,,1	A	ENST00000249700	Transcript	missense_variant	missense_variant	544/9191	323/1056	108/351	R/H	cGt/cAt	rs114844653	1		1	TMOD2	HGNC	HGNC:11872	protein_coding	YES	CCDS10144.1	ENSP00000249700	Q9NZR1		UPI0000137080	NM_014548.3	tolerated(0.6)	benign(0.002)	4/10		Pfam_domain:PF03250								0	1e-04								MODERATE	1	SNV	1			1	0.0001235	0.0001238	0	0.0001728	0	0.0001512	0.0001651	0	6.072e-05		panel_of_normals	AACTCGTAAAG	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44	gdc_pon		True	Unknown	A	3	1	7	51773751	51773751	G	A	1	0	0	0	0	1	0	0	0	16710	1145	40	1		1	TMOD2	15	51773751	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		51773751	50217438	9	90											
GP2	2813	BI	GRCh38	chr16	20319697	20319697	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cattggaagttgatgttgagGatggtgtctctgatgatgaa	14	3	1	5	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.939C>A	p.=	p.I313I	ENST00000381362	7/12	175	87	88	215			GP2,synonymous_variant,p.I310I,ENST00000302555,NM_001502.2,c.930C>A,LOW,,,,-1;GP2,synonymous_variant,p.I313I,ENST00000381362,NM_001007240.1,c.939C>A,LOW,YES,,,-1;GP2,synonymous_variant,p.I166I,ENST00000381360,NM_001007241.1,c.498C>A,LOW,,,,-1;GP2,synonymous_variant,p.I163I,ENST00000341642,NM_001007242.1,c.489C>A,LOW,,,,-1;GP2,downstream_gene_variant,,ENST00000572347,,,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000575582,,,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000575449,,,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000572478,,,MODIFIER,,,,-1;GP2,non_coding_transcript_exon_variant,,ENST00000573897,,n.464C>A,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000575730,,,MODIFIER,,,,-1;GP2,downstream_gene_variant,,ENST00000574982,,,MODIFIER,,,,-1	T	ENST00000381362	Transcript	synonymous_variant	synonymous_variant	1016/2425	939/1614	313/537	I	atC/atA		1		-1	GP2	HGNC	HGNC:4441	protein_coding	YES	CCDS42128.1	ENSP00000370767	P55259		UPI000059D333	NM_001007240.1			7/12		Pfam_domain:PF00100;PROSITE_profiles:PS51034;SMART_domains:SM00241																	LOW	1	SNV	1			1											PASS	TTGAGGATGGT	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	T	2	4	7	20319697	20319697	G	T	1	0	0	0	0	0	0	0	1	6477	1164	41	5		5	GP2	16	20319697	Silent	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		20319697	70018648	10	91											
GSG2	83903	BI	GRCh38	chr17	3725407	3725407	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaacgctgtgagaagattgGggaaggggtgtttggcgaag	19	4	0	2	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.1472G>C	p.Gly491Ala	p.G491A	ENST00000325418	1/1	72	45	27	97			GSG2,missense_variant,p.G491A,ENST00000325418,NM_031965.2,c.1472G>C,MODERATE,YES,deleterious(0),probably_damaging(0.992),1;ITGAE,intron_variant,,ENST00000263087,NM_002208.4,c.3085-1663C>G,MODIFIER,YES,,,-1;ITGAE,downstream_gene_variant,,ENST00000574026,,,MODIFIER,,,,-1;CTD-3195I5.4,upstream_gene_variant,,ENST00000575043,,,MODIFIER,YES,,,1;CTD-3195I5.3,downstream_gene_variant,,ENST00000571741,,,MODIFIER,YES,,,1;ITGAE,intron_variant,,ENST00000571185,,n.578-663C>G,MODIFIER,,,,-1;ITGAE,upstream_gene_variant,,ENST00000570360,,,MODIFIER,,,,-1;ITGAE,upstream_gene_variant,,ENST00000572179,,,MODIFIER,,,,-1;ITGAE,intron_variant,,ENST00000570415,,n.479-1663C>G,MODIFIER,,,,-1;ITGAE,upstream_gene_variant,,ENST00000572433,,,MODIFIER,,,,-1	C	ENST00000325418	Transcript	missense_variant	missense_variant	1505/2797	1472/2397	491/798	G/A	gGg/gCg		1		1	GSG2	HGNC	HGNC:19682	protein_coding	YES	CCDS11036.1	ENSP00000325290	Q8TF76		UPI0000141654	NM_031965.2	deleterious(0)	probably_damaging(0.992)	1/1		Pfam_domain:PF00069;PROSITE_profiles:PS50011;SMART_domains:SM00220;Superfamily_domains:SSF56112																	MODERATE		SNV				1											PASS	GATTGGGGAAG	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	C	3	2	7	3725407	3725407	G	C	1	0	0	0	0	1	0	0	0	6706	1232	43	5		5	GSG2	17	3725407	Missense_Mutation	SNP	G	TCGA-V4-A9E9-01A-11D-A39W-08		3725407	79532034	11	92											
ADAMTS10	81794	BI	GRCh38	chr19	8592040	8592040	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccccatggagtccacggccCccaggctccgtccacaccct	9	21	0	0	novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.1651G>T	p.Gly551Trp	p.G551W	ENST00000597188	14/26	44	37	7	67			ADAMTS10,missense_variant,p.G551W,ENST00000270328,,c.1651G>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;ADAMTS10,missense_variant,p.G551W,ENST00000597188,NM_030957.3,c.1651G>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1;ADAMTS10,synonymous_variant,p.G41G,ENST00000595838,NM_001282352.1,c.123G>T,LOW,,,,-1;ADAMTS10,synonymous_variant,p.G41G,ENST00000593826,,c.123G>T,LOW,,,,-1;ADAMTS10,3_prime_UTR_variant,,ENST00000596851,,c.*786G>T,MODIFIER,,,,-1;ADAMTS10,3_prime_UTR_variant,,ENST00000593913,,c.*528G>T,MODIFIER,,,,-1;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000601163,,n.933G>T,MODIFIER,,,,-1;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000603221,,n.818G>T,MODIFIER,,,,-1;ADAMTS10,non_coding_transcript_exon_variant,,ENST00000596236,,n.135G>T,MODIFIER,,,,-1;ADAMTS10,downstream_gene_variant,,ENST00000601872,,,MODIFIER,,,,-1;ADAMTS10,upstream_gene_variant,,ENST00000596911,,,MODIFIER,,,,-1	A	ENST00000597188	Transcript	missense_variant	missense_variant	1922/3749	1651/3312	551/1103	G/W	Ggg/Tgg		1		-1	ADAMTS10	HGNC	HGNC:13201	protein_coding		CCDS12206.1	ENSP00000471851		A0A0A0MQW6	UPI00025D3090	NM_030957.3	deleterious(0)	probably_damaging(0.997)	14/26		Pfam_domain:PF00090;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE		SNV	5			1											PASS	CGGCCCCCAGG	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	A	3	1	7	8592040	8592040	C	A	1	0	0	0	0	1	0	0	0	300	623	22	5		5	ADAMTS10	19	8592040	Missense_Mutation	SNP	C	TCGA-V4-A9E9-01A-11D-A39W-08		8592040	50025576	12	93											
C20orf96	140680	BI	GRCh38	chr20	277379	277380	+	Frame_Shift_Del	DEL	AA	AA	-													agctgctctgcctgctgctcAagatctggggaggggttagg					novel		TCGA-V4-A9E9-01A-11D-A39W-08	TCGA-V4-A9E9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	af98e0da-fe6a-4d8c-bbff-f6810144d856	5eae119c-fc1e-4a6c-ba90-c2bfcbebd32a	c.569_570delTT	p.Leu190ArgfsTer12	p.L190Rfs*12	ENST00000360321	7/11	192	105	87	237			C20orf96,frameshift_variant,p.L189Rfs*12,ENST00000400269,NM_080571.1,c.566_567delTT,HIGH,,,,-1;C20orf96,frameshift_variant,p.L190Rfs*12,ENST00000360321,NM_153269.2,c.569_570delTT,HIGH,YES,,,-1;C20orf96,frameshift_variant,p.L155Rfs*12,ENST00000382369,,c.464_465delTT,HIGH,,,,-1	-	ENST00000360321	Transcript	frameshift_variant	frameshift_variant	708-709/1575	569-570/1092	190/363	L/X	cTT/c		1		-1	C20orf96	HGNC	HGNC:16227	protein_coding	YES	CCDS12994.1	ENSP00000353470	Q9NUD7		UPI00001285F1	NM_153269.2			7/11		Coiled-coils_(Ncoils):ncoils																	HIGH	1	deletion	1			1											PASS	CTGCTCAAGATCT	fdfa7bd7-00b9-40f3-a013-6f2cf1ebbfc5	edba656c-4749-4c75-befc-968a47da8656	9bb6e768-9441-45c9-ace2-d83f25ab8c28	418152bd-7d33-4f0a-b890-2356b30d6f44			True	Unknown	-	7	5	7	277379	277379	AA	-	1	0	1	0	1	0	0	0	0	2011	144	5	0		0	C20orf96	20	277379	Frame_Shift_Del	DEL	AA	TCGA-V4-A9E9-01A-11D-A39W-08		277379	64166788	13	94											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	69	41	28	71			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8		COSM110696	True	Unknown	A	3	1	8	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		197402760	44790769	1	95											
HDAC4	9759	BI	GRCh38	chr2	239134360	239134360	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaggtgctcaggtagggagtGaggtgggtgccggggaaaag	22	4	1	1	novel		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.1179C>T	p.=	p.L393L	ENST00000345617	11/27	36	33	3	12			HDAC4,synonymous_variant,p.L276L,ENST00000543185,,c.828C>T,LOW,,,,-1;HDAC4,synonymous_variant,p.L393L,ENST00000345617,NM_006037.3,c.1179C>T,LOW,YES,,,-1;HDAC4,synonymous_variant,p.L137L,ENST00000445704,,c.410C>T,LOW,,,,-1;HDAC4,non_coding_transcript_exon_variant,,ENST00000553145,,n.541C>T,MODIFIER,,,,-1;HDAC4,non_coding_transcript_exon_variant,,ENST00000493582,,n.1651C>T,MODIFIER,,,,-1;HDAC4,non_coding_transcript_exon_variant,,ENST00000463007,,n.1631C>T,MODIFIER,,,,-1;HDAC4,non_coding_transcript_exon_variant,,ENST00000535493,,n.1522C>T,MODIFIER,,,,-1;HDAC4,non_coding_transcript_exon_variant,,ENST00000461113,,n.842C>T,MODIFIER,,,,-1	A	ENST00000345617	Transcript	synonymous_variant	synonymous_variant	1971/8976	1179/3255	393/1084	L	ctC/ctT		1		-1	HDAC4	HGNC	HGNC:14063	protein_coding	YES	CCDS2529.1	ENSP00000264606	P56524		UPI000013D541	NM_006037.3			11/27		PIRSF_domain:PIRSF037911																	LOW	1	SNV	1			1											PASS	GGAGTGAGGTG	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			False	Unknown	A	2	1	8	239134360	239134360	G	A	1	0	0	0	0	0	0	0	1	6896	1277	45	3		3	HDAC4	2	239134360	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08	41731600	239134360	3059169	2	96											
ITPR3	3710	BI	GRCh38	chr6	33687044	33687044	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgctcctggctctgatggaGagccggcatgacagtgaaaa	13	10	1	4	novel		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.6015G>A	p.=	p.E2005E	ENST00000374316	45/59	100	35	65	88			ITPR3,synonymous_variant,p.E2005E,ENST00000374316,,c.6015G>A,LOW,YES,,,1;ITPR3,synonymous_variant,p.E2005E,ENST00000605930,NM_002224.3,c.6015G>A,LOW,,,,1	A	ENST00000374316	Transcript	synonymous_variant	synonymous_variant	7075/9870	6015/8016	2005/2671	E	gaG/gaA		1		1	ITPR3	HGNC	HGNC:6182	protein_coding	YES	CCDS4783.1	ENSP00000363435	Q14573		UPI000013CB74				45/59																			LOW	1	SNV	5			1											PASS	ATGGAGAGCCG	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	A	2	1	8	33687044	33687044	G	A	1	0	0	0	0	0	0	0	1	7828	933	33	3		3	ITPR3	6	33687044	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		33687044	137118935	3	97											
C6orf89	221477	BI	GRCh38	chr6	36914612	36914612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgccagtaccctgaggCgacagaaggcttctctgaag	12	10	1	3	rs753250574	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.614C>T	p.Ala205Val	p.A205V	ENST00000373685	6/9	225	87	138	158			C6orf89,missense_variant,p.A205V,ENST00000480824,NM_001286635.1,c.614C>T,MODERATE,,tolerated(0.59),benign(0.002),1;C6orf89,missense_variant,p.A99V,ENST00000359359,NM_001286637.1&NM_001286636.1,c.296C>T,MODERATE,,tolerated(0.55),benign(0.002),1;C6orf89,missense_variant,p.A205V,ENST00000373685,,c.614C>T,MODERATE,,tolerated(0.59),benign(0.002),1;C6orf89,missense_variant,p.A212V,ENST00000355190,NM_152734.3,c.635C>T,MODERATE,YES,tolerated(0.59),benign(0.002),1	T	ENST00000373685	Transcript	missense_variant	missense_variant	889/1400	614/1044	205/347	A/V	gCg/gTg	rs753250574	1		1	C6orf89	HGNC	HGNC:21114	protein_coding		CCDS69100.1	ENSP00000362789	Q6UWU4	A0A024RCY0	UPI0000048F18		tolerated(0.59)	benign(0.002)	6/9																			MODERATE		SNV	5			1	6.589e-05	6.589e-05	0	0	0.0001156	0	8.99e-05	0	6.056e-05		PASS	TGAGGCGACAG	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8		COSM4667953	True	Unknown	T	3	4	8	36914612	36914612	C	T	1	0	0	0	0	1	0	0	0	2133	768	27	2		2	C6orf89	6	36914612	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08	3227568	36914612	133891367	4	98											
ADAMTSL1	92949	BI	GRCh38	chr9	18906786	18906786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctacctgtggcaactacGgcttccagtcccggcgtgtg	12	14	0	0	rs750373794	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.5056G>A	p.Gly1686Ser	p.G1686S	ENST00000380548	28/29	34	18	16	46			ADAMTSL1,missense_variant,p.G1686S,ENST00000380548,NM_001040272.5,c.5056G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;ADAMTSL1,missense_variant,p.G387S,ENST00000380545,,c.1159G>A,MODERATE,,deleterious(0.01),probably_damaging(1),1;ADAMTSL1,missense_variant,p.R257Q,ENST00000388710,,c.770G>A,MODERATE,,tolerated_low_confidence(0.34),benign(0.001),1;ADAMTSL1,3_prime_UTR_variant,,ENST00000542621,,c.*174G>A,MODIFIER,,,,1;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000380559,,n.3588G>A,MODIFIER,,,,1;ADAMTSL1,non_coding_transcript_exon_variant,,ENST00000489062,,n.496G>A,MODIFIER,,,,1	A	ENST00000380548	Transcript	missense_variant	missense_variant	5395/8030	5056/5289	1686/1762	G/S	Ggc/Agc	rs750373794	1		1	ADAMTSL1	HGNC	HGNC:14632	protein_coding	YES	CCDS47954.1	ENSP00000369921	Q8N6G6		UPI000004FD83	NM_001040272.5	deleterious(0)	probably_damaging(1)	28/29		PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1	3.303e-05	3.339e-05	0.0001036	0	0	0	4.539e-05	0	0		PASS	ACTACGGCTTC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	A	3	1	8	18906786	18906786	G	A	1	0	0	0	0	1	0	0	0	318	1116	39	2		2	ADAMTSL1	9	18906786	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		18906786	119487931	5	99											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	89	47	42	98			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8		COSM28757	True	Unknown	A	3	1	8	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EA-01A-11D-A39W-08	58887786	77794572	60600145	6	100											
DSCAML1	57453	BI	GRCh38	chr11	117437242	117437242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtcagaaacacctcccCggagctgttggcccggaggc	12	15	1	1	rs527533395	by1000G;byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.4780G>A	p.Gly1594Arg	p.G1594R	ENST00000321322	26/33	44	37	7	93			DSCAML1,missense_variant,p.G1594R,ENST00000321322,NM_020693.2,c.4780G>A,MODERATE,YES,tolerated(0.46),benign(0.065),-1;DSCAML1,missense_variant,p.G1324R,ENST00000527706,,c.3970G>A,MODERATE,,tolerated(0.43),benign(0.065),-1	T	ENST00000321322	Transcript	missense_variant	missense_variant	4782/6899	4780/6342	1594/2113	G/R	Ggg/Agg	rs527533395	1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.2	tolerated(0.46)	benign(0.065)	26/33		PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1	5.765e-05	5.766e-05	9.612e-05	0.0001728	0	0	2.997e-05	0	0.0001211		panel_of_normals	CTCCCCGGAGC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8	gdc_pon		True	Unknown	T	3	4	8	117437242	117437242	C	T	1	0	0	0	0	1	0	0	0	4590	652	23	2		2	DSCAML1	11	117437242	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		117437242	17649380	7	101											
ACVRL1	94	BI	GRCh38	chr12	51915385	51915385	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcggcatgcggcctggcGcacctgcacgtggagatctt	14	14	1	1	rs779758131	byFrequency	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.933G>A	p.=	p.A311A	ENST00000388922	7/10	37	22	15	43			ACVRL1,synonymous_variant,p.A325A,ENST00000550683,,c.975G>A,LOW,,,,1;ACVRL1,synonymous_variant,p.A311A,ENST00000388922,NM_001077401.1&NM_000020.2,c.933G>A,LOW,YES,,,1;ACVRL1,synonymous_variant,p.A137A,ENST00000419526,,c.411G>A,LOW,,,,1;ACVRL1,upstream_gene_variant,,ENST00000552678,,,MODIFIER,,,,1;ACVRL1,downstream_gene_variant,,ENST00000547400,,,MODIFIER,,,,1;ACVRL1,downstream_gene_variant,,ENST00000551576,,,MODIFIER,,,,1;ACVRL1,upstream_gene_variant,,ENST00000547632,,,MODIFIER,,,,1	A	ENST00000388922	Transcript	synonymous_variant	synonymous_variant	1216/1971	933/1512	311/503	A	gcG/gcA	rs779758131	1		1	ACVRL1	HGNC	HGNC:175	protein_coding	YES	CCDS31804.1	ENSP00000373574	P37023		UPI000000D9F4	NM_001077401.1;NM_000020.2			7/10		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	LOW	1	SNV	1			1	4.942e-05	4.987e-05	0	0	0	0	9.099e-05	0	0		PASS	CTGGCGCACCT	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	A	2	1	8	51915385	51915385	G	A	1	0	0	0	0	0	0	0	1	269	1074	38	2		2	ACVRL1	12	51915385	Silent	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08		51915385	81359924	8	102											
TBX6	6911	BI	GRCh38	chr16	30090818	30090818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactccttccatagctccCggttctccaggctcaggctg	9	15	2	1	rs767360040		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.293G>A	p.Arg98Gln	p.R98Q	ENST00000279386	2/8	45	19	26	42			TBX6,missense_variant,p.R98Q,ENST00000553607,,c.293G>A,MODERATE,,tolerated(0.29),benign(0.003),-1;TBX6,missense_variant,p.R98Q,ENST00000395224,NM_004608.3,c.293G>A,MODERATE,YES,tolerated(0.41),benign(0.001),-1;TBX6,missense_variant,p.R98Q,ENST00000627355,,c.293G>A,MODERATE,,tolerated(0.45),benign(0.001),-1;TBX6,missense_variant,p.R98Q,ENST00000279386,,c.293G>A,MODERATE,,tolerated(0.41),benign(0.001),-1;YPEL3,downstream_gene_variant,,ENST00000562641,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000398841,NM_031477.4,,MODIFIER,YES,,,-1;YPEL3,downstream_gene_variant,,ENST00000398838,NM_001145524.1,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000566595,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000566134,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000563788,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000565110,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000565479,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000568674,,,MODIFIER,,,,-1;TBX6,missense_variant,p.R98Q,ENST00000567664,,c.293G>A,MODERATE,,tolerated(0.29),benign(0.003),-1;YPEL3,downstream_gene_variant,,ENST00000568681,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000570099,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000566401,,,MODIFIER,,,,-1	T	ENST00000279386	Transcript	missense_variant	missense_variant	349/1796	293/1311	98/436	R/Q	cGg/cAg	rs767360040	1		-1	TBX6	HGNC	HGNC:11605	protein_coding		CCDS10670.1	ENSP00000279386	O95947		UPI000013DBC7		tolerated(0.41)	benign(0.001)	2/8		Pfam_domain:PF00907;PROSITE_profiles:PS50252;SMART_domains:SM00425;Superfamily_domains:SSF49417																	MODERATE		SNV	1			1	8.237e-06	8.588e-06	0	0	0	0	1.537e-05	0	0		PASS	GCTCCCGGTTC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	T	3	4	8	30090818	30090818	C	T	1	0	0	0	0	1	0	0	0	16066	652	23	2		2	TBX6	16	30090818	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		30090818	60247527	9	103											
CRISPLD2	83716	BI	GRCh38	chr16	84906620	84906620	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgggatggaaaggccttccGgatctttgctgtcaggcagt	14	9	2	0	rs147087796	by1000G;byCluster	TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.1472G>A	p.Arg491Gln	p.R491Q	ENST00000262424	15/15	82	68	14	97			CRISPLD2,missense_variant,p.R491Q,ENST00000262424,NM_031476.3,c.1472G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.847),1;CRISPLD2,missense_variant,p.R490Q,ENST00000567845,,c.1469G>A,MODERATE,,deleterious(0.02),probably_damaging(0.946),1;CRISPLD2,intron_variant,,ENST00000566165,,c.121-13020G>A,MODIFIER,,,,1	A	ENST00000262424	Transcript	missense_variant	missense_variant	1696/4586	1472/1494	491/497	R/Q	cGg/cAg	rs147087796	1		1	CRISPLD2	HGNC	HGNC:25248	protein_coding	YES	CCDS10949.1	ENSP00000262424	Q9H0B8		UPI00000411B0	NM_031476.3	deleterious(0.02)	possibly_damaging(0.847)	15/15		Superfamily_domains:SSF69848		0	0.0014		0	0	0	2e-04	0								MODERATE	1	SNV	1			1	3.295e-05	3.299e-05	0	0.0001728	0.0001156	0	1.499e-05	0	0		PASS	CTTCCGGATCT	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	A	3	1	8	84906620	84906620	G	A	1	0	0	0	0	1	0	0	0	3684	1116	39	2		2	CRISPLD2	16	84906620	Missense_Mutation	SNP	G	TCGA-V4-A9EA-01A-11D-A39W-08	54815802	84906620	5431725	10	104											
ZSWIM1	90204	BI	GRCh38	chr20	45882692	45882692	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccatggccctgacaAtgctgaatgggctcctgatt	9	13	1	3	novel		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.100A>G	p.Met34Val	p.M34V	ENST00000372520	2/3	53	48	5	61			ZSWIM1,missense_variant,p.M34V,ENST00000372523,NM_080603.4,c.100A>G,MODERATE,YES,tolerated(0.5),benign(0.001),1;ZSWIM1,missense_variant,p.M34V,ENST00000372520,,c.100A>G,MODERATE,,tolerated(0.5),benign(0.001),1;ZSWIM3,downstream_gene_variant,,ENST00000255152,NM_080752.3,,MODIFIER,YES,,,1;SPATA25,downstream_gene_variant,,ENST00000372519,NM_080608.3,,MODIFIER,YES,,,-1	G	ENST00000372520	Transcript	missense_variant	missense_variant	181/2168	100/1458	34/485	M/V	Atg/Gtg		1		1	ZSWIM1	HGNC	HGNC:16155	protein_coding		CCDS13382.2	ENSP00000361598	Q9BR11		UPI0000470896		tolerated(0.5)	benign(0.001)	2/3																			MODERATE		SNV	1			1											PASS	TGACAATGCTG	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	G	3	3	8	45882692	45882692	A	G	1	0	0	0	0	1	0	0	0	18841	101	4	4		4	ZSWIM1	20	45882692	Missense_Mutation	SNP	A	TCGA-V4-A9EA-01A-11D-A39W-08		45882692	18561475	11	105											
COL6A1	1291	BI	GRCh38	chr21	46002337	46002337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catcgccctggtcatcactgAcgggcgctcagacactcaga	10	15	4	3	novel		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.2186A>T	p.Asp729Val	p.D729V	ENST00000361866	32/35	4	2	2	11			COL6A1,missense_variant,p.D729V,ENST00000361866,NM_001848.2,c.2186A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;COL6A1,missense_variant,p.D727V,ENST00000612273,,c.2180A>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;COL6A1,non_coding_transcript_exon_variant,,ENST00000498614,,n.420A>T,MODIFIER,,,,1;COL6A1,non_coding_transcript_exon_variant,,ENST00000463060,,n.585A>T,MODIFIER,,,,1;COL6A1,upstream_gene_variant,,ENST00000486023,,,MODIFIER,,,,1;COL6A1,downstream_gene_variant,,ENST00000466285,,,MODIFIER,,,,1	T	ENST00000361866	Transcript	missense_variant	missense_variant	2300/4238	2186/3087	729/1028	D/V	gAc/gTc		1		1	COL6A1	HGNC	HGNC:2211	protein_coding	YES	CCDS13727.1	ENSP00000355180	P12109		UPI000019B179	NM_001848.2	deleterious(0)	probably_damaging(0.999)	32/35		Pfam_domain:PF00092;Prints_domain:PR00453;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1											PASS	CACTGACGGGC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			False	Unknown	T	3	4	8	46002337	46002337	A	T	1	0	0	0	0	1	0	0	0	3488	275	10	5		5	COL6A1	21	46002337	Missense_Mutation	SNP	A	TCGA-V4-A9EA-01A-11D-A39W-08		46002337	707646	12	106											
MORC2	22880	BI	GRCh38	chr22	30936586	30936586	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttctcttcctgcgtcttCatgtcctttctgaatgttcc	6	13	4	1	novel		TCGA-V4-A9EA-01A-11D-A39W-08	TCGA-V4-A9EA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	659c2982-58c3-495b-b6b1-4d0093e192ca	bde25877-be56-49ff-955c-cd602a35f6ef	c.1662G>A	p.Met554Ile	p.M554I	ENST00000397641	17/26	132	68	64	130			MORC2,missense_variant,p.M554I,ENST00000397641,,c.1662G>A,MODERATE,,tolerated(0.22),benign(0.001),-1;MORC2,missense_variant,p.M492I,ENST00000215862,NM_014941.1,c.1476G>A,MODERATE,YES,tolerated(0.45),benign(0.001),-1;MORC2,upstream_gene_variant,,ENST00000445980,,,MODIFIER,,,,-1;MORC2-AS1,downstream_gene_variant,,ENST00000441558,,,MODIFIER,,,,1;MORC2,non_coding_transcript_exon_variant,,ENST00000469915,,n.587G>A,MODIFIER,,,,-1	T	ENST00000397641	Transcript	missense_variant	missense_variant	2071/5181	1662/3099	554/1032	M/I	atG/atA		1		-1	MORC2	HGNC	HGNC:23573	protein_coding			ENSP00000380763	Q9Y6X9		UPI000041AB7E		tolerated(0.22)	benign(0.001)	17/26		Coiled-coils_(Ncoils):ncoils																	MODERATE		SNV	5			1											PASS	GTCTTCATGTC	5feaf2b5-9a75-423a-ae4d-77bfd65be574	c5859949-dee8-443a-a1a1-af1bf98671f8	bdaecb3c-442b-4262-be7b-06763b25f1df	a9fe64a9-6d22-4e9f-96f3-f16af7d298f8			True	Unknown	T	3	4	8	30936586	30936586	C	T	1	0	0	0	0	1	0	0	0	9666	826	29	3		3	MORC2	22	30936586	Missense_Mutation	SNP	C	TCGA-V4-A9EA-01A-11D-A39W-08		30936586	19881882	13	107											
TNFRSF8	943	BI	GRCh38	chr1	12104387	12104387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccttagacgacctcGtggagaagacgccgtgtgca	13	11	0	3	rs141205943	byCluster	TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.277G>A	p.Val93Met	p.V93M	ENST00000263932	4/15	43	24	19	74			TNFRSF8,missense_variant,p.V93M,ENST00000263932,NM_001243.3,c.277G>A,MODERATE,YES,deleterious(0),probably_damaging(0.963),1;TNFRSF8,5_prime_UTR_variant,,ENST00000417814,NM_001281430.1,c.-57G>A,MODIFIER,,,,1;TNFRSF8,3_prime_UTR_variant,,ENST00000514649,,c.*21G>A,MODIFIER,,,,1	A	ENST00000263932	Transcript	missense_variant	missense_variant	499/3686	277/1788	93/595	V/M	Gtg/Atg	rs141205943	1		1	TNFRSF8	HGNC	HGNC:11923	protein_coding	YES	CCDS144.1	ENSP00000263932	P28908		UPI0000000971	NM_001243.3	deleterious(0)	probably_damaging(0.963)	4/15		Pfam_domain:PF00020;PROSITE_profiles:PS50311;PROSITE_profiles:PS50050;SMART_domains:SM00208;Superfamily_domains:SSF57586								2e-04	0								MODERATE	1	SNV	1			1	3.295e-05	3.295e-05	0.0001922	0	0	0	1.498e-05	0	6.056e-05		PASS	ACCTCGTGGAG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381		COSM83873	True	Unknown	A	3	1	9	12104387	12104387	G	A	1	0	0	0	0	1	0	0	0	16773	1145	40	1		1	TNFRSF8	1	12104387	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		12104387	236852035	1	108											
RPS6KC1	26750	BI	GRCh38	chr1	213241901	213241901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggagtggttgagtcagcaGtaactgcaaacaacacagaa	11	7	1	2	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.2425G>T	p.Val809Leu	p.V809L	ENST00000366960	11/15	79	40	39	117			RPS6KC1,missense_variant,p.V809L,ENST00000366960,NM_012424.4,c.2425G>T,MODERATE,YES,tolerated(1),benign(0.001),1;RPS6KC1,missense_variant,p.V797L,ENST00000366959,NM_001136138.2,c.2389G>T,MODERATE,,tolerated(1),benign(0.001),1;RPS6KC1,missense_variant,p.V597L,ENST00000543470,NM_001287219.1,c.1789G>T,MODERATE,,tolerated(1),benign(0.002),1;RPS6KC1,missense_variant,p.V597L,ENST00000614059,NM_001287218.1,c.1789G>T,MODERATE,,tolerated(1),benign(0.002),1;RPS6KC1,missense_variant,p.V628L,ENST00000543354,NM_001287221.1,c.1882G>T,MODERATE,,tolerated(1),benign(0.001),1;RPS6KC1,missense_variant,p.V344L,ENST00000615329,NM_001287220.1,c.1030G>T,MODERATE,,tolerated(1),benign(0.001),1;RPS6KC1,non_coding_transcript_exon_variant,,ENST00000490299,,n.2239G>T,MODIFIER,,,,1;RPS6KC1,upstream_gene_variant,,ENST00000491616,,,MODIFIER,,,,1	T	ENST00000366960	Transcript	missense_variant	missense_variant	2575/5490	2425/3201	809/1066	V/L	Gta/Tta		1		1	RPS6KC1	HGNC	HGNC:10439	protein_coding	YES	CCDS1513.1	ENSP00000355927	Q96S38		UPI0000071B8C	NM_012424.4	tolerated(1)	benign(0.001)	11/15		PROSITE_profiles:PS50011																	MODERATE	1	SNV	1			1											PASS	CAGCAGTAACT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	3	4	9	213241901	213241901	G	T	1	0	0	0	0	1	0	0	0	13913	1029	36	5		5	RPS6KC1	1	213241901	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	201137514	213241901	35714521	2	109											
RYR2	6262	BI	GRCh38	chr1	237627961	237627961	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccctgccaaagacctacacGataaatggtgtgtccgtgga	11	11	0	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.6321G>T	p.=	p.T2107T	ENST00000366574	41/105	30	17	13	43			RYR2,synonymous_variant,p.T2107T,ENST00000366574,NM_001035.2,c.6321G>T,LOW,YES,,,1;RYR2,synonymous_variant,p.T2091T,ENST00000360064,,c.6273G>T,LOW,,,,1	T	ENST00000366574	Transcript	synonymous_variant	synonymous_variant	6638/16562	6321/14904	2107/4967	T	acG/acT		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			41/105																			LOW	1	SNV	1			1											PASS	TACACGATAAA	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	2	4	9	237627961	237627961	G	T	1	0	0	0	0	0	0	0	1	14029	1045	37	5		5	RYR2	1	237627961	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	24386060	237627961	11328461	3	110											
FANCL	55120	BI	GRCh38	chr2	58161527	58161527	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttattttttacctcatAtaagcatatttgatggaaag	5	4	1	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.1015T>C	p.Tyr339His	p.Y339H	ENST00000233741	12/14	43	33	10	78			FANCL,missense_variant,p.Y344H,ENST00000402135,NM_001114636.1,c.1030T>C,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1;FANCL,missense_variant,p.Y339H,ENST00000233741,NM_018062.3,c.1015T>C,MODERATE,,deleterious(0),probably_damaging(0.994),-1;FANCL,missense_variant,p.Y311H,ENST00000403295,,c.931T>C,MODERATE,,deleterious(0),probably_damaging(0.99),-1;FANCL,missense_variant,p.Y280H,ENST00000449070,,c.838T>C,MODERATE,,deleterious(0),probably_damaging(0.992),-1;FANCL,missense_variant,p.Y222H,ENST00000403676,,c.664T>C,MODERATE,,deleterious(0),probably_damaging(0.996),-1;VRK2,downstream_gene_variant,,ENST00000435505,NM_001288837.1,,MODIFIER,YES,,,1;VRK2,downstream_gene_variant,,ENST00000417641,NM_001130483.2&NM_001288838.1,,MODIFIER,,,,1;VRK2,downstream_gene_variant,,ENST00000412104,NM_001288836.1&NM_001288839.1,,MODIFIER,,,,1;VRK2,downstream_gene_variant,,ENST00000340157,NM_001130481.2&NM_001130480.2&NM_006296.6,,MODIFIER,,,,1;VRK2,downstream_gene_variant,,ENST00000440705,NM_001130482.2,,MODIFIER,,,,1;FANCL,downstream_gene_variant,,ENST00000427708,,,MODIFIER,,,,-1;FANCL,downstream_gene_variant,,ENST00000417361,,,MODIFIER,,,,-1;FANCL,downstream_gene_variant,,ENST00000446381,,,MODIFIER,,,,-1;VRK2,downstream_gene_variant,,ENST00000432057,,,MODIFIER,,,,1;FANCL,downstream_gene_variant,,ENST00000470506,,,MODIFIER,,,,-1	G	ENST00000233741	Transcript	missense_variant	missense_variant	1052/1683	1015/1128	339/375	Y/H	Tat/Cat		1		-1	FANCL	HGNC	HGNC:20748	protein_coding		CCDS1860.1	ENSP00000233741	Q9NW38		UPI000013C98C	NM_018062.3	deleterious(0)	probably_damaging(0.994)	12/14		Pfam_domain:PF11793;Superfamily_domains:SSF57850																	MODERATE		SNV	1			1											PASS	CTCATATAAGC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	G	3	3	9	58161527	58161527	A	G	1	0	0	0	0	1	0	0	0	5530	463	16	4		4	FANCL	2	58161527	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08		58161527	184032002	4	111											
SF3B1	23451	BI	GRCh38	chr2	197402646	197402646	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacaatcttaataccagTgtgtctcgcttgccaggact	8	10	2	0	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.1987A>C	p.Thr663Pro	p.T663P	ENST00000335508	14/25	47	27	20	54			SF3B1,missense_variant,p.T663P,ENST00000335508,NM_012433.2,c.1987A>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	G	ENST00000335508	Transcript	missense_variant	missense_variant	2079/6526	1987/3915	663/1304	T/P	Act/Cct		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	ACCAGTGTGTC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	G	3	3	9	197402646	197402646	T	G	1	0	0	0	0	1	0	0	0	14428	1696	59	5		5	SF3B1	2	197402646	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	139241119	197402646	44790883	5	112											
RBM44	375316	BI	GRCh38	chr2	237817256	237817259	+	Intron	DEL	TCTA	TCTA	-													ctttcttgaataaaacatatTctataccttattcagagtca					novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.-98-2918_-98-2915delCTAT			ENST00000611254		16	13	3	25			RBM44,frameshift_variant,p.S114Yfs*8,ENST00000316997,NM_001080504.2,c.341_344delCTAT,HIGH,YES,,,1;RBM44,frameshift_variant,p.S114Yfs*8,ENST00000409864,,c.341_344delCTAT,HIGH,,,,1;RBM44,intron_variant,,ENST00000611254,,c.-98-2918_-98-2915delCTAT,MODIFIER,,,,1;RBM44,intron_variant,,ENST00000444524,,n.202-2918_202-2915delCTAT,MODIFIER,,,,1;LRRFIP1,downstream_gene_variant,,ENST00000489603,,,MODIFIER,,,,1;RBM44,non_coding_transcript_exon_variant,,ENST00000480583,,n.829_832delCTAT,MODIFIER,,,,1	-	ENST00000611254	Transcript	intron_variant	intron_variant	-/1427	-/1257	-/418				1		1	RBM44	HGNC	HGNC:24756	protein_coding			ENSP00000483448	Q6ZP01		UPI0000E5BE75					1/12																		MODIFIER		deletion	2	1		1											PASS	ACATATTCTATACCT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			False	Unknown	-	6	5	9	237817256	237817256	TCTA	-	0	1	1	0	1	0	0	0	0	13304	1783	62	0		0	RBM44	2	237817256	Intron	DEL	TCTA	TCGA-V4-A9EC-01A-11D-A39W-08	40414610	237817256	4376273	6	113											
SLC27A6	28965	BI	GRCh38	chr5	128966506	128966506	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcgttcacgtgtggttCggcctcgccaagctgggctg	14	12	1	0	rs758990702		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.369C>T	p.=	p.F123F	ENST00000262462	1/10	25	15	10	23			SLC27A6,synonymous_variant,p.F123F,ENST00000262462,,c.369C>T,LOW,YES,,,1;SLC27A6,synonymous_variant,p.F123F,ENST00000395266,NM_001017372.1&NM_014031.3,c.369C>T,LOW,,,,1;SLC27A6,synonymous_variant,p.F123F,ENST00000506176,,c.369C>T,LOW,,,,1;SLC27A6,intron_variant,,ENST00000508645,,c.-62-18627C>T,MODIFIER,,,,1	T	ENST00000262462	Transcript	synonymous_variant	synonymous_variant	1379/3219	369/1860	123/619	F	ttC/ttT	rs758990702	1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83				1/10		Pfam_domain:PF00501;Superfamily_domains:SSF56801																	LOW	1	SNV	1			1	8.237e-06	8.67e-06	0	8.718e-05	0	0	0	0	0		PASS	TGGTTCGGCCT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	2	4	9	128966506	128966506	C	T	1	0	0	0	0	0	0	0	1	14800	883	31	2		2	SLC27A6	5	128966506	Silent	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		128966506	52571753	7	114											
SLC39A7	7922	BI	GRCh38	chr6	33201430	33201431	+	Frame_Shift_Ins	INS	-	-	T													catggccacagccatgcccaINStggccatggccacactcacg					novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.186dupT	p.Gly63TrpfsTer24	p.G63Wfs*24	ENST00000374675	2/8	57	29	28	50			SLC39A7,frameshift_variant,p.G63Wfs*24,ENST00000374677,NM_006979.2,c.186dupT,HIGH,YES,,,1;SLC39A7,frameshift_variant,p.G63Wfs*24,ENST00000617885,,c.186dupT,HIGH,,,,1;SLC39A7,frameshift_variant,p.G63Wfs*24,ENST00000374675,NM_001077516.1&NM_001288777.1,c.186dupT,HIGH,,,,1;SLC39A7,intron_variant,,ENST00000444757,,c.142-314dupT,MODIFIER,,,,1;RXRB,upstream_gene_variant,,ENST00000374680,NM_021976.4,,MODIFIER,,,,-1;RXRB,upstream_gene_variant,,ENST00000374685,NM_001270401.1,,MODIFIER,YES,,,-1;HSD17B8,upstream_gene_variant,,ENST00000374662,NM_014234.4,,MODIFIER,YES,,,1;RNY4P10,downstream_gene_variant,,ENST00000365571,,,MODIFIER,YES,,,1;SLC39A7,upstream_gene_variant,,ENST00000463972,,,MODIFIER,,,,1;HSD17B8,upstream_gene_variant,,ENST00000469186,,,MODIFIER,,,,1;RXRB,upstream_gene_variant,,ENST00000483281,,,MODIFIER,,,,-1;RXRB,upstream_gene_variant,,ENST00000481441,,,MODIFIER,,,,-1	T	ENST00000374675	Transcript	frameshift_variant	frameshift_variant	302-303/2153	185-186/1410	62/469	H/HX	cat/caTt		1		1	SLC39A7	HGNC	HGNC:4927	protein_coding		CCDS43453.1	ENSP00000363807	Q92504	A0A024RCX7	UPI0000046C3F	NM_001077516.1;NM_001288777.1			2/8		Low_complexity_(Seg):Seg;Prints_domain:PR00334;PROSITE_profiles:PS50316																	HIGH		insertion	1	1		1											PASS	TGCCCATGGCC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	7	5	9	33201430	33201430	-	T	1	0	1	1	0	0	0	0	0	14901	217	8	0		0	SLC39A7	6	33201430	Frame_Shift_Ins	INS	-	TCGA-V4-A9EC-01A-11D-A39W-08		33201430	137604549	8	115											
KLHL31	401265	BI	GRCh38	chr6	53654338	53654338	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggactcggcagccacctCggattcttgttcgcctagat	11	13	1	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.935G>A	p.Arg312Gln	p.R312Q	ENST00000370905	2/3	124	66	58	132			KLHL31,missense_variant,p.R312Q,ENST00000370905,NM_001003760.4,c.935G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;KLHL31,missense_variant,p.R312Q,ENST00000407079,,c.935G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1	T	ENST00000370905	Transcript	missense_variant	missense_variant	1076/5743	935/1905	312/634	R/Q	cGa/cAa		1		-1	KLHL31	HGNC	HGNC:21353	protein_coding	YES	CCDS34478.1	ENSP00000359942	Q9H511			NM_001003760.4	deleterious(0)	probably_damaging(0.997)	2/3		PIRSF_domain:PIRSF037037																	MODERATE	1	SNV	1			1											PASS	CACCTCGGATT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	3	4	9	53654338	53654338	C	T	1	0	0	0	0	1	0	0	0	8250	884	31	2		2	KLHL31	6	53654338	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	20452908	53654338	117151641	9	116											
TYRP1	7306	BI	GRCh38	chr9	12695537	12695541	+	Frame_Shift_Del	DEL	AAGTA	AAGTA	-													aggagaaatcttctggacttAagtaaagaagaaaagaacca					rs769074792		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.411_415delTAAAG	p.Ser137ArgfsTer42	p.S137Rfs*42	ENST00000388918	3/8	90	75	15	78			TYRP1,frameshift_variant,p.S137Rfs*42,ENST00000388918,NM_000550.2,c.411_415delTAAAG,HIGH,YES,,,1;TYRP1,upstream_gene_variant,,ENST00000381136,,,MODIFIER,,,,1;TYRP1,downstream_gene_variant,,ENST00000473763,,,MODIFIER,,,,1;LURAP1L-AS1,downstream_gene_variant,,ENST00000417638,,,MODIFIER,YES,,,-1;TYRP1,upstream_gene_variant,,ENST00000381142,,,MODIFIER,,,,1;TYRP1,downstream_gene_variant,,ENST00000459790,,,MODIFIER,,,,1	-	ENST00000388918	Transcript	frameshift_variant	frameshift_variant	537-541/2851	408-412/1614	136-138/537	LSK/LX	ttAAGTAaa/ttaa	rs769074792	1		1	TYRP1	HGNC	HGNC:12450	protein_coding	YES	CCDS34990.1	ENSP00000373570	P17643		UPI0000039DCA	NM_000550.2			3/8		Superfamily_domains:SSF48056																	HIGH	1	deletion	1	3		1	8.236e-06	8.29e-06	0	0	0	0.0001516	0	0	0		PASS	GGACTTAAGTAAAGAA	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	-	7	5	9	12695537	12695537	AAGTA	-	1	0	1	0	1	0	0	0	0	17331	359	13	0		0	TYRP1	9	12695537	Frame_Shift_Del	DEL	AAGTA	TCGA-V4-A9EC-01A-11D-A39W-08		12695537	125699180	10	117											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	108	54	54	87			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381		COSM28758	True	Unknown	G	3	3	9	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	65099035	77794572	60600145	11	118											
SETX	23064	BI	GRCh38	chr9	132329807	132329807	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgttacatggaggtgctttGaattttatgtttctaataat	9	3	1	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.1791C>G	p.Phe597Leu	p.F597L	ENST00000224140	10/26	24	17	7	64			SETX,missense_variant,p.F597L,ENST00000224140,NM_015046.5,c.1791C>G,MODERATE,YES,tolerated(0.68),benign(0.001),-1	C	ENST00000224140	Transcript	missense_variant	missense_variant	1974/11100	1791/8034	597/2677	F/L	ttC/ttG		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	tolerated(0.68)	benign(0.001)	10/26																			MODERATE	1	SNV	1			1											PASS	GCTTTGAATTT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	C	3	2	9	132329807	132329807	G	C	1	0	0	0	0	1	0	0	0	14420	1281	45	5		5	SETX	9	132329807	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08	54535235	132329807	6064910	12	119											
PNPLA7	375775	BI	GRCh38	chr9	137480393	137480393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgcagcgctgggtccagggTgtgagcgtgccatctgcctg	16	12	1	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.2424A>G	p.=	p.T808T	ENST00000277531	22/34	29	13	16	21			PNPLA7,synonymous_variant,p.T833T,ENST00000406427,NM_001098537.1,c.2499A>G,LOW,YES,,,-1;PNPLA7,synonymous_variant,p.T808T,ENST00000277531,NM_152286.3,c.2424A>G,LOW,,,,-1;PNPLA7,non_coding_transcript_exon_variant,,ENST00000469998,,n.335A>G,MODIFIER,,,,-1;PNPLA7,upstream_gene_variant,,ENST00000492278,,,MODIFIER,,,,-1	C	ENST00000277531	Transcript	synonymous_variant	synonymous_variant	2611/4581	2424/3954	808/1317	T	acA/acG		1		-1	PNPLA7	HGNC	HGNC:24768	protein_coding		CCDS7045.1	ENSP00000277531	Q6ZV29		UPI000443805E	NM_152286.3			22/34																			LOW		SNV	2			1											PASS	CAGGGTGTGAG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	C	2	2	9	137480393	137480393	T	C	1	0	0	0	0	0	0	0	1	12278	1683	59	4		4	PNPLA7	9	137480393	Silent	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08	5150586	137480393	914324	13	120											
HK1	3098	BI	GRCh38	chr10	69384351	69384351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaatggtgacttcttggCcctggatcttggaggaacca	13	8	2	2	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.1589C>T	p.Ala530Val	p.A530V	ENST00000359426	11/18	126	78	48	148			HK1,missense_variant,p.A518V,ENST00000360289,NM_033500.2,c.1553C>T,MODERATE,,deleterious(0.03),probably_damaging(0.999),1;HK1,missense_variant,p.A534V,ENST00000448642,NM_033498.2&NM_033497.2,c.1601C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.908),1;HK1,missense_variant,p.A530V,ENST00000359426,NM_000188.2,c.1589C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.519),1;HK1,missense_variant,p.A529V,ENST00000298649,NM_033496.2,c.1586C>T,MODERATE,,deleterious(0.03),probably_damaging(0.988),1;HK1,non_coding_transcript_exon_variant,,ENST00000494253,,n.1815C>T,MODIFIER,,,,1	T	ENST00000359426	Transcript	missense_variant	missense_variant	1693/3605	1589/2754	530/917	A/V	gCc/gTc		1		1	HK1	HGNC	HGNC:4922	protein_coding		CCDS7292.1	ENSP00000352398	P19367		UPI0000111BA5	NM_000188.2	deleterious(0.03)	possibly_damaging(0.519)	11/18		Pfam_domain:PF00349;Prints_domain:PR00475;Superfamily_domains:SSF53067																	MODERATE		SNV	1			1											PASS	CTTGGCCCTGG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	3	4	9	69384351	69384351	C	T	1	0	0	0	0	1	0	0	0	7079	739	26	3		3	HK1	10	69384351	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		69384351	64413071	14	121											
NRXN2	9379	BI	GRCh38	chr11	64651462	64651477	+	Frame_Shift_Del	DEL	CAGTAGGTGATGTCAC	CAGTAGGTGATGTCAC	-													caaagcgagcattgagctcaCagtaggtgatgtcaccatcc					novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.2696_2711delGTGACATCACCTACTG	p.Gly899ValfsTer84	p.G899Vfs*84	ENST00000265459	14/23	14	11	3	30			NRXN2,frameshift_variant,p.G899Vfs*84,ENST00000265459,NM_015080.3,c.2696_2711delGTGACATCACCTACTG,HIGH,YES,,,-1;NRXN2,frameshift_variant,p.G859Vfs*84,ENST00000377559,NM_138732.2,c.2576_2591delGTGACATCACCTACTG,HIGH,,,,-1;NRXN2,frameshift_variant,p.G892Vfs*84,ENST00000409571,,c.2675_2690delGTGACATCACCTACTG,HIGH,,,,-1;NRXN2,frameshift_variant,p.G899Vfs*84,ENST00000377551,,c.2696_2711delGTGACATCACCTACTG,HIGH,,,,-1;AP001092.4,intron_variant,,ENST00000433606,,n.180+4886_180+4901delGTAGGTGATGTCACCA,MODIFIER,YES,,,1;NRXN2,non_coding_transcript_exon_variant,,ENST00000486057,,n.340_355delGTGACATCACCTACTG,MODIFIER,,,,-1	-	ENST00000265459	Transcript	frameshift_variant	frameshift_variant	3158-3173/6621	2696-2711/5139	899-904/1712	GDITYC/X	gGTGACATCACCTACTGt/gt		1		-1	NRXN2	HGNC	HGNC:8009	protein_coding	YES	CCDS8077.1	ENSP00000265459	Q9P2S2		UPI0000130AA2	NM_015080.3			14/23		PROSITE_profiles:PS50025																	HIGH		deletion	5			1											PASS	AGCTCACAGTAGGTGATGTCACCATCC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			False	Unknown	-	7	5	9	64651462	64651462	CAGTAGGTGATGTCAC	-	1	0	1	0	1	0	0	0	0	10725	478	17	0		0	NRXN2	11	64651462	Frame_Shift_Del	DEL	CAGTAGGTGATGTCAC	TCGA-V4-A9EC-01A-11D-A39W-08		64651462	70435160	15	122											
COL4A2	1284	BI	GRCh38	chr13	110445857	110445857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcctggatggctatcaagGgcctgatggaccccggggac	16	11	1	1	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.986G>C	p.Gly329Ala	p.G329A	ENST00000360467	17/48	109	57	52	95			COL4A2,missense_variant,p.G329A,ENST00000360467,NM_001846.2,c.986G>C,MODERATE,YES,,probably_damaging(0.999),1	C	ENST00000360467	Transcript	missense_variant	missense_variant	1292/6281	986/5139	329/1712	G/A	gGg/gCg		1		1	COL4A2	HGNC	HGNC:2203	protein_coding	YES	CCDS41907.1	ENSP00000353654	P08572	A0A024RDW8	UPI000041C713	NM_001846.2		probably_damaging(0.999)	17/48		Pfam_domain:PF01391;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1											PASS	TCAAGGGCCTG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	C	3	2	9	110445857	110445857	G	C	1	0	0	0	0	1	0	0	0	3479	1232	43	5		5	COL4A2	13	110445857	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		110445857	3918471	16	123											
NDN	4692	BI	GRCh38	chr15	23686854	23686854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gacatctttcaccatgtctgGaaaccagatgatcatcttct	6	11	6	2	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.364C>A	p.Pro122Thr	p.P122T	ENST00000331837	1/1	134	121	13	142			NDN,missense_variant,p.P122T,ENST00000331837,NM_002487.2,c.364C>A,MODERATE,YES,tolerated(0.47),probably_damaging(1),-1	T	ENST00000331837	Transcript	missense_variant	missense_variant	477/1931	364/966	122/321	P/T	Cca/Aca		1		-1	NDN	HGNC	HGNC:7675	protein_coding	YES	CCDS10014.1	ENSP00000332643	Q99608	X5D982	UPI000012FEF1	NM_002487.2	tolerated(0.47)	probably_damaging(1)	1/1		Pfam_domain:PF01454;PROSITE_profiles:PS50838																	MODERATE	1	SNV				1											PASS	GTCTGGAAACC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	3	4	9	23686854	23686854	G	T	1	0	0	0	0	1	0	0	0	10268	1174	41	5		5	NDN	15	23686854	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		23686854	78304335	17	124											
LRRC49	54839	BI	GRCh38	chr15	70900988	70900988	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaacgttcttctgaagAgaaaattctttactcagaca	5	9	6	3	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.260A>C	p.Glu87Ala	p.E87A	ENST00000260382	4/16	40	21	19	115			LRRC49,missense_variant,p.E77A,ENST00000544974,NM_001284357.1,c.230A>C,MODERATE,,deleterious(0.02),possibly_damaging(0.728),1;LRRC49,missense_variant,p.E43A,ENST00000443425,NM_001199018.2,c.128A>C,MODERATE,,deleterious(0),possibly_damaging(0.508),1;LRRC49,missense_variant,p.E87A,ENST00000260382,NM_017691.4,c.260A>C,MODERATE,,deleterious(0.03),benign(0.217),1;LRRC49,missense_variant,p.E92A,ENST00000560369,NM_001199017.2,c.275A>C,MODERATE,YES,deleterious(0.02),possibly_damaging(0.607),1;LRRC49,5_prime_UTR_variant,,ENST00000560691,,c.-696A>C,MODIFIER,,,,1;LRRC49,5_prime_UTR_variant,,ENST00000558546,,c.-208A>C,MODIFIER,,,,1;LRRC49,5_prime_UTR_variant,,ENST00000557977,,c.-208A>C,MODIFIER,,,,1;LRRC49,downstream_gene_variant,,ENST00000560755,,,MODIFIER,,,,1;LRRC49,non_coding_transcript_exon_variant,,ENST00000436542,,n.476A>C,MODIFIER,,,,1;LRRC49,intron_variant,,ENST00000558799,,n.409-3564A>C,MODIFIER,,,,1;LRRC49,upstream_gene_variant,,ENST00000558137,,,MODIFIER,,,,1;LRRC49,3_prime_UTR_variant,,ENST00000561081,,c.*124A>C,MODIFIER,,,,1;LRRC49,3_prime_UTR_variant,,ENST00000559201,,c.*169A>C,MODIFIER,,,,1;LRRC49,non_coding_transcript_exon_variant,,ENST00000560980,,n.306A>C,MODIFIER,,,,1;LRRC49,non_coding_transcript_exon_variant,,ENST00000558271,,n.492A>C,MODIFIER,,,,1;LRRC49,intron_variant,,ENST00000560107,,c.194-3564A>C,MODIFIER,,,,1;LRRC49,intron_variant,,ENST00000558204,,c.*189-3564A>C,MODIFIER,,,,1;LRRC49,intron_variant,,ENST00000559670,,c.106-3564A>C,MODIFIER,,,,1;LRRC49,downstream_gene_variant,,ENST00000558032,,,MODIFIER,,,,1	C	ENST00000260382	Transcript	missense_variant	missense_variant	520/2784	260/2061	87/686	E/A	gAg/gCg		1		1	LRRC49	HGNC	HGNC:25965	protein_coding		CCDS32282.1	ENSP00000260382	Q8IUZ0		UPI000013F990	NM_017691.4	deleterious(0.03)	benign(0.217)	4/16																			MODERATE		SNV	1			1											PASS	TGAAGAGAAAA	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	C	3	2	9	70900988	70900988	A	C	1	0	0	0	0	1	0	0	0	8901	304	11	5		5	LRRC49	15	70900988	Missense_Mutation	SNP	A	TCGA-V4-A9EC-01A-11D-A39W-08	47214134	70900988	31090201	18	125											
KRTAP4-4	84616	BI	GRCh38	chr17	41160533	41160533	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtcctgcagcaggtGgtctggcagcactggggtct	17	10	2	0	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.159C>T	p.=	p.T53T	ENST00000390661	1/1	30	17	13	74			KRTAP4-4,synonymous_variant,p.T53T,ENST00000390661,NM_032524.1,c.159C>T,LOW,YES,,,-1	A	ENST00000390661	Transcript	synonymous_variant	synonymous_variant	199/1081	159/501	53/166	T	acC/acT		1		-1	KRTAP4-4	HGNC	HGNC:16928	protein_coding	YES	CCDS11383.1	ENSP00000375076	Q9BYR3		UPI000006DEC1	NM_032524.1			1/1		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50311																	LOW	1	SNV				1											PASS	CAGGTGGTCTG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	A	2	1	9	41160533	41160533	G	A	1	0	0	0	0	0	0	0	1	8447	1335	47	3		3	KRTAP4-4	17	41160533	Silent	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		41160533	42096908	19	126											
DSG1	1828	BI	GRCh38	chr18	31333640	31333640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgaccgagatggcgggGcagatggcatgtcagcggaa	17	9	2	3	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.736G>A	p.Ala246Thr	p.A246T	ENST00000257192	7/15	59	30	29	60			DSG1,missense_variant,p.A246T,ENST00000257192,NM_001942.2,c.736G>A,MODERATE,YES,tolerated(0.16),benign(0.1),1	A	ENST00000257192	Transcript	missense_variant	missense_variant	948/5045	736/3150	246/1049	A/T	Gca/Aca		1		1	DSG1	HGNC	HGNC:3048	protein_coding	YES	CCDS11896.1	ENSP00000257192	Q02413		UPI000013CF4C	NM_001942.2	tolerated(0.16)	benign(0.1)	7/15		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	GCGGGGCAGAT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	A	3	1	9	31333640	31333640	G	A	1	0	0	0	0	1	0	0	0	4597	1203	42	3		3	DSG1	18	31333640	Missense_Mutation	SNP	G	TCGA-V4-A9EC-01A-11D-A39W-08		31333640	49039645	20	127											
SIM2	6493	BI	GRCh38	chr21	36743406	36743406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagattgaatacaaggaaCttcagctgtccctggagcag	13	8	1	2	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.1018C>T	p.Leu340Phe	p.L340F	ENST00000290399	9/11	65	54	11	92			SIM2,missense_variant,p.L340F,ENST00000290399,NM_005069.3&NM_009586.2,c.1018C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.66),1;SIM2,missense_variant,p.L278F,ENST00000431229,,c.830C>T,MODERATE,,deleterious(0.01),probably_damaging(0.927),1;SIM2,non_coding_transcript_exon_variant,,ENST00000481185,,n.1631C>T,MODIFIER,,,,1	T	ENST00000290399	Transcript	missense_variant	missense_variant	1631/4442	1018/2004	340/667	L/F	Ctt/Ttt		1		1	SIM2	HGNC	HGNC:10883	protein_coding	YES	CCDS13646.1	ENSP00000290399	Q14190		UPI000013599A	NM_005069.3;NM_009586.2	deleterious(0.01)	possibly_damaging(0.66)	9/11																			MODERATE	1	SNV	1			1											PASS	AGGAACTTCAG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	T	3	4	9	36743406	36743406	C	T	1	0	0	0	0	1	0	0	0	14587	565	20	3		3	SIM2	21	36743406	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		36743406	9966577	21	128											
EP300	2033	BI	GRCh38	chr22	41177596	41177596	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccgatgactcccaTggcccccatgggtatgaacc	10	16	0	2	novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.5885T>C	p.Met1962Thr	p.M1962T	ENST00000263253	31/31	70	39	31	63			EP300,missense_variant,p.M1962T,ENST00000263253,NM_001429.3,c.5885T>C,MODERATE,YES,,benign(0.135),1;EP300-AS1,intron_variant,,ENST00000420537,,n.224-2772A>G,MODIFIER,YES,,,-1;RP1-85F18.6,intron_variant,,ENST00000415054,,n.82+5467A>G,MODIFIER,YES,,,-1	C	ENST00000263253	Transcript	missense_variant	missense_variant	7104/9585	5885/7245	1962/2414	M/T	aTg/aCg		1		1	EP300	HGNC	HGNC:3373	protein_coding	YES	CCDS14010.1	ENSP00000263253	Q09472		UPI00001AE876	NM_001429.3		benign(0.135)	31/31		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50322;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	TCCCATGGCCC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	C	3	2	9	41177596	41177596	T	C	1	0	0	0	0	1	0	0	0	4994	1464	51	4		4	EP300	22	41177596	Missense_Mutation	SNP	T	TCGA-V4-A9EC-01A-11D-A39W-08		41177596	9640872	22	129											
EIF1AX	1964	BI	GRCh38	chrX	20138613	20138613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccctgcgtctgtttttaCctcctttacctgatggttta	6	12	1	1			TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.26G>A	p.Gly9Asp	p.G9D	ENST00000379607	2/7	51	26	25	148			EIF1AX,missense_variant,p.G9D,ENST00000379607,NM_001412.3,c.26G>A,MODERATE,YES,deleterious(0),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2772G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant	230/4427	26/435	9/144	G/D	gGt/gAt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	TTTTACCTCCT	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381		COSM3372213	True	Unknown	T	3	4	9	20138613	20138613	C	T	1	0	0	0	0	1	0	0	0	4828	507	18	3		3	EIF1AX	23	20138613	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08		20138613	135902282	23	130											
RBM10	8241	BI	GRCh38	chrX	47179908	47179913	+	In_Frame_Del	DEL	CAGCAC	CAGCAC	-													ttgcgcaacctgaacccacaCagcaccatggattccatcct					novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.932_937delGCACCA	p.Ser311_Thr312del	p.S311_T312del	ENST00000377604	10/24	9	6	3	15			RBM10,inframe_deletion,p.S311_T312del,ENST00000377604,NM_005676.4&NM_001204467.1,c.932_937delGCACCA,MODERATE,,,,1;RBM10,inframe_deletion,p.S376_T377del,ENST00000329236,NM_001204468.1,c.1127_1132delGCACCA,MODERATE,YES,,,1;RBM10,inframe_deletion,p.S234_T235del,ENST00000345781,NM_001204466.1,c.701_706delGCACCA,MODERATE,,,,1;RBM10,inframe_deletion,p.S234_T235del,ENST00000628161,NM_152856.2,c.701_706delGCACCA,MODERATE,,,,1;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,,n.310_315delGCACCA,MODIFIER,,,,1;RBM10,intron_variant,,ENST00000496012,,n.169-1305_169-1300delGCACCA,MODIFIER,,,,1	-	ENST00000377604	Transcript	inframe_deletion	inframe_deletion	1672-1677/3747	930-935/2793	310-312/930	HST/H	caCAGCACc/cac		1		1	RBM10	HGNC	HGNC:9896	protein_coding		CCDS14274.1	ENSP00000366829	P98175		UPI0000070DF1	NM_005676.4;NM_001204467.1			10/24		PROSITE_profiles:PS50102;SMART_domains:SM00360;Superfamily_domains:SSF54928																	MODERATE		deletion	1	2		1											PASS	CCCACACAGCACCATGG	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			False	Unknown	-	7	5	9	47179908	47179908	CAGCAC	-	1	0	1	0	1	0	0	0	0	13277	477	17	0		0	RBM10	23	47179908	In_Frame_Del	DEL	CAGCAC	TCGA-V4-A9EC-01A-11D-A39W-08	27041295	47179908	108860987	24	131											
GABRE	2564	BI	GRCh38	chrX	151962604	151962604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtaacagaggcgttcgtCgtaccaggtctgggagaaga	15	7	1	3	rs749723666	byFrequency	TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.382G>A	p.Asp128Asn	p.D128N	ENST00000370328	4/9	80	41	39	91			GABRE,missense_variant,p.D128N,ENST00000370328,NM_004961.3,c.382G>A,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;MIR452,upstream_gene_variant,,ENST00000385020,,,MODIFIER,YES,,,-1;MIR224,upstream_gene_variant,,ENST00000384889,,,MODIFIER,YES,,,-1;GABRE,3_prime_UTR_variant,,ENST00000441219,,c.*428G>A,MODIFIER,,,,-1;GABRE,non_coding_transcript_exon_variant,,ENST00000474932,,n.108G>A,MODIFIER,,,,-1;GABRE,upstream_gene_variant,,ENST00000486255,,,MODIFIER,,,,-1;GABRE,upstream_gene_variant,,ENST00000476016,,,MODIFIER,,,,-1	T	ENST00000370328	Transcript	missense_variant	missense_variant	436/3152	382/1521	128/506	D/N	Gac/Aac	rs749723666	1		-1	GABRE	HGNC	HGNC:4085	protein_coding	YES	CCDS14703.1	ENSP00000359353	P78334		UPI00000307E6	NM_004961.3	deleterious(0)	probably_damaging(0.994)	4/9		Pfam_domain:PF02931;TIGRFAM_domain:TIGR00860;Superfamily_domains:SSF63712;Prints_domain:PR00252																	MODERATE	1	SNV	1			1	3.295e-05	2.28e-05	0	0	0	0	4.168e-05	0	0		panel_of_normals	TTCGTCGTACC	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381	gdc_pon		True	Unknown	T	3	4	9	151962604	151962604	C	T	1	0	0	0	0	1	0	0	0	6041	884	31	2		2	GABRE	23	151962604	Missense_Mutation	SNP	C	TCGA-V4-A9EC-01A-11D-A39W-08	104782696	151962604	4078291	25	132											
RENBP	5973	BI	GRCh38	chrX	153941621	153941621	+	Frame_Shift_Del	DEL	G	G	-													gcctttccgaatgcaatgacGgagcagaaaccagccggctt					novel		TCGA-V4-A9EC-01A-11D-A39W-08	TCGA-V4-A9EC-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97bf744b-75e3-448c-a19b-1ffcff0bd095	10e564b2-59b4-4c19-9434-386d5516eb05	c.802delC	p.Arg268ValfsTer15	p.R268Vfs*15	ENST00000393700	8/11	65	42	23	74			RENBP,frameshift_variant,p.R268Vfs*15,ENST00000393700,NM_002910.5,c.802delC,HIGH,YES,,,-1;RENBP,frameshift_variant,p.R254Vfs*15,ENST00000369997,,c.760delC,HIGH,,,,-1;RENBP,upstream_gene_variant,,ENST00000451114,,,MODIFIER,,,,-1;RENBP,downstream_gene_variant,,ENST00000462086,,,MODIFIER,,,,-1;RENBP,frameshift_variant,p.V146Sfs*16,ENST00000442361,,c.435delC,HIGH,,,,-1;RENBP,frameshift_variant,p.R19Vfs*15,ENST00000457282,,c.53delC,HIGH,,,,-1;RENBP,3_prime_UTR_variant,,ENST00000423624,,c.*623delC,MODIFIER,,,,-1;RENBP,downstream_gene_variant,,ENST00000475904,,,MODIFIER,,,,-1;RENBP,downstream_gene_variant,,ENST00000464227,,,MODIFIER,,,,-1;RENBP,downstream_gene_variant,,ENST00000471056,,,MODIFIER,,,,-1	-	ENST00000393700	Transcript	frameshift_variant	frameshift_variant	883/1388	802/1284	268/427	R/X	Cgt/gt		1		-1	RENBP	HGNC	HGNC:9959	protein_coding	YES	CCDS14738.2	ENSP00000377303	P51606		UPI0000E5B00C	NM_002910.5			8/11		Pfam_domain:PF07221;Superfamily_domains:SSF48208																	HIGH	1	deletion	1			1											PASS	AATGACGGAGCA	fea68522-a7cf-4959-90c2-34cf4defebde	deea1e04-9ddd-44ab-9d91-866a4f0fc237	17692791-8129-4e16-b8cb-42e931b2a9f9	eeab0529-31e6-4edb-bd2c-a21f2a169381			True	Unknown	-	7	5	9	153941621	153941621	G	-	1	0	1	0	1	0	0	0	0	13395	1116	39	0		0	RENBP	23	153941621	Frame_Shift_Del	DEL	G	TCGA-V4-A9EC-01A-11D-A39W-08	1979017	153941621	2099274	26	133											
TIE1	7075	BI	GRCh38	chr1	43313167	43313167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgacacctccacgcccagGccctctcagactccgagatc	7	21	1	2	novel		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.1960G>A	p.Ala654Thr	p.A654T	ENST00000372476	13/23	49	45	4	41			TIE1,missense_variant,p.A654T,ENST00000372476,NM_001253357.1&NM_005424.4,c.1960G>A,MODERATE,YES,tolerated(1),probably_damaging(0.953),1;TIE1,downstream_gene_variant,,ENST00000538015,,,MODIFIER,,,,1;TIE1,upstream_gene_variant,,ENST00000473014,,,MODIFIER,,,,1;TIE1,upstream_gene_variant,,ENST00000461061,,,MODIFIER,,,,1;TIE1,downstream_gene_variant,,ENST00000488437,,,MODIFIER,,,,1;TIE1,upstream_gene_variant,,ENST00000471187,,,MODIFIER,,,,1;TIE1,upstream_gene_variant,,ENST00000492599,,,MODIFIER,,,,1;TIE1,downstream_gene_variant,,ENST00000480269,,,MODIFIER,,,,1	A	ENST00000372476	Transcript	missense_variant	missense_variant	2039/3882	1960/3417	654/1138	A/T	Gcc/Acc		1		1	TIE1	HGNC	HGNC:11809	protein_coding	YES	CCDS482.1	ENSP00000361554	P35590		UPI0000032E59	NM_001253357.1;NM_005424.4	tolerated(1)	probably_damaging(0.953)	13/23		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1											PASS	CCCAGGCCCTC	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697			False	Unknown	A	3	1	10	43313167	43313167	G	A	1	0	0	0	0	1	0	0	0	16329	1203	42	3		3	TIE1	1	43313167	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		43313167	205643255	1	134											
HSD17B7	51478	BI	GRCh38	chr1	162803453	162803453	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctctattccaatgtggcctGtccaggtacagcattgacca	8	12	1	1	novel		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.665G>C	p.Cys222Ser	p.C222S	ENST00000254521	6/9	70	45	25	80			HSD17B7,missense_variant,p.C222S,ENST00000254521,NM_016371.2,c.665G>C,MODERATE,YES,deleterious(0.02),possibly_damaging(0.607),1;HSD17B7,non_coding_transcript_exon_variant,,ENST00000485405,,n.1783G>C,MODIFIER,,,,1;HSD17B7,downstream_gene_variant,,ENST00000463037,,,MODIFIER,,,,1;HSD17B7,downstream_gene_variant,,ENST00000484251,,,MODIFIER,,,,1;HSD17B7,non_coding_transcript_exon_variant,,ENST00000488656,,n.536G>C,MODIFIER,,,,1;HSD17B7,non_coding_transcript_exon_variant,,ENST00000494450,,n.457G>C,MODIFIER,,,,1;HSD17B7,intron_variant,,ENST00000470195,,c.*22-814G>C,MODIFIER,,,,1;HSD17B7,downstream_gene_variant,,ENST00000466176,,,MODIFIER,,,,1	C	ENST00000254521	Transcript	missense_variant	missense_variant	720/1190	665/1026	222/341	C/S	tGt/tCt		1		1	HSD17B7	HGNC	HGNC:5215	protein_coding	YES	CCDS1242.1	ENSP00000254521	P56937	A0A024R913	UPI000004C64C	NM_016371.2	deleterious(0.02)	possibly_damaging(0.607)	6/9		Prints_domain:PR00081;Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1											PASS	GGCCTGTCCAG	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697			True	Unknown	C	3	2	10	162803453	162803453	G	C	1	0	0	0	0	1	0	0	0	7282	1377	48	5		5	HSD17B7	1	162803453	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	119490286	162803453	86152969	2	135											
AMER3	205147	BI	GRCh38	chr2	130762600	130762600	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagactgaggacttggcctcGctggcggccgaggggaaaag	17	9	0	2	rs776935592	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.528G>A	p.=	p.S176S	ENST00000321420	2/2	73	47	26	77			AMER3,synonymous_variant,p.S176S,ENST00000423981,NM_001105194.1&NM_001105195.1&NM_001105193.1,c.528G>A,LOW,YES,,,1;AMER3,synonymous_variant,p.S176S,ENST00000321420,NM_152698.2,c.528G>A,LOW,,,,1;AMER3,synonymous_variant,p.S176S,ENST00000458606,,c.528G>A,LOW,,,,1;AMER3,downstream_gene_variant,,ENST00000431758,,,MODIFIER,,,,1	A	ENST00000321420	Transcript	synonymous_variant	synonymous_variant	787/3273	528/2586	176/861	S	tcG/tcA	rs776935592	1		1	AMER3	HGNC	HGNC:26771	protein_coding		CCDS2164.1	ENSP00000314914	Q8N944			NM_152698.2			2/2																			LOW		SNV	1			1	0.0001071	0.000109	0	0	0	0	3.065e-05	0	0.0006677		PASS	GCCTCGCTGGC	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697	common_in_exac		True	Unknown	A	2	1	10	130762600	130762600	G	A	1	0	0	0	0	0	0	0	1	669	1074	38	2		2	AMER3	2	130762600	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		130762600	111430929	3	136											
CEP164	22897	BI	GRCh38	chr11	117397247	117397247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccatgagctggccagtgcGcaggaggtggccaaagaccc	15	13	0	2	rs149964584	by1000G	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.3435G>A	p.=	p.A1145A	ENST00000278935	27/33	41	38	3	46			CEP164,synonymous_variant,p.A1145A,ENST00000278935,NM_014956.4&NM_001271933.1,c.3435G>A,LOW,YES,,,1;CEP164,non_coding_transcript_exon_variant,,ENST00000533706,,n.2759G>A,MODIFIER,,,,1;CEP164,non_coding_transcript_exon_variant,,ENST00000533223,,n.4317G>A,MODIFIER,,,,1;CEP164,non_coding_transcript_exon_variant,,ENST00000533675,,n.3662G>A,MODIFIER,,,,1	A	ENST00000278935	Transcript	synonymous_variant	synonymous_variant	3582/5630	3435/4383	1145/1460	A	gcG/gcA	rs149964584	1		1	CEP164	HGNC	HGNC:29182	protein_coding	YES	CCDS31683.1	ENSP00000278935	Q9UPV0		UPI00001FA422	NM_014956.4;NM_001271933.1			27/33			2e-04	0	0		0.001	0	0										LOW	1	SNV	1			1	0.0002389	0.0002414	9.921e-05	0.001905	0.0001161	0	4.552e-05	0	0.0001213		PASS	AGTGCGCAGGA	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697	common_in_exac	COSM4574070	True	Unknown	A	2	1	10	117397247	117397247	G	A	1	0	0	0	0	0	0	0	1	2963	1074	38	2		2	CEP164	11	117397247	Silent	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		117397247	17689375	4	137											
ETS1	2113	BI	GRCh38	chr11	128490475	128490475	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttttgggatccccagtcGttgctgttctttagtgaaac	9	10	1	1			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.184C>T	p.Arg62Ter	p.R62*	ENST00000319397	2/8	118	99	19	124			ETS1,stop_gained,p.R106*,ENST00000392668,NM_001143820.1,c.316C>T,HIGH,YES,,,-1;ETS1,stop_gained,p.R62*,ENST00000526145,,c.184C>T,HIGH,,,,-1;ETS1,stop_gained,p.R62*,ENST00000319397,NM_005238.3,c.184C>T,HIGH,,,,-1;ETS1,stop_gained,p.R62*,ENST00000531611,,c.184C>T,HIGH,,,,-1;ETS1,stop_gained,p.R34*,ENST00000608978,,c.100C>T,HIGH,,,,-1;ETS1,intron_variant,,ENST00000535549,NM_001162422.1,c.83-10024C>T,MODIFIER,,,,-1	A	ENST00000319397	Transcript	stop_gained	stop_gained	494/2231	184/1326	62/441	R/*	Cga/Tga		1		-1	ETS1	HGNC	HGNC:3488	protein_coding		CCDS8475.1	ENSP00000324578	P14921		UPI000012A268	NM_005238.3			2/8		Pfam_domain:PF02198;SMART_domains:SM00251;Superfamily_domains:SSF47769;PIRSF_domain:PIRSF001698																	HIGH		SNV	1			1											PASS	CAGTCGTTGCT	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697		COSM6067954;COSM6067955;COSM6067956	True	Unknown	A	4	1	10	128490475	128490475	G	A	1	0	0	0	0	0	1	0	0	5139	1153	40	1		1	ETS1	11	128490475	Nonsense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08	11093228	128490475	6596147	5	138											
NACA	4666	BI	GRCh38	chr12	56719365	56719365	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggccagcactaaggtaGccagaggagcacaggtattc	14	10	0	1	novel		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.71-4678C>T			ENST00000356769		18	7	11	20			NACA,missense_variant,p.A722V,ENST00000454682,,c.2165C>T,MODERATE,,,benign(0.031),-1;NACA,intron_variant,,ENST00000550952,NM_001113203.2,c.1864+172C>T,MODIFIER,YES,,,-1;NACA,intron_variant,,ENST00000356769,NM_001113202.1,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000552540,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000393891,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000548563,,c.-183-4662C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000546392,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000550920,,c.64+172C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000549855,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000549259,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000552055,,c.71-4690C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000546862,,c.-183-4662C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551793,,n.112-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551775,,n.115-4678C>T,MODIFIER,,,,-1;NACA,upstream_gene_variant,,ENST00000550343,,,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551520,,n.106-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000547914,,c.71-4678C>T,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000548084,,c.71-4662C>T,MODIFIER,,,,-1	A	ENST00000356769	Transcript	intron_variant	intron_variant	-/2690	-/648	-/215				1		-1	NACA	HGNC	HGNC:7629	protein_coding		CCDS31837.1	ENSP00000349212	Q13765	A0A024RB41	UPI0000073EC7	NM_001113202.1				2/7																		MODIFIER		SNV	1			1											PASS	AGGTAGCCAGA	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697			True	Unknown	A	1	1	10	56719365	56719365	G	A	0	1	0	0	0	0	0	0	0	10139	971	34	3		3	NACA	12	56719365	Intron	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		56719365	76555944	6	139											
KIF5A	3798	BI	GRCh38	chr12	57576295	57576295	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcagatggagagTcaccgggaggcccatcaccg	15	12	2	2	novel		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.2115T>A	p.Ser705Arg	p.S705R	ENST00000455537	19/29	23	20	3	19			KIF5A,missense_variant,p.S705R,ENST00000455537,NM_004984.2,c.2115T>A,MODERATE,YES,tolerated(0.15),possibly_damaging(0.713),1;KIF5A,missense_variant,p.S616R,ENST00000286452,,c.1848T>A,MODERATE,,tolerated(0.16),benign(0.111),1	A	ENST00000455537	Transcript	missense_variant	missense_variant	2389/5824	2115/3099	705/1032	S/R	agT/agA		1		1	KIF5A	HGNC	HGNC:6323	protein_coding	YES	CCDS8945.1	ENSP00000408979	Q12840		UPI000013DE4C	NM_004984.2	tolerated(0.15)	possibly_damaging(0.713)	19/29		Superfamily_domains:SSF46579																	MODERATE	1	SNV	1			1											PASS	GAGAGTCACCG	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697			False	Unknown	A	3	1	10	57576295	57576295	T	A	1	0	0	0	0	1	0	0	0	8170	1664	58	5		5	KIF5A	12	57576295	Missense_Mutation	SNP	T	TCGA-V4-A9ED-01A-11D-A39W-08	856930	57576295	75699014	7	140											
CYSLTR2	57105	BI	GRCh38	chr13	48707203	48707203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	11	8	0	2			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.386T>A	p.Leu129Gln	p.L129Q	ENST00000282018	1/1	217	126	91	193			CYSLTR2,missense_variant,p.L129Q,ENST00000282018,NM_020377.2,c.386T>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CYSLTR2,missense_variant,p.L129Q,ENST00000614739,,c.386T>A,MODERATE,,deleterious(0),probably_damaging(1),1;CYSLTR2,downstream_gene_variant,,ENST00000622559,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000617562,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000621321,,,MODIFIER,,,,1	A	ENST00000282018	Transcript	missense_variant	missense_variant	649/4672	386/1041	129/346	L/Q	cTg/cAg		1		1	CYSLTR2	HGNC	HGNC:18274	protein_coding	YES	CCDS9412.1	ENSP00000282018	Q9NS75	Q5KU17	UPI000003BCCC	NM_020377.2	deleterious(0)	probably_damaging(1)	1/1		Pfam_domain:PF00001;Pfam_domain:PF05296;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Prints_domain:PR00237;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TTTCCTGACCG	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697		COSM1666392	True	Unknown	A	3	1	10	48707203	48707203	T	A	1	0	0	0	0	1	0	0	0	4005	1580	55	5		5	CYSLTR2	13	48707203	Missense_Mutation	SNP	T	TCGA-V4-A9ED-01A-11D-A39W-08		48707203	65657125	8	141											
ASIC2	40	BI	GRCh38	chr17	34156161	34156161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcagccagatgggggtcCgggatctgcaggttgacatc	17	9	2	2	rs770764384	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.372G>A	p.=	p.P124P	ENST00000359872	1/10	78	47	31	86			ASIC2,synonymous_variant,p.P124P,ENST00000359872,NM_001094.4,c.372G>A,LOW,,,,-1;ASIC2,downstream_gene_variant,,ENST00000583395,,,MODIFIER,,,,-1	T	ENST00000359872	Transcript	synonymous_variant	synonymous_variant	1134/3179	372/1539	124/512	P	ccG/ccA	rs770764384	1		-1	ASIC2	HGNC	HGNC:99	protein_coding		CCDS42296.1	ENSP00000352934	Q16515		UPI00000441F0	NM_001094.4			1/10		Pfam_domain:PF00858																	LOW	1	SNV	1			1	3.299e-05	3.313e-05	0	0	0	0	2.998e-05	0	0.0001212		PASS	GGGTCCGGGAT	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697		COSM1244077	True	Unknown	T	2	4	10	34156161	34156161	C	T	1	0	0	0	0	0	0	0	1	1186	639	23	2		2	ASIC2	17	34156161	Silent	SNP	C	TCGA-V4-A9ED-01A-11D-A39W-08		34156161	49101280	9	142											
BCAS1	8537	BI	GRCh38	chr20	53953606	53953606	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atctcggctgctgacttcttGtccttcgaggagccctcttt	9	13	3	1	novel		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	c.1506C>G	p.Asp502Glu	p.D502E	ENST00000395961	11/12	85	50	35	70			BCAS1,missense_variant,p.D373E,ENST00000448484,,c.1119C>G,MODERATE,,deleterious(0.02),probably_damaging(0.994),-1;BCAS1,missense_variant,p.D502E,ENST00000395961,NM_003657.2,c.1506C>G,MODERATE,YES,deleterious(0.02),possibly_damaging(0.505),-1;BCAS1,missense_variant,p.D424E,ENST00000371435,,c.1272C>G,MODERATE,,deleterious(0.04),possibly_damaging(0.846),-1;BCAS1,missense_variant,p.D302E,ENST00000371440,,c.906C>G,MODERATE,,deleterious(0.05),probably_damaging(0.99),-1;BCAS1,missense_variant,p.D165E,ENST00000422805,,c.494C>G,MODERATE,,deleterious(0),probably_damaging(0.931),-1	C	ENST00000395961	Transcript	missense_variant	missense_variant	1673/3303	1506/1755	502/584	D/E	gaC/gaG		1		-1	BCAS1	HGNC	HGNC:974	protein_coding	YES	CCDS13444.1	ENSP00000379290	O75363		UPI000013D2E2	NM_003657.2	deleterious(0.02)	possibly_damaging(0.505)	11/12		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	TTCTTGTCCTT	92ffe5e1-4e84-4c97-9c82-98e8e225b08c	5b753f81-f887-4aaf-aedf-e989cba28514	850f6107-a6fd-46e8-b768-622d26b20f9c	367869f9-bbe7-4e57-a16f-f2b63f2de697			True	Unknown	C	3	2	10	53953606	53953606	G	C	1	0	0	0	0	1	0	0	0	1497	1368	48	5		5	BCAS1	20	53953606	Missense_Mutation	SNP	G	TCGA-V4-A9ED-01A-11D-A39W-08		53953606	10490561	10	143											
ZBTB7B	51043	BI	GRCh38	chr1	155015273	155015273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccgcagccgcaagcccCggaaagctttcctgcaaacc	9	19	0	0	rs199978828	byCluster	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.613C>T	p.Arg205Trp	p.R205W	ENST00000292176	1/2	44	31	13	44			ZBTB7B,missense_variant,p.R239W,ENST00000417934,NM_001252406.2,c.715C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.942),1;ZBTB7B,missense_variant,p.R205W,ENST00000535420,NM_001256455.1,c.613C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.876),1;ZBTB7B,missense_variant,p.R205W,ENST00000368426,,c.613C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.876),1;ZBTB7B,missense_variant,p.R205W,ENST00000292176,,c.613C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.876),1;DCST2,downstream_gene_variant,,ENST00000368424,NM_144622.2,,MODIFIER,YES,,,-1;ZBTB7B,non_coding_transcript_exon_variant,,ENST00000487542,,n.837C>T,MODIFIER,,,,1;ZBTB7B,downstream_gene_variant,,ENST00000461530,,,MODIFIER,,,,1;ZBTB7B,downstream_gene_variant,,ENST00000483226,,,MODIFIER,,,,1;DCST2,downstream_gene_variant,,ENST00000485982,,,MODIFIER,,,,-1;DCST2,downstream_gene_variant,,ENST00000368423,,,MODIFIER,,,,-1;DCST2,downstream_gene_variant,,ENST00000467991,,,MODIFIER,,,,-1	T	ENST00000292176	Transcript	missense_variant	missense_variant	826/2129	613/1620	205/539	R/W	Cgg/Tgg	rs199978828	1		1	ZBTB7B	HGNC	HGNC:18668	protein_coding		CCDS1081.1	ENSP00000292176	O15156		UPI0000073A63		deleterious(0.01)	possibly_damaging(0.876)	1/2		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1	8.24e-06	8.537e-06	0	0	0.0001174	0	0	0	0		PASS	AGCCCCGGAAA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	T	3	4	11	155015273	155015273	C	T	1	0	0	0	0	1	0	0	0	18124	643	23	2		2	ZBTB7B	1	155015273	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		155015273	93941149	1	144											
SLC26A9	115019	BI	GRCh38	chr1	205928032	205928032	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccactgtgagaccacaggcGacaccggggtggggaacctg	15	12	0	1	rs769381035	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.971C>T	p.Ser324Leu	p.S324L	ENST00000367135	9/21	30	15	15	23			SLC26A9,missense_variant,p.S324L,ENST00000367135,NM_052934.3,c.971C>T,MODERATE,,tolerated(1),benign(0.001),-1;SLC26A9,missense_variant,p.S324L,ENST00000367134,NM_134325.2,c.971C>T,MODERATE,YES,tolerated(1),benign(0.004),-1;SLC26A9,missense_variant,p.S324L,ENST00000340781,,c.971C>T,MODERATE,,tolerated(1),benign(0.004),-1;SLC26A9,non_coding_transcript_exon_variant,,ENST00000491127,,n.355C>T,MODIFIER,,,,-1;SLC26A9,non_coding_transcript_exon_variant,,ENST00000469392,,n.655C>T,MODIFIER,,,,-1;SLC26A9,upstream_gene_variant,,ENST00000461505,,,MODIFIER,,,,-1	A	ENST00000367135	Transcript	missense_variant	missense_variant	1085/4799	971/2376	324/791	S/L	tCg/tTg	rs769381035	1		-1	SLC26A9	HGNC	HGNC:14469	protein_coding		CCDS30990.1	ENSP00000356103	Q7LBE3		UPI000014028B	NM_052934.3	tolerated(1)	benign(0.001)	9/21		Pfam_domain:PF00916;TIGRFAM_domain:TIGR00815																	MODERATE		SNV	1			1	2.471e-05	2.546e-05	0	0	0	0	4.603e-05	0	0		PASS	CAGGCGACACC	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18		COSM3689312;COSM3689313	True	Unknown	A	3	1	11	205928032	205928032	G	A	1	0	0	0	0	1	0	0	0	14794	1059	37	2		2	SLC26A9	1	205928032	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	50912759	205928032	43028390	2	145											
BAP1	8314	BI	GRCh38	chr3	52407400	52407519	+	Splice_Site	DEL	TGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	TGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	-													tcccacagctcccacacaccTggcatggctattatgggcct					novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.376-59_436delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA		p.X126_splice	ENST00000460680	6/17	32	24	8	119			BAP1,splice_acceptor_variant,p.X126_splice,ENST00000460680,NM_004656.3,c.376-59_436delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,YES,,,-1;BAP1,splice_acceptor_variant,p.X126_splice,ENST00000296288,,c.376-59_436delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,,,,-1;BAP1,splice_acceptor_variant,p.X47_splice,ENST00000470173,,c.139-59_199delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;BAP1,splice_acceptor_variant,,ENST00000471532,,n.91-59_151delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,,,,-1;BAP1,splice_acceptor_variant,,ENST00000483984,,n.376-59_436delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,,,,-1;BAP1,splice_acceptor_variant,,ENST00000490917,,c.*117-59_*177delACCCATAGTCCTACCTGAGGAGAAATTATTCTGATACGGCCTTATTTTCTTCCCCGTAGAGCAAAGGATATGCGATTGGCAATGCCCCGGAGTTGGCCAAGGCCCATAATAGCCATGCCA,HIGH,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	splice_acceptor_variant	splice_acceptor_variant;coding_sequence_variant;intron_variant	?-908/3937	?-436/2190	?-146/729				1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			6/17	5/16																		HIGH	1	deletion	1			1											PASS	CACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAG	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			False	Unknown	-	8	5	11	52407400	52407400	TGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	-	1	0	1	0	1	0	0	1	0	1463	1594	55	0		0	BAP1	3	52407400	Splice_Site	DEL	TGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGT	TCGA-V4-A9EE-01A-11D-A39W-08		52407400	145888159	3	146											
RGS12	6002	BI	GRCh38	chr4	3417432	3417432	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatccctgaatgaagagctGggggatgaggacagcgagaa	16	7	0	5	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.2652G>A	p.=	p.L884L	ENST00000336727	8/17	44	28	16	33			RGS12,synonymous_variant,p.L884L,ENST00000382788,NM_002926.3,c.2652G>A,LOW,,,,1;RGS12,synonymous_variant,p.L884L,ENST00000344733,NM_198229.2,c.2652G>A,LOW,YES,,,1;RGS12,synonymous_variant,p.L884L,ENST00000336727,,c.2652G>A,LOW,,,,1;RGS12,synonymous_variant,p.L236L,ENST00000338806,NM_198227.1,c.708G>A,LOW,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000508158,,n.933G>A,MODIFIER,,,,1;RGS12,upstream_gene_variant,,ENST00000515521,,,MODIFIER,,,,1;RGS12,downstream_gene_variant,,ENST00000513784,,,MODIFIER,,,,1;RGS12,downstream_gene_variant,,ENST00000503041,,,MODIFIER,,,,1;RGS12,downstream_gene_variant,,ENST00000512990,,,MODIFIER,,,,1;RGS12,downstream_gene_variant,,ENST00000505570,,,MODIFIER,,,,1;RGS12,3_prime_UTR_variant,,ENST00000514268,,c.*626G>A,MODIFIER,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000512266,,n.1736G>A,MODIFIER,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000504194,,n.1609G>A,MODIFIER,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000513991,,n.1107G>A,MODIFIER,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000506998,,n.790G>A,MODIFIER,,,,1;RGS12,non_coding_transcript_exon_variant,,ENST00000506631,,n.843G>A,MODIFIER,,,,1;RGS12,upstream_gene_variant,,ENST00000510803,,,MODIFIER,,,,1	A	ENST00000336727	Transcript	synonymous_variant	synonymous_variant	2755/4674	2652/4344	884/1447	L	ctG/ctA		1		1	RGS12	HGNC	HGNC:9994	protein_coding		CCDS3366.1	ENSP00000338509	O14924		UPI0000133830				8/17																			LOW		SNV	2			1											PASS	GAGCTGGGGGA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	A	2	1	11	3417432	3417432	G	A	1	0	0	0	0	0	0	0	1	13466	1335	47	3		3	RGS12	4	3417432	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		3417432	186797123	4	147											
EVC	2121	BI	GRCh38	chr4	5797122	5797122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccctgacgcagatgCggctatcggggaagaagcac	14	12	0	3			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.1987C>T	p.Arg663Trp	p.R663W	ENST00000264956	14/21	45	39	6	36			EVC,missense_variant,p.R663W,ENST00000264956,NM_153717.2,c.1987C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;EVC,non_coding_transcript_exon_variant,,ENST00000515113,,n.211C>T,MODIFIER,,,,1;CRMP1,intron_variant,,ENST00000506216,,n.1647+28372G>A,MODIFIER,,,,-1;EVC,non_coding_transcript_exon_variant,,ENST00000506240,,n.305C>T,MODIFIER,,,,1	T	ENST00000264956	Transcript	missense_variant	missense_variant	2171/6431	1987/2979	663/992	R/W	Cgg/Tgg		1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_153717.2	deleterious(0)	probably_damaging(1)	14/21																			MODERATE	1	SNV	1			1											PASS	AGATGCGGCTA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18		COSM4125341	False	Unknown	T	3	4	11	5797122	5797122	C	T	1	0	0	0	0	1	0	0	0	5152	759	27	2		2	EVC	4	5797122	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	2379690	5797122	184417433	5	148											
LAMB1	3912	BI	GRCh38	chr7	107924361	107924361	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttaaattttctacttttttaTacttttcatcaagttcacca	1	8	4	0	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.5093A>C	p.Tyr1698Ser	p.Y1698S	ENST00000222399	33/34	37	34	3	37			LAMB1,missense_variant,p.Y1722S,ENST00000393561,,c.5165A>C,MODERATE,,deleterious(0),probably_damaging(0.931),-1;LAMB1,missense_variant,p.Y1698S,ENST00000222399,NM_002291.2,c.5093A>C,MODERATE,YES,deleterious(0),possibly_damaging(0.856),-1;DLD,downstream_gene_variant,,ENST00000205402,NM_000108.3,,MODIFIER,YES,,,1;DLD,downstream_gene_variant,,ENST00000440410,,,MODIFIER,,,,1;DLD,downstream_gene_variant,,ENST00000437604,,,MODIFIER,,,,1;LAMB1,non_coding_transcript_exon_variant,,ENST00000472714,,n.1120A>C,MODIFIER,,,,-1;DLD,intron_variant,,ENST00000417551,,c.*124+4978T>G,MODIFIER,,,,1;DLD,downstream_gene_variant,,ENST00000415325,,,MODIFIER,,,,1	G	ENST00000222399	Transcript	missense_variant	missense_variant	5324/5725	5093/5361	1698/1786	Y/S	tAt/tCt		1		-1	LAMB1	HGNC	HGNC:6486	protein_coding	YES	CCDS5750.1	ENSP00000222399	P07942		UPI00001AE63F	NM_002291.2	deleterious(0)	possibly_damaging(0.856)	33/34		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	TTTTATACTTT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			False	Unknown	G	3	3	11	107924361	107924361	T	G	1	0	0	0	0	1	0	0	0	8514	1406	49	5		5	LAMB1	7	107924361	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		107924361	51421612	6	149											
KIF13B	23303	BI	GRCh38	chr8	29167395	29167395	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttggtcagctgctccCggagtttctcaacttcttcc	8	14	3	0	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.1136G>A	p.Arg379Gln	p.R379Q	ENST00000524189	11/40	52	22	30	27			KIF13B,missense_variant,p.R379Q,ENST00000524189,NM_015254.3,c.1136G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.606),-1;KIF13B,missense_variant,p.R379Q,ENST00000521515,,c.1136G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.573),-1;KIF13B,3_prime_UTR_variant,,ENST00000522355,,c.*783G>A,MODIFIER,,,,-1;KIF13B,3_prime_UTR_variant,,ENST00000523968,,c.*1074G>A,MODIFIER,,,,-1	T	ENST00000524189	Transcript	missense_variant	missense_variant	1175/8745	1136/5481	379/1826	R/Q	cGg/cAg		1		-1	KIF13B	HGNC	HGNC:14405	protein_coding	YES	CCDS55217.1	ENSP00000427900	Q9NQT8			NM_015254.3	deleterious(0.02)	possibly_damaging(0.606)	11/40		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	GCTCCCGGAGT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	T	3	4	11	29167395	29167395	C	T	1	0	0	0	0	1	0	0	0	8139	652	23	2		2	KIF13B	8	29167395	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		29167395	115971241	7	150											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	72	33	39	69			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18		COSM28758	True	Unknown	G	3	3	11	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		77794572	60600145	8	151											
PMPCA	23203	BI	GRCh38	chr9	136421879	136421879	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgacatcaatgctcatgatGaacctggaatccaggcctgt	9	11	2	3	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.1311G>A	p.Met437Ile	p.M437I	ENST00000371717	12/13	42	17	25	37			PMPCA,missense_variant,p.M145I,ENST00000444897,,c.435G>A,MODERATE,,deleterious(0),possibly_damaging(0.885),1;PMPCA,missense_variant,p.M437I,ENST00000371717,NM_015160.2,c.1311G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.755),1;PMPCA,missense_variant,p.M306I,ENST00000399219,NM_001282944.1&NM_001282946.1,c.918G>A,MODERATE,,deleterious(0),possibly_damaging(0.693),1;PMPCA,downstream_gene_variant,,ENST00000462616,,,MODIFIER,,,,1;PMPCA,downstream_gene_variant,,ENST00000612553,,,MODIFIER,,,,1;PMPCA,downstream_gene_variant,,ENST00000620895,,,MODIFIER,,,,1	A	ENST00000371717	Transcript	missense_variant	missense_variant	1410/2174	1311/1578	437/525	M/I	atG/atA		1		1	PMPCA	HGNC	HGNC:18667	protein_coding	YES	CCDS35180.1	ENSP00000360782	Q10713		UPI00000703D3	NM_015160.2	deleterious(0)	possibly_damaging(0.755)	12/13		Superfamily_domains:SSF63411																	MODERATE	1	SNV	1			1											PASS	ATGATGAACCT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	A	3	1	11	136421879	136421879	G	A	1	0	0	0	0	1	0	0	0	12247	1290	45	3		3	PMPCA	9	136421879	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	58627307	136421879	1972838	9	152											
CHAT	1103	BI	GRCh38	chr10	49655122	49655122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagactggtgcccacctaCgagagcgcgtccatccgccg	12	16	0	2	rs145370753	byCluster	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.1662C>T	p.=	p.Y554Y	ENST00000337653	12/15	82	47	35	60			CHAT,synonymous_variant,p.Y472Y,ENST00000395562,NM_001142933.1,c.1416C>T,LOW,,,,1;CHAT,synonymous_variant,p.Y554Y,ENST00000337653,NM_020549.4,c.1662C>T,LOW,YES,,,1;CHAT,synonymous_variant,p.Y436Y,ENST00000351556,NM_001142929.1&NM_001142934.1&NM_020985.3,c.1308C>T,LOW,,,,1;CHAT,synonymous_variant,p.Y436Y,ENST00000339797,NM_020984.3,c.1308C>T,LOW,,,,1;CHAT,synonymous_variant,p.Y436Y,ENST00000395559,NM_020986.3,c.1308C>T,LOW,,,,1;CHAT,3_prime_UTR_variant,,ENST00000466590,,c.*1393C>T,MODIFIER,,,,1	T	ENST00000337653	Transcript	synonymous_variant	synonymous_variant	1815/2458	1662/2247	554/748	Y	taC/taT	rs145370753	1		1	CHAT	HGNC	HGNC:1912	protein_coding	YES	CCDS7232.1	ENSP00000337103	P28329			NM_020549.4			12/15		Pfam_domain:PF00755;Superfamily_domains:SSF52777								0	1e-04								LOW	1	SNV	1			1	8.236e-06	8.254e-06	0	0	0	0	1.503e-05	0	0		PASS	ACCTACGAGAG	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18		COSM5654153;COSM5654154	True	Unknown	T	2	4	11	49655122	49655122	C	T	1	0	0	0	0	0	0	0	1	3073	547	19	1		1	CHAT	10	49655122	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		49655122	84142300	10	153											
OR51B6	390058	BI	GRCh38	chr11	5351743	5351743	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgaccacaatgcccacagTgctaggtgttctgtggttag	11	9	1	1	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.236T>C	p.Val79Ala	p.V79A	ENST00000380219	1/1	74	30	44	72			OR51B6,missense_variant,p.V79A,ENST00000380219,NM_001004750.1,c.236T>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.468),1;HBG2,intron_variant,,ENST00000380259,,c.-564-5844A>G,MODIFIER,YES,,,-1;HBE1,intron_variant,,ENST00000380237,,c.-309-69792A>G,MODIFIER,YES,,,-1;HBG2,intron_variant,,ENST00000380252,,c.63-97229A>G,MODIFIER,,,,-1;HBE1,intron_variant,,ENST00000396895,,c.-266-81587A>G,MODIFIER,,,,-1;AC104389.28,intron_variant,,ENST00000415970,,n.85-4833A>G,MODIFIER,YES,,,-1;AC104389.28,intron_variant,,ENST00000418729,,n.85-4833A>G,MODIFIER,,,,-1;AC104389.28,intron_variant,,ENST00000420465,,n.46-4833A>G,MODIFIER,,,,-1;AC104389.28,intron_variant,,ENST00000420726,,n.303-4833A>G,MODIFIER,,,,-1;AC104389.31,upstream_gene_variant,,ENST00000450768,,,MODIFIER,YES,,,1	C	ENST00000380219	Transcript	missense_variant	missense_variant	236/939	236/939	79/312	V/A	gTg/gCg		1		1	OR51B6	HGNC	HGNC:19600	protein_coding	YES	CCDS31379.1	ENSP00000369568	Q9H340		UPI000014017D	NM_001004750.1	deleterious(0.01)	possibly_damaging(0.468)	1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Pfam_domain:PF10320;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE		SNV				1											PASS	CACAGTGCTAG	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	C	3	2	11	5351743	5351743	T	C	1	0	0	0	0	1	0	0	0	11166	1696	59	4		4	OR51B6	11	5351743	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		5351743	129734879	11	154											
MTNR1B	4544	BI	GRCh38	chr11	92969896	92969896	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgccgtggacgtcgtgggCaacctcctggtgatcctctc	12	15	1	1	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.171C>A	p.=	p.G57G	ENST00000257068	1/2	15	9	6	22			MTNR1B,missense_variant,p.Q39K,ENST00000528076,,c.113C>A,MODERATE,,,unknown(0),1;MTNR1B,synonymous_variant,p.G57G,ENST00000257068,NM_005959.3,c.171C>A,LOW,YES,,,1;RP11-676F20.1,downstream_gene_variant,,ENST00000532770,,,MODIFIER,YES,,,1;MTNR1B,synonymous_variant,p.G57G,ENST00000532482,,c.171C>A,LOW,,,,1	A	ENST00000257068	Transcript	synonymous_variant	synonymous_variant	177/1565	171/1089	57/362	G	ggC/ggA		1		1	MTNR1B	HGNC	HGNC:7464	protein_coding	YES	CCDS8290.1	ENSP00000257068	P49286		UPI0000050408	NM_005959.3			1/2		Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10328;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV	1			1											PASS	GTGGGCAACCT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	A	2	1	11	92969896	92969896	C	A	1	0	0	0	0	0	0	0	1	9939	697	25	5		5	MTNR1B	11	92969896	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08	87618153	92969896	42116726	12	155											
FBN1	2200	BI	GRCh38	chr15	48437869	48437869	+	Missense_Mutation	SNP	G	G	A													gatttctggatttgggtgatGaacactttcctccttcaaac					novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.6212C>T	p.Ser2071Leu	p.S2071L	ENST00000316623	51/66	109	68	41	133			FBN1,missense_variant,p.S2071L,ENST00000316623,NM_000138.4,c.6212C>T,MODERATE,YES,tolerated(0.18),benign(0.009),-1;FBN1,missense_variant,p.S507L,ENST00000559133,,c.1519C>T,MODERATE,,tolerated(0.15),benign(0.112),-1;FBN1,3_prime_UTR_variant,,ENST00000537463,,c.*1975C>T,MODIFIER,,,,-1;FBN1,non_coding_transcript_exon_variant,,ENST00000560820,,n.332C>T,MODIFIER,,,,-1;FBN1,upstream_gene_variant,,ENST00000560720,,,MODIFIER,,,,-1	A	ENST00000316623	Transcript	missense_variant	missense_variant	6668/11756	6212/8616	2071/2871	S/L	tCa/tTa		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	tolerated(0.18)	benign(0.009)	51/66		Pfam_domain:PF00683;PROSITE_profiles:PS50311;Superfamily_domains:SSF57581;PIRSF_domain:PIRSF036312																	MODERATE	1	SNV	1			1											PASS	GTGATGAACAC	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	A	3	1	11	48437869	48437869	G	A	1	0	0	0	0	1	0	0	0	5565	1294	45	3		3	FBN1	15	48437869	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		48437869	53553320	13	156	2	2									
FBN1	2200	BI	GRCh38	chr15	48437870	48437870	+	Missense_Mutation	SNP	A	A	G													atttctggatttgggtgatgAacactttcctccttcaaact					novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.6211T>C	p.Ser2071Pro	p.S2071P	ENST00000316623	51/66	110	70	40	131			FBN1,missense_variant,p.S2071P,ENST00000316623,NM_000138.4,c.6211T>C,MODERATE,YES,deleterious(0.03),possibly_damaging(0.588),-1;FBN1,missense_variant,p.S507P,ENST00000559133,,c.1518T>C,MODERATE,,deleterious(0.04),probably_damaging(0.94),-1;FBN1,3_prime_UTR_variant,,ENST00000537463,,c.*1974T>C,MODIFIER,,,,-1;FBN1,non_coding_transcript_exon_variant,,ENST00000560820,,n.331T>C,MODIFIER,,,,-1;FBN1,upstream_gene_variant,,ENST00000560720,,,MODIFIER,,,,-1	G	ENST00000316623	Transcript	missense_variant	missense_variant	6667/11756	6211/8616	2071/2871	S/P	Tca/Cca		1		-1	FBN1	HGNC	HGNC:3603	protein_coding	YES	CCDS32232.1	ENSP00000325527	P35555		UPI0000EE4EBC	NM_000138.4	deleterious(0.03)	possibly_damaging(0.588)	51/66		Pfam_domain:PF00683;PROSITE_profiles:PS50311;Superfamily_domains:SSF57581;PIRSF_domain:PIRSF036312																	MODERATE	1	SNV	1			1											PASS	TGATGAACACT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	G	3	3	11	48437870	48437870	A	G	1	0	0	0	0	1	0	0	0	5565	246	9	4		4	FBN1	15	48437870	Missense_Mutation	SNP	A	TCGA-V4-A9EE-01A-11D-A39W-08	1	48437870	53553319	14	157	2	2									
EFL1	79631	BI	GRCh38	chr15	82225212	82225212	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaactgcaaacattttGgaaacaaatataataactgg	6	7	1	0	rs771171710		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.1245C>T	p.=	p.S415S	ENST00000268206	12/20	39	22	17	40			EFTUD1,synonymous_variant,p.S415S,ENST00000268206,NM_024580.5,c.1245C>T,LOW,YES,,,-1;EFTUD1,synonymous_variant,p.S364S,ENST00000359445,NM_001040610.2,c.1092C>T,LOW,,,,-1;EFTUD1,downstream_gene_variant,,ENST00000561331,,,MODIFIER,,,,-1	A	ENST00000268206	Transcript	synonymous_variant	synonymous_variant	1414/3675	1245/3363	415/1120	S	tcC/tcT	rs771171710	1		-1	EFTUD1	HGNC	HGNC:25789	protein_coding	YES	CCDS42071.1	ENSP00000268206	Q7Z2Z2		UPI00001FEA35	NM_024580.5			12/20		Superfamily_domains:SSF50447																	LOW	1	SNV	1			1	8.277e-06	8.323e-06	0	0	0.0001165	0	0	0	0		PASS	ATTTTGGAAAC	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18		COSM3504536	True	Unknown	A	2	1	11	82225212	82225212	G	A	1	0	0	0	0	0	0	0	1	4785	1335	47	3		3	EFL1	15	82225212	Silent	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08	33787342	82225212	19765977	15	158											
HDAC5	10014	BI	GRCh38	chr17	44080454	44080454	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ggggggtccacacctcctgtCcatgccacgttcacattgta	10	14	1	0	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.2772G>C	p.Trp924Cys	p.W924C	ENST00000586802	22/27	54	27	27	49			HDAC5,missense_variant,p.W925C,ENST00000225983,NM_001015053.1,c.2775G>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;HDAC5,missense_variant,p.W839C,ENST00000336057,,c.2517G>C,MODERATE,,deleterious(0),probably_damaging(0.945),-1;HDAC5,missense_variant,p.W924C,ENST00000586802,NM_005474.4,c.2772G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;G6PC3,downstream_gene_variant,,ENST00000269097,NM_138387.3,,MODIFIER,YES,,,1;G6PC3,downstream_gene_variant,,ENST00000590253,,,MODIFIER,,,,1;G6PC3,downstream_gene_variant,,ENST00000591696,,,MODIFIER,,,,1;HDAC5,downstream_gene_variant,,ENST00000592385,,,MODIFIER,,,,-1;HDAC5,downstream_gene_variant,,ENST00000593013,,,MODIFIER,,,,-1;G6PC3,downstream_gene_variant,,ENST00000588558,,,MODIFIER,,,,1;G6PC3,downstream_gene_variant,,ENST00000585361,,,MODIFIER,,,,1;G6PC3,downstream_gene_variant,,ENST00000590639,,,MODIFIER,,,,1;HDAC5,downstream_gene_variant,,ENST00000588419,,,MODIFIER,,,,-1;HDAC5,upstream_gene_variant,,ENST00000586339,,,MODIFIER,,,,-1	G	ENST00000586802	Transcript	missense_variant	missense_variant	2983/3662	2772/3369	924/1122	W/C	tgG/tgC		1		-1	HDAC5	HGNC	HGNC:14068	protein_coding		CCDS45696.1	ENSP00000468004	Q9UQL6			NM_005474.4	deleterious(0)	probably_damaging(1)	22/27		Pfam_domain:PF00850;Superfamily_domains:SSF52768;PIRSF_domain:PIRSF037911																	MODERATE		SNV	1			1											PASS	CCTGTCCATGC	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	G	3	3	11	44080454	44080454	C	G	1	0	0	0	0	1	0	0	0	6897	856	30	5		5	HDAC5	17	44080454	Missense_Mutation	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		44080454	39176987	16	159											
SBK2	646643	BI	GRCh38	chr19	55529801	55529801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgctgcctccaggggcGccccaggtgctccctgatgg	13	18	0	1	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.979C>T	p.Arg327Cys	p.R327C	ENST00000344158	3/3	26	22	4	15			SBK2,missense_variant,p.R327C,ENST00000413299,NM_001101401.2,c.979C>T,MODERATE,YES,tolerated(0.22),possibly_damaging(0.825),-1;SBK2,missense_variant,p.R327C,ENST00000344158,,c.979C>T,MODERATE,,tolerated(0.22),possibly_damaging(0.825),-1	A	ENST00000344158	Transcript	missense_variant	missense_variant	988/1056	979/1047	327/348	R/C	Cgc/Tgc		1		-1	SBK2	HGNC	HGNC:34416	protein_coding		CCDS42631.1	ENSP00000345044	P0C263		UPI00015DFA43		tolerated(0.22)	possibly_damaging(0.825)	3/3		PROSITE_profiles:PS50011;SMART_domains:SM00220																	MODERATE		SNV	2			1											PASS	GGGGCGCCCCA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	A	3	1	11	55529801	55529801	G	A	1	0	0	0	0	1	0	0	0	14125	1087	38	2		2	SBK2	19	55529801	Missense_Mutation	SNP	G	TCGA-V4-A9EE-01A-11D-A39W-08		55529801	3087815	17	160											
TBC1D10A	83874	BI	GRCh38	chr22	30294072	30294072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcgacaccttctgcaaCagcgagaaaaggatctcccc	9	15	2	1	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.744G>A	p.=	p.L248L	ENST00000215790	7/9	67	35	32	72			TBC1D10A,synonymous_variant,p.L248L,ENST00000215790,NM_031937.2,c.744G>A,LOW,,,,-1;TBC1D10A,synonymous_variant,p.L255L,ENST00000403477,NM_001204240.1,c.765G>A,LOW,YES,,,-1;TBC1D10A,synonymous_variant,p.L160L,ENST00000403362,,c.480G>A,LOW,,,,-1;RP1-130H16.18,synonymous_variant,p.L122L,ENST00000434291,,c.366G>A,LOW,YES,,,-1;GATSL3,upstream_gene_variant,,ENST00000407689,NM_001037666.2,,MODIFIER,YES,,,-1;GATSL3,upstream_gene_variant,,ENST00000404953,,,MODIFIER,,,,-1;TBC1D10A,downstream_gene_variant,,ENST00000393906,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000498572,,,MODIFIER,,,,-1;TBC1D10A,synonymous_variant,p.L181L,ENST00000433426,,c.543G>A,LOW,,,,-1;RP1-130H16.18,synonymous_variant,p.L109L,ENST00000330168,,c.327G>A,LOW,,,,-1;RP1-130H16.18,synonymous_variant,p.L122L,ENST00000447976,,c.366G>A,LOW,,,,-1;RP1-130H16.18,synonymous_variant,p.L120L,ENST00000434987,,c.360G>A,LOW,,,,-1;RP1-130H16.18,synonymous_variant,p.L122L,ENST00000418047,,c.366G>A,LOW,,,,-1;TBC1D10A,3_prime_UTR_variant,,ENST00000437122,,c.*356G>A,MODIFIER,,,,-1;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000462073,,n.4280G>A,MODIFIER,,,,-1;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000467596,,n.1964G>A,MODIFIER,,,,-1;TBC1D10A,non_coding_transcript_exon_variant,,ENST00000466666,,n.93G>A,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000497605,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000421236,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000471480,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000463795,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000425691,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000440839,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000415484,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000492159,,,MODIFIER,,,,-1;GATSL3,upstream_gene_variant,,ENST00000440704,,,MODIFIER,,,,-1	T	ENST00000215790	Transcript	synonymous_variant	synonymous_variant	909/2077	744/1527	248/508	L	ctG/ctA		1		-1	TBC1D10A	HGNC	HGNC:23609	protein_coding		CCDS13874.1	ENSP00000215790	Q9BXI6		UPI0000001BE4	NM_031937.2			7/9		Pfam_domain:PF00566;PROSITE_profiles:PS50086;SMART_domains:SM00164;Superfamily_domains:SSF47923;Superfamily_domains:SSF47923																	LOW		SNV	1			1											PASS	TGCAACAGCGA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	T	2	4	11	30294072	30294072	C	T	1	0	0	0	0	0	0	0	1	15998	465	17	3		3	TBC1D10A	22	30294072	Silent	SNP	C	TCGA-V4-A9EE-01A-11D-A39W-08		30294072	20524396	18	161											
ZNF157	7712	BI	GRCh38	chrX	47412726	47412726	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacacaggggagaggccctTtgaatgtaatgaatgtggga	14	6	1	3	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.653T>C	p.Phe218Ser	p.F218S	ENST00000377073	4/4	35	4	31	19			ZNF157,missense_variant,p.F218S,ENST00000377073,NM_003446.3,c.653T>C,MODERATE,YES,deleterious(0),probably_damaging(0.983),1	C	ENST00000377073	Transcript	missense_variant	missense_variant	739/2318	653/1521	218/506	F/S	tTt/tCt		1		1	ZNF157	HGNC	HGNC:12942	protein_coding	YES	CCDS14278.1	ENSP00000366273	P51786		UPI00001AE9ED	NM_003446.3	deleterious(0)	probably_damaging(0.983)	4/4		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	GCCCTTTGAAT	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	C	3	2	11	47412726	47412726	T	C	1	0	0	0	0	1	0	0	0	18318	1841	64	4		4	ZNF157	23	47412726	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08		47412726	108628169	19	162											
GLA	2717	BI	GRCh38	chrX	101398477	101398477	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgtgtcggaggtcatTagacatgaataaaggagcag	14	5	1	3	novel		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	c.892A>G	p.Asn298Asp	p.N298D	ENST00000218516	6/7	99	14	85	86			GLA,missense_variant,p.N298D,ENST00000218516,NM_000169.2,c.892A>G,MODERATE,YES,deleterious(0.03),probably_damaging(0.999),-1;RPL36A-HNRNPH2,intron_variant,,ENST00000409338,,c.177+6655T>C,MODIFIER,,,,1;RPL36A-HNRNPH2,intron_variant,,ENST00000409170,NM_001199973.1,c.300+3020T>C,MODIFIER,YES,,,1;RPL36A,downstream_gene_variant,,ENST00000427805,,,MODIFIER,YES,,,1;RPL36A,downstream_gene_variant,,ENST00000614077,NM_021029.5,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000392994,,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000553110,,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000471855,,,MODIFIER,,,,1;GLA,non_coding_transcript_exon_variant,,ENST00000466414,,n.218A>G,MODIFIER,,,,-1;GLA,downstream_gene_variant,,ENST00000479445,,,MODIFIER,,,,-1;GLA,downstream_gene_variant,,ENST00000486121,,,MODIFIER,,,,-1;GLA,downstream_gene_variant,,ENST00000468823,,,MODIFIER,,,,-1;GLA,downstream_gene_variant,,ENST00000480513,,,MODIFIER,,,,-1;GLA,3_prime_UTR_variant,,ENST00000493905,,c.*280A>G,MODIFIER,,,,-1;RPL36A,downstream_gene_variant,,ENST00000465340,,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000465744,,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000372849,,,MODIFIER,,,,1;RPL36A,downstream_gene_variant,,ENST00000489407,,,MODIFIER,,,,1	C	ENST00000218516	Transcript	missense_variant	missense_variant	914/1318	892/1290	298/429	N/D	Aat/Gat		1		-1	GLA	HGNC	HGNC:4296	protein_coding	YES	CCDS14484.1	ENSP00000218516	P06280	Q53Y83	UPI0000033A30	NM_000169.2	deleterious(0.03)	probably_damaging(0.999)	6/7		Prints_domain:PR00740;Superfamily_domains:SSF51445																	MODERATE	1	SNV	1			1											PASS	GTCATTAGACA	8a2ee841-b96f-4459-9463-f01ce8dc70ba	c778cd10-999f-4f9c-80a6-5296ae35ecf1	c60d1c67-8c6c-4467-89a6-2b690496ecb2	edbf6720-467e-4928-b1cb-0e7336358d18			True	Unknown	C	3	2	11	101398477	101398477	T	C	1	0	0	0	0	1	0	0	0	6304	1754	61	4		4	GLA	23	101398477	Missense_Mutation	SNP	T	TCGA-V4-A9EE-01A-11D-A39W-08	53985751	101398477	54642418	20	163											
BAP1	8314	BI	GRCh38	chr3	52406367	52406367	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggttgaagcggatgtcgtgGtagggctccctgcagtcaca	15	9	1	1	novel		TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.669C>G	p.Tyr223Ter	p.Y223*	ENST00000460680	9/17	39	0	39	37			BAP1,stop_gained,p.Y223*,ENST00000460680,NM_004656.3,c.669C>G,HIGH,YES,,,-1;BAP1,intron_variant,,ENST00000296288,,c.660-45C>G,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,,n.836C>G,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	stop_gained	stop_gained	1141/3937	669/2190	223/729	Y/*	taC/taG		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			9/17		Superfamily_domains:SSF54001																	HIGH	1	SNV	1			1											PASS	TCGTGGTAGGG	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4			True	Unknown	C	4	2	12	52406367	52406367	G	C	1	0	0	0	0	0	1	0	0	1463	1256	44	5		5	BAP1	3	52406367	Nonsense_Mutation	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08		52406367	145889192	1	164											
GOLGB1	2804	BI	GRCh38	chr3	121719744	121719744	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgggcatctttctctcGgaccacctgctgcatggaac	10	13	2	0	novel		TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.658C>A	p.=	p.R220R	ENST00000340645	7/22	48	44	4	50			GOLGB1,synonymous_variant,p.R225R,ENST00000393667,NM_001256486.1,c.673C>A,LOW,YES,,,-1;GOLGB1,synonymous_variant,p.R220R,ENST00000340645,NM_004487.4,c.658C>A,LOW,,,,-1;GOLGB1,intron_variant,,ENST00000614479,NM_001256487.1&NM_001256488.1,c.532-1243C>A,MODIFIER,,,,-1;GOLGB1,intron_variant,,ENST00000494517,,c.649-1243C>A,MODIFIER,,,,-1;GOLGB1,intron_variant,,ENST00000489400,,c.369-1243C>A,MODIFIER,,,,-1;GOLGB1,3_prime_UTR_variant,,ENST00000482512,,c.*581C>A,MODIFIER,,,,-1	T	ENST00000340645	Transcript	synonymous_variant	synonymous_variant	784/11187	658/9780	220/3259	R	Cga/Aga		1		-1	GOLGB1	HGNC	HGNC:4429	protein_coding		CCDS3004.1	ENSP00000341848	Q14789		UPI000013F0A1	NM_004487.4			7/22		PROSITE_profiles:PS50322																	LOW		SNV	1			1											PASS	CTCTCGGACCA	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4			True	Unknown	T	2	4	12	121719744	121719744	G	T	1	0	0	0	0	0	0	0	1	6459	1124	39	5		5	GOLGB1	3	121719744	Silent	SNP	G	TCGA-V4-A9EF-01A-21D-A39W-08	69313377	121719744	76575815	2	165											
MYOF	26509	BI	GRCh38	chr10	93408846	93408846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgtgtctggccacagaCgtgaactttgaccacaggcc	12	12	1	3	rs762578223	byFrequency	TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.670G>A	p.Val224Ile	p.V224I	ENST00000359263	7/54	89	43	46	70			MYOF,missense_variant,p.V224I,ENST00000359263,NM_013451.3,c.670G>A,MODERATE,YES,tolerated(0.31),benign(0.016),-1;MYOF,missense_variant,p.V224I,ENST00000358334,NM_133337.2,c.670G>A,MODERATE,,tolerated(0.29),benign(0.01),-1;MYOF,missense_variant,p.V224I,ENST00000371489,,c.670G>A,MODERATE,,tolerated(0.19),benign(0.016),-1	T	ENST00000359263	Transcript	missense_variant	missense_variant	670/6719	670/6186	224/2061	V/I	Gtc/Atc	rs762578223	1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3	tolerated(0.31)	benign(0.016)	7/54		Pfam_domain:PF00168;PROSITE_profiles:PS50004;SMART_domains:SM00239;Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1	2.481e-05	2.484e-05	0	0	0	0	0	0	0.0001817		PASS	ACAGACGTGAA	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4		COSM1969981;COSM4182647;COSM4182648	True	Unknown	T	3	4	12	93408846	93408846	C	T	1	0	0	0	0	1	0	0	0	10090	536	19	1		1	MYOF	10	93408846	Missense_Mutation	SNP	C	TCGA-V4-A9EF-01A-21D-A39W-08		93408846	40388576	3	166											
DCPS	28960	BI	GRCh38	chr11	126306707	126306707	+	Frame_Shift_Del	DEL	C	C	-													cagttctccaatgatatctaCagcacctatcacttgttccc					novel		TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.339delC	p.Tyr113Ter	p.Y113*	ENST00000263579	2/6	46	28	18	38			DCPS,frameshift_variant,p.Y113*,ENST00000263579,NM_014026.3,c.339delC,HIGH,YES,,,1;RP11-712L6.5,upstream_gene_variant,,ENST00000524964,,,MODIFIER,,,,-1	-	ENST00000263579	Transcript	frameshift_variant	frameshift_variant	668/1479	339/1014	113/337	Y/X	taC/ta		1		1	DCPS	HGNC	HGNC:29812	protein_coding	YES	CCDS8473.1	ENSP00000263579	Q96C86			NM_014026.3			2/6		Pfam_domain:PF05652;Superfamily_domains:SSF102860;PIRSF_domain:PIRSF028973																	HIGH	1	deletion	1			1											PASS	TATCTACAGCAC	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4			True	Unknown	-	7	5	12	126306707	126306707	C	-	1	0	1	0	1	0	0	0	0	4103	489	17	0		0	DCPS	11	126306707	Frame_Shift_Del	DEL	C	TCGA-V4-A9EF-01A-21D-A39W-08		126306707	8779915	4	167											
C12orf71	728858	BI	GRCh38	chr12	27081268	27081268	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaccgatggggacttTtggtggcattcacagggtga	16	7	1	2	novel		TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.716A>G	p.Lys239Arg	p.K239R	ENST00000429849	2/2	74	44	30	53			C12orf71,missense_variant,p.K239R,ENST00000429849,NM_001080406.1,c.716A>G,MODERATE,YES,tolerated(0.24),benign(0.082),-1	C	ENST00000429849	Transcript	missense_variant	missense_variant	747/957	716/810	239/269	K/R	aAa/aGa		1		-1	C12orf71	HGNC	HGNC:34452	protein_coding	YES	CCDS44851.1	ENSP00000413728	A8MTZ7		UPI00001D79FA	NM_001080406.1	tolerated(0.24)	benign(0.082)	2/2																			MODERATE	1	SNV	2			1											PASS	GACTTTTGGTG	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4			True	Unknown	C	3	2	12	27081268	27081268	T	C	1	0	0	0	0	1	0	0	0	1821	1841	64	4		4	C12orf71	12	27081268	Missense_Mutation	SNP	T	TCGA-V4-A9EF-01A-21D-A39W-08		27081268	106194041	5	168											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EF-01A-21D-A39W-08	TCGA-V4-A9EF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4a76bb65-1241-44ac-b2ab-06e14e9cb219	abf3af68-1664-4c42-8be2-23b7e4a1e9a2	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	56	25	31	56			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	33e40184-00ab-4e5d-9e05-d30413c51f77	84fc5eb0-7037-4df2-840f-6dcc4948fd8f	ed7204e7-b92f-46b8-8140-028a8c1bad2f	a18d3ba3-e2f4-4144-9c25-2019cad193f4		COSM52969	True	Unknown	T	3	4	12	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EF-01A-21D-A39W-08		3118944	55498672	6	169											
TRIM62	55223	BI	GRCh38	chr1	33147279	33147279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgccagggaacttctcGcggaaggtgtagagccagga	15	9	1	1	rs746662481	byFrequency	TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.1326C>T	p.=	p.R442R	ENST00000291416	5/5	53	32	21	61			TRIM62,synonymous_variant,p.R442R,ENST00000291416,NM_018207.2,c.1326C>T,LOW,YES,,,-1;TRIM62,synonymous_variant,p.R321R,ENST00000543586,,c.963C>T,LOW,,,,-1;RP11-131M11.2,upstream_gene_variant,,ENST00000622988,,,MODIFIER,YES,,,-1	A	ENST00000291416	Transcript	synonymous_variant	synonymous_variant	1560/3437	1326/1428	442/475	R	cgC/cgT	rs746662481	1		-1	TRIM62	HGNC	HGNC:25574	protein_coding	YES	CCDS376.1	ENSP00000291416	Q9BVG3		UPI000004E050	NM_018207.2			5/5		Pfam_domain:PF00622;PROSITE_profiles:PS50188;SMART_domains:SM00449;Superfamily_domains:SSF49899																	LOW	1	SNV	1			1	0.0001565	0.0001567	0	0.001383	0	0	3.003e-05	0.001106	0		PASS	TTCTCGCGGAA	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8	common_in_exac		True	Unknown	A	2	1	13	33147279	33147279	G	A	1	0	0	0	0	0	0	0	1	17029	1074	38	2		2	TRIM62	1	33147279	Silent	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		33147279	215809143	1	170											
DEDD	9191	BI	GRCh38	chr1	161123026	161123026	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcccagcagttctttaTattctccttcaagtctgctc	6	12	4	0	novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.580+49A>G			ENST00000368006		87	44	43	111			DEDD,missense_variant,p.Y210C,ENST00000368005,,c.629A>G,MODERATE,,tolerated(0.18),unknown(0),-1;DEDD,intron_variant,,ENST00000368006,NM_032998.2,c.580+49A>G,MODIFIER,YES,,,-1;DEDD,intron_variant,,ENST00000545495,NM_001039711.1,c.580+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000458050,NM_001039712.1,c.580+49A>G,MODIFIER,,,,-1;NIT1,intron_variant,,ENST00000368008,NM_001185092.1,c.718-1115T>C,MODIFIER,,,,1;DEDD,intron_variant,,ENST00000490843,,c.580+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000464113,,c.580+49A>G,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000368007,NM_001185093.1,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000392190,NM_001185094.1,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000368009,NM_005600.2,,MODIFIER,YES,,,1;PFDN2,upstream_gene_variant,,ENST00000368010,NM_012394.3,,MODIFIER,YES,,,-1;DEDD,intron_variant,,ENST00000489249,,n.336+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000486041,,n.474+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000463227,,n.763+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000496632,,n.702+49A>G,MODIFIER,,,,-1;DEDD,intron_variant,,ENST00000473679,,n.608+49A>G,MODIFIER,,,,-1;NIT1,intron_variant,,ENST00000479728,,n.32+688T>C,MODIFIER,,,,1;DEDD,intron_variant,,ENST00000472996,,n.145-1883A>G,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000496861,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000491497,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000485594,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000492411,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000496768,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000461376,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000479266,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000486962,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000477684,,,MODIFIER,,,,1;PFDN2,upstream_gene_variant,,ENST00000468311,,,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000478277,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000473918,,,MODIFIER,,,,1	C	ENST00000368006	Transcript	intron_variant	intron_variant	-/2345	-/957	-/318				1		-1	DEDD	HGNC	HGNC:2755	protein_coding	YES	CCDS1219.1	ENSP00000356985	O75618		UPI0000031CE9	NM_032998.2				5/5																		MODIFIER	1	SNV	1			1											PASS	CTTTATATTCT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			True	Unknown	C	1	2	13	161123026	161123026	T	C	0	1	0	0	0	0	0	0	0	4187	1406	49	4		4	DEDD	1	161123026	Intron	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08	127975747	161123026	87833396	2	171											
NLRP3	114548	BI	GRCh38	chr1	247418813	247418813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaagatggcaagcaccCgctgcaagctggccaggtac	13	11	0	3			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.19C>T	p.Arg7Cys	p.R7C	ENST00000336119	1/9	34	24	10	36			NLRP3,missense_variant,p.R7C,ENST00000366497,NM_001127461.2,c.19C>T,MODERATE,,deleterious(0),probably_damaging(1),1;NLRP3,missense_variant,p.R7C,ENST00000336119,NM_001243133.1&NM_004895.4,c.19C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;NLRP3,missense_variant,p.R7C,ENST00000366496,,c.19C>T,MODERATE,,deleterious(0),probably_damaging(1),1;NLRP3,missense_variant,p.R7C,ENST00000391828,NM_001079821.2,c.19C>T,MODERATE,,deleterious(0),probably_damaging(1),1;NLRP3,missense_variant,p.R7C,ENST00000348069,NM_183395.2,c.19C>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;NLRP3,missense_variant,p.R7C,ENST00000391827,NM_001127462.2,c.19C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;NLRP3,non_coding_transcript_exon_variant,,ENST00000474792,,n.194C>T,MODIFIER,,,,1	T	ENST00000336119	Transcript	missense_variant	missense_variant	765/4170	19/3111	7/1036	R/C	Cgc/Tgc		1		1	NLRP3	HGNC	HGNC:16400	protein_coding	YES	CCDS1632.1	ENSP00000337383	Q96P20	A0A024R5Q0	UPI00001CE3AD	NM_001243133.1;NM_004895.4	deleterious(0)	probably_damaging(1)	1/9		Pfam_domain:PF02758;PROSITE_profiles:PS50824;Superfamily_domains:SSF47986																	MODERATE	1	SNV	1			1											PASS	GCACCCGCTGC	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8		COSM5460971	True	Unknown	T	3	4	13	247418813	247418813	C	T	1	0	0	0	0	1	0	0	0	10516	652	23	2		2	NLRP3	1	247418813	Missense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08	86295787	247418813	1537609	3	172											
FANCD2	2177	BI	GRCh38	chr3	10098878	10098878	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttgttaattgttctaagTtggtggagcagaactttgcc	10	5	1	1	novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.4281+63T>C			ENST00000383807		77	42	35	100			FANCD2,synonymous_variant,p.S1448S,ENST00000287647,NM_033084.3,c.4344T>C,LOW,YES,,,1;FANCD2,intron_variant,,ENST00000419585,,c.4281+63T>C,MODIFIER,,,,1;FANCD2,intron_variant,,ENST00000383807,NM_001018115.1,c.4281+63T>C,MODIFIER,,,,1;FANCD2OS,intron_variant,,ENST00000524279,NM_173472.1,c.*43+5320A>G,MODIFIER,,,,-1;FANCD2OS,downstream_gene_variant,,ENST00000453223,,,MODIFIER,,,,-1;FANCD2,intron_variant,,ENST00000470028,,n.354+63T>C,MODIFIER,,,,1;FANCD2OS,intron_variant,,ENST00000431315,,n.71-3988A>G,MODIFIER,,,,-1;FANCD2OS,upstream_gene_variant,,ENST00000436517,,,MODIFIER,,,,-1;FANCD2,intron_variant,,ENST00000421731,,c.*437+63T>C,MODIFIER,,,,1	C	ENST00000383807	Transcript	intron_variant	intron_variant	-/5102	-/4356	-/1451				1		1	FANCD2	HGNC	HGNC:3585	protein_coding		CCDS33696.1	ENSP00000373318	Q9BXW9	A0A024R2G2	UPI000006CD51	NM_001018115.1				43/43																		MODIFIER		SNV	1			1											PASS	CTAAGTTGGTG	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			True	Unknown	C	1	2	13	10098878	10098878	T	C	0	1	0	0	0	0	0	0	0	5524	1722	60	4		4	FANCD2	3	10098878	Intron	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		10098878	188196681	4	173											
WISP1	8840	BI	GRCh38	chr8	133227643	133227643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgtaacctgagctGtaggaatcccaatgacatct	8	11	2	2			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.1037G>A	p.Cys346Tyr	p.C346Y	ENST00000250160	5/5	70	47	23	56			WISP1,missense_variant,p.C346Y,ENST00000250160,NM_003882.3,c.1037G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;WISP1,missense_variant,p.C259Y,ENST00000220856,NM_080838.2,c.776G>A,MODERATE,,deleterious(0),probably_damaging(0.991),1;WISP1,missense_variant,p.C101Y,ENST00000519433,NM_001204870.1,c.302G>A,MODERATE,,deleterious(0),probably_damaging(1),1;WISP1,3_prime_UTR_variant,,ENST00000517423,NM_001204869.1,c.*114G>A,MODIFIER,,,,1;WISP1-OT1,upstream_gene_variant,,ENST00000602893,,,MODIFIER,YES,,,1;WISP1,3_prime_UTR_variant,,ENST00000377862,,c.*385G>A,MODIFIER,,,,1	A	ENST00000250160	Transcript	missense_variant	missense_variant	1143/3844	1037/1104	346/367	C/Y	tGt/tAt		1		1	WISP1	HGNC	HGNC:12769	protein_coding	YES	CCDS6371.1	ENSP00000250160	O95388		UPI00000359FE	NM_003882.3	deleterious(0)	probably_damaging(1)	5/5		Pfam_domain:PF00007;PROSITE_profiles:PS01225;SMART_domains:SM00041;PIRSF_domain:PIRSF036495																	MODERATE	1	SNV	1			1											PASS	GAGCTGTAGGA	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8		COSM5884654;COSM5884655	True	Unknown	A	3	1	13	133227643	133227643	G	A	1	0	0	0	0	1	0	0	0	17928	1377	48	3		3	WISP1	8	133227643	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		133227643	11910993	5	174											
MSS51	118490	BI	GRCh38	chr10	73426684	73426684	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaccctcctgtgtgcgggcCagtctgacttctggcactct	10	14	3	1	novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.425G>A	p.Trp142Ter	p.W142*	ENST00000299432	4/7	103	60	43	96			MSS51,stop_gained,p.W142*,ENST00000299432,NM_001024593.1,c.425G>A,HIGH,YES,,,-1;MSS51,stop_gained,p.W142*,ENST00000372912,,c.425G>A,HIGH,,,,-1;AL353731.1,upstream_gene_variant,,ENST00000584907,,,MODIFIER,YES,,,1;MSS51,stop_gained,p.W142*,ENST00000487126,,c.425G>A,HIGH,,,,-1;RP11-345K20.2,upstream_gene_variant,,ENST00000440913,,,MODIFIER,YES,,,-1	T	ENST00000299432	Transcript	stop_gained	stop_gained	491/2421	425/1383	142/460	W/*	tGg/tAg		1		-1	MSS51	HGNC	HGNC:21000	protein_coding	YES	CCDS31221.1	ENSP00000299432	Q4VC12		UPI00004CA0F2	NM_001024593.1			4/7		Pfam_domain:PF01753;PROSITE_profiles:PS50865;Superfamily_domains:SSF144232																	HIGH	1	SNV	1			1											PASS	CGGGCCAGTCT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			True	Unknown	T	4	4	13	73426684	73426684	C	T	1	0	0	0	0	0	1	0	0	9874	595	21	3		3	MSS51	10	73426684	Nonsense_Mutation	SNP	C	TCGA-V4-A9EH-01A-11D-A39W-08		73426684	60370738	6	175											
OR10AD1	121275	BI	GRCh38	chr12	48203061	48203061	+	Missense_Mutation	SNP	T	T	A													gatcaacatctgtgggatggTagtggtgatgaagcagacat					novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.232A>T	p.Thr78Ser	p.T78S	ENST00000310248	1/1	10	8	2	24			OR10AD1,missense_variant,p.T78S,ENST00000310248,NM_001004134.1,c.232A>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.695),-1;RP11-370I10.12,downstream_gene_variant,,ENST00000595310,,,MODIFIER,YES,,,1	A	ENST00000310248	Transcript	missense_variant	missense_variant	327/1305	232/954	78/317	T/S	Acc/Tcc		1		-1	OR10AD1	HGNC	HGNC:14819	protein_coding	YES	CCDS31787.1	ENSP00000308689	Q8NGE0		UPI0000041ECE	NM_001004134.1	deleterious(0.04)	possibly_damaging(0.695)	1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	GATGGTAGTGG	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			False	Unknown	A	3	1	13	48203061	48203061	T	A	1	0	0	0	0	1	0	0	0	10971	1638	57	5		5	OR10AD1	12	48203061	Missense_Mutation	SNP	T	TCGA-V4-A9EH-01A-11D-A39W-08		48203061	85072248	7	176	3	2									
OR10AD1	121275	BI	GRCh38	chr12	48203062	48203062	+	Silent	SNP	A	A	G													atcaacatctgtgggatggtAgtggtgatgaagcagacatc					novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.231T>C	p.=	p.T77T	ENST00000310248	1/1	9	7	2	22			OR10AD1,synonymous_variant,p.T77T,ENST00000310248,NM_001004134.1,c.231T>C,LOW,YES,,,-1;RP11-370I10.12,downstream_gene_variant,,ENST00000595310,,,MODIFIER,YES,,,1	G	ENST00000310248	Transcript	synonymous_variant	synonymous_variant	326/1305	231/954	77/317	T	acT/acC		1		-1	OR10AD1	HGNC	HGNC:14819	protein_coding	YES	CCDS31787.1	ENSP00000308689	Q8NGE0		UPI0000041ECE	NM_001004134.1			1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV				1											PASS	ATGGTAGTGGT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			False	Unknown	G	2	3	13	48203062	48203062	A	G	1	0	0	0	0	0	0	0	1	10971	407	15	4		4	OR10AD1	12	48203062	Silent	SNP	A	TCGA-V4-A9EH-01A-11D-A39W-08	1	48203062	85072247	8	177	3	2									
ALDH2	217	BI	GRCh38	chr12	111792646	111792646	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgttcttcaaccaggGccagtgctgctgtgccggct	12	15	2	0	novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.947G>C	p.Gly316Ala	p.G316A	ENST00000261733	9/13	15	9	6	18			ALDH2,missense_variant,p.G316A,ENST00000261733,NM_000690.3,c.947G>C,MODERATE,YES,deleterious(0.01),probably_damaging(1),1;ALDH2,missense_variant,p.G269A,ENST00000416293,NM_001204889.1,c.806G>C,MODERATE,,deleterious(0.01),probably_damaging(1),1;RP11-162P23.2,downstream_gene_variant,,ENST00000546840,,,MODIFIER,YES,,,1;ALDH2,missense_variant,p.G13A,ENST00000549106,,c.36G>C,MODERATE,,deleterious(0.02),benign(0.167),1;ALDH2,3_prime_UTR_variant,,ENST00000548536,,c.*823G>C,MODIFIER,,,,1	C	ENST00000261733	Transcript	missense_variant	missense_variant	1008/9569	947/1554	316/517	G/A	gGc/gCc		1		1	ALDH2	HGNC	HGNC:404	protein_coding	YES	CCDS9155.1	ENSP00000261733	P05091		UPI0000129293	NM_000690.3	deleterious(0.01)	probably_damaging(1)	9/13		Pfam_domain:PF00171;Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1											PASS	CCAGGGCCAGT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			True	Unknown	C	3	2	13	111792646	111792646	G	C	1	0	0	0	0	1	0	0	0	596	1203	42	5		5	ALDH2	12	111792646	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08	63589584	111792646	21482663	9	178											
SYNE2	23224	BI	GRCh38	chr14	64219303	64219304	+	Frame_Shift_Ins	INS	-	-	C													gctgaactctgatatcagcgINSccatcactacttggctgaaa					novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.19686dupC	p.Ile6563HisfsTer9	p.I6563Hfs*9	ENST00000344113	109/115	46	25	21	70			SYNE2,frameshift_variant,p.I6586Hfs*9,ENST00000358025,NM_182914.2,c.19755dupC,HIGH,YES,,,1;SYNE2,frameshift_variant,p.I6563Hfs*9,ENST00000344113,NM_015180.4,c.19686dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I6485Hfs*9,ENST00000357395,,c.19452dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I6479Hfs*9,ENST00000554584,,c.19434dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I3220Hfs*9,ENST00000555002,,c.9657dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I2948Hfs*9,ENST00000394768,,c.8841dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I441Hfs*9,ENST00000555022,,c.1320dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I346Hfs*9,ENST00000554805,,c.1035dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I94Hfs*9,ENST00000441438,NM_182910.2,c.279dupC,HIGH,,,,1;SYNE2,frameshift_variant,p.I220Hfs*9,ENST00000458046,NM_182913.2,c.657dupC,HIGH,,,,1;ESR2,intron_variant,,ENST00000556275,,c.1406+15666dupG,MODIFIER,,,,-1;SYNE2,3_prime_UTR_variant,,ENST00000555612,,c.*1465dupC,MODIFIER,,,,1;SYNE2,3_prime_UTR_variant,,ENST00000553289,,c.*1561dupC,MODIFIER,,,,1;SYNE2,3_prime_UTR_variant,,ENST00000557084,,c.*497dupC,MODIFIER,,,,1;SYNE2,non_coding_transcript_exon_variant,,ENST00000554928,,n.379dupC,MODIFIER,,,,1;SYNE2,downstream_gene_variant,,ENST00000557307,,,MODIFIER,,,,1	C	ENST00000344113	Transcript	frameshift_variant	frameshift_variant	19896-19897/21777	19684-19685/20658	6562/6885	A/AX	gcc/gCcc		1		1	SYNE2	HGNC	HGNC:17084	protein_coding		CCDS41963.1	ENSP00000341781	Q8WXH0		UPI00001B0452	NM_015180.4			109/115		Pfam_domain:PF00435;SMART_domains:SM00150;Superfamily_domains:SSF46966;Superfamily_domains:SSF48726																	HIGH		insertion	1	2		1											PASS	TCAGCGCCATC	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			True	Unknown	C	7	5	13	64219303	64219303	-	C	1	0	1	1	0	0	0	0	0	15838	1087	38	0		0	SYNE2	14	64219303	Frame_Shift_Ins	INS	-	TCGA-V4-A9EH-01A-11D-A39W-08		64219303	42824415	10	179											
ETFA	2108	BI	GRCh38	chr15	76286445	76286445	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacggacagaaaacactttcActttctcatcacacttcact	3	14	4	1	novel		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.488T>A	p.Val163Glu	p.V163E	ENST00000557943	6/12	35	32	3	25			ETFA,missense_variant,p.V163E,ENST00000557943,NM_000126.3,c.488T>A,MODERATE,YES,deleterious(0),probably_damaging(0.932),-1;ETFA,missense_variant,p.V114E,ENST00000433983,NM_001127716.1,c.341T>A,MODERATE,,deleterious(0),probably_damaging(0.932),-1;ETFA,missense_variant,p.V163E,ENST00000560595,,c.488T>A,MODERATE,,deleterious(0),probably_damaging(0.985),-1;ETFA,missense_variant,p.V163E,ENST00000559386,,c.488T>A,MODERATE,,deleterious(0),probably_damaging(0.936),-1;ETFA,missense_variant,p.V67E,ENST00000559973,,c.198T>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.957),-1;ETFA,missense_variant,p.V59E,ENST00000559602,,c.176T>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.93),-1;ETFA,missense_variant,p.V101E,ENST00000560345,,c.300T>A,MODERATE,,,,-1;ETFA,5_prime_UTR_variant,,ENST00000560726,,c.-293T>A,MODIFIER,,,,-1;ETFA,non_coding_transcript_exon_variant,,ENST00000560816,,n.47T>A,MODIFIER,,,,-1;ETFA,3_prime_UTR_variant,,ENST00000267950,,c.*211T>A,MODIFIER,,,,-1;ETFA,3_prime_UTR_variant,,ENST00000560044,,c.*483T>A,MODIFIER,,,,-1;ETFA,5_prime_UTR_variant,,ENST00000560899,,c.-293T>A,MODIFIER,,,,-1;ETFA,3_prime_UTR_variant,,ENST00000560309,,c.*401T>A,MODIFIER,,,,-1;ETFA,non_coding_transcript_exon_variant,,ENST00000559075,,n.512T>A,MODIFIER,,,,-1;ETFA,non_coding_transcript_exon_variant,,ENST00000559758,,n.329T>A,MODIFIER,,,,-1;ETFA,downstream_gene_variant,,ENST00000561092,,,MODIFIER,,,,-1;ETFA,upstream_gene_variant,,ENST00000558803,,,MODIFIER,,,,-1	T	ENST00000557943	Transcript	missense_variant	missense_variant	569/2287	488/1002	163/333	V/E	gTg/gAg		1		-1	ETFA	HGNC	HGNC:3481	protein_coding	YES	CCDS32299.1	ENSP00000452762	P13804		UPI0000001BC8	NM_000126.3	deleterious(0)	probably_damaging(0.932)	6/12		Pfam_domain:PF01012;SMART_domains:SM00893;Superfamily_domains:SSF52402;PIRSF_domain:PIRSF000089																	MODERATE	1	SNV	1			1											PASS	CTTTCACTTTC	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8			False	Unknown	T	3	4	13	76286445	76286445	A	T	1	0	0	0	0	1	0	0	0	5131	159	6	5		5	ETFA	15	76286445	Missense_Mutation	SNP	A	TCGA-V4-A9EH-01A-11D-A39W-08		76286445	25704744	11	180											
SNX20	124460	BI	GRCh38	chr16	50673468	50673468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcggggcgtgggcctccGgagctggctctcctccagcc	15	17	1	0	rs757162450		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.889C>T	p.Arg297Trp	p.R297W	ENST00000330943	4/4	63	34	29	72			SNX20,missense_variant,p.R297W,ENST00000330943,NM_182854.2,c.889C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.724),-1;SNX20,missense_variant,p.R133W,ENST00000610485,,c.397C>T,MODERATE,,deleterious(0.02),benign(0.19),-1;SNX20,intron_variant,,ENST00000300590,NM_153337.2,c.282+2302C>T,MODIFIER,,,,-1;SNX20,intron_variant,,ENST00000423026,NM_001144972.1,c.282+2302C>T,MODIFIER,,,,-1;RP11-401P9.5,downstream_gene_variant,,ENST00000570167,,,MODIFIER,YES,,,1;RP11-401P9.5,downstream_gene_variant,,ENST00000570241,,,MODIFIER,,,,1;SNX20,intron_variant,,ENST00000568993,,c.282+2302C>T,MODIFIER,,,,-1	A	ENST00000330943	Transcript	missense_variant	missense_variant	1061/2904	889/951	297/316	R/W	Cgg/Tgg	rs757162450	1		-1	SNX20	HGNC	HGNC:30390	protein_coding	YES	CCDS10745.1	ENSP00000332062	Q7Z614		UPI000004348D	NM_182854.2	deleterious(0.01)	possibly_damaging(0.724)	4/4																			MODERATE	1	SNV	1			1	8.243e-06	8.702e-06	0	0	0	0	0	0	6.744e-05		PASS	CCTCCGGAGCT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8		COSM4728815	True	Unknown	A	3	1	13	50673468	50673468	G	A	1	0	0	0	0	1	0	0	0	15213	1115	39	2		2	SNX20	16	50673468	Missense_Mutation	SNP	G	TCGA-V4-A9EH-01A-11D-A39W-08		50673468	39664877	12	181											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	48	21	27	60			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	242313bb-2196-4262-be82-7b72416fd33a	41f6d13d-aaaa-4ef4-bdd3-5b2251173857	62f5bcf5-2473-4a66-a304-6ca2ab33b558	5e54122f-1c4d-45cc-8842-cd1c1df0eed8		COSM52969	True	Unknown	T	3	4	13	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EH-01A-11D-A39W-08		3118944	55498672	13	182											
RYR2	6262	BI	GRCh38	chr1	237784264	237784264	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aacgaaggcggagagaaagaGaagatggaactctttgtgaa	14	4	1	4			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.12552G>A	p.=	p.E4184E	ENST00000366574	90/105	78	46	32	95			RYR2,synonymous_variant,p.E4184E,ENST00000366574,NM_001035.2,c.12552G>A,LOW,YES,,,1;RYR2,synonymous_variant,p.E4168E,ENST00000360064,,c.12504G>A,LOW,,,,1;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,,n.3747G>A,MODIFIER,,,,1	A	ENST00000366574	Transcript	synonymous_variant	synonymous_variant	12869/16562	12552/14904	4184/4967	E	gaG/gaA		1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2			90/105																			LOW	1	SNV	1			1											PASS	AAAGAGAAGAT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26		COSM4847146;COSM4847147	True	Unknown	A	2	1	14	237784264	237784264	G	A	1	0	0	0	0	0	0	0	1	14029	933	33	3		3	RYR2	1	237784264	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		237784264	11172158	1	183											
MYO7B	4648	BI	GRCh38	chr2	127566691	127566691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacccgttccaggtgctgCcgctctacaccctggagcag	10	16	2	0	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.334C>T	p.Pro112Ser	p.P112S	ENST00000409816	4/46	15	12	3	13			MYO7B,missense_variant,p.P112S,ENST00000428314,NM_001080527.1,c.334C>T,MODERATE,YES,tolerated(0.07),probably_damaging(1),1;MYO7B,missense_variant,p.P112S,ENST00000409816,,c.334C>T,MODERATE,,tolerated(0.07),probably_damaging(1),1	T	ENST00000409816	Transcript	missense_variant	missense_variant	366/6694	334/6351	112/2116	P/S	Ccg/Tcg		1		1	MYO7B	HGNC	HGNC:7607	protein_coding		CCDS46405.1	ENSP00000386461	Q6PIF6		UPI00006C04F0		tolerated(0.07)	probably_damaging(1)	4/46		Pfam_domain:PF00063;Prints_domain:PR00193;SMART_domains:SM00242;Superfamily_domains:SSF52540																	MODERATE		SNV	2			1											PASS	TGCTGCCGCTC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	127566691	127566691	C	T	1	0	0	0	0	1	0	0	0	10084	739	26	3		3	MYO7B	2	127566691	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		127566691	114626838	2	184											
THSD7B	80731	BI	GRCh38	chr2	137450895	137450895	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccatttgattgcaagttaAgcgattggtctagttggggg	14	6	1	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.3010A>C	p.Ser1004Arg	p.S1004R	ENST00000272643	14/27	45	39	6	63			THSD7B,missense_variant,p.S1004R,ENST00000409968,,c.3010A>C,MODERATE,,deleterious(0),probably_damaging(1),1;THSD7B,missense_variant,p.S1004R,ENST00000272643,,c.3010A>C,MODERATE,YES,deleterious(0),unknown(0),1;THSD7B,missense_variant,p.S973R,ENST00000413152,NM_001080427.1,c.2917A>C,MODERATE,,deleterious(0),probably_damaging(1),1	C	ENST00000272643	Transcript	missense_variant	missense_variant	3010/5939	3010/4827	1004/1608	S/R	Agc/Cgc		1		1	THSD7B	HGNC	HGNC:29348	protein_coding	YES		ENSP00000272643	Q9C0I4		UPI0004E4C87A		deleterious(0)	unknown(0)	14/27		Pfam_domain:PF00090;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1											PASS	AGTTAAGCGAT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	C	3	2	14	137450895	137450895	A	C	1	0	0	0	0	1	0	0	0	16314	72	3	5		5	THSD7B	2	137450895	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	9884204	137450895	104742634	3	185											
TRANK1	9881	BI	GRCh38	chr3	36851763	36851764	+	Frame_Shift_Ins	INS	-	-	TAAGCCTTTTGCTTCATAAATTG													aggaggacatcatcaaattcINStaagccttttgcttcataaa					novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.4688_4710dupCAATTTATGAAGCAAAAGGCTTA	p.Glu1571GlnfsTer8	p.E1571Qfs*8	ENST00000429976	14/23	18	16	2	15			TRANK1,frameshift_variant,p.E1571Qfs*8,ENST00000429976,NM_014831.2,c.4688_4710dupCAATTTATGAAGCAAAAGGCTTA,HIGH,YES,,,-1;TRANK1,upstream_gene_variant,,ENST00000463984,,,MODIFIER,,,,-1	TAAGCCTTTTGCTTCATAAATTG	ENST00000429976	Transcript	frameshift_variant	frameshift_variant	4958-4959/10481	4710-4711/8778	1570-1571/2925	-/QFMKQKAX	-/CAATTTATGAAGCAAAAGGCTTA		1		-1	TRANK1	HGNC	HGNC:29011	protein_coding	YES	CCDS46789.2	ENSP00000416168	O15050		UPI00017BE82B	NM_014831.2			14/23		Superfamily_domains:SSF52540																	HIGH	1	insertion	5			1											PASS	AAATTCTAAGC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			False	Unknown	TAAGCCTTTTGCTTCATAAATTG	7	5	14	36851763	36851763	-	TAAGCCTTTTGCTTCATAAATTG	1	0	1	1	0	0	0	0	0	16937	922	32	0		0	TRANK1	3	36851763	Frame_Shift_Ins	INS	-	TCGA-V4-A9EI-01A-11D-A39W-08		36851763	161443796	4	186											
BAP1	8314	BI	GRCh38	chr3	52402634	52402643	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-													gcatggagataaaggtgcagAtgaactcatcgtagttgtgg					novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.2015_2024delATGAGTTCAT	p.Asp672AlafsTer17	p.D672Afs*17	ENST00000460680	16/17	30	7	23	103			BAP1,frameshift_variant,p.D672Afs*17,ENST00000460680,NM_004656.3,c.2015_2024delATGAGTTCAT,HIGH,YES,,,-1;BAP1,frameshift_variant,p.D654Afs*17,ENST00000296288,,c.1961_1970delATGAGTTCAT,HIGH,,,,-1;BAP1,frameshift_variant,p.D72Afs*17,ENST00000469613,,c.214_223delATGAGTTCAT,HIGH,,,,-1;BAP1,frameshift_variant,p.D196Afs*17,ENST00000478368,,c.587_596delATGAGTTCAT,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,,n.688_697delATGAGTTCAT,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	2487-2496/3937	2015-2024/2190	672-675/729	DEFI/X	gATGAGTTCATc/gc		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			16/17																			HIGH	1	deletion	1			1											PASS	GTGCAGATGAACTCATCGTAG	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	-	7	5	14	52402634	52402634	ATGAACTCAT	-	1	0	1	0	1	0	0	0	0	1463	333	12	0		0	BAP1	3	52402634	Frame_Shift_Del	DEL	ATGAACTCAT	TCGA-V4-A9EI-01A-11D-A39W-08	15550871	52402634	145892925	5	187											
POLK	51426	BI	GRCh38	chr5	75596750	75596750	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actttgtgagaagcaagattAtgaagcccatccaaaaatta	7	7	0	3	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.2057A>C	p.Tyr686Ser	p.Y686S	ENST00000241436	13/15	24	17	7	39			POLK,missense_variant,p.Y686S,ENST00000241436,NM_016218.2,c.2057A>C,MODERATE,YES,tolerated(0.4),benign(0.001),1;POLK,missense_variant,p.Y488S,ENST00000508526,,c.1463A>C,MODERATE,,tolerated_low_confidence(0.17),unknown(0),1;POLK,intron_variant,,ENST00000504026,,c.1357-997A>C,MODIFIER,,,,1;CTC-366B18.2,downstream_gene_variant,,ENST00000511329,,,MODIFIER,YES,,,-1;POLK,non_coding_transcript_exon_variant,,ENST00000506928,,n.2180A>C,MODIFIER,,,,1;POLK,3_prime_UTR_variant,,ENST00000514141,,c.*676A>C,MODIFIER,,,,1;POLK,3_prime_UTR_variant,,ENST00000505975,,c.*1898A>C,MODIFIER,,,,1;POLK,3_prime_UTR_variant,,ENST00000510815,,c.*580A>C,MODIFIER,,,,1;POLK,3_prime_UTR_variant,,ENST00000503479,,c.*580A>C,MODIFIER,,,,1;POLK,3_prime_UTR_variant,,ENST00000509126,,c.*415A>C,MODIFIER,,,,1;POLK,intron_variant,,ENST00000511527,,c.*1198-997A>C,MODIFIER,,,,1;POLK,upstream_gene_variant,,ENST00000502567,,,MODIFIER,,,,1;POLK,upstream_gene_variant,,ENST00000505069,,,MODIFIER,,,,1	C	ENST00000241436	Transcript	missense_variant	missense_variant	2229/5911	2057/2613	686/870	Y/S	tAt/tCt		1		1	POLK	HGNC	HGNC:9183	protein_coding	YES	CCDS4030.1	ENSP00000241436	Q9UBT6	A0A024RAP4	UPI0000073EF6	NM_016218.2	tolerated(0.4)	benign(0.001)	13/15																			MODERATE	1	SNV	1			1											PASS	AGATTATGAAG	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	C	3	2	14	75596750	75596750	A	C	1	0	0	0	0	1	0	0	0	12314	449	16	5		5	POLK	5	75596750	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		75596750	105941509	6	188											
PCDHA9	9752	BI	GRCh38	chr5	140848533	140848533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatccagagggtcagcCtctactgctctcgcttctga	11	12	4	3	rs782015840		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.38C>T	p.Pro13Leu	p.P13L	ENST00000532602	1/4	58	4	54	74			PCDHA9,missense_variant,p.P13L,ENST00000378122,NM_014005.3,c.38C>T,MODERATE,,tolerated_low_confidence(0.5),benign(0),1;PCDHA9,missense_variant,p.P13L,ENST00000532602,NM_031857.1,c.38C>T,MODERATE,YES,tolerated_low_confidence(0.49),benign(0),1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3,c.2394+18048C>T,MODIFIER,YES,,,1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3,c.2394+59849C>T,MODIFIER,YES,,,1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2,c.2394+44942C>T,MODIFIER,YES,,,1;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2,c.2394+4818C>T,MODIFIER,YES,,,1;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2,c.2388+51181C>T,MODIFIER,YES,,,1;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3,c.2385+38961C>T,MODIFIER,YES,,,1;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2,c.2355+11795C>T,MODIFIER,YES,,,1;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2,c.2352+24406C>T,MODIFIER,YES,,,1;PCDHA4,intron_variant,,ENST00000512229,,c.2385+38961C>T,MODIFIER,,,,1;PCDHA5,intron_variant,,ENST00000529619,,c.2352+24406C>T,MODIFIER,,,,1;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2,c.1602+18840C>T,MODIFIER,,,,1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2,c.1602+60641C>T,MODIFIER,,,,1;PCDHA8,downstream_gene_variant,,ENST00000378123,NM_031856.1,,MODIFIER,,,,1;AC005609.19,downstream_gene_variant,,ENST00000623320,,,MODIFIER,YES,,,-1	T	ENST00000532602	Transcript	missense_variant	missense_variant	1071/6293	38/2853	13/950	P/L	cCt/cTt	rs782015840	1		1	PCDHA9	HGNC	HGNC:8675	protein_coding	YES	CCDS54920.1	ENSP00000436042	Q9Y5H5		UPI00001273D1	NM_031857.1	tolerated_low_confidence(0.49)	benign(0)	1/4		Cleavage_site_(Signalp):Sigp;PROSITE_profiles:PS50268																	MODERATE	1	SNV	1			1	8.286e-06	8.525e-06	0	0	0.0001161	0	0	0	0		PASS	TCAGCCTCTAC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	140848533	140848533	C	T	1	0	0	0	0	1	0	0	0	11618	681	24	3		3	PCDHA9	5	140848533	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	65251783	140848533	40689726	7	189											
SPDL1	54908	BI	GRCh38	chr5	169588522	169588522	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aactagtagagagtcaaaatGaattacagaatcaattggat	8	4	2	3	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.106G>A	p.Glu36Lys	p.E36K	ENST00000265295	2/12	37	20	17	33			SPDL1,missense_variant,p.E36K,ENST00000265295,NM_017785.4,c.106G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.972),1;SPDL1,missense_variant,p.E36K,ENST00000513941,,c.106G>A,MODERATE,,deleterious(0.03),probably_damaging(0.972),1;SPDL1,missense_variant,p.E36K,ENST00000506574,,c.106G>A,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.972),1;SPDL1,missense_variant,p.E36K,ENST00000513795,,c.106G>A,MODERATE,,deleterious(0.02),probably_damaging(0.972),1;SPDL1,missense_variant,p.E36K,ENST00000508247,,c.106G>A,MODERATE,,,,1;SPDL1,missense_variant,p.E36K,ENST00000515224,,c.106G>A,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.972),1;SPDL1,missense_variant,p.E36K,ENST00000629457,,c.106G>A,MODERATE,,deleterious_low_confidence(0.05),probably_damaging(0.953),1;SPDL1,upstream_gene_variant,,ENST00000505977,,,MODIFIER,,,,1;SPDL1,non_coding_transcript_exon_variant,,ENST00000510751,,n.263G>A,MODIFIER,,,,1;SPDL1,downstream_gene_variant,,ENST00000503209,,,MODIFIER,,,,1;SPDL1,missense_variant,p.E36K,ENST00000512028,,c.106G>A,MODERATE,,deleterious_low_confidence(0.05),probably_damaging(0.953),1;SPDL1,missense_variant,p.E36K,ENST00000509785,,c.106G>A,MODERATE,,deleterious_low_confidence(0.05),probably_damaging(0.953),1;SPDL1,non_coding_transcript_exon_variant,,ENST00000508837,,n.243G>A,MODIFIER,,,,1;SPDL1,intron_variant,,ENST00000507232,,c.74+32G>A,MODIFIER,,,,1;SPDL1,upstream_gene_variant,,ENST00000503871,,,MODIFIER,,,,1	A	ENST00000265295	Transcript	missense_variant	missense_variant	385/2668	106/1818	36/605	E/K	Gaa/Aaa		1		1	SPDL1	HGNC	HGNC:26010	protein_coding	YES	CCDS4370.1	ENSP00000265295	Q96EA4		UPI000013D5F0	NM_017785.4	deleterious(0.03)	probably_damaging(0.972)	2/12		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	AAAATGAATTA	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	A	3	1	14	169588522	169588522	G	A	1	0	0	0	0	1	0	0	0	15373	1291	45	3		3	SPDL1	5	169588522	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	28739989	169588522	11949737	8	190											
PLAC9	219348	BI	GRCh38	chr10	80144324	80144324	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggacccttcagcccCgctcccgaccttctcggagg	10	21	2	0	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.264C>T	p.=	p.P88P	ENST00000372263	3/4	17	7	10	13			PLAC9,synonymous_variant,p.P88P,ENST00000372263,NM_001012973.1,c.264C>T,LOW,YES,,,1;PLAC9,synonymous_variant,p.P46P,ENST00000372270,,c.138C>T,LOW,,,,1;PLAC9,intron_variant,,ENST00000372267,,c.163-576C>T,MODIFIER,,,,1;PLAC9,non_coding_transcript_exon_variant,,ENST00000465660,,n.277C>T,MODIFIER,,,,1	T	ENST00000372263	Transcript	synonymous_variant	synonymous_variant	306/785	264/294	88/97	P	ccC/ccT		1		1	PLAC9	HGNC	HGNC:19255	protein_coding	YES	CCDS31232.1	ENSP00000361337	Q5JTB6		UPI0000161743	NM_001012973.1			3/4																			LOW	1	SNV	1			1											panel_of_normals	AGCCCCGCTCC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26	gdc_pon		True	Unknown	T	2	4	14	80144324	80144324	C	T	1	0	0	0	0	0	0	0	1	12111	639	23	2		2	PLAC9	10	80144324	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		80144324	53653098	9	191											
DYNC2H1	79659	BI	GRCh38	chr11	103304682	103304682	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actggctctgtttgaagaacTtacatcttgtggtatcttgg	10	7	3	2	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.11344T>A	p.Leu3782Ile	p.L3782I	ENST00000375735	77/89	77	40	37	61			DYNC2H1,missense_variant,p.L3782I,ENST00000375735,NM_001377.2,c.11344T>A,MODERATE,,,probably_damaging(0.951),1;DYNC2H1,missense_variant,p.L3789I,ENST00000398093,NM_001080463.1,c.11365T>A,MODERATE,YES,,probably_damaging(0.919),1;DYNC2H1,intron_variant,,ENST00000334267,,c.2206-131261T>A,MODIFIER,,,,1;DYNC2H1,missense_variant,p.L175I,ENST00000528670,,c.523T>A,MODERATE,,deleterious(0.04),probably_damaging(0.919),1	A	ENST00000375735	Transcript	missense_variant	missense_variant	11488/13678	11344/12924	3782/4307	L/I	Tta/Ata		1		1	DYNC2H1	HGNC	HGNC:2962	protein_coding		CCDS53701.1	ENSP00000364887	Q8NCM8		UPI0000418CA2	NM_001377.2		probably_damaging(0.951)	77/89		Pfam_domain:PF03028																	MODERATE		SNV	1			1											PASS	AGAACTTACAT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	A	3	1	14	103304682	103304682	T	A	1	0	0	0	0	1	0	0	0	4670	1606	56	5		5	DYNC2H1	11	103304682	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		103304682	31781940	10	192											
NACA	4666	BI	GRCh38	chr12	56719423	56719423	+	Intron	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcaattttctgaagctgTaggaaccaagggtaaagtag	13	5	1	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.71-4736A>C			ENST00000356769		28	14	14	24			NACA,missense_variant,p.T703P,ENST00000454682,,c.2107A>C,MODERATE,,,benign(0.001),-1;NACA,intron_variant,,ENST00000550952,NM_001113203.2,c.1864+114A>C,MODIFIER,YES,,,-1;NACA,intron_variant,,ENST00000356769,NM_001113202.1,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000552540,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000393891,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000548563,,c.-183-4720A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000546392,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000550920,,c.64+114A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000549855,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000549259,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000552055,,c.71-4748A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000546862,,c.-183-4720A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551793,,n.112-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551775,,n.115-4736A>C,MODIFIER,,,,-1;NACA,upstream_gene_variant,,ENST00000550343,,,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000551520,,n.106-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000547914,,c.71-4736A>C,MODIFIER,,,,-1;NACA,intron_variant,,ENST00000548084,,c.71-4720A>C,MODIFIER,,,,-1	G	ENST00000356769	Transcript	intron_variant	intron_variant	-/2690	-/648	-/215				1		-1	NACA	HGNC	HGNC:7629	protein_coding		CCDS31837.1	ENSP00000349212	Q13765	A0A024RB41	UPI0000073EC7	NM_001113202.1				2/7																		MODIFIER		SNV	1			1											PASS	AGCTGTAGGAA	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	G	1	3	14	56719423	56719423	T	G	0	1	0	0	0	0	0	0	0	10139	1638	57	5		5	NACA	12	56719423	Intron	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		56719423	76555886	11	193											
UTP14C	9724	BI	GRCh38	chr13	52031010	52031010	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcccataaaagcagaggatGtgggctaccagtcttcctca	10	11	2	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.2206G>T	p.Val736Leu	p.V736L	ENST00000521776	2/2	113	62	51	97			UTP14C,missense_variant,p.V736L,ENST00000521776,NM_021645.5,c.2206G>T,MODERATE,YES,tolerated(0.24),benign(0.132),1;ALG11,downstream_gene_variant,,ENST00000521508,NM_001004127.2,,MODIFIER,YES,,,1;ALG11,downstream_gene_variant,,ENST00000523764,,,MODIFIER,,,,1;ALG11,downstream_gene_variant,,ENST00000519151,,,MODIFIER,,,,1;NEK5,downstream_gene_variant,,ENST00000529080,,,MODIFIER,,,,-1	T	ENST00000521776	Transcript	missense_variant	missense_variant	2939/5529	2206/2301	736/766	V/L	Gtg/Ttg		1		1	UTP14C	HGNC	HGNC:20321	protein_coding	YES	CCDS31978.1	ENSP00000428619	Q5TAP6	A0A024RDV0	UPI000006DB4B	NM_021645.5	tolerated(0.24)	benign(0.132)	2/2																			MODERATE	1	SNV	1			1											PASS	AGGATGTGGGC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	52031010	52031010	G	T	1	0	0	0	0	1	0	0	0	17639	1377	48	5		5	UTP14C	13	52031010	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		52031010	62333318	12	194											
PCCA	5095	BI	GRCh38	chr13	100368568	100368568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaaacaatgggtcagtGttctcggtgagttttctttc	10	8	4	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.1740G>A	p.=	p.V580V	ENST00000376285	19/24	88	48	40	44			PCCA,synonymous_variant,p.V580V,ENST00000376285,NM_000282.3,c.1740G>A,LOW,YES,,,1;PCCA,synonymous_variant,p.V554V,ENST00000376286,NM_001127692.2,c.1662G>A,LOW,,,,1;PCCA,synonymous_variant,p.V580V,ENST00000376279,NM_001178004.1,c.1740G>A,LOW,,,,1;PCCA,synonymous_variant,p.V33V,ENST00000458283,,c.97G>A,LOW,,,,1;PCCA,synonymous_variant,p.V114V,ENST00000424527,,c.342G>A,LOW,,,,1;PCCA,synonymous_variant,p.V24V,ENST00000413170,,c.70G>A,LOW,,,,1	A	ENST00000376285	Transcript	synonymous_variant	synonymous_variant	1778/2494	1740/2187	580/728	V	gtG/gtA		1		1	PCCA	HGNC	HGNC:8653	protein_coding	YES	CCDS9496.2	ENSP00000365462	P05165		UPI0000070089	NM_000282.3			19/24																			LOW	1	SNV	1			1											PASS	TCAGTGTTCTC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	A	2	1	14	100368568	100368568	G	A	1	0	0	0	0	0	0	0	1	11591	1364	48	3		3	PCCA	13	100368568	Silent	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08	48337558	100368568	13995760	13	195											
OR4K1	79544	BI	GRCh38	chr14	19936222	19936222	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgaccttcccttggtgataGagctggcttgcatggataca	12	9	0	3			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.556G>A	p.Glu186Lys	p.E186K	ENST00000285600	1/1	96	48	48	133			OR4K1,missense_variant,p.E186K,ENST00000285600,NM_001004063.2,c.556G>A,MODERATE,YES,tolerated(1),benign(0.006),1	A	ENST00000285600	Transcript	missense_variant	missense_variant	615/1076	556/936	186/311	E/K	Gag/Aag		1		1	OR4K1	HGNC	HGNC:14726	protein_coding	YES	CCDS32025.1	ENSP00000285600	Q8NGD4		UPI0000041B4A	NM_001004063.2	tolerated(1)	benign(0.006)	1/1		Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR00245;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TGATAGAGCTG	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26		COSM3494494	True	Unknown	A	3	1	14	19936222	19936222	G	A	1	0	0	0	0	1	0	0	0	11144	943	33	3		3	OR4K1	14	19936222	Missense_Mutation	SNP	G	TCGA-V4-A9EI-01A-11D-A39W-08		19936222	87107496	14	196											
NIN	51199	BI	GRCh38	chr14	50776960	50776960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcttacctctccatccaCattctgtaaaccatactgct	5	14	2	0	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.655G>A	p.Val219Met	p.V219M	ENST00000382041	7/30	124	75	49	98			NIN,missense_variant,p.V219M,ENST00000245441,NM_020921.3,c.655G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.906),-1;NIN,missense_variant,p.V219M,ENST00000530997,,c.655G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.906),-1;NIN,missense_variant,p.V219M,ENST00000453196,NM_182944.2,c.655G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.498),-1;NIN,missense_variant,p.V219M,ENST00000382041,NM_182946.1,c.655G>A,MODERATE,YES,deleterious(0.01),benign(0.307),-1;NIN,missense_variant,p.V219M,ENST00000324330,NM_016350.4,c.655G>A,MODERATE,,deleterious(0.01),benign(0.426),-1;NIN,missense_variant,p.V219M,ENST00000382043,,c.655G>A,MODERATE,,deleterious(0.01),benign(0.426),-1;NIN,missense_variant,p.V181M,ENST00000453401,,c.541G>A,MODERATE,,deleterious(0.02),benign(0.307),-1;NIN,missense_variant,p.V219M,ENST00000476352,,c.655G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.523),-1;NIN,upstream_gene_variant,,ENST00000474937,,,MODIFIER,,,,-1	T	ENST00000382041	Transcript	missense_variant	missense_variant	846/6496	655/6273	219/2090	V/M	Gtg/Atg		1		-1	NIN	HGNC	HGNC:14906	protein_coding	YES	CCDS32079.1	ENSP00000371472	Q8N4C6		UPI0000DBEF14	NM_182946.1	deleterious(0.01)	benign(0.307)	7/30		Superfamily_domains:SSF47473;Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1											PASS	ATCCACATTCT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	50776960	50776960	C	T	1	0	0	0	0	1	0	0	0	10452	478	17	3		3	NIN	14	50776960	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	30840738	50776960	56266758	15	197											
BTBD7	55727	BI	GRCh38	chr14	93294290	93294290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gacgacatcataataacacaTgtaatcaaagagtccacgca	6	10	2	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.730A>C	p.Met244Leu	p.M244L	ENST00000334746	3/11	91	53	38	78			BTBD7,missense_variant,p.M244L,ENST00000334746,NM_001002860.3,c.730A>C,MODERATE,YES,tolerated(0.32),possibly_damaging(0.517),-1;BTBD7,missense_variant,p.M244L,ENST00000298896,NM_018167.4,c.730A>C,MODERATE,,tolerated(0.09),benign(0.017),-1;BTBD7,missense_variant,p.M244L,ENST00000555525,,c.730A>C,MODERATE,,tolerated(0.25),benign(0.162),-1;BTBD7,intron_variant,,ENST00000554565,NM_001289133.1,c.110-30297A>C,MODIFIER,,,,-1;BTBD7,upstream_gene_variant,,ENST00000553975,,,MODIFIER,,,,-1;BTBD7,downstream_gene_variant,,ENST00000554968,,,MODIFIER,,,,-1;BTBD7,non_coding_transcript_exon_variant,,ENST00000554644,,n.328A>C,MODIFIER,,,,-1;BTBD7,upstream_gene_variant,,ENST00000355125,,,MODIFIER,,,,-1	G	ENST00000334746	Transcript	missense_variant	missense_variant	1038/8430	730/3399	244/1132	M/L	Atg/Ctg		1		-1	BTBD7	HGNC	HGNC:18269	protein_coding	YES	CCDS32146.1	ENSP00000335615	Q9P203		UPI00001FDA78	NM_001002860.3	tolerated(0.32)	possibly_damaging(0.517)	3/11		SMART_domains:SM00225																	MODERATE	1	SNV	1			1											PASS	ACACATGTAAT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	G	3	3	14	93294290	93294290	T	G	1	0	0	0	0	1	0	0	0	1722	1464	51	5		5	BTBD7	14	93294290	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08	42517330	93294290	13749428	16	198											
DYNC1H1	1778	BI	GRCh38	chr14	102032287	102032287	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgtgaagtcgatcaAgaagcagcacctggtggagg	14	9	2	2	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.9899A>G	p.Lys3300Arg	p.K3300R	ENST00000360184	52/78	336	244	92	329			DYNC1H1,missense_variant,p.K3300R,ENST00000360184,NM_001376.4,c.9899A>G,MODERATE,YES,,benign(0.102),1;DYNC1H1,upstream_gene_variant,,ENST00000553423,,,MODIFIER,,,,1;RP11-1017G21.4,downstream_gene_variant,,ENST00000557551,,,MODIFIER,YES,,,-1;RP11-1017G21.4,downstream_gene_variant,,ENST00000557242,,,MODIFIER,,,,-1;RP11-1017G21.4,downstream_gene_variant,,ENST00000553701,,,MODIFIER,,,,-1;DYNC1H1,upstream_gene_variant,,ENST00000556791,,,MODIFIER,,,,1;DYNC1H1,downstream_gene_variant,,ENST00000555204,,,MODIFIER,,,,1;DYNC1H1,downstream_gene_variant,,ENST00000554854,,,MODIFIER,,,,1	G	ENST00000360184	Transcript	missense_variant	missense_variant	10063/14333	9899/13941	3300/4646	K/R	aAg/aGg		1		1	DYNC1H1	HGNC	HGNC:2961	protein_coding	YES	CCDS9966.1	ENSP00000348965	Q14204		UPI00001B515A	NM_001376.4		benign(0.102)	52/78																			MODERATE	1	SNV	1			1											PASS	GATCAAGAAGC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	G	3	3	14	102032287	102032287	A	G	1	0	0	0	0	1	0	0	0	4665	72	3	4		4	DYNC1H1	14	102032287	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	8737997	102032287	5011431	17	199											
PDXDC1	23042	BI	GRCh38	chr16	15008840	15008840	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtttggatcccagcAtcagatggtgagttctactt	10	9	2	2	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.641A>T	p.His214Leu	p.H214L	ENST00000396410	7/23	220	188	32	192			PDXDC1,missense_variant,p.H214L,ENST00000396410,NM_015027.3,c.641A>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.992),1;PDXDC1,missense_variant,p.H123L,ENST00000450288,NM_001285448.1,c.368A>T,MODERATE,,deleterious(0.03),possibly_damaging(0.815),1;PDXDC1,missense_variant,p.H187L,ENST00000569715,NM_001285444.1,c.560A>T,MODERATE,,deleterious(0.05),possibly_damaging(0.794),1;PDXDC1,missense_variant,p.H232L,ENST00000563679,NM_001285447.1,c.695A>T,MODERATE,,deleterious(0.03),probably_damaging(0.986),1;PDXDC1,missense_variant,p.H186L,ENST00000627450,NM_001285445.1,c.557A>T,MODERATE,,deleterious(0.05),possibly_damaging(0.869),1;PDXDC1,missense_variant,p.H214L,ENST00000535621,NM_001285449.1,c.641A>T,MODERATE,,deleterious(0.04),possibly_damaging(0.815),1;PDXDC1,missense_variant,p.H214L,ENST00000325823,,c.641A>T,MODERATE,,deleterious(0.04),possibly_damaging(0.563),1;PDXDC1,intron_variant,,ENST00000455313,NM_001285450.1,c.580-841A>T,MODIFIER,,,,1;PDXDC1,intron_variant,,ENST00000567306,,c.535-841A>T,MODIFIER,,,,1;PDXDC1,downstream_gene_variant,,ENST00000563522,,,MODIFIER,,,,1;PDXDC1,downstream_gene_variant,,ENST00000563667,,,MODIFIER,,,,1;MIR1972-1,downstream_gene_variant,,ENST00000459337,,,MODIFIER,YES,,,-1;PDXDC1,3_prime_UTR_variant,,ENST00000565362,,c.*426A>T,MODIFIER,,,,1;PDXDC1,non_coding_transcript_exon_variant,,ENST00000570001,,n.736A>T,MODIFIER,,,,1;PDXDC1,intron_variant,,ENST00000562119,,c.174+7052A>T,MODIFIER,,,,1;PDXDC1,upstream_gene_variant,,ENST00000561930,,,MODIFIER,,,,1	T	ENST00000396410	Transcript	missense_variant	missense_variant	738/4521	641/2367	214/788	H/L	cAt/cTt		1		1	PDXDC1	HGNC	HGNC:28995	protein_coding	YES	CCDS32393.1	ENSP00000379691	Q6P996		UPI000004A864	NM_015027.3	deleterious(0.04)	probably_damaging(0.992)	7/23		Pfam_domain:PF00282;Superfamily_domains:SSF53383																	MODERATE	1	SNV	1			1											PASS	CCAGCATCAGA	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	15008840	15008840	A	T	1	0	0	0	0	1	0	0	0	11784	217	8	5		5	PDXDC1	16	15008840	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08		15008840	75329505	18	200											
PRSS54	221191	BI	GRCh38	chr16	58280326	58280326	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcctaccttcccccacCtccccaccgtaatagtcata	2	18	1	0	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.1086G>T	p.Glu362Asp	p.E362D	ENST00000219301	7/7	48	45	3	73			PRSS54,missense_variant,p.E362D,ENST00000219301,NM_001080492.1&NM_001305173.1,c.1086G>T,MODERATE,YES,tolerated(0.11),benign(0.043),-1;PRSS54,missense_variant,p.E362D,ENST00000567164,,c.1086G>T,MODERATE,,tolerated(0.11),benign(0.043),-1;PRSS54,missense_variant,p.E263D,ENST00000543437,NM_001305174.1,c.789G>T,MODERATE,,tolerated(0.12),benign(0.043),-1;CCDC113,3_prime_UTR_variant,,ENST00000219299,NM_014157.3,c.*549C>A,MODIFIER,YES,,,1;CCDC113,3_prime_UTR_variant,,ENST00000443128,NM_001142302.1,c.*549C>A,MODIFIER,,,,1;PRSS54,downstream_gene_variant,,ENST00000569079,,,MODIFIER,,,,-1;PRSS54,downstream_gene_variant,,ENST00000569727,,,MODIFIER,,,,-1;PRSS54,downstream_gene_variant,,ENST00000563336,,,MODIFIER,,,,-1	A	ENST00000219301	Transcript	missense_variant	missense_variant	1481/1810	1086/1188	362/395	E/D	gaG/gaT		1		-1	PRSS54	HGNC	HGNC:26336	protein_coding	YES	CCDS32463.1	ENSP00000219301	Q6PEW0		UPI0000199F24	NM_001080492.1;NM_001305173.1	tolerated(0.11)	benign(0.043)	7/7		Low_complexity_(Seg):Seg																	MODERATE		SNV	5			1											PASS	CCCACCTCCCC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			False	Unknown	A	3	1	14	58280326	58280326	C	A	1	0	0	0	0	1	0	0	0	12782	680	24	5		5	PRSS54	16	58280326	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	43271486	58280326	32058019	19	201											
PER1	5187	BI	GRCh38	chr17	8141187	8141187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccgccttgggcctcctCgcagccctctccctcaccac	8	23	2	0	rs535590026	by1000G	TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.3754G>A	p.Glu1252Lys	p.E1252K	ENST00000317276	23/23	81	12	69	207			PER1,missense_variant,p.E1252K,ENST00000317276,NM_002616.2,c.3754G>A,MODERATE,YES,tolerated_low_confidence(0.76),benign(0.048),-1;PER1,missense_variant,p.E1229K,ENST00000581082,,c.3685G>A,MODERATE,,tolerated_low_confidence(0.81),benign(0.016),-1;PER1,downstream_gene_variant,,ENST00000354903,,,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000583559,,,MODIFIER,,,,-1;MIR6883,downstream_gene_variant,,ENST00000614952,,,MODIFIER,YES,,,-1;PER1,downstream_gene_variant,,ENST00000578089,,,MODIFIER,,,,-1;PER1,3_prime_UTR_variant,,ENST00000582719,,c.*668G>A,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000581395,,,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000578950,,,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000583677,,,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000585284,,,MODIFIER,,,,-1;PER1,downstream_gene_variant,,ENST00000579098,,,MODIFIER,,,,-1	T	ENST00000317276	Transcript	missense_variant	missense_variant	3992/4707	3754/3873	1252/1290	E/K	Gag/Aag	rs535590026	1		-1	PER1	HGNC	HGNC:8845	protein_coding	YES	CCDS11131.1	ENSP00000314420	O15534		UPI000013FFF5	NM_002616.2	tolerated_low_confidence(0.76)	benign(0.048)	23/23		Low_complexity_(Seg):Seg	2e-04	8e-04	0		0	0	0										MODERATE	1	SNV	1			1	3.295e-05	3.3e-05	0.0002896	0	0	0	1.501e-05	0	0		PASS	CTCCTCGCAGC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	8141187	8141187	C	T	1	0	0	0	0	1	0	0	0	11817	893	31	2		2	PER1	17	8141187	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		8141187	75116254	20	202											
MC2R	4158	BI	GRCh38	chr18	13885230	13885230	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcggctgtggtttcaaaacTgccacgtggcttgagatagc	12	9	1	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.289A>T	p.Ser97Cys	p.S97C	ENST00000327606	2/2	94	46	48	99			MC2R,missense_variant,p.S97C,ENST00000327606,NM_000529.2&NM_001291911.1,c.289A>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.482),-1;MC2R,missense_variant,p.S97C,ENST00000399821,,c.289A>T,MODERATE,,tolerated(0.06),possibly_damaging(0.482),-1	A	ENST00000327606	Transcript	missense_variant	missense_variant	470/3656	289/894	97/297	S/C	Agt/Tgt		1		-1	MC2R	HGNC	HGNC:6930	protein_coding	YES	CCDS11869.1	ENSP00000333821	Q01718		UPI00000503E5	NM_000529.2;NM_001291911.1	deleterious(0.02)	possibly_damaging(0.482)	2/2		Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10328;Prints_domain:PR00520;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	AAAACTGCCAC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	A	3	1	14	13885230	13885230	T	A	1	0	0	0	0	1	0	0	0	9297	1580	55	5		5	MC2R	18	13885230	Missense_Mutation	SNP	T	TCGA-V4-A9EI-01A-11D-A39W-08		13885230	66488055	21	203											
SBNO2	22904	BI	GRCh38	chr19	1119014	1119014	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgcgcaggctcaccagCagggccgcgcggttgtagac	17	13	1	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.1524G>A	p.=	p.L508L	ENST00000361757	14/32	11	7	4	18			SBNO2,synonymous_variant,p.L508L,ENST00000361757,NM_014963.2,c.1524G>A,LOW,YES,,,-1;SBNO2,synonymous_variant,p.L508L,ENST00000587024,,c.1524G>A,LOW,,,,-1;SBNO2,synonymous_variant,p.L451L,ENST00000438103,NM_001100122.1,c.1353G>A,LOW,,,,-1;SBNO2,non_coding_transcript_exon_variant,,ENST00000592222,,n.1377G>A,MODIFIER,,,,-1;SBNO2,non_coding_transcript_exon_variant,,ENST00000590446,,n.480G>A,MODIFIER,,,,-1	T	ENST00000361757	Transcript	synonymous_variant	synonymous_variant	1762/4923	1524/4101	508/1366	L	ctG/ctA		1		-1	SBNO2	HGNC	HGNC:29158	protein_coding	YES	CCDS45894.1	ENSP00000354733	Q9Y2G9		UPI0000140680	NM_014963.2			14/32																			LOW	1	SNV	1			1											PASS	ACCAGCAGGGC	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	2	4	14	1119014	1119014	C	T	1	0	0	0	0	0	0	0	1	14128	724	25	3		3	SBNO2	19	1119014	Silent	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08		1119014	57498602	22	204											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	51	33	18	86			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26		COSM52969	True	Unknown	T	3	4	14	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EI-01A-11D-A39W-08	1999930	3118944	55498672	23	205											
ZNF20	7568	BI	GRCh38	chr19	12133374	12133374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagaccttttatgtctaCgaatttcactaggaaaactg	8	7	2	1	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.812G>A	p.Arg271His	p.R271H	ENST00000334213	4/4	56	36	20	67			ZNF20,missense_variant,p.R271H,ENST00000334213,NM_001203250.1&NM_021143.3,c.812G>A,MODERATE,YES,tolerated(0.12),benign(0.041),-1;ZNF20,intron_variant,,ENST00000600335,,c.191+2126G>A,MODIFIER,,,,-1;ZNF20,downstream_gene_variant,,ENST00000418866,,,MODIFIER,,,,-1;ZNF788,intron_variant,,ENST00000601686,,n.165-2401C>T,MODIFIER,,,,1;ZNF20,intron_variant,,ENST00000480770,,n.221+2126G>A,MODIFIER,,,,-1;ZNF20,downstream_gene_variant,,ENST00000485451,,,MODIFIER,,,,-1;ZNF20,downstream_gene_variant,,ENST00000480477,,,MODIFIER,,,,-1;ZNF625-ZNF20,3_prime_UTR_variant,,ENST00000430024,,c.*843G>A,MODIFIER,YES,,,-1;ZNF20,downstream_gene_variant,,ENST00000454949,,,MODIFIER,,,,-1;ZNF20,downstream_gene_variant,,ENST00000478942,,,MODIFIER,,,,-1	T	ENST00000334213	Transcript	missense_variant	missense_variant	1037/3061	812/1599	271/532	R/H	cGt/cAt		1		-1	ZNF20	HGNC	HGNC:12992	protein_coding	YES	CCDS45986.1	ENSP00000335437	P17024			NM_001203250.1;NM_021143.3	tolerated(0.12)	benign(0.041)	4/4		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	GTCTACGAATT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	12133374	12133374	C	T	1	0	0	0	0	1	0	0	0	18338	536	19	1		1	ZNF20	19	12133374	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	9014430	12133374	46484242	24	206											
ANKRD27	84079	BI	GRCh38	chr19	32646464	32646464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcccagaatacctgaaCtctctctcttttccaaagga	4	13	3	2	novel		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	c.365G>A	p.Ser122Asn	p.S122N	ENST00000306065	4/29	95	71	24	114			ANKRD27,missense_variant,p.S122N,ENST00000306065,NM_032139.2,c.365G>A,MODERATE,YES,tolerated(0.32),benign(0.213),-1;ANKRD27,missense_variant,p.S122N,ENST00000587352,,c.365G>A,MODERATE,,tolerated(0.3),benign(0.007),-1;ANKRD27,missense_variant,p.S122N,ENST00000622502,,c.365G>A,MODERATE,,tolerated(0.23),benign(0.008),-1;ANKRD27,missense_variant,p.S122N,ENST00000586693,,c.365G>A,MODERATE,,tolerated(0.22),benign(0.008),-1;ANKRD27,5_prime_UTR_variant,,ENST00000586463,,c.-272G>A,MODIFIER,,,,-1;ANKRD27,downstream_gene_variant,,ENST00000590519,,,MODIFIER,,,,-1;ANKRD27,upstream_gene_variant,,ENST00000591100,,,MODIFIER,,,,-1;ANKRD27,intron_variant,,ENST00000588700,,c.214-1985G>A,MODIFIER,,,,-1;ANKRD27,upstream_gene_variant,,ENST00000593232,,,MODIFIER,,,,-1	T	ENST00000306065	Transcript	missense_variant	missense_variant	524/4450	365/3153	122/1050	S/N	aGt/aAt		1		-1	ANKRD27	HGNC	HGNC:25310	protein_coding	YES	CCDS32986.1	ENSP00000304292	Q96NW4		UPI000004FDE9	NM_032139.2	tolerated(0.32)	benign(0.213)	4/29																			MODERATE	1	SNV	1			1											PASS	CTGAACTCTCT	72fed869-13a8-4c53-9275-138576e59585	f8e1e0e9-ef30-4cd6-81aa-c29626a51e3c	ce4fe8e9-a7ff-4948-ae66-10a6f130d4f3	b533e555-90cf-4657-80c6-15b67da8ad26			True	Unknown	T	3	4	14	32646464	32646464	C	T	1	0	0	0	0	1	0	0	0	758	579	20	3		3	ANKRD27	19	32646464	Missense_Mutation	SNP	C	TCGA-V4-A9EI-01A-11D-A39W-08	20513090	32646464	25971152	25	207											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	44	26	18	48			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd		COSM255276	True	Unknown	T	3	4	15	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		197402759	44790770	1	208											
SEL1L3	23231	BI	GRCh38	chr4	25835273	25835273	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggaacttcttgacaatgcCtgtgttttctccactggagg	11	10	2	1	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.784G>A	p.Gly262Ser	p.G262S	ENST00000399878	3/24	77	45	32	74			SEL1L3,missense_variant,p.G262S,ENST00000399878,NM_015187.3,c.784G>A,MODERATE,YES,deleterious(0.01),probably_damaging(1),-1;SEL1L3,missense_variant,p.G227S,ENST00000264868,NM_001297594.1&NM_001297592.1,c.679G>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;SEL1L3,missense_variant,p.G109S,ENST00000502949,,c.325G>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;SEL1L3,non_coding_transcript_exon_variant,,ENST00000513364,,n.365G>A,MODIFIER,,,,-1	T	ENST00000399878	Transcript	missense_variant	missense_variant	907/4520	784/3399	262/1132	G/S	Ggc/Agc		1		-1	SEL1L3	HGNC	HGNC:29108	protein_coding	YES	CCDS47037.1	ENSP00000382767	Q68CR1		UPI00001D7736	NM_015187.3	deleterious(0.01)	probably_damaging(1)	3/24		Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1											PASS	AATGCCTGTGT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	3	4	15	25835273	25835273	C	T	1	0	0	0	0	1	0	0	0	14289	681	24	3		3	SEL1L3	4	25835273	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		25835273	164379282	2	209											
PDE8B	8622	BI	GRCh38	chr5	77312031	77312031	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcgcatcgggcccatgaGactgacgcaggaccctattc	13	13	0	2	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.377G>A	p.Arg126Lys	p.R126K	ENST00000264917	2/22	79	44	35	101			PDE8B,missense_variant,p.R126K,ENST00000264917,NM_003719.3,c.377G>A,MODERATE,YES,tolerated(0.37),benign(0.338),1;PDE8B,missense_variant,p.R126K,ENST00000340978,NM_001029854.2,c.377G>A,MODERATE,,tolerated(0.38),benign(0.168),1;PDE8B,missense_variant,p.R126K,ENST00000346042,NM_001029851.2,c.377G>A,MODERATE,,tolerated(0.41),benign(0.173),1;PDE8B,missense_variant,p.R126K,ENST00000333194,NM_001029852.2,c.377G>A,MODERATE,,tolerated(0.28),benign(0.016),1;PDE8B,missense_variant,p.R2K,ENST00000505926,,c.5G>A,MODERATE,,tolerated(0.35),benign(0.156),1;PDE8B,missense_variant,p.R2K,ENST00000502945,,c.5G>A,MODERATE,,tolerated(0.36),benign(0.338),1;PDE8B,intron_variant,,ENST00000342343,NM_001029853.2,c.340-13508G>A,MODIFIER,,,,1	A	ENST00000264917	Transcript	missense_variant	missense_variant	422/5956	377/2658	126/885	R/K	aGa/aAa		1		1	PDE8B	HGNC	HGNC:8794	protein_coding	YES	CCDS4037.1	ENSP00000264917	O95263		UPI0000001BBE	NM_003719.3	tolerated(0.37)	benign(0.338)	2/22																			MODERATE	1	SNV	1			1											PASS	CATGAGACTGA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	A	3	1	15	77312031	77312031	G	A	1	0	0	0	0	1	0	0	0	11742	942	33	3		3	PDE8B	5	77312031	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		77312031	104226228	3	210											
RASGRF2	5924	BI	GRCh38	chr5	81112636	81112636	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtcttcataaagacgAcactgacatttgcttcagta	7	11	3	2	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1865A>G	p.Asp622Gly	p.D622G	ENST00000265080	14/27	92	51	41	100			RASGRF2,missense_variant,p.D622G,ENST00000265080,NM_006909.2,c.1865A>G,MODERATE,YES,deleterious(0.01),benign(0.297),1;CTD-2193P3.2,downstream_gene_variant,,ENST00000508993,,,MODIFIER,YES,,,-1;RASGRF2,missense_variant,p.D622G,ENST00000503795,,c.1865A>G,MODERATE,,deleterious(0.01),benign(0.052),1	G	ENST00000265080	Transcript	missense_variant	missense_variant	1932/8167	1865/3714	622/1237	D/G	gAc/gGc		1		1	RASGRF2	HGNC	HGNC:9876	protein_coding	YES	CCDS4052.1	ENSP00000265080	O14827		UPI0000047ABF	NM_006909.2	deleterious(0.01)	benign(0.297)	14/27		Superfamily_domains:SSF48366																	MODERATE	1	SNV	1			1											PASS	AGACGACACTG	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	G	3	3	15	81112636	81112636	A	G	1	0	0	0	0	1	0	0	0	13234	275	10	4		4	RASGRF2	5	81112636	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	3800605	81112636	100425623	4	211											
CSGALNACT1	55790	BI	GRCh38	chr8	19505306	19505306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttccaccaactcatcccGcttgtccttcctcacaggct	6	18	2	0	rs753894137	byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.529C>T	p.Arg177Trp	p.R177W	ENST00000332246	4/10	46	36	10	47			CSGALNACT1,missense_variant,p.R177W,ENST00000454498,NM_001130518.1,c.529C>T,MODERATE,YES,deleterious(0),probably_damaging(0.982),-1;CSGALNACT1,missense_variant,p.R177W,ENST00000332246,NM_018371.4,c.529C>T,MODERATE,,deleterious(0),probably_damaging(0.982),-1;CSGALNACT1,missense_variant,p.R177W,ENST00000522854,,c.529C>T,MODERATE,,deleterious(0),probably_damaging(0.982),-1;CSGALNACT1,downstream_gene_variant,,ENST00000523262,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000517494,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000520003,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000524213,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000523227,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000517651,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000522573,,,MODIFIER,,,,-1;CSGALNACT1,downstream_gene_variant,,ENST00000522732,,,MODIFIER,,,,-1;CSGALNACT1,missense_variant,p.R177W,ENST00000397998,,c.529C>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;CSGALNACT1,missense_variant,p.R177W,ENST00000519222,,c.529C>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1	A	ENST00000332246	Transcript	missense_variant	missense_variant	1183/3872	529/1599	177/532	R/W	Cgg/Tgg	rs753894137	1		-1	CSGALNACT1	HGNC	HGNC:24290	protein_coding		CCDS6010.1	ENSP00000330805	Q8TDX6		UPI000013F19F	NM_018371.4	deleterious(0)	probably_damaging(0.982)	4/10		Pfam_domain:PF05679																	MODERATE		SNV	1			1	8.236e-06	8.241e-06	0	0	0	0	1.499e-05	0	0		PASS	ATCCCGCTTGT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	A	3	1	15	19505306	19505306	G	A	1	0	0	0	0	1	0	0	0	3739	1086	38	2		2	CSGALNACT1	8	19505306	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		19505306	125633330	5	212											
PKHD1L1	93035	BI	GRCh38	chr8	109400234	109400234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaagacacatttgttgcaCgctttagtggatttttggtg	10	6	0	1	rs751058194	byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1171C>T	p.Arg391Cys	p.R391C	ENST00000378402	13/78	304	241	63	256			PKHD1L1,missense_variant,p.R391C,ENST00000378402,NM_177531.4,c.1171C>T,MODERATE,YES,deleterious(0),probably_damaging(0.991),1	T	ENST00000378402	Transcript	missense_variant	missense_variant	1275/13076	1171/12732	391/4243	R/C	Cgc/Tgc	rs751058194	1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	deleterious(0)	probably_damaging(0.991)	13/78		Pfam_domain:PF07691;SMART_domains:SM00758;Superfamily_domains:SSF56988																	MODERATE	1	SNV	1			1	9.932e-05	9.937e-05	0	8.639e-05	0.0001159	0	0	0	0.0006056		PASS	TTGCACGCTTT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd	common_in_exac		True	Unknown	T	3	4	15	109400234	109400234	C	T	1	0	0	0	0	1	0	0	0	12068	536	19	1		1	PKHD1L1	8	109400234	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	89894928	109400234	35738402	6	213											
PIP4K2A	5305	BI	GRCh38	chr10	22609645	22609645	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggtgattgtccacctTtatttttgaataggctttga	8	5	0	3	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.217A>C	p.Lys73Gln	p.K73Q	ENST00000376573	2/10	68	32	36	61			PIP4K2A,missense_variant,p.K73Q,ENST00000376573,NM_005028.4,c.217A>C,MODERATE,YES,deleterious(0.04),possibly_damaging(0.694),-1;PIP4K2A,missense_variant,p.K14Q,ENST00000545335,,c.40A>C,MODERATE,,deleterious(0.04),possibly_damaging(0.694),-1;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000422321,,n.73A>C,MODIFIER,,,,-1;PIP4K2A,non_coding_transcript_exon_variant,,ENST00000432610,,n.73A>C,MODIFIER,,,,-1	G	ENST00000376573	Transcript	missense_variant	missense_variant	446/3802	217/1221	73/406	K/Q	Aag/Cag		1		-1	PIP4K2A	HGNC	HGNC:8997	protein_coding	YES	CCDS7141.1	ENSP00000365757	P48426		UPI0000001052	NM_005028.4	deleterious(0.04)	possibly_damaging(0.694)	2/10		SMART_domains:SM00330;Superfamily_domains:SSF56104																	MODERATE	1	SNV	1			1											PASS	CACCTTTATTT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	G	3	3	15	22609645	22609645	T	G	1	0	0	0	0	1	0	0	0	12031	1850	64	5		5	PIP4K2A	10	22609645	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		22609645	111187777	7	214											
TRPM5	29850	BI	GRCh38	chr11	2422315	2422315	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccactccgctcggcacccGtacaaactgcaaggcaggtc	11	16	0	0	rs370751309	byCluster;byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.124C>T	p.Arg42Trp	p.R42W	ENST00000155858	2/24	39	36	3	47			TRPM5,missense_variant,p.R42W,ENST00000155858,NM_014555.3,c.124C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.889),-1;TRPM5,missense_variant,p.R34W,ENST00000533881,,c.100C>T,MODERATE,,deleterious(0),probably_damaging(0.914),-1;TRPM5,missense_variant,p.R42W,ENST00000533060,,c.124C>T,MODERATE,,deleterious(0),probably_damaging(0.914),-1;TRPM5,missense_variant,p.R42W,ENST00000528453,,c.124C>T,MODERATE,,deleterious(0),probably_damaging(0.914),-1	A	ENST00000155858	Transcript	missense_variant	missense_variant	133/3929	124/3498	42/1165	R/W	Cgg/Tgg	rs370751309	1		-1	TRPM5	HGNC	HGNC:14323	protein_coding	YES	CCDS31340.1	ENSP00000155858	Q9NZQ8		UPI000003B069	NM_014555.3	deleterious(0)	possibly_damaging(0.889)	2/24										2e-04	0								MODERATE	1	SNV	1			1	3.301e-05	3.461e-05	0.0003064	0	0	0	0	0	6.684e-05		PASS	CACCCGTACAA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	A	3	1	15	2422315	2422315	G	A	1	0	0	0	0	1	0	0	0	17095	1144	40	1		1	TRPM5	11	2422315	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		2422315	132664307	8	215											
TKFC	26007	BI	GRCh38	chr11	61343345	61343345	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactctggtattgcagaggGccgcggggtgaagattgccc	15	10	1	3	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.869G>A	p.Gly290Asp	p.G290D	ENST00000394900	11/18	113	60	53	118			DAK,missense_variant,p.G290D,ENST00000394900,NM_015533.3,c.869G>A,MODERATE,YES,tolerated(0.53),benign(0.008),1;DAK,missense_variant,p.G291D,ENST00000617083,,c.872G>A,MODERATE,,tolerated(0.53),benign(0.003),1;DAK,missense_variant,p.G289D,ENST00000529479,,c.866G>A,MODERATE,,tolerated(0.5),benign(0.008),1;DAK,upstream_gene_variant,,ENST00000534084,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000532173,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000533393,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000530456,,,MODIFIER,,,,1;DAK,non_coding_transcript_exon_variant,,ENST00000534370,,n.136G>A,MODIFIER,,,,1;DDB1,upstream_gene_variant,,ENST00000540166,,,MODIFIER,,,,-1;DAK,upstream_gene_variant,,ENST00000525366,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000534134,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000524953,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000528061,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000524440,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000530329,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000533853,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000529092,,,MODIFIER,,,,1	A	ENST00000394900	Transcript	missense_variant	missense_variant	1098/4696	869/1728	290/575	G/D	gGc/gAc		1		1	DAK	HGNC	HGNC:24552	protein_coding	YES	CCDS8003.1	ENSP00000378360	Q3LXA3		UPI00000718B9	NM_015533.3	tolerated(0.53)	benign(0.008)	11/18		Pfam_domain:PF02733;TIGRFAM_domain:TIGR02361;Superfamily_domains:SSF82549																	MODERATE	1	SNV	1			1											PASS	AGAGGGCCGCG	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	A	3	1	15	61343345	61343345	G	A	1	0	0	0	0	1	0	0	0	16376	1217	42	3		3	TKFC	11	61343345	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	58921030	61343345	73743277	9	216											
PHLDB1	23187	BI	GRCh38	chr11	118628471	118628471	+	Missense_Mutation	SNP	G	G	A													gtctgggctctcttactgggGcttcaccctgccagagtccc					novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1648G>A	p.Ala550Thr	p.A550T	ENST00000361417	7/24	15	10	5	22			PHLDB1,missense_variant,p.A550T,ENST00000361417,NM_015157.3,c.1648G>A,MODERATE,YES,tolerated(0.44),benign(0.005),1;PHLDB1,missense_variant,p.A550T,ENST00000600882,NM_001144758.2,c.1648G>A,MODERATE,,tolerated(0.44),benign(0.005),1;PHLDB1,missense_variant,p.A550T,ENST00000356063,NM_001144759.2,c.1648G>A,MODERATE,,tolerated(0.38),benign(0.003),1;PHLDB1,upstream_gene_variant,,ENST00000534140,,,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000601898,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000530708,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000532639,,,MODIFIER,,,,1;PHLDB1,intron_variant,,ENST00000621027,,n.1193+540G>A,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000614369,,,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000527898,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000526374,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000617208,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000527259,,,MODIFIER,,,,1;PHLDB1,missense_variant,p.A550T,ENST00000530994,,c.1648G>A,MODERATE,,tolerated(0.15),benign(0.007),1;PHLDB1,missense_variant,p.A550T,ENST00000528594,,c.1648G>A,MODERATE,,tolerated(0.15),benign(0.007),1;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,,n.1542G>A,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000612681,,,MODIFIER,,,,1	A	ENST00000361417	Transcript	missense_variant	missense_variant	2059/5753	1648/4134	550/1377	A/T	Gct/Act		1		1	PHLDB1	HGNC	HGNC:23697	protein_coding	YES	CCDS8401.1	ENSP00000354498	Q86UU1	A0A024R3H6	UPI0000192101	NM_015157.3	tolerated(0.44)	benign(0.005)	7/24																			MODERATE	1	SNV	1			1											PASS	CTGGGGCTTCA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	A	3	1	15	118628471	118628471	G	A	1	0	0	0	0	1	0	0	0	11939	1203	42	3		3	PHLDB1	11	118628471	Missense_Mutation	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08	57285126	118628471	16458151	10	217	4	2									
PHLDB1	23187	BI	GRCh38	chr11	118628472	118628472	+	Missense_Mutation	SNP	C	C	T													tctgggctctcttactggggCttcaccctgccagagtccct					novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1649C>T	p.Ala550Val	p.A550V	ENST00000361417	7/24	15	10	5	22			PHLDB1,missense_variant,p.A550V,ENST00000361417,NM_015157.3,c.1649C>T,MODERATE,YES,tolerated(0.22),benign(0.14),1;PHLDB1,missense_variant,p.A550V,ENST00000600882,NM_001144758.2,c.1649C>T,MODERATE,,tolerated(0.22),benign(0.14),1;PHLDB1,missense_variant,p.A550V,ENST00000356063,NM_001144759.2,c.1649C>T,MODERATE,,tolerated(0.2),benign(0.068),1;PHLDB1,upstream_gene_variant,,ENST00000534140,,,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000601898,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000530708,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000532639,,,MODIFIER,,,,1;PHLDB1,intron_variant,,ENST00000621027,,n.1193+541C>T,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000614369,,,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000527898,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000526374,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000617208,,,MODIFIER,,,,1;PHLDB1,downstream_gene_variant,,ENST00000527259,,,MODIFIER,,,,1;PHLDB1,missense_variant,p.A550V,ENST00000530994,,c.1649C>T,MODERATE,,tolerated(0.14),benign(0.138),1;PHLDB1,missense_variant,p.A550V,ENST00000528594,,c.1649C>T,MODERATE,,tolerated(0.14),benign(0.138),1;PHLDB1,non_coding_transcript_exon_variant,,ENST00000532517,,n.1543C>T,MODIFIER,,,,1;PHLDB1,upstream_gene_variant,,ENST00000612681,,,MODIFIER,,,,1	T	ENST00000361417	Transcript	missense_variant	missense_variant	2060/5753	1649/4134	550/1377	A/V	gCt/gTt		1		1	PHLDB1	HGNC	HGNC:23697	protein_coding	YES	CCDS8401.1	ENSP00000354498	Q86UU1	A0A024R3H6	UPI0000192101	NM_015157.3	tolerated(0.22)	benign(0.14)	7/24																			MODERATE	1	SNV	1			1											PASS	TGGGGCTTCAC	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	3	4	15	118628472	118628472	C	T	1	0	0	0	0	1	0	0	0	11939	797	28	3		3	PHLDB1	11	118628472	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	1	118628472	16458150	11	218	4	2									
ACSM4	341392	BI	GRCh38	chr12	7324590	7324590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtagtccagatcaaatcCgcggagaggtagatgaatgt	12	7	2	4	rs199564292	by1000G;byCluster;byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.1528C>T	p.Arg510Cys	p.R510C	ENST00000399422	11/13	45	28	17	26			ACSM4,missense_variant,p.R510C,ENST00000399422,NM_001080454.1,c.1528C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1	T	ENST00000399422	Transcript	missense_variant	missense_variant	1576/2142	1528/1743	510/580	R/C	Cgc/Tgc	rs199564292	1		1	ACSM4	HGNC	HGNC:32016	protein_coding	YES	CCDS44825.1	ENSP00000382349	P0C7M7		UPI0000DD812A	NM_001080454.1	deleterious(0)	probably_damaging(0.998)	11/13		Superfamily_domains:SSF56801		0	0		0	0	0.001	3e-04	1e-04								MODERATE	1	SNV	5			1	0.0001407	0.0001414	0.0001023	0	0	0	3.006e-05	0.001119	0.000794		panel_of_normals	AAATCCGCGGA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd	common_in_exac;gdc_pon	COSM3399094;COSM3399095	True	Unknown	T	3	4	15	7324590	7324590	C	T	1	0	0	0	0	1	0	0	0	228	652	23	2		2	ACSM4	12	7324590	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		7324590	125950719	12	219											
FAM71D	161142	BI	GRCh38	chr14	67204771	67204771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaattacgaatagcacagaCatcacaggctccatggatgt	10	9	1	1	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.594C>T	p.=	p.D198D	ENST00000311864	5/9	64	35	29	64			FAM71D,synonymous_variant,p.D198D,ENST00000612183,NM_173526.3,c.594C>T,LOW,YES,,,1;FAM71D,downstream_gene_variant,,ENST00000530728,,,MODIFIER,,,,1;FAM71D,downstream_gene_variant,,ENST00000524532,,,MODIFIER,,,,1;FAM71D,upstream_gene_variant,,ENST00000556117,,,MODIFIER,,,,1;FAM71D,upstream_gene_variant,,ENST00000557671,,,MODIFIER,,,,1;FAM71D,downstream_gene_variant,,ENST00000531566,,,MODIFIER,,,,1;FAM71D,synonymous_variant,p.D198D,ENST00000311864,,c.594C>T,LOW,,,,1;FAM71D,synonymous_variant,p.D198D,ENST00000534174,,c.594C>T,LOW,,,,1;FAM71D,3_prime_UTR_variant,,ENST00000556046,,c.*650C>T,MODIFIER,,,,1;FAM71D,downstream_gene_variant,,ENST00000524914,,,MODIFIER,,,,1;RP11-125H8.1,downstream_gene_variant,,ENST00000553618,,,MODIFIER,YES,,,1	T	ENST00000311864	Transcript	synonymous_variant	synonymous_variant;NMD_transcript_variant	848/1754	594/1269	198/422	D	gaC/gaT		1		1	FAM71D	HGNC	HGNC:20101	nonsense_mediated_decay		CCDS9778.1	ENSP00000431905	Q8N9W8		UPI000013F210				5/9																			LOW		SNV	2			1											PASS	ACAGACATCAC	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	2	4	15	67204771	67204771	C	T	1	0	0	0	0	0	0	0	1	5474	477	17	3		3	FAM71D	14	67204771	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		67204771	39838947	13	220											
GPR68	8111	BI	GRCh38	chr14	91234976	91234976	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacggtaacatagaccacCggggccagcgtctggtggat	14	11	1	1	rs199863841	byCluster	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.75G>A	p.=	p.P25P	ENST00000531499	2/2	31	19	12	32			GPR68,synonymous_variant,p.P25P,ENST00000531499,NM_003485.3,c.75G>A,LOW,YES,,,-1;GPR68,synonymous_variant,p.P25P,ENST00000535815,NM_001177676.1,c.75G>A,LOW,,,,-1;GPR68,synonymous_variant,p.P25P,ENST00000529102,,c.75G>A,LOW,,,,-1;GPR68,downstream_gene_variant,,ENST00000529300,,,MODIFIER,,,,-1	T	ENST00000531499	Transcript	synonymous_variant	synonymous_variant	415/2859	75/1098	25/365	P	ccG/ccA	rs199863841	1		-1	GPR68	HGNC	HGNC:4519	protein_coding	YES	CCDS9894.2	ENSP00000434045	Q15743		UPI000005042A	NM_003485.3			2/2		Transmembrane_helices:Tmhmm;Prints_domain:PR01564;Prints_domain:PR00237;Superfamily_domains:SSF81321																	LOW	1	SNV	1			1	8.237e-06	8.372e-06	0	8.67e-05	0	0	0	0	0		PASS	ACCACCGGGGC	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	2	4	15	91234976	91234976	C	T	1	0	0	0	0	0	0	0	1	6590	639	23	2		2	GPR68	14	91234976	Silent	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	24030205	91234976	15808742	14	221											
ARNT2	9915	BI	GRCh38	chr15	80470243	80470243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatagtgaaatcgaaaggCgcagacggaacaagatgact	11	7	1	4	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.220C>T	p.Arg74Cys	p.R74C	ENST00000303329	4/19	25	11	14	18			ARNT2,missense_variant,p.R63C,ENST00000533983,,c.187C>T,MODERATE,,deleterious(0),possibly_damaging(0.898),1;ARNT2,missense_variant,p.R74C,ENST00000303329,NM_014862.3,c.220C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.898),1;ARNT2,missense_variant,p.R74C,ENST00000610490,,c.220C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;ARNT2,missense_variant,p.R74C,ENST00000622346,,c.220C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;ARNT2,missense_variant,p.R63C,ENST00000527771,,c.187C>T,MODERATE,,deleterious(0),possibly_damaging(0.898),1;ARNT2,intron_variant,,ENST00000525103,,c.-57+28865C>T,MODIFIER,,,,1;ARNT2,non_coding_transcript_exon_variant,,ENST00000531595,,n.1C>T,MODIFIER,,,,1;ARNT2,non_coding_transcript_exon_variant,,ENST00000529181,,n.386C>T,MODIFIER,,,,1	T	ENST00000303329	Transcript	missense_variant	missense_variant	385/6558	220/2154	74/717	R/C	Cgc/Tgc		1		1	ARNT2	HGNC	HGNC:16876	protein_coding	YES	CCDS32307.1	ENSP00000307479	Q9HBZ2	X5DQN9	UPI00001FEA05	NM_014862.3	deleterious(0)	possibly_damaging(0.898)	4/19		Pfam_domain:PF00010;PROSITE_profiles:PS50888;SMART_domains:SM00353;Superfamily_domains:SSF47459																	MODERATE	1	SNV	1			1											PASS	AAAGGCGCAGA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	3	4	15	80470243	80470243	C	T	1	0	0	0	0	1	0	0	0	1108	768	27	2		2	ARNT2	15	80470243	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		80470243	21520946	15	222											
ADAMTS18	170692	BI	GRCh38	chr16	77431464	77431464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcttaagttctaagTgcagttcctgtccaaatgct	10	10	1	0	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.326A>C	p.His109Pro	p.H109P	ENST00000282849	3/23	137	68	69	169			ADAMTS18,missense_variant,p.H109P,ENST00000282849,NM_199355.2,c.326A>C,MODERATE,YES,deleterious(0),probably_damaging(0.985),-1;ADAMTS18,missense_variant,p.H42P,ENST00000562345,,c.124A>C,MODERATE,,,,-1;AC025284.1,downstream_gene_variant,,ENST00000401312,,,MODIFIER,YES,,,-1;RP11-449J10.1,upstream_gene_variant,,ENST00000564358,,,MODIFIER,YES,,,1;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567121,,n.183A>C,MODIFIER,,,,-1;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000564369,,n.252A>C,MODIFIER,,,,-1;ADAMTS18,missense_variant,p.H109P,ENST00000449265,,c.326A>C,MODERATE,,deleterious(0),probably_damaging(0.992),-1;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000569309,,n.283A>C,MODIFIER,,,,-1;ADAMTS18,non_coding_transcript_exon_variant,,ENST00000567914,,n.170A>C,MODIFIER,,,,-1	G	ENST00000282849	Transcript	missense_variant	missense_variant	745/5913	326/3666	109/1221	H/P	cAc/cCc		1		-1	ADAMTS18	HGNC	HGNC:17110	protein_coding	YES	CCDS10926.1	ENSP00000282849	Q8TE60		UPI0000233610	NM_199355.2	deleterious(0)	probably_damaging(0.985)	3/23		Pfam_domain:PF01562																	MODERATE	1	SNV	1			1											PASS	CTAAGTGCAGT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	G	3	3	15	77431464	77431464	T	G	1	0	0	0	0	1	0	0	0	307	1696	59	5		5	ADAMTS18	16	77431464	Missense_Mutation	SNP	T	TCGA-V4-A9EJ-01A-11D-A39W-08		77431464	12906881	16	223											
NAA38	84316	BI	GRCh38	chr17	7856779	7856779	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgcacctcaatggaAacgatgtggtgtccgggtac	11	12	2	0	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.330T>C	p.=	p.V110V	ENST00000575771	3/3	59	39	20	67			NAA38,synonymous_variant,p.V158V,ENST00000333775,NM_032356.3,c.474T>C,LOW,YES,,,-1;NAA38,synonymous_variant,p.V110V,ENST00000575771,,c.330T>C,LOW,,,,-1;NAA38,synonymous_variant,p.V84V,ENST00000576861,,c.252T>C,LOW,,,,-1;NAA38,synonymous_variant,p.V120V,ENST00000575071,,c.360T>C,LOW,,,,-1;NAA38,synonymous_variant,p.V58V,ENST00000575208,,c.174T>C,LOW,,,,-1;NAA38,synonymous_variant,p.V68V,ENST00000576384,,c.204T>C,LOW,,,,-1;KDM6B,downstream_gene_variant,,ENST00000254846,NM_001080424.1,,MODIFIER,YES,,,1;KDM6B,downstream_gene_variant,,ENST00000448097,,,MODIFIER,,,,1;CYB5D1,upstream_gene_variant,,ENST00000332439,NM_144607.4,,MODIFIER,YES,,,1;CYB5D1,upstream_gene_variant,,ENST00000571846,,,MODIFIER,,,,1;TMEM88,downstream_gene_variant,,ENST00000301599,NM_203411.1,,MODIFIER,YES,,,1;CYB5D1,upstream_gene_variant,,ENST00000570446,,,MODIFIER,,,,1;TMEM88,downstream_gene_variant,,ENST00000574668,,,MODIFIER,,,,1;RP11-1099M24.6,upstream_gene_variant,,ENST00000624171,,,MODIFIER,YES,,,1;NAA38,downstream_gene_variant,,ENST00000570555,,,MODIFIER,,,,-1;CYB5D1,upstream_gene_variant,,ENST00000573940,,,MODIFIER,,,,1;CYB5D1,upstream_gene_variant,,ENST00000574357,,,MODIFIER,,,,1;CYB5D1,upstream_gene_variant,,ENST00000574196,,,MODIFIER,,,,1	G	ENST00000575771	Transcript	synonymous_variant	synonymous_variant	758/852	330/378	110/125	V	gtT/gtC		1		-1	NAA38	HGNC	HGNC:28212	protein_coding			ENSP00000460172	Q9BRA0		UPI0000070016				3/3		Pfam_domain:PF01423;SMART_domains:SM00651;Superfamily_domains:SSF50182																	LOW		SNV	1			1											PASS	ATGGAAACGAT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	G	2	3	15	7856779	7856779	A	G	1	0	0	0	0	0	0	0	1	10127	1	1	4		4	NAA38	17	7856779	Silent	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		7856779	75400662	17	224											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	53	27	26	69			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd		COSM52969	True	Unknown	T	3	4	15	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08		3118944	55498672	18	225											
TNFSF14	8740	BI	GRCh38	chr19	6665000	6665000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcatccagcacacggaCgaccaccttctccccagcct	7	19	2	0	rs202048657	by1000G;byCluster	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.649G>A	p.Val217Ile	p.V217I	ENST00000599359	5/5	67	47	20	65			TNFSF14,missense_variant,p.V181I,ENST00000245912,NM_172014.2,c.541G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.778),-1;TNFSF14,missense_variant,p.V217I,ENST00000599359,NM_003807.3,c.649G>A,MODERATE,YES,deleterious(0.04),probably_damaging(0.954),-1	T	ENST00000599359	Transcript	missense_variant	missense_variant	1031/1476	649/723	217/240	V/I	Gtc/Atc	rs202048657	1		-1	TNFSF14	HGNC	HGNC:11930	protein_coding	YES	CCDS12171.1	ENSP00000469049	O43557			NM_003807.3	deleterious(0.04)	probably_damaging(0.954)	5/5		Low_complexity_(Seg):Seg;Pfam_domain:PF00229;Prints_domain:PR01234;PROSITE_profiles:PS50049;SMART_domains:SM00207;Superfamily_domains:SSF49842	2e-04	0	0		0.001	0	0										MODERATE	1	SNV	1			1	3.295e-05	3.305e-05	0	0	0.0003467	0	1.502e-05	0	0		PASS	ACGGACGACCA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd		COSM4082593	True	Unknown	T	3	4	15	6665000	6665000	C	T	1	0	0	0	0	1	0	0	0	16780	536	19	1		1	TNFSF14	19	6665000	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08	3546056	6665000	51952616	19	226											
ZNF599	148103	BI	GRCh38	chr19	34759870	34759870	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccacattctttgcataaaaAgggtttttctcgagtgtgag	9	8	2	1	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.931T>G	p.Phe311Val	p.F311V	ENST00000329285	4/4	85	53	32	88			ZNF599,missense_variant,p.F311V,ENST00000329285,NM_001007248.2,c.931T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.899),-1;ZNF599,downstream_gene_variant,,ENST00000587354,,,MODIFIER,,,,-1	C	ENST00000329285	Transcript	missense_variant	missense_variant	1305/3099	931/1767	311/588	F/V	Ttt/Gtt		1		-1	ZNF599	HGNC	HGNC:26408	protein_coding	YES	CCDS32991.1	ENSP00000333802	Q96NL3		UPI0000071186	NM_001007248.2	deleterious(0)	possibly_damaging(0.899)	4/4		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1											PASS	TAAAAAGGGTT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	C	3	2	15	34759870	34759870	A	C	1	0	0	0	0	1	0	0	0	18604	72	3	5		5	ZNF599	19	34759870	Missense_Mutation	SNP	A	TCGA-V4-A9EJ-01A-11D-A39W-08	28094870	34759870	23857746	20	227											
OR11H1	81061	BI	GRCh38	chr22	15528243	15528243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtaaatgaatttataCtccaaggtttctcttgtgag	7	6	1	2	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.85C>T	p.Leu29Phe	p.L29F	ENST00000252835	1/1	118	93	25	387			OR11H1,missense_variant,p.L29F,ENST00000252835,NM_001005239.1,c.85C>T,MODERATE,YES,deleterious(0),benign(0.417),1	T	ENST00000252835	Transcript	missense_variant	missense_variant	86/982	85/981	29/326	L/F	Ctc/Ttc		1		1	OR11H1	HGNC	HGNC:15404	protein_coding	YES	CCDS74807.1	ENSP00000252835	Q8NG94		UPI000004B1CF	NM_001005239.1	deleterious(0)	benign(0.417)	1/1		Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TTATACTCCAA	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd			True	Unknown	T	3	4	15	15528243	15528243	C	T	1	0	0	0	0	1	0	0	0	11002	565	20	3		3	OR11H1	22	15528243	Missense_Mutation	SNP	C	TCGA-V4-A9EJ-01A-11D-A39W-08		15528243	35290225	21	228											
ADGRG4	139378	BI	GRCh38	chrX	136387739	136387739	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttttggcttttcttggcaGattttcctaggcaatgtccc	8	9	1	1	novel		TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	c.7777-1G>T		p.X2593_splice	ENST00000370652		47	2	45	75			ADGRG4,splice_acceptor_variant,p.X2593_splice,ENST00000394143,NM_153834.3,c.7777-1G>T,HIGH,YES,,,1;ADGRG4,splice_acceptor_variant,p.X2593_splice,ENST00000370652,,c.7777-1G>T,HIGH,,,,1;ADGRG4,splice_acceptor_variant,p.X2388_splice,ENST00000394141,,c.7162-1G>T,HIGH,,,,1	T	ENST00000370652	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/9820	7777/9243	2593/3080				1		1	ADGRG4	HGNC	HGNC:18992	protein_coding		CCDS35409.1	ENSP00000359686	Q8IZF6		UPI00004CEC5B					13/23																		HIGH		SNV	1			1											PASS	TGGCAGATTTT	265e8dcf-9048-4b6b-a1eb-43061767dcda	e5c155f5-62b4-4083-86f9-f42540b4c653	b9e2a5e7-5a08-4ccb-ae75-d3ca2eaa481f	d9ccba9b-6bf0-44d9-8097-a97ab747f0bd	NonExonic		True	Unknown	T	5	4	15	136387739	136387739	G	T	1	0	0	0	0	0	0	1	0	371	956	33	5		5	ADGRG4	23	136387739	Splice_Site	SNP	G	TCGA-V4-A9EJ-01A-11D-A39W-08		136387739	19653156	22	229											
AADACL4	343066	BI	GRCh38	chr1	12651288	12651288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcagcatcctccagacccCggcgaggcatcatcttctac	9	16	3	1	rs559695381	byCluster;byFrequency	TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.334C>T	p.Arg112Trp	p.R112W	ENST00000376221	2/4	42	29	13	83			AADACL4,missense_variant,p.R112W,ENST00000376221,NM_001013630.1,c.334C>T,MODERATE,YES,tolerated(0.06),benign(0.081),1	T	ENST00000376221	Transcript	missense_variant	missense_variant	334/1575	334/1224	112/407	R/W	Cgg/Tgg	rs559695381	1		1	AADACL4	HGNC	HGNC:32038	protein_coding	YES	CCDS30590.1	ENSP00000365395	Q5VUY2			NM_001013630.1	tolerated(0.06)	benign(0.081)	2/4		Superfamily_domains:SSF53474;PIRSF_domain:PIRSF037251																	MODERATE	1	SNV	5			1	2.471e-05	2.472e-05	0	0	0	0	2.998e-05	0	6.057e-05		panel_of_normals	GACCCCGGCGA	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04	gdc_pon		True	Unknown	T	3	4	16	12651288	12651288	C	T	1	0	0	0	0	1	0	0	0	13	643	23	2		2	AADACL4	1	12651288	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08		12651288	236305134	1	230											
USP34	9736	BI	GRCh38	chr2	61206816	61206816	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaagaaatattgacagaAgttctactaaatctccagtc	6	9	2	3	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.8990T>C	p.Leu2997Pro	p.L2997P	ENST00000398571	71/80	35	26	9	46			USP34,missense_variant,p.L2997P,ENST00000398571,NM_014709.3,c.8990T>C,MODERATE,YES,deleterious(0),probably_damaging(0.959),-1;USP34,missense_variant,p.L757P,ENST00000411912,,c.2268T>C,MODERATE,,deleterious(0),probably_damaging(0.977),-1;USP34,upstream_gene_variant,,ENST00000436269,,,MODIFIER,,,,-1;USP34,non_coding_transcript_exon_variant,,ENST00000476716,,n.367T>C,MODIFIER,,,,-1;USP34,non_coding_transcript_exon_variant,,ENST00000467128,,n.503T>C,MODIFIER,,,,-1;USP34,downstream_gene_variant,,ENST00000472689,,,MODIFIER,,,,-1;USP34,non_coding_transcript_exon_variant,,ENST00000463046,,n.4430T>C,MODIFIER,,,,-1	G	ENST00000398571	Transcript	missense_variant	missense_variant	9067/11357	8990/10641	2997/3546	L/P	cTt/cCt		1		-1	USP34	HGNC	HGNC:20066	protein_coding	YES	CCDS42686.1	ENSP00000381577	Q70CQ2		UPI0000410E09	NM_014709.3	deleterious(0)	probably_damaging(0.959)	71/80		Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1											PASS	ACAGAAGTTCT	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	G	3	3	16	61206816	61206816	A	G	1	0	0	0	0	1	0	0	0	17607	72	3	4		4	USP34	2	61206816	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		61206816	180986713	2	231											
SPHKAP	80309	BI	GRCh38	chr2	228016839	228016839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttgcgagggagagcCaccagaaacaggctcagtgt	13	11	2	2	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.4015G>A	p.Gly1339Ser	p.G1339S	ENST00000392056	7/12	102	81	21	59			SPHKAP,missense_variant,p.G1339S,ENST00000392056,NM_001142644.1,c.4015G>A,MODERATE,YES,tolerated(0.31),benign(0.019),-1;SPHKAP,missense_variant,p.G1339S,ENST00000344657,NM_030623.3,c.4015G>A,MODERATE,,tolerated(0.29),benign(0.043),-1	T	ENST00000392056	Transcript	missense_variant	missense_variant	4062/6917	4015/5103	1339/1700	G/S	Ggc/Agc		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	tolerated(0.31)	benign(0.019)	7/12																			MODERATE	1	SNV	1			1											PASS	AGAGCCACCAG	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	T	3	4	16	228016839	228016839	C	T	1	0	0	0	0	1	0	0	0	15399	594	21	3		3	SPHKAP	2	228016839	Missense_Mutation	SNP	C	TCGA-V4-A9EK-01A-11D-A39W-08	166810023	228016839	14176690	3	232											
ABCA13	154664	BI	GRCh38	chr7	48272290	48272290	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacaagttttaacttttcccAgttgttccattcagattggc	6	9	1	1	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.2624A>T	p.Gln875Leu	p.Q875L	ENST00000435803	17/62	96	60	36	190			ABCA13,missense_variant,p.Q875L,ENST00000435803,NM_152701.3,c.2624A>T,MODERATE,YES,,probably_damaging(0.997),1;ABCA13,3_prime_UTR_variant,,ENST00000417403,,c.*1843A>T,MODIFIER,,,,1	T	ENST00000435803	Transcript	missense_variant	missense_variant	2648/17184	2624/15177	875/5058	Q/L	cAg/cTg		1		1	ABCA13	HGNC	HGNC:14638	protein_coding	YES	CCDS47584.1	ENSP00000411096		A0A0A0MT16	UPI00043788D8	NM_152701.3		probably_damaging(0.997)	17/62																			MODERATE	1	SNV	1			1											PASS	TTCCCAGTTGT	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	T	3	4	16	48272290	48272290	A	T	1	0	0	0	0	1	0	0	0	35	188	7	5		5	ABCA13	7	48272290	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		48272290	111073683	4	233											
PCLO	27445	BI	GRCh38	chr7	82955888	82955888	+	Frame_Shift_Del	DEL	T	T	-													ttcgtcaaaatacaaacttgTttttttctgtgatgactctg					novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.5065delA	p.Thr1689GlnfsTer16	p.T1689Qfs*16	ENST00000333891	5/25	11	7	4	47			PCLO,frameshift_variant,p.T1689Qfs*16,ENST00000333891,NM_033026.5,c.5065delA,HIGH,YES,,,-1;PCLO,frameshift_variant,p.T1689Qfs*16,ENST00000423517,NM_014510.2,c.5065delA,HIGH,,,,-1	-	ENST00000333891	Transcript	frameshift_variant	frameshift_variant	5403/20329	5065/15429	1689/5142	T/X	Aca/ca		1		-1	PCLO	HGNC	HGNC:13406	protein_coding	YES	CCDS47630.1	ENSP00000334319	Q9Y6V0		UPI0001573469	NM_033026.5			5/25																			HIGH	1	deletion	2			1											PASS	AACTTGTTTTTT	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	-	7	5	16	82955888	82955888	T	-	1	0	1	0	1	0	0	0	0	11671	1725	60	0		0	PCLO	7	82955888	Frame_Shift_Del	DEL	T	TCGA-V4-A9EK-01A-11D-A39W-08	34683598	82955888	76390085	5	234											
RGS20	8601	BI	GRCh38	chr8	53958457	53958457	+	Nonstop_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatctattgaagcatAggatttttcaaatatattta	7	3	2	2	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.1166A>G	p.Ter389TrpextTer20	p.*389Wext*20	ENST00000297313	6/6	16	13	3	16			RGS20,stop_lost,p.*389Wext*20,ENST00000297313,NM_170587.3,c.1166A>G,HIGH,YES,,,1;RGS20,stop_lost,p.*274Wext*20,ENST00000344277,NM_001286673.1,c.821A>G,HIGH,,,,1;RGS20,stop_lost,p.*242Wext*20,ENST00000276500,NM_003702.4,c.725A>G,HIGH,,,,1;RGS20,stop_lost,p.*123Wext*20,ENST00000522225,,c.368A>G,HIGH,,,,1;RGS20,non_coding_transcript_exon_variant,,ENST00000517405,,n.553A>G,MODIFIER,,,,1;RGS20,downstream_gene_variant,,ENST00000523414,,,MODIFIER,,,,1;RGS20,downstream_gene_variant,,ENST00000518286,,,MODIFIER,,,,1;RGS20,3_prime_UTR_variant,,ENST00000517659,NM_001286675.1,c.*495A>G,MODIFIER,,,,1;RGS20,3_prime_UTR_variant,,ENST00000523280,NM_001286674.1,c.*375A>G,MODIFIER,,,,1	G	ENST00000297313	Transcript	stop_lost	stop_lost	1258/2104	1166/1167	389/388	*/W	tAg/tGg		1		1	RGS20	HGNC	HGNC:14600	protein_coding	YES	CCDS6155.1	ENSP00000297313	O76081		UPI000013383C	NM_170587.3			6/6																			HIGH	1	SNV	1			1											PASS	AGCATAGGATT	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			False	Unknown	G	4	3	16	53958457	53958457	A	G	1	0	0	0	0	0	0	0	0	13474	433	15	4		4	RGS20	8	53958457	Nonstop_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08		53958457	91180179	6	235											
COL14A1	7373	BI	GRCh38	chr8	120225188	120225188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgaaggacagtcagAgcctctgactggagttttta	11	7	2	4	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.1838A>G	p.Glu613Gly	p.E613G	ENST00000297848	15/48	108	75	33	77			COL14A1,missense_variant,p.E613G,ENST00000297848,NM_021110.2,c.1838A>G,MODERATE,YES,tolerated(0.34),possibly_damaging(0.77),1;COL14A1,missense_variant,p.E613G,ENST00000309791,,c.1838A>G,MODERATE,,tolerated(0.39),possibly_damaging(0.581),1;COL14A1,missense_variant,p.E426G,ENST00000434620,,c.1277A>G,MODERATE,,tolerated(0.09),possibly_damaging(0.812),1;COL14A1,3_prime_UTR_variant,,ENST00000537875,,c.*360A>G,MODIFIER,,,,1;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,,n.2072A>G,MODIFIER,,,,1;COL14A1,3_prime_UTR_variant,,ENST00000498051,,c.*360A>G,MODIFIER,,,,1	G	ENST00000297848	Transcript	missense_variant	missense_variant	2108/6466	1838/5391	613/1796	E/G	gAg/gGg		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	tolerated(0.34)	possibly_damaging(0.77)	15/48		Pfam_domain:PF00041;PROSITE_profiles:PS50853;Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1											PASS	GTCAGAGCCTC	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	G	3	3	16	120225188	120225188	A	G	1	0	0	0	0	1	0	0	0	3459	304	11	4		4	COL14A1	8	120225188	Missense_Mutation	SNP	A	TCGA-V4-A9EK-01A-11D-A39W-08	66266731	120225188	24913448	7	236											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	52	31	21	124			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04		COSM28758	True	Unknown	G	3	3	16	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EK-01A-11D-A39W-08		77794572	60600145	8	237											
PNLIP	5406	BI	GRCh38	chr10	116555226	116555226	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcacacctgaattagtccGattggaccccagcgatgcca	11	13	0	1	rs149884015	byCluster	TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.620G>A	p.Arg207Gln	p.R207Q	ENST00000369221	7/13	68	44	24	76			PNLIP,missense_variant,p.R207Q,ENST00000369221,NM_000936.2,c.620G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;PNLIP,downstream_gene_variant,,ENST00000470562,,,MODIFIER,,,,1	A	ENST00000369221	Transcript	missense_variant	missense_variant	648/1483	620/1398	207/465	R/Q	cGa/cAa	rs149884015	1		1	PNLIP	HGNC	HGNC:9155	protein_coding	YES	CCDS7594.1	ENSP00000358223	P16233		UPI000004F1A0	NM_000936.2	deleterious(0)	probably_damaging(1)	7/13		Pfam_domain:PF00151;Superfamily_domains:SSF53474;PIRSF_domain:PIRSF000865											1	21499247					MODERATE	1	SNV	1			1											PASS	AGTCCGATTGG	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04		COSM109426	True	Unknown	A	3	1	16	116555226	116555226	G	A	1	0	0	0	0	1	0	0	0	12257	1058	37	2		2	PNLIP	10	116555226	Missense_Mutation	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		116555226	17242196	9	238											
FTHL17	53940	BI	GRCh38	chrX	31071717	31071717	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atatcgtgaaggcagatgtgGccaccgcgcaggttctgcag	14	10	1	2	novel		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	c.237C>A	p.=	p.G79G	ENST00000359202	1/1	49	41	8	56			FTHL17,synonymous_variant,p.G79G,ENST00000359202,NM_031894.2,c.237C>A,LOW,YES,,,-1	T	ENST00000359202	Transcript	synonymous_variant	synonymous_variant	337/813	237/552	79/183	G	ggC/ggA		1		-1	FTHL17	HGNC	HGNC:3987	protein_coding	YES	CCDS14227.1	ENSP00000368207	Q9BXU8		UPI00000421FF	NM_031894.2			1/1		Pfam_domain:PF00210;PROSITE_profiles:PS50905;Superfamily_domains:SSF47240																	LOW	1	SNV				1											PASS	ATGTGGCCACC	c6acafb6-c0a8-4a54-9888-987e5e26c245	f6c60524-811d-4f7b-a481-a69671805189	4d9a266c-a175-458c-b4bd-1ce1182cc529	4464418c-ec35-4826-b3d5-152ac2a27a04			True	Unknown	T	2	4	16	31071717	31071717	G	T	1	0	0	0	0	0	0	0	1	5957	1190	42	5		5	FTHL17	23	31071717	Silent	SNP	G	TCGA-V4-A9EK-01A-11D-A39W-08		31071717	124969178	10	239											
WDR47	22911	BI	GRCh38	chr1	109011155	109011155	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gattgaggtcttctcattggGgatgatggatagggagagag	17	3	2	3	novel		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.891C>G	p.=	p.S297S	ENST00000369962	5/15	384	239	145	275			WDR47,synonymous_variant,p.S297S,ENST00000369965,NM_014969.5,c.891C>G,LOW,,,,-1;WDR47,synonymous_variant,p.S297S,ENST00000369962,NM_001142551.1,c.891C>G,LOW,,,,-1;WDR47,synonymous_variant,p.S269S,ENST00000357672,,c.807C>G,LOW,,,,-1;WDR47,synonymous_variant,p.S304S,ENST00000400794,NM_001142550.1,c.912C>G,LOW,YES,,,-1;WDR47,synonymous_variant,p.S269S,ENST00000361054,,c.807C>G,LOW,,,,-1;WDR47,downstream_gene_variant,,ENST00000529074,,,MODIFIER,,,,-1;WDR47,downstream_gene_variant,,ENST00000528747,,,MODIFIER,,,,-1;WDR47,downstream_gene_variant,,ENST00000530772,,,MODIFIER,,,,-1;WDR47,downstream_gene_variant,,ENST00000531337,,,MODIFIER,,,,-1	C	ENST00000369962	Transcript	synonymous_variant	synonymous_variant	1114/4199	891/2760	297/919	S	tcC/tcG		1		-1	WDR47	HGNC	HGNC:29141	protein_coding		CCDS44187.1	ENSP00000358979	O94967		UPI0000139DD3	NM_001142551.1			5/15																			LOW		SNV	1			1											PASS	ATTGGGGATGA	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			True	Unknown	C	2	2	17	109011155	109011155	G	C	1	0	0	0	0	0	0	0	1	17860	1219	43	5		5	WDR47	1	109011155	Silent	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		109011155	139945267	1	240											
BAP1	8314	BI	GRCh38	chr3	52404526	52404526	+	Nonsense_Mutation	SNP	G	G	A													atcctcatcatctgagtactGctggggtgggcggactggaa							TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.1177C>T	p.Gln393Ter	p.Q393*	ENST00000460680	12/17	6	2	4	28			BAP1,stop_gained,p.Q393*,ENST00000460680,NM_004656.3,c.1177C>T,HIGH,YES,,,-1;BAP1,stop_gained,p.Q375*,ENST00000296288,,c.1123C>T,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,,n.605C>T,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	A	ENST00000460680	Transcript	stop_gained	stop_gained	1649/3937	1177/2190	393/729	Q/*	Cag/Tag		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			12/17																			HIGH	1	SNV	1			1											PASS	GTACTGCTGGG	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa		COSM5574318	False	Unknown	A	4	1	17	52404526	52404526	G	A	1	0	0	0	0	0	1	0	0	1463	1328	46	3		3	BAP1	3	52404526	Nonsense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		52404526	145891033	2	241	5	2									
BAP1	8314	BI	GRCh38	chr3	52404528	52404532	+	Frame_Shift_Del	DEL	TGGGG	TGGGG	-													cctcatcatctgagtactgcTggggtgggcggactggaact					novel		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.1171_1175delCCCCA	p.Pro391AlafsTer5	p.P391Afs*5	ENST00000460680	12/17	6	2	4	27			BAP1,frameshift_variant,p.P391Afs*5,ENST00000460680,NM_004656.3,c.1171_1175delCCCCA,HIGH,YES,,,-1;BAP1,frameshift_variant,p.P373Afs*5,ENST00000296288,,c.1117_1121delCCCCA,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,,n.599_603delCCCCA,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	1643-1647/3937	1171-1175/2190	391-392/729	PQ/X	CCCCAg/g		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			12/17																			HIGH	1	deletion	1			1											PASS	TACTGCTGGGGTGGGC	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			False	Unknown	-	7	5	17	52404528	52404528	TGGGG	-	1	0	1	0	1	0	0	0	0	1463	1580	55	0		0	BAP1	3	52404528	Frame_Shift_Del	DEL	TGGGG	TCGA-V4-A9EL-01A-11D-A39W-08	2	52404528	145891031	3	242	5	2									
SYTL3	94120	BI	GRCh38	chr6	158760661	158760661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaaatacgaagacagcGttcctcagagtaatggagag	13	7	1	4	rs749669847	byFrequency	TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.1330G>A	p.Val444Ile	p.V444I	ENST00000297239	14/17	70	20	50	89			SYTL3,missense_variant,p.V444I,ENST00000611299,NM_001242394.1,c.1330G>A,MODERATE,YES,tolerated(0.54),benign(0.001),1;SYTL3,missense_variant,p.V376I,ENST00000367081,NM_001242395.1&NM_001009991.3,c.1126G>A,MODERATE,,tolerated(0.23),benign(0.008),1;SYTL3,missense_variant,p.V444I,ENST00000360448,NM_001242384.1,c.1330G>A,MODERATE,,tolerated(0.54),benign(0.001),1;SYTL3,missense_variant,p.V444I,ENST00000297239,,c.1330G>A,MODERATE,,tolerated(0.54),benign(0.001),1;MIR3918,downstream_gene_variant,,ENST00000581555,,,MODIFIER,YES,,,-1	A	ENST00000297239	Transcript	missense_variant	missense_variant	1524/2292	1330/1833	444/610	V/I	Gtt/Att	rs749669847	1		1	SYTL3	HGNC	HGNC:15587	protein_coding		CCDS56458.1	ENSP00000297239	Q4VX76		UPI000015FE68		tolerated(0.54)	benign(0.001)	14/17																			MODERATE		SNV	1			1	1.647e-05	1.647e-05	0	0	0	0	2.997e-05	0	0		PASS	ACAGCGTTCCT	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			True	Unknown	A	3	1	17	158760661	158760661	G	A	1	0	0	0	0	1	0	0	0	15878	1145	40	1		1	SYTL3	6	158760661	Missense_Mutation	SNP	G	TCGA-V4-A9EL-01A-11D-A39W-08		158760661	12045318	4	243											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	138	79	59	106			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa		COSM28757	True	Unknown	A	3	1	17	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EL-01A-11D-A39W-08		77794572	60600145	5	244											
GGA3	23163	BI	GRCh38	chr17	75243075	75243076	+	In_Frame_Ins	INS	-	-	TCA													cctttaccttggacttctccINStcatcatcaaaaacagggtt					novel		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.513_515dupTGA	p.Asp171dup	p.D171dup	ENST00000537686	6/17	104	95	9	80			GGA3,inframe_insertion,p.D171dup,ENST00000537686,NM_138619.2,c.513_515dupTGA,MODERATE,YES,,,-1;GGA3,inframe_insertion,p.D138dup,ENST00000538886,NM_014001.3&NM_001291642.1,c.414_416dupTGA,MODERATE,,,,-1;GGA3,inframe_insertion,p.D99dup,ENST00000582486,,c.297_299dupTGA,MODERATE,,,,-1;GGA3,inframe_insertion,p.D99dup,ENST00000582717,NM_001172703.1,c.297_299dupTGA,MODERATE,,,,-1;GGA3,inframe_insertion,p.D49dup,ENST00000578348,NM_001172704.1,c.147_149dupTGA,MODERATE,,,,-1;GGA3,inframe_insertion,p.D49dup,ENST00000580799,,c.147_149dupTGA,MODERATE,,,,-1;GGA3,downstream_gene_variant,,ENST00000579743,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000583282,,,MODIFIER,,,,-1;GGA3,3_prime_UTR_variant,,ENST00000621870,NM_001291641.1,c.*472_*474dupTGA,MODIFIER,,,,-1;GGA3,3_prime_UTR_variant,,ENST00000584243,,c.*146_*148dupTGA,MODIFIER,,,,-1;GGA3,non_coding_transcript_exon_variant,,ENST00000613421,,n.549_551dupTGA,MODIFIER,,,,-1;GGA3,intron_variant,,ENST00000621217,,c.425-167_425-165dupTGA,MODIFIER,,,,-1;GGA3,intron_variant,,ENST00000582821,,n.329-167_329-165dupTGA,MODIFIER,,,,-1;GGA3,intron_variant,,ENST00000577435,,c.*285-167_*285-165dupTGA,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000614198,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000580646,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000584550,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000582232,,,MODIFIER,,,,-1;GGA3,downstream_gene_variant,,ENST00000582376,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000583667,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000578208,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000578896,,,MODIFIER,,,,-1;GGA3,upstream_gene_variant,,ENST00000578773,,,MODIFIER,,,,-1	TCA	ENST00000537686	Transcript	inframe_insertion	inframe_insertion	732-733/4069	515-516/2172	172/723	E/DE	gag/gaTGAg		1		-1	GGA3	HGNC	HGNC:17079	protein_coding	YES	CCDS11717.1	ENSP00000438085	Q9NZ52		UPI000012B3DF	NM_138619.2			6/17		PROSITE_profiles:PS50909;Superfamily_domains:SSF89009																	MODERATE	1	insertion	1			1											PASS	TTCTCCTCATC	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			False	Unknown	TCA	7	5	17	75243075	75243075	-	TCA	1	0	1	1	0	0	0	0	0	6229	680	24	0		0	GGA3	17	75243075	In_Frame_Ins	INS	-	TCGA-V4-A9EL-01A-11D-A39W-08		75243075	8014366	6	245											
SERPINB4	6318	BI	GRCh38	chr18	63637998	63637998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattcccatggttctcaaCgtgtccttgaggtcatagct	8	12	2	1	rs776882459	byFrequency	TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.894G>A	p.=	p.T298T	ENST00000341074	8/8	89	60	29	71			SERPINB4,synonymous_variant,p.T298T,ENST00000341074,NM_002974.2,c.894G>A,LOW,YES,,,-1;SERPINB3,synonymous_variant,p.T298T,ENST00000356424,,c.894G>A,LOW,,,,-1;SERPINB4,synonymous_variant,p.T279T,ENST00000413673,,c.836G>A,LOW,,,,-1;SERPINB4,downstream_gene_variant,,ENST00000436264,,,MODIFIER,,,,-1;SERPINB4,downstream_gene_variant,,ENST00000498496,,,MODIFIER,,,,-1	T	ENST00000341074	Transcript	synonymous_variant	synonymous_variant	1010/1749	894/1173	298/390	T	acG/acA	rs776882459	1		-1	SERPINB4	HGNC	HGNC:10570	protein_coding	YES	CCDS11986.1	ENSP00000343445	P48594		UPI0000038A1A	NM_002974.2			8/8		Pfam_domain:PF00079;SMART_domains:SM00093;Superfamily_domains:SSF56574																	LOW	1	SNV	1			1											PASS	CTCAACGTGTC	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa		COSM4166841	True	Unknown	T	2	4	17	63637998	63637998	C	T	1	0	0	0	0	0	0	0	1	14379	523	19	1		1	SERPINB4	18	63637998	Silent	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		63637998	16735287	7	246											
ZNF473	25888	BI	GRCh38	chr19	50046375	50046375	+	Frame_Shift_Del	DEL	C	C	-													tccttccacacaaaggagcaCccttttaaatgtaacgaatg					novel		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.1934delC	p.Pro645LeufsTer22	p.P645Lfs*22	ENST00000270617	5/5	66	42	24	48			ZNF473,frameshift_variant,p.P645Lfs*22,ENST00000595661,,c.1934delC,HIGH,YES,,,1;ZNF473,frameshift_variant,p.P645Lfs*22,ENST00000391821,NM_001006656.1,c.1934delC,HIGH,,,,1;ZNF473,frameshift_variant,p.P645Lfs*22,ENST00000270617,NM_015428.1,c.1934delC,HIGH,,,,1;ZNF473,frameshift_variant,p.P633Lfs*22,ENST00000445728,,c.1898delC,HIGH,,,,1;ZNF473,intron_variant,,ENST00000601364,,c.226+4558delC,MODIFIER,,,,1;ZNF473,downstream_gene_variant,,ENST00000598809,,,MODIFIER,,,,1;ZNF473,downstream_gene_variant,,ENST00000599155,,,MODIFIER,,,,1;CTD-2126E3.3,intron_variant,,ENST00000599914,,n.182-1588delG,MODIFIER,YES,,,-1;CTD-2126E3.3,intron_variant,,ENST00000599410,,n.295+1584delG,MODIFIER,,,,-1;FLJ26850,upstream_gene_variant,,ENST00000527209,,,MODIFIER,YES,,,1;ZNF473,downstream_gene_variant,,ENST00000598802,,,MODIFIER,,,,1;ZNF473,downstream_gene_variant,,ENST00000594968,,,MODIFIER,,,,1	-	ENST00000270617	Transcript	frameshift_variant	frameshift_variant	2291/4688	1932/2616	644/871	H/X	caC/ca		1		1	ZNF473	HGNC	HGNC:23239	protein_coding		CCDS33077.1	ENSP00000270617	Q8WTR7	A0A024QZI1	UPI000006ED91	NM_015428.1			5/5		Superfamily_domains:SSF57667																	HIGH		deletion	1	2		1											PASS	GGAGCACCCTTT	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			True	Unknown	-	7	5	17	50046375	50046375	C	-	1	0	1	0	1	0	0	0	0	18503	506	18	0		0	ZNF473	19	50046375	Frame_Shift_Del	DEL	C	TCGA-V4-A9EL-01A-11D-A39W-08		50046375	8571241	8	247											
EWSR1	2130	BI	GRCh38	chr22	29278061	29278061	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccaactgccccccaggcataCagccagcctgtccaggggta	10	17	0	0	novel		TCGA-V4-A9EL-01A-11D-A39W-08	TCGA-V4-A9EL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6bf15a15-4a35-4e55-9c10-770fdff09fad	9dc7146a-1ee2-431a-a6b8-b8e9f16417c7	c.258C>G	p.Tyr86Ter	p.Y86*	ENST00000397938	5/17	24	11	13	45			EWSR1,stop_gained,p.Y86*,ENST00000397938,NM_005243.3,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y86*,ENST00000332050,,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y87*,ENST00000629659,,c.261C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y86*,ENST00000331029,,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y86*,ENST00000406548,NM_001163285.1,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y92*,ENST00000414183,NM_013986.3,c.276C>G,HIGH,YES,,,1;EWSR1,stop_gained,p.Y86*,ENST00000332035,NM_001163286.1,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y86*,ENST00000333395,NM_001163287.1,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y87*,ENST00000437155,,c.261C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y86*,ENST00000455726,,c.258C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y92*,ENST00000447973,,c.276C>G,HIGH,,,,1;EWSR1,stop_gained,p.Y93*,ENST00000436425,,c.279C>G,HIGH,,,,1;EWSR1,intron_variant,,ENST00000415761,,c.103-70C>G,MODIFIER,,,,1;EWSR1,downstream_gene_variant,,ENST00000444626,,,MODIFIER,,,,1;EWSR1,non_coding_transcript_exon_variant,,ENST00000479135,,n.2433C>G,MODIFIER,,,,1;EWSR1,non_coding_transcript_exon_variant,,ENST00000483415,,n.282C>G,MODIFIER,,,,1;EWSR1,downstream_gene_variant,,ENST00000493426,,,MODIFIER,,,,1;EWSR1,downstream_gene_variant,,ENST00000485037,,,MODIFIER,,,,1	G	ENST00000397938	Transcript	stop_gained	stop_gained	577/2654	258/1971	86/656	Y/*	taC/taG		1		1	EWSR1	HGNC	HGNC:3508	protein_coding		CCDS13851.1	ENSP00000381031	Q01844		UPI000012A2B1	NM_005243.3			5/17		PROSITE_profiles:PS50322;PROSITE_profiles:PS50325																	HIGH		SNV	1			1											PASS	GCATACAGCCA	bd860e9d-80c8-4296-8e83-c56a74d6731d	68045c4c-6858-4507-8054-549d42612069	e33ecef5-8b55-4acc-aaaa-d71a3063c500	8de236f1-c029-44df-a2a9-319145488baa			True	Unknown	G	4	3	17	29278061	29278061	C	G	1	0	0	0	0	0	1	0	0	5163	489	17	5		5	EWSR1	22	29278061	Nonsense_Mutation	SNP	C	TCGA-V4-A9EL-01A-11D-A39W-08		29278061	21540407	9	248											
MAPKAPK2	9261	BI	GRCh38	chr1	206730727	206730727	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaagtatgacaagtcctGtgacatgtggtccctgggtg	14	7	0	3	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.731G>A	p.Cys244Tyr	p.C244Y	ENST00000367103	6/10	134	53	81	81			MAPKAPK2,missense_variant,p.C244Y,ENST00000367103,NM_032960.3,c.731G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;MAPKAPK2,missense_variant,p.C244Y,ENST00000294981,NM_004759.4,c.731G>A,MODERATE,,deleterious(0),probably_damaging(0.978),1;MAPKAPK2,upstream_gene_variant,,ENST00000479009,,,MODIFIER,,,,1;MAPKAPK2,downstream_gene_variant,,ENST00000493447,,,MODIFIER,,,,1	A	ENST00000367103	Transcript	missense_variant	missense_variant	924/2961	731/1203	244/400	C/Y	tGt/tAt		1		1	MAPKAPK2	HGNC	HGNC:6887	protein_coding	YES	CCDS31001.1	ENSP00000356070	P49137		UPI0000112289	NM_032960.3	deleterious(0)	probably_damaging(0.996)	6/10		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1											PASS	GTCCTGTGACA	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	A	3	1	18	206730727	206730727	G	A	1	0	0	0	0	1	0	0	0	9213	1377	48	3		3	MAPKAPK2	1	206730727	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		206730727	42225695	1	249											
HHAT	55733	BI	GRCh38	chr1	210362859	210362859	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttggtcagaacacgaAgaggagctggaccaggaatt	12	6	1	2	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.99A>T	p.Glu33Asp	p.E33D	ENST00000261458	3/12	95	69	26	53			HHAT,missense_variant,p.E33D,ENST00000367010,NM_001170580.2,c.99A>T,MODERATE,,deleterious(0.01),possibly_damaging(0.818),1;HHAT,missense_variant,p.E33D,ENST00000261458,NM_018194.5,c.99A>T,MODERATE,,deleterious(0.01),possibly_damaging(0.818),1;HHAT,missense_variant,p.E33D,ENST00000413764,NM_001122834.3,c.99A>T,MODERATE,,deleterious(0.01),possibly_damaging(0.818),1;HHAT,missense_variant,p.E34D,ENST00000545154,NM_001170587.2,c.102A>T,MODERATE,YES,deleterious(0.01),unknown(0),1;HHAT,missense_variant,p.E33D,ENST00000537898,NM_001170588.2,c.99A>T,MODERATE,,deleterious(0),possibly_damaging(0.907),1;HHAT,missense_variant,p.E33D,ENST00000541565,NM_001170564.2,c.99A>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.636),1;HHAT,5_prime_UTR_variant,,ENST00000426968,,c.-91A>T,MODIFIER,,,,1	T	ENST00000261458	Transcript	missense_variant	missense_variant	294/3594	99/1482	33/493	E/D	gaA/gaT		1		1	HHAT	HGNC	HGNC:18270	protein_coding		CCDS1495.1	ENSP00000261458	Q5VTY9		UPI000004A086	NM_018194.5	deleterious(0.01)	possibly_damaging(0.818)	3/12		Low_complexity_(Seg):Seg																	MODERATE		SNV	2			1											PASS	CACGAAGAGGA	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	T	3	4	18	210362859	210362859	A	T	1	0	0	0	0	1	0	0	0	6974	69	3	5		5	HHAT	1	210362859	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08	3632132	210362859	38593563	2	250											
EIF1B	10289	BI	GRCh38	chr3	40310921	40310921	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgcaactaagggtgaCgacttactcccggcagggac	13	11	0	2	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.60C>G	p.Asp20Glu	p.D20E	ENST00000232905	2/4	72	48	24	75			EIF1B,missense_variant,p.D20E,ENST00000232905,NM_005875.2,c.60C>G,MODERATE,YES,tolerated(0.11),benign(0.002),1;EIF1B-AS1,upstream_gene_variant,,ENST00000629723,,,MODIFIER,YES,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000625390,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000631175,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000629217,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000628298,,,MODIFIER,,,,-1;ENTPD3-AS1,downstream_gene_variant,,ENST00000439293,,,MODIFIER,,,,-1;EIF1B,non_coding_transcript_exon_variant,,ENST00000462088,,n.280C>G,MODIFIER,,,,1;EIF1B,non_coding_transcript_exon_variant,,ENST00000488260,,n.176C>G,MODIFIER,,,,1;EIF1B,non_coding_transcript_exon_variant,,ENST00000487151,,n.294C>G,MODIFIER,,,,1;EIF1B-AS1,upstream_gene_variant,,ENST00000626073,,,MODIFIER,,,,-1	G	ENST00000232905	Transcript	missense_variant	missense_variant	318/1010	60/342	20/113	D/E	gaC/gaG		1		1	EIF1B	HGNC	HGNC:30792	protein_coding	YES	CCDS2690.1	ENSP00000232905	O60739	Q6FG85	UPI0000003EA1	NM_005875.2	tolerated(0.11)	benign(0.002)	2/4		TIGRFAM_domain:TIGR01160;Superfamily_domains:SSF55159;PIRSF_domain:PIRSF004499																	MODERATE	1	SNV	1			1											PASS	GGTGACGACTT	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	G	3	3	18	40310921	40310921	C	G	1	0	0	0	0	1	0	0	0	4830	535	19	5		5	EIF1B	3	40310921	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		40310921	157984638	3	251											
SETD2	29072	BI	GRCh38	chr3	47062338	47062338	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagcatcccttcctcGttcagttgctaagggaaaag	9	12	1	0			TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.6118C>T	p.Arg2040Ter	p.R2040*	ENST00000409792	14/21	200	114	86	197			SETD2,stop_gained,p.R2040*,ENST00000409792,NM_014159.6,c.6118C>T,HIGH,YES,,,-1;SETD2,non_coding_transcript_exon_variant,,ENST00000492397,,n.568C>T,MODIFIER,,,,-1;SETD2,3_prime_UTR_variant,,ENST00000330022,,c.*1841C>T,MODIFIER,,,,-1;SETD2,3_prime_UTR_variant,,ENST00000431180,,c.*1443C>T,MODIFIER,,,,-1;SETD2,3_prime_UTR_variant,,ENST00000445387,,c.*68C>T,MODIFIER,,,,-1	A	ENST00000409792	Transcript	stop_gained	stop_gained	6161/8142	6118/7695	2040/2564	R/*	Cga/Tga		1		-1	SETD2	HGNC	HGNC:18420	protein_coding	YES	CCDS2749.2	ENSP00000386759	Q9BYW2		UPI00017E10FB	NM_014159.6			14/21																			HIGH	1	SNV	5			1											PASS	TCCTCGTTCAG	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da		COSM4135357;COSM4135358	True	Unknown	A	4	1	18	47062338	47062338	G	A	1	0	0	0	0	0	1	0	0	14409	1153	40	1		1	SETD2	3	47062338	Nonsense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	6751417	47062338	151233221	4	252											
COL25A1	84570	BI	GRCh38	chr4	108901126	108901126	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tatttgtactaaccttaggtCctggtattccattctgtcct	6	10	1	0	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.827G>C	p.Gly276Ala	p.G276A	ENST00000399132	14/38	55	35	20	78			COL25A1,missense_variant,p.G114A,ENST00000622134,,c.341G>C,MODERATE,,deleterious(0.03),probably_damaging(0.998),-1;COL25A1,missense_variant,p.G41A,ENST00000610288,,c.122G>C,MODERATE,,deleterious(0),possibly_damaging(0.78),-1;COL25A1,missense_variant,p.G276A,ENST00000399132,NM_198721.3,c.827G>C,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;COL25A1,missense_variant,p.G276A,ENST00000399126,NM_032518.2,c.827G>C,MODERATE,,deleterious(0.01),probably_damaging(0.999),-1;COL25A1,missense_variant,p.G272A,ENST00000399127,NM_001256074.1,c.815G>C,MODERATE,,,probably_damaging(0.999),-1;COL25A1,missense_variant,p.G204A,ENST00000494183,,c.611G>C,MODERATE,,deleterious(0),probably_damaging(0.957),-1	G	ENST00000399132	Transcript	missense_variant	missense_variant	1358/2724	827/1965	276/654	G/A	gGa/gCa		1		-1	COL25A1	HGNC	HGNC:18603	protein_coding	YES	CCDS43258.1	ENSP00000382083	Q9BXS0		UPI0000225CD2	NM_198721.3	deleterious(0)	probably_damaging(0.998)	14/38		Low_complexity_(Seg):Seg;Pfam_domain:PF01391;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1											PASS	TAGGTCCTGGT	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	G	3	3	18	108901126	108901126	C	G	1	0	0	0	0	1	0	0	0	3472	855	30	5		5	COL25A1	4	108901126	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		108901126	81313429	5	253											
MARCH6	10299	BI	GRCh38	chr5	10426409	10426409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttacgcaaatggcatccGgaacattgaccttcactata	8	10	1	1	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.2393G>A	p.Arg798Gln	p.R798Q	ENST00000274140	24/26	203	132	71	192			MARCH6,missense_variant,p.R798Q,ENST00000274140,NM_005885.3,c.2393G>A,MODERATE,YES,deleterious(0.04),probably_damaging(0.971),1;MARCH6,missense_variant,p.R750Q,ENST00000449913,NM_001270660.1,c.2249G>A,MODERATE,,deleterious(0.04),probably_damaging(0.936),1;MARCH6,missense_variant,p.R693Q,ENST00000503788,NM_001270661.1,c.2078G>A,MODERATE,,deleterious(0.05),probably_damaging(0.975),1;MARCH6,missense_variant,p.R496Q,ENST00000510792,,c.1487G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.743),1;MARCH6,downstream_gene_variant,,ENST00000505253,,,MODIFIER,,,,1;MARCH6,non_coding_transcript_exon_variant,,ENST00000511802,,n.3793G>A,MODIFIER,,,,1;MARCH6,downstream_gene_variant,,ENST00000512449,,,MODIFIER,,,,1	A	ENST00000274140	Transcript	missense_variant	missense_variant	2525/9569	2393/2733	798/910	R/Q	cGg/cAg		1		1	MARCH6	HGNC	HGNC:30550	protein_coding	YES	CCDS34135.1	ENSP00000274140	O60337		UPI00001B94D6	NM_005885.3	deleterious(0.04)	probably_damaging(0.971)	24/26																			MODERATE	1	SNV	1			1											PASS	CATCCGGAACA	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	A	3	1	18	10426409	10426409	G	A	1	0	0	0	0	1	0	0	0	9230	1116	39	2		2	MARCH6	5	10426409	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		10426409	171111850	6	254											
RSPH4A	345895	BI	GRCh38	chr6	116622852	116622852	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttgaaaatattagccaAgatgtgaagatggcacattt	8	5	1	4	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.771A>G	p.=	p.Q257Q	ENST00000229554	2/6	249	182	67	201			RSPH4A,synonymous_variant,p.Q257Q,ENST00000229554,NM_001010892.2,c.771A>G,LOW,YES,,,1;RSPH4A,synonymous_variant,p.Q257Q,ENST00000368581,NM_001161664.1,c.771A>G,LOW,,,,1;RSPH4A,synonymous_variant,p.Q257Q,ENST00000368580,,c.771A>G,LOW,,,,1	G	ENST00000229554	Transcript	synonymous_variant	synonymous_variant	908/2825	771/2151	257/716	Q	caA/caG		1		1	RSPH4A	HGNC	HGNC:21558	protein_coding	YES	CCDS34521.1	ENSP00000229554	Q5TD94			NM_001010892.2			2/6		Pfam_domain:PF04712																	LOW	1	SNV	1			1											PASS	AGCCAAGATGT	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	G	2	3	18	116622852	116622852	A	G	1	0	0	0	0	0	0	0	1	13964	69	3	4		4	RSPH4A	6	116622852	Silent	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		116622852	54183127	7	255											
NBN	4683	BI	GRCh38	chr8	89970529	89970529	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctagcttccccacctccaAagacaactgcggaactcaat	5	16	1	1	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.731T>C	p.Phe244Ser	p.F244S	ENST00000265433	7/16	135	111	24	90			NBN,missense_variant,p.F244S,ENST00000265433,NM_002485.4,c.731T>C,MODERATE,YES,deleterious(0),benign(0.117),-1;NBN,missense_variant,p.F162S,ENST00000409330,,c.485T>C,MODERATE,,deleterious(0),benign(0.117),-1;NBN,missense_variant,p.F162S,ENST00000517772,,c.485T>C,MODERATE,,,,-1;NBN,missense_variant,p.F156S,ENST00000519426,,c.467T>C,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.833),-1;NBN,3_prime_UTR_variant,,ENST00000396252,,c.*604T>C,MODIFIER,,,,-1	G	ENST00000265433	Transcript	missense_variant	missense_variant	886/4666	731/2265	244/754	F/S	tTt/tCt		1		-1	NBN	HGNC	HGNC:7652	protein_coding	YES	CCDS6249.1	ENSP00000265433	O60934		UPI0000073BF4	NM_002485.4	deleterious(0)	benign(0.117)	7/16		PIRSF_domain:PIRSF011869																	MODERATE	1	SNV	1			1											PASS	CTCCAAAGACA	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	G	3	3	18	89970529	89970529	A	G	1	0	0	0	0	1	0	0	0	10202	14	1	4		4	NBN	8	89970529	Missense_Mutation	SNP	A	TCGA-V4-A9EM-01A-11D-A39W-08		89970529	55168107	8	256											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	105	49	56	105			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da		COSM28757	True	Unknown	A	3	1	18	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EM-01A-11D-A39W-08		77794572	60600145	9	257											
NLRP14	338323	BI	GRCh38	chr11	7038749	7038749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtgaagaaggccaggCgggaggacctggccaatttg	16	7	0	3	rs146049510	by1000G;byCluster;byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.163C>T	p.Arg55Trp	p.R55W	ENST00000299481	2/12	35	22	13	66			NLRP14,missense_variant,p.R55W,ENST00000299481,NM_176822.3,c.163C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.997),1	T	ENST00000299481	Transcript	missense_variant	missense_variant	509/3628	163/3282	55/1093	R/W	Cgg/Tgg	rs146049510	1		1	NLRP14	HGNC	HGNC:22939	protein_coding	YES	CCDS7776.1	ENSP00000299481	Q86W24		UPI0000167F6E	NM_176822.3	deleterious(0.02)	probably_damaging(0.997)	2/12		Pfam_domain:PF02758;PROSITE_profiles:PS50824;Superfamily_domains:SSF47986	0.0016	0.0053	0.0014		0	0	0	0.0034	0								MODERATE	1	SNV	5			1	0.0003706	0.0003719	0.003737	0.0003457	0	0	4.504e-05	0	0		panel_of_normals	CCAGGCGGGAG	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da	common_in_exac;gdc_pon		True	Unknown	T	3	4	18	7038749	7038749	C	T	1	0	0	0	0	1	0	0	0	10513	759	27	2		2	NLRP14	11	7038749	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		7038749	128047873	10	258											
VWF	7450	BI	GRCh38	chr12	6019073	6019073	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gctaacgatctcgtccctttGctgctccagctcatccacac	6	17	2	0	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.4345C>G	p.Gln1449Glu	p.Q1449E	ENST00000261405	28/52	58	33	25	58			VWF,missense_variant,p.Q1449E,ENST00000261405,NM_000552.3,c.4345C>G,MODERATE,YES,tolerated(0.07),benign(0.002),-1;VWF,intron_variant,,ENST00000538635,,n.421-25139C>G,MODIFIER,,,,-1;VWF,downstream_gene_variant,,ENST00000539641,,,MODIFIER,,,,-1	C	ENST00000261405	Transcript	missense_variant	missense_variant	4600/8838	4345/8442	1449/2813	Q/E	Caa/Gaa		1		-1	VWF	HGNC	HGNC:12726	protein_coding	YES	CCDS8539.1	ENSP00000261405	P04275		UPI00001AE7EE	NM_000552.3	tolerated(0.07)	benign(0.002)	28/52		Pfam_domain:PF00092;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300;PIRSF_domain:PIRSF002495																	MODERATE	1	SNV	1			1											PASS	CCTTTGCTGCT	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	C	3	2	18	6019073	6019073	G	C	1	0	0	0	0	1	0	0	0	17806	1328	46	5		5	VWF	12	6019073	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08		6019073	127256236	11	259											
ARHGAP17	55114	BI	GRCh38	chr16	24935608	24935608	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctccctggtgctggcacagCtgcagatacagggtccttcg	12	13	1	1	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.1756G>C	p.Ala586Pro	p.A586P	ENST00000289968	18/20	56	31	25	50			ARHGAP17,missense_variant,p.A586P,ENST00000289968,NM_001006634.2,c.1756G>C,MODERATE,YES,tolerated(0.41),benign(0.005),-1;ARHGAP17,missense_variant,p.A508P,ENST00000303665,NM_018054.5,c.1522G>C,MODERATE,,tolerated(0.17),benign(0.009),-1;ARHGAP17,upstream_gene_variant,,ENST00000573765,,,MODIFIER,,,,-1;ARHGAP17,upstream_gene_variant,,ENST00000571843,,,MODIFIER,,,,-1;ARHGAP17,upstream_gene_variant,,ENST00000571406,,,MODIFIER,,,,-1;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000572314,,n.3838G>C,MODIFIER,,,,-1;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000570320,,n.1220G>C,MODIFIER,,,,-1;ARHGAP17,non_coding_transcript_exon_variant,,ENST00000575283,,n.590G>C,MODIFIER,,,,-1	G	ENST00000289968	Transcript	missense_variant	missense_variant	1826/3461	1756/2646	586/881	A/P	Gct/Cct		1		-1	ARHGAP17	HGNC	HGNC:18239	protein_coding	YES	CCDS32409.1	ENSP00000289968	Q68EM7		UPI00000433FD	NM_001006634.2	tolerated(0.41)	benign(0.005)	18/20		Prints_domain:PR01217;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CACAGCTGCAG	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	G	3	3	18	24935608	24935608	C	G	1	0	0	0	0	1	0	0	0	991	797	28	5		5	ARHGAP17	16	24935608	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		24935608	65402737	12	260											
ACD	65057	BI	GRCh38	chr16	67658966	67658966	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcccagtgggtgacagGgggtgctgtgcaagggccct	19	10	0	1	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.865C>G	p.Pro289Ala	p.P289A	ENST00000393919	7/12	105	56	49	96			ACD,missense_variant,p.P289A,ENST00000620338,NM_001082486.1,c.865C>G,MODERATE,YES,tolerated(0.08),benign(0.004),-1;ACD,missense_variant,p.P286A,ENST00000219251,NM_001082487.1&NM_022914.2,c.856C>G,MODERATE,,tolerated(0.08),benign(0.009),-1;ACD,missense_variant,p.P289A,ENST00000393919,,c.865C>G,MODERATE,,tolerated(0.08),benign(0.004),-1;ACD,missense_variant,p.P203A,ENST00000620761,,c.607C>G,MODERATE,,deleterious(0.03),benign(0.004),-1;ACD,missense_variant,p.P200A,ENST00000602320,,c.598C>G,MODERATE,,tolerated(0.08),benign(0.009),-1;ACD,missense_variant,p.P51A,ENST00000602382,,c.149C>G,MODERATE,,deleterious_low_confidence(0.03),benign(0.004),-1;RLTPR,downstream_gene_variant,,ENST00000334583,NM_001013838.1,,MODIFIER,YES,,,1;RLTPR,downstream_gene_variant,,ENST00000545661,,,MODIFIER,,,,1;ENKD1,downstream_gene_variant,,ENST00000243878,NM_032140.1,,MODIFIER,YES,,,-1;ENKD1,downstream_gene_variant,,ENST00000602644,,,MODIFIER,,,,-1;PARD6A,upstream_gene_variant,,ENST00000458121,NM_001037281.1,,MODIFIER,,,,1;PARD6A,upstream_gene_variant,,ENST00000219255,NM_016948.2,,MODIFIER,YES,,,1;PARD6A,upstream_gene_variant,,ENST00000602551,,,MODIFIER,,,,1;ENKD1,downstream_gene_variant,,ENST00000602409,,,MODIFIER,,,,-1;ENKD1,downstream_gene_variant,,ENST00000602415,,,MODIFIER,,,,-1;ACD,3_prime_UTR_variant,,ENST00000602850,,c.*387C>G,MODIFIER,,,,-1;ACD,non_coding_transcript_exon_variant,,ENST00000602622,,n.1225C>G,MODIFIER,,,,-1;ACD,non_coding_transcript_exon_variant,,ENST00000602860,,n.1045C>G,MODIFIER,,,,-1;ACD,non_coding_transcript_exon_variant,,ENST00000602945,,n.677C>G,MODIFIER,,,,-1;PARD6A,upstream_gene_variant,,ENST00000602727,,,MODIFIER,,,,1;ENKD1,downstream_gene_variant,,ENST00000602942,,,MODIFIER,,,,-1;ACD,downstream_gene_variant,,ENST00000602519,,,MODIFIER,,,,-1;RLTPR,downstream_gene_variant,,ENST00000602368,,,MODIFIER,,,,1;ACD,upstream_gene_variant,,ENST00000602656,,,MODIFIER,,,,-1;RLTPR,downstream_gene_variant,,ENST00000602705,,,MODIFIER,,,,1;ACD,downstream_gene_variant,,ENST00000602780,,,MODIFIER,,,,-1;ACD,downstream_gene_variant,,ENST00000602821,,,MODIFIER,,,,-1;RLTPR,downstream_gene_variant,,ENST00000602924,,,MODIFIER,,,,1;ENKD1,downstream_gene_variant,,ENST00000602642,,,MODIFIER,,,,-1;ACD,downstream_gene_variant,,ENST00000602423,,,MODIFIER,,,,-1	C	ENST00000393919	Transcript	missense_variant	missense_variant	1130/1974	865/1635	289/544	P/A	Cct/Gct		1		-1	ACD	HGNC	HGNC:25070	protein_coding		CCDS42181.1	ENSP00000377496	Q96AP0		UPI0000246BB2		tolerated(0.08)	benign(0.004)	7/12																			MODERATE		SNV	1			1											PASS	GACAGGGGGTG	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	C	3	2	18	67658966	67658966	G	C	1	0	0	0	0	1	0	0	0	173	1232	43	5		5	ACD	16	67658966	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	42723358	67658966	22679379	13	261											
SRSF2	6427	BI	GRCh38	chr17	76736864	76736887	+	In_Frame_Del	DEL	GTGTGAGTCCGGGGGGCGGCCGTA	GTGTGAGTCCGGGGGGCGGCCGTA	-													ggcggtccccggcggctgtgGtgtgagtccggggggcggcc					novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.274_297delTACGGCCGCCCCCCGGACTCACAC	p.Tyr92_His99del	p.Y92_H99del	ENST00000359995	1/3	51	37	14	49			SRSF2,inframe_deletion,p.Y92_H99del,ENST00000392485,NM_003016.4,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,YES,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000359995,NM_001195427.1,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000508921,,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000358156,,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000583836,,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;MFSD11,5_prime_UTR_variant,,ENST00000588460,,c.-1488_-1465delTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,YES,,,1;MFSD11,5_prime_UTR_variant,,ENST00000586622,,c.-298_-275delTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;MFSD11,5_prime_UTR_variant,,ENST00000621483,NM_001242534.1,c.-298_-275delTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;MFSD11,5_prime_UTR_variant,,ENST00000591864,,c.-298_-275delTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;RP11-318A15.7,intron_variant,,ENST00000587459,,c.239-1417_239-1394delTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,YES,,,1;MFSD11,upstream_gene_variant,,ENST00000355954,NM_001242536.1&NM_001242537.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000336509,NM_001242533.1&NM_001242535.1&NM_024311.3&NM_001242532.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000593181,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590514,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588783,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000615984,NM_001206983.1&NM_001080510.3&NM_001206984.1,,MODIFIER,YES,,,1;METTL23,downstream_gene_variant,,ENST00000341249,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590393,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586738,NM_001302703.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588822,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000590964,NM_001206987.1&NM_001206985.1&NM_001206986.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588302,NM_001302704.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586752,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000587661,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000592849,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000589977,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588964,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000591571,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588563,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000586689,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586200,,,MODIFIER,,,,1;MIR636,upstream_gene_variant,,ENST00000384825,,,MODIFIER,YES,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000585202,,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H99del,ENST00000452355,,c.274_297delTACGGCCGCCCCCCGGACTCACAC,MODERATE,,,,-1;SRSF2,upstream_gene_variant,,ENST00000582449,,,MODIFIER,,,,-1;SRSF2,upstream_gene_variant,,ENST00000586778,,,MODIFIER,,,,-1;MFSD11,upstream_gene_variant,,ENST00000588768,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588670,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588031,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000589919,,,MODIFIER,,,,-1;METTL23,downstream_gene_variant,,ENST00000589581,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000592676,,,MODIFIER,,,,-1	-	ENST00000359995	Transcript	inframe_deletion	inframe_deletion	488-511/1927	274-297/666	92-99/221	YGRPPDSH/-	TACGGCCGCCCCCCGGACTCACAC/-		1		-1	SRSF2	HGNC	HGNC:10783	protein_coding		CCDS11749.1	ENSP00000353089	Q01130	A0A024R8U5		NM_001195427.1			1/3		PROSITE_profiles:PS50323;PROSITE_profiles:PS50102;Superfamily_domains:SSF54928																	MODERATE		deletion	1			1											PASS	GCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCG	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	-	7	5	18	76736864	76736864	GTGTGAGTCCGGGGGGCGGCCGTA	-	1	0	1	0	1	0	0	0	0	15539	1252	44	0		0	SRSF2	17	76736864	In_Frame_Del	DEL	GTGTGAGTCCGGGGGGCGGCCGTA	TCGA-V4-A9EM-01A-11D-A39W-08		76736864	6520577	14	262											
PCSK4	54760	BI	GRCh38	chr19	1487212	1487212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccgtgcggccgtcgtcctCgggaccccagctggcgctgt	14	17	0	0	rs116422632	by1000G;byCluster;byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.784G>A	p.Glu262Lys	p.E262K	ENST00000300954	7/15	23	10	13	31			PCSK4,missense_variant,p.E262K,ENST00000300954,NM_017573.3,c.784G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.691),-1;REEP6,upstream_gene_variant,,ENST00000233596,NM_138393.1,,MODIFIER,YES,,,1;PCSK4,downstream_gene_variant,,ENST00000588671,,,MODIFIER,,,,-1;PCSK4,non_coding_transcript_exon_variant,,ENST00000587784,,n.551G>A,MODIFIER,,,,-1;PCSK4,downstream_gene_variant,,ENST00000590057,,,MODIFIER,,,,-1;PCSK4,downstream_gene_variant,,ENST00000591687,,,MODIFIER,,,,-1;PCSK4,missense_variant,p.R229Q,ENST00000591201,,c.684G>A,MODERATE,,deleterious_low_confidence(0.01),unknown(0),-1;PCSK4,non_coding_transcript_exon_variant,,ENST00000586616,,n.1020G>A,MODIFIER,,,,-1;PCSK4,non_coding_transcript_exon_variant,,ENST00000441747,,n.951G>A,MODIFIER,,,,-1;PCSK4,non_coding_transcript_exon_variant,,ENST00000588195,,n.754G>A,MODIFIER,,,,-1;REEP6,upstream_gene_variant,,ENST00000591735,,,MODIFIER,,,,1;PCSK4,downstream_gene_variant,,ENST00000614078,,,MODIFIER,,,,-1;PCSK4,upstream_gene_variant,,ENST00000586002,,,MODIFIER,,,,-1;PCSK4,upstream_gene_variant,,ENST00000586074,,,MODIFIER,,,,-1;PCSK4,upstream_gene_variant,,ENST00000591303,,,MODIFIER,,,,-1	T	ENST00000300954	Transcript	missense_variant	missense_variant	846/2661	784/2268	262/755	E/K	Gag/Aag	rs116422632	1		-1	PCSK4	HGNC	HGNC:8746	protein_coding	YES	CCDS12069.2	ENSP00000300954	Q6UW60		UPI000014E136	NM_017573.3	deleterious(0.02)	possibly_damaging(0.691)	7/15		Pfam_domain:PF00082;Superfamily_domains:SSF52743	0.0042	0.0159	0		0	0	0	0.0134	1e-04								MODERATE	1	SNV	1			1	0.001306	0.001354	0.01607	0.0003678	0	0	6.695e-05	0	6.316e-05		panel_of_normals	GTCCTCGGGAC	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da	common_in_exac;gdc_pon		True	Unknown	T	3	4	18	1487212	1487212	C	T	1	0	0	0	0	1	0	0	0	11690	893	31	2		2	PCSK4	19	1487212	Missense_Mutation	SNP	C	TCGA-V4-A9EM-01A-11D-A39W-08		1487212	57130404	15	263											
MAP1S	55201	BI	GRCh38	chr19	17725141	17725142	+	Frame_Shift_Del	DEL	AG	AG	-													ggggagctgctgctacagacAgggggcttctcgcctcacca					rs752646082	byFrequency	TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.396_397delAG	p.Gly134LeufsTer40	p.G134Lfs*40	ENST00000324096	4/7	104	83	21	99			MAP1S,frameshift_variant,p.G134Lfs*40,ENST00000324096,NM_018174.4,c.396_397delAG,HIGH,YES,,,1;MAP1S,frameshift_variant,p.G108Lfs*40,ENST00000544059,,c.318_319delAG,HIGH,,,,1;MAP1S,frameshift_variant,p.G100Lfs*40,ENST00000600186,,c.294_295delAG,HIGH,,,,1;MAP1S,frameshift_variant,p.G134Lfs*40,ENST00000594625,,c.396_397delAG,HIGH,,,,1;MAP1S,intron_variant,,ENST00000597735,,c.351+45_351+46delAG,MODIFIER,,,,1;MAP1S,upstream_gene_variant,,ENST00000597000,,,MODIFIER,,,,1;CTD-3149D2.4,downstream_gene_variant,,ENST00000595363,,,MODIFIER,YES,,,-1;MAP1S,non_coding_transcript_exon_variant,,ENST00000601544,,n.434_435delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000599494,,n.315_316delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000594340,,n.383_384delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000595338,,n.421_422delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000598916,,n.347_348delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000597067,,n.464_465delAG,MODIFIER,,,,1;MAP1S,intron_variant,,ENST00000597681,,n.125-2148_125-2147delAG,MODIFIER,,,,1;MAP1S,upstream_gene_variant,,ENST00000598756,,,MODIFIER,,,,1;MAP1S,3_prime_UTR_variant,,ENST00000594212,,c.*97_*98delAG,MODIFIER,,,,1;MAP1S,3_prime_UTR_variant,,ENST00000594365,,c.*235_*236delAG,MODIFIER,,,,1;MAP1S,non_coding_transcript_exon_variant,,ENST00000598769,,n.490_491delAG,MODIFIER,,,,1;MAP1S,downstream_gene_variant,,ENST00000596637,,,MODIFIER,,,,1;MAP1S,downstream_gene_variant,,ENST00000593593,,,MODIFIER,,,,1;MAP1S,downstream_gene_variant,,ENST00000600608,,,MODIFIER,,,,1	-	ENST00000324096	Transcript	frameshift_variant	frameshift_variant	547-548/3419	396-397/3180	132-133/1059	TG/TX	acAGgg/acgg	rs752646082	1		1	MAP1S	HGNC	HGNC:15715	protein_coding	YES	CCDS32954.1	ENSP00000325313	Q66K74		UPI00002036F9	NM_018174.4			4/7		Low_complexity_(Seg):Seg																	HIGH	1	deletion	1			1	3.295e-05	3.301e-05	0	0	0	0.0001512	4.503e-05	0	0		PASS	ACAGACAGGGGGC	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	-	7	5	18	17725141	17725141	AG	-	1	0	1	0	1	0	0	0	0	9156	175	7	0		0	MAP1S	19	17725141	Frame_Shift_Del	DEL	AG	TCGA-V4-A9EM-01A-11D-A39W-08	16237929	17725141	40892475	16	264											
MYBPC2	4606	BI	GRCh38	chr19	50435823	50435823	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggagcccaccggcGttttcctgaagaagccggac	13	13	0	3	novel		TCGA-V4-A9EM-01A-11D-A39W-08	TCGA-V4-A9EM-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	66011a50-b91f-4e3a-bd35-ae6127ec4ed4	8354dea5-9394-4f7c-8412-b9751136d990	c.157G>C	p.Val53Leu	p.V53L	ENST00000357701	3/28	15	6	9	20			MYBPC2,missense_variant,p.V53L,ENST00000357701,NM_004533.3,c.157G>C,MODERATE,YES,tolerated(1),benign(0.002),1;SPIB,downstream_gene_variant,,ENST00000595883,NM_001244000.1&NM_003121.4,,MODIFIER,YES,,,1;SPIB,downstream_gene_variant,,ENST00000439922,NM_001243998.1,,MODIFIER,,,,1	C	ENST00000357701	Transcript	missense_variant	missense_variant	208/3593	157/3426	53/1141	V/L	Gtt/Ctt		1		1	MYBPC2	HGNC	HGNC:7550	protein_coding	YES	CCDS46152.1	ENSP00000350332	Q14324			NM_004533.3	tolerated(1)	benign(0.002)	3/28		Pfam_domain:PF07679;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	CCGGCGTTTTC	eaaf770d-3a18-4150-929d-abc44f2e39f7	60165b6c-4a94-4d86-802b-fcff7afa83d4	b528f391-02f9-48ad-9cd3-afce5f7ccf19	711eb720-4cb7-48de-9350-5c729bf9f0da			True	Unknown	C	3	2	18	50435823	50435823	G	C	1	0	0	0	0	1	0	0	0	10012	1145	40	5		5	MYBPC2	19	50435823	Missense_Mutation	SNP	G	TCGA-V4-A9EM-01A-11D-A39W-08	32710682	50435823	8181793	17	265											
F5	2153	BI	GRCh38	chr1	169540390	169540390	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaggtaccatgctgcaAtgttgtcaggatctctggag	14	8	2	0	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.4700T>C	p.Ile1567Thr	p.I1567T	ENST00000367797	13/25	63	26	37	104			F5,missense_variant,p.I1572T,ENST00000367796,,c.4715T>C,MODERATE,,tolerated(0.1),probably_damaging(1),-1;F5,missense_variant,p.I1567T,ENST00000367797,NM_000130.4,c.4700T>C,MODERATE,YES,tolerated(0.1),benign(0.379),-1	G	ENST00000367797	Transcript	missense_variant	missense_variant	4902/7024	4700/6675	1567/2224	I/T	aTt/aCt		1		-1	F5	HGNC	HGNC:3542	protein_coding	YES	CCDS1281.1	ENSP00000356771	P12259		UPI000016A8CE	NM_000130.4	tolerated(0.1)	benign(0.379)	13/25																			MODERATE	1	SNV	1			1											PASS	CTGCAATGTTG	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	G	3	3	19	169540390	169540390	A	G	1	0	0	0	0	1	0	0	0	5216	101	4	4		4	F5	1	169540390	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08		169540390	79416032	1	266											
BAP1	8314	BI	GRCh38	chr3	52402604	52402604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgcatcccctcacctTcctgagccagcatggagata	9	15	1	2			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2054A>T	p.Glu685Val	p.E685V	ENST00000460680	16/17	44	1	43	72			BAP1,missense_variant,p.E685V,ENST00000460680,NM_004656.3,c.2054A>T,MODERATE,YES,deleterious(0),probably_damaging(0.987),-1;BAP1,missense_variant,p.E667V,ENST00000296288,,c.2000A>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;BAP1,missense_variant,p.E85V,ENST00000469613,,c.253A>T,MODERATE,,deleterious(0),probably_damaging(0.931),-1;BAP1,missense_variant,p.E209V,ENST00000478368,,c.626A>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,splice_region_variant,,ENST00000466093,,n.727A>T,LOW,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	A	ENST00000460680	Transcript	missense_variant	missense_variant;splice_region_variant	2526/3937	2054/2190	685/729	E/V	gAa/gTa		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3	deleterious(0)	probably_damaging(0.987)	16/17																			MODERATE	1	SNV	1			1											PASS	CACCTTCCTGA	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c		COSM96377	True	Unknown	A	3	1	19	52402604	52402604	T	A	1	0	0	0	0	1	0	0	0	1463	1797	62	5		5	BAP1	3	52402604	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		52402604	145892955	2	267											
SNX4	8723	BI	GRCh38	chr3	125504688	125504688	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatttcttccagttcgtttTtctgcttctgaaacactgat	6	10	3	2	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.198A>C	p.Glu66Asp	p.E66D	ENST00000251775	2/14	22	1	21	56			SNX4,missense_variant,p.E66D,ENST00000251775,NM_003794.3,c.198A>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.651),-1;SNX4,non_coding_transcript_exon_variant,,ENST00000473417,,n.217A>C,MODIFIER,,,,-1;SNX4,missense_variant,p.E19D,ENST00000465505,,c.57A>C,MODERATE,,deleterious(0.04),possibly_damaging(0.519),-1;SNX4,intron_variant,,ENST00000471751,,c.142-6494A>C,MODIFIER,,,,-1	G	ENST00000251775	Transcript	missense_variant	missense_variant	223/2513	198/1353	66/450	E/D	gaA/gaC		1		-1	SNX4	HGNC	HGNC:11175	protein_coding	YES	CCDS3032.1	ENSP00000251775	O95219			NM_003794.3	deleterious(0.01)	possibly_damaging(0.651)	2/14		Pfam_domain:PF00787;PROSITE_profiles:PS50195;SMART_domains:SM00312;Superfamily_domains:SSF64268																	MODERATE	1	SNV	1			1											PASS	CGTTTTTCTGC	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	G	3	3	19	125504688	125504688	T	G	1	0	0	0	0	1	0	0	0	15225	1838	64	5		5	SNX4	3	125504688	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	73102084	125504688	72790871	3	268											
PREX2	80243	BI	GRCh38	chr8	68087794	68087794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttggcccttctgttgtgCatgctgtaggaagaggtagg	15	6	1	1	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2098C>T	p.His700Tyr	p.H700Y	ENST00000288368	19/40	178	129	49	123			PREX2,missense_variant,p.H700Y,ENST00000288368,NM_024870.2,c.2098C>T,MODERATE,YES,tolerated(0.3),probably_damaging(0.994),1;RP11-403D15.2,intron_variant,,ENST00000526901,,n.94-4910G>A,MODIFIER,YES,,,-1;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,,n.2125C>T,MODIFIER,,,,1;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,,n.1809C>T,MODIFIER,,,,1	T	ENST00000288368	Transcript	missense_variant	missense_variant	2375/10750	2098/4821	700/1606	H/Y	Cat/Tat		1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2	tolerated(0.3)	probably_damaging(0.994)	19/40		Low_complexity_(Seg):Seg;Pfam_domain:PF00595;PROSITE_profiles:PS50106;SMART_domains:SM00228;Superfamily_domains:SSF50156																	MODERATE	1	SNV	1			1											PASS	TTGTGCATGCT	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	T	3	4	19	68087794	68087794	C	T	1	0	0	0	0	1	0	0	0	12611	710	25	3		3	PREX2	8	68087794	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		68087794	77050842	4	269											
KIAA0196	9897	BI	GRCh38	chr8	125082453	125082453	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatataaaccccttcattgAgatcatctagatatctagaa	5	8	4	3	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.347T>C	p.Leu116Pro	p.L116P	ENST00000318410	4/29	149	75	74	114			KIAA0196,missense_variant,p.L116P,ENST00000318410,NM_014846.3,c.347T>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;KIAA0196,5_prime_UTR_variant,,ENST00000517845,,c.-98T>C,MODIFIER,,,,-1;KIAA0196,5_prime_UTR_variant,,ENST00000523297,,c.-98T>C,MODIFIER,,,,-1;KIAA0196,non_coding_transcript_exon_variant,,ENST00000521109,,n.525T>C,MODIFIER,,,,-1;KIAA0196,non_coding_transcript_exon_variant,,ENST00000519340,,n.430T>C,MODIFIER,,,,-1;KIAA0196,downstream_gene_variant,,ENST00000523397,,,MODIFIER,,,,-1	G	ENST00000318410	Transcript	missense_variant	missense_variant	697/4187	347/3480	116/1159	L/P	cTc/cCc		1		-1	KIAA0196	HGNC	HGNC:28984	protein_coding	YES	CCDS6355.1	ENSP00000318016	Q12768		UPI000013943B	NM_014846.3	deleterious(0)	probably_damaging(1)	4/29		Pfam_domain:PF10266																	MODERATE	1	SNV	1			1											PASS	CATTGAGATCA	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	G	3	3	19	125082453	125082453	A	G	1	0	0	0	0	1	0	0	0	8077	304	11	4		4	KIAA0196	8	125082453	Missense_Mutation	SNP	A	TCGA-V4-A9EO-01A-12D-A39W-08	56994659	125082453	20056183	5	270											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	75	51	24	101			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c		COSM28758	True	Unknown	G	3	3	19	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08		77794572	60600145	6	271											
PARPBP	55010	BI	GRCh38	chr12	102182553	102182553	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tttttttttgacataggtctCccacacaggtgaataattcg	7	8	1	2	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.1189C>G	p.Pro397Ala	p.P397A	ENST00000327680	9/11	51	29	22	51			PARPBP,missense_variant,p.P397A,ENST00000327680,NM_017915.3,c.1189C>G,MODERATE,YES,deleterious(0.01),probably_damaging(1),1;PARPBP,missense_variant,p.P474A,ENST00000541394,,c.1420C>G,MODERATE,,deleterious(0),probably_damaging(0.996),1;PARPBP,missense_variant,p.P243A,ENST00000417507,,c.727C>G,MODERATE,,tolerated_low_confidence(1),unknown(0),1;PARPBP,missense_variant,p.P316A,ENST00000392911,,c.946C>G,MODERATE,,deleterious(0),probably_damaging(1),1;PARPBP,intron_variant,,ENST00000412715,,c.723-13398C>G,MODIFIER,,,,1;PARPBP,intron_variant,,ENST00000543784,,c.480-13398C>G,MODIFIER,,,,1;PARPBP,intron_variant,,ENST00000535811,,n.55-13398C>G,MODIFIER,,,,1;PARPBP,3_prime_UTR_variant,,ENST00000457614,,c.*503C>G,MODIFIER,,,,1	G	ENST00000327680	Transcript	missense_variant	missense_variant	1234/3014	1189/1740	397/579	P/A	Ccc/Gcc		1		1	PARPBP	HGNC	HGNC:26074	protein_coding	YES	CCDS9090.2	ENSP00000332915	Q9NWS1			NM_017915.3	deleterious(0.01)	probably_damaging(1)	9/11																			MODERATE	1	SNV	2			1											PASS	GGTCTCCCACA	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	G	3	3	19	102182553	102182553	C	G	1	0	0	0	0	1	0	0	0	11547	869	30	5		5	PARPBP	12	102182553	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		102182553	31092756	7	272											
TBX5	6910	BI	GRCh38	chr12	114385488	114385488	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttcctacctttgcattcttGacattctgtgcagctccatg	6	12	2	1	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.743C>G	p.Ser248Ter	p.S248*	ENST00000310346	7/9	105	58	47	114			TBX5,stop_gained,p.S248*,ENST00000310346,NM_000192.3,c.743C>G,HIGH,YES,,,-1;TBX5,stop_gained,p.S198*,ENST00000349716,NM_080717.2,c.593C>G,HIGH,,,,-1;TBX5,stop_gained,p.S248*,ENST00000405440,NM_181486.2,c.743C>G,HIGH,,,,-1;TBX5,stop_gained,p.S248*,ENST00000526441,,c.743C>G,HIGH,,,,-1	C	ENST00000310346	Transcript	stop_gained	stop_gained	1410/3825	743/1557	248/518	S/*	tCa/tGa		1		-1	TBX5	HGNC	HGNC:11604	protein_coding	YES	CCDS9173.1	ENSP00000309913	Q99593		UPI0000136AA2	NM_000192.3			7/9																			HIGH	1	SNV	1			1											PASS	TTCTTGACATT	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	C	4	2	19	114385488	114385488	G	C	1	0	0	0	0	0	1	0	0	16065	1294	45	5		5	TBX5	12	114385488	Nonsense_Mutation	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08	12202935	114385488	18889821	8	273											
KCTD19	146212	BI	GRCh38	chr16	67293637	67293637	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggttggctctggccccttgtCtttcgctccagctccagccc	10	17	2	0	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2125G>A	p.Asp709Asn	p.D709N	ENST00000304372	12/16	106	75	31	96			KCTD19,missense_variant,p.D709N,ENST00000304372,NM_001100915.1,c.2125G>A,MODERATE,YES,tolerated(0.05),benign(0.103),-1;KCTD19,missense_variant,p.D63N,ENST00000562841,,c.187G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.908),-1;PLEKHG4,downstream_gene_variant,,ENST00000360461,NM_001129727.1&NM_015432.3,,MODIFIER,YES,,,1;PLEKHG4,downstream_gene_variant,,ENST00000379344,NM_001129729.1,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000450733,NM_001129731.1,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000427155,NM_001129728.1,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000569875,,,MODIFIER,,,,1;KCTD19,non_coding_transcript_exon_variant,,ENST00000569333,,n.4123G>A,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000570049,,n.3957G>A,MODIFIER,,,,-1;KCTD19,non_coding_transcript_exon_variant,,ENST00000566392,,n.3394G>A,MODIFIER,,,,-1;PLEKHG4,downstream_gene_variant,,ENST00000563969,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000393966,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000562289,,,MODIFIER,,,,1;PLEKHG4,downstream_gene_variant,,ENST00000567136,,,MODIFIER,,,,1	T	ENST00000304372	Transcript	missense_variant	missense_variant	2181/2958	2125/2781	709/926	D/N	Gac/Aac		1		-1	KCTD19	HGNC	HGNC:24753	protein_coding	YES	CCDS42179.1	ENSP00000305702	Q17RG1		UPI00001D7875	NM_001100915.1	tolerated(0.05)	benign(0.103)	12/16		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CTTGTCTTTCG	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	T	3	4	19	67293637	67293637	C	T	1	0	0	0	0	1	0	0	0	8023	913	32	3		3	KCTD19	16	67293637	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		67293637	23044708	9	274											
FANCA	2175	BI	GRCh38	chr16	89764983	89764983	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagaaggaaggtgcaaGggtctccaggaaaggctggc	16	8	2	1	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2685C>G	p.=	p.P895P	ENST00000389301	28/43	49	44	5	68			FANCA,synonymous_variant,p.P895P,ENST00000389301,NM_000135.2,c.2685C>G,LOW,YES,,,-1;FANCA,synonymous_variant,p.P895P,ENST00000568369,NM_001286167.1,c.2685C>G,LOW,,,,-1;FANCA,synonymous_variant,p.P8P,ENST00000567988,,c.22C>G,LOW,,,,-1;FANCA,synonymous_variant,p.P21P,ENST00000561660,,c.62C>G,LOW,,,,-1;FANCA,synonymous_variant,p.P31P,ENST00000563318,,c.91C>G,LOW,,,,-1;FANCA,non_coding_transcript_exon_variant,,ENST00000305699,,n.57C>G,MODIFIER,,,,-1;FANCA,upstream_gene_variant,,ENST00000563510,,,MODIFIER,,,,-1;FANCA,downstream_gene_variant,,ENST00000561667,,,MODIFIER,,,,-1;FANCA,downstream_gene_variant,,ENST00000567205,,,MODIFIER,,,,-1	C	ENST00000389301	Transcript	synonymous_variant	synonymous_variant	2716/5451	2685/4368	895/1455	P	ccC/ccG		1		-1	FANCA	HGNC	HGNC:3582	protein_coding	YES	CCDS32515.1	ENSP00000373952	O15360		UPI0000520A1A	NM_000135.2			28/43																			LOW	1	SNV	1			1											PASS	TGCAAGGGTCT	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	C	2	2	19	89764983	89764983	G	C	1	0	0	0	0	0	0	0	1	5521	987	35	5		5	FANCA	16	89764983	Silent	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08	22471346	89764983	573362	10	275											
MYO15A	51168	BI	GRCh38	chr17	18121670	18121670	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgaggcttttccaggccacCccctgtgccggaaaacccct	9	18	0	0	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2870C>G	p.Pro957Arg	p.P957R	ENST00000205890	2/66	19	12	7	21			MYO15A,missense_variant,p.P957R,ENST00000205890,NM_016239.3,c.2870C>G,MODERATE,YES,,unknown(0),1;MYO15A,missense_variant,p.P957R,ENST00000615845,,c.2870C>G,MODERATE,,,unknown(0),1;MYO15A,non_coding_transcript_exon_variant,,ENST00000583079,,n.2503C>G,MODIFIER,,,,1	G	ENST00000205890	Transcript	missense_variant	missense_variant	3208/11863	2870/10593	957/3530	P/R	cCc/cGc		1		1	MYO15A	HGNC	HGNC:7594	protein_coding	YES	CCDS42271.1	ENSP00000205890	Q9UKN7		UPI0000E59E6E	NM_016239.3		unknown(0)	2/66		PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1											PASS	GCCACCCCCTG	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	G	3	3	19	18121670	18121670	C	G	1	0	0	0	0	1	0	0	0	10063	623	22	5		5	MYO15A	17	18121670	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		18121670	65135771	11	276											
FHOD3	80206	BI	GRCh38	chr18	36372681	36372681	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctcctgtctcgttaggCggggcaagaagcacagcatc	12	11	2	1	rs759696197	byFrequency	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.274C>T	p.Arg92Trp	p.R92W	ENST00000359247	3/24	29	15	14	38			FHOD3,missense_variant,p.R92W,ENST00000257209,NM_025135.3,c.274C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;FHOD3,missense_variant,p.R92W,ENST00000590592,NM_001281740.1,c.274C>T,MODERATE,YES,deleterious(0),probably_damaging(0.981),1;FHOD3,missense_variant,p.R92W,ENST00000359247,NM_001281739.1,c.274C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;FHOD3,splice_region_variant,,ENST00000589114,,n.393C>T,LOW,,,,1	T	ENST00000359247	Transcript	missense_variant	missense_variant;splice_region_variant	274/4518	274/4269	92/1422	R/W	Cgg/Tgg	rs759696197	1		1	FHOD3	HGNC	HGNC:26178	protein_coding		CCDS62419.1	ENSP00000352186	Q2V2M9		UPI0000EE543D	NM_001281739.1	deleterious(0)	probably_damaging(0.988)	3/24																			MODERATE		SNV	1			1	4.942e-05	5.114e-05	0.0001001	0	0	0	3.077e-05	0	0.0001932		PASS	TTAGGCGGGGC	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	T	3	4	19	36372681	36372681	C	T	1	0	0	0	0	1	0	0	0	5748	782	27	2		2	FHOD3	18	36372681	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		36372681	44000604	12	277											
PLEKHG2	64857	BI	GRCh38	chr19	39424416	39424416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcccaggcgacaccctaCcacccttgccatgtcacctc	8	19	1	0	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.3283C>T	p.Pro1095Ser	p.P1095S	ENST00000425673	19/19	39	36	3	68			PLEKHG2,missense_variant,p.P1095S,ENST00000425673,NM_022835.2,c.3283C>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.101),1;PLEKHG2,missense_variant,p.P963S,ENST00000205135,,c.2886C>T,MODERATE,,tolerated_low_confidence(0.05),benign(0.204),1;PLEKHG2,missense_variant,p.P1036S,ENST00000458508,,c.3106C>T,MODERATE,,deleterious_low_confidence(0.02),benign(0.142),1;PLEKHG2,missense_variant,p.T36I,ENST00000598238,,c.106C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.711),1;PLEKHG2,synonymous_variant,p.Y10Y,ENST00000594161,,c.29C>T,LOW,,,,1;PLEKHG2,intron_variant,,ENST00000409797,,c.1678-822C>T,MODIFIER,,,,1;PLEKHG2,intron_variant,,ENST00000600210,,c.255+655C>T,MODIFIER,,,,1;PLEKHG2,intron_variant,,ENST00000596443,,c.292-822C>T,MODIFIER,,,,1;PLEKHG2,upstream_gene_variant,,ENST00000596339,,,MODIFIER,,,,1;PLEKHG2,upstream_gene_variant,,ENST00000594124,,,MODIFIER,,,,1;PLEKHG2,downstream_gene_variant,,ENST00000474449,,,MODIFIER,,,,1;PLEKHG2,downstream_gene_variant,,ENST00000478523,,,MODIFIER,,,,1;PLEKHG2,downstream_gene_variant,,ENST00000594307,,,MODIFIER,,,,1	T	ENST00000425673	Transcript	missense_variant	missense_variant	4133/8132	3283/4161	1095/1386	P/S	Cca/Tca		1		1	PLEKHG2	HGNC	HGNC:29515	protein_coding	YES	CCDS33022.2	ENSP00000392906	Q9H7P9			NM_022835.2	deleterious_low_confidence(0.01)	benign(0.101)	19/19		PROSITE_profiles:PS50099																	MODERATE	1	SNV	2			1											PASS	CCCTACCACCC	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			False	Unknown	T	3	4	19	39424416	39424416	C	T	1	0	0	0	0	1	0	0	0	12162	507	18	3		3	PLEKHG2	19	39424416	Missense_Mutation	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08		39424416	19193200	13	278											
NLRP2	55655	BI	GRCh38	chr19	54982772	54982772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctacataagggtggagggCttcctggaggaggacaggag	17	6	1	0	rs756888601	byFrequency	TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.1074C>T	p.=	p.G358G	ENST00000448584	6/13	28	21	7	32			NLRP2,synonymous_variant,p.G358G,ENST00000543010,NM_001174081.1,c.1074C>T,LOW,YES,,,1;NLRP2,synonymous_variant,p.G358G,ENST00000448584,NM_017852.3,c.1074C>T,LOW,,,,1;NLRP2,synonymous_variant,p.G336G,ENST00000537859,NM_001174082.1,c.1008C>T,LOW,,,,1;NLRP2,synonymous_variant,p.G355G,ENST00000263437,,c.1065C>T,LOW,,,,1;NLRP2,synonymous_variant,p.G336G,ENST00000339757,,c.1008C>T,LOW,,,,1;NLRP2,synonymous_variant,p.G334G,ENST00000391721,,c.1002C>T,LOW,,,,1;NLRP2,synonymous_variant,p.G335G,ENST00000427260,NM_001174083.1,c.1005C>T,LOW,,,,1;NLRP2,upstream_gene_variant,,ENST00000540005,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000588619,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000588107,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000585500,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000397169,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000433772,,,MODIFIER,,,,1;NLRP2,non_coding_transcript_exon_variant,,ENST00000540597,,n.1184C>T,MODIFIER,,,,1;NLRP2,upstream_gene_variant,,ENST00000543277,,,MODIFIER,,,,1;NLRP2,downstream_gene_variant,,ENST00000539848,,,MODIFIER,,,,1;NLRP2,upstream_gene_variant,,ENST00000381637,,,MODIFIER,,,,1	T	ENST00000448584	Transcript	synonymous_variant	synonymous_variant	1216/3573	1074/3189	358/1062	G	ggC/ggT	rs756888601	1		1	NLRP2	HGNC	HGNC:22948	protein_coding		CCDS12913.1	ENSP00000409370	Q9NX02		UPI000004C0CC	NM_017852.3			6/13		Pfam_domain:PF05729;PROSITE_profiles:PS50837;Superfamily_domains:SSF52540																	LOW		SNV	1			1	1.647e-05	1.663e-05	9.779e-05	0	0.0001169	0	0	0	0		PASS	GAGGGCTTCCT	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c		COSM3893506	True	Unknown	T	2	4	19	54982772	54982772	C	T	1	0	0	0	0	0	0	0	1	10514	784	28	3		3	NLRP2	19	54982772	Silent	SNP	C	TCGA-V4-A9EO-01A-12D-A39W-08	15558356	54982772	3634844	14	279											
SOGA1	140710	BI	GRCh38	chr20	36815381	36815381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggaagtcagcacactcGttgtccagacacagccggag	12	13	1	1	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.2061C>T	p.=	p.N687N	ENST00000237536	5/15	24	12	12	28			SOGA1,synonymous_variant,p.N687N,ENST00000237536,NM_080627.2,c.2061C>T,LOW,YES,,,-1;SOGA1,synonymous_variant,p.N449N,ENST00000279034,NM_199181.2,c.1347C>T,LOW,,,,-1;SOGA1,synonymous_variant,p.N301N,ENST00000465671,,c.901C>T,LOW,,,,-1	A	ENST00000237536	Transcript	synonymous_variant	synonymous_variant	2403/14371	2061/4986	687/1661	N	aaC/aaT		1		-1	SOGA1	HGNC	HGNC:16111	protein_coding	YES	CCDS54459.1	ENSP00000237536	O94964			NM_080627.2			5/15																			LOW	1	SNV	5			1											PASS	CACTCGTTGTC	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	A	2	1	19	36815381	36815381	G	A	1	0	0	0	0	0	0	0	1	15244	1136	40	1		1	SOGA1	20	36815381	Silent	SNP	G	TCGA-V4-A9EO-01A-12D-A39W-08		36815381	27628786	15	280											
GMEB2	26205	BI	GRCh38	chr20	63604754	63604754	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctacctaacacggctTccttgagctgggaggaggct	12	12	0	1	novel		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	c.218A>G	p.Glu73Gly	p.E73G	ENST00000266068	2/9	88	57	31	83			GMEB2,missense_variant,p.E73G,ENST00000266068,,c.218A>G,MODERATE,YES,deleterious(0),benign(0.23),-1;GMEB2,missense_variant,p.E73G,ENST00000370077,NM_012384.3,c.218A>G,MODERATE,,deleterious(0),benign(0.23),-1;GMEB2,missense_variant,p.E22G,ENST00000370069,,c.65A>G,MODERATE,,deleterious(0),benign(0.23),-1	C	ENST00000266068	Transcript	missense_variant	missense_variant	697/4559	218/1593	73/530	E/G	gAa/gGa		1		-1	GMEB2	HGNC	HGNC:4371	protein_coding	YES	CCDS13528.1	ENSP00000266068	Q9UKD1		UPI000012B8AD		deleterious(0)	benign(0.23)	2/9																			MODERATE	1	SNV	1			1											PASS	CGGCTTCCTTG	58920e7f-4cdc-4d5f-8119-0ce0837b9250	04b79e3e-70bd-4251-bc84-3c63215be8d1	e1c1922b-300f-4159-a8db-bf740557e423	bcb87378-9f43-45e4-bdf2-f6dfa6ac5b8c			True	Unknown	C	3	2	19	63604754	63604754	T	C	1	0	0	0	0	1	0	0	0	6367	1783	62	4		4	GMEB2	20	63604754	Missense_Mutation	SNP	T	TCGA-V4-A9EO-01A-12D-A39W-08	26789373	63604754	839413	16	281											
FAM212B	55924	BI	GRCh38	chr1	111727789	111727789	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtaagccatcacccaCctccttcatggacatctgca	5	16	3	0	novel		TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.73G>T	p.Val25Leu	p.V25L	ENST00000357260	2/2	36	33	3	45			FAM212B,missense_variant,p.V25L,ENST00000357260,NM_019099.4,c.73G>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.785),-1;FAM212B,missense_variant,p.V10L,ENST00000444059,NM_198926.2,c.28G>T,MODERATE,,deleterious(0.01),possibly_damaging(0.581),-1;FAM212B,missense_variant,p.V25L,ENST00000534365,,c.73G>T,MODERATE,,deleterious(0.01),benign(0.014),-1;FAM212B,missense_variant,p.V34L,ENST00000527621,,c.100G>T,MODERATE,,,,-1;FAM212B,intron_variant,,ENST00000527570,,n.218+11397G>T,MODIFIER,,,,-1	A	ENST00000357260	Transcript	missense_variant	missense_variant	255/5980	73/894	25/297	V/L	Gtg/Ttg		1		-1	FAM212B	HGNC	HGNC:28045	protein_coding	YES	CCDS841.1	ENSP00000349805	Q9NTI7		UPI0000072CD1	NM_019099.4	deleterious(0.01)	possibly_damaging(0.785)	2/2		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	ACCCACCTCCT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2			False	Unknown	A	3	1	20	111727789	111727789	C	A	1	0	0	0	0	1	0	0	0	5399	507	18	5		5	FAM212B	1	111727789	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		111727789	137228633	1	282											
FAM161A	84140	BI	GRCh38	chr2	61839722	61839722	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcctcaaaatcaggagTtgggcacctaaccttgtgtt	10	9	2	0			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.1282A>G	p.Thr428Ala	p.T428A	ENST00000405894	3/6	117	74	43	129			FAM161A,missense_variant,p.T428A,ENST00000404929,NM_001201543.1,c.1282A>G,MODERATE,YES,tolerated(0.14),benign(0.011),-1;FAM161A,missense_variant,p.T428A,ENST00000405894,NM_032180.2,c.1282A>G,MODERATE,,tolerated(0.11),benign(0.029),-1;FAM161A,missense_variant,p.T424A,ENST00000418113,,c.1269A>G,MODERATE,,tolerated(0.15),benign(0.029),-1;FAM161A,3_prime_UTR_variant,,ENST00000456262,,c.*797A>G,MODIFIER,,,,-1;FAM161A,3_prime_UTR_variant,,ENST00000307507,,c.*1292A>G,MODIFIER,,,,-1;FAM161A,upstream_gene_variant,,ENST00000496369,,,MODIFIER,,,,-1;FAM161A,upstream_gene_variant,,ENST00000478494,,,MODIFIER,,,,-1	C	ENST00000405894	Transcript	missense_variant	missense_variant	1384/3684	1282/1983	428/660	T/A	Act/Gct		1		-1	FAM161A	HGNC	HGNC:25808	protein_coding		CCDS42687.2	ENSP00000385893	Q3B820		UPI0000160B77	NM_032180.2	tolerated(0.11)	benign(0.029)	3/6		Pfam_domain:PF10595																	MODERATE		SNV	1			1											PASS	AGGAGTTGGGC	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666723;COSM1666724;COSM1666725	True	Unknown	C	3	2	20	61839722	61839722	T	C	1	0	0	0	0	1	0	0	0	5321	1725	60	4		4	FAM161A	2	61839722	Missense_Mutation	SNP	T	TCGA-V4-A9EQ-01A-11D-A39W-08		61839722	180353807	2	283											
DOCK3	1795	BI	GRCh38	chr3	51380148	51380148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactccctacactttgacGccttccaccaccctctgggt	5	17	1	1			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.5524G>A	p.Ala1842Thr	p.A1842T	ENST00000266037	52/53	12	2	10	31			DOCK3,missense_variant,p.A1842T,ENST00000266037,NM_004947.4,c.5524G>A,MODERATE,YES,tolerated_low_confidence(0.21),benign(0.035),1;MANF,upstream_gene_variant,,ENST00000528157,,,MODIFIER,,,,1;MANF,upstream_gene_variant,,ENST00000627526,NM_006010.4,,MODIFIER,YES,,,1	A	ENST00000266037	Transcript	missense_variant	missense_variant	5547/8755	5524/6093	1842/2030	A/T	Gcc/Acc		1		1	DOCK3	HGNC	HGNC:2989	protein_coding	YES	CCDS46835.1	ENSP00000266037	Q8IZD9		UPI000007412C	NM_004947.4	tolerated_low_confidence(0.21)	benign(0.035)	52/53																			MODERATE	1	SNV	1			1											PASS	TTGACGCCTTC	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666726;COSM1666727	True	Unknown	A	3	1	20	51380148	51380148	G	A	1	0	0	0	0	1	0	0	0	4503	1087	38	2		2	DOCK3	3	51380148	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		51380148	146915411	3	284											
NPHP3	27031	BI	GRCh38	chr3	132692775	132692775	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatagagttccatcagttctGattcactcacaccattgtga	7	10	4	3			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.2354C>T	p.Ser785Leu	p.S785L	ENST00000337331	17/27	16	1	15	45			NPHP3,missense_variant,p.S785L,ENST00000337331,NM_153240.4,c.2354C>T,MODERATE,YES,tolerated(0.13),benign(0.075),-1;NPHP3-ACAD11,3_prime_UTR_variant,,ENST00000471702,,c.*345C>T,MODIFIER,YES,,,-1;NPHP3,3_prime_UTR_variant,,ENST00000465756,,c.*262C>T,MODIFIER,,,,-1;NPHP3,non_coding_transcript_exon_variant,,ENST00000490993,,n.3079C>T,MODIFIER,,,,-1;NPHP3,non_coding_transcript_exon_variant,,ENST00000474871,,n.88C>T,MODIFIER,,,,-1;NPHP3,non_coding_transcript_exon_variant,,ENST00000515289,,n.374C>T,MODIFIER,,,,-1	A	ENST00000337331	Transcript	missense_variant	missense_variant	2441/4362	2354/3993	785/1330	S/L	tCa/tTa		1		-1	NPHP3	HGNC	HGNC:7907	protein_coding	YES	CCDS3078.1	ENSP00000338766	Q7Z494		UPI00001B6B30	NM_153240.4	tolerated(0.13)	benign(0.075)	17/27																			MODERATE	1	SNV	1			1											PASS	GTTCTGATTCA	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666728	True	Unknown	A	3	1	20	132692775	132692775	G	A	1	0	0	0	0	1	0	0	0	10628	1294	45	3		3	NPHP3	3	132692775	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08	81312627	132692775	65602784	4	285											
SH3RF2	153769	BI	GRCh38	chr5	146047819	146047819	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccaggacattccacagcCgtggtcagtctgcctggctc	10	15	3	0	rs770613982	byFrequency	TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.1107C>T	p.=	p.A369A	ENST00000359120	6/10	52	25	27	53			SH3RF2,synonymous_variant,p.A369A,ENST00000511217,,c.1107C>T,LOW,YES,,,1;SH3RF2,synonymous_variant,p.A369A,ENST00000359120,NM_152550.3,c.1107C>T,LOW,,,,1;SH3RF2,non_coding_transcript_exon_variant,,ENST00000509286,,n.234C>T,MODIFIER,,,,1;SH3RF2,upstream_gene_variant,,ENST00000511705,,,MODIFIER,,,,1;SH3RF2,upstream_gene_variant,,ENST00000503848,,,MODIFIER,,,,1	T	ENST00000359120	Transcript	synonymous_variant	synonymous_variant	1329/3027	1107/2190	369/729	A	gcC/gcT	rs770613982	1		1	SH3RF2	HGNC	HGNC:26299	protein_coding		CCDS4280.1	ENSP00000352028	Q8TEC5		UPI0000457366	NM_152550.3			6/10																			LOW		SNV	1			1	2.471e-05	2.473e-05	0	0	0	0.0001514	1.5e-05	0	6.057e-05		PASS	ACAGCCGTGGT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2			True	Unknown	T	2	4	20	146047819	146047819	C	T	1	0	0	0	0	0	0	0	1	14518	639	23	2		2	SH3RF2	5	146047819	Silent	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		146047819	35490440	5	286											
BTNL3	10917	BI	GRCh38	chr5	181005727	181005727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctatgagggtgggaccatctCcttcttcaatacaaatgacc	8	11	3	2			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.1256C>T	p.Ser419Phe	p.S419F	ENST00000342868	8/8	49	24	25	89			BTNL3,missense_variant,p.S419F,ENST00000342868,NM_197975.2,c.1256C>T,MODERATE,YES,deleterious(0.02),possibly_damaging(0.774),1;RNU6-1036P,upstream_gene_variant,,ENST00000383959,,,MODIFIER,YES,,,1	T	ENST00000342868	Transcript	missense_variant	missense_variant	1440/2440	1256/1401	419/466	S/F	tCc/tTc		1		1	BTNL3	HGNC	HGNC:1143	protein_coding	YES	CCDS47358.1	ENSP00000341787	Q6UXE8		UPI00001D69EF	NM_197975.2	deleterious(0.02)	possibly_damaging(0.774)	8/8		Pfam_domain:PF00622;Prints_domain:PR01407;PROSITE_profiles:PS50188;SMART_domains:SM00449;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1											PASS	CATCTCCTTCT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666729	True	Unknown	T	3	4	20	181005727	181005727	C	T	1	0	0	0	0	1	0	0	0	1742	855	30	3		3	BTNL3	5	181005727	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08	34957908	181005727	532532	6	287											
NEDD9	4739	BI	GRCh38	chr6	11213485	11213485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagcttctgttggccaaaGgtctgctgcatcagtccaga	11	10	3	2	novel		TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.255C>T	p.=	p.T85T	ENST00000379446	2/7	57	35	22	99			NEDD9,synonymous_variant,p.T85T,ENST00000379446,NM_006403.3,c.255C>T,LOW,YES,,,-1;NEDD9,synonymous_variant,p.T85T,ENST00000379433,NM_182966.3,c.255C>T,LOW,,,,-1;NEDD9,synonymous_variant,p.T85T,ENST00000504387,NM_001142393.1,c.255C>T,LOW,,,,-1;NEDD9,intron_variant,,ENST00000620854,NM_001271033.1,c.12+19019C>T,MODIFIER,,,,-1;NEDD9,downstream_gene_variant,,ENST00000513989,,,MODIFIER,,,,-1;NEDD9,downstream_gene_variant,,ENST00000508546,,,MODIFIER,,,,-1;NEDD9,downstream_gene_variant,,ENST00000397378,,,MODIFIER,,,,-1;RP3-510L9.1,intron_variant,,ENST00000500636,,n.250+5950G>A,MODIFIER,YES,,,1;NEDD9,3_prime_UTR_variant,,ENST00000448183,,c.*217C>T,MODIFIER,,,,-1	A	ENST00000379446	Transcript	synonymous_variant	synonymous_variant	422/4536	255/2505	85/834	T	acC/acT		1		-1	NEDD9	HGNC	HGNC:7733	protein_coding	YES	CCDS4520.1	ENSP00000368759	Q14511		UPI000000D981	NM_006403.3			2/7		Superfamily_domains:SSF50044																	LOW	1	SNV	1			1											PASS	CCAAAGGTCTG	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2			True	Unknown	A	2	1	20	11213485	11213485	G	A	1	0	0	0	0	0	0	0	1	10341	987	35	3		3	NEDD9	6	11213485	Silent	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		11213485	159592494	7	288											
GSTA4	2941	BI	GRCh38	chr6	52984555	52984555	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttaagaaaggatgcAtgataagcagttccagcaga	11	6	0	3			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.323T>A	p.Met108Lys	p.M108K	ENST00000370959	5/7	103	58	45	116			GSTA4,missense_variant,p.M108K,ENST00000370963,NM_001512.3,c.323T>A,MODERATE,YES,tolerated(0.19),benign(0.046),-1;GSTA4,missense_variant,p.M15K,ENST00000370960,,c.44T>A,MODERATE,,tolerated(0.24),benign(0.046),-1;GSTA4,missense_variant,p.M108K,ENST00000370959,,c.323T>A,MODERATE,,tolerated(0.19),benign(0.046),-1;GSTA4,missense_variant,p.M15K,ENST00000457564,,c.44T>A,MODERATE,,tolerated(0.2),benign(0.046),-1;GSTA4,non_coding_transcript_exon_variant,,ENST00000486559,,n.830T>A,MODIFIER,,,,-1;GSTA4,non_coding_transcript_exon_variant,,ENST00000477599,,n.264T>A,MODIFIER,,,,-1	T	ENST00000370959	Transcript	missense_variant	missense_variant	441/793	323/669	108/222	M/K	aTg/aAg		1		-1	GSTA4	HGNC	HGNC:4629	protein_coding		CCDS4948.1	ENSP00000359998	O15217	A0A024RD58	UPI00001119FD		tolerated(0.19)	benign(0.046)	5/7		Pfam_domain:PF00043;Superfamily_domains:SSF47616																	MODERATE		SNV	5			1											PASS	GATGCATGATA	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666730	True	Unknown	T	3	4	20	52984555	52984555	A	T	1	0	0	0	0	1	0	0	0	6717	217	8	5		5	GSTA4	6	52984555	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	41771070	52984555	117821424	8	289											
VWA5A	4013	BI	GRCh38	chr11	124117792	124117792	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggccttctttgtgttccccAtggatgaagactctgctgtt	10	10	2	2	rs767909087		TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.163A>G	p.Met55Val	p.M55V	ENST00000392748	3/18	80	45	35	129			VWA5A,missense_variant,p.M55V,ENST00000456829,NM_001130142.1,c.163A>G,MODERATE,YES,tolerated(0.11),benign(0.029),1;VWA5A,missense_variant,p.M55V,ENST00000392748,NM_014622.4,c.163A>G,MODERATE,,tolerated(0.11),benign(0.029),1;VWA5A,missense_variant,p.M71V,ENST00000392744,,c.211A>G,MODERATE,,tolerated(0.15),benign(0.013),1;VWA5A,missense_variant,p.M55V,ENST00000449321,,c.163A>G,MODERATE,,tolerated(0.15),benign(0.029),1;VWA5A,missense_variant,p.M55V,ENST00000361352,NM_198315.2,c.163A>G,MODERATE,,tolerated(0.15),benign(0.029),1;VWA5A,non_coding_transcript_exon_variant,,ENST00000533623,,n.180A>G,MODIFIER,,,,1	G	ENST00000392748	Transcript	missense_variant	missense_variant	257/3419	163/2361	55/786	M/V	Atg/Gtg	rs767909087	1		1	VWA5A	HGNC	HGNC:6658	protein_coding		CCDS8444.1	ENSP00000376504	O00534	A0A024R3H3	UPI0000158B80	NM_014622.4	tolerated(0.11)	benign(0.029)	3/18		Pfam_domain:PF08487;SMART_domains:SM00609																	MODERATE		SNV	1			1	8.236e-06	8.236e-06	0	0	0.0001156	0	0	0	0		PASS	TCCCCATGGAT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666732	True	Unknown	G	3	3	20	124117792	124117792	A	G	1	0	0	0	0	1	0	0	0	17796	217	8	4		4	VWA5A	11	124117792	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		124117792	10968830	9	290											
SLC4A1	6521	BI	GRCh38	chr17	44258562	44258562	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggctgcagtccaggaagCcctctagggagtgcagcagc	14	12	1	0			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.938G>T	p.Gly313Val	p.G313V	ENST00000262418	10/20	28	15	13	21			SLC4A1,missense_variant,p.G313V,ENST00000262418,NM_000342.3,c.938G>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.833),-1;SLC4A1,intron_variant,,ENST00000399246,,c.777+700G>T,MODIFIER,,,,-1;SLC4A1,downstream_gene_variant,,ENST00000471005,,,MODIFIER,,,,-1;SLC4A1,non_coding_transcript_exon_variant,,ENST00000497360,,n.1077G>T,MODIFIER,,,,-1;SLC4A1,downstream_gene_variant,,ENST00000498270,,,MODIFIER,,,,-1	A	ENST00000262418	Transcript	missense_variant	missense_variant	1094/4965	938/2736	313/911	G/V	gGc/gTc		1		-1	SLC4A1	HGNC	HGNC:11027	protein_coding	YES	CCDS11481.1	ENSP00000262418	P02730		UPI00000375B8	NM_000342.3	deleterious(0.03)	possibly_damaging(0.833)	10/20		Pfam_domain:PF07565;TIGRFAM_domain:TIGR00834;Superfamily_domains:SSF55804																	MODERATE	1	SNV	1			1											PASS	GGAAGCCCTCT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666733	True	Unknown	A	3	1	20	44258562	44258562	C	A	1	0	0	0	0	1	0	0	0	14927	739	26	5		5	SLC4A1	17	44258562	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		44258562	38998879	10	291											
ABCA6	23460	BI	GRCh38	chr17	69123334	69123334	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttctcaataaccttagcAttagtcctttggtgttggaa	7	8	2	0	novel		TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.1341T>C	p.=	p.N447N	ENST00000284425	10/39	47	32	15	55			ABCA6,synonymous_variant,p.N447N,ENST00000284425,NM_080284.2,c.1341T>C,LOW,YES,,,-1	G	ENST00000284425	Transcript	synonymous_variant	synonymous_variant	1516/5300	1341/4854	447/1617	N	aaT/aaC		1		-1	ABCA6	HGNC	HGNC:36	protein_coding	YES	CCDS11683.1	ENSP00000284425	Q8N139		UPI000013DD9D	NM_080284.2			10/39																			LOW	1	SNV	1			1											PASS	TTAGCATTAGT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2			True	Unknown	G	2	3	20	69123334	69123334	A	G	1	0	0	0	0	0	0	0	1	40	214	8	4		4	ABCA6	17	69123334	Silent	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08	24864772	69123334	14134107	11	292											
MC2R	4158	BI	GRCh38	chr18	13885068	13885068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtccagatgaccgtaaGcaccaccacagtgcggcgca	11	14	0	2			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.451C>T	p.Leu151Phe	p.L151F	ENST00000327606	2/2	39	19	20	55			MC2R,missense_variant,p.L151F,ENST00000327606,NM_000529.2&NM_001291911.1,c.451C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;MC2R,downstream_gene_variant,,ENST00000399821,,,MODIFIER,,,,-1	A	ENST00000327606	Transcript	missense_variant	missense_variant	632/3656	451/894	151/297	L/F	Ctt/Ttt		1		-1	MC2R	HGNC	HGNC:6930	protein_coding	YES	CCDS11869.1	ENSP00000333821	Q01718		UPI00000503E5	NM_000529.2;NM_001291911.1	deleterious(0)	probably_damaging(1)	2/2		Low_complexity_(Seg):Seg;Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10328;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	CGTAAGCACCA	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM1666734	True	Unknown	A	3	1	20	13885068	13885068	G	A	1	0	0	0	0	1	0	0	0	9297	971	34	3		3	MC2R	18	13885068	Missense_Mutation	SNP	G	TCGA-V4-A9EQ-01A-11D-A39W-08		13885068	66488217	12	293											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	60	39	21	91			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM52969	True	Unknown	T	3	4	20	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EQ-01A-11D-A39W-08		3118944	55498672	13	294											
RALGAPA2	57186	BI	GRCh38	chr20	20619368	20619368	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttgtgaaggagtatgtgCgtccccaactggaagatcgt	12	9	0	2			TCGA-V4-A9EQ-01A-11D-A39W-08	TCGA-V4-A9EQ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	da7b9dab-d5d2-42f1-b156-c627cf9f987c	a505db24-f411-4532-9291-41073c0938da	c.1448G>A	p.Arg483His	p.R483H	ENST00000202677	12/40	30	27	3	36			RALGAPA2,missense_variant,p.R300H,ENST00000430436,,c.898G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;RALGAPA2,missense_variant,p.R483H,ENST00000202677,NM_020343.3,c.1448G>A,MODERATE,YES,deleterious(0),probably_damaging(0.978),-1	T	ENST00000202677	Transcript	missense_variant	missense_variant	1456/6152	1448/5622	483/1873	R/H	cGc/cAc		1		-1	RALGAPA2	HGNC	HGNC:16207	protein_coding	YES	CCDS46584.1	ENSP00000202677	Q2PPJ7			NM_020343.3	deleterious(0)	probably_damaging(0.978)	12/40																			MODERATE	1	SNV	5			1											PASS	ATGTGCGTCCC	19d61206-c680-467d-8a10-bbce5cb1c350	23e63c6e-2cf3-4b4d-ad9b-55e9bcdb8424	df3b1bb5-bec0-4e3d-9404-02d9e1f9db5a	a6ff0b7a-1d04-4a64-af43-5011a4487cb2		COSM2705533;COSM2705534	False	Unknown	T	3	4	20	20619368	20619368	C	T	1	0	0	0	0	1	0	0	0	13173	768	27	2		2	RALGAPA2	20	20619368	Missense_Mutation	SNP	C	TCGA-V4-A9EQ-01A-11D-A39W-08		20619368	43824799	14	295											
M1AP	130951	BI	GRCh38	chr2	74615062	74615062	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tactgccagccgcagagaagCaccttgtgatctgaaacacc	9	13	1	3			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.328G>C	p.Ala110Pro	p.A110P	ENST00000290536	3/11	82	40	42	74			M1AP,missense_variant,p.A110P,ENST00000290536,NM_138804.4,c.328G>C,MODERATE,YES,tolerated(0.2),benign(0.246),-1;M1AP,missense_variant,p.A110P,ENST00000536235,NM_001281296.1,c.328G>C,MODERATE,,tolerated(0.2),benign(0.165),-1;M1AP,missense_variant,p.A110P,ENST00000409585,,c.328G>C,MODERATE,,tolerated(0.2),benign(0.165),-1;M1AP,missense_variant,p.A110P,ENST00000421985,,c.328G>C,MODERATE,,tolerated(0.24),benign(0.246),-1;M1AP,non_coding_transcript_exon_variant,,ENST00000478437,,n.416G>C,MODIFIER,,,,-1;M1AP,missense_variant,p.A110P,ENST00000422394,,c.328G>C,MODERATE,,tolerated(0.2),benign(0.43),-1;M1AP,intron_variant,,ENST00000438226,,c.240+24974G>C,MODIFIER,,,,-1;AC005033.6,downstream_gene_variant,,ENST00000428904,,,MODIFIER,YES,,,-1	G	ENST00000290536	Transcript	missense_variant	missense_variant	445/2543	328/1593	110/530	A/P	Gct/Cct		1		-1	M1AP	HGNC	HGNC:25183	protein_coding	YES	CCDS33229.1	ENSP00000290536	Q8TC57		UPI0000072570	NM_138804.4	tolerated(0.2)	benign(0.246)	3/11																			MODERATE	1	SNV	1			1											PASS	AGAAGCACCTT	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666824	True	Unknown	G	3	3	21	74615062	74615062	C	G	1	0	0	0	0	1	0	0	0	9053	710	25	5		5	M1AP	2	74615062	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		74615062	167578467	1	296											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	46	30	16	48			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM255276	True	Unknown	T	3	4	21	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	122787697	197402759	44790770	2	297											
CAP2	10486	BI	GRCh38	chr6	17541090	17541090	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtcccacatctcctaaatCttatccttctcaaaaacatg	2	13	3	0			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.944C>A	p.Ser315Tyr	p.S315Y	ENST00000229922	9/13	95	65	30	80			CAP2,missense_variant,p.S315Y,ENST00000229922,NM_006366.2,c.944C>A,MODERATE,YES,deleterious(0.02),benign(0.396),1;CAP2,missense_variant,p.S232Y,ENST00000616440,,c.695C>A,MODERATE,,deleterious(0.02),probably_damaging(0.946),1;CAP2,missense_variant,p.S232Y,ENST00000611958,,c.695C>A,MODERATE,,deleterious(0.02),benign(0.029),1;CAP2,missense_variant,p.S289Y,ENST00000378990,,c.866C>A,MODERATE,,deleterious(0.02),benign(0.197),1;CAP2,missense_variant,p.S203Y,ENST00000489374,,c.608C>A,MODERATE,,deleterious(0.02),benign(0.032),1;CAP2,missense_variant,p.S251Y,ENST00000465994,,c.752C>A,MODERATE,,deleterious(0.02),benign(0.285),1;CAP2,intron_variant,,ENST00000493172,,c.223-1747C>A,MODIFIER,,,,1;CAP2,3_prime_UTR_variant,,ENST00000479291,,c.*385C>A,MODIFIER,,,,1;CAP2,downstream_gene_variant,,ENST00000476263,,,MODIFIER,,,,1	A	ENST00000229922	Transcript	missense_variant	missense_variant	1476/3316	944/1434	315/477	S/Y	tCt/tAt		1		1	CAP2	HGNC	HGNC:20039	protein_coding	YES	CCDS4539.1	ENSP00000229922	P40123		UPI0000126EC6	NM_006366.2	deleterious(0.02)	benign(0.396)	9/13		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	TAAATCTTATC	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666826	True	Unknown	A	3	1	21	17541090	17541090	C	A	1	0	0	0	0	1	0	0	0	2312	913	32	5		5	CAP2	6	17541090	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		17541090	153264889	3	298											
FOXD4L6	653404	BI	GRCh38	chr9	41127662	41127662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggactggctgcggcgggGcaggggccccaagcagaggg	21	12	0	1	novel		TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.722C>T	p.Ala241Val	p.A241V	ENST00000622588	1/1	17	12	5	114			FOXD4L6,missense_variant,p.A241V,ENST00000622588,NM_001085476.1,c.722C>T,MODERATE,YES,tolerated_low_confidence(0.08),probably_damaging(0.935),-1;CBWD7,downstream_gene_variant,,ENST00000613716,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000377391,NM_001085457.1,,MODIFIER,YES,,,-1;CBWD7,downstream_gene_variant,,ENST00000456520,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000613125,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000617722,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000610358,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000622791,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000457288,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000617917,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000611553,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000486387,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000494538,,,MODIFIER,,,,-1;CBWD7,downstream_gene_variant,,ENST00000382436,,,MODIFIER,,,,-1;RP11-87H9.2,intron_variant,,ENST00000617940,,n.231-67439G>A,MODIFIER,,,,1	A	ENST00000622588	Transcript	missense_variant	missense_variant	802/2034	722/1254	241/417	A/V	gCc/gTc		1		-1	FOXD4L6	HGNC	HGNC:31986	protein_coding	YES	CCDS43826.1	ENSP00000484875	Q3SYB3			NM_001085476.1	tolerated_low_confidence(0.08)	probably_damaging(0.935)	1/1		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099																	MODERATE		SNV				1											PASS	GCGGGGCAGGG	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba			False	Unknown	A	3	1	21	41127662	41127662	G	A	1	0	0	0	0	1	0	0	0	5864	1203	42	3		3	FOXD4L6	9	41127662	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		41127662	97267055	4	299											
TRPM6	140803	BI	GRCh38	chr9	74775925	74775925	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttggtcgtgaggagctcgatGacagcacaggcggcggagga	18	8	0	2			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.3361C>G	p.His1121Asp	p.H1121D	ENST00000360774	24/39	101	73	28	48			TRPM6,missense_variant,p.H1121D,ENST00000360774,NM_017662.4,c.3361C>G,MODERATE,YES,deleterious(0.03),benign(0.104),-1;TRPM6,missense_variant,p.H1116D,ENST00000361255,NM_001177311.1,c.3346C>G,MODERATE,,deleterious(0.03),benign(0.211),-1;TRPM6,missense_variant,p.H1116D,ENST00000449912,NM_001177310.1,c.3346C>G,MODERATE,,deleterious(0.03),benign(0.01),-1	C	ENST00000360774	Transcript	missense_variant	missense_variant	3599/8425	3361/6069	1121/2022	H/D	Cat/Gat		1		-1	TRPM6	HGNC	HGNC:17995	protein_coding	YES	CCDS6647.1	ENSP00000354006	Q9BX84		UPI000006E041	NM_017662.4	deleterious(0.03)	benign(0.104)	24/39																			MODERATE	1	SNV	1			1											PASS	TCGATGACAGC	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666827;COSM1666828	True	Unknown	C	3	2	21	74775925	74775925	G	C	1	0	0	0	0	1	0	0	0	17096	1290	45	5		5	TRPM6	9	74775925	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08	33648263	74775925	63618792	5	300											
GNAQ	2776	BI	GRCh38	chr9	77797577	77797577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatccctgtggtggggactCgaactctaagcacatcttgt	11	10	2	1	rs397514698		TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.548G>A	p.Arg183Gln	p.R183Q	ENST00000286548	4/7	109	46	63	51			GNAQ,missense_variant,p.R183Q,ENST00000286548,NM_002072.4,c.548G>A,MODERATE,YES,deleterious(0.03),probably_damaging(1),-1;GNAQ,missense_variant,p.R154Q,ENST00000411677,,c.461G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.885),-1	T	ENST00000286548	Transcript	missense_variant	missense_variant	771/6539	548/1080	183/359	R/Q	cGa/cAa	rs397514698	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0.03)	probably_damaging(1)	4/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540;Superfamily_domains:SSF47895										pathogenic							MODERATE	1	SNV	1		1	1											PASS	GGACTCGAACT	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM4785077;COSM52975	True	Unknown	T	3	4	21	77797577	77797577	C	T	1	0	0	0	0	1	0	0	0	6389	884	31	2		2	GNAQ	9	77797577	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	3021652	77797577	60597140	6	301											
OR2D3	120775	BI	GRCh38	chr11	6921812	6921812	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcttctatgggtcaGgaatattcacctacatgcga	8	10	4	0			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.811G>A	p.Gly271Arg	p.G271R	ENST00000317834	1/1	98	49	49	79			OR2D3,missense_variant,p.G271R,ENST00000317834,NM_001004684.1,c.811G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.824),1;ZNF215,upstream_gene_variant,,ENST00000278319,NM_013250.2,,MODIFIER,YES,,,1;ZNF215,upstream_gene_variant,,ENST00000414517,,,MODIFIER,,,,1;ZNF215,upstream_gene_variant,,ENST00000610573,,,MODIFIER,,,,1;ZNF215,upstream_gene_variant,,ENST00000527171,,,MODIFIER,,,,1;ZNF215,upstream_gene_variant,,ENST00000529755,,,MODIFIER,,,,1	A	ENST00000317834	Transcript	missense_variant	missense_variant	839/1070	811/993	271/330	G/R	Gga/Aga		1		1	OR2D3	HGNC	HGNC:15146	protein_coding	YES	CCDS31417.1	ENSP00000320560	Q8NGH3		UPI0000041C7D	NM_001004684.1	deleterious(0)	possibly_damaging(0.824)	1/1		Pfam_domain:PF00001;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE		SNV				1											PASS	GGTCAGGAATA	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666829	True	Unknown	A	3	1	21	6921812	6921812	G	A	1	0	0	0	0	1	0	0	0	11074	1001	35	3		3	OR2D3	11	6921812	Missense_Mutation	SNP	G	TCGA-V4-A9ES-01A-11D-A39W-08		6921812	128164810	7	302											
SCNN1A	6337	BI	GRCh38	chr12	6374488	6374488	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaggccgaattgccagTacatcatgccaaaggtgcag	11	10	1	0	novel		TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.296A>G	p.Tyr99Cys	p.Y99C	ENST00000228916	2/13	45	42	3	45			SCNN1A,missense_variant,p.Y158C,ENST00000360168,NM_001159576.1,c.473A>G,MODERATE,YES,tolerated(0.06),probably_damaging(1),-1;SCNN1A,missense_variant,p.Y99C,ENST00000228916,NM_001038.5,c.296A>G,MODERATE,,deleterious(0),probably_damaging(0.912),-1;SCNN1A,missense_variant,p.Y122C,ENST00000543768,NM_001159575.1,c.365A>G,MODERATE,,deleterious(0.03),probably_damaging(1),-1;SCNN1A,missense_variant,p.Y99C,ENST00000396966,,c.296A>G,MODERATE,,tolerated(0.08),probably_damaging(1),-1;SCNN1A,missense_variant,p.Y120C,ENST00000536788,,c.359A>G,MODERATE,,tolerated(0.26),probably_damaging(1),-1;LTBR,upstream_gene_variant,,ENST00000539925,NM_001270987.1,,MODIFIER,,,,1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542260,,n.561A>G,MODIFIER,,,,-1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000544882,,n.300A>G,MODIFIER,,,,-1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000536176,,n.377A>G,MODIFIER,,,,-1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000542436,,n.536A>G,MODIFIER,,,,-1;SCNN1A,non_coding_transcript_exon_variant,,ENST00000543585,,n.432A>G,MODIFIER,,,,-1;SCNN1A,intron_variant,,ENST00000538979,,n.82+865A>G,MODIFIER,,,,-1;LTBR,upstream_gene_variant,,ENST00000546296,,,MODIFIER,,,,1;SCNN1A,downstream_gene_variant,,ENST00000536411,,,MODIFIER,,,,-1;SCNN1A,downstream_gene_variant,,ENST00000545605,,,MODIFIER,,,,-1;SCNN1A,downstream_gene_variant,,ENST00000538957,,,MODIFIER,,,,-1;LTBR,upstream_gene_variant,,ENST00000542830,,,MODIFIER,,,,1;SCNN1A,missense_variant,p.Y99C,ENST00000338748,,c.296A>G,MODERATE,,deleterious(0.01),probably_damaging(1),-1	C	ENST00000228916	Transcript	missense_variant	missense_variant	395/3135	296/2010	99/669	Y/C	tAc/tGc		1		-1	SCNN1A	HGNC	HGNC:10599	protein_coding		CCDS8543.1	ENSP00000228916	P37088		UPI0000000DC4	NM_001038.5	deleterious(0)	probably_damaging(0.912)	2/13		Transmembrane_helices:Tmhmm;Pfam_domain:PF00858;Prints_domain:PR01078;TIGRFAM_domain:TIGR00859																	MODERATE		SNV	1			1											PASS	GCCAGTACATC	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba			False	Unknown	C	3	2	21	6374488	6374488	T	C	1	0	0	0	0	1	0	0	0	14196	1638	57	4		4	SCNN1A	12	6374488	Missense_Mutation	SNP	T	TCGA-V4-A9ES-01A-11D-A39W-08		6374488	126900821	8	303											
CBX5	23468	BI	GRCh38	chr12	54257515	54257515	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggggaaaaaaggaacttactCagaaaagcctttccacttca	8	9	2	1			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.136G>A	p.Glu46Lys	p.E46K	ENST00000209875	2/5	71	44	27	87			CBX5,missense_variant,p.E46K,ENST00000209875,NM_012117.2,c.136G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.685),-1;CBX5,missense_variant,p.E46K,ENST00000439541,NM_001127321.1,c.136G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.685),-1;CBX5,missense_variant,p.E46K,ENST00000550411,NM_001127322.1,c.136G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.685),-1;CBX5,missense_variant,p.E46K,ENST00000552562,,c.136G>A,MODERATE,,deleterious(0),possibly_damaging(0.685),-1;RN7SL390P,upstream_gene_variant,,ENST00000470634,,,MODIFIER,YES,,,-1;CBX5,upstream_gene_variant,,ENST00000547872,,,MODIFIER,,,,-1	T	ENST00000209875	Transcript	missense_variant	missense_variant;splice_region_variant	273/11528	136/576	46/191	E/K	Gag/Aag		1		-1	CBX5	HGNC	HGNC:1555	protein_coding	YES	CCDS8875.1	ENSP00000209875	P45973	V9HWG0	UPI00001271FC	NM_012117.2	deleterious(0.01)	possibly_damaging(0.685)	2/5		Pfam_domain:PF00385;Prints_domain:PR00504;PROSITE_profiles:PS50013;SMART_domains:SM00298;Superfamily_domains:SSF54160																	MODERATE	1	SNV	1			1											PASS	TTACTCAGAAA	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666830	True	Unknown	T	3	4	21	54257515	54257515	C	T	1	0	0	0	0	1	0	0	0	2421	840	29	3		3	CBX5	12	54257515	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08	47883027	54257515	79017794	9	304											
ZNF560	147741	BI	GRCh38	chr19	9467714	9467714	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagatgtaccaaaggcTttaccacattccttacaccc	5	15	0	1			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.1233A>T	p.Lys411Asn	p.K411N	ENST00000301480	10/10	30	15	15	26			ZNF560,missense_variant,p.K411N,ENST00000301480,NM_152476.2,c.1233A>T,MODERATE,YES,tolerated(0.12),probably_damaging(0.937),-1;ZNF560,downstream_gene_variant,,ENST00000585974,,,MODIFIER,,,,-1	A	ENST00000301480	Transcript	missense_variant	missense_variant	1447/2654	1233/2373	411/790	K/N	aaA/aaT		1		-1	ZNF560	HGNC	HGNC:26484	protein_coding	YES	CCDS12214.1	ENSP00000301480	Q96MR9		UPI000013E720	NM_152476.2	tolerated(0.12)	probably_damaging(0.937)	10/10		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	AAGGCTTTACC	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666834	True	Unknown	A	3	1	21	9467714	9467714	T	A	1	0	0	0	0	1	0	0	0	18565	1606	56	5		5	ZNF560	19	9467714	Missense_Mutation	SNP	T	TCGA-V4-A9ES-01A-11D-A39W-08		9467714	49149902	10	305											
DEPDC5	9681	BI	GRCh38	chr22	31819213	31819213	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggcgctggatgcacActtttcctgtgggtaagttg	13	8	0	1			TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.1858A>G	p.Thr620Ala	p.T620A	ENST00000400246	22/43	75	36	39	43			DEPDC5,missense_variant,p.T620A,ENST00000400246,NM_001242896.1,c.1858A>G,MODERATE,YES,tolerated(0.11),probably_damaging(0.997),1;DEPDC5,missense_variant,p.T620A,ENST00000400249,NM_014662.3,c.1858A>G,MODERATE,,tolerated(0.12),probably_damaging(0.997),1;DEPDC5,missense_variant,p.T620A,ENST00000382112,NM_001136029.2,c.1858A>G,MODERATE,,tolerated(0.12),probably_damaging(0.995),1;DEPDC5,missense_variant,p.T620A,ENST00000400248,,c.1858A>G,MODERATE,,tolerated(0.12),probably_damaging(0.997),1;DEPDC5,missense_variant,p.T620A,ENST00000382111,,c.1858A>G,MODERATE,,tolerated(0.22),probably_damaging(0.953),1;DEPDC5,missense_variant,p.T620A,ENST00000535622,NM_001242897.1,c.1858A>G,MODERATE,,tolerated(0.19),probably_damaging(0.993),1;DEPDC5,missense_variant,p.T18A,ENST00000433147,,c.50A>G,MODERATE,,tolerated(0.09),probably_damaging(0.984),1;DEPDC5,downstream_gene_variant,,ENST00000400242,NM_001007188.2,,MODIFIER,,,,1;DEPDC5,missense_variant,p.T50A,ENST00000448753,,c.148A>G,MODERATE,,tolerated(0.23),probably_damaging(0.995),1;CTA-440B3.1,upstream_gene_variant,,ENST00000429025,,,MODIFIER,YES,,,-1	G	ENST00000400246	Transcript	missense_variant	missense_variant	2060/5551	1858/4812	620/1603	T/A	Act/Gct		1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1	tolerated(0.11)	probably_damaging(0.997)	22/43																			MODERATE	1	SNV	1			1											PASS	TGCACACTTTT	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba		COSM1666835;COSM1666836	True	Unknown	G	3	3	21	31819213	31819213	A	G	1	0	0	0	0	1	0	0	0	4248	159	6	4		4	DEPDC5	22	31819213	Missense_Mutation	SNP	A	TCGA-V4-A9ES-01A-11D-A39W-08		31819213	18999255	11	306											
BCOR	54880	BI	GRCh38	chrX	40073194	40073194	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	catgcccaaccccagggcatCttggtaggtcacaaactctg	9	14	3	0	novel		TCGA-V4-A9ES-01A-11D-A39W-08	TCGA-V4-A9ES-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	42a94c23-0879-4887-83c3-2294819819e0	6c8ff4cc-c3c1-4e83-b7fd-ad2577437ba3	c.2152G>C	p.Asp718His	p.D718H	ENST00000378444	4/15	53	25	28	60			BCOR,missense_variant,p.D718H,ENST00000342274,NM_001123383.1,c.2152G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;BCOR,missense_variant,p.D718H,ENST00000378444,NM_001123385.1,c.2152G>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;BCOR,missense_variant,p.D718H,ENST00000378455,NM_001123384.1,c.2152G>C,MODERATE,,deleterious(0),probably_damaging(0.997),-1;BCOR,missense_variant,p.D718H,ENST00000397354,NM_017745.5,c.2152G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;BCOR,missense_variant,p.D718H,ENST00000406200,,c.2152G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;BCOR,missense_variant,p.D125H,ENST00000615339,,c.373G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;BCOR,downstream_gene_variant,,ENST00000412952,,,MODIFIER,,,,-1;BCOR,non_coding_transcript_exon_variant,,ENST00000490976,,n.2192G>C,MODIFIER,,,,-1	G	ENST00000378444	Transcript	missense_variant	missense_variant	2381/6358	2152/5268	718/1755	D/H	Gat/Cat		1		-1	BCOR	HGNC	HGNC:20893	protein_coding	YES	CCDS48093.1	ENSP00000367705	Q6W2J9		UPI00002318CF	NM_001123385.1	deleterious(0)	probably_damaging(0.999)	4/15																			MODERATE	1	SNV	1			1											PASS	GGCATCTTGGT	7005ee2c-7907-4744-804a-345187726fd8	2bb83c94-f797-496d-9b3c-1ba431f5a1ce	a14edb5f-a22c-4b6f-9a9e-48123bb30f5f	c510a423-6ab1-431e-9248-d2ac91fdedba			True	Unknown	G	3	3	21	40073194	40073194	C	G	1	0	0	0	0	1	0	0	0	1533	913	32	5		5	BCOR	23	40073194	Missense_Mutation	SNP	C	TCGA-V4-A9ES-01A-11D-A39W-08		40073194	115967701	12	307											
SLC23A3	151295	BI	GRCh38	chr2	219168687	219168687	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtgaagcagaactgGgctacctccctgtgggcaga	14	10	0	3	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.639C>G	p.=	p.A213A	ENST00000409878	5/12	26	16	10	30			SLC23A3,synonymous_variant,p.A221A,ENST00000455516,NM_001144890.1,c.663C>G,LOW,YES,,,-1;SLC23A3,synonymous_variant,p.A213A,ENST00000295738,NM_144712.4,c.639C>G,LOW,,,,-1;SLC23A3,synonymous_variant,p.A213A,ENST00000409878,NM_001144889.1,c.639C>G,LOW,,,,-1;SLC23A3,synonymous_variant,p.A213A,ENST00000409370,,c.639C>G,LOW,,,,-1;SLC23A3,synonymous_variant,p.A168A,ENST00000430764,,c.504C>G,LOW,,,,-1;CNPPD1,downstream_gene_variant,,ENST00000409789,,,MODIFIER,YES,,,-1;CNPPD1,downstream_gene_variant,,ENST00000360507,NM_015680.4,,MODIFIER,,,,-1;CNPPD1,downstream_gene_variant,,ENST00000453038,,,MODIFIER,,,,-1;CNPPD1,downstream_gene_variant,,ENST00000451647,,,MODIFIER,,,,-1;RP11-33O4.2,3_prime_UTR_variant,,ENST00000318673,,c.*304C>G,MODIFIER,YES,,,-1;SLC23A3,3_prime_UTR_variant,,ENST00000414999,,c.*290C>G,MODIFIER,,,,-1;SLC23A3,non_coding_transcript_exon_variant,,ENST00000497918,,n.619C>G,MODIFIER,,,,-1;SLC23A3,non_coding_transcript_exon_variant,,ENST00000465580,,n.460C>G,MODIFIER,,,,-1;RP11-33O4.2,intron_variant,,ENST00000498327,,n.1479+342C>G,MODIFIER,,,,-1;SLC23A3,downstream_gene_variant,,ENST00000421779,,,MODIFIER,,,,-1;SLC23A3,downstream_gene_variant,,ENST00000461812,,,MODIFIER,,,,-1	C	ENST00000409878	Transcript	synonymous_variant	synonymous_variant	672/2010	639/1833	213/610	A	gcC/gcG		1		-1	SLC23A3	HGNC	HGNC:20601	protein_coding		CCDS46518.1	ENSP00000386473	Q6PIS1			NM_001144889.1			5/12		Pfam_domain:PF00860																	LOW		SNV	2			1											PASS	AACTGGGCTAC	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	C	2	2	22	219168687	219168687	G	C	1	0	0	0	0	0	0	0	1	14730	1219	43	5		5	SLC23A3	2	219168687	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		219168687	23024842	1	308											
USP13	8975	BI	GRCh38	chr3	179730242	179730242	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctttagatccaacacAagatttcaacacacagatgt	5	12	1	3	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.1142A>T	p.Gln381Leu	p.Q381L	ENST00000263966	9/21	82	48	34	127			USP13,missense_variant,p.Q381L,ENST00000263966,NM_003940.2,c.1142A>T,MODERATE,YES,tolerated(0.07),benign(0.312),1;USP13,missense_variant,p.Q316L,ENST00000496897,,c.947A>T,MODERATE,,tolerated(0.06),benign(0.312),1;USP13,missense_variant,p.Q27L,ENST00000497155,,c.80A>T,MODERATE,,tolerated(0.09),benign(0.036),1;USP13,non_coding_transcript_exon_variant,,ENST00000482333,,n.1318A>T,MODIFIER,,,,1	T	ENST00000263966	Transcript	missense_variant	missense_variant	1613/8323	1142/2592	381/863	Q/L	cAa/cTa		1		1	USP13	HGNC	HGNC:12611	protein_coding	YES	CCDS3235.1	ENSP00000263966	Q92995	A0A0A6YZ17	UPI000006DC10	NM_003940.2	tolerated(0.07)	benign(0.312)	9/21		Pfam_domain:PF00443;PROSITE_profiles:PS50235;Superfamily_domains:SSF54001;PIRSF_domain:PIRSF016308																	MODERATE	1	SNV	1			1											PASS	AACACAAGATT	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	T	3	4	22	179730242	179730242	A	T	1	0	0	0	0	1	0	0	0	17578	130	5	5		5	USP13	3	179730242	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08		179730242	18565317	2	309											
PCDHB7	56129	BI	GRCh38	chr5	141174686	141174686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccgggctattcggcgtGtgggcgcacaatggcgaggt	18	10	0	0	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.1851G>A	p.=	p.V617V	ENST00000231137	1/1	137	115	22	167			PCDHB7,synonymous_variant,p.V617V,ENST00000231137,NM_018940.3,c.1851G>A,LOW,YES,,,1;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3,,MODIFIER,YES,,,1;CH17-140K24.2,intron_variant,,ENST00000624192,,n.73-37503C>T,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000625128,,,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000624802,,,MODIFIER,,,,-1;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,,,MODIFIER,YES,,,1	A	ENST00000231137	Transcript	synonymous_variant	synonymous_variant	2068/3765	1851/2382	617/793	V	gtG/gtA		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3			1/1		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	LOW		SNV				1											PASS	GGCGTGTGGGC	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	A	2	1	22	141174686	141174686	G	A	1	0	0	0	0	0	0	0	1	11634	1364	48	3		3	PCDHB7	5	141174686	Silent	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		141174686	40363573	3	310											
CSMD3	114788	BI	GRCh38	chr8	112682591	112682591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgtccccaaaccgccgtGcattgattggtattccagga	10	11	0	1	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.2528C>T	p.Ala843Val	p.A843V	ENST00000297405	16/71	171	139	32	135			CSMD3,missense_variant,p.A843V,ENST00000297405,NM_198123.1,c.2528C>T,MODERATE,YES,deleterious(0),probably_damaging(0.985),-1;CSMD3,missense_variant,p.A803V,ENST00000343508,NM_198124.1,c.2408C>T,MODERATE,,deleterious(0),probably_damaging(0.974),-1;CSMD3,missense_variant,p.A739V,ENST00000455883,NM_052900.2,c.2216C>T,MODERATE,,deleterious(0),benign(0.106),-1;CSMD3,missense_variant,p.A183V,ENST00000339701,,c.548C>T,MODERATE,,deleterious(0),benign(0.386),-1	A	ENST00000297405	Transcript	missense_variant	missense_variant	2773/13212	2528/11124	843/3707	A/V	gCa/gTa		1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	deleterious(0)	probably_damaging(0.985)	16/71		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1											PASS	GCCGTGCATTG	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	A	3	1	22	112682591	112682591	G	A	1	0	0	0	0	1	0	0	0	3747	1319	46	3		3	CSMD3	8	112682591	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		112682591	32456045	4	311											
RABL6	55684	BI	GRCh38	chr9	136839857	136839857	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccggacccaaggagagcaGtgaggaaggtgggtgggggc	22	7	0	2	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.1922G>C	p.Ser641Thr	p.S641T	ENST00000311502	13/15	15	4	11	18			RABL6,missense_variant,p.S435T,ENST00000435930,,c.1304G>C,MODERATE,,deleterious(0.01),unknown(0),1;RABL6,missense_variant,p.S642T,ENST00000371663,NM_001173988.1,c.1925G>C,MODERATE,YES,deleterious_low_confidence(0.01),unknown(0),1;RABL6,missense_variant,p.S641T,ENST00000311502,NM_024718.4,c.1922G>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.184),1;RABL6,intron_variant,,ENST00000432842,,c.*1037+2854G>C,MODIFIER,,,,1;RABL6,intron_variant,,ENST00000357466,,c.1080-628G>C,MODIFIER,,,,1;C9orf172,upstream_gene_variant,,ENST00000436881,NM_001080482.2,,MODIFIER,YES,,,1;RABL6,downstream_gene_variant,,ENST00000629216,,,MODIFIER,,,,1;RABL6,downstream_gene_variant,,ENST00000466096,,,MODIFIER,,,,1;RABL6,downstream_gene_variant,,ENST00000461992,,,MODIFIER,,,,1;RABL6,3_prime_UTR_variant,,ENST00000464941,,c.*300G>C,MODIFIER,,,,1;RABL6,3_prime_UTR_variant,,ENST00000484471,,c.*127G>C,MODIFIER,,,,1	C	ENST00000311502	Transcript	missense_variant	missense_variant	2158/3091	1922/2190	641/729	S/T	aGt/aCt		1		1	RABL6	HGNC	HGNC:24703	protein_coding		CCDS48058.1	ENSP00000311134	Q3YEC7		UPI0000210F94	NM_024718.4	deleterious_low_confidence(0.01)	benign(0.184)	13/15		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1											PASS	GAGCAGTGAGG	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	C	3	2	22	136839857	136839857	G	C	1	0	0	0	0	1	0	0	0	13132	1029	36	5		5	RABL6	9	136839857	Missense_Mutation	SNP	G	TCGA-V4-A9ET-01A-11D-A39W-08		136839857	1554860	5	312											
LRRTM3	347731	BI	GRCh38	chr10	66927873	66927873	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atatgggaatgcagcagaaaTatttgctcccttgtaaactg	9	7	0	1	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.957T>A	p.Asn319Lys	p.N319K	ENST00000361320	2/3	72	58	14	88			LRRTM3,missense_variant,p.N319K,ENST00000361320,NM_178011.3,c.957T>A,MODERATE,YES,tolerated(0.49),benign(0.015),1;CTNNA3,intron_variant,,ENST00000433211,NM_001127384.1&NM_013266.2,c.1048-152349A>T,MODIFIER,YES,,,-1;CTNNA3,intron_variant,,ENST00000494580,,c.128-152349A>T,MODIFIER,,,,-1	A	ENST00000361320	Transcript	missense_variant	missense_variant	1535/4358	957/1746	319/581	N/K	aaT/aaA		1		1	LRRTM3	HGNC	HGNC:19410	protein_coding	YES	CCDS7270.1	ENSP00000355187	Q86VH5		UPI0000088C0F	NM_178011.3	tolerated(0.49)	benign(0.015)	2/3		Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1											PASS	AGAAATATTTG	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	A	3	1	22	66927873	66927873	T	A	1	0	0	0	0	1	0	0	0	8947	1403	49	5		5	LRRTM3	10	66927873	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08		66927873	66869549	6	313											
PYROXD2	84795	BI	GRCh38	chr10	98387300	98387300	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatagacctcgatgcaAtcaaacactggggtgccaaa	12	10	1	1	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.1455T>C	p.=	p.D485D	ENST00000370575	14/16	43	24	19	64			PYROXD2,synonymous_variant,p.D485D,ENST00000370575,NM_032709.2,c.1455T>C,LOW,YES,,,-1;PYROXD2,non_coding_transcript_exon_variant,,ENST00000483923,,n.2341T>C,MODIFIER,,,,-1;PYROXD2,non_coding_transcript_exon_variant,,ENST00000464808,,n.311T>C,MODIFIER,,,,-1	G	ENST00000370575	Transcript	synonymous_variant	synonymous_variant	1504/2028	1455/1746	485/581	D	gaT/gaC		1		-1	PYROXD2	HGNC	HGNC:23517	protein_coding	YES	CCDS7474.1	ENSP00000359607	Q8N2H3		UPI000013CA6A	NM_032709.2			14/16																			LOW	1	SNV	1			1											PASS	ATGCAATCAAA	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	G	2	3	22	98387300	98387300	A	G	1	0	0	0	0	0	0	0	1	13022	98	4	4		4	PYROXD2	10	98387300	Silent	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08	31459427	98387300	35410122	7	314											
BLOC1S6	26258	BI	GRCh38	chr15	45592274	45592274	+	Splice_Region	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaacaagccctccaggaactCacgtaagctaataaaaaacc	5	12	1	0	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.222C>T	p.=	p.L74L	ENST00000220531	2/5	54	28	26	62			BLOC1S6,splice_region_variant,p.L74L,ENST00000220531,NM_012388.2,c.222C>T,LOW,YES,,,1;BLOC1S6,splice_region_variant,,ENST00000568816,,c.-244C>T,LOW,,,,1;BLOC1S6,splice_region_variant,p.L74L,ENST00000566753,,c.222C>T,LOW,,,,1;BLOC1S6,splice_region_variant,,ENST00000564765,,c.-70C>T,LOW,,,,1;BLOC1S6,splice_region_variant,p.L79L,ENST00000565323,,c.237C>T,LOW,,,,1;BLOC1S6,splice_region_variant,,ENST00000565409,,c.-70C>T,LOW,,,,1;RP11-96O20.4,intron_variant,,ENST00000564080,,c.-18+4749C>T,MODIFIER,YES,,,1;BLOC1S6,intron_variant,,ENST00000567461,,c.-68+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000565216,,c.82+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000569076,,c.-44+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000562384,,c.-80+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000566801,,c.-68+4478C>T,MODIFIER,,,,1;Y_RNA,downstream_gene_variant,,ENST00000363549,,,MODIFIER,YES,,,1;BLOC1S6,splice_region_variant,,ENST00000563160,,n.191C>T,LOW,,,,1;BLOC1S6,intron_variant,,ENST00000567740,,n.312+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000563000,,n.237+4478C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000565727,,n.105+4398C>T,MODIFIER,,,,1;BLOC1S6,splice_region_variant,p.L74L,ENST00000567523,,c.222C>T,LOW,,,,1;BLOC1S6,splice_region_variant,p.L51L,ENST00000564310,,c.151C>T,LOW,,,,1;BLOC1S6,splice_region_variant,p.L74L,ENST00000568597,,c.222C>T,LOW,,,,1;BLOC1S6,intron_variant,,ENST00000566184,,n.147+4749C>T,MODIFIER,,,,1;BLOC1S6,intron_variant,,ENST00000568963,,c.82+4749C>T,MODIFIER,,,,1	T	ENST00000220531	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	543/4037	222/519	74/172	L	ctC/ctT		1		1	BLOC1S6	HGNC	HGNC:8549	protein_coding	YES	CCDS10126.1	ENSP00000220531	Q9UL45		UPI000004A0B2	NM_012388.2			2/5		PIRSF_domain:PIRSF037609																	LOW	1	SNV	1			1											PASS	GAACTCACGTA	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			True	Unknown	T	5	4	22	45592274	45592274	C	T	1	0	0	0	0	0	0	1	0	1605	840	29	3		3	BLOC1S6	15	45592274	Splice_Region	SNP	C	TCGA-V4-A9ET-01A-11D-A39W-08		45592274	56398915	8	315											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	61	35	26	71			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5		COSM52969	True	Unknown	T	3	4	22	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9ET-01A-11D-A39W-08		3118944	55498672	9	316											
ZNF491	126069	BI	GRCh38	chr19	11806107	11806107	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgggatattcatccTttaataggaacatcagaact	6	8	4	1	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.154T>A	p.Phe52Ile	p.F52I	ENST00000323169	3/3	89	86	3	120			ZNF491,missense_variant,p.F52I,ENST00000323169,NM_152356.3,c.154T>A,MODERATE,YES,deleterious(0.03),benign(0.008),1;ZNF491,missense_variant,p.F52I,ENST00000450087,,c.154T>A,MODERATE,,deleterious(0.04),benign(0.008),1;ZNF491,intron_variant,,ENST00000492230,,n.266+1440T>A,MODIFIER,,,,1	A	ENST00000323169	Transcript	missense_variant	missense_variant	485/2471	154/1314	52/437	F/I	Ttt/Att		1		1	ZNF491	HGNC	HGNC:23706	protein_coding	YES	CCDS12267.1	ENSP00000313443	Q8N8L2		UPI000006D12C	NM_152356.3	deleterious(0.03)	benign(0.008)	3/3		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	MODERATE	1	SNV	3			1											PASS	CATCCTTTAAT	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			False	Unknown	A	3	1	22	11806107	11806107	T	A	1	0	0	0	0	1	0	0	0	18515	1609	56	5		5	ZNF491	19	11806107	Missense_Mutation	SNP	T	TCGA-V4-A9ET-01A-11D-A39W-08	8687163	11806107	46811509	10	317											
STRN4	29888	BI	GRCh38	chr19	46727975	46727975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccacatcccgcaggtcagCcagaatgccttggagtttga	10	12	1	2	novel		TCGA-V4-A9ET-01A-11D-A39W-08	TCGA-V4-A9ET-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bac54523-301a-4579-9f9a-bda77fe3b899	d4ed9f84-a58c-41fd-bd48-8d9fcff1ea71	c.1072G>T	p.Ala358Ser	p.A358S	ENST00000263280	8/18	17	16	1	16			STRN4,missense_variant,p.A358S,ENST00000391910,NM_001039877.1,c.1072G>T,MODERATE,YES,tolerated(0.27),probably_damaging(0.994),-1;STRN4,missense_variant,p.A358S,ENST00000263280,NM_013403.2,c.1072G>T,MODERATE,,tolerated(0.29),probably_damaging(0.97),-1;STRN4,missense_variant,p.A239S,ENST00000539396,,c.715G>T,MODERATE,,tolerated(0.3),probably_damaging(0.97),-1;STRN4,upstream_gene_variant,,ENST00000594287,,,MODIFIER,,,,-1;STRN4,upstream_gene_variant,,ENST00000600615,,,MODIFIER,,,,-1;STRN4,downstream_gene_variant,,ENST00000593979,,,MODIFIER,,,,-1;CTB-174O21.2,upstream_gene_variant,,ENST00000600716,,,MODIFIER,YES,,,1;STRN4,non_coding_transcript_exon_variant,,ENST00000594357,,n.140G>T,MODIFIER,,,,-1;STRN4,non_coding_transcript_exon_variant,,ENST00000602223,,n.65G>T,MODIFIER,,,,-1;STRN4,downstream_gene_variant,,ENST00000602397,,,MODIFIER,,,,-1;STRN4,downstream_gene_variant,,ENST00000596016,,,MODIFIER,,,,-1;STRN4,missense_variant,p.A208S,ENST00000600358,,c.621G>T,MODERATE,,,probably_damaging(0.996),-1;STRN4,3_prime_UTR_variant,,ENST00000435164,,c.*60G>T,MODIFIER,,,,-1;STRN4,non_coding_transcript_exon_variant,,ENST00000595357,,n.319G>T,MODIFIER,,,,-1;STRN4,non_coding_transcript_exon_variant,,ENST00000601631,,n.341G>T,MODIFIER,,,,-1;STRN4,non_coding_transcript_exon_variant,,ENST00000594847,,n.746G>T,MODIFIER,,,,-1;STRN4,non_coding_transcript_exon_variant,,ENST00000599231,,n.393G>T,MODIFIER,,,,-1;STRN4,upstream_gene_variant,,ENST00000594581,,,MODIFIER,,,,-1;STRN4,downstream_gene_variant,,ENST00000594704,,,MODIFIER,,,,-1;STRN4,upstream_gene_variant,,ENST00000598074,,,MODIFIER,,,,-1	A	ENST00000263280	Transcript	missense_variant	missense_variant	1122/3210	1072/2262	358/753	A/S	Gct/Tct		1		-1	STRN4	HGNC	HGNC:15721	protein_coding		CCDS12690.1	ENSP00000263280	Q9NRL3		UPI000006E0E6	NM_013403.2	tolerated(0.29)	probably_damaging(0.97)	8/18																			MODERATE		SNV	1			1											PASS	GTCAGCCAGAA	b5a56256-039e-4797-8102-4915132d6985	b89eea94-b74b-4834-b152-620f125f282b	634f8e35-711d-4b83-948e-2be348fc13d0	5383fb57-69c2-4b34-af7f-c67208efb2b5			False	Unknown	A	3	1	22	46727975	46727975	C	A	1	0	0	0	0	1	0	0	0	15714	739	26	5		5	STRN4	19	46727975	Missense_Mutation	SNP	C	TCGA-V4-A9ET-01A-11D-A39W-08	34921868	46727975	11889641	11	318											
PHC2	1912	BI	GRCh38	chr1	33354950	33354950	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggcccagtatcaggtGtgggagggtgacactgctga	16	8	2	3	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.1280C>A	p.Thr427Lys	p.T427K	ENST00000257118	7/14	42	39	3	27			PHC2,missense_variant,p.T427K,ENST00000257118,NM_198040.2,c.1280C>A,MODERATE,YES,deleterious(0.02),benign(0.06),-1;PHC2,missense_variant,p.T398K,ENST00000431992,,c.1193C>A,MODERATE,,deleterious(0.02),benign(0.087),-1;PHC2,missense_variant,p.T32K,ENST00000373422,,c.95C>A,MODERATE,,deleterious_low_confidence(0.05),benign(0.027),-1;RP11-415J8.5,intron_variant,,ENST00000432703,,n.97-3911G>T,MODIFIER,YES,,,1;PHC2,upstream_gene_variant,,ENST00000459964,,,MODIFIER,,,,-1	T	ENST00000257118	Transcript	missense_variant	missense_variant	1334/3870	1280/2577	427/858	T/K	aCa/aAa		1		-1	PHC2	HGNC	HGNC:3183	protein_coding	YES	CCDS378.1	ENSP00000257118	Q8IXK0		UPI0000074391	NM_198040.2	deleterious(0.02)	benign(0.06)	7/14		PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CAGGTGTGGGA	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			False	Unknown	T	3	4	23	33354950	33354950	G	T	1	0	0	0	0	1	0	0	0	11906	1377	48	5		5	PHC2	1	33354950	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		33354950	215601472	1	319											
MACF1	23499	BI	GRCh38	chr1	39333168	39333168	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggatctcacataaaaCcccaaagcaaaaagttacaa	6	10	1	0	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.6595C>G	p.Pro2199Ala	p.P2199A	ENST00000372915	36/97	40	22	18	44			MACF1,missense_variant,p.P2194A,ENST00000564288,,c.6580C>G,MODERATE,,,unknown(0),1;MACF1,missense_variant,p.P2231A,ENST00000567887,,c.6691C>G,MODERATE,,,possibly_damaging(0.728),1;MACF1,missense_variant,p.P2199A,ENST00000372915,,c.6595C>G,MODERATE,,,benign(0.008),1;MACF1,missense_variant,p.P634A,ENST00000289893,,c.1900C>G,MODERATE,,,benign(0.006),1;MACF1,intron_variant,,ENST00000361689,NM_012090.5,c.4629+5815C>G,MODIFIER,YES,,,1;MACF1,intron_variant,,ENST00000372925,,c.2029+5815C>G,MODIFIER,,,,1;MACF1,intron_variant,,ENST00000530262,,c.5076+5815C>G,MODIFIER,,,,1;MACF1,intron_variant,,ENST00000476350,,n.2029+5815C>G,MODIFIER,,,,1;MACF1,downstream_gene_variant,,ENST00000528611,,,MODIFIER,,,,1	G	ENST00000372915	Transcript	missense_variant	missense_variant	6682/23440	6595/22167	2199/7388	P/A	Ccc/Gcc		1		1	MACF1	HGNC	HGNC:13664	protein_coding			ENSP00000362006	Q9UPN3		UPI0001F78894			benign(0.008)	36/97		Superfamily_domains:SSF48726;Superfamily_domains:SSF53098																	MODERATE		SNV	5			1											PASS	TAAAACCCCAA	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	G	3	3	23	39333168	39333168	C	G	1	0	0	0	0	1	0	0	0	9060	507	18	5		5	MACF1	1	39333168	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08	5978218	39333168	209623254	2	320											
NME7	29922	BI	GRCh38	chr1	169287330	169287330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatggggtttaacaaTgcaacaggtacaattagtaa	10	6	0	0	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.727A>G	p.Ile243Val	p.I243V	ENST00000367811	7/12	210	110	100	210			NME7,missense_variant,p.I243V,ENST00000367811,NM_013330.4,c.727A>G,MODERATE,YES,tolerated(0.37),benign(0.009),-1;NME7,missense_variant,p.I207V,ENST00000472647,NM_197972.2,c.619A>G,MODERATE,,tolerated(0.37),benign(0.009),-1;NME7,non_coding_transcript_exon_variant,,ENST00000469474,,n.742A>G,MODIFIER,,,,-1;NME7,non_coding_transcript_exon_variant,,ENST00000480478,,n.539A>G,MODIFIER,,,,-1;NME7,intron_variant,,ENST00000483228,,n.361+11226A>G,MODIFIER,,,,-1;NME7,missense_variant,p.I243V,ENST00000525440,,c.727A>G,MODERATE,,tolerated(0.43),benign(0.072),-1;NME7,missense_variant,p.I243V,ENST00000528517,,c.727A>G,MODERATE,,tolerated(0.42),benign(0.003),-1;NME7,non_coding_transcript_exon_variant,,ENST00000524967,,n.789A>G,MODIFIER,,,,-1	C	ENST00000367811	Transcript	missense_variant	missense_variant	984/1642	727/1131	243/376	I/V	Att/Gtt		1		-1	NME7	HGNC	HGNC:20461	protein_coding	YES	CCDS1277.1	ENSP00000356785	Q9Y5B8		UPI000012FE8C	NM_013330.4	tolerated(0.37)	benign(0.009)	7/12		Pfam_domain:PF00334;SMART_domains:SM00562;Superfamily_domains:SSF54919;PIRSF_domain:PIRSF036503																	MODERATE	1	SNV	1			1											PASS	AACAATGCAAC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	C	3	2	23	169287330	169287330	T	C	1	0	0	0	0	1	0	0	0	10533	1464	51	4		4	NME7	1	169287330	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08	129954162	169287330	79669092	3	321											
HHIPL2	79802	BI	GRCh38	chr1	222547955	222547955	+	Silent	SNP	T	T	G													cccacctggcccaacaagaaTatgaggcagaggcagagaat					novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.90A>C	p.=	p.I30I	ENST00000343410	1/9	36	33	3	22			HHIPL2,synonymous_variant,p.I30I,ENST00000343410,NM_024746.3,c.90A>C,LOW,YES,,,-1	G	ENST00000343410	Transcript	synonymous_variant	synonymous_variant	149/2575	90/2175	30/724	I	atA/atC		1		-1	HHIPL2	HGNC	HGNC:25842	protein_coding	YES	CCDS1530.2	ENSP00000342118	Q6UWX4		UPI000004C60D	NM_024746.3			1/9		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm;Cleavage_site_(Signalp):Sigp																	LOW	1	SNV	1			1											PASS	AAGAATATGAG	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			False	Unknown	G	2	3	23	222547955	222547955	T	G	1	0	0	0	0	0	0	0	1	6979	1396	49	5		5	HHIPL2	1	222547955	Silent	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08	53260625	222547955	26408467	4	322	6	2									
HHIPL2	79802	BI	GRCh38	chr1	222547957	222547957	+	Missense_Mutation	SNP	T	T	A													cacctggcccaacaagaataTgaggcagaggcagagaatgc					novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.88A>T	p.Ile30Leu	p.I30L	ENST00000343410	1/9	35	32	3	24			HHIPL2,missense_variant,p.I30L,ENST00000343410,NM_024746.3,c.88A>T,MODERATE,YES,tolerated(0.52),benign(0),-1	A	ENST00000343410	Transcript	missense_variant	missense_variant	147/2575	88/2175	30/724	I/L	Ata/Tta		1		-1	HHIPL2	HGNC	HGNC:25842	protein_coding	YES	CCDS1530.2	ENSP00000342118	Q6UWX4		UPI000004C60D	NM_024746.3	tolerated(0.52)	benign(0)	1/9		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm;Cleavage_site_(Signalp):Sigp																	MODERATE	1	SNV	1			1											PASS	GAATATGAGGC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			False	Unknown	A	3	1	23	222547957	222547957	T	A	1	0	0	0	0	1	0	0	0	6979	1464	51	5		5	HHIPL2	1	222547957	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08	2	222547957	26408465	5	323	6	2									
TTLL4	9654	BI	GRCh38	chr2	218739079	218739079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagccaacgtggccacccGcctctcttccatccagctgg	8	18	1	0	rs761668602		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.1403G>A	p.Arg468His	p.R468H	ENST00000258398	1/18	42	17	25	33			TTLL4,missense_variant,p.R468H,ENST00000392102,NM_014640.4,c.1403G>A,MODERATE,YES,tolerated(0.2),benign(0.007),1;TTLL4,missense_variant,p.R468H,ENST00000258398,,c.1403G>A,MODERATE,,tolerated(0.2),benign(0.007),1;TTLL4,missense_variant,p.R468H,ENST00000442769,,c.1403G>A,MODERATE,,tolerated(0.21),benign(0.003),1;TTLL4,missense_variant,p.R303H,ENST00000457313,,c.908G>A,MODERATE,,tolerated(0.2),benign(0.004),1;TTLL4,downstream_gene_variant,,ENST00000437755,,,MODIFIER,,,,1;TTLL4,downstream_gene_variant,,ENST00000415717,,,MODIFIER,,,,1;TTLL4,downstream_gene_variant,,ENST00000424644,,,MODIFIER,,,,1	A	ENST00000258398	Transcript	missense_variant	missense_variant	1506/4730	1403/3600	468/1199	R/H	cGc/cAc	rs761668602	1		1	TTLL4	HGNC	HGNC:28976	protein_coding		CCDS2422.1	ENSP00000258398	Q14679	A0A024R424			tolerated(0.2)	benign(0.007)	1/18																			MODERATE		SNV	1			1	8.242e-06	8.356e-06	0	0	0.000116	0	0	0	0		PASS	CACCCGCCTCT	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae		COSM270423	True	Unknown	A	3	1	23	218739079	218739079	G	A	1	0	0	0	0	1	0	0	0	17240	1087	38	2		2	TTLL4	2	218739079	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		218739079	23454450	6	324											
BAP1	8314	BI	GRCh38	chr3	52403824	52403824	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgttgatggtgttgggctGcagcactgacagttgcccat	14	9	0	2	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.1321C>T	p.Gln441Ter	p.Q441*	ENST00000460680	13/17	32	4	28	58			BAP1,stop_gained,p.Q441*,ENST00000460680,NM_004656.3,c.1321C>T,HIGH,YES,,,-1;BAP1,stop_gained,p.Q423*,ENST00000296288,,c.1267C>T,HIGH,,,,-1;BAP1,stop_gained,p.Q33*,ENST00000469613,,c.96C>T,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,,n.749C>T,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	A	ENST00000460680	Transcript	stop_gained	stop_gained	1793/3937	1321/2190	441/729	Q/*	Cag/Tag		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			13/17																			HIGH	1	SNV	1			1											PASS	GGGCTGCAGCA	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	A	4	1	23	52403824	52403824	G	A	1	0	0	0	0	0	1	0	0	1463	1328	46	3		3	BAP1	3	52403824	Nonsense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		52403824	145891735	7	325											
ZDHHC23	254887	BI	GRCh38	chr3	113956418	113956418	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttgctcacctcggtgtatGggatcacactgaccttggac	10	12	3	1	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.952G>C	p.Gly318Arg	p.G318R	ENST00000330212	4/6	42	4	38	103			ZDHHC23,missense_variant,p.G318R,ENST00000330212,NM_173570.3,c.952G>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZDHHC23,missense_variant,p.G312R,ENST00000498275,,c.934G>C,MODERATE,,deleterious(0),probably_damaging(1),1;ZDHHC23,downstream_gene_variant,,ENST00000491556,,,MODIFIER,,,,1;ZDHHC23,upstream_gene_variant,,ENST00000496083,,,MODIFIER,,,,1;ZDHHC23,upstream_gene_variant,,ENST00000488129,,,MODIFIER,,,,1;ZDHHC23,missense_variant,p.G318R,ENST00000478793,,c.952G>C,MODERATE,,deleterious(0),probably_damaging(1),1	C	ENST00000330212	Transcript	missense_variant	missense_variant	1251/3778	952/1230	318/409	G/R	Ggg/Cgg		1		1	ZDHHC23	HGNC	HGNC:28654	protein_coding	YES	CCDS33827.1	ENSP00000330485	Q8IYP9			NM_173570.3	deleterious(0)	probably_damaging(1)	4/6		Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											panel_of_normals	TGTATGGGATC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae	gdc_pon		True	Unknown	C	3	2	23	113956418	113956418	G	C	1	0	0	0	0	1	0	0	0	18190	1348	47	5		5	ZDHHC23	3	113956418	Missense_Mutation	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08	61552594	113956418	84339141	8	326											
ARSB	411	BI	GRCh38	chr5	78964472	78964472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttggtgaatatgtttgTtgaatacatatttttatatc	6	4	0	2	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.634A>G	p.Thr212Ala	p.T212A	ENST00000264914	3/8	41	20	21	46			ARSB,missense_variant,p.T212A,ENST00000264914,NM_000046.3,c.634A>G,MODERATE,YES,tolerated(0.1),benign(0.166),-1;ARSB,missense_variant,p.T212A,ENST00000396151,NM_198709.2,c.634A>G,MODERATE,,tolerated(0.06),benign(0.104),-1;ARSB,missense_variant,p.T212A,ENST00000565165,,c.634A>G,MODERATE,,tolerated(0.06),benign(0.104),-1	C	ENST00000264914	Transcript	missense_variant	missense_variant	1171/5327	634/1602	212/533	T/A	Aca/Gca		1		-1	ARSB	HGNC	HGNC:714	protein_coding	YES	CCDS4043.1	ENSP00000264914	P15848	A0A024RAJ9	UPI00001260A3	NM_000046.3	tolerated(0.1)	benign(0.166)	3/8		Pfam_domain:PF00884;Superfamily_domains:SSF53649																	MODERATE	1	SNV	1			1											PASS	GTTTGTTGAAT	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	C	3	2	23	78964472	78964472	T	C	1	0	0	0	0	1	0	0	0	1131	1725	60	4		4	ARSB	5	78964472	Missense_Mutation	SNP	T	TCGA-V4-A9EU-01A-11D-A39W-08		78964472	102573787	9	327											
TENM2	57451	BI	GRCh38	chr5	168247444	168247444	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtccagtatgagatgttcCggtccctcatgtactggatg	12	9	1	1	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.6505C>A	p.=	p.R2169R	ENST00000518659	27/29	47	44	3	60			TENM2,synonymous_variant,p.R2048R,ENST00000519204,,c.6142C>A,LOW,,,,1;TENM2,synonymous_variant,p.R1993R,ENST00000403607,,c.5977C>A,LOW,,,,1;TENM2,synonymous_variant,p.R2169R,ENST00000518659,NM_001122679.1,c.6505C>A,LOW,YES,,,1;TENM2,synonymous_variant,p.R2002R,ENST00000545108,,c.6004C>A,LOW,,,,1;TENM2,synonymous_variant,p.R1930R,ENST00000520394,,c.5788C>A,LOW,,,,1	A	ENST00000518659	Transcript	synonymous_variant	synonymous_variant	6544/8550	6505/8325	2169/2774	R	Cgg/Agg		1		1	TENM2	HGNC	HGNC:29943	protein_coding	YES		ENSP00000429430	Q9NT68		UPI0001C48FC2	NM_001122679.1			27/29																			LOW	1	SNV	5			1											PASS	TGTTCCGGTCC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			False	Unknown	A	2	1	23	168247444	168247444	C	A	1	0	0	0	0	0	0	0	1	16172	643	23	5		5	TENM2	5	168247444	Silent	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08	89282972	168247444	13290815	10	328											
FAM171A1	221061	BI	GRCh38	chr10	15221055	15221055	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccgctcttcagccAcgttcctgtggaattgagaa	9	13	2	2	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.760T>C	p.Trp254Arg	p.W254R	ENST00000378116	6/8	35	20	15	27			FAM171A1,missense_variant,p.W254R,ENST00000378116,NM_001010924.1,c.760T>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;FAM171A1,non_coding_transcript_exon_variant,,ENST00000477161,,n.75T>C,MODIFIER,,,,-1	G	ENST00000378116	Transcript	missense_variant	missense_variant	767/3952	760/2673	254/890	W/R	Tgg/Cgg		1		-1	FAM171A1	HGNC	HGNC:23522	protein_coding	YES	CCDS31154.1	ENSP00000367356	Q5VUB5		UPI00001414CA	NM_001010924.1	deleterious(0)	probably_damaging(0.999)	6/8		Pfam_domain:PF10577																	MODERATE	1	SNV	1			1											PASS	CAGCCACGTTC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	G	3	3	23	15221055	15221055	A	G	1	0	0	0	0	1	0	0	0	5337	173	6	4		4	FAM171A1	10	15221055	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		15221055	118576367	11	329											
MS4A8	83661	BI	GRCh38	chr11	60700983	60700983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatccaaacagccagccGcaagtccacctagttcctgg	8	15	0	0	rs148869742	by1000G;byCluster	TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.123G>A	p.=	p.P41P	ENST00000300226	2/7	72	43	29	72			MS4A8,synonymous_variant,p.P41P,ENST00000300226,NM_031457.1,c.123G>A,LOW,YES,,,1;MS4A8,synonymous_variant,p.P41P,ENST00000529752,,c.123G>A,LOW,,,,1;MS4A8,synonymous_variant,p.P23P,ENST00000525458,,c.68G>A,LOW,,,,1;MS4A8,synonymous_variant,p.P41P,ENST00000532816,,c.123G>A,LOW,,,,1;MS4A8,non_coding_transcript_exon_variant,,ENST00000533691,,n.315G>A,MODIFIER,,,,1;MS4A8,non_coding_transcript_exon_variant,,ENST00000532953,,n.314G>A,MODIFIER,,,,1;MS4A8,non_coding_transcript_exon_variant,,ENST00000450141,,n.89G>A,MODIFIER,,,,1;MS4A8,non_coding_transcript_exon_variant,,ENST00000534316,,n.145G>A,MODIFIER,,,,1;MS4A8,intron_variant,,ENST00000533354,,n.119+1208G>A,MODIFIER,,,,1	A	ENST00000300226	Transcript	synonymous_variant	synonymous_variant	326/1353	123/753	41/250	P	ccG/ccA	rs148869742	1		1	MS4A8	HGNC	HGNC:13380	protein_coding	YES	CCDS7990.1	ENSP00000300226	Q9BY19			NM_031457.1			2/7			2e-04	8e-04	0		0	0	0										LOW	1	SNV	1			1	6.589e-05	6.59e-05	0.0005766	0	0	0	2.997e-05	0	0		panel_of_normals	CAGCCGCAAGT	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae	common_in_exac;gdc_pon		True	Unknown	A	2	1	23	60700983	60700983	G	A	1	0	0	0	0	0	0	0	1	9846	1074	38	2		2	MS4A8	11	60700983	Silent	SNP	G	TCGA-V4-A9EU-01A-11D-A39W-08		60700983	74385639	12	330											
DDX51	317781	BI	GRCh38	chr12	132140199	132140199	+	Splice_Region	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcgtccgtgctgatgagCctgccgggacacgcagcatt	15	12	0	2	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.1674G>A	p.=	p.L558L	ENST00000397333	12/15	37	21	16	38			DDX51,splice_region_variant,p.L558L,ENST00000397333,NM_175066.3,c.1674G>A,LOW,YES,,,-1;NOC4L,upstream_gene_variant,,ENST00000330579,NM_024078.1,,MODIFIER,YES,,,1;NOC4L,upstream_gene_variant,,ENST00000541954,,,MODIFIER,,,,1;DDX51,splice_region_variant,,ENST00000329073,,n.2170G>A,LOW,,,,-1;DDX51,splice_region_variant,,ENST00000541489,,n.320G>A,LOW,,,,-1;DDX51,upstream_gene_variant,,ENST00000462829,,,MODIFIER,,,,-1;DDX51,downstream_gene_variant,,ENST00000545991,,,MODIFIER,,,,-1;DDX51,downstream_gene_variant,,ENST00000546058,,,MODIFIER,,,,-1	T	ENST00000397333	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	1713/4718	1674/2001	558/666	L	ctG/ctA		1		-1	DDX51	HGNC	HGNC:20082	protein_coding	YES	CCDS41865.1	ENSP00000380495	Q8N8A6		UPI000049DD95	NM_175066.3			12/15		Pfam_domain:PF00271;PROSITE_profiles:PS51194;SMART_domains:SM00490;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	ATGAGCCTGCC	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	T	5	4	23	132140199	132140199	C	T	1	0	0	0	0	0	0	1	0	4172	753	26	3		3	DDX51	12	132140199	Splice_Region	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		132140199	1135110	13	331											
MTMR10	54893	BI	GRCh38	chr15	30959051	30959052	+	Frame_Shift_Ins	INS	-	-	AAAAGAATGGG													actggcatccttctcccaacINSaaaagaatgggaaaagatct					novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.818_828dupCCCATTCTTTT	p.Val277ProfsTer45	p.V277Pfs*45	ENST00000435680	8/16	12	11	1	13			MTMR10,frameshift_variant,p.V277Pfs*45,ENST00000435680,NM_017762.2,c.818_828dupCCCATTCTTTT,HIGH,YES,,,-1;MTMR10,frameshift_variant,p.V195Pfs*45,ENST00000563714,,c.572_582dupCCCATTCTTTT,HIGH,,,,-1;MTMR10,frameshift_variant,p.V42Pfs*45,ENST00000566981,,c.113_123dupCCCATTCTTTT,HIGH,,,,-1;RNU6-466P,upstream_gene_variant,,ENST00000391224,,,MODIFIER,YES,,,-1;MTMR10,3_prime_UTR_variant,,ENST00000568604,,c.*70_*80dupCCCATTCTTTT,MODIFIER,,,,-1;MTMR10,3_prime_UTR_variant,,ENST00000567567,,c.*411_*421dupCCCATTCTTTT,MODIFIER,,,,-1;MTMR10,3_prime_UTR_variant,,ENST00000568547,,c.*70_*80dupCCCATTCTTTT,MODIFIER,,,,-1;MTMR10,non_coding_transcript_exon_variant,,ENST00000565728,,n.817_827dupCCCATTCTTTT,MODIFIER,,,,-1;MTMR10,non_coding_transcript_exon_variant,,ENST00000568611,,n.545_555dupCCCATTCTTTT,MODIFIER,,,,-1;MTMR10,downstream_gene_variant,,ENST00000564787,,,MODIFIER,,,,-1	AAAAGAATGGG	ENST00000435680	Transcript	frameshift_variant	frameshift_variant	926-927/4961	828-829/2334	276-277/777	-/PILX	-/CCCATTCTTTT		1		-1	MTMR10	HGNC	HGNC:25999	protein_coding	YES	CCDS45204.1	ENSP00000402537	Q9NXD2	X5D963	UPI00001FE130	NM_017762.2			8/16		Pfam_domain:PF06602;Superfamily_domains:SSF52799																	HIGH	1	insertion	1			1											PASS	CCCAACAAAAG	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			False	Unknown	AAAAGAATGGG	7	5	23	30959051	30959051	-	AAAAGAATGGG	1	0	1	1	0	0	0	0	0	9927	478	17	0		0	MTMR10	15	30959051	Frame_Shift_Ins	INS	-	TCGA-V4-A9EU-01A-11D-A39W-08		30959051	71032138	14	332											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	44	33	11	78			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae		COSM52969	True	Unknown	T	3	4	23	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EU-01A-11D-A39W-08		3118944	55498672	15	333											
SLC12A5	57468	BI	GRCh38	chr20	46043903	46043903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgttgttctgtttggggCctgcattgagggggtcgtcc	15	10	1	1	novel		TCGA-V4-A9EU-01A-11D-A39W-08	TCGA-V4-A9EU-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ebcf1c57-ebb9-466e-bb9c-4d5779ac3035	6fc04b63-f516-4793-b7d7-5346456b6593	c.1433C>T	p.Ala478Val	p.A478V	ENST00000454036	11/26	92	63	29	119			SLC12A5,missense_variant,p.A455V,ENST00000243964,NM_020708.4,c.1364C>T,MODERATE,,deleterious(0.01),probably_damaging(0.942),1;SLC12A5,missense_variant,p.A478V,ENST00000454036,NM_001134771.1,c.1433C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.85),1;SLC12A5,3_prime_UTR_variant,,ENST00000616933,,c.*682C>T,MODIFIER,,,,1;SLC12A5,intron_variant,,ENST00000616201,,c.1297+211C>T,MODIFIER,,,,1;SLC12A5,intron_variant,,ENST00000616202,,c.612+6518C>T,MODIFIER,,,,1;SLC12A5,intron_variant,,ENST00000626937,,c.509+6621C>T,MODIFIER,,,,1;SLC12A5,intron_variant,,ENST00000539566,,c.510-1975C>T,MODIFIER,,,,1;SLC12A5,downstream_gene_variant,,ENST00000629054,,,MODIFIER,,,,1;SLC12A5,downstream_gene_variant,,ENST00000625683,,,MODIFIER,,,,1;SLC12A5,downstream_gene_variant,,ENST00000372315,,,MODIFIER,,,,1;SLC12A5,downstream_gene_variant,,ENST00000622711,,,MODIFIER,,,,1;SLC12A5,upstream_gene_variant,,ENST00000626144,,,MODIFIER,,,,1;SLC12A5,downstream_gene_variant,,ENST00000608594,,,MODIFIER,,,,1	T	ENST00000454036	Transcript	missense_variant	missense_variant	1509/3593	1433/3420	478/1139	A/V	gCc/gTc		1		1	SLC12A5	HGNC	HGNC:13818	protein_coding	YES	CCDS46610.1	ENSP00000387694	Q9H2X9			NM_001134771.1	deleterious(0.01)	possibly_damaging(0.85)	11/26		Pfam_domain:PF00324;Transmembrane_helices:Tmhmm;TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	5			1											PASS	TGGGGCCTGCA	1dcab1aa-01df-4ed7-a76e-3cd06b8ae73b	e34ee008-15ab-4910-b114-b359574bd20b	b109247a-5b50-42ac-9e05-311c3083e1dd	df685f8c-645a-47ae-a471-63bf1973a0ae			True	Unknown	T	3	4	23	46043903	46043903	C	T	1	0	0	0	0	1	0	0	0	14651	739	26	3		3	SLC12A5	20	46043903	Missense_Mutation	SNP	C	TCGA-V4-A9EU-01A-11D-A39W-08		46043903	18400264	16	334											
BAP1	8314	BI	GRCh38	chr3	52406307	52406347	+	Frame_Shift_Del	DEL	GGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	GGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	-													accttcagcacatgcagcctGgcctcatacttgatcctgcg					novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.689_729delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCC	p.Leu230GlnfsTer40	p.L230Qfs*40	ENST00000460680	9/17	26	15	11	70			BAP1,splice_acceptor_variant,p.X220_splice,ENST00000296288,,c.660-25_675delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCC,HIGH,,,,-1;BAP1,frameshift_variant,p.L230Qfs*40,ENST00000460680,NM_004656.3,c.689_729delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCC,HIGH,YES,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,,n.856_896delTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCC,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	1161-1201/3937	689-729/2190	230-243/729	LMAVVPDRRIKYEA/X	cTGATGGCAGTGGTGCCCGACCGCAGGATCAAGTATGAGGCC/c		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			9/17		Superfamily_domains:SSF54001																	HIGH	1	deletion	1			1											PASS	CAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTG	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			False	Unknown	-	7	5	24	52406307	52406307	GGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	-	1	0	1	0	1	0	0	0	0	1463	1335	47	0		0	BAP1	3	52406307	Frame_Shift_Del	DEL	GGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCA	TCGA-V4-A9EV-01A-11D-A39W-08		52406307	145889252	1	335											
CHST2	9435	BI	GRCh38	chr3	143121603	143121603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtgtgctcgtcaccaCtctgccccgcctaccgcaag	11	16	2	0	novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.787C>T	p.Leu263Phe	p.L263F	ENST00000309575	2/2	10	2	8	13			CHST2,missense_variant,p.L263F,ENST00000309575,NM_004267.4,c.787C>T,MODERATE,YES,tolerated(0.06),benign(0.154),1;RP11-80H8.4,upstream_gene_variant,,ENST00000483262,,,MODIFIER,,,,1	T	ENST00000309575	Transcript	missense_variant	missense_variant	2171/4582	787/1593	263/530	L/F	Ctc/Ttc		1		1	CHST2	HGNC	HGNC:1970	protein_coding	YES	CCDS3129.1	ENSP00000307911	Q9Y4C5	V9HVX9	UPI0000073CBC	NM_004267.4	tolerated(0.06)	benign(0.154)	2/2		Pfam_domain:PF00685;Superfamily_domains:SSF52540;PIRSF_domain:PIRSF005883																	MODERATE	1	SNV	1			1											PASS	CACCACTCTGC	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	T	3	4	24	143121603	143121603	C	T	1	0	0	0	0	1	0	0	0	3164	565	20	3		3	CHST2	3	143121603	Missense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08	90715296	143121603	55173956	2	336											
H2AFZ	3015	BI	GRCh38	chr4	99949313	99949313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatggctgcgctgtacacaGcggcagtcgcgcccacacgt	14	14	0	0	novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.155C>T	p.Ala52Val	p.A52V	ENST00000296417	3/5	46	31	15	57			H2AFZ,missense_variant,p.A52V,ENST00000296417,NM_002106.3,c.155C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.475),-1;DNAJB14,upstream_gene_variant,,ENST00000442697,NM_001031723.3&NM_001278310.1,,MODIFIER,YES,,,-1;DNAJB14,upstream_gene_variant,,ENST00000610281,NM_001278311.1,,MODIFIER,,,,-1;RP11-15B17.1,upstream_gene_variant,,ENST00000507494,,,MODIFIER,YES,,,1;RP11-15B17.1,upstream_gene_variant,,ENST00000514624,,,MODIFIER,,,,1;RP11-15B17.1,upstream_gene_variant,,ENST00000501976,,,MODIFIER,,,,1;H2AFZ,non_coding_transcript_exon_variant,,ENST00000529158,,n.204C>T,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000471738,,,MODIFIER,,,,-1;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511203,,n.987C>T,MODIFIER,,,,-1;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511348,,n.616C>T,MODIFIER,,,,-1;H2AFZ,non_coding_transcript_exon_variant,,ENST00000511319,,n.680C>T,MODIFIER,,,,-1;H2AFZ,non_coding_transcript_exon_variant,,ENST00000527366,,n.232C>T,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000469942,,,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000334223,,,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000474664,,,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000398991,,,MODIFIER,,,,-1;DNAJB14,upstream_gene_variant,,ENST00000426476,,,MODIFIER,,,,-1	A	ENST00000296417	Transcript	missense_variant	missense_variant	373/979	155/387	52/128	A/V	gCt/gTt		1		-1	H2AFZ	HGNC	HGNC:4741	protein_coding	YES	CCDS3654.1	ENSP00000296417	P0C0S5		UPI0000000FEF	NM_002106.3	deleterious(0.03)	possibly_damaging(0.475)	3/5		Pfam_domain:PF00125;Prints_domain:PR00620;SMART_domains:SM00414;Superfamily_domains:SSF47113																	MODERATE	1	SNV	1			1											PASS	ACACAGCGGCA	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	A	3	1	24	99949313	99949313	G	A	1	0	0	0	0	1	0	0	0	6812	971	34	3		3	H2AFZ	4	99949313	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		99949313	90265242	3	337											
NR3C1	2908	BI	GRCh38	chr5	143400614	143400614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgctttggacagatctgGctgctgcgcattgcttactg	11	10	1	1	novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.226C>T	p.Pro76Ser	p.P76S	ENST00000343796	2/9	136	79	57	169			NR3C1,missense_variant,p.P76S,ENST00000343796,NM_001018077.1&NM_001018074.1&NM_001018075.1,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000394464,NM_001204258.1&NM_001204262.1&NM_000176.2&NM_001204261.1&NM_001204259.1&NM_001204264.1&NM_001204260.1&NM_001204263.1,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000424646,,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000415690,NM_001020825.1,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.555),-1;NR3C1,missense_variant,p.P76S,ENST00000231509,NM_001024094.1,c.226C>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.347),-1;NR3C1,missense_variant,p.P76S,ENST00000504572,,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.347),-1;NR3C1,missense_variant,p.P76S,ENST00000394466,,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.347),-1;NR3C1,missense_variant,p.P76S,ENST00000503201,NM_001018076.1,c.226C>T,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000514699,,c.226C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000502500,,c.226C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000510170,,c.226C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000508760,,c.226C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.692),-1;NR3C1,missense_variant,p.P76S,ENST00000502892,,c.226C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.692),-1	A	ENST00000343796	Transcript	missense_variant	missense_variant	1220/7286	226/2334	76/777	P/S	Cca/Tca		1		-1	NR3C1	HGNC	HGNC:7978	protein_coding		CCDS4278.1	ENSP00000343205	P04150	F1D8N4	UPI000012B301	NM_001018077.1;NM_001018074.1;NM_001018075.1	deleterious_low_confidence(0.01)	possibly_damaging(0.692)	2/9		Pfam_domain:PF02155;Prints_domain:PR00528																	MODERATE		SNV	5			1											PASS	ATCTGGCTGCT	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	A	3	1	24	143400614	143400614	G	A	1	0	0	0	0	1	0	0	0	10686	1203	42	3		3	NR3C1	5	143400614	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		143400614	38137645	4	338											
SYNE1	23345	BI	GRCh38	chr6	152442203	152442203	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctgcgcgatctgctGctgcacatctctcttctttg	9	15	4	0	novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.3880C>T	p.Gln1294Ter	p.Q1294*	ENST00000367255	31/146	74	51	23	77			SYNE1,stop_gained,p.Q1294*,ENST00000367255,NM_182961.3,c.3880C>T,HIGH,YES,,,-1;SYNE1,stop_gained,p.Q1301*,ENST00000423061,NM_033071.3,c.3901C>T,HIGH,,,,-1;SYNE1,stop_gained,p.Q1343*,ENST00000341594,,c.4027C>T,HIGH,,,,-1;SYNE1,stop_gained,p.Q1284*,ENST00000367248,,c.3850C>T,HIGH,,,,-1;SYNE1,stop_gained,p.Q1294*,ENST00000367253,,c.3880C>T,HIGH,,,,-1;SYNE1,stop_gained,p.Q1294*,ENST00000413186,,c.3880C>T,HIGH,,,,-1;SYNE1,non_coding_transcript_exon_variant,,ENST00000461872,,n.4098C>T,MODIFIER,,,,-1	A	ENST00000367255	Transcript	stop_gained	stop_gained	4482/27748	3880/26394	1294/8797	Q/*	Cag/Tag		1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3			31/146		Low_complexity_(Seg):Seg;Superfamily_domains:SSF49758;Superfamily_domains:SSF90123																	HIGH	1	SNV	1			1											PASS	CTGCTGCTGCA	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	A	4	1	24	152442203	152442203	G	A	1	0	0	0	0	0	1	0	0	15837	1328	46	3		3	SYNE1	6	152442203	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		152442203	18363776	5	339											
FBXL13	222235	BI	GRCh38	chr7	103028743	103028743	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtacgagctatgtctctcCaagtgctgcaggcagaagac	11	10	1	2	novel		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.74G>A	p.Trp25Ter	p.W25*	ENST00000313221	4/20	50	46	4	76			FBXL13,stop_gained,p.W25*,ENST00000313221,NM_145032.3,c.74G>A,HIGH,YES,,,-1;FBXL13,stop_gained,p.W25*,ENST00000436908,,c.74G>A,HIGH,,,,-1;FBXL13,stop_gained,p.W115*,ENST00000379308,,c.344G>A,HIGH,,,,-1;FBXL13,stop_gained,p.W25*,ENST00000379305,NM_001287150.1,c.74G>A,HIGH,,,,-1;FBXL13,stop_gained,p.W25*,ENST00000455112,NM_001111038.1,c.74G>A,HIGH,,,,-1;FBXL13,stop_gained,p.W25*,ENST00000456695,,c.74G>A,HIGH,,,,-1;FBXL13,stop_gained,p.W115*,ENST00000440067,,c.344G>A,HIGH,,,,-1;RP11-645N11.3,upstream_gene_variant,,ENST00000447336,,,MODIFIER,YES,,,1;FBXL13,intron_variant,,ENST00000471074,,n.485+608G>A,MODIFIER,,,,-1;FBXL13,stop_gained,p.W115*,ENST00000448002,,c.344G>A,HIGH,,,,-1	T	ENST00000313221	Transcript	stop_gained	stop_gained	501/2744	74/2208	25/735	W/*	tGg/tAg		1		-1	FBXL13	HGNC	HGNC:21658	protein_coding	YES	CCDS5726.1	ENSP00000321927	Q8NEE6		UPI000020F830	NM_145032.3			4/20																			HIGH	1	SNV	2			1											PASS	CTCTCCAAGTG	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	T	4	4	24	103028743	103028743	C	T	1	0	0	0	0	0	1	0	0	5573	608	21	3		3	FBXL13	7	103028743	Nonsense_Mutation	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		103028743	56317230	6	340											
PRKD1	5587	BI	GRCh38	chr14	29638838	29638838	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcaaggtgaattggtcGtccaatgtatgattgagaat	11	5	1	3	rs765821685		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.763C>T	p.Arg255Ter	p.R255*	ENST00000331968	5/18	63	39	24	105			PRKD1,stop_gained,p.R255*,ENST00000331968,NM_002742.2,c.763C>T,HIGH,YES,,,-1;PRKD1,stop_gained,p.R255*,ENST00000616995,,c.763C>T,HIGH,,,,-1;PRKD1,stop_gained,p.R263*,ENST00000415220,,c.787C>T,HIGH,,,,-1;PRKD1,upstream_gene_variant,,ENST00000546371,,,MODIFIER,,,,-1;PRKD1,non_coding_transcript_exon_variant,,ENST00000551644,,n.286C>T,MODIFIER,,,,-1;PRKD1,non_coding_transcript_exon_variant,,ENST00000547441,,n.359C>T,MODIFIER,,,,-1;PRKD1,non_coding_transcript_exon_variant,,ENST00000468370,,n.334C>T,MODIFIER,,,,-1	A	ENST00000331968	Transcript	stop_gained	stop_gained	993/3726	763/2739	255/912	R/*	Cga/Tga	rs765821685	1		-1	PRKD1	HGNC	HGNC:9407	protein_coding	YES	CCDS9637.1	ENSP00000333568	Q15139		UPI0000456761	NM_002742.2			5/18		Superfamily_domains:SSF57889																	HIGH	1	SNV	1			1	8.236e-06	8.243e-06	0	0	0	0	1.5e-05	0	0		PASS	TGGTCGTCCAA	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	A	4	1	24	29638838	29638838	G	A	1	0	0	0	0	0	1	0	0	12651	1153	40	1		1	PRKD1	14	29638838	Nonsense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08		29638838	77404880	7	341											
EXD1	161829	BI	GRCh38	chr15	41209531	41209531	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttgccatggcgacaTacattcgctccttctgctgc	8	14	1	0	rs370262959	byCluster;byFrequency	TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.330A>G	p.=	p.V110V	ENST00000314992	5/10	56	41	15	53			EXD1,synonymous_variant,p.V110V,ENST00000314992,NM_152596.3,c.330A>G,LOW,,,,-1;EXD1,synonymous_variant,p.V168V,ENST00000458580,NM_001286441.1,c.504A>G,LOW,YES,,,-1	C	ENST00000314992	Transcript	synonymous_variant	synonymous_variant	521/2942	330/1545	110/514	V	gtA/gtG	rs370262959	1		-1	EXD1	HGNC	HGNC:28507	protein_coding		CCDS10072.1	ENSP00000321029	Q8NHP7		UPI00001BBFD3	NM_152596.3			5/10		Pfam_domain:PF01612;SMART_domains:SM00474;Superfamily_domains:SSF53098								0	1e-04								LOW		SNV	1			1	0.0001565	0.000157	0	0	0	0	0.0002856	0	0		PASS	CGACATACATT	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	C	2	2	24	41209531	41209531	T	C	1	0	0	0	0	0	0	0	1	5164	1393	49	4		4	EXD1	15	41209531	Silent	SNP	T	TCGA-V4-A9EV-01A-11D-A39W-08		41209531	60781658	8	342											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	36	26	10	80			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba		COSM52969	True	Unknown	T	3	4	24	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9EV-01A-11D-A39W-08		3118944	55498672	9	343											
MEGF8	1954	BI	GRCh38	chr19	42353587	42353587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccacgccgtggccactgcGacaacctcagtgggctctgc	11	17	2	0			TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.3673G>A	p.Asp1225Asn	p.D1225N	ENST00000251268	21/42	7	3	4	13			MEGF8,missense_variant,p.D1158N,ENST00000334370,NM_001410.2,c.3472G>A,MODERATE,,tolerated(0.25),possibly_damaging(0.897),1;MEGF8,missense_variant,p.D1225N,ENST00000251268,NM_001271938.1,c.3673G>A,MODERATE,YES,tolerated(0.22),possibly_damaging(0.803),1;MEGF8,5_prime_UTR_variant,,ENST00000378073,,c.-3413G>A,MODIFIER,,,,1;MIR8077,downstream_gene_variant,,ENST00000618566,,,MODIFIER,YES,,,1;MEGF8,non_coding_transcript_exon_variant,,ENST00000593840,,n.455G>A,MODIFIER,,,,1	A	ENST00000251268	Transcript	missense_variant	missense_variant	3673/9549	3673/8538	1225/2845	D/N	Gac/Aac		1		1	MEGF8	HGNC	HGNC:3233	protein_coding	YES	CCDS62693.1	ENSP00000251268	Q7Z7M0		UPI00005788D1	NM_001271938.1	tolerated(0.22)	possibly_damaging(0.803)	21/42		Pfam_domain:PF00053;Prints_domain:PR00011;SMART_domains:SM00181;SMART_domains:SM00180;PROSITE_profiles:PS50311;PROSITE_profiles:PS50027;Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1											PASS	ACTGCGACAAC	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba		COSM4544950;COSM4544951;COSM4544952	False	Unknown	A	3	1	24	42353587	42353587	G	A	1	0	0	0	0	1	0	0	0	9403	1058	37	2		2	MEGF8	19	42353587	Missense_Mutation	SNP	G	TCGA-V4-A9EV-01A-11D-A39W-08	39234643	42353587	16264029	10	344											
HIRA	7290	BI	GRCh38	chr22	19355831	19355831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attactgggattccatgctgCgtcagcaagatctgtgatac	10	9	2	2	rs782074548		TCGA-V4-A9EV-01A-11D-A39W-08	TCGA-V4-A9EV-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	71f74e00-8749-4728-be0c-8daf403005be	91f22713-25ca-4cf0-8c3e-ded4ea72d224	c.2490G>A	p.=	p.T830T	ENST00000263208	21/25	30	20	10	52			HIRA,synonymous_variant,p.T830T,ENST00000263208,NM_003325.3,c.2490G>A,LOW,YES,,,-1;HIRA,synonymous_variant,p.T623T,ENST00000340170,,c.1869G>A,LOW,,,,-1;C22orf39,intron_variant,,ENST00000509549,,c.*2331+399G>A,MODIFIER,,,,-1	T	ENST00000263208	Transcript	synonymous_variant	synonymous_variant	2747/4053	2490/3054	830/1017	T	acG/acA	rs782074548	1		-1	HIRA	HGNC	HGNC:4916	protein_coding	YES	CCDS13759.1	ENSP00000263208	P54198		UPI0000074373	NM_003325.3			21/25		Pfam_domain:PF07569																	LOW	1	SNV	1			1	8.236e-06	8.411e-06	0	0	0	0	1.524e-05	0	0		PASS	TGCTGCGTCAG	985b4c1b-8f15-4243-8ac2-d4bbbb8b98fc	4f3fbed7-15c3-4921-882a-4f89dc9082f6	408dc45e-9917-4c88-9a9f-0a63e8e583ff	da6f0ed2-a6d5-4d87-823e-122ebd59aaba			True	Unknown	T	2	4	24	19355831	19355831	C	T	1	0	0	0	0	0	0	0	1	7008	755	27	2		2	HIRA	22	19355831	Silent	SNP	C	TCGA-V4-A9EV-01A-11D-A39W-08		19355831	31462637	11	345											
PRAMEF20	645425	BI	GRCh38	chr1	13421178	13421178	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttaagggagcccgagaggAtcttgttctgtaccgactac	11	11	2	1	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1348A>T	p.Ile450Phe	p.I450F	ENST00000316412	4/4	195	133	62	295			PRAMEF20,missense_variant,p.I450F,ENST00000316412,NM_001099852.1,c.1348A>T,MODERATE,YES,deleterious(0.01),benign(0.3),1;PRAMEF20,missense_variant,p.I450F,ENST00000602960,,c.1348A>T,MODERATE,,deleterious(0.01),benign(0.3),1	T	ENST00000316412	Transcript	missense_variant	missense_variant	1447/1597	1348/1428	450/475	I/F	Atc/Ttc		1		1	PRAMEF20	HGNC	HGNC:25224	protein_coding	YES	CCDS41265.1	ENSP00000346275	Q5VT98		UPI0004423C14	NM_001099852.1	deleterious(0.01)	benign(0.3)	4/4																			MODERATE	1	SNV	5			1											PASS	AGAGGATCTTG	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			False	Unknown	T	3	4	25	13421178	13421178	A	T	1	0	0	0	0	1	0	0	0	12563	333	12	5		5	PRAMEF20	1	13421178	Missense_Mutation	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		13421178	235535244	1	346											
UBXN11	91544	BI	GRCh38	chr1	26282660	26282661	+	Frame_Shift_Ins	INS	-	-	G													gcacccacctggcctgcgctINSagcagagctcgcacgtcccc					novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1280_1281insC	p.Ala428SerfsTer12	p.A428Sfs*12	ENST00000374221	15/16	33	30	3	36			UBXN11,frameshift_variant,p.A308Sfs*12,ENST00000314675,NM_001077262.1,c.920_921insC,HIGH,,,,-1;UBXN11,frameshift_variant,p.A428Sfs*12,ENST00000374222,,c.1280_1281insC,HIGH,YES,,,-1;UBXN11,frameshift_variant,p.A395Sfs*12,ENST00000374217,NM_145345.2,c.1181_1182insC,HIGH,,,,-1;UBXN11,frameshift_variant,p.A428Sfs*12,ENST00000374221,NM_183008.2,c.1280_1281insC,HIGH,,,,-1;UBXN11,frameshift_variant,p.A395Sfs*12,ENST00000357089,,c.1181_1182insC,HIGH,,,,-1;UBXN11,frameshift_variant,p.A185Sfs*12,ENST00000374223,,c.551_552insC,HIGH,,,,-1;CEP85,downstream_gene_variant,,ENST00000451429,NM_001281517.1,,MODIFIER,,,,1;CEP85,downstream_gene_variant,,ENST00000252992,NM_022778.3,,MODIFIER,YES,,,1;CEP85,downstream_gene_variant,,ENST00000453146,,,MODIFIER,,,,1;SH3BGRL3,downstream_gene_variant,,ENST00000270792,NM_031286.3,,MODIFIER,YES,,,1;SH3BGRL3,downstream_gene_variant,,ENST00000614679,,,MODIFIER,,,,1;UBXN11,downstream_gene_variant,,ENST00000374215,,,MODIFIER,,,,-1;UBXN11,downstream_gene_variant,,ENST00000452980,,,MODIFIER,,,,-1;SH3BGRL3,downstream_gene_variant,,ENST00000319041,,,MODIFIER,,,,1;UBXN11,downstream_gene_variant,,ENST00000442942,,,MODIFIER,,,,-1;CEP85,downstream_gene_variant,,ENST00000469609,,,MODIFIER,,,,1;UBXN11,non_coding_transcript_exon_variant,,ENST00000472155,,n.2345_2346insC,MODIFIER,,,,-1;UBXN11,non_coding_transcript_exon_variant,,ENST00000475591,,n.2242_2243insC,MODIFIER,,,,-1;UBXN11,non_coding_transcript_exon_variant,,ENST00000496466,,n.2062_2063insC,MODIFIER,,,,-1;UBXN11,non_coding_transcript_exon_variant,,ENST00000494942,,n.2027_2028insC,MODIFIER,,,,-1;CEP85,downstream_gene_variant,,ENST00000476272,,,MODIFIER,,,,1	G	ENST00000374221	Transcript	frameshift_variant	frameshift_variant	1494-1495/1792	1280-1281/1563	427/520	L/LX	cta/ctCa		1		-1	UBXN11	HGNC	HGNC:30600	protein_coding		CCDS41288.1	ENSP00000363338	Q5T124		UPI00004700E1	NM_183008.2			15/16		PROSITE_profiles:PS50033;Superfamily_domains:SSF54236																	HIGH		insertion	2			1											PASS	TGCGCTAGCAG	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			False	Unknown	G	7	5	25	26282660	26282660	-	G	1	0	1	1	0	0	0	0	0	17437	1509	53	0		0	UBXN11	1	26282660	Frame_Shift_Ins	INS	-	TCGA-V4-A9EW-01A-11D-A39W-08	12861482	26282660	222673762	2	347											
CNST	163882	BI	GRCh38	chr1	246660285	246660285	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatgcaacacaaaccAtctaagcgaagagtgagatt	8	10	1	2	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1923A>G	p.=	p.P641P	ENST00000366513	10/11	144	92	52	95			CNST,synonymous_variant,p.P641P,ENST00000366513,NM_152609.2,c.1923A>G,LOW,YES,,,1	G	ENST00000366513	Transcript	synonymous_variant	synonymous_variant	2192/5126	1923/2178	641/725	P	ccA/ccG		1		1	CNST	HGNC	HGNC:26486	protein_coding	YES	CCDS1628.1	ENSP00000355470	Q6PJW8		UPI000013E1DF	NM_152609.2			10/11																			LOW	1	SNV	1			1											PASS	AAACCATCTAA	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	G	2	3	25	246660285	246660285	A	G	1	0	0	0	0	0	0	0	1	3416	204	8	4		4	CNST	1	246660285	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08	220377625	246660285	2296137	3	348											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	58	33	25	59			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0		COSM110696	True	Unknown	A	3	1	25	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		197402760	44790769	4	349											
PKHD1L1	93035	BI	GRCh38	chr8	109491043	109491057	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-													ttctctccagcaattggtgtAtttgggacagatggattgga					novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.10059_10073delTGGGACAGATGGATT	p.Phe3353_Gly3357del	p.F3353_G3357del	ENST00000378402	61/78	76	68	8	87			PKHD1L1,inframe_deletion,p.F3353_G3357del,ENST00000378402,NM_177531.4,c.10059_10073delTGGGACAGATGGATT,MODERATE,YES,,,1;PKHD1L1,inframe_deletion,p.F281_G285del,ENST00000526472,,c.843_857delTGGGACAGATGGATT,MODERATE,,,,1	-	ENST00000378402	Transcript	inframe_deletion	inframe_deletion	10160-10174/13076	10056-10070/12732	3352-3357/4243	VFGTDG/V	gtATTTGGGACAGATGGa/gta		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4			61/78		SMART_domains:SM00710;Superfamily_domains:SSF51126																	MODERATE	1	deletion	1	3		1											PASS	TGGTGTATTTGGGACAGATGGATTGG	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	-	7	5	25	109491043	109491043	ATTTGGGACAGATGG	-	1	0	1	0	1	0	0	0	0	12068	436	16	0		0	PKHD1L1	8	109491043	In_Frame_Del	DEL	ATTTGGGACAGATGG	TCGA-V4-A9EW-01A-11D-A39W-08		109491043	35647593	5	350											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	93	53	40	113			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0		COSM28758	True	Unknown	G	3	3	25	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		77794572	60600145	6	351											
SLC5A12	159963	BI	GRCh38	chr11	26703916	26703916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgacaaccatctgaaatGcatctgtccacaccactgct	5	14	3	2	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.557C>T	p.Ala186Val	p.A186V	ENST00000396005	5/15	149	74	75	172			SLC5A12,missense_variant,p.A186V,ENST00000396005,NM_178498.3,c.557C>T,MODERATE,YES,tolerated(1),benign(0.303),-1;SLC5A12,missense_variant,p.A186V,ENST00000280467,,c.557C>T,MODERATE,,tolerated(1),benign(0.057),-1;SLC5A12,5_prime_UTR_variant,,ENST00000533617,,c.-8C>T,MODIFIER,,,,-1;SLC5A12,5_prime_UTR_variant,,ENST00000527405,,c.-8C>T,MODIFIER,,,,-1	A	ENST00000396005	Transcript	missense_variant	missense_variant	867/6250	557/1857	186/618	A/V	gCa/gTa		1		-1	SLC5A12	HGNC	HGNC:28750	protein_coding	YES	CCDS7860.2	ENSP00000379326	Q1EHB4		UPI000003ED2C	NM_178498.3	tolerated(1)	benign(0.303)	5/15		Pfam_domain:PF00474;TIGRFAM_domain:TIGR00813;PROSITE_profiles:PS50283																	MODERATE	1	SNV	1			1											PASS	GAAATGCATCT	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	A	3	1	25	26703916	26703916	G	A	1	0	0	0	0	1	0	0	0	14947	1319	46	3		3	SLC5A12	11	26703916	Missense_Mutation	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		26703916	108382706	7	352											
ACP2	53	BI	GRCh38	chr11	47240132	47240132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcaggcgtggtcctccCcatctgcgacgtggcggtag	15	12	2	0	rs762176748		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1256G>A	p.Gly419Glu	p.G419E	ENST00000256997	11/11	63	57	6	59			ACP2,missense_variant,p.G419E,ENST00000256997,NM_001610.2,c.1256G>A,MODERATE,YES,tolerated_low_confidence(0.06),benign(0.01),-1;ACP2,missense_variant,p.G356E,ENST00000529444,,c.1067G>A,MODERATE,,tolerated_low_confidence(0.09),benign(0),-1;ACP2,missense_variant,p.G387E,ENST00000527256,,c.1160G>A,MODERATE,,tolerated_low_confidence(0.05),benign(0.008),-1;ACP2,missense_variant,p.G391E,ENST00000533929,,c.1172G>A,MODERATE,,tolerated_low_confidence(0.07),benign(0.005),-1;DDB2,downstream_gene_variant,,ENST00000256996,NM_000107.2,,MODIFIER,YES,,,1;DDB2,downstream_gene_variant,,ENST00000378603,,,MODIFIER,,,,1;ACP2,downstream_gene_variant,,ENST00000529663,,,MODIFIER,,,,-1;ACP2,downstream_gene_variant,,ENST00000530453,,,MODIFIER,,,,-1;DDB2,downstream_gene_variant,,ENST00000378600,NM_001300734.1,,MODIFIER,,,,1;ACP2,non_coding_transcript_exon_variant,,ENST00000525230,,n.710G>A,MODIFIER,,,,-1;ACP2,intron_variant,,ENST00000534752,,n.194-743G>A,MODIFIER,,,,-1;ACP2,downstream_gene_variant,,ENST00000524769,,,MODIFIER,,,,-1;DDB2,downstream_gene_variant,,ENST00000620515,,,MODIFIER,,,,1;ACP2,3_prime_UTR_variant,,ENST00000531004,,c.*729G>A,MODIFIER,,,,-1;ACP2,non_coding_transcript_exon_variant,,ENST00000534448,,n.1593G>A,MODIFIER,,,,-1;DDB2,downstream_gene_variant,,ENST00000612309,,,MODIFIER,,,,1;DDB2,downstream_gene_variant,,ENST00000617022,,,MODIFIER,,,,1;DDB2,downstream_gene_variant,,ENST00000617847,,,MODIFIER,,,,1;DDB2,downstream_gene_variant,,ENST00000378601,,,MODIFIER,,,,1;DDB2,downstream_gene_variant,,ENST00000614394,,,MODIFIER,,,,1;ACP2,downstream_gene_variant,,ENST00000531547,,,MODIFIER,,,,-1;DDB2,downstream_gene_variant,,ENST00000616278,,,MODIFIER,,,,1;DDB2,downstream_gene_variant,,ENST00000614884,,,MODIFIER,,,,1	T	ENST00000256997	Transcript	missense_variant	missense_variant	1373/2203	1256/1272	419/423	G/E	gGg/gAg	rs762176748	1		-1	ACP2	HGNC	HGNC:123	protein_coding	YES	CCDS7928.1	ENSP00000256997	P11117		UPI0000131FE1	NM_001610.2	tolerated_low_confidence(0.06)	benign(0.01)	11/11																			MODERATE	1	SNV	1			1	8.236e-06	8.332e-06	0	0	0.0001159	0	0	0	0		PASS	CCTCCCCATCT	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	T	3	4	25	47240132	47240132	C	T	1	0	0	0	0	1	0	0	0	205	623	22	3		3	ACP2	11	47240132	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	20536216	47240132	87846490	8	353											
CNTN5	53942	BI	GRCh38	chr11	100271226	100271226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccccatctcgaatgatcCgcacaaatgaagcaggtaaa	8	12	1	2	rs370172429	by1000G;byCluster	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.2299C>T	p.Arg767Cys	p.R767C	ENST00000524871	18/25	33	19	14	35			CNTN5,missense_variant,p.R767C,ENST00000524871,NM_014361.3,c.2299C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;CNTN5,missense_variant,p.R751C,ENST00000279463,,c.2251C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CNTN5,missense_variant,p.R689C,ENST00000619298,,c.2065C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CNTN5,missense_variant,p.R767C,ENST00000527185,NM_001243271.1,c.2299C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CNTN5,missense_variant,p.R767C,ENST00000528682,NM_001243270.1,c.2299C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CNTN5,missense_variant,p.R693C,ENST00000418526,NM_175566.2,c.2077C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CNTN5,non_coding_transcript_exon_variant,,ENST00000524560,,n.547C>T,MODIFIER,,,,1	T	ENST00000524871	Transcript	missense_variant	missense_variant	2589/6258	2299/3303	767/1100	R/C	Cgc/Tgc	rs370172429	1		1	CNTN5	HGNC	HGNC:2175	protein_coding	YES	CCDS53696.1	ENSP00000435637	O94779		UPI000006DAB0	NM_014361.3	deleterious(0)	probably_damaging(0.999)	18/25		Superfamily_domains:SSF49265;Superfamily_domains:SSF49265	2e-04	8e-04	0		0	0	0	3e-04	0								MODERATE	1	SNV	1			1	4.138e-05	4.347e-05	0.000211	9.038e-05	0	0.0001537	1.551e-05	0	0		PASS	TGATCCGCACA	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	T	3	4	25	100271226	100271226	C	T	1	0	0	0	0	1	0	0	0	3425	652	23	2		2	CNTN5	11	100271226	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08	53031094	100271226	34815396	9	354											
DCAF11	80344	BI	GRCh38	chr14	24119843	24119843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggaggatgaccccaagCctgtgggtgcactggctgga	17	10	0	1	rs777653791		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1039C>T	p.Pro347Ser	p.P347S	ENST00000446197	11/15	17	10	7	27			DCAF11,missense_variant,p.P347S,ENST00000446197,NM_025230.4,c.1039C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.998),1;DCAF11,missense_variant,p.P347S,ENST00000559115,NM_001163484.1,c.1039C>T,MODERATE,,deleterious(0.01),probably_damaging(0.998),1;DCAF11,missense_variant,p.P247S,ENST00000396936,,c.739C>T,MODERATE,,deleterious(0.03),probably_damaging(0.99),1;DCAF11,missense_variant,p.P321S,ENST00000396941,NM_181357.2,c.961C>T,MODERATE,,deleterious(0.01),probably_damaging(0.976),1;DCAF11,missense_variant,p.P87S,ENST00000559144,,c.259C>T,MODERATE,,tolerated(0.06),probably_damaging(0.947),1;NRL,upstream_gene_variant,,ENST00000561028,,,MODIFIER,YES,,,-1;DCAF11,downstream_gene_variant,,ENST00000557810,,,MODIFIER,,,,1;RP11-468E2.6,upstream_gene_variant,,ENST00000558325,,,MODIFIER,YES,,,1;DCAF11,downstream_gene_variant,,ENST00000559017,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000561375,,,MODIFIER,,,,1;NRL,upstream_gene_variant,,ENST00000558280,,,MODIFIER,,,,-1;DCAF11,downstream_gene_variant,,ENST00000560901,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000558408,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560459,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000558638,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000558215,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559593,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559288,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000561041,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559382,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559354,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000561001,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560713,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559796,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559396,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560171,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000561056,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000557809,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000561016,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000557952,,,MODIFIER,,,,1;DCAF11,3_prime_UTR_variant,,ENST00000557802,,c.*735C>T,MODIFIER,,,,1;DCAF11,3_prime_UTR_variant,,ENST00000326009,,c.*800C>T,MODIFIER,,,,1;DCAF11,3_prime_UTR_variant,,ENST00000558914,,c.*570C>T,MODIFIER,,,,1;DCAF11,non_coding_transcript_exon_variant,,ENST00000558624,,n.1207C>T,MODIFIER,,,,1;DCAF11,upstream_gene_variant,,ENST00000559472,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560046,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000559451,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000558706,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560457,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000557888,,,MODIFIER,,,,1;DCAF11,downstream_gene_variant,,ENST00000560614,,,MODIFIER,,,,1	T	ENST00000446197	Transcript	missense_variant	missense_variant	1766/4299	1039/1641	347/546	P/S	Cct/Tct	rs777653791	1		1	DCAF11	HGNC	HGNC:20258	protein_coding	YES	CCDS9610.1	ENSP00000415556	Q8TEB1		UPI0000073AB2	NM_025230.4	deleterious(0.01)	probably_damaging(0.998)	11/15		Pfam_domain:PF00400;PROSITE_profiles:PS50294;SMART_domains:SM00320;PIRSF_domain:PIRSF038135;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1	8.237e-06	8.54e-06	0	0	0	0.0001662	0	0	0		PASS	CCAAGCCTGTG	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	T	3	4	25	24119843	24119843	C	T	1	0	0	0	0	1	0	0	0	4063	739	26	3		3	DCAF11	14	24119843	Missense_Mutation	SNP	C	TCGA-V4-A9EW-01A-11D-A39W-08		24119843	82923875	10	355											
ZFYVE19	84936	BI	GRCh38	chr15	40807760	40807760	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtccaaggggcccAggacttggccggcgtgatct	18	10	1	2	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.171A>G	p.=	p.P57P	ENST00000355341	1/11	29	19	10	22			ZFYVE19,synonymous_variant,p.P57P,ENST00000355341,NM_001077268.1,c.171A>G,LOW,YES,,,1;ZFYVE19,synonymous_variant,p.P57P,ENST00000299173,NM_001258420.1,c.171A>G,LOW,,,,1;ZFYVE19,synonymous_variant,p.P28P,ENST00000566407,,c.84A>G,LOW,,,,1;ZFYVE19,synonymous_variant,p.P2P,ENST00000561617,,c.4A>G,LOW,,,,1;ZFYVE19,intron_variant,,ENST00000564258,NM_001258421.1,c.-247+89A>G,MODIFIER,,,,1;ZFYVE19,intron_variant,,ENST00000336455,NM_032850.4,c.125+347A>G,MODIFIER,,,,1;ZFYVE19,intron_variant,,ENST00000570108,,c.134-32A>G,MODIFIER,,,,1;DNAJC17,upstream_gene_variant,,ENST00000220496,NM_018163.2,,MODIFIER,YES,,,-1;ZFYVE19,upstream_gene_variant,,ENST00000566767,,,MODIFIER,,,,1;DNAJC17,upstream_gene_variant,,ENST00000627802,,,MODIFIER,,,,-1;AC012476.1,downstream_gene_variant,,ENST00000612414,,,MODIFIER,YES,,,-1;ZFYVE19,non_coding_transcript_exon_variant,,ENST00000563530,,n.101A>G,MODIFIER,,,,1;ZFYVE19,synonymous_variant,p.P40P,ENST00000568062,,c.119A>G,LOW,,,,1;ZFYVE19,synonymous_variant,p.P9P,ENST00000567756,,c.27A>G,LOW,,,,1;ZFYVE19,upstream_gene_variant,,ENST00000560078,,,MODIFIER,,,,1;ZFYVE19,upstream_gene_variant,,ENST00000561768,,,MODIFIER,,,,1;DNAJC17,upstream_gene_variant,,ENST00000559238,,,MODIFIER,,,,-1;ZFYVE19,upstream_gene_variant,,ENST00000569057,,,MODIFIER,,,,1;DNAJC17,upstream_gene_variant,,ENST00000560301,,,MODIFIER,,,,-1;DNAJC17,upstream_gene_variant,,ENST00000560645,,,MODIFIER,,,,-1;DNAJC17,upstream_gene_variant,,ENST00000561018,,,MODIFIER,,,,-1;DNAJC17,upstream_gene_variant,,ENST00000559310,,,MODIFIER,,,,-1;DNAJC17,upstream_gene_variant,,ENST00000560065,,,MODIFIER,,,,-1;ZFYVE19,upstream_gene_variant,,ENST00000570162,,,MODIFIER,,,,1	G	ENST00000355341	Transcript	synonymous_variant	synonymous_variant	672/2775	171/1416	57/471	P	ccA/ccG		1		1	ZFYVE19	HGNC	HGNC:20758	protein_coding	YES	CCDS42025.1	ENSP00000347498	Q96K21		UPI0000E5924A	NM_001077268.1			1/11		Low_complexity_(Seg):Seg																	LOW	1	SNV	1			1											PASS	GGCCCAGGACT	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	G	2	3	25	40807760	40807760	A	G	1	0	0	0	0	0	0	0	1	18243	175	7	4		4	ZFYVE19	15	40807760	Silent	SNP	A	TCGA-V4-A9EW-01A-11D-A39W-08		40807760	61183429	11	356											
LCAT	3931	BI	GRCh38	chr16	67942388	67942388	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccaagaccagcatgggcttGatggagccaccccagggagc	14	13	0	2	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.723C>T	p.=	p.I241I	ENST00000264005	5/6	29	25	4	28			LCAT,missense_variant,p.S24L,ENST00000570396,,c.71C>T,MODERATE,,,unknown(0),-1;LCAT,synonymous_variant,p.I241I,ENST00000264005,NM_000229.1,c.723C>T,LOW,YES,,,-1;LCAT,synonymous_variant,p.I169I,ENST00000570980,,c.507C>T,LOW,,,,-1;LCAT,synonymous_variant,p.I64I,ENST00000576450,,c.190C>T,LOW,,,,-1;LCAT,intron_variant,,ENST00000570369,,c.155+473C>T,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000316341,NM_001145961.1&NM_005072.4,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000422611,NM_001145962.1,,MODIFIER,YES,,,-1;SLC12A4,downstream_gene_variant,,ENST00000576616,,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000541864,NM_001145964.1,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000572037,,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000537830,NM_001145963.1,,MODIFIER,,,,-1;LCAT,synonymous_variant,p.I122I,ENST00000573538,,c.366C>T,LOW,,,,-1;LCAT,3_prime_UTR_variant,,ENST00000575467,,c.*418C>T,MODIFIER,,,,-1;LCAT,non_coding_transcript_exon_variant,,ENST00000573846,,n.337C>T,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000570802,,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000573023,,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000575857,,,MODIFIER,,,,-1;LCAT,downstream_gene_variant,,ENST00000575277,,,MODIFIER,,,,-1;SLC12A4,downstream_gene_variant,,ENST00000570616,,,MODIFIER,,,,-1	A	ENST00000264005	Transcript	synonymous_variant	synonymous_variant	753/1507	723/1323	241/440	I	atC/atT		1		-1	LCAT	HGNC	HGNC:6522	protein_coding	YES	CCDS10854.1	ENSP00000264005	P04180		UPI0000000DE7	NM_000229.1			5/6		Pfam_domain:PF02450;Superfamily_domains:SSF53474																	LOW	1	SNV	1			1											PASS	GGCTTGATGGA	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0			True	Unknown	A	2	1	25	67942388	67942388	G	A	1	0	0	0	0	0	0	0	1	8563	1280	45	3		3	LCAT	16	67942388	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		67942388	22395957	12	357											
RUNDC1	146923	BI	GRCh38	chr17	42991290	42991290	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagaggccatgcacccGtgggagctctttgtaaagta	12	12	1	1	rs749457403	byFrequency	TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.1416G>A	p.=	p.P472P	ENST00000361677	5/5	68	56	12	66			RUNDC1,synonymous_variant,p.P472P,ENST00000361677,NM_173079.2,c.1416G>A,LOW,YES,,,1;RUNDC1,downstream_gene_variant,,ENST00000589705,,,MODIFIER,,,,1;AC055866.1,downstream_gene_variant,,ENST00000628087,,,MODIFIER,YES,,,-1	A	ENST00000361677	Transcript	synonymous_variant	synonymous_variant	1428/3828	1416/1842	472/613	P	ccG/ccA	rs749457403	1		1	RUNDC1	HGNC	HGNC:25418	protein_coding	YES	CCDS11448.1	ENSP00000354622	Q96C34		UPI00001AED0E	NM_173079.2			5/5		Pfam_domain:PF02759;PROSITE_profiles:PS50826																	LOW	1	SNV	1			1	3.295e-05	3.296e-05	0	8.639e-05	0	0	2.997e-05	0	6.056e-05		panel_of_normals	CACCCGTGGGA	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0	gdc_pon		True	Unknown	A	2	1	25	42991290	42991290	G	A	1	0	0	0	0	0	0	0	1	14004	1132	40	1		1	RUNDC1	17	42991290	Silent	SNP	G	TCGA-V4-A9EW-01A-11D-A39W-08		42991290	40266151	13	358											
MAOB	4129	BI	GRCh38	chrX	43843766	43843766	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtttggctgctgccataccTgggagaaaagacagtaagac	12	8	0	3	novel		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	c.47-2A>T		p.X16_splice	ENST00000378069		64	53	11	71			MAOB,splice_acceptor_variant,p.X16_splice,ENST00000378069,NM_000898.4,c.47-2A>T,HIGH,YES,,,-1;MAOB,splice_acceptor_variant,,ENST00000487544,,n.373-2A>T,HIGH,,,,-1;MAOB,downstream_gene_variant,,ENST00000468431,,,MODIFIER,,,,-1	A	ENST00000378069	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/2566	47/1563	16/520				1		-1	MAOB	HGNC	HGNC:6834	protein_coding	YES	CCDS14261.1	ENSP00000367309	P27338		UPI0000049071	NM_000898.4				1/14																		HIGH	1	SNV	1			1											PASS	ATACCTGGGAG	c543152a-1ce2-4456-a77a-7b89bc14663b	7802fbcd-e56e-4fd8-9370-7da1b0d38a08	6e1d28ac-313d-46eb-8db2-9e4216cb1ed7	6be5176c-4980-4663-adff-d04f05737da0	NonExonic		True	Unknown	A	5	1	25	43843766	43843766	T	A	1	0	0	0	0	0	0	1	0	9148	1594	55	5		5	MAOB	23	43843766	Splice_Site	SNP	T	TCGA-V4-A9EW-01A-11D-A39W-08		43843766	112197129	14	359											
AIM1L	55057	BI	GRCh38	chr1	26328749	26328749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacatgccccccttgatcCgcacagacagcacatggttg	8	16	1	2	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.4439G>A	p.Arg1480Gln	p.R1480Q	ENST00000308182	16/20	102	71	31	99			AIM1L,missense_variant,p.R1480Q,ENST00000308182,NM_001039775.3,c.4439G>A,MODERATE,YES,tolerated(0.15),benign(0.129),-1;AIM1L,missense_variant,p.R606Q,ENST00000527815,,c.1817G>A,MODERATE,,tolerated(0.43),benign(0.017),-1;AIM1L,downstream_gene_variant,,ENST00000429942,,,MODIFIER,,,,-1;AIM1L,upstream_gene_variant,,ENST00000374211,,,MODIFIER,,,,-1;AIM1L,downstream_gene_variant,,ENST00000522923,,,MODIFIER,,,,-1;AIM1L,upstream_gene_variant,,ENST00000374208,,,MODIFIER,,,,-1;AIM1L,non_coding_transcript_exon_variant,,ENST00000520372,,n.414G>A,MODIFIER,,,,-1;RP11-569G9.7,downstream_gene_variant,,ENST00000434718,,,MODIFIER,YES,,,1	T	ENST00000308182	Transcript	missense_variant	missense_variant	4589/5245	4439/4986	1480/1661	R/Q	cGg/cAg		1		-1	AIM1L	HGNC	HGNC:17295	protein_coding	YES		ENSP00000310435	Q8N1P7		UPI0001DD21C3	NM_001039775.3	tolerated(0.15)	benign(0.129)	16/20		Pfam_domain:PF00030;SMART_domains:SM00247;Superfamily_domains:SSF49695																	MODERATE	1	SNV	5			1											PASS	TGATCCGCACA	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	T	3	4	26	26328749	26328749	C	T	1	0	0	0	0	1	0	0	0	508	652	23	2		2	AIM1L	1	26328749	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		26328749	222627673	1	360											
ATG9A	79065	BI	GRCh38	chr2	219221302	219221302	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcctgctgcttgtggaGctggagaaatggggggctcg	19	8	0	1	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.2146C>G	p.Leu716Val	p.L716V	ENST00000361242	14/16	17	12	5	18			ATG9A,missense_variant,p.L716V,ENST00000409618,,c.2146C>G,MODERATE,YES,tolerated(0.11),benign(0.02),-1;ATG9A,missense_variant,p.L716V,ENST00000396761,NM_024085.4,c.2146C>G,MODERATE,,tolerated(0.11),benign(0.02),-1;ATG9A,missense_variant,p.L716V,ENST00000361242,NM_001077198.2,c.2146C>G,MODERATE,,tolerated(0.11),benign(0.02),-1;ATG9A,missense_variant,p.L655V,ENST00000409422,,c.1963C>G,MODERATE,,tolerated(0.12),benign(0.02),-1;ATG9A,splice_region_variant,p.G235G,ENST00000429920,,c.705C>G,LOW,,,,-1;ABCB6,upstream_gene_variant,,ENST00000265316,NM_005689.2,,MODIFIER,YES,,,-1;ABCB6,upstream_gene_variant,,ENST00000295750,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000436856,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000432520,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000428226,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000457841,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000443140,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000439812,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000431715,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000434939,,,MODIFIER,,,,-1;AC068946.1,downstream_gene_variant,,ENST00000408417,,,MODIFIER,YES,,,-1;ATG9A,missense_variant,p.L132V,ENST00000446716,,c.392C>G,MODERATE,,tolerated(0.06),probably_damaging(0.986),-1;ATG9A,splice_region_variant,,ENST00000409033,,c.*500C>G,LOW,,,,-1;ATG9A,splice_region_variant,,ENST00000475339,,n.200C>G,LOW,,,,-1;ABCB6,upstream_gene_variant,,ENST00000448398,,,MODIFIER,,,,-1;ABCB6,upstream_gene_variant,,ENST00000417678,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000466217,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000486766,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000456708,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000412355,,,MODIFIER,,,,-1;ATG9A,downstream_gene_variant,,ENST00000455079,,,MODIFIER,,,,-1;ABCB6,upstream_gene_variant,,ENST00000452545,,,MODIFIER,,,,-1	C	ENST00000361242	Transcript	missense_variant	missense_variant;splice_region_variant	2363/3130	2146/2520	716/839	L/V	Ctc/Gtc		1		-1	ATG9A	HGNC	HGNC:22408	protein_coding		CCDS42820.1	ENSP00000355173	Q7Z3C6	A0A024R438	UPI0000209615	NM_001077198.2	tolerated(0.11)	benign(0.02)	14/16																			MODERATE		SNV	2			1											PASS	GTGGAGCTGGA	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	C	3	2	26	219221302	219221302	G	C	1	0	0	0	0	1	0	0	0	1254	985	34	5		5	ATG9A	2	219221302	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		219221302	22972227	2	361											
PTPN23	25930	BI	GRCh38	chr3	47412576	47412576	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtcctgcagcgccaTggtgtgcctcctccatgcaa	12	14	0	0	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.4380T>C	p.=	p.H1460H	ENST00000265562	24/25	15	3	12	54			PTPN23,synonymous_variant,p.H1460H,ENST00000265562,NM_015466.2,c.4380T>C,LOW,YES,,,1;SCAP,downstream_gene_variant,,ENST00000265565,NM_012235.2,,MODIFIER,YES,,,-1;SCAP,downstream_gene_variant,,ENST00000428413,,,MODIFIER,,,,-1;SCAP,downstream_gene_variant,,ENST00000545718,,,MODIFIER,,,,-1;PTPN23,3_prime_UTR_variant,,ENST00000602307,NM_001304482.1,c.*4057T>C,MODIFIER,,,,1;SCAP,downstream_gene_variant,,ENST00000441517,,,MODIFIER,,,,-1;SCAP,downstream_gene_variant,,ENST00000320017,,,MODIFIER,,,,-1;PTPN23,downstream_gene_variant,,ENST00000495653,,,MODIFIER,,,,1	C	ENST00000265562	Transcript	synonymous_variant	synonymous_variant	4457/5244	4380/4911	1460/1636	H	caT/caC		1		1	PTPN23	HGNC	HGNC:14406	protein_coding	YES	CCDS2754.1	ENSP00000265562	Q9H3S7		UPI000006EBC4	NM_015466.2			24/25		Superfamily_domains:SSF52799																	LOW	1	SNV	1			1											PASS	CGCCATGGTGT	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	C	2	2	26	47412576	47412576	T	C	1	0	0	0	0	0	0	0	1	12942	1461	51	4		4	PTPN23	3	47412576	Silent	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08		47412576	150882983	3	362											
BAP1	8314	BI	GRCh38	chr3	52409558	52409558	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtacagccactcacccctGacatttgctctgaaggtcgt	9	13	2	2			TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.118C>T	p.Gln40Ter	p.Q40*	ENST00000460680	3/17	130	25	105	231			BAP1,stop_gained,p.Q40*,ENST00000460680,NM_004656.3,c.118C>T,HIGH,YES,,,-1;BAP1,stop_gained,p.Q40*,ENST00000296288,,c.118C>T,HIGH,,,,-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-120C>T,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000461861,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,stop_gained,p.Q40*,ENST00000490917,,c.118C>T,HIGH,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.118C>T,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	A	ENST00000460680	Transcript	stop_gained	stop_gained	590/3937	118/2190	40/729	Q/*	Cag/Tag		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			3/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	HIGH	1	SNV	1			1											PASS	CCCCTGACATT	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11		COSM96361	True	Unknown	A	4	1	26	52409558	52409558	G	A	1	0	0	0	0	0	1	0	0	1463	1304	45	3		3	BAP1	3	52409558	Nonsense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08	4996982	52409558	145886001	4	363											
BRD2	6046	BI	GRCh38	chr6	32974759	32974760	+	Frame_Shift_Del	DEL	TC	TC	-													gtggatgctgtcaaactgggTctaccggtgagtagagacat					novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.328_329delCT	p.Leu110ThrfsTer17	p.L110Tfs*17	ENST00000374825	3/13	37	34	3	28			BRD2,frameshift_variant,p.L110Tfs*17,ENST00000374825,NM_005104.3,c.328_329delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L110Tfs*17,ENST00000374831,NM_001113182.2,c.328_329delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L110Tfs*17,ENST00000395287,NM_001199455.1,c.328_329delCT,HIGH,YES,,,1;BRD2,frameshift_variant,p.L63Tfs*17,ENST00000449085,NM_001199456.1,c.187_188delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L116Tfs*17,ENST00000449025,,c.345_346delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L110Tfs*17,ENST00000607833,,c.328_329delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L112Tfs*17,ENST00000456339,,c.333_334delCT,HIGH,,,,1;BRD2,downstream_gene_variant,,ENST00000496118,,,MODIFIER,,,,1;BRD2,upstream_gene_variant,,ENST00000606059,,,MODIFIER,,,,1;XXbac-BPG181M17.6,upstream_gene_variant,,ENST00000580587,,,MODIFIER,YES,,,-1;BRD2-IT1,downstream_gene_variant,,ENST00000415875,,,MODIFIER,YES,,,1;BRD2,downstream_gene_variant,,ENST00000580234,,,MODIFIER,,,,1;BRD2,downstream_gene_variant,,ENST00000581002,,,MODIFIER,,,,1;BRD2,downstream_gene_variant,,ENST00000584808,,,MODIFIER,,,,1;BRD2,frameshift_variant,p.L110Tfs*17,ENST00000482914,NM_001291986.1,c.328_329delCT,HIGH,,,,1;BRD2,frameshift_variant,p.L110Tfs*17,ENST00000495733,,c.328_329delCT,HIGH,,,,1;BRD2,upstream_gene_variant,,ENST00000469132,,,MODIFIER,,,,1;BRD2,upstream_gene_variant,,ENST00000464592,,,MODIFIER,,,,1;BRD2,upstream_gene_variant,,ENST00000463639,,,MODIFIER,,,,1;BRD2,upstream_gene_variant,,ENST00000482838,,,MODIFIER,,,,1;BRD2,upstream_gene_variant,,ENST00000481259,,,MODIFIER,,,,1	-	ENST00000374825	Transcript	frameshift_variant	frameshift_variant	2028-2029/4894	327-328/2406	109-110/801	GL/GX	ggTCta/ggta		1		1	BRD2	HGNC	HGNC:1103	protein_coding		CCDS4762.1	ENSP00000363958	P25440	A0A024RCR5	UPI0000126ACC	NM_005104.3			3/13		Pfam_domain:PF00439;Prints_domain:PR00503;PROSITE_profiles:PS50014;SMART_domains:SM00297;Superfamily_domains:SSF47370																	HIGH		deletion	1	1		1											PASS	ACTGGGTCTACCG	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			False	Unknown	-	7	5	26	32974759	32974759	TC	-	1	0	1	0	1	0	0	0	0	1672	1654	58	0		0	BRD2	6	32974759	Frame_Shift_Del	DEL	TC	TCGA-V4-A9EX-01A-11D-A39W-08		32974759	137831220	5	364											
SLC18B1	116843	BI	GRCh38	chr6	132784027	132784027	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatagccaaaggattgataCaaaaagccacctacaggagg	9	9	1	1	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.564G>A	p.=	p.L188L	ENST00000275227	6/14	80	64	16	93			SLC18B1,synonymous_variant,p.L188L,ENST00000275227,NM_052831.2,c.564G>A,LOW,YES,,,-1;SLC18B1,intron_variant,,ENST00000367918,,c.232+6197G>A,MODIFIER,,,,-1;SLC18B1,downstream_gene_variant,,ENST00000460518,,,MODIFIER,,,,-1	T	ENST00000275227	Transcript	synonymous_variant	synonymous_variant	661/2368	564/1371	188/456	L	ttG/ttA		1		-1	SLC18B1	HGNC	HGNC:21573	protein_coding	YES	CCDS5163.1	ENSP00000275227	Q6NT16		UPI000013DA50	NM_052831.2			6/14		Low_complexity_(Seg):Seg;Pfam_domain:PF07690;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473																	LOW	1	SNV	1			1											PASS	TGATACAAAAA	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	T	2	4	26	132784027	132784027	C	T	1	0	0	0	0	0	0	0	1	14693	477	17	3		3	SLC18B1	6	132784027	Silent	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	99809268	132784027	38021952	6	365											
ARFGEF3	57221	BI	GRCh38	chr6	138286913	138286913	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgcacggctgagctgcgctCtaggtaccagcgggagtagt	15	12	1	1	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.2782C>G	p.Leu928Val	p.L928V	ENST00000251691	16/34	11	6	5	26			ARFGEF3,missense_variant,p.L928V,ENST00000251691,NM_020340.4,c.2782C>G,MODERATE,YES,deleterious(0),probably_damaging(0.997),1	G	ENST00000251691	Transcript	missense_variant	missense_variant	2948/14877	2782/6534	928/2177	L/V	Cta/Gta		1		1	ARFGEF3	HGNC	HGNC:21213	protein_coding	YES	CCDS5189.2	ENSP00000251691	Q5TH69	C5NM88	UPI000150AF4A	NM_020340.4	deleterious(0)	probably_damaging(0.997)	16/34		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	GCGCTCTAGGT	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	G	3	3	26	138286913	138286913	C	G	1	0	0	0	0	1	0	0	0	977	927	32	5		5	ARFGEF3	6	138286913	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	5502886	138286913	32519066	7	366											
GLIS3	169792	BI	GRCh38	chr9	3856041	3856041	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taccatttggttgaaaagaaGagtttgtttctggctgatag	11	4	1	4	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.1976C>T	p.Ser659Phe	p.S659F	ENST00000324333	8/10	115	61	54	94			GLIS3,missense_variant,p.S659F,ENST00000324333,NM_152629.3,c.1976C>T,MODERATE,,tolerated(0.19),probably_damaging(0.962),-1;GLIS3,missense_variant,p.S814F,ENST00000381971,NM_001042413.1,c.2441C>T,MODERATE,YES,tolerated(0.42),possibly_damaging(0.776),-1;GLIS3,non_coding_transcript_exon_variant,,ENST00000461870,,n.797C>T,MODIFIER,,,,-1;GLIS3,non_coding_transcript_exon_variant,,ENST00000467497,,n.981C>T,MODIFIER,,,,-1	A	ENST00000324333	Transcript	missense_variant	missense_variant	2170/6667	1976/2328	659/775	S/F	tCt/tTt		1		-1	GLIS3	HGNC	HGNC:28510	protein_coding		CCDS6451.1	ENSP00000325494	Q8NEA6		UPI00003675FE	NM_152629.3	tolerated(0.19)	probably_damaging(0.962)	8/10																			MODERATE		SNV	1			1											PASS	AAGAAGAGTTT	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	A	3	1	26	3856041	3856041	G	A	1	0	0	0	0	1	0	0	0	6325	942	33	3		3	GLIS3	9	3856041	Missense_Mutation	SNP	G	TCGA-V4-A9EX-01A-11D-A39W-08		3856041	134538676	8	367											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	87	44	43	105			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11		COSM28758	True	Unknown	G	3	3	26	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EX-01A-11D-A39W-08	73938531	77794572	60600145	9	368											
SMC2	10592	BI	GRCh38	chr9	104116299	104116299	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgtattgcaccagaaactCtgagagttgctcagaatctt	9	8	3	3	novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.1771C>A	p.Leu591Met	p.L591M	ENST00000286398	14/25	30	26	4	43			SMC2,missense_variant,p.L591M,ENST00000286398,NM_006444.2&NM_001265602.1&NM_001042551.1,c.1771C>A,MODERATE,YES,deleterious(0),benign(0.358),1;SMC2,missense_variant,p.L591M,ENST00000374793,,c.1771C>A,MODERATE,,deleterious(0),benign(0.358),1;SMC2,missense_variant,p.L591M,ENST00000374787,NM_001042550.1,c.1771C>A,MODERATE,,deleterious(0),benign(0.358),1	A	ENST00000286398	Transcript	missense_variant	missense_variant	2075/5992	1771/3594	591/1197	L/M	Ctg/Atg		1		1	SMC2	HGNC	HGNC:14011	protein_coding	YES	CCDS35086.1	ENSP00000286398	O95347	A0A024R158	UPI000013DE44	NM_006444.2;NM_001265602.1;NM_001042551.1	deleterious(0)	benign(0.358)	14/25		Pfam_domain:PF02463;Pfam_domain:PF06470;SMART_domains:SM00968;Superfamily_domains:SSF52540;Superfamily_domains:SSF75553																	MODERATE	1	SNV	1			1											PASS	AAACTCTGAGA	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			False	Unknown	A	3	1	26	104116299	104116299	C	A	1	0	0	0	0	1	0	0	0	15076	912	32	5		5	SMC2	9	104116299	Missense_Mutation	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08	26321727	104116299	34278418	10	369											
KIAA1551	55196	BI	GRCh38	chr12	31984714	31984714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattttcctgaactacaagaCgacagtagaaaagatacacc	6	10	0	4	rs150095870	byCluster	TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.3759C>T	p.=	p.D1253D	ENST00000312561	4/6	66	39	27	52			KIAA1551,synonymous_variant,p.D1253D,ENST00000312561,NM_018169.3,c.3759C>T,LOW,YES,,,1;KIAA1551,downstream_gene_variant,,ENST00000381054,,,MODIFIER,,,,1;KIAA1551,downstream_gene_variant,,ENST00000540924,,,MODIFIER,,,,1;KIAA1551,intron_variant,,ENST00000535596,,n.318-2525C>T,MODIFIER,,,,1;KIAA1551,intron_variant,,ENST00000397578,,n.139-2525C>T,MODIFIER,,,,1;KIAA1551,intron_variant,,ENST00000541981,,n.218-7664C>T,MODIFIER,,,,1;KIAA1551,upstream_gene_variant,,ENST00000543763,,,MODIFIER,,,,1	T	ENST00000312561	Transcript	synonymous_variant	synonymous_variant	4173/6230	3759/5244	1253/1747	D	gaC/gaT	rs150095870	1		1	KIAA1551	HGNC	HGNC:25559	protein_coding	YES	CCDS8725.2	ENSP00000310338	Q9HCM1			NM_018169.3			4/6										0	1e-04								LOW	1	SNV	1			1	6.589e-05	6.684e-05	0	8.691e-05	0	0	7.598e-05	0	0.0001238		PASS	CAAGACGACAG	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	T	2	4	26	31984714	31984714	C	T	1	0	0	0	0	0	0	0	1	8122	535	19	1		1	KIAA1551	12	31984714	Silent	SNP	C	TCGA-V4-A9EX-01A-11D-A39W-08		31984714	101290595	11	370											
DMXL2	23312	BI	GRCh38	chr15	51499021	51499022	+	Frame_Shift_Ins	INS	-	-	A													cctttgctgtactgccacttINSacactaatagttcgagagag					novel		TCGA-V4-A9EX-01A-11D-A39W-08	TCGA-V4-A9EX-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	97116c78-ac2a-4d7f-803b-1d829e737070	de0d7475-70ab-4147-b388-97e0e414bc7d	c.4202dupT	p.Ser1402LysfsTer21	p.S1402Kfs*21	ENST00000251076	18/43	186	108	78	175			DMXL2,frameshift_variant,p.S1402Kfs*21,ENST00000251076,NM_015263.3,c.4202dupT,HIGH,,,,-1;DMXL2,frameshift_variant,p.S1402Kfs*21,ENST00000543779,NM_001174116.1,c.4202dupT,HIGH,YES,,,-1;DMXL2,intron_variant,,ENST00000449909,NM_001174117.1,c.2765-3888dupT,MODIFIER,,,,-1;RP11-707P17.1,downstream_gene_variant,,ENST00000561007,,,MODIFIER,YES,,,1	A	ENST00000251076	Transcript	frameshift_variant	frameshift_variant	4490-4491/10672	4202-4203/9111	1401/3036	V/VX	gta/gtTa		1		-1	DMXL2	HGNC	HGNC:2938	protein_coding		CCDS10141.1	ENSP00000251076	Q8TDJ6	A0A024R5V2	UPI000013CCDD	NM_015263.3			18/43																			HIGH		insertion	1			1											PASS	CCACTTACACT	96d16f7b-dec0-4ab3-a762-73d6e57308de	221a1c9a-c8d4-44e1-a808-ae6d5f23526d	afd43881-f91e-408a-b3c0-4add2e48e3fa	892e7630-b11e-47bd-987c-327d33258e11			True	Unknown	A	7	5	26	51499021	51499021	-	A	1	0	1	1	0	0	0	0	0	4404	1741	61	0		0	DMXL2	15	51499021	Frame_Shift_Ins	INS	-	TCGA-V4-A9EX-01A-11D-A39W-08		51499021	50492168	12	371											
CHD5	26038	BI	GRCh38	chr1	6154712	6154712	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacaggctggggcacctgCggggggctgacggctagcgg	21	11	0	1	rs141326175	byCluster	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.693G>A	p.=	p.P231P	ENST00000262450	5/42	77	42	35	36			CHD5,synonymous_variant,p.P231P,ENST00000262450,NM_015557.2,c.693G>A,LOW,YES,,,-1;CHD5,synonymous_variant,p.P231P,ENST00000496404,,c.693G>A,LOW,,,,-1	T	ENST00000262450	Transcript	synonymous_variant	synonymous_variant	793/9646	693/5865	231/1954	P	ccG/ccA	rs141326175	1		-1	CHD5	HGNC	HGNC:16816	protein_coding	YES	CCDS57.1	ENSP00000262450	Q8TDI0			NM_015557.2			5/42		Low_complexity_(Seg):Seg								0	4e-04								LOW	1	SNV	1			1	6.601e-05	6.437e-05	0	0	0.0002356	0	8.159e-05	0	0		panel_of_normals	ACCTGCGGGGG	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5	gdc_pon	COSM911260	True	Unknown	T	2	4	27	6154712	6154712	C	T	1	0	0	0	0	0	0	0	1	3087	755	27	2		2	CHD5	1	6154712	Silent	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		6154712	242801710	1	372											
DNAJC8	22826	BI	GRCh38	chr1	28228995	28228995	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgatttttcgaagttagaAccgagtctctcttctctatt	6	9	4	2	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.107T>C	p.Val36Ala	p.V36A	ENST00000263697	2/9	103	55	48	80			DNAJC8,missense_variant,p.V36A,ENST00000263697,NM_014280.2,c.107T>C,MODERATE,YES,tolerated(0.08),benign(0.138),-1;DNAJC8,non_coding_transcript_exon_variant,,ENST00000489277,,n.256T>C,MODIFIER,,,,-1;DNAJC8,non_coding_transcript_exon_variant,,ENST00000488868,,n.251T>C,MODIFIER,,,,-1;DNAJC8,non_coding_transcript_exon_variant,,ENST00000482674,,n.113T>C,MODIFIER,,,,-1	G	ENST00000263697	Transcript	missense_variant	missense_variant	134/1759	107/762	36/253	V/A	gTt/gCt		1		-1	DNAJC8	HGNC	HGNC:15470	protein_coding	YES	CCDS41292.1	ENSP00000263697	O75937		UPI0000072BF3	NM_014280.2	tolerated(0.08)	benign(0.138)	2/9																			MODERATE	1	SNV	1			1											PASS	TTAGAACCGAG	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	G	3	3	27	28228995	28228995	A	G	1	0	0	0	0	1	0	0	0	4468	43	2	4		4	DNAJC8	1	28228995	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	22074283	28228995	220727427	2	373											
KRCC1	51315	BI	GRCh38	chr2	88028011	88028011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtctaagtcaatttcctCgcagcttttttttctcttat	4	9	3	0	rs61734751	by1000G;byCluster;byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.553G>A	p.Glu185Lys	p.E185K	ENST00000347055	4/4	83	62	21	137			KRCC1,missense_variant,p.E185K,ENST00000347055,NM_016618.1,c.553G>A,MODERATE,YES,tolerated(0.06),possibly_damaging(0.796),-1	T	ENST00000347055	Transcript	missense_variant	missense_variant	947/1753	553/780	185/259	E/K	Gag/Aag	rs61734751	1		-1	KRCC1	HGNC	HGNC:28039	protein_coding	YES	CCDS2000.1	ENSP00000340083	Q9NPI7	A0A024R5P4	UPI000004A006	NM_016618.1	tolerated(0.06)	possibly_damaging(0.796)	4/4		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50318	0.0014	0.0053	0		0	0	0	0.0054	0								MODERATE	1	SNV	1			1	0.0005354	0.000536	0.005832	0.0001728	0.0002312	0	1.499e-05	0	0		panel_of_normals	TTCCTCGCAGC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5	common_in_exac;gdc_pon		True	Unknown	T	3	4	27	88028011	88028011	C	T	1	0	0	0	0	1	0	0	0	8323	893	31	2		2	KRCC1	2	88028011	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		88028011	154165518	3	374											
ST6GAL2	84620	BI	GRCh38	chr2	106843149	106843149	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcgggcaccaggcgccGccagcccagcgcagaaaagg	15	16	0	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.829C>T	p.Arg277Trp	p.R277W	ENST00000361686	2/6	7	2	5	9			ST6GAL2,missense_variant,p.R277W,ENST00000409382,NM_001142351.1,c.829C>T,MODERATE,YES,,possibly_damaging(0.849),-1;ST6GAL2,missense_variant,p.R277W,ENST00000361686,NM_032528.2,c.829C>T,MODERATE,,,possibly_damaging(0.849),-1;ST6GAL2,missense_variant,p.R277W,ENST00000409087,NM_001142352.1,c.829C>T,MODERATE,,,possibly_damaging(0.84),-1;ST6GAL2,downstream_gene_variant,,ENST00000419159,,,MODIFIER,,,,-1;AC016994.2,downstream_gene_variant,,ENST00000425419,,,MODIFIER,YES,,,1	A	ENST00000361686	Transcript	missense_variant	missense_variant	1018/6857	829/1590	277/529	R/W	Cgg/Tgg		1		-1	ST6GAL2	HGNC	HGNC:10861	protein_coding		CCDS2073.1	ENSP00000355273	Q96JF0			NM_032528.2		possibly_damaging(0.849)	2/6		Pfam_domain:PF00777																	MODERATE		SNV	1			1											PASS	GCGCCGCCAGC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5		COSM3390840;COSM3390841	False	Unknown	A	3	1	27	106843149	106843149	G	A	1	0	0	0	0	1	0	0	0	15600	1086	38	2		2	ST6GAL2	2	106843149	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	18815138	106843149	135350380	4	375											
EPC2	26122	BI	GRCh38	chr2	148771274	148771274	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggctactaaatttacAggacagtgatagtgaagaat	10	6	0	3	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.1607A>G	p.Gln536Arg	p.Q536R	ENST00000258484	10/14	115	67	48	71			EPC2,missense_variant,p.Q536R,ENST00000258484,NM_015630.3,c.1607A>G,MODERATE,YES,tolerated(0.14),benign(0.007),1	G	ENST00000258484	Transcript	missense_variant	missense_variant	1641/3649	1607/2424	536/807	Q/R	cAg/cGg		1		1	EPC2	HGNC	HGNC:24543	protein_coding	YES	CCDS46422.1	ENSP00000258484	Q52LR7		UPI00005A7FE2	NM_015630.3	tolerated(0.14)	benign(0.007)	10/14																			MODERATE	1	SNV	1			1											PASS	TTTACAGGACA	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	G	3	3	27	148771274	148771274	A	G	1	0	0	0	0	1	0	0	0	5007	188	7	4		4	EPC2	2	148771274	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08	41928125	148771274	93422255	5	376											
ARPC2	10109	BI	GRCh38	chr2	218228749	218228749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcacagatttcgatgggGtcctctatcatatttcaaat	6	10	4	1	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.121G>A	p.Val41Ile	p.V41I	ENST00000295685	3/10	46	23	23	43			ARPC2,missense_variant,p.V41I,ENST00000295685,NM_005731.3,c.121G>A,MODERATE,YES,deleterious(0.02),benign(0.111),1;ARPC2,missense_variant,p.V41I,ENST00000315717,NM_152862.2,c.121G>A,MODERATE,,deleterious(0.02),benign(0.111),1;ARPC2,missense_variant,p.V41I,ENST00000420104,,c.121G>A,MODERATE,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000491780,,n.235G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000478612,,n.108G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000480062,,n.105G>A,MODIFIER,,,,1;ARPC2,upstream_gene_variant,,ENST00000484961,,,MODIFIER,,,,1;ARPC2,missense_variant,p.V41I,ENST00000420201,,c.121G>A,MODERATE,,tolerated(0.07),benign(0.323),1;ARPC2,3_prime_UTR_variant,,ENST00000414983,,c.*106G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000489598,,n.237G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000465395,,n.137G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000471355,,n.48G>A,MODIFIER,,,,1;ARPC2,non_coding_transcript_exon_variant,,ENST00000472753,,n.48G>A,MODIFIER,,,,1;ARPC2,upstream_gene_variant,,ENST00000470146,,,MODIFIER,,,,1	A	ENST00000295685	Transcript	missense_variant	missense_variant	382/1605	121/903	41/300	V/I	Gtc/Atc		1		1	ARPC2	HGNC	HGNC:705	protein_coding	YES	CCDS2410.1	ENSP00000295685	O15144	Q53R19	UPI0000125D3D	NM_005731.3	deleterious(0.02)	benign(0.111)	3/10		Superfamily_domains:SSF69645																	MODERATE	1	SNV	1			1											PASS	ATGGGGTCCTC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	A	3	1	27	218228749	218228749	G	A	1	0	0	0	0	1	0	0	0	1113	1261	44	3		3	ARPC2	2	218228749	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08	69457475	218228749	23964780	6	377											
AMOTL2	51421	BI	GRCh38	chr3	134357722	134357722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagatcagtatctccaCcatgtctgacaagtcctgga	7	13	4	2	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.2323G>A	p.Val775Met	p.V775M	ENST00000422605	10/10	173	113	60	131			AMOTL2,missense_variant,p.V833M,ENST00000514516,NM_001278683.1,c.2497G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;AMOTL2,missense_variant,p.V776M,ENST00000249883,NM_016201.3,c.2326G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;AMOTL2,missense_variant,p.V775M,ENST00000422605,,c.2323G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;AMOTL2,missense_variant,p.V773M,ENST00000513145,NM_001278685.1,c.2317G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;RPL39P5,upstream_gene_variant,,ENST00000273411,,,MODIFIER,YES,,,-1;AMOTL2,non_coding_transcript_exon_variant,,ENST00000506326,,n.1699G>A,MODIFIER,,,,-1	T	ENST00000422605	Transcript	missense_variant	missense_variant	2490/4335	2323/2340	775/779	V/M	Gtg/Atg		1		-1	AMOTL2	HGNC	HGNC:17812	protein_coding			ENSP00000409999	Q9Y2J4				deleterious(0)	probably_damaging(0.999)	10/10																			MODERATE		SNV	5			1											PASS	CTCCACCATGT	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	T	3	4	27	134357722	134357722	C	T	1	0	0	0	0	1	0	0	0	682	507	18	3		3	AMOTL2	3	134357722	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		134357722	63937837	7	378											
APC	324	BI	GRCh38	chr5	112834981	112834981	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagcgtattgagtgccTtatggaatttgtcagcacat	9	7	2	1	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.1774T>G	p.Leu592Val	p.L592V	ENST00000257430	15/16	96	50	46	75			APC,missense_variant,p.L592V,ENST00000257430,NM_000038.5,c.1774T>G,MODERATE,YES,,benign(0.332),1;APC,missense_variant,p.L592V,ENST00000508376,NM_001127510.2,c.1774T>G,MODERATE,,,benign(0.332),1;APC,missense_variant,p.L592V,ENST00000512211,,c.1774T>G,MODERATE,,,,1;APC,missense_variant,p.L574V,ENST00000507379,NM_001127511.2,c.1720T>G,MODERATE,,deleterious(0),possibly_damaging(0.613),1;APC,missense_variant,p.L155V,ENST00000504915,,c.463T>G,MODERATE,,deleterious(0.02),possibly_damaging(0.813),1;APC,missense_variant,p.L43R,ENST00000502371,,c.127T>G,MODERATE,,tolerated_low_confidence(0.09),possibly_damaging(0.887),1;APC,3_prime_UTR_variant,,ENST00000508624,,c.*1096T>G,MODIFIER,,,,1;CTC-554D6.1,intron_variant,,ENST00000520401,,c.230+6009T>G,MODIFIER,YES,,,1	G	ENST00000257430	Transcript	missense_variant	missense_variant	1830/10701	1774/8532	592/2843	L/V	Tta/Gta		1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5		benign(0.332)	15/16		SMART_domains:SM00185;Superfamily_domains:SSF48371																	MODERATE		SNV	5			1											PASS	GTGCCTTATGG	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	G	3	3	27	112834981	112834981	T	G	1	0	0	0	0	1	0	0	0	883	1606	56	5		5	APC	5	112834981	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		112834981	68703278	8	379											
PLEKHF2	79666	BI	GRCh38	chr8	95154267	95154325	+	Frame_Shift_Del	DEL	AACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGG	AACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGG	-													tcatccagaagaaaaaatatAacaaacaacatattattccc					novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.224_282delACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGGA	p.Asn75ArgfsTer13	p.N75Rfs*13	ENST00000315367	2/2	162	96	66	166			PLEKHF2,frameshift_variant,p.N75Rfs*13,ENST00000315367,NM_024613.3,c.224_282delACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGGA,HIGH,YES,,,1;PLEKHF2,frameshift_variant,p.N75Rfs*13,ENST00000519516,,c.224_282delACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGGA,HIGH,,,,1	-	ENST00000315367	Transcript	frameshift_variant	frameshift_variant	464-522/2881	223-281/750	75-94/249	NKQHIIPLENVTIDSIKDEG/X	AACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGGa/a		1		1	PLEKHF2	HGNC	HGNC:20757	protein_coding	YES	CCDS6267.1	ENSP00000322373	Q9H8W4		UPI0000035DB0	NM_024613.3			2/2		Pfam_domain:PF00169;PROSITE_profiles:PS50003;SMART_domains:SM00233;Superfamily_domains:SSF50729																	HIGH	1	deletion	1	1		1											PASS	AAATATAACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGGAGACT	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			False	Unknown	-	7	5	27	95154267	95154267	AACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGG	-	1	0	1	0	1	0	0	0	0	12160	362	13	0		0	PLEKHF2	8	95154267	Frame_Shift_Del	DEL	AACAAACAACATATTATTCCCCTGGAAAATGTCACTATTGATTCCATCAAAGATGAGGG	TCGA-V4-A9EY-01A-11D-A39W-08		95154267	49984369	9	380											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	109	48	61	74			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5		COSM28758	True	Unknown	G	3	3	27	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		77794572	60600145	10	381											
PTGER2	5732	BI	GRCh38	chr14	52314600	52314600	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggactgcgagacgcgacagTggcttcccccaggcgaaagc	14	13	0	1	rs770164807		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.52T>C	p.Trp18Arg	p.W18R	ENST00000245457	1/2	37	25	12	26			PTGER2,missense_variant,p.W18R,ENST00000245457,NM_000956.3,c.52T>C,MODERATE,YES,tolerated(0.39),benign(0.096),1;PTGER2,intron_variant,,ENST00000557436,,c.-80+99T>C,MODIFIER,,,,1	C	ENST00000245457	Transcript	missense_variant	missense_variant	206/2383	52/1077	18/358	W/R	Tgg/Cgg	rs770164807	1		1	PTGER2	HGNC	HGNC:9594	protein_coding	YES	CCDS9708.1	ENSP00000245457	P43116		UPI000013CBA3	NM_000956.3	tolerated(0.39)	benign(0.096)	1/2		Prints_domain:PR00581																	MODERATE	1	SNV	1			1	8.743e-06	9.496e-06	0	0	0	0	0	0	0.0001121		PASS	GACAGTGGCTT	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	C	3	2	27	52314600	52314600	T	C	1	0	0	0	0	1	0	0	0	12898	1696	59	4		4	PTGER2	14	52314600	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		52314600	54729118	11	382											
RASL12	51285	BI	GRCh38	chr15	65055036	65055036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggtggagagcgtgtTgaaggtgcagctggccagcc	18	7	0	3	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.664A>C	p.Asn222His	p.N222H	ENST00000220062	5/5	38	22	16	21			RASL12,missense_variant,p.N222H,ENST00000220062,NM_016563.2,c.664A>C,MODERATE,YES,tolerated_low_confidence(0.23),benign(0.024),-1;RASL12,missense_variant,p.N203H,ENST00000421977,,c.607A>C,MODERATE,,tolerated(0.25),benign(0.024),-1;RASL12,missense_variant,p.N211H,ENST00000434605,,c.631A>C,MODERATE,,tolerated_low_confidence(0.22),benign(0.035),-1;SLC51B,downstream_gene_variant,,ENST00000334287,NM_178859.3,,MODIFIER,YES,,,1	G	ENST00000220062	Transcript	missense_variant	missense_variant	941/2640	664/801	222/266	N/H	Aac/Cac		1		-1	RASL12	HGNC	HGNC:30289	protein_coding	YES	CCDS10200.1	ENSP00000220062	Q9NYN1	A0A024R5Y3	UPI000006F3CC	NM_016563.2	tolerated_low_confidence(0.23)	benign(0.024)	5/5																			MODERATE	1	SNV	1			1											PASS	CGTGTTGAAGG	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	G	3	3	27	65055036	65055036	T	G	1	0	0	0	0	1	0	0	0	13244	1812	63	5		5	RASL12	15	65055036	Missense_Mutation	SNP	T	TCGA-V4-A9EY-01A-11D-A39W-08		65055036	36936153	12	383											
SHPK	23729	BI	GRCh38	chr17	3610699	3610699	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtcattcctggacagcGcactcccactgcccatcacc	7	19	2	0	rs762096736	byFrequency	TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.1298C>T	p.Ala433Val	p.A433V	ENST00000225519	7/7	126	60	66	107			SHPK,missense_variant,p.A433V,ENST00000225519,NM_013276.2,c.1298C>T,MODERATE,YES,tolerated(0.08),possibly_damaging(0.875),-1;TRPV1,upstream_gene_variant,,ENST00000572705,NM_080704.3,,MODIFIER,YES,,,-1;TRPV1,missense_variant,p.A433V,ENST00000572919,,c.1298C>T,MODERATE,,tolerated(0.08),possibly_damaging(0.875),-1	A	ENST00000225519	Transcript	missense_variant	missense_variant	1401/3838	1298/1437	433/478	A/V	gCg/gTg	rs762096736	1		-1	SHPK	HGNC	HGNC:1492	protein_coding	YES	CCDS11030.1	ENSP00000225519	Q9UHJ6		UPI0000070BB8	NM_013276.2	tolerated(0.08)	possibly_damaging(0.875)	7/7		Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1	1.647e-05	1.65e-05	0	0	0.0001156	0	1.501e-05	0	0		PASS	ACAGCGCACTC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	A	3	1	27	3610699	3610699	G	A	1	0	0	0	0	1	0	0	0	14553	1087	38	2		2	SHPK	17	3610699	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		3610699	79646742	13	384											
LILRB2	10288	BI	GRCh38	chr19	54279034	54279034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atagccgacatcagagacacActggagggtcaggctttccc	11	12	2	1	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.733T>A	p.Cys245Ser	p.C245S	ENST00000391749	6/14	135	127	8	163			LILRB2,missense_variant,p.C245S,ENST00000391748,NM_001278403.1,c.733T>A,MODERATE,,deleterious(0),probably_damaging(0.951),-1;LILRB2,missense_variant,p.C129S,ENST00000434421,NM_001278404.1,c.385T>A,MODERATE,,deleterious(0),probably_damaging(0.95),-1;LILRB2,missense_variant,p.C245S,ENST00000314446,NM_001080978.2,c.733T>A,MODERATE,,deleterious(0),probably_damaging(0.951),-1;LILRB2,missense_variant,p.C245S,ENST00000391749,NM_005874.3,c.733T>A,MODERATE,YES,deleterious(0),probably_damaging(0.919),-1;LILRB2,missense_variant,p.C245S,ENST00000391746,NM_001278405.1,c.733T>A,MODERATE,,deleterious(0),possibly_damaging(0.858),-1;LILRB2,missense_variant,p.C233S,ENST00000612280,,c.697T>A,MODERATE,,deleterious(0.01),benign(0.368),-1;MIR4752,upstream_gene_variant,,ENST00000579672,,,MODIFIER,YES,,,1;LILRB2,downstream_gene_variant,,ENST00000471216,,,MODIFIER,,,,-1;LILRB2,non_coding_transcript_exon_variant,,ENST00000493242,,n.918T>A,MODIFIER,,,,-1;LILRB2,upstream_gene_variant,,ENST00000455108,,,MODIFIER,,,,-1	T	ENST00000391749	Transcript	missense_variant	missense_variant	1005/2286	733/1797	245/598	C/S	Tgt/Agt		1		-1	LILRB2	HGNC	HGNC:6606	protein_coding	YES	CCDS12886.1	ENSP00000375629	Q8N423		UPI00034F23A2	NM_005874.3	deleterious(0)	probably_damaging(0.919)	6/14		PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	GACACACTGGA	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			False	Unknown	T	3	4	27	54279034	54279034	A	T	1	0	0	0	0	1	0	0	0	8699	159	6	5		5	LILRB2	19	54279034	Missense_Mutation	SNP	A	TCGA-V4-A9EY-01A-11D-A39W-08		54279034	4338582	14	385											
ELMO2	63916	BI	GRCh38	chr20	46386230	46386230	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	caggatggccagggacctctGaaggattgacacgtccacca	12	12	1	2	novel		TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.571C>G	p.Gln191Glu	p.Q191E	ENST00000290246	9/22	82	59	23	83			ELMO2,missense_variant,p.Q103E,ENST00000372176,,c.307C>G,MODERATE,,tolerated(0.12),possibly_damaging(0.449),-1;ELMO2,missense_variant,p.Q191E,ENST00000290246,NM_133171.3,c.571C>G,MODERATE,YES,tolerated(0.12),possibly_damaging(0.449),-1;ELMO2,missense_variant,p.Q191E,ENST00000396391,NM_182764.1,c.571C>G,MODERATE,,tolerated(0.12),possibly_damaging(0.449),-1;ELMO2,missense_variant,p.Q189E,ENST00000352077,,c.565C>G,MODERATE,,tolerated(0.12),probably_damaging(0.981),-1;ELMO2,missense_variant,p.Q191E,ENST00000450812,,c.571C>G,MODERATE,,tolerated(0.05),possibly_damaging(0.449),-1;ELMO2,upstream_gene_variant,,ENST00000425546,,,MODIFIER,,,,-1;RP11-394O2.3,intron_variant,,ENST00000612368,,n.366-1470G>C,MODIFIER,YES,,,1;ELMO2,non_coding_transcript_exon_variant,,ENST00000488853,,n.648C>G,MODIFIER,,,,-1;ELMO2,non_coding_transcript_exon_variant,,ENST00000469801,,n.689C>G,MODIFIER,,,,-1;ELMO2,non_coding_transcript_exon_variant,,ENST00000497412,,n.671C>G,MODIFIER,,,,-1;ELMO2,non_coding_transcript_exon_variant,,ENST00000460474,,n.616C>G,MODIFIER,,,,-1;ELMO2,upstream_gene_variant,,ENST00000462491,,,MODIFIER,,,,-1;ELMO2,downstream_gene_variant,,ENST00000487583,,,MODIFIER,,,,-1;ELMO2,upstream_gene_variant,,ENST00000480042,,,MODIFIER,,,,-1;ELMO2,downstream_gene_variant,,ENST00000462593,,,MODIFIER,,,,-1	C	ENST00000290246	Transcript	missense_variant	missense_variant	766/3669	571/2163	191/720	Q/E	Cag/Gag		1		-1	ELMO2	HGNC	HGNC:17233	protein_coding	YES	CCDS13398.1	ENSP00000290246	Q96JJ3		UPI000013F6C4	NM_133171.3	tolerated(0.12)	possibly_damaging(0.449)	9/22		Pfam_domain:PF11841;Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CCTCTGAAGGA	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5			True	Unknown	C	3	2	27	46386230	46386230	G	C	1	0	0	0	0	1	0	0	0	4900	1299	45	5		5	ELMO2	20	46386230	Missense_Mutation	SNP	G	TCGA-V4-A9EY-01A-11D-A39W-08		46386230	18057937	15	386											
EIF1AX	1964	BI	GRCh38	chrX	20138617	20138617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	6	10	1	1			TCGA-V4-A9EY-01A-11D-A39W-08	TCGA-V4-A9EY-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7eba7e19-10a9-4b6b-bd1c-70968842e77a	3dbe8380-1f81-4953-8b71-a7f1e9b374a0	c.22G>A	p.Gly8Arg	p.G8R	ENST00000379607	2/7	115	67	48	124			EIF1AX,missense_variant,p.G8R,ENST00000379607,NM_001412.3,c.22G>A,MODERATE,YES,deleterious(0.03),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2776G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant	226/4427	22/435	8/144	G/R	Gga/Aga		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0.03)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	ACCTCCTTTAC	4f2fe048-4061-436c-b8ee-5753e790d62a	a01c376e-178a-4347-b435-932a492e67b0	f364437b-7f26-4b3f-845d-e0a2da8ec554	15d19ccc-52b8-41f6-b1c1-2cc55691aed5		COSM3372215	True	Unknown	T	3	4	27	20138617	20138617	C	T	1	0	0	0	0	1	0	0	0	4828	695	24	3		3	EIF1AX	23	20138617	Missense_Mutation	SNP	C	TCGA-V4-A9EY-01A-11D-A39W-08		20138617	135902278	16	387											
ARID1A	8289	BI	GRCh38	chr1	26731543	26731543	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggctgcgtatcctcAgccccagtctcagcagtccc	9	18	2	0	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1742A>T	p.Gln581Leu	p.Q581L	ENST00000324856	3/20	105	99	6	194			ARID1A,missense_variant,p.Q581L,ENST00000324856,NM_006015.4,c.1742A>T,MODERATE,YES,,benign(0.001),1;ARID1A,missense_variant,p.Q581L,ENST00000457599,NM_139135.2,c.1742A>T,MODERATE,,,unknown(0),1;ARID1A,missense_variant,p.Q198L,ENST00000374152,,c.593A>T,MODERATE,,,benign(0.001),1;ARID1A,missense_variant,p.Q198L,ENST00000615191,,c.593A>T,MODERATE,,tolerated_low_confidence(0.43),unknown(0),1;ARID1A,downstream_gene_variant,,ENST00000524572,,,MODIFIER,,,,1	T	ENST00000324856	Transcript	missense_variant	missense_variant	2113/8577	1742/6858	581/2285	Q/L	cAg/cTg		1		1	ARID1A	HGNC	HGNC:11110	protein_coding	YES	CCDS285.1	ENSP00000320485	O14497		UPI0000167B91	NM_006015.4		benign(0.001)	3/20		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50322																	MODERATE	1	SNV	1			1											PASS	TCCTCAGCCCC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			False	Unknown	T	3	4	28	26731543	26731543	A	T	1	0	0	0	0	1	0	0	0	1049	188	7	5		5	ARID1A	1	26731543	Missense_Mutation	SNP	A	TCGA-V4-A9EZ-01A-11D-A39W-08		26731543	222224879	1	388											
SLC1A7	6512	BI	GRCh38	chr1	53092753	53092753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtccatctccaggatcttacCcgcaatgaggaacacaatgc	8	13	2	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.832G>T	p.Gly278Cys	p.G278C	ENST00000371494	7/11	33	30	3	65			SLC1A7,missense_variant,p.G278C,ENST00000620347,NM_001287595.1,c.832G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SLC1A7,missense_variant,p.G278C,ENST00000371494,NM_006671.5,c.832G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;SLC1A7,missense_variant,p.G206C,ENST00000611397,NM_001287597.1,c.616G>T,MODERATE,,deleterious(0),probably_damaging(1),-1;SLC1A7,3_prime_UTR_variant,,ENST00000620288,,c.*1486G>T,MODIFIER,,,,-1;SLC1A7,upstream_gene_variant,,ENST00000488036,,,MODIFIER,,,,-1	A	ENST00000371494	Transcript	missense_variant	missense_variant	960/2637	832/1683	278/560	G/C	Ggt/Tgt		1		-1	SLC1A7	HGNC	HGNC:10945	protein_coding		CCDS574.1	ENSP00000360549	O00341		UPI000013DED8	NM_006671.5	deleterious(0)	probably_damaging(1)	7/11		Transmembrane_helices:Tmhmm;Pfam_domain:PF00375;Prints_domain:PR00173;Superfamily_domains:SSF118215																	MODERATE		SNV	1			1											PASS	CTTACCCGCAA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			False	Unknown	A	3	1	28	53092753	53092753	C	A	1	0	0	0	0	1	0	0	0	14703	623	22	5		5	SLC1A7	1	53092753	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	26361210	53092753	195863669	2	389											
PYCR2	29920	BI	GRCh38	chr1	225921259	225921259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagcagagagcggaagCccccactctctagaaagtgc	12	11	1	4	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.746G>A	p.Gly249Asp	p.G249D	ENST00000343818	6/7	51	24	27	46			PYCR2,missense_variant,p.G249D,ENST00000343818,NM_013328.3,c.746G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;RP4-559A3.7,missense_variant,p.G175D,ENST00000432920,,c.524G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.997),-1;PYCR2,missense_variant,p.G175D,ENST00000612039,NM_001271681.1,c.524G>A,MODERATE,,deleterious(0.01),probably_damaging(1),-1;PYCR2,missense_variant,p.G248D,ENST00000612651,,c.743G>A,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;PYCR2,downstream_gene_variant,,ENST00000489681,,,MODIFIER,,,,-1;PYCR2,downstream_gene_variant,,ENST00000472798,,,MODIFIER,,,,-1;MIR6741,downstream_gene_variant,,ENST00000618782,,,MODIFIER,YES,,,-1;PYCR2,non_coding_transcript_exon_variant,,ENST00000478402,,n.2355G>A,MODIFIER,,,,-1;PYCR2,non_coding_transcript_exon_variant,,ENST00000446534,,n.1304G>A,MODIFIER,,,,-1;PYCR2,non_coding_transcript_exon_variant,,ENST00000466127,,n.463G>A,MODIFIER,,,,-1;PYCR2,downstream_gene_variant,,ENST00000467298,,,MODIFIER,,,,-1	T	ENST00000343818	Transcript	missense_variant	missense_variant	895/1689	746/963	249/320	G/D	gGc/gAc		1		-1	PYCR2	HGNC	HGNC:30262	protein_coding	YES	CCDS31043.1	ENSP00000342502	Q96C36		UPI000006F2BB	NM_013328.3	deleterious(0)	probably_damaging(0.999)	6/7		TIGRFAM_domain:TIGR00112;Superfamily_domains:SSF48179;PIRSF_domain:PIRSF000193																	MODERATE	1	SNV	1			1											PASS	GGAAGCCCCCA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	3	4	28	225921259	225921259	C	T	1	0	0	0	0	1	0	0	0	13011	739	26	3		3	PYCR2	1	225921259	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	172828506	225921259	23035163	3	390											
HAT1	8520	BI	GRCh38	chr2	171976238	171976238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatttgccctgtttttcccGggaaaaattaatgcaaggat	9	7	0	1	rs760798004	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.905G>A	p.Arg302Gln	p.R302Q	ENST00000264108	9/11	68	63	5	52			HAT1,missense_variant,p.R302Q,ENST00000264108,NM_003642.3,c.905G>A,MODERATE,YES,tolerated(0.33),benign(0.001),1;SLC25A12,intron_variant,,ENST00000472748,,n.177+23441C>T,MODIFIER,,,,-1;SLC25A12,intron_variant,,ENST00000484227,,n.210+15109C>T,MODIFIER,,,,-1;SLC25A12,intron_variant,,ENST00000464063,,n.181+23441C>T,MODIFIER,,,,-1;HAT1,3_prime_UTR_variant,,ENST00000457761,,c.*406G>A,MODIFIER,,,,1;HAT1,3_prime_UTR_variant,,ENST00000412731,,c.*688G>A,MODIFIER,,,,1;HAT1,non_coding_transcript_exon_variant,,ENST00000494601,,n.3219G>A,MODIFIER,,,,1;HAT1,non_coding_transcript_exon_variant,,ENST00000392584,,n.1930G>A,MODIFIER,,,,1	A	ENST00000264108	Transcript	missense_variant	missense_variant	941/1626	905/1260	302/419	R/Q	cGg/cAg	rs760798004	1		1	HAT1	HGNC	HGNC:4821	protein_coding	YES	CCDS2245.1	ENSP00000264108	O14929		UPI000013FE99	NM_003642.3	tolerated(0.33)	benign(0.001)	9/11		Superfamily_domains:SSF55729;PIRSF_domain:PIRSF038084																	MODERATE	1	SNV	1			1	1.647e-05	8.278e-06	0	0	0	0	1.508e-05	0	0		panel_of_normals	TTCCCGGGAAA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a	gdc_pon	COSM1401273	True	Unknown	A	3	1	28	171976238	171976238	G	A	1	0	0	0	0	1	0	0	0	6850	1116	39	2		2	HAT1	2	171976238	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		171976238	70217291	4	391											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	75	44	31	66			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a		COSM255276	True	Unknown	T	3	4	28	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	25426521	197402759	44790770	5	392											
DCAF1	9730	BI	GRCh38	chr3	51429369	51429369	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcaaagtatttgcgcaaGgccatgcaggtatgtttccc	10	11	1	0	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1569C>G	p.=	p.A523A	ENST00000423656	11/25	69	33	36	70			VPRBP,synonymous_variant,p.A522A,ENST00000504652,NM_001171904.1,c.1566C>G,LOW,,,,-1;VPRBP,synonymous_variant,p.A523A,ENST00000423656,NM_014703.2,c.1569C>G,LOW,YES,,,-1;VPRBP,intron_variant,,ENST00000335891,,c.673-8419C>G,MODIFIER,,,,-1	C	ENST00000423656	Transcript	synonymous_variant	synonymous_variant	1699/5946	1569/4524	523/1507	A	gcC/gcG		1		-1	VPRBP	HGNC	HGNC:30911	protein_coding	YES	CCDS74943.1	ENSP00000393183	Q9Y4B6		UPI00000716AC	NM_014703.2			11/25		Superfamily_domains:SSF48371																	LOW	1	SNV	5			1											PASS	CGCAAGGCCAT	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			False	Unknown	C	2	2	28	51429369	51429369	G	C	1	0	0	0	0	0	0	0	1	4061	987	35	5		5	DCAF1	3	51429369	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		51429369	146866190	6	393											
TMEM39A	55254	BI	GRCh38	chr3	119438101	119438101	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggaacataaacaccaAacctgtaaaacaaagtgtga	7	7	0	2	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.578T>A	p.Phe193Tyr	p.F193Y	ENST00000319172	6/9	34	19	15	33			TMEM39A,missense_variant,p.F193Y,ENST00000319172,NM_018266.2,c.578T>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.97),-1;TMEM39A,missense_variant,p.F39Y,ENST00000491685,,c.116T>A,MODERATE,,deleterious(0),probably_damaging(0.987),-1;TMEM39A,splice_region_variant,,ENST00000486159,,n.659T>A,LOW,,,,-1;TMEM39A,splice_region_variant,,ENST00000438581,,c.*246T>A,LOW,,,,-1;TMEM39A,upstream_gene_variant,,ENST00000473684,,,MODIFIER,,,,-1;TMEM39A,upstream_gene_variant,,ENST00000468545,,,MODIFIER,,,,-1	T	ENST00000319172	Transcript	missense_variant	missense_variant;splice_region_variant	999/4369	578/1467	193/488	F/Y	tTt/tAt		1		-1	TMEM39A	HGNC	HGNC:25600	protein_coding	YES	CCDS2987.1	ENSP00000326063	Q9NV64		UPI00000715E5	NM_018266.2	deleterious(0.01)	probably_damaging(0.97)	6/9		Pfam_domain:PF10271;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	CACCAAACCTG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	3	4	28	119438101	119438101	A	T	1	0	0	0	0	1	0	0	0	16638	28	1	5		5	TMEM39A	3	119438101	Missense_Mutation	SNP	A	TCGA-V4-A9EZ-01A-11D-A39W-08	68008732	119438101	78857458	7	394											
PPID	5481	BI	GRCh38	chr4	158717162	158717162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaccgtttgtgttgcgGcctgcatttgccatgctcag	12	10	1	1	rs747950446	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.372C>T	p.=	p.G124G	ENST00000307720	4/10	88	58	30	58			PPID,synonymous_variant,p.G124G,ENST00000307720,NM_005038.2,c.372C>T,LOW,YES,,,-1;PPID,upstream_gene_variant,,ENST00000512699,,,MODIFIER,,,,-1	A	ENST00000307720	Transcript	synonymous_variant	synonymous_variant	480/1823	372/1113	124/370	G	ggC/ggT	rs747950446	1		-1	PPID	HGNC	HGNC:9257	protein_coding	YES	CCDS3801.1	ENSP00000303754	Q08752	E5KN55	UPI0000128C6B	NM_005038.2			4/10		Pfam_domain:PF00160;Prints_domain:PR00153;PROSITE_profiles:PS50072;Superfamily_domains:SSF50891																	LOW	1	SNV	1			1	8.236e-06	8.242e-06	0	0	0.0001156	0	0	0	0		PASS	TTGCGGCCTGC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	2	1	28	158717162	158717162	G	A	1	0	0	0	0	0	0	0	1	12432	1190	42	3		3	PPID	4	158717162	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		158717162	31497393	8	395											
TNS3	64759	BI	GRCh38	chr7	47400814	47400814	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cattgtccagatcctccttcCcaaacaccagcccgtagccc	5	19	0	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.824G>C	p.Gly275Ala	p.G275A	ENST00000311160	14/31	54	41	13	49			TNS3,missense_variant,p.G275A,ENST00000311160,NM_022748.11,c.824G>C,MODERATE,YES,tolerated(0.08),benign(0.068),-1;TNS3,missense_variant,p.G378A,ENST00000457718,,c.1133G>C,MODERATE,,,,-1;TNS3,missense_variant,p.G364A,ENST00000450444,,c.1091G>C,MODERATE,,tolerated(0.08),benign(0.026),-1;TNS3,downstream_gene_variant,,ENST00000442536,,,MODIFIER,,,,-1;TNS3,downstream_gene_variant,,ENST00000458317,,,MODIFIER,,,,-1;TNS3,non_coding_transcript_exon_variant,,ENST00000469470,,n.259G>C,MODIFIER,,,,-1;TNS3,upstream_gene_variant,,ENST00000485555,,,MODIFIER,,,,-1	G	ENST00000311160	Transcript	missense_variant	missense_variant	1182/7618	824/4338	275/1445	G/A	gGg/gCg		1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	tolerated(0.08)	benign(0.068)	14/31		Pfam_domain:PF10409;PROSITE_profiles:PS51182;Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1											PASS	CCTTCCCAAAC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	G	3	3	28	47400814	47400814	C	G	1	0	0	0	0	1	0	0	0	16818	623	22	5		5	TNS3	7	47400814	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		47400814	111945159	9	396											
ZNF479	90827	BI	GRCh38	chr7	57120662	57120662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtaaggtttgcagaccaGctaaaggctttgccacattc	9	10	0	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.753C>T	p.=	p.S251S	ENST00000319636	4/4	34	17	17	55			ZNF479,synonymous_variant,p.S251S,ENST00000331162,NM_033273.1,c.753C>T,LOW,YES,,,-1;ZNF479,synonymous_variant,p.S251S,ENST00000319636,,c.753C>T,LOW,,,,-1;ZNF479,intron_variant,,ENST00000620639,,c.696+57C>T,MODIFIER,,,,-1	A	ENST00000319636	Transcript	synonymous_variant	synonymous_variant	770/1811	753/1575	251/524	S	agC/agT		1		-1	ZNF479	HGNC	HGNC:23258	protein_coding		CCDS43590.1	ENSP00000324518	Q96JC4		UPI000006E615				4/4		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	LOW		SNV	2			1											PASS	GACCAGCTAAA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	2	1	28	57120662	57120662	G	A	1	0	0	0	0	0	0	0	1	18505	962	34	3		3	ZNF479	7	57120662	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	9719848	57120662	102225311	10	397											
COL14A1	7373	BI	GRCh38	chr8	120203780	120203780	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcactcatgtgtacaatGttgccgaattcgatctgatg	9	9	2	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.949G>A	p.Val317Ile	p.V317I	ENST00000297848	9/48	64	50	14	26			COL14A1,missense_variant,p.V317I,ENST00000297848,NM_021110.2,c.949G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;COL14A1,missense_variant,p.V317I,ENST00000309791,,c.949G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;COL14A1,missense_variant,p.V317I,ENST00000537875,,c.949G>A,MODERATE,,deleterious(0),probably_damaging(1),1;COL14A1,missense_variant,p.V130I,ENST00000434620,,c.388G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;COL14A1,missense_variant,p.V74I,ENST00000523142,,c.218G>A,MODERATE,,,,1;COL14A1,non_coding_transcript_exon_variant,,ENST00000432943,,n.1183G>A,MODIFIER,,,,1;COL14A1,missense_variant,p.V317I,ENST00000498051,,c.949G>A,MODERATE,,deleterious(0),probably_damaging(1),1	A	ENST00000297848	Transcript	missense_variant	missense_variant	1219/6466	949/5391	317/1796	V/I	Gtt/Att		1		1	COL14A1	HGNC	HGNC:2191	protein_coding	YES	CCDS34938.1	ENSP00000297848	Q05707		UPI000046D377	NM_021110.2	deleterious(0)	probably_damaging(0.997)	9/48		Pfam_domain:PF00092;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300																	MODERATE	1	SNV	5			1											PASS	ACAATGTTGCC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	3	1	28	120203780	120203780	G	A	1	0	0	0	0	1	0	0	0	3459	1377	48	3		3	COL14A1	8	120203780	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		120203780	24934856	11	398											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	91	37	54	83			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a		COSM28758	True	Unknown	G	3	3	28	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08		77794572	60600145	12	399											
AKAP2	445815	BI	GRCh38	chr9	110137341	110137341	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcaactcagacaagccactGactaatccgagaccaccttc	6	15	2	3	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1797G>T	p.=	p.L599L	ENST00000374530	8/11	78	52	26	66			PALM2-AKAP2,synonymous_variant,p.L599L,ENST00000374530,NM_007203.4,c.1797G>T,LOW,YES,,,1;AKAP2,synonymous_variant,p.L457L,ENST00000374525,NM_001004065.4,c.1371G>T,LOW,,,,1;PALM2-AKAP2,synonymous_variant,p.L599L,ENST00000302798,NM_147150.2,c.1797G>T,LOW,,,,1;AKAP2,synonymous_variant,p.L457L,ENST00000434623,NM_001198656.1,c.1371G>T,LOW,YES,,,1;AKAP2,synonymous_variant,p.L368L,ENST00000259318,NM_001136562.2,c.1104G>T,LOW,,,,1;AKAP2,synonymous_variant,p.L417L,ENST00000480388,,c.1251G>T,LOW,,,,1;PALM2-AKAP2,downstream_gene_variant,,ENST00000413420,,,MODIFIER,,,,1;AKAP2,upstream_gene_variant,,ENST00000482335,,,MODIFIER,,,,1;AKAP2,downstream_gene_variant,,ENST00000471798,,,MODIFIER,,,,1;AKAP2,intron_variant,,ENST00000495980,,c.157-18978G>T,MODIFIER,,,,1	T	ENST00000374530	Transcript	synonymous_variant	synonymous_variant	1977/7507	1797/3312	599/1103	L	ctG/ctT		1		1	PALM2-AKAP2	HGNC	HGNC:33529	protein_coding	YES	CCDS35100.1	ENSP00000363654			UPI0000125755	NM_007203.4			8/11																			LOW		SNV	2			1											PASS	CCACTGACTAA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	2	4	28	110137341	110137341	G	T	1	0	0	0	0	0	0	0	1	535	1277	45	5		5	AKAP2	9	110137341	Silent	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08	32342769	110137341	28257376	13	400											
MYOF	26509	BI	GRCh38	chr10	93431453	93431453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagggagatcagcttgtaCggcagggatctgctctggtc	15	9	3	1	rs756928666		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.300G>A	p.=	p.P100P	ENST00000359263	4/54	69	36	33	50			MYOF,synonymous_variant,p.P100P,ENST00000359263,NM_013451.3,c.300G>A,LOW,YES,,,-1;MYOF,synonymous_variant,p.P100P,ENST00000358334,NM_133337.2,c.300G>A,LOW,,,,-1;MYOF,synonymous_variant,p.P100P,ENST00000371489,,c.300G>A,LOW,,,,-1;MYOF,synonymous_variant,p.P100P,ENST00000371488,,c.300G>A,LOW,,,,-1;MYOF,non_coding_transcript_exon_variant,,ENST00000488645,,n.494G>A,MODIFIER,,,,-1	T	ENST00000359263	Transcript	synonymous_variant	synonymous_variant	300/6719	300/6186	100/2061	P	ccG/ccA	rs756928666	1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3			4/54		SMART_domains:SM00239;Superfamily_domains:SSF49562																	LOW	1	SNV	1			1	8.271e-06	8.285e-06	0	0	0.000116	0	0	0	0		PASS	TTGTACGGCAG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a		COSM428152;COSM4816188;COSM4816189;COSM4816190	True	Unknown	T	2	4	28	93431453	93431453	C	T	1	0	0	0	0	0	0	0	1	10090	523	19	1		1	MYOF	10	93431453	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		93431453	40365969	14	401											
CAT	847	BI	GRCh38	chr11	34468309	34468309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggcattctatgtgaacGtgctgaatgaggaacagagg	15	6	1	4	rs746357360	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1348G>A	p.Val450Met	p.V450M	ENST00000241052	11/13	180	108	72	137			CAT,missense_variant,p.V450M,ENST00000241052,NM_001752.3,c.1348G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.904),1;CAT,non_coding_transcript_exon_variant,,ENST00000525707,,n.340G>A,MODIFIER,,,,1;CAT,upstream_gene_variant,,ENST00000534710,,,MODIFIER,,,,1;CAT,downstream_gene_variant,,ENST00000530343,,,MODIFIER,,,,1	A	ENST00000241052	Transcript	missense_variant	missense_variant	1437/2302	1348/1584	450/527	V/M	Gtg/Atg	rs746357360	1		1	CAT	HGNC	HGNC:1516	protein_coding	YES	CCDS7891.1	ENSP00000241052	P04040		UPI000002F090	NM_001752.3	deleterious(0.02)	possibly_damaging(0.904)	11/13		Pfam_domain:PF06628;Superfamily_domains:SSF56634																	MODERATE	1	SNV	1			1	1.647e-05	1.648e-05	0	0	0	0	2.997e-05	0	0		PASS	TGAACGTGCTG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	3	1	28	34468309	34468309	G	A	1	0	0	0	0	1	0	0	0	2385	1145	40	1		1	CAT	11	34468309	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		34468309	100618313	15	402											
OR8A1	390275	BI	GRCh38	chr11	124570401	124570401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaaaacatcatctcctaCgcagggtgcatgtcacagct	9	11	3	1	rs61748716	by1000G;byCluster;byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.333C>T	p.=	p.Y111Y	ENST00000284287	1/1	82	47	35	61			OR8A1,synonymous_variant,p.Y111Y,ENST00000284287,NM_001005194.1,c.333C>T,LOW,YES,,,1	T	ENST00000284287	Transcript	synonymous_variant	synonymous_variant	405/1146	333/981	111/326	Y	taC/taT	rs61748716	1		1	OR8A1	HGNC	HGNC:8469	protein_coding	YES	CCDS31712.1	ENSP00000284287	Q8NGG7		UPI00003B286D	NM_001005194.1			1/1		Pfam_domain:PF00001;Prints_domain:PR00245;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321	6e-04	8e-04	0		0	0	0.002	7e-04	0								LOW	1	SNV				1	0.0002718	0.0002719	0.0006727	0.0001733	0	0	1.499e-05	0	0.001393		panel_of_normals	TCCTACGCAGG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a	common_in_exac;gdc_pon	COSM246290	True	Unknown	T	2	4	28	124570401	124570401	C	T	1	0	0	0	0	0	0	0	1	11295	547	19	1		1	OR8A1	11	124570401	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	90102092	124570401	10516221	16	403											
NECAP1	25977	BI	GRCh38	chr12	8095681	8095681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcaatgacttgtggGgagacttcagcactgcctcc	11	11	1	2	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.757G>A	p.Gly253Arg	p.G253R	ENST00000339754	7/8	133	86	47	97			NECAP1,missense_variant,p.G253R,ENST00000339754,NM_015509.3,c.757G>A,MODERATE,YES,deleterious(0),probably_damaging(0.984),1;NECAP1,missense_variant,p.G111R,ENST00000540083,,c.331G>A,MODERATE,,,,1;NECAP1,3_prime_UTR_variant,,ENST00000450991,,c.*366G>A,MODIFIER,,,,1;NECAP1,3_prime_UTR_variant,,ENST00000541948,,c.*233G>A,MODIFIER,,,,1;NECAP1,non_coding_transcript_exon_variant,,ENST00000537796,,n.1377G>A,MODIFIER,,,,1;NECAP1,downstream_gene_variant,,ENST00000545807,,,MODIFIER,,,,1;NECAP1,downstream_gene_variant,,ENST00000542095,,,MODIFIER,,,,1	A	ENST00000339754	Transcript	missense_variant	missense_variant	835/2587	757/828	253/275	G/R	Gga/Aga		1		1	NECAP1	HGNC	HGNC:24539	protein_coding	YES	CCDS8589.1	ENSP00000341737	Q8NC96		UPI000006EB8D	NM_015509.3	deleterious(0)	probably_damaging(0.984)	7/8																			MODERATE	1	SNV	1			1											PASS	TGTGGGGAGAC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	3	1	28	8095681	8095681	G	A	1	0	0	0	0	1	0	0	0	10331	1233	43	3		3	NECAP1	12	8095681	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		8095681	125179628	17	404											
ALOX15	246	BI	GRCh38	chr17	4633480	4633480	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatttccagggtgtaTcgcaggtggggaattataag	13	5	0	0	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1182A>T	p.=	p.R394R	ENST00000293761	9/14	126	94	32	92			ALOX15,synonymous_variant,p.R394R,ENST00000570836,,c.1182A>T,LOW,YES,,,-1;ALOX15,synonymous_variant,p.R394R,ENST00000293761,NM_001140.3,c.1182A>T,LOW,,,,-1;ALOX15,synonymous_variant,p.R355R,ENST00000574640,,c.1065A>T,LOW,,,,-1;ALOX15,downstream_gene_variant,,ENST00000576572,,,MODIFIER,,,,-1	A	ENST00000293761	Transcript	synonymous_variant	synonymous_variant	1196/2677	1182/1989	394/662	R	cgA/cgT		1		-1	ALOX15	HGNC	HGNC:433	protein_coding		CCDS11049.1	ENSP00000293761	P16050		UPI000013E118	NM_001140.3			9/14		Pfam_domain:PF00305;Prints_domain:PR00087;Superfamily_domains:SSF48484																	LOW		SNV	1			1											PASS	GTGTATCGCAG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	2	1	28	4633480	4633480	T	A	1	0	0	0	0	0	0	0	1	638	1422	50	5		5	ALOX15	17	4633480	Silent	SNP	T	TCGA-V4-A9EZ-01A-11D-A39W-08		4633480	78623961	18	405											
SLFN11	91607	BI	GRCh38	chr17	35352621	35352621	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccacttcttttgcggtgCtgacaagcacagcaacatcc	8	14	1	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.2441G>A	p.Ser814Asn	p.S814N	ENST00000308377	5/5	60	37	23	60			SLFN11,missense_variant,p.S814N,ENST00000394566,NM_001104590.1&NM_001104587.1&NM_001104588.1,c.2441G>A,MODERATE,YES,tolerated(0.11),benign(0.079),-1;SLFN11,missense_variant,p.S814N,ENST00000308377,NM_001104589.1&NM_152270.3,c.2441G>A,MODERATE,,tolerated(0.11),benign(0.079),-1;SLFN11,3_prime_UTR_variant,,ENST00000592108,,c.*250G>A,MODIFIER,,,,-1	T	ENST00000308377	Transcript	missense_variant	missense_variant	2594/4910	2441/2706	814/901	S/N	aGc/aAc		1		-1	SLFN11	HGNC	HGNC:26633	protein_coding		CCDS11294.1	ENSP00000312402	Q7Z7L1		UPI0000140B0E	NM_001104589.1;NM_152270.3	tolerated(0.11)	benign(0.079)	5/5		Superfamily_domains:SSF52540																	MODERATE		SNV	1			1											PASS	CGGTGCTGACA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	3	4	28	35352621	35352621	C	T	1	0	0	0	0	1	0	0	0	15022	797	28	3		3	SLFN11	17	35352621	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	30719141	35352621	47904820	19	406											
DSC1	1823	BI	GRCh38	chr18	31132611	31132611	+	Frame_Shift_Del	DEL	T	T	-													cagtatttgatacaattaaaTtttgctgggctatgtcttct					novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.2195delA	p.Asn732IlefsTer2	p.N732Ifs*2	ENST00000257198	14/16	79	50	29	81			DSC1,frameshift_variant,p.N732Ifs*2,ENST00000257197,NM_004948.3,c.2195delA,HIGH,,,,-1;DSC1,frameshift_variant,p.N732Ifs*2,ENST00000257198,NM_024421.2,c.2195delA,HIGH,YES,,,-1;DSCAS,intron_variant,,ENST00000581836,,n.209-18185delT,MODIFIER,YES,,,1;RP11-408H20.3,downstream_gene_variant,,ENST00000582307,,,MODIFIER,YES,,,1	-	ENST00000257198	Transcript	frameshift_variant	frameshift_variant	2457/4225	2195/2685	732/894	N/X	aAt/at		1		-1	DSC1	HGNC	HGNC:3035	protein_coding	YES	CCDS11894.1	ENSP00000257198	Q08554		UPI000006DF10	NM_024421.2			14/16		Prints_domain:PR01820																	HIGH	1	deletion	2			1											PASS	ATTAAATTTTGC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	-	7	5	28	31132611	31132611	T	-	1	0	1	0	1	0	0	0	0	4586	1493	52	0		0	DSC1	18	31132611	Frame_Shift_Del	DEL	T	TCGA-V4-A9EZ-01A-11D-A39W-08		31132611	49240674	20	407											
KANK3	256949	BI	GRCh38	chr19	8324675	8324675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggctgggtgagcagcagCcgcacggtgtccaggcgccc	16	15	0	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.2238G>A	p.=	p.R746R	ENST00000593649	9/11	80	52	28	71			KANK3,synonymous_variant,p.R746R,ENST00000330915,NM_198471.2,c.2238G>A,LOW,YES,,,-1;KANK3,synonymous_variant,p.R746R,ENST00000593649,,c.2238G>A,LOW,,,,-1;ELAVL1,intron_variant,,ENST00000351593,,c.-87-62671G>A,MODIFIER,,,,-1;RPS28,downstream_gene_variant,,ENST00000600659,NM_001031.4,,MODIFIER,YES,,,1;NDUFA7,upstream_gene_variant,,ENST00000301457,NM_005001.3,,MODIFIER,YES,,,-1;RPS28,downstream_gene_variant,,ENST00000449223,,,MODIFIER,,,,1;RPS28,downstream_gene_variant,,ENST00000602140,,,MODIFIER,,,,1;NDUFA7,upstream_gene_variant,,ENST00000598884,,,MODIFIER,YES,,,-1;NDUFA7,upstream_gene_variant,,ENST00000593729,,,MODIFIER,,,,-1;NDUFA7,upstream_gene_variant,,ENST00000595856,,,MODIFIER,,,,-1;NDUFA7,upstream_gene_variant,,ENST00000601101,,,MODIFIER,,,,-1;RPS28,downstream_gene_variant,,ENST00000417088,,,MODIFIER,,,,1	T	ENST00000593649	Transcript	synonymous_variant	synonymous_variant	2304/2672	2238/2523	746/840	R	cgG/cgA		1		-1	KANK3	HGNC	HGNC:24796	protein_coding			ENSP00000470728	Q6NY19		UPI000024321F				9/11		Pfam_domain:PF00023;PROSITE_profiles:PS50297;SMART_domains:SM00248;Superfamily_domains:SSF48403																	LOW		SNV	1			1											PASS	AGCAGCCGCAC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	2	4	28	8324675	8324675	C	T	1	0	0	0	0	0	0	0	1	7887	726	26	3		3	KANK3	19	8324675	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		8324675	50292941	21	408											
EPS8L1	54869	BI	GRCh38	chr19	55086392	55086392	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctccttcctttcagAacagcactcctcctccacca	2	20	3	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1651A>C	p.Asn551His	p.N551H	ENST00000201647	17/20	7	5	2	10			EPS8L1,missense_variant,p.N551H,ENST00000201647,NM_133180.2,c.1651A>C,MODERATE,YES,tolerated(0.1),benign(0.002),1;EPS8L1,missense_variant,p.N487H,ENST00000540810,,c.1459A>C,MODERATE,,tolerated(0.12),benign(0.002),1;EPS8L1,missense_variant,p.N424H,ENST00000245618,NM_017729.3,c.1270A>C,MODERATE,,tolerated(0.12),benign(0.004),1;EPS8L1,missense_variant,p.N237H,ENST00000588359,,c.709A>C,MODERATE,,tolerated(0.1),benign(0.005),1;EPS8L1,intron_variant,,ENST00000586329,,c.1560+419A>C,MODIFIER,,,,1;PPP1R12C,downstream_gene_variant,,ENST00000263433,NM_017607.3&NM_001271618.1,,MODIFIER,YES,,,-1;PPP1R12C,downstream_gene_variant,,ENST00000435544,,,MODIFIER,,,,-1;PPP1R12C,downstream_gene_variant,,ENST00000591938,,,MODIFIER,,,,-1;EPS8L1,splice_region_variant,,ENST00000585347,,n.444A>C,LOW,,,,1;EPS8L1,downstream_gene_variant,,ENST00000592824,,,MODIFIER,,,,1;EPS8L1,upstream_gene_variant,,ENST00000587901,,,MODIFIER,,,,1;EPS8L1,splice_region_variant,,ENST00000592102,,n.1147A>C,LOW,,,,1;EPS8L1,splice_region_variant,,ENST00000589362,,n.1000A>C,LOW,,,,1;EPS8L1,downstream_gene_variant,,ENST00000587786,,,MODIFIER,,,,1;PPP1R12C,downstream_gene_variant,,ENST00000590268,,,MODIFIER,,,,-1;EPS8L1,upstream_gene_variant,,ENST00000587715,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000592284,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000590232,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000590610,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000589694,,,MODIFIER,,,,1	C	ENST00000201647	Transcript	missense_variant	missense_variant;splice_region_variant	1707/2536	1651/2172	551/723	N/H	Aac/Cac		1		1	EPS8L1	HGNC	HGNC:21295	protein_coding	YES	CCDS12914.1	ENSP00000201647	Q8TE68		UPI000013C630	NM_133180.2	tolerated(0.1)	benign(0.002)	17/20		PROSITE_profiles:PS50099;Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1											PASS	TTCAGAACAGC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			False	Unknown	C	3	2	28	55086392	55086392	A	C	1	0	0	0	0	1	0	0	0	5043	260	9	5		5	EPS8L1	19	55086392	Missense_Mutation	SNP	A	TCGA-V4-A9EZ-01A-11D-A39W-08	46761717	55086392	3531224	22	409											
CDH4	1002	BI	GRCh38	chr20	61936830	61936830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctccaccgcaggctccGtcagctccctgaactcatcc	9	19	2	1	rs780992540	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.2638G>A	p.Val880Ile	p.V880I	ENST00000614565	16/16	31	28	3	32			CDH4,missense_variant,p.V880I,ENST00000614565,NM_001794.3,c.2638G>A,MODERATE,YES,tolerated(0.27),possibly_damaging(0.658),1;CDH4,missense_variant,p.V786I,ENST00000611855,,c.2356G>A,MODERATE,,tolerated(0.48),probably_damaging(0.99),1;CDH4,missense_variant,p.V806I,ENST00000543233,NM_001252339.1&NM_001252338.1,c.2416G>A,MODERATE,,tolerated(0.48),possibly_damaging(0.658),1	A	ENST00000614565	Transcript	missense_variant	missense_variant	2726/6513	2638/2751	880/916	V/I	Gtc/Atc	rs780992540	1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.3	tolerated(0.27)	possibly_damaging(0.658)	16/16		Low_complexity_(Seg):Seg;Pfam_domain:PF01049																	MODERATE	1	SNV	1			1	2.471e-05	2.51e-05	0	0	0	0	4.585e-05	0	0		PASS	GCTCCGTCAGC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a		COSM1028771	True	Unknown	A	3	1	28	61936830	61936830	G	A	1	0	0	0	0	1	0	0	0	2815	1145	40	1		1	CDH4	20	61936830	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		61936830	2507337	23	410											
ZBTB21	49854	BI	GRCh38	chr21	41991321	41991321	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagaagctcctggtgacgCtccagctgcttatgcaccgt	10	14	0	2	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.2775G>A	p.=	p.E925E	ENST00000310826	3/3	94	67	27	66			ZBTB21,synonymous_variant,p.E925E,ENST00000310826,NM_001098402.1,c.2775G>A,LOW,YES,,,-1;ZBTB21,synonymous_variant,p.E724E,ENST00000398505,NM_001098403.1,c.2172G>A,LOW,,,,-1;ZBTB21,synonymous_variant,p.E925E,ENST00000398499,,c.2775G>A,LOW,,,,-1;ZBTB21,synonymous_variant,p.E925E,ENST00000398511,NM_020727.4,c.2775G>A,LOW,,,,-1;ZBTB21,downstream_gene_variant,,ENST00000425521,,,MODIFIER,,,,-1;ZBTB21,downstream_gene_variant,,ENST00000398497,,,MODIFIER,,,,-1;ZBTB21,downstream_gene_variant,,ENST00000449949,,,MODIFIER,,,,-1;ZBTB21,downstream_gene_variant,,ENST00000465968,,,MODIFIER,,,,-1	T	ENST00000310826	Transcript	synonymous_variant	synonymous_variant	2959/7449	2775/3201	925/1066	E	gaG/gaA		1		-1	ZBTB21	HGNC	HGNC:13083	protein_coding	YES	CCDS13678.1	ENSP00000308759	Q9ULJ3		UPI000013C34D	NM_001098402.1			3/3		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	LOW	1	SNV	1			1											PASS	TGACGCTCCAG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	2	4	28	41991321	41991321	C	T	1	0	0	0	0	0	0	0	1	18098	796	28	3		3	ZBTB21	21	41991321	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		41991321	4718662	24	411											
SERPIND1	3053	BI	GRCh38	chr22	20780141	20780141	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggcctcataaaagatGctctggagaatatagaccct	9	10	2	3	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.829G>C	p.Ala277Pro	p.A277P	ENST00000215727	2/5	356	185	171	272			SERPIND1,missense_variant,p.A277P,ENST00000215727,NM_000185.3,c.829G>C,MODERATE,YES,tolerated(0.25),benign(0.394),1;SERPIND1,missense_variant,p.A277P,ENST00000406799,,c.829G>C,MODERATE,,tolerated(0.25),benign(0.394),1;PI4KA,intron_variant,,ENST00000255882,NM_058004.3,c.2328+13052C>G,MODIFIER,YES,,,-1;PI4KA,intron_variant,,ENST00000466162,,n.91+13052C>G,MODIFIER,,,,-1;PI4KA,intron_variant,,ENST00000484220,,n.64+13052C>G,MODIFIER,,,,-1	C	ENST00000215727	Transcript	missense_variant	missense_variant	1112/2437	829/1500	277/499	A/P	Gct/Cct		1		1	SERPIND1	HGNC	HGNC:4838	protein_coding	YES	CCDS13783.1	ENSP00000215727	P05546		UPI000012C603	NM_000185.3	tolerated(0.25)	benign(0.394)	2/5		Pfam_domain:PF00079;SMART_domains:SM00093;Superfamily_domains:SSF56574																	MODERATE	1	SNV	1			1											PASS	AAGATGCTCTG	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	C	3	2	28	20780141	20780141	G	C	1	0	0	0	0	1	0	0	0	14386	1319	46	5		5	SERPIND1	22	20780141	Missense_Mutation	SNP	G	TCGA-V4-A9EZ-01A-11D-A39W-08		20780141	30038327	25	412											
APEX2	27301	BI	GRCh38	chrX	55006862	55006862	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccacctctgtgcacccgcttCctccctgagtttgcaggcac	8	18	1	1	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.984C>A	p.Phe328Leu	p.F328L	ENST00000374987	6/6	51	36	15	42			APEX2,missense_variant,p.F328L,ENST00000374987,NM_014481.3,c.984C>A,MODERATE,YES,tolerated(0.08),benign(0.099),1;ALAS2,downstream_gene_variant,,ENST00000330807,NM_000032.4,,MODIFIER,YES,,,-1;ALAS2,downstream_gene_variant,,ENST00000396198,NM_001037968.3,,MODIFIER,,,,-1;ALAS2,downstream_gene_variant,,ENST00000335854,NM_001037967.3,,MODIFIER,,,,-1;ALAS2,downstream_gene_variant,,ENST00000498636,,,MODIFIER,,,,-1;APEX2,downstream_gene_variant,,ENST00000471758,,,MODIFIER,,,,1	A	ENST00000374987	Transcript	missense_variant	missense_variant	1050/3245	984/1557	328/518	F/L	ttC/ttA		1		1	APEX2	HGNC	HGNC:17889	protein_coding	YES	CCDS14365.1	ENSP00000364126	Q9UBZ4	E5KN95	UPI0000071F5B	NM_014481.3	tolerated(0.08)	benign(0.099)	6/6																			MODERATE	1	SNV	1			1											PASS	CGCTTCCTCCC	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	A	3	1	28	55006862	55006862	C	A	1	0	0	0	0	1	0	0	0	891	854	30	5		5	APEX2	23	55006862	Missense_Mutation	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08		55006862	101034033	26	413											
ARHGAP4	393	BI	GRCh38	chrX	153910344	153910344	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccggtagcagcgtgggCccgaagcacacggccaggtt	16	13	0	0	novel		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	c.1983G>A	p.=	p.G661G	ENST00000350060	17/22	55	28	27	35			ARHGAP4,synonymous_variant,p.G701G,ENST00000370028,NM_001164741.1,c.2103G>A,LOW,YES,,,-1;ARHGAP4,synonymous_variant,p.G661G,ENST00000350060,NM_001666.4,c.1983G>A,LOW,,,,-1;ARHGAP4,synonymous_variant,p.G640G,ENST00000370016,,c.1920G>A,LOW,,,,-1;ARHGAP4,synonymous_variant,p.G483G,ENST00000393721,,c.1449G>A,LOW,,,,-1;ARHGAP4,synonymous_variant,p.G150G,ENST00000442172,,c.449G>A,LOW,,,,-1;ARHGAP4,intron_variant,,ENST00000454164,,c.421+162G>A,MODIFIER,,,,-1;AVPR2,downstream_gene_variant,,ENST00000358927,,,MODIFIER,YES,,,1;AVPR2,downstream_gene_variant,,ENST00000337474,NM_000054.4,,MODIFIER,,,,1;AVPR2,downstream_gene_variant,,ENST00000370049,NM_001146151.1,,MODIFIER,,,,1;AVPR2,downstream_gene_variant,,ENST00000430697,,,MODIFIER,,,,1;ARHGAP4,downstream_gene_variant,,ENST00000422918,,,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000467421,,n.339G>A,MODIFIER,,,,-1;ARHGAP4,3_prime_UTR_variant,,ENST00000404127,,c.*1357G>A,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000470209,,n.1756G>A,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494302,,n.1534G>A,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000494397,,n.580G>A,MODIFIER,,,,-1;ARHGAP4,non_coding_transcript_exon_variant,,ENST00000461739,,n.176G>A,MODIFIER,,,,-1;ARHGAP4,intron_variant,,ENST00000420383,,c.1739-259G>A,MODIFIER,,,,-1;ARHGAP4,downstream_gene_variant,,ENST00000494813,,,MODIFIER,,,,-1;AVPR2,downstream_gene_variant,,ENST00000434679,,,MODIFIER,,,,1;ARHGAP4,upstream_gene_variant,,ENST00000466928,,,MODIFIER,,,,-1;L1CAM,upstream_gene_variant,,ENST00000464967,,,MODIFIER,,,,-1;ARHGAP4,downstream_gene_variant,,ENST00000463905,,,MODIFIER,,,,-1	T	ENST00000350060	Transcript	synonymous_variant	synonymous_variant	2025/3235	1983/2841	661/946	G	ggG/ggA		1		-1	ARHGAP4	HGNC	HGNC:674	protein_coding		CCDS14736.1	ENSP00000203786	P98171		UPI000013C648	NM_001666.4			17/22		Pfam_domain:PF00620;PROSITE_profiles:PS50238;SMART_domains:SM00324;Superfamily_domains:SSF48350																	LOW		SNV	1			1											PASS	GTGGGCCCGAA	dcee381b-05cc-4005-9e73-0c85e41b877c	c5daf469-11eb-41e8-9e38-15c39937cf04	14a7d54c-a56b-4f59-8a56-24f08074ba82	39e494bc-7710-4f9f-98b0-0f509f7aef1a			True	Unknown	T	2	4	28	153910344	153910344	C	T	1	0	0	0	0	0	0	0	1	1011	726	26	3		3	ARHGAP4	23	153910344	Silent	SNP	C	TCGA-V4-A9EZ-01A-11D-A39W-08	98903482	153910344	2130551	27	414											
GNB1	2782	BI	GRCh38	chr1	1787390	1787390	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cgccacagccatgccatcgtCagtcacgcccaggcagctga	10	17	2	1	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.964G>C	p.Asp322His	p.D322H	ENST00000378609	11/12	45	31	14	88			GNB1,missense_variant,p.D322H,ENST00000610897,NM_001282539.1,c.964G>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.581),-1;GNB1,missense_variant,p.D322H,ENST00000378609,NM_002074.4,c.964G>C,MODERATE,,deleterious(0.01),possibly_damaging(0.581),-1;GNB1,missense_variant,p.D222H,ENST00000615252,NM_001282538.1,c.664G>C,MODERATE,,deleterious(0),possibly_damaging(0.581),-1;GNB1,downstream_gene_variant,,ENST00000439272,,,MODIFIER,,,,-1;GNB1,downstream_gene_variant,,ENST00000461893,,,MODIFIER,,,,-1;GNB1,downstream_gene_variant,,ENST00000471354,,,MODIFIER,,,,-1	G	ENST00000378609	Transcript	missense_variant	missense_variant	1296/3132	964/1023	322/340	D/H	Gac/Cac		1		-1	GNB1	HGNC	HGNC:4396	protein_coding		CCDS34.1	ENSP00000367872	P62873	A0A024R056	UPI00000230B3	NM_002074.4	deleterious(0.01)	possibly_damaging(0.581)	11/12		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978;PIRSF_domain:PIRSF002394																	MODERATE		SNV	1			1											PASS	ATCGTCAGTCA	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			True	Unknown	G	3	3	29	1787390	1787390	C	G	1	0	0	0	0	1	0	0	0	6395	826	29	5		5	GNB1	1	1787390	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		1787390	247169032	1	415											
TRIM67	440730	BI	GRCh38	chr1	231163997	231163997	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagccgctgggggccaTgtggaagcagcacaaggtga	18	8	0	2	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.1028T>C	p.Met343Thr	p.M343T	ENST00000366653	1/10	11	8	3	14			TRIM67,missense_variant,p.M343T,ENST00000444294,,c.1028T>C,MODERATE,,tolerated(0.13),benign(0.013),1;TRIM67,missense_variant,p.M343T,ENST00000366653,NM_001004342.3,c.1028T>C,MODERATE,YES,tolerated(0.2),benign(0.001),1;TRIM67,missense_variant,p.M281T,ENST00000449018,NM_001300889.1,c.842T>C,MODERATE,,tolerated(0.22),benign(0.005),1	C	ENST00000366653	Transcript	missense_variant	missense_variant	1028/3936	1028/2352	343/783	M/T	aTg/aCg		1		1	TRIM67	HGNC	HGNC:31859	protein_coding	YES	CCDS44333.1	ENSP00000355613	Q6ZTA4		UPI0000418F23	NM_001004342.3	tolerated(0.2)	benign(0.001)	1/10																			MODERATE	1	SNV	2			1											PASS	GGCCATGTGGA	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			True	Unknown	C	3	2	29	231163997	231163997	T	C	1	0	0	0	0	1	0	0	0	17036	1464	51	4		4	TRIM67	1	231163997	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	229376607	231163997	17792425	2	416											
PKP4	8502	BI	GRCh38	chr2	158642650	158642650	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggatacctgccttgttGcgactgttgagaaaatctat	12	7	1	1	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.1860G>C	p.Leu620Phe	p.L620F	ENST00000389759	11/22	81	77	4	102			PKP4,missense_variant,p.L620F,ENST00000389757,NM_001005476.1,c.1860G>C,MODERATE,,tolerated(0.06),benign(0.162),1;PKP4,missense_variant,p.L620F,ENST00000389759,NM_003628.3&NM_001304969.1,c.1860G>C,MODERATE,YES,tolerated(0.06),possibly_damaging(0.582),1;PKP4,missense_variant,p.L619F,ENST00000628904,,c.1857G>C,MODERATE,,tolerated(0.06),probably_damaging(0.988),1;PKP4,downstream_gene_variant,,ENST00000494945,,,MODIFIER,,,,1;PKP4,3_prime_UTR_variant,,ENST00000426248,,c.*1129G>C,MODIFIER,,,,1;PKP4,3_prime_UTR_variant,,ENST00000421462,,c.*1132G>C,MODIFIER,,,,1;PKP4,3_prime_UTR_variant,,ENST00000452162,,c.*1606G>C,MODIFIER,,,,1;PKP4,non_coding_transcript_exon_variant,,ENST00000492496,,n.131G>C,MODIFIER,,,,1	C	ENST00000389759	Transcript	missense_variant	missense_variant	1972/4443	1860/3579	620/1192	L/F	ttG/ttC		1		1	PKP4	HGNC	HGNC:9026	protein_coding	YES	CCDS33305.1	ENSP00000374409	Q99569		UPI000044D379	NM_003628.3;NM_001304969.1	tolerated(0.06)	possibly_damaging(0.582)	11/22		Pfam_domain:PF00514;PROSITE_profiles:PS50176;SMART_domains:SM00185;Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TTGTTGCGACT	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			False	Unknown	C	3	2	29	158642650	158642650	G	C	1	0	0	0	0	1	0	0	0	12083	1310	46	5		5	PKP4	2	158642650	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		158642650	83550879	3	417											
TNIP1	10318	BI	GRCh38	chr5	151032323	151032323	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtgggagggtccatcaCttgggagctctgatttggat	16	7	2	1	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.1840G>C	p.Val614Leu	p.V614L	ENST00000315050	17/18	35	16	19	29			TNIP1,missense_variant,p.K619N,ENST00000389378,NM_001252385.1,c.1857G>C,MODERATE,,deleterious_low_confidence(0.05),benign(0.001),-1;TNIP1,missense_variant,p.V614L,ENST00000315050,NM_001252391.1,c.1840G>C,MODERATE,YES,tolerated_low_confidence(0.06),benign(0.183),-1;TNIP1,missense_variant,p.V550L,ENST00000610535,NM_001258455.1,c.1648G>C,MODERATE,,deleterious_low_confidence(0.03),benign(0.064),-1;TNIP1,missense_variant,p.V614L,ENST00000523338,NM_001252392.1,c.1840G>C,MODERATE,,tolerated_low_confidence(0.06),benign(0.442),-1;TNIP1,missense_variant,p.V561L,ENST00000520931,NM_001252386.1,c.1681G>C,MODERATE,,tolerated_low_confidence(0.05),benign(0.183),-1;TNIP1,missense_variant,p.V614L,ENST00000521591,NM_006058.4&NM_001258454.1,c.1840G>C,MODERATE,,tolerated_low_confidence(0.06),benign(0.183),-1;TNIP1,missense_variant,p.V614L,ENST00000522226,NM_001252390.1,c.1840G>C,MODERATE,,tolerated_low_confidence(0.06),benign(0.183),-1;TNIP1,missense_variant,p.V614L,ENST00000518977,NM_001252393.1,c.1840G>C,MODERATE,,tolerated_low_confidence(0.06),benign(0.442),-1;TNIP1,missense_variant,p.V550L,ENST00000523200,,c.1648G>C,MODERATE,,deleterious_low_confidence(0.03),benign(0.064),-1;TNIP1,intron_variant,,ENST00000610874,NM_001258456.1,c.1588-1576G>C,MODIFIER,,,,-1;TNIP1,intron_variant,,ENST00000524280,,c.1588-1576G>C,MODIFIER,,,,-1;TNIP1,intron_variant,,ENST00000517504,,c.388-2200G>C,MODIFIER,,,,-1;GPX3,downstream_gene_variant,,ENST00000622181,,,MODIFIER,,,,1;GPX3,downstream_gene_variant,,ENST00000388825,NM_002084.3,,MODIFIER,YES,,,1;GPX3,downstream_gene_variant,,ENST00000614343,,,MODIFIER,,,,1;GPX3,downstream_gene_variant,,ENST00000521632,,,MODIFIER,,,,1;GPX3,downstream_gene_variant,,ENST00000517973,,,MODIFIER,,,,1;GPX3,downstream_gene_variant,,ENST00000521650,,,MODIFIER,,,,1;GPX3,downstream_gene_variant,,ENST00000520059,,,MODIFIER,,,,1;TNIP1,non_coding_transcript_exon_variant,,ENST00000521423,,n.653G>C,MODIFIER,,,,-1;TNIP1,3_prime_UTR_variant,,ENST00000519339,,c.*110G>C,MODIFIER,,,,-1;TNIP1,non_coding_transcript_exon_variant,,ENST00000522574,,n.1094G>C,MODIFIER,,,,-1;TNIP1,downstream_gene_variant,,ENST00000517329,,,MODIFIER,,,,-1;GPX3,downstream_gene_variant,,ENST00000520597,,,MODIFIER,,,,1	G	ENST00000315050	Transcript	missense_variant	missense_variant	1950/2785	1840/1911	614/636	V/L	Gtg/Ctg		1		-1	TNIP1	HGNC	HGNC:16903	protein_coding	YES	CCDS34280.1	ENSP00000317891	Q15025		UPI000000DCDC	NM_001252391.1	tolerated_low_confidence(0.06)	benign(0.183)	17/18		PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CATCACTTGGG	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			True	Unknown	G	3	3	29	151032323	151032323	C	G	1	0	0	0	0	1	0	0	0	16787	565	20	5		5	TNIP1	5	151032323	Missense_Mutation	SNP	C	TCGA-V4-A9F0-01A-11D-A39W-08		151032323	30505936	4	418											
KCNV1	27012	BI	GRCh38	chr8	109972517	109972517	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctaatgcacacatactccagGatttccagcagctgcaggtc	8	13	0	0	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.732C>G	p.Ile244Met	p.I244M	ENST00000297404	2/3	81	56	25	46			KCNV1,missense_variant,p.I244M,ENST00000524391,,c.732C>G,MODERATE,YES,tolerated(0.31),benign(0.382),-1;KCNV1,missense_variant,p.I244M,ENST00000297404,NM_014379.2,c.732C>G,MODERATE,,tolerated(0.31),benign(0.382),-1;RP11-696P8.2,upstream_gene_variant,,ENST00000530667,,,MODIFIER,YES,,,1	C	ENST00000297404	Transcript	missense_variant	missense_variant	1074/2927	732/1503	244/500	I/M	atC/atG		1		-1	KCNV1	HGNC	HGNC:18861	protein_coding		CCDS6314.1	ENSP00000297404	Q6PIU1			NM_014379.2	tolerated(0.31)	benign(0.382)	2/3		Pfam_domain:PF00520;Transmembrane_helices:Tmhmm;Prints_domain:PR00169;Superfamily_domains:SSF81324																	MODERATE		SNV	1			1											PASS	TCCAGGATTTC	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			True	Unknown	C	3	2	29	109972517	109972517	G	C	1	0	0	0	0	1	0	0	0	8010	1164	41	5		5	KCNV1	8	109972517	Missense_Mutation	SNP	G	TCGA-V4-A9F0-01A-11D-A39W-08		109972517	35166119	5	419											
TYRP1	7306	BI	GRCh38	chr9	12704605	12704606	+	Frame_Shift_Ins	INS	-	-	GG													atctattcctgaatggaacaINSgggggacaaacccatttgtc					novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.1165_1166dupGG	p.Gln390AspfsTer27	p.Q390Dfs*27	ENST00000388918	6/8	87	65	22	86			TYRP1,frameshift_variant,p.Q390Dfs*27,ENST00000388918,NM_000550.2,c.1165_1166dupGG,HIGH,YES,,,1;TYRP1,frameshift_variant,p.Q100Dfs*27,ENST00000381136,,c.295_296dupGG,HIGH,,,,1;LURAP1L-AS1,intron_variant,,ENST00000417638,,n.273-3981_273-3980dupCC,MODIFIER,YES,,,-1;TYRP1,non_coding_transcript_exon_variant,,ENST00000381142,,n.402_403dupGG,MODIFIER,,,,1;TYRP1,upstream_gene_variant,,ENST00000473504,,,MODIFIER,,,,1;TYRP1,downstream_gene_variant,,ENST00000470909,,,MODIFIER,,,,1	GG	ENST00000388918	Transcript	frameshift_variant	frameshift_variant	1290-1291/2851	1161-1162/1614	387-388/537	-/X	-/GG		1		1	TYRP1	HGNC	HGNC:12450	protein_coding	YES	CCDS34990.1	ENSP00000373570	P17643		UPI0000039DCA	NM_000550.2			6/8		Pfam_domain:PF00264;Superfamily_domains:SSF48056																	HIGH	1	insertion	1	5		1											PASS	GGAACAGGGGG	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			True	Unknown	GG	7	5	29	12704605	12704605	-	GG	1	0	1	1	0	0	0	0	0	17331	175	7	0		0	TYRP1	9	12704605	Frame_Shift_Ins	INS	-	TCGA-V4-A9F0-01A-11D-A39W-08		12704605	125690112	6	420											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	97	52	45	117			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612		COSM28757	True	Unknown	A	3	1	29	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9F0-01A-11D-A39W-08	65089967	77794572	60600145	7	421											
MKL1	57591	BI	GRCh38	chr22	40424357	40424357	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaagagctgtctgctActttgggatagttcacctgg	13	8	2	1	novel		TCGA-V4-A9F0-01A-11D-A39W-08	TCGA-V4-A9F0-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5f288b49-acca-40d6-ac9a-cac04d1f87e5	f87d55ec-e854-405b-8e88-18e4ef68e032	c.326T>C	p.Val109Ala	p.V109A	ENST00000355630	8/15	49	45	4	56			MKL1,missense_variant,p.V109A,ENST00000396617,NM_001282662.1,c.326T>C,MODERATE,,tolerated(0.2),benign(0.02),-1;MKL1,missense_variant,p.V109A,ENST00000355630,NM_020831.4,c.326T>C,MODERATE,YES,tolerated(0.33),probably_damaging(0.93),-1;MKL1,missense_variant,p.V109A,ENST00000402042,NM_001282661.1,c.326T>C,MODERATE,,tolerated(0.67),benign(0),-1;MKL1,missense_variant,p.V144A,ENST00000618196,,c.431T>C,MODERATE,,tolerated(0.52),benign(0.008),-1;MKL1,missense_variant,p.V109A,ENST00000407029,NM_001282660.1,c.326T>C,MODERATE,,tolerated(0.33),probably_damaging(0.93),-1;MKL1,missense_variant,p.V110A,ENST00000614754,,c.329T>C,MODERATE,,tolerated(0.21),benign(0.045),-1;MKL1,missense_variant,p.V110A,ENST00000620651,,c.329T>C,MODERATE,,tolerated(0.53),benign(0),-1;MKL1,intron_variant,,ENST00000618417,,c.-1245-11465T>C,MODIFIER,,,,-1;MKL1,downstream_gene_variant,,ENST00000402630,,,MODIFIER,,,,-1	G	ENST00000355630	Transcript	missense_variant	missense_variant	917/4496	326/2796	109/931	V/A	gTa/gCa		1		-1	MKL1	HGNC	HGNC:14334	protein_coding	YES	CCDS14003.1	ENSP00000347847	Q969V6		UPI000007311D	NM_020831.4	tolerated(0.33)	probably_damaging(0.93)	8/15																			MODERATE	1	SNV	1			1											PASS	CTGCTACTTTG	66326586-6d3a-45e0-bea3-d814bb61cf38	1d5255fa-7616-42a6-8a6b-63a76c98b36a	20029cef-17cd-4460-addd-582e4d65b524	92fca97d-6123-46a7-9c34-7a6f877fe612			False	Unknown	G	3	3	29	40424357	40424357	A	G	1	0	0	0	0	1	0	0	0	9568	391	14	4		4	MKL1	22	40424357	Missense_Mutation	SNP	A	TCGA-V4-A9F0-01A-11D-A39W-08		40424357	10394111	8	422											
AADACL4	343066	BI	GRCh38	chr1	12651227	12651227	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaacttgtggtgaccgaCctgcgttttgggacgatacc	12	11	0	2	rs770479268	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.273C>T	p.=	p.D91D	ENST00000376221	2/4	106	58	48	120			AADACL4,synonymous_variant,p.D91D,ENST00000376221,NM_001013630.1,c.273C>T,LOW,YES,,,1	T	ENST00000376221	Transcript	synonymous_variant	synonymous_variant	273/1575	273/1224	91/407	D	gaC/gaT	rs770479268	1		1	AADACL4	HGNC	HGNC:32038	protein_coding	YES	CCDS30590.1	ENSP00000365395	Q5VUY2			NM_001013630.1			2/4		Superfamily_domains:SSF53474;PIRSF_domain:PIRSF037251																	LOW	1	SNV	5			1	1.647e-05	1.647e-05	0	0	0	0.0003024	0	0	0		PASS	ACCGACCTGCG	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	T	2	4	30	12651227	12651227	C	T	1	0	0	0	0	0	0	0	1	13	506	18	3		3	AADACL4	1	12651227	Silent	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		12651227	236305195	1	423											
RPL11	6135	BI	GRCh38	chr1	23692738	23692739	+	Frame_Shift_Ins	INS	-	-	AG													gttggagcagctcacagggcINSagacccctgtgttttccaaa					novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.138_139dupGA	p.Thr47ArgfsTer42	p.T47Rfs*42	ENST00000374550	2/6	107	60	47	100			RPL11,frameshift_variant,p.T45Rfs*42,ENST00000443624,,c.132_133dupGA,HIGH,,,,1;RPL11,frameshift_variant,p.T45Rfs*42,ENST00000458455,,c.132_133dupGA,HIGH,,,,1;RPL11,frameshift_variant,p.T47Rfs*42,ENST00000374550,NM_000975.3&NM_001199802.1,c.138_139dupGA,HIGH,YES,,,1;RPL11,non_coding_transcript_exon_variant,,ENST00000482370,,n.435_436dupGA,MODIFIER,,,,1;RPL11,non_coding_transcript_exon_variant,,ENST00000467075,,n.358_359dupGA,MODIFIER,,,,1	AG	ENST00000374550	Transcript	frameshift_variant	frameshift_variant	181-182/634	136-137/537	46/178	Q/QX	cag/cAGag		1		1	RPL11	HGNC	HGNC:10301	protein_coding	YES	CCDS238.1	ENSP00000363676	P62913	Q5VVD0	UPI00000019F7	NM_000975.3;NM_001199802.1			2/6		Pfam_domain:PF00281;Superfamily_domains:SSF55282;PIRSF_domain:PIRSF002161																	HIGH	1	insertion	1	3		1											PASS	CAGGGCAGACC	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	AG	7	5	30	23692738	23692738	-	AG	1	0	1	1	0	0	0	0	0	13809	711	25	0		0	RPL11	1	23692738	Frame_Shift_Ins	INS	-	TCGA-V4-A9F1-01A-11D-A39W-08	11041511	23692738	225263684	2	424											
SEMA4A	64218	BI	GRCh38	chr1	156176621	156176621	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttttcataccctgtgatctCctactgggtggacagccagg	10	12	2	1	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.1910C>G	p.Ser637Cys	p.S637C	ENST00000355014	15/15	42	27	15	42			SEMA4A,missense_variant,p.S637C,ENST00000368285,NM_001193300.1&NM_022367.3,c.1910C>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.96),1;SEMA4A,missense_variant,p.S637C,ENST00000368282,,c.1910C>G,MODERATE,,deleterious(0.01),probably_damaging(0.96),1;SEMA4A,missense_variant,p.S637C,ENST00000355014,NM_001193301.1,c.1910C>G,MODERATE,,deleterious(0.01),probably_damaging(0.96),1;SEMA4A,missense_variant,p.S599C,ENST00000368286,,c.1796C>G,MODERATE,,deleterious(0.01),probably_damaging(0.96),1;SEMA4A,missense_variant,p.S505C,ENST00000368284,NM_001193302.1,c.1514C>G,MODERATE,,deleterious(0.03),probably_damaging(0.948),1;SEMA4A,non_coding_transcript_exon_variant,,ENST00000484155,,n.541C>G,MODIFIER,,,,1;SEMA4A,downstream_gene_variant,,ENST00000487358,,,MODIFIER,,,,1;SEMA4A,downstream_gene_variant,,ENST00000462892,,,MODIFIER,,,,1	G	ENST00000355014	Transcript	missense_variant	missense_variant	2014/3137	1910/2286	637/761	S/C	tCc/tGc		1		1	SEMA4A	HGNC	HGNC:10729	protein_coding		CCDS1132.1	ENSP00000347117	Q9H3S1		UPI000007217A	NM_001193301.1	deleterious(0.01)	probably_damaging(0.96)	15/15		Superfamily_domains:SSF48726																	MODERATE		SNV	1			1											PASS	GATCTCCTACT	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	G	3	3	30	156176621	156176621	C	G	1	0	0	0	0	1	0	0	0	14307	855	30	5		5	SEMA4A	1	156176621	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	132483883	156176621	92779801	3	425											
PLD5	200150	BI	GRCh38	chr1	242100706	242100706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaccatgtacttgttgCgatttaacctaggaaaggtg	10	8	1	0	rs747669178	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.1316G>A	p.Arg439His	p.R439H	ENST00000442594	10/11	51	33	18	78			PLD5,missense_variant,p.R439H,ENST00000536534,,c.1316G>A,MODERATE,YES,tolerated(1),benign(0.015),-1;PLD5,missense_variant,p.R439H,ENST00000442594,NM_152666.2,c.1316G>A,MODERATE,,tolerated(1),benign(0.015),-1;PLD5,missense_variant,p.R377H,ENST00000427495,NM_001195812.1&NM_001195811.1,c.1130G>A,MODERATE,,tolerated(1),benign(0.011),-1;PLD5,3_prime_UTR_variant,,ENST00000314833,,c.*824G>A,MODIFIER,,,,-1;PLD5,3_prime_UTR_variant,,ENST00000366545,,c.*993G>A,MODIFIER,,,,-1	T	ENST00000442594	Transcript	missense_variant	missense_variant	1543/3305	1316/1611	439/536	R/H	cGc/cAc	rs747669178	1		-1	PLD5	HGNC	HGNC:26879	protein_coding		CCDS1621.2	ENSP00000414188	Q8N7P1		UPI000040E1A4	NM_152666.2	tolerated(1)	benign(0.015)	10/11		SMART_domains:SM00155;Superfamily_domains:SSF56024																	MODERATE		SNV	5			1	4.118e-05	4.119e-05	0	0	0	0	4.495e-05	0	0.0001211		PASS	TGTTGCGATTT	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76		COSM1340695;COSM1340696;COSM4785640	True	Unknown	T	3	4	30	242100706	242100706	C	T	1	0	0	0	0	1	0	0	0	12143	768	27	2		2	PLD5	1	242100706	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	85924085	242100706	6855716	4	426											
SLC35F6	54978	BI	GRCh38	chr2	26775649	26775649	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcctgagcaagcacgacagtCagcacaagctcagcgaagtg	11	12	2	1	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.508C>G	p.Gln170Glu	p.Q170E	ENST00000344420	4/6	5	4	1	9			SLC35F6,missense_variant,p.Q170E,ENST00000344420,NM_017877.3,c.508C>G,MODERATE,YES,tolerated(0.98),benign(0.004),1;SLC35F6,non_coding_transcript_exon_variant,,ENST00000482746,,n.323C>G,MODIFIER,,,,1;CENPA,intron_variant,,ENST00000475662,,n.138+11223C>G,MODIFIER,,,,1;SLC35F6,3_prime_UTR_variant,,ENST00000429494,,c.*267C>G,MODIFIER,,,,1;SLC35F6,3_prime_UTR_variant,,ENST00000414029,,c.*180C>G,MODIFIER,,,,1	G	ENST00000344420	Transcript	missense_variant	missense_variant	570/3898	508/1116	170/371	Q/E	Cag/Gag		1		1	SLC35F6	HGNC	HGNC:26055	protein_coding	YES	CCDS1728.1	ENSP00000345528	Q8N357		UPI0000071B52	NM_017877.3	tolerated(0.98)	benign(0.004)	4/6		Pfam_domain:PF06027;Pfam_domain:PF04142;Pfam_domain:PF08449;PIRSF_domain:PIRSF036436																	MODERATE	1	SNV	1			1											PASS	ACAGTCAGCAC	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			False	Unknown	G	3	3	30	26775649	26775649	C	G	1	0	0	0	0	1	0	0	0	14864	827	29	5		5	SLC35F6	2	26775649	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		26775649	215417880	5	427											
ALPI	248	BI	GRCh38	chr2	232458747	232458747	+	Splice_Region	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgaatgagagcgagagCggtgagtgaggctgaatggc	19	5	0	6	rs773147145		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.1299C>T	p.=	p.S433S	ENST00000295463	10/11	46	24	22	49			ALPI,splice_region_variant,p.S433S,ENST00000295463,NM_001631.3,c.1299C>T,LOW,YES,,,1;ALPI,splice_region_variant,,ENST00000457560,,c.*1228C>T,LOW,,,,1	T	ENST00000295463	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	1376/2550	1299/1587	433/528	S	agC/agT	rs773147145	1		1	ALPI	HGNC	HGNC:437	protein_coding	YES	CCDS2492.1	ENSP00000295463	P09923	A0A024R4A2	UPI0000131FFE	NM_001631.3			10/11		Pfam_domain:PF00245;SMART_domains:SM00098;Superfamily_domains:SSF53649																	LOW	1	SNV	1			1	8.237e-06	8.356e-06	0	0	0	0	1.522e-05	0	0		PASS	GAGAGCGGTGA	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	T	5	4	30	232458747	232458747	C	T	1	0	0	0	0	0	0	1	0	643	782	27	2		2	ALPI	2	232458747	Splice_Region	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	205683098	232458747	9734782	6	428											
BAP1	8314	BI	GRCh38	chr3	52409577	52409577	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacatttgctctgaaggtcGtagatctcctccacttgcac	8	12	2	3	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.99C>G	p.Tyr33Ter	p.Y33*	ENST00000460680	3/17	101	26	75	278			BAP1,stop_gained,p.Y33*,ENST00000460680,NM_004656.3,c.99C>G,HIGH,YES,,,-1;BAP1,stop_gained,p.Y33*,ENST00000296288,,c.99C>G,HIGH,,,,-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-139C>G,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000461861,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,stop_gained,p.Y33*,ENST00000490917,,c.99C>G,HIGH,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.99C>G,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	stop_gained	stop_gained	571/3937	99/2190	33/729	Y/*	taC/taG		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			3/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	HIGH	1	SNV	1			1											PASS	AGGTCGTAGAT	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	C	4	2	30	52409577	52409577	G	C	1	0	0	0	0	0	1	0	0	1463	1140	40	5		5	BAP1	3	52409577	Nonsense_Mutation	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08		52409577	145885982	7	429											
TSPYL4	23270	BI	GRCh38	chr6	116253131	116253131	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgaacttgaatttgcagCctgctctggggtgtttaagc	12	7	1	3			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.878G>A	p.Gly293Asp	p.G293D	ENST00000420283	1/1	34	31	3	47			TSPYL4,missense_variant,p.G293D,ENST00000420283,NM_021648.4,c.878G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;NT5DC1,downstream_gene_variant,,ENST00000319550,NM_152729.2,,MODIFIER,YES,,,1;DSE,upstream_gene_variant,,ENST00000430252,,,MODIFIER,,,,1;RP3-486I3.7,upstream_gene_variant,,ENST00000448740,,,MODIFIER,YES,,,1	T	ENST00000420283	Transcript	missense_variant	missense_variant	1010/4180	878/1245	293/414	G/D	gGc/gAc		1		-1	TSPYL4	HGNC	HGNC:21559	protein_coding	YES	CCDS5106.1	ENSP00000410943	Q9UJ04		UPI00001BBB76	NM_021648.4	deleterious(0)	probably_damaging(0.999)	1/1		Pfam_domain:PF00956;Superfamily_domains:SSF143113																	MODERATE		SNV				1											PASS	TGCAGCCTGCT	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76		COSM5746626	False	Unknown	T	3	4	30	116253131	116253131	C	T	1	0	0	0	0	1	0	0	0	17168	739	26	3		3	TSPYL4	6	116253131	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		116253131	54552848	8	430											
KAT6A	7994	BI	GRCh38	chr8	41932604	41932628	+	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	CTGCTGGTGAGCAGCCGCAGAGGGC	-													gggctacggccatacagctgCtgctggtgagcagccgcaga					novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	p.Pro1865SerfsTer25	p.P1865Sfs*25	ENST00000265713	17/17	14	2	12	33			KAT6A,frameshift_variant,p.P1865Sfs*25,ENST00000396930,NM_001099412.1,c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG,HIGH,YES,,,-1;KAT6A,frameshift_variant,p.P1865Sfs*25,ENST00000406337,NM_001099413.1,c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG,HIGH,,,,-1;KAT6A,frameshift_variant,p.P1865Sfs*25,ENST00000265713,NM_006766.3,c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG,HIGH,,,,-1;KAT6A,downstream_gene_variant,,ENST00000418721,,,MODIFIER,,,,-1	-	ENST00000265713	Transcript	frameshift_variant	frameshift_variant	6004-6028/9153	5592-5616/6015	1864-1872/2004	LPSAAAHQQ/X	ctGCCCTCTGCGGCTGCTCACCAGCAG/ct		1		-1	KAT6A	HGNC	HGNC:13013	protein_coding		CCDS6124.1	ENSP00000265713	Q92794		UPI000013D666	NM_006766.3			17/17																			HIGH		deletion	1			1											PASS	CAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGG	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			False	Unknown	-	7	5	30	41932604	41932604	CTGCTGGTGAGCAGCCGCAGAGGGC	-	1	0	1	0	1	0	0	0	0	7898	796	28	0		0	KAT6A	8	41932604	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	TCGA-V4-A9F1-01A-11D-A39W-08		41932604	103206032	9	431											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	87	52	35	80			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76		COSM28758	True	Unknown	G	3	3	30	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08		77794572	60600145	10	432											
RRP12	23223	BI	GRCh38	chr10	97390465	97390465	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagcagcccatggtaCacctgaagggtcacggggta	13	11	2	1	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.711G>C	p.=	p.V237V	ENST00000370992	6/34	37	33	4	57			RRP12,synonymous_variant,p.V237V,ENST00000536831,,c.711G>C,LOW,YES,,,-1;RRP12,synonymous_variant,p.V237V,ENST00000370992,NM_015179.3,c.711G>C,LOW,,,,-1;RRP12,synonymous_variant,p.V176V,ENST00000414986,NM_001145114.1,c.528G>C,LOW,,,,-1;RRP12,intron_variant,,ENST00000315563,NM_001284337.1,c.454-1841G>C,MODIFIER,,,,-1;RRP12,downstream_gene_variant,,ENST00000618765,,,MODIFIER,,,,-1;RRP12,upstream_gene_variant,,ENST00000479317,,,MODIFIER,,,,-1;RP11-452K12.6,downstream_gene_variant,,ENST00000442771,,,MODIFIER,YES,,,-1	G	ENST00000370992	Transcript	synonymous_variant	synonymous_variant	850/4425	711/3894	237/1297	V	gtG/gtC		1		-1	RRP12	HGNC	HGNC:29100	protein_coding		CCDS7457.1	ENSP00000360031	Q5JTH9			NM_015179.3			6/34		Superfamily_domains:SSF48371																	LOW		SNV	1			1											PASS	TGGTACACCTG	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			False	Unknown	G	2	3	30	97390465	97390465	C	G	1	0	0	0	0	0	0	0	1	13941	465	17	5		5	RRP12	10	97390465	Silent	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		97390465	36406957	11	433											
EPS8L2	64787	BI	GRCh38	chr11	722155	722155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcacttcctcttcgggcCtctggacctggtgcctgggg	14	14	2	0	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.1049C>T	p.Pro350Leu	p.P350L	ENST00000318562	12/21	21	17	4	33			EPS8L2,missense_variant,p.P350L,ENST00000533256,,c.1049C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;EPS8L2,missense_variant,p.P366L,ENST00000614442,,c.1097C>T,MODERATE,,deleterious(0),probably_damaging(1),1;EPS8L2,missense_variant,p.P350L,ENST00000318562,NM_022772.3,c.1049C>T,MODERATE,,deleterious(0),probably_damaging(1),1;EPS8L2,missense_variant,p.P350L,ENST00000530636,,c.1049C>T,MODERATE,,deleterious(0),probably_damaging(1),1;EPS8L2,missense_variant,p.P366L,ENST00000526198,,c.1097C>T,MODERATE,,deleterious(0),probably_damaging(1),1;EPS8L2,5_prime_UTR_variant,,ENST00000610855,,c.-351C>T,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000533500,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000531348,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000524763,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000534755,,,MODIFIER,,,,1;AP006621.9,intron_variant,,ENST00000527021,,n.72+4821G>A,MODIFIER,YES,,,-1;EPS8L2,upstream_gene_variant,,ENST00000534449,,,MODIFIER,,,,1;EPS8L2,upstream_gene_variant,,ENST00000524973,,,MODIFIER,,,,1;EPS8L2,synonymous_variant,p.A131A,ENST00000528770,,c.392C>T,LOW,,,,1;EPS8L2,3_prime_UTR_variant,,ENST00000526909,,c.*1754C>T,MODIFIER,,,,1;EPS8L2,non_coding_transcript_exon_variant,,ENST00000531393,,n.230C>T,MODIFIER,,,,1;EPS8L2,non_coding_transcript_exon_variant,,ENST00000529346,,n.1571C>T,MODIFIER,,,,1;EPS8L2,non_coding_transcript_exon_variant,,ENST00000524474,,n.713C>T,MODIFIER,,,,1;EPS8L2,non_coding_transcript_exon_variant,,ENST00000533816,,n.352C>T,MODIFIER,,,,1;EPS8L2,intron_variant,,ENST00000530452,,c.318-246C>T,MODIFIER,,,,1;EPS8L2,intron_variant,,ENST00000526651,,n.472+164C>T,MODIFIER,,,,1;EPS8L2,upstream_gene_variant,,ENST00000527832,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000527807,,,MODIFIER,,,,1;EPS8L2,upstream_gene_variant,,ENST00000534679,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000530118,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000531471,,,MODIFIER,,,,1;EPS8L2,downstream_gene_variant,,ENST00000532545,,,MODIFIER,,,,1;EPS8L2,upstream_gene_variant,,ENST00000534027,,,MODIFIER,,,,1	T	ENST00000318562	Transcript	missense_variant	missense_variant	1303/3148	1049/2148	350/715	P/L	cCt/cTt		1		1	EPS8L2	HGNC	HGNC:21296	protein_coding		CCDS31328.1	ENSP00000320828	Q9H6S3		UPI000006226C	NM_022772.3	deleterious(0)	probably_damaging(1)	12/21																			MODERATE		SNV	1			1											PASS	CGGGCCTCTGG	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	T	3	4	30	722155	722155	C	T	1	0	0	0	0	1	0	0	0	5044	681	24	3		3	EPS8L2	11	722155	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08		722155	134364467	12	434											
PGR	5241	BI	GRCh38	chr11	101128815	101128815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcagctctggaatatgCgccctccacgtccgacagcg	10	15	2	0			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.256G>A	p.Ala86Thr	p.A86T	ENST00000325455	1/8	64	59	5	43			PGR,missense_variant,p.A86T,ENST00000325455,NM_001202474.3&NM_000926.4,c.256G>A,MODERATE,YES,tolerated_low_confidence(0.08),probably_damaging(0.989),-1;PGR,missense_variant,p.A86T,ENST00000619228,,c.256G>A,MODERATE,,tolerated_low_confidence(0.07),probably_damaging(0.997),-1;PGR,missense_variant,p.A86T,ENST00000617858,,c.256G>A,MODERATE,,tolerated(0.06),probably_damaging(0.998),-1;PGR,missense_variant,p.A86T,ENST00000263463,NM_001271161.2,c.256G>A,MODERATE,,deleterious_low_confidence(0.04),benign(0.222),-1;PGR,intron_variant,,ENST00000534013,NM_001271162.1,c.-146+613G>A,MODIFIER,,,,-1;PGR,missense_variant,p.A86T,ENST00000534780,,c.256G>A,MODERATE,,tolerated(0.07),benign(0.38),-1;PGR,missense_variant,p.A86T,ENST00000528960,,c.256G>A,MODERATE,,tolerated_low_confidence(0.07),probably_damaging(0.997),-1;PGR,missense_variant,p.A86T,ENST00000526300,,c.256G>A,MODERATE,,tolerated(0.06),probably_damaging(0.994),-1	T	ENST00000325455	Transcript	missense_variant	missense_variant	1710/13748	256/2802	86/933	A/T	Gca/Aca		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401			NM_001202474.3;NM_000926.4	tolerated_low_confidence(0.08)	probably_damaging(0.989)	1/8		Pfam_domain:PF02161																	MODERATE	1	SNV	1			1											PASS	ATATGCGCCCT	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76		COSM4017175;COSM4183322	False	Unknown	T	3	4	30	101128815	101128815	C	T	1	0	0	0	0	1	0	0	0	11894	768	27	2		2	PGR	11	101128815	Missense_Mutation	SNP	C	TCGA-V4-A9F1-01A-11D-A39W-08	100406660	101128815	33957807	13	435											
C3	718	BI	GRCh38	chr19	6684406	6684406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtacagatctcaaggAtcatagtgttcttggcatcc	9	10	3	1	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.4154T>C	p.Ile1385Thr	p.I1385T	ENST00000245907	33/41	99	56	43	112			C3,missense_variant,p.I1385T,ENST00000245907,NM_000064.2,c.4154T>C,MODERATE,YES,tolerated(0.52),benign(0.001),-1;C3,missense_variant,p.I92T,ENST00000596548,,c.275T>C,MODERATE,,tolerated(0.45),benign(0.006),-1;C3,intron_variant,,ENST00000601008,,c.241+2340T>C,MODIFIER,,,,-1;C3,upstream_gene_variant,,ENST00000599668,,,MODIFIER,,,,-1;C3,non_coding_transcript_exon_variant,,ENST00000596179,,n.107T>C,MODIFIER,,,,-1;C3,upstream_gene_variant,,ENST00000599899,,,MODIFIER,,,,-1;C3,downstream_gene_variant,,ENST00000598805,,,MODIFIER,,,,-1;C3,downstream_gene_variant,,ENST00000596238,,,MODIFIER,,,,-1	G	ENST00000245907	Transcript	missense_variant	missense_variant	4247/5263	4154/4992	1385/1663	I/T	aTc/aCc		1		-1	C3	HGNC	HGNC:1318	protein_coding	YES	CCDS32883.1	ENSP00000245907	P01024	V9HWA9	UPI000013EC9B	NM_000064.2	tolerated(0.52)	benign(0.001)	33/41		Superfamily_domains:SSF49410																	MODERATE	1	SNV	1			1											PASS	CAAGGATCATA	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	G	3	3	30	6684406	6684406	A	G	1	0	0	0	0	1	0	0	0	2057	333	12	4		4	C3	19	6684406	Missense_Mutation	SNP	A	TCGA-V4-A9F1-01A-11D-A39W-08		6684406	51933210	14	436											
PSG7	5675	BI	GRCh38	chr19	42906950	42906950	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgactatcatggatttggaGatttccttgccagtggctga	11	7	1	3	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.1212C>A	p.=	p.I404I	ENST00000292125	5/6	195	122	73	239			PSG6,synonymous_variant,p.I404I,ENST00000187910,NM_001031850.3,c.1212C>A,LOW,,,,-1;PSG7,synonymous_variant,p.I405I,ENST00000617049,,c.1215C>A,LOW,,,,-1;PSG6,synonymous_variant,p.I311I,ENST00000402603,,c.933C>A,LOW,,,,-1;PSG6,synonymous_variant,p.I404I,ENST00000292125,NM_002782.4,c.1212C>A,LOW,YES,,,-1;PSG6,downstream_gene_variant,,ENST00000594375,,,MODIFIER,,,,-1;PSG6,3_prime_UTR_variant,,ENST00000599753,,c.*569C>A,MODIFIER,,,,-1;PSG6,non_coding_transcript_exon_variant,,ENST00000595062,,n.780C>A,MODIFIER,,,,-1;PSG6,downstream_gene_variant,,ENST00000402456,,,MODIFIER,,,,-1;PSG6,downstream_gene_variant,,ENST00000484292,,,MODIFIER,,,,-1	T	ENST00000292125	Transcript	synonymous_variant	synonymous_variant	1257/1391	1212/1308	404/435	I	atC/atA		1		-1	PSG6	HGNC	HGNC:9523	protein_coding	YES	CCDS12613.1	ENSP00000292125	Q00889		UPI00001327A1	NM_002782.4			5/6		PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	LOW	1	SNV	1			1											PASS	TTGGAGATTTC	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	T	2	4	30	42906950	42906950	G	T	1	0	0	0	0	0	0	0	1	12811	932	33	5		5	PSG7	19	42906950	Silent	SNP	G	TCGA-V4-A9F1-01A-11D-A39W-08	36222544	42906950	15710666	15	437											
TFDP3	51270	BI	GRCh38	chrX	133217685	133217685	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgacagttctgagccgagTtggtggtcagaccaatccac	11	11	3	3	novel		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	c.575A>G	p.Asn192Ser	p.N192S	ENST00000310125	1/1	30	17	13	53			TFDP3,missense_variant,p.N192S,ENST00000310125,NM_016521.2,c.575A>G,MODERATE,YES,tolerated(0.18),benign(0.001),-1	C	ENST00000310125	Transcript	missense_variant	missense_variant	664/1680	575/1218	192/405	N/S	aAc/aGc		1		-1	TFDP3	HGNC	HGNC:24603	protein_coding	YES	CCDS14636.2	ENSP00000385461	Q5H9I0		UPI0000212570	NM_016521.2	tolerated(0.18)	benign(0.001)	1/1		PIRSF_domain:PIRSF009404																	MODERATE	1	SNV				1											PASS	CCGAGTTGGTG	9f5f3a2c-9591-4ba1-ae55-645d1cf32f92	585f7f4d-0ef8-42d3-bd41-0b5c29c9f323	802c2b16-074b-45f1-bc42-9d167a87e32d	94f3d9b0-0ee4-4f6a-a8ff-ce7a4d8fab76			True	Unknown	C	3	2	30	133217685	133217685	T	C	1	0	0	0	0	1	0	0	0	16232	1725	60	4		4	TFDP3	23	133217685	Missense_Mutation	SNP	T	TCGA-V4-A9F1-01A-11D-A39W-08		133217685	22823210	16	438											
ITPKB	3707	BI	GRCh38	chr1	226735597	226735597	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgcgctcagggtcaCtggagatgtcctcctctgag	14	12	3	2	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.1862G>C	p.Ser621Thr	p.S621T	ENST00000272117	1/7	96	43	53	129			ITPKB,missense_variant,p.S621T,ENST00000429204,NM_002221.3,c.1862G>C,MODERATE,YES,deleterious(0),probably_damaging(0.989),-1;ITPKB,missense_variant,p.S621T,ENST00000272117,,c.1862G>C,MODERATE,,deleterious(0),probably_damaging(0.989),-1;ITPKB,missense_variant,p.S621T,ENST00000366784,,c.1862G>C,MODERATE,,deleterious(0),probably_damaging(0.989),-1	G	ENST00000272117	Transcript	missense_variant	missense_variant	1862/5822	1862/2841	621/946	S/T	aGt/aCt		1		-1	ITPKB	HGNC	HGNC:6179	protein_coding		CCDS1555.1	ENSP00000272117	P27987		UPI000013D92B		deleterious(0)	probably_damaging(0.989)	1/7		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1											PASS	GGTCACTGGAG	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			True	Unknown	G	3	3	31	226735597	226735597	C	G	1	0	0	0	0	1	0	0	0	7824	565	20	5		5	ITPKB	1	226735597	Missense_Mutation	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		226735597	22220825	1	439											
TMEM8B	51754	BI	GRCh38	chr9	35846953	35846953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattcggagtcgatatgtGctggaagctgcagtctacac	12	10	1	0	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.777G>A	p.=	p.V259V	ENST00000377988	10/13	53	48	5	89			TMEM8B,synonymous_variant,p.V259V,ENST00000377988,NM_001042590.2,c.777G>A,LOW,YES,,,1;TMEM8B,synonymous_variant,p.V259V,ENST00000377991,NM_001042589.2,c.777G>A,LOW,,,,1;TMEM8B,synonymous_variant,p.V259V,ENST00000377996,,c.777G>A,LOW,,,,1;TMEM8B,synonymous_variant,p.V259V,ENST00000439587,NM_016446.3,c.777G>A,LOW,,,,1;TMEM8B,downstream_gene_variant,,ENST00000473947,,,MODIFIER,,,,1;TMEM8B,downstream_gene_variant,,ENST00000490199,,,MODIFIER,,,,1;TMEM8B,downstream_gene_variant,,ENST00000464519,,,MODIFIER,,,,1	A	ENST00000377988	Transcript	synonymous_variant	synonymous_variant	2083/3731	777/1419	259/472	V	gtG/gtA		1		1	TMEM8B	HGNC	HGNC:21427	protein_coding	YES	CCDS43800.1	ENSP00000367227	A6NDV4		UPI00002113B9	NM_001042590.2			10/13		Pfam_domain:PF12036;Transmembrane_helices:Tmhmm																	LOW	1	SNV	1			1											PASS	TATGTGCTGGA	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			True	Unknown	A	2	1	31	35846953	35846953	G	A	1	0	0	0	0	0	0	0	1	16692	1306	46	3		3	TMEM8B	9	35846953	Silent	SNP	G	TCGA-V4-A9F2-01A-11D-A39W-08		35846953	102547764	2	440											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	53	29	24	91			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7		COSM28757	True	Unknown	A	3	1	31	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	41947619	77794572	60600145	3	441											
CREM	1390	BI	GRCh38	chr10	35211280	35211280	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgggagtgtcgcaggaAgaagaaagaatatgtcaaat	13	6	1	3	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.756-376A>G			ENST00000345491		37	34	3	60			CREM,missense_variant,p.K210R,ENST00000439705,,c.629A>G,MODERATE,,tolerated(0.31),benign(0.074),1;CREM,missense_variant,p.K231R,ENST00000374721,,c.692A>G,MODERATE,,tolerated(0.16),benign(0.107),1;CREM,missense_variant,p.K70R,ENST00000356917,NM_182720.1,c.209A>G,MODERATE,,tolerated(0.26),benign(0.074),1;CREM,missense_variant,p.K57R,ENST00000344351,,c.170A>G,MODERATE,,tolerated(0.29),probably_damaging(0.996),1;CREM,missense_variant,p.K210R,ENST00000354759,NM_183013.2,c.629A>G,MODERATE,,tolerated(0.31),benign(0.074),1;CREM,missense_variant,p.K57R,ENST00000460270,,c.170A>G,MODERATE,,tolerated(0.29),probably_damaging(0.996),1;CREM,missense_variant,p.K82R,ENST00000473940,NM_182717.1,c.245A>G,MODERATE,,tolerated(0.29),benign(0.012),1;CREM,missense_variant,p.K261R,ENST00000337656,NM_183011.1,c.782A>G,MODERATE,,tolerated(0.33),benign(0.074),1;CREM,missense_variant,p.K198R,ENST00000374734,NM_183012.1,c.593A>G,MODERATE,,tolerated(0.21),benign(0.024),1;CREM,missense_variant,p.K64R,ENST00000488741,NM_182723.1,c.191A>G,MODERATE,,tolerated(0.27),benign(0.012),1;CREM,missense_variant,p.K74R,ENST00000474931,NM_182721.1,c.221A>G,MODERATE,,tolerated(0.27),probably_damaging(0.996),1;CREM,intron_variant,,ENST00000345491,NM_181571.2,c.756-376A>G,MODIFIER,YES,,,1;CREM,intron_variant,,ENST00000361599,NM_182771.1&NM_182772.1,c.666-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000374728,NM_183060.2,c.519-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000348787,,c.519-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000342105,NM_182769.2&NM_182770.2,c.591-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000429130,,c.891-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000488328,NM_182718.1,c.183-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000474362,,c.144-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000463314,NM_001267567.1,c.270-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000479070,,c.792-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000395887,NM_001267564.1,c.702-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000484283,,c.513-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000487132,,c.519-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000468236,NM_001267570.1,c.231-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000463960,,c.435-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000490511,NM_182724.1,c.195-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000487763,NM_182719.1,c.219-376A>G,MODIFIER,,,,1;CREM,downstream_gene_variant,,ENST00000494479,,,MODIFIER,,,,1;RP11-324I22.3,downstream_gene_variant,,ENST00000602435,,,MODIFIER,YES,,,1;CREM,non_coding_transcript_exon_variant,,ENST00000469517,,n.325A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000461968,,n.645-376A>G,MODIFIER,,,,1;CREM,downstream_gene_variant,,ENST00000466251,,,MODIFIER,,,,1;CREM,3_prime_UTR_variant,,ENST00000490460,,c.*115A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000495960,,c.*584-376A>G,MODIFIER,,,,1;CREM,intron_variant,,ENST00000464475,,c.*89-376A>G,MODIFIER,,,,1	G	ENST00000345491	Transcript	intron_variant	intron_variant	-/2220	-/903	-/300				1		1	CREM	HGNC	HGNC:2352	protein_coding	YES	CCDS7180.1	ENSP00000265372	Q03060		UPI00001BDF4F	NM_181571.2				7/7																		MODIFIER	1	SNV	1			1											PASS	CAGGAAGAAGA	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			False	Unknown	G	1	3	31	35211280	35211280	A	G	0	1	0	0	0	0	0	0	0	3669	72	3	4		4	CREM	10	35211280	Intron	SNP	A	TCGA-V4-A9F2-01A-11D-A39W-08		35211280	98586142	4	442											
ARHGEF17	9828	BI	GRCh38	chr11	73310019	73310019	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagtcgacagcggaagTccctgtcaaatccagatatc	9	10	1	2	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.1381T>G	p.Ser461Ala	p.S461A	ENST00000263674	1/21	31	24	7	41			ARHGEF17,missense_variant,p.S461A,ENST00000263674,NM_014786.3,c.1381T>G,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.97),1;ARHGEF17,upstream_gene_variant,,ENST00000544519,,,MODIFIER,,,,1;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,,,MODIFIER,YES,,,-1	G	ENST00000263674	Transcript	missense_variant	missense_variant	1731/7853	1381/6192	461/2063	S/A	Tcc/Gcc		1		1	ARHGEF17	HGNC	HGNC:21726	protein_coding	YES	CCDS8221.1	ENSP00000263674	Q96PE2		UPI000004980B	NM_014786.3	deleterious_low_confidence(0.01)	probably_damaging(0.97)	1/21																			MODERATE	1	SNV	1			1											PASS	GGAAGTCCCTG	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			True	Unknown	G	3	3	31	73310019	73310019	T	G	1	0	0	0	0	1	0	0	0	1030	1667	58	5		5	ARHGEF17	11	73310019	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08		73310019	61776603	5	443											
MRPS35	60488	BI	GRCh38	chr12	27710939	27710939	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtctactcggccactccggtCccgacacctagcctgcgtga	10	17	1	1	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.96C>T	p.=	p.V32V	ENST00000081029	1/8	11	6	5	21			MRPS35,synonymous_variant,p.V32V,ENST00000081029,NM_021821.3,c.96C>T,LOW,YES,,,1;MRPS35,synonymous_variant,p.V32V,ENST00000538315,NM_001190864.1,c.96C>T,LOW,,,,1;MRPS35,synonymous_variant,p.V31V,ENST00000542791,,c.93C>T,LOW,,,,1;RP11-1060J15.7,downstream_gene_variant,,ENST00000538640,,,MODIFIER,YES,,,1;RP11-1060J15.4,upstream_gene_variant,,ENST00000536317,,,MODIFIER,YES,,,-1;RP11-1060J15.4,upstream_gene_variant,,ENST00000542660,,,MODIFIER,,,,-1;MRPS35,synonymous_variant,p.V18V,ENST00000542199,,c.53C>T,LOW,,,,1;MRPS35,synonymous_variant,p.V32V,ENST00000536569,,c.96C>T,LOW,,,,1	T	ENST00000081029	Transcript	synonymous_variant	synonymous_variant	167/1888	96/972	32/323	V	gtC/gtT		1		1	MRPS35	HGNC	HGNC:16635	protein_coding	YES	CCDS8714.1	ENSP00000081029	P82673			NM_021821.3			1/8																			LOW	1	SNV	1			1											PASS	CCGGTCCCGAC	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			True	Unknown	T	2	4	31	27710939	27710939	C	T	1	0	0	0	0	0	0	0	1	9821	842	30	3		3	MRPS35	12	27710939	Silent	SNP	C	TCGA-V4-A9F2-01A-11D-A39W-08		27710939	105564370	6	444											
KRR1	11103	BI	GRCh38	chr12	75503938	75503938	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtgggaatggcgtaTattctttcttaacagttttt	12	4	2	0	rs748720677		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.797A>G	p.Tyr266Cys	p.Y266C	ENST00000229214	7/10	114	109	5	166			KRR1,missense_variant,p.Y266C,ENST00000229214,NM_007043.6,c.797A>G,MODERATE,YES,deleterious(0),probably_damaging(1),-1;KRR1,missense_variant,p.I266V,ENST00000612627,,c.796A>G,MODERATE,,tolerated_low_confidence(0.58),unknown(0),-1;KRR1,intron_variant,,ENST00000438169,,c.660+1260A>G,MODIFIER,,,,-1;GLIPR1,downstream_gene_variant,,ENST00000266659,NM_006851.2,,MODIFIER,YES,,,1;KRR1,non_coding_transcript_exon_variant,,ENST00000551070,,n.345A>G,MODIFIER,,,,-1;GLIPR1,downstream_gene_variant,,ENST00000536703,,,MODIFIER,,,,1;KRR1,downstream_gene_variant,,ENST00000550023,,,MODIFIER,,,,-1;KRR1,downstream_gene_variant,,ENST00000550898,,,MODIFIER,,,,-1	C	ENST00000229214	Transcript	missense_variant	missense_variant	821/10118	797/1146	266/381	Y/C	tAt/tGt	rs748720677	1		-1	KRR1	HGNC	HGNC:5176	protein_coding	YES	CCDS9012.1	ENSP00000229214	Q13601		UPI00001403EE	NM_007043.6	deleterious(0)	probably_damaging(1)	7/10		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50318																	MODERATE	1	SNV	1			1	8.237e-06	8.25e-06	0	0	0	0	1.501e-05	0	0		PASS	GCGTATATTCT	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			True	Unknown	C	3	2	31	75503938	75503938	T	C	1	0	0	0	0	1	0	0	0	8328	1406	49	4		4	KRR1	12	75503938	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08	47792999	75503938	57771371	7	445											
STOML1	9399	BI	GRCh38	chr15	73984076	73984076	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgcctcggccatcTccaccaccacatcagggatg	10	16	3	0	novel		TCGA-V4-A9F2-01A-11D-A39W-08	TCGA-V4-A9F2-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c48e6101-f6ab-4e1f-ad0a-adc6ebaa340b	8f068522-7afa-46ae-9055-37e0656dacdb	c.1058A>T	p.Glu353Val	p.E353V	ENST00000541638	7/7	25	21	4	38			STOML1,missense_variant,p.E353V,ENST00000541638,NM_004809.4&NM_001256672.1,c.1058A>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.686),-1;STOML1,missense_variant,p.E310V,ENST00000316900,NM_001256677.1,c.929A>T,MODERATE,,deleterious(0.02),probably_damaging(0.938),-1;STOML1,missense_variant,p.E303V,ENST00000316911,NM_001256673.1,c.908A>T,MODERATE,,deleterious(0.01),probably_damaging(0.947),-1;STOML1,missense_variant,p.E302V,ENST00000564777,NM_001256674.1,c.905A>T,MODERATE,,deleterious(0.01),possibly_damaging(0.897),-1;STOML1,missense_variant,p.E265V,ENST00000561656,NM_001256676.1,c.794A>T,MODERATE,,deleterious(0.02),probably_damaging(0.938),-1;STOML1,missense_variant,p.E282V,ENST00000359750,NM_001256675.1,c.845A>T,MODERATE,,tolerated(0.05),probably_damaging(0.937),-1;STOML1,downstream_gene_variant,,ENST00000565240,,,MODIFIER,,,,-1;STOML1,downstream_gene_variant,,ENST00000562453,,,MODIFIER,,,,-1;STOML1,downstream_gene_variant,,ENST00000566081,,,MODIFIER,,,,-1;STOML1,non_coding_transcript_exon_variant,,ENST00000561480,,n.1448A>T,MODIFIER,,,,-1;STOML1,downstream_gene_variant,,ENST00000563229,,,MODIFIER,,,,-1;STOML1,downstream_gene_variant,,ENST00000567052,,,MODIFIER,,,,-1	A	ENST00000541638	Transcript	missense_variant	missense_variant	1183/6336	1058/1197	353/398	E/V	gAg/gTg		1		-1	STOML1	HGNC	HGNC:14560	protein_coding	YES	CCDS10254.1	ENSP00000442478	Q9UBI4			NM_004809.4;NM_001256672.1	deleterious(0.01)	possibly_damaging(0.686)	7/7		Pfam_domain:PF02036;Superfamily_domains:SSF55718																	MODERATE	1	SNV	1			1											PASS	CCATCTCCACC	f4c64ee2-5ed5-4ad5-8d43-ff1b78ff00ad	c6bed926-1efb-4c0f-8725-58d96117ef12	eb597306-e6e4-4e05-b312-7c61d172f1bd	411ddf79-fe92-44ad-8d10-eeb703f11be7			False	Unknown	A	3	1	31	73984076	73984076	T	A	1	0	0	0	0	1	0	0	0	15692	1551	54	5		5	STOML1	15	73984076	Missense_Mutation	SNP	T	TCGA-V4-A9F2-01A-11D-A39W-08		73984076	28007113	8	446											
IGSF9	57549	BI	GRCh38	chr1	159931508	159931508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacagcattgctggcactGcattcccagtgcccgtgggc	12	15	0	0	novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.1458C>T	p.=	p.C486C	ENST00000368094	12/21	42	38	4	37			IGSF9,synonymous_variant,p.C486C,ENST00000368094,NM_001135050.1,c.1458C>T,LOW,YES,,,-1;IGSF9,synonymous_variant,p.C470C,ENST00000361509,NM_020789.3,c.1410C>T,LOW,,,,-1;IGSF9,intron_variant,,ENST00000611023,,c.1345+321C>T,MODIFIER,,,,-1;IGSF9,non_coding_transcript_exon_variant,,ENST00000476102,,n.1653C>T,MODIFIER,,,,-1;IGSF9,non_coding_transcript_exon_variant,,ENST00000496645,,n.962C>T,MODIFIER,,,,-1;IGSF9,intron_variant,,ENST00000493195,,n.1541-247C>T,MODIFIER,,,,-1	A	ENST00000368094	Transcript	synonymous_variant	synonymous_variant	1656/4044	1458/3540	486/1179	C	tgC/tgT		1		-1	IGSF9	HGNC	HGNC:18132	protein_coding	YES	CCDS44254.1	ENSP00000357073	Q9P2J2		UPI000004A10B	NM_001135050.1			12/21		Pfam_domain:PF07679;Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	LOW	1	SNV	1			1											PASS	GCACTGCATTC	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	A	2	1	32	159931508	159931508	G	A	1	0	0	0	0	0	0	0	1	7513	1311	46	3		3	IGSF9	1	159931508	Silent	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		159931508	89024914	1	447											
PDGFRA	5156	BI	GRCh38	chr4	54287442	54287442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcagacctttctgcccGtgaagtggatggctcctgag	12	12	1	3	novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.2575G>A	p.Val859Met	p.V859M	ENST00000257290	19/23	112	85	27	117			PDGFRA,missense_variant,p.V859M,ENST00000257290,NM_006206.4,c.2575G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.998),1;FIP1L1,missense_variant,p.V619M,ENST00000507166,,c.1855G>A,MODERATE,,deleterious_low_confidence(0),unknown(0),1	A	ENST00000257290	Transcript	missense_variant	missense_variant	2906/6576	2575/3270	859/1089	V/M	Gtg/Atg		1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4	deleterious(0.02)	probably_damaging(0.998)	19/23		Pfam_domain:PF07714;Pfam_domain:PF00069;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112;PIRSF_domain:PIRSF000615																	MODERATE	1	SNV	1			1											PASS	TGCCCGTGAAG	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	A	3	1	32	54287442	54287442	G	A	1	0	0	0	0	1	0	0	0	11749	1145	40	1		1	PDGFRA	4	54287442	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		54287442	135927113	2	448											
FLNC	2318	BI	GRCh38	chr7	128846424	128846424	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgggccaggcctggagggtgGcttggtcaacaaggccaacc	16	12	1	0	rs750856173		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.4088G>C	p.Gly1363Ala	p.G1363A	ENST00000325888	23/48	57	40	17	69			FLNC,missense_variant,p.G1363A,ENST00000325888,NM_001458.4,c.4088G>C,MODERATE,YES,tolerated(0.27),probably_damaging(1),1;FLNC,missense_variant,p.G1363A,ENST00000346177,NM_001127487.1,c.4088G>C,MODERATE,,tolerated(0.28),probably_damaging(0.999),1;RP11-309L24.2,downstream_gene_variant,,ENST00000469965,,,MODIFIER,YES,,,-1;FLNC,downstream_gene_variant,,ENST00000388853,,,MODIFIER,,,,1	C	ENST00000325888	Transcript	missense_variant	missense_variant	4349/9188	4088/8178	1363/2725	G/A	gGc/gCc	rs750856173	1		1	FLNC	HGNC	HGNC:3756	protein_coding	YES	CCDS43644.1	ENSP00000327145	Q14315		UPI000006DE6D	NM_001458.4	tolerated(0.27)	probably_damaging(1)	23/48		Pfam_domain:PF00630;PROSITE_profiles:PS50194;SMART_domains:SM00557;Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1											PASS	GGGTGGCTTGG	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	C	3	2	32	128846424	128846424	G	C	1	0	0	0	0	1	0	0	0	5791	1203	42	5		5	FLNC	7	128846424	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		128846424	30499549	3	449											
PCGF6	84108	BI	GRCh38	chr10	103314225	103314226	+	Frame_Shift_Ins	INS	-	-	A													ttgcacgtcggatttcccttINSagagtttgatactgctccaa					novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.956dupT	p.Arg320LysfsTer9	p.R320Kfs*9	ENST00000369847	9/10	108	75	33	89			PCGF6,frameshift_variant,p.R320Kfs*9,ENST00000369847,NM_001011663.1,c.956dupT,HIGH,YES,,,-1;PCGF6,frameshift_variant,p.R245Kfs*9,ENST00000337211,NM_032154.3,c.731dupT,HIGH,,,,-1;RNU11-3P,upstream_gene_variant,,ENST00000391111,,,MODIFIER,YES,,,-1;PCGF6,non_coding_transcript_exon_variant,,ENST00000490296,,n.993dupT,MODIFIER,,,,-1	A	ENST00000369847	Transcript	frameshift_variant	frameshift_variant	1024-1025/2230	956-957/1053	319/350	L/LX	cta/ctTa		1		-1	PCGF6	HGNC	HGNC:21156	protein_coding	YES	CCDS31275.1	ENSP00000358862	Q9BYE7		UPI00001F9669	NM_001011663.1			9/10		Superfamily_domains:SSF54236																	HIGH	1	insertion	1			1											PASS	TCCCTTAGAGT	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	A	7	5	32	103314225	103314225	-	A	1	0	1	1	0	0	0	0	0	11666	1741	61	0		0	PCGF6	10	103314225	Frame_Shift_Ins	INS	-	TCGA-V4-A9F3-01A-11D-A39W-08		103314225	30483197	4	450											
CTTN	2017	BI	GRCh38	chr11	70435153	70435153	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagccaactatgtggagctGcggcagtagggcccccagcc	13	15	0	0	novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.1644G>T	p.=	p.L548L	ENST00000301843	18/18	23	20	3	25			CTTN,synonymous_variant,p.L548L,ENST00000301843,NM_005231.3,c.1644G>T,LOW,,,,1;CTTN,synonymous_variant,p.L511L,ENST00000346329,NM_138565.2,c.1533G>T,LOW,,,,1;CTTN,intron_variant,,ENST00000376561,NM_001184740.1,c.1499+34G>T,MODIFIER,YES,,,1;CTTN,intron_variant,,ENST00000529736,,c.581+34G>T,MODIFIER,,,,1;CTTN,intron_variant,,ENST00000393747,,n.799+34G>T,MODIFIER,,,,1;CTTN,downstream_gene_variant,,ENST00000533931,,,MODIFIER,,,,1	T	ENST00000301843	Transcript	synonymous_variant	synonymous_variant	1850/3272	1644/1653	548/550	L	ctG/ctT		1		1	CTTN	HGNC	HGNC:3338	protein_coding		CCDS41680.1	ENSP00000301843	Q14247			NM_005231.3			18/18		Prints_domain:PR00452;PROSITE_profiles:PS50002;SMART_domains:SM00326;Superfamily_domains:SSF50044																	LOW		SNV	1			1											PASS	GAGCTGCGGCA	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			False	Unknown	T	2	4	32	70435153	70435153	G	T	1	0	0	0	0	0	0	0	1	3853	1306	46	5		5	CTTN	11	70435153	Silent	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		70435153	64651469	5	451											
RAB38	23682	BI	GRCh38	chr11	88149824	88149824	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgccattagggagacttaActtggagtccaaatcatttt	8	7	1	1	novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.334T>G	p.Leu112Val	p.L112V	ENST00000243662	2/3	133	90	43	130			RAB38,missense_variant,p.L112V,ENST00000243662,NM_022337.2,c.334T>G,MODERATE,YES,tolerated(1),benign(0.015),-1;RAB38,missense_variant,p.L111V,ENST00000526372,,c.329T>G,MODERATE,,tolerated(1),benign(0.013),-1;RAB38,intron_variant,,ENST00000531138,,c.251+25359T>G,MODIFIER,,,,-1	C	ENST00000243662	Transcript	missense_variant	missense_variant	417/1465	334/636	112/211	L/V	Tta/Gta		1		-1	RAB38	HGNC	HGNC:9776	protein_coding	YES	CCDS8281.1	ENSP00000243662	P57729	A0A024R191	UPI000003F780	NM_022337.2	tolerated(1)	benign(0.015)	2/3		Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;SMART_domains:SM00176;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACTTAACTTGG	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	C	3	2	32	88149824	88149824	A	C	1	0	0	0	0	1	0	0	0	13087	40	2	5		5	RAB38	11	88149824	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08	17714671	88149824	46936798	6	452											
ZNF555	148254	BI	GRCh38	chr19	2852697	2852697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaaacctttcctcGtacttcctccctcaatcggc	7	14	1	0	rs764653741		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.632G>A	p.Arg211His	p.R211H	ENST00000334241	4/4	77	50	27	83			ZNF555,missense_variant,p.R211H,ENST00000334241,NM_152791.4,c.632G>A,MODERATE,YES,tolerated(0.54),possibly_damaging(0.83),1;ZNF555,missense_variant,p.R210H,ENST00000591539,NM_001172775.1,c.629G>A,MODERATE,,tolerated(0.54),benign(0.015),1;ZNF555,downstream_gene_variant,,ENST00000585966,,,MODIFIER,,,,1;AC006130.3,intron_variant,,ENST00000589365,,n.398-5313C>T,MODIFIER,YES,,,-1	A	ENST00000334241	Transcript	missense_variant	missense_variant	770/8557	632/1887	211/628	R/H	cGt/cAt	rs764653741	1		1	ZNF555	HGNC	HGNC:28382	protein_coding	YES	CCDS12096.1	ENSP00000334853	Q8NEP9		UPI0000203006	NM_152791.4	tolerated(0.54)	possibly_damaging(0.83)	4/4		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1	8.236e-06	8.238e-06	0	0	0	0	1.498e-05	0	0		PASS	TCCTCGTACTT	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b		COSM2749722	True	Unknown	A	3	1	32	2852697	2852697	G	A	1	0	0	0	0	1	0	0	0	18560	1145	40	1		1	ZNF555	19	2852697	Missense_Mutation	SNP	G	TCGA-V4-A9F3-01A-11D-A39W-08		2852697	55764919	7	453											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	60	37	23	55			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b		COSM52969	True	Unknown	T	3	4	32	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9F3-01A-11D-A39W-08	266247	3118944	55498672	8	454											
BPI	671	BI	GRCh38	chr20	38326345	38326345	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtctgtgcagcccacCggccttaccttctaccctgc	7	19	2	0	novel		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	c.1086C>G	p.=	p.T362T	ENST00000262865	10/15	18	10	8	32			BPI,synonymous_variant,p.T362T,ENST00000262865,NM_001725.2,c.1086C>G,LOW,YES,,,1;BPI,synonymous_variant,p.T161T,ENST00000417318,,c.483C>G,LOW,,,,1;CTD-2308N23.2,intron_variant,,ENST00000437016,,n.183+9G>C,MODIFIER,YES,,,-1;BPI,downstream_gene_variant,,ENST00000489039,,,MODIFIER,,,,1;BPI,3_prime_UTR_variant,,ENST00000489102,,c.*263C>G,MODIFIER,,,,1	G	ENST00000262865	Transcript	synonymous_variant	synonymous_variant	1175/1874	1086/1464	362/487	T	acC/acG		1		1	BPI	HGNC	HGNC:1095	protein_coding	YES	CCDS13303.1	ENSP00000262865	P17213		UPI000013D349	NM_001725.2			10/15		Pfam_domain:PF02886;SMART_domains:SM00329;Superfamily_domains:SSF55394																	LOW	1	SNV	1			1											PASS	CCCACCGGCCT	dc1e5e82-2285-4123-bc91-edbf4cf81f9c	475f84ad-2584-450f-92d1-e10309d8073e	7dc6be0f-2975-4e19-8a85-0592c36a5e03	e21d8018-8fe9-4c92-8b36-28d7d3f7df2b			True	Unknown	G	2	3	32	38326345	38326345	C	G	1	0	0	0	0	0	0	0	1	1653	639	23	5		5	BPI	20	38326345	Silent	SNP	C	TCGA-V4-A9F3-01A-11D-A39W-08		38326345	26117822	9	455											
EYA3	2140	BI	GRCh38	chr1	28013260	28013260	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggggtagcaggcctggtacTgattctgaccaagaatagta	13	7	1	3	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.620A>G	p.Gln207Arg	p.Q207R	ENST00000373871	9/18	88	48	40	81			EYA3,missense_variant,p.Q207R,ENST00000373871,NM_001990.3,c.620A>G,MODERATE,YES,deleterious(0),probably_damaging(0.924),-1;EYA3,missense_variant,p.Q154R,ENST00000436342,NM_001282562.1,c.461A>G,MODERATE,,deleterious(0),probably_damaging(0.924),-1;EYA3,missense_variant,p.Q161R,ENST00000540618,NM_001282561.1,c.482A>G,MODERATE,,deleterious(0),possibly_damaging(0.899),-1;EYA3,missense_variant,p.Q51R,ENST00000373864,,c.152A>G,MODERATE,,deleterious(0),probably_damaging(0.951),-1;EYA3,missense_variant,p.Q161R,ENST00000373863,NM_001282560.1,c.482A>G,MODERATE,,deleterious(0),probably_damaging(0.99),-1;EYA3,non_coding_transcript_exon_variant,,ENST00000471498,,n.762A>G,MODIFIER,,,,-1;EYA3,non_coding_transcript_exon_variant,,ENST00000468665,,n.257A>G,MODIFIER,,,,-1;EYA3,upstream_gene_variant,,ENST00000495923,,,MODIFIER,,,,-1	C	ENST00000373871	Transcript	missense_variant	missense_variant	861/6085	620/1722	207/573	Q/R	cAg/cGg		1		-1	EYA3	HGNC	HGNC:3521	protein_coding	YES	CCDS316.1	ENSP00000362978	Q99504		UPI000015FFE5	NM_001990.3	deleterious(0)	probably_damaging(0.924)	9/18																			MODERATE	1	SNV	1			1											PASS	GGTACTGATTC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	C	3	2	33	28013260	28013260	T	C	1	0	0	0	0	1	0	0	0	5198	1580	55	4		4	EYA3	1	28013260	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		28013260	220943162	1	456											
C2orf71	388939	BI	GRCh38	chr2	29074177	29074177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccgccctgacatcctggccGaattgctttgggctttttca	9	13	1	1	rs201706430	by1000G;byCluster	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.85C>T	p.Arg29Trp	p.R29W	ENST00000331664	1/2	96	76	20	82			C2orf71,missense_variant,p.R29W,ENST00000331664,NM_001029883.2,c.85C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.784),-1	A	ENST00000331664	Transcript	missense_variant	missense_variant	85/7044	85/3867	29/1288	R/W	Cgg/Tgg	rs201706430	1		-1	C2orf71	HGNC	HGNC:34383	protein_coding	YES	CCDS42669.1	ENSP00000332809	A6NGG8		UPI0000251DD8	NM_001029883.2	deleterious(0)	possibly_damaging(0.784)	1/2			2e-04	0	0		0.001	0	0										MODERATE	1	SNV	2			1	0.0002647	0.0002693	0	0	0.003598	0	0	0	6.644e-05		panel_of_normals	TGGCCGAATTG	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d	common_in_exac;gdc_pon	COSM2941384	True	Unknown	A	3	1	33	29074177	29074177	G	A	1	0	0	0	0	1	0	0	0	2045	1057	37	2		2	C2orf71	2	29074177	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		29074177	213119352	2	457											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	50	29	21	61			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d		COSM255276	True	Unknown	T	3	4	33	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	168328582	197402759	44790770	3	458											
CNTN3	5067	BI	GRCh38	chr3	74486471	74486471	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggcaaactgaagttTggcttctctgctgacaattg	9	9	1	2	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.343A>C	p.Lys115Gln	p.K115Q	ENST00000263665	3/22	49	37	12	45			CNTN3,missense_variant,p.K115Q,ENST00000263665,NM_020872.1,c.343A>C,MODERATE,YES,tolerated(0.1),benign(0.244),-1	G	ENST00000263665	Transcript	missense_variant	missense_variant	371/4948	343/3087	115/1028	K/Q	Aaa/Caa		1		-1	CNTN3	HGNC	HGNC:2173	protein_coding	YES	CCDS33790.1	ENSP00000263665	Q9P232		UPI00001A7974	NM_020872.1	tolerated(0.1)	benign(0.244)	3/22		Pfam_domain:PF07679;PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	AAGTTTGGCTT	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	G	3	3	33	74486471	74486471	T	G	1	0	0	0	0	1	0	0	0	3423	1821	63	5		5	CNTN3	3	74486471	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		74486471	123809088	4	459											
EVC	2121	BI	GRCh38	chr4	5733410	5733410	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctgctgcatttggacaCggcactgaggcaggaaaagc	13	10	0	2	rs201583621	by1000G;byCluster	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.677C>T	p.Thr226Met	p.T226M	ENST00000264956	5/21	304	258	46	336			EVC,missense_variant,p.T226M,ENST00000264956,NM_153717.2,c.677C>T,MODERATE,YES,deleterious(0.04),benign(0.075),1;EVC,missense_variant,p.T226M,ENST00000509451,,c.677C>T,MODERATE,,tolerated(0.05),benign(0.112),1	T	ENST00000264956	Transcript	missense_variant	missense_variant	861/6431	677/2979	226/992	T/M	aCg/aTg	rs201583621	1		1	EVC	HGNC	HGNC:3497	protein_coding	YES	CCDS3383.1	ENSP00000264956	P57679		UPI000012A2A5	NM_153717.2	deleterious(0.04)	benign(0.075)	5/21			2e-04	0	0		0	0	0.001	0	2e-04								MODERATE	1	SNV	1			1	8.236e-05	8.236e-05	0.0001922	0	0	0	2.997e-05	0	0.0003634		PASS	GGACACGGCAC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d		COSM1056294	True	Unknown	T	3	4	33	5733410	5733410	C	T	1	0	0	0	0	1	0	0	0	5152	536	19	1		1	EVC	4	5733410	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		5733410	184481145	5	460											
SH3TC2	79628	BI	GRCh38	chr5	149041444	149041444	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agggagaggcagaggctccaAggctgacaccagtaccaggc	15	11	0	3	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.703T>C	p.=	p.L235L	ENST00000515425	6/17	29	25	4	35			SH3TC2,synonymous_variant,p.L235L,ENST00000515425,NM_024577.3,c.703T>C,LOW,YES,,,-1;SH3TC2,synonymous_variant,p.L228L,ENST00000512049,,c.682T>C,LOW,,,,-1;SH3TC2,intron_variant,,ENST00000503071,,n.198+30T>C,MODIFIER,,,,-1;SH3TC2,synonymous_variant,p.L235L,ENST00000504690,,c.703T>C,LOW,,,,-1;SH3TC2,synonymous_variant,p.L35L,ENST00000504517,,c.103T>C,LOW,,,,-1;SH3TC2,3_prime_UTR_variant,,ENST00000511307,,c.*483T>C,MODIFIER,,,,-1;SH3TC2,intron_variant,,ENST00000323829,,c.673+30T>C,MODIFIER,,,,-1;SH3TC2,intron_variant,,ENST00000513604,,c.673+30T>C,MODIFIER,,,,-1;SH3TC2,downstream_gene_variant,,ENST00000504091,,,MODIFIER,,,,-1;SH3TC2,downstream_gene_variant,,ENST00000511949,,,MODIFIER,,,,-1	G	ENST00000515425	Transcript	synonymous_variant	synonymous_variant	805/4059	703/3867	235/1288	L	Ttg/Ctg		1		-1	SH3TC2	HGNC	HGNC:29427	protein_coding	YES	CCDS4293.1	ENSP00000423660	Q8TF17		UPI00001DFBEE	NM_024577.3			6/17		Superfamily_domains:SSF50044																	LOW	1	SNV	1			1											PASS	CTCCAAGGCTG	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			False	Unknown	G	2	3	33	149041444	149041444	A	G	1	0	0	0	0	0	0	0	1	14521	69	3	4		4	SH3TC2	5	149041444	Silent	SNP	A	TCGA-V4-A9F4-01A-11D-A39W-08		149041444	32496815	6	461											
SLIT3	6586	BI	GRCh38	chr5	168748307	168748307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggggtacttacagctcGgtcacatccttgggcatgcc	13	12	1	0	rs116182795	by1000G;byCluster	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.2265C>T	p.=	p.T755T	ENST00000519560	20/36	112	88	24	109			SLIT3,synonymous_variant,p.T755T,ENST00000519560,NM_003062.3,c.2265C>T,LOW,,,,-1;SLIT3,synonymous_variant,p.T618T,ENST00000404867,,c.1854C>T,LOW,,,,-1;SLIT3,synonymous_variant,p.T755T,ENST00000332966,NM_001271946.1,c.2265C>T,LOW,YES,,,-1;SLIT3,downstream_gene_variant,,ENST00000519486,,,MODIFIER,,,,-1	A	ENST00000519560	Transcript	synonymous_variant	synonymous_variant	2685/9706	2265/4572	755/1523	T	acC/acT	rs116182795	1		-1	SLIT3	HGNC	HGNC:11087	protein_coding		CCDS4369.1	ENSP00000430333	O75094		UPI00001B0229	NM_003062.3			20/36		SMART_domains:SM00013;SMART_domains:SM00364;Superfamily_domains:SSF52058		8e-04	0		0	0	0	0.0027	0								LOW		SNV	1			1	0.0002473	0.0002671	0.002848	0	0	0	1.558e-05	0	0		panel_of_normals	AGCTCGGTCAC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d	common_in_exac;gdc_pon		True	Unknown	A	2	1	33	168748307	168748307	G	A	1	0	0	0	0	0	0	0	1	15032	1130	39	2		2	SLIT3	5	168748307	Silent	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	19706863	168748307	12789952	7	462											
DPCR1	135656	BI	GRCh38	chr6	30952222	30952222	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	caaggtcacaggagacaaatCtctcactactacctcttctc	5	14	5	1	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1130C>G	p.Ser377Cys	p.S377C	ENST00000304311	3/4	144	109	35	73			DPCR1,missense_variant,p.S1253C,ENST00000462446,NM_080870.3,c.3758C>G,MODERATE,YES,deleterious(0),probably_damaging(0.983),1;DPCR1,missense_variant,p.S377C,ENST00000304311,,c.1130C>G,MODERATE,,deleterious(0.01),probably_damaging(0.994),1;HCG21,intron_variant,,ENST00000419481,,n.224+845G>C,MODIFIER,YES,,,-1	G	ENST00000304311	Transcript	missense_variant	missense_variant	1130/2658	1130/1554	377/517	S/C	tCt/tGt		1		1	DPCR1	HGNC	HGNC:21666	protein_coding			ENSP00000305948	Q3MIW9		UPI0001642865		deleterious(0.01)	probably_damaging(0.994)	3/4		PROSITE_profiles:PS50325																	MODERATE		SNV	5			1											PASS	CAAATCTCTCA	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	G	3	3	33	30952222	30952222	C	G	1	0	0	0	0	1	0	0	0	4526	913	32	5		5	DPCR1	6	30952222	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		30952222	139853757	8	463			1	1		2	2	104	C		5.669682e-05
DPCR1	135656	BI	GRCh38	chr6	30952325	30952325	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaacgaagctgagttctatCacatcagaagccacaggaaa	9	9	3	3	rs751853704	byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1233C>G	p.Ile411Met	p.I411M	ENST00000304311	3/4	190	132	58	81			DPCR1,missense_variant,p.I1287M,ENST00000462446,NM_080870.3,c.3861C>G,MODERATE,YES,tolerated(0.17),benign(0.368),1;DPCR1,missense_variant,p.I411M,ENST00000304311,,c.1233C>G,MODERATE,,tolerated(0.1),benign(0.158),1;HCG21,intron_variant,,ENST00000419481,,n.224+742G>C,MODIFIER,YES,,,-1	G	ENST00000304311	Transcript	missense_variant	missense_variant	1233/2658	1233/1554	411/517	I/M	atC/atG	rs751853704	1		1	DPCR1	HGNC	HGNC:21666	protein_coding			ENSP00000305948	Q3MIW9		UPI0001642865		tolerated(0.1)	benign(0.158)	3/4		PROSITE_profiles:PS50325																	MODERATE		SNV	5			1	1.647e-05	1.652e-05	0	0	0	0	3.004e-05	0	0		PASS	TCTATCACATC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	G	3	3	33	30952325	30952325	C	G	1	0	0	0	0	1	0	0	0	4526	816	29	5		5	DPCR1	6	30952325	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08	103	30952325	139853654	9	464			1	1		2	2	104	C		5.669682e-05
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	88	49	39	82			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d		COSM28758	True	Unknown	G	3	3	33	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		77794572	60600145	10	465											
ZNF195	7748	BI	GRCh38	chr11	3359432	3359432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaaagttttttccacattCgtcacatttgtagggcttct	8	8	2	0	rs376637698		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1576G>A	p.Glu526Lys	p.E526K	ENST00000399602	6/6	99	57	42	163			ZNF195,missense_variant,p.E530K,ENST00000620374,,c.1588G>A,MODERATE,,tolerated(0.05),probably_damaging(0.946),-1;ZNF195,missense_variant,p.E458K,ENST00000343338,NM_001256825.1&NM_001242843.1,c.1372G>A,MODERATE,,deleterious(0.04),probably_damaging(0.946),-1;ZNF195,missense_variant,p.E454K,ENST00000354599,NM_007152.4,c.1360G>A,MODERATE,,deleterious(0.04),benign(0.408),-1;ZNF195,missense_variant,p.E458K,ENST00000429541,,c.1372G>A,MODERATE,,deleterious(0.04),probably_damaging(0.946),-1;ZNF195,missense_variant,p.E526K,ENST00000399602,NM_001130520.2,c.1576G>A,MODERATE,YES,tolerated(0.05),probably_damaging(0.968),-1;ZNF195,missense_variant,p.E503K,ENST00000005082,NM_001130519.2,c.1507G>A,MODERATE,,deleterious(0.03),probably_damaging(0.964),-1;ZNF195,missense_variant,p.E507K,ENST00000526601,NM_001256824.1&NM_001242841.1,c.1519G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.613),-1;ZNF195,intron_variant,,ENST00000528796,,c.226+11543G>A,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000438262,NM_001256823.1,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000528410,NM_001242842.1,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000533036,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000534569,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000529678,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000427810,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000618467,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000528636,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000524857,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000330692,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000528218,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000525313,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000526540,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000526598,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000530643,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000529789,,,MODIFIER,,,,-1;ZNF195,downstream_gene_variant,,ENST00000529228,,,MODIFIER,,,,-1	T	ENST00000399602	Transcript	missense_variant	missense_variant	1703/2369	1576/1890	526/629	E/K	Gaa/Aaa	rs376637698	1		-1	ZNF195	HGNC	HGNC:12986	protein_coding	YES	CCDS44522.1	ENSP00000382511	O14628		UPI0000D6258D	NM_001130520.2	tolerated(0.05)	probably_damaging(0.968)	6/6		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	ACATTCGTCAC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	T	3	4	33	3359432	3359432	C	T	1	0	0	0	0	1	0	0	0	18335	893	31	2		2	ZNF195	11	3359432	Missense_Mutation	SNP	C	TCGA-V4-A9F4-01A-11D-A39W-08		3359432	131727190	11	466											
USP35	57558	BI	GRCh38	chr11	78200220	78200220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaccttccagcactcccacGaagccttccacctggtaagg	8	16	0	1			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1024G>A	p.Glu342Lys	p.E342K	ENST00000529308	5/11	37	30	7	35			USP35,missense_variant,p.E342K,ENST00000529308,NM_020798.2,c.1024G>A,MODERATE,YES,deleterious(0),unknown(0),1;USP35,missense_variant,p.E73K,ENST00000526425,,c.217G>A,MODERATE,,deleterious(0.01),unknown(0),1;USP35,missense_variant,p.E98K,ENST00000528910,,c.292G>A,MODERATE,,deleterious(0.01),unknown(0),1;USP35,intron_variant,,ENST00000530267,,c.-99-5622G>A,MODIFIER,,,,1;USP35,intron_variant,,ENST00000530535,,n.336-9228G>A,MODIFIER,,,,1;USP35,3_prime_UTR_variant,,ENST00000530546,,c.*18G>A,MODIFIER,,,,1	A	ENST00000529308	Transcript	missense_variant	missense_variant	1285/4216	1024/3057	342/1018	E/K	Gaa/Aaa		1		1	USP35	HGNC	HGNC:20061	protein_coding	YES	CCDS41693.1	ENSP00000431876	Q9P2H5		UPI0000456553	NM_020798.2	deleterious(0)	unknown(0)	5/11		Superfamily_domains:SSF48371																	MODERATE	1	SNV	5			1											PASS	CCCACGAAGCC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d		COSM932254;COSM932255	True	Unknown	A	3	1	33	78200220	78200220	G	A	1	0	0	0	0	1	0	0	0	17608	1059	37	2		2	USP35	11	78200220	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	74840788	78200220	56886402	12	467											
FANCM	57697	BI	GRCh38	chr14	45198808	45198808	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaatgttggtattcatGttccaacagtggtgaatagt	11	4	1	2	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.5881G>T	p.Val1961Phe	p.V1961F	ENST00000267430	22/23	53	35	18	52			FANCM,missense_variant,p.V1961F,ENST00000267430,NM_020937.2,c.5881G>T,MODERATE,YES,deleterious(0.01),benign(0.079),1;FANCM,missense_variant,p.V1935F,ENST00000542564,,c.5803G>T,MODERATE,,deleterious(0.01),benign(0.059),1;FANCM,missense_variant,p.V1477F,ENST00000556250,,c.4429G>T,MODERATE,,deleterious(0.02),benign(0.04),1;FANCM,missense_variant,p.V929F,ENST00000554809,,c.2783G>T,MODERATE,,deleterious(0.02),benign(0.164),1;FANCM,missense_variant,p.V87F,ENST00000555484,,c.259G>T,MODERATE,,deleterious(0.02),benign(0.02),1;MIS18BP1,downstream_gene_variant,,ENST00000310806,NM_018353.4,,MODIFIER,YES,,,-1;FANCM,3_prime_UTR_variant,,ENST00000557110,,c.*45G>T,MODIFIER,,,,1;FANCM,non_coding_transcript_exon_variant,,ENST00000553551,,n.374G>T,MODIFIER,,,,1	T	ENST00000267430	Transcript	missense_variant	missense_variant	5966/7111	5881/6147	1961/2048	V/F	Gtt/Ttt		1		1	FANCM	HGNC	HGNC:23168	protein_coding	YES	CCDS32070.1	ENSP00000267430	Q8IYD8		UPI000059F032	NM_020937.2	deleterious(0.01)	benign(0.079)	22/23		Superfamily_domains:SSF47781																	MODERATE	1	SNV	1			1											PASS	TTCATGTTCCA	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	T	3	4	33	45198808	45198808	G	T	1	0	0	0	0	1	0	0	0	5531	1377	48	5		5	FANCM	14	45198808	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		45198808	61844910	13	468											
NEDD4	4734	BI	GRCh38	chr15	55916705	55916705	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttgaacaacgttagacgTtgaaatccgtgttggtcttt	9	7	1	3	rs148700559	byCluster	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.127A>G	p.Thr43Ala	p.T43A	ENST00000508342	1/25	130	107	23	137			NEDD4,missense_variant,p.T43A,ENST00000508342,NM_001284338.1,c.127A>G,MODERATE,YES,tolerated_low_confidence(1),benign(0),-1;NEDD4,missense_variant,p.T43A,ENST00000338963,NM_198400.3,c.127A>G,MODERATE,,tolerated_low_confidence(1),benign(0.001),-1;NEDD4,missense_variant,p.T43A,ENST00000506154,NM_001284339.1,c.127A>G,MODERATE,,tolerated_low_confidence(1),benign(0),-1;NEDD4,intron_variant,,ENST00000435532,NM_006154.3,c.291+7941A>G,MODIFIER,,,,-1;NEDD4,upstream_gene_variant,,ENST00000508871,NM_001284340.1,,MODIFIER,,,,-1;NEDD4,intron_variant,,ENST00000514893,,n.264+7941A>G,MODIFIER,,,,-1;NEDD4,intron_variant,,ENST00000502612,,c.*86+7941A>G,MODIFIER,,,,-1;NEDD4,intron_variant,,ENST00000507063,,c.79+7941A>G,MODIFIER,,,,-1;NEDD4,upstream_gene_variant,,ENST00000503468,,,MODIFIER,,,,-1	C	ENST00000508342	Transcript	missense_variant	missense_variant	427/7235	127/3960	43/1319	T/A	Acg/Gcg	rs148700559	1		-1	NEDD4	HGNC	HGNC:7727	protein_coding	YES	CCDS61644.1	ENSP00000424827	P46934		UPI00001FE52D	NM_001284338.1	tolerated_low_confidence(1)	benign(0)	1/25										0	1e-04								MODERATE	1	SNV	1			1	5.765e-05	5.767e-05	9.612e-05	0	0	0	4.496e-05	0	0.0001817		PASS	AGACGTTGAAA	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			True	Unknown	C	3	2	33	55916705	55916705	T	C	1	0	0	0	0	1	0	0	0	10338	1725	60	4		4	NEDD4	15	55916705	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		55916705	46074484	14	469											
KRT31	3881	BI	GRCh38	chr17	41394146	41394146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgctgcacgcgttggtcGtggcacagggattgctgggc	17	10	0	0	rs111342287	by1000G;byCluster;byFrequency	TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.1121C>T	p.Thr374Met	p.T374M	ENST00000251645	7/7	67	48	19	62			KRT31,missense_variant,p.T374M,ENST00000251645,NM_002277.2,c.1121C>T,MODERATE,YES,deleterious(0.03),possibly_damaging(0.576),-1;KRT33B,intron_variant,,ENST00000620421,,c.-11+3413C>T,MODIFIER,,,,-1	A	ENST00000251645	Transcript	missense_variant	missense_variant	1174/1596	1121/1251	374/416	T/M	aCg/aTg	rs111342287	1		-1	KRT31	HGNC	HGNC:6448	protein_coding	YES	CCDS11391.1	ENSP00000251645	Q15323		UPI000006F564	NM_002277.2	deleterious(0.03)	possibly_damaging(0.576)	7/7			8e-04	0.0015	0		0.002	0	0	0.003	1e-04								MODERATE	1	SNV	1			1	0.0005271	0.0005273	0.002403	8.643e-05	0.0002311	0	0.0001948	0	0.001393		panel_of_normals	TGGTCGTGGCA	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d	common_in_exac;gdc_pon	COSM1256092;COSM1256093	True	Unknown	A	3	1	33	41394146	41394146	G	A	1	0	0	0	0	1	0	0	0	8349	1145	40	1		1	KRT31	17	41394146	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08		41394146	41863295	15	470											
KRT16	3868	BI	GRCh38	chr17	41611446	41611446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatccaacacccggcGcaggccattgacgtcggcct	10	17	1	1			TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.670C>T	p.Arg224Cys	p.R224C	ENST00000301653	3/8	87	81	6	97			KRT16,missense_variant,p.R224C,ENST00000301653,NM_005557.3,c.670C>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.479),-1;KRT16,5_prime_UTR_variant,,ENST00000593067,,c.-45C>T,MODIFIER,,,,-1;KRT16,downstream_gene_variant,,ENST00000590990,,,MODIFIER,,,,-1;KRT16,downstream_gene_variant,,ENST00000588319,,,MODIFIER,,,,-1	A	ENST00000301653	Transcript	missense_variant	missense_variant	735/1644	670/1422	224/473	R/C	Cgc/Tgc		1		-1	KRT16	HGNC	HGNC:6423	protein_coding	YES	CCDS11401.1	ENSP00000301653	P08779		UPI0000001C7B	NM_005557.3	tolerated(0.06)	possibly_damaging(0.479)	3/8		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00038;Prints_domain:PR01248																	MODERATE	1	SNV	1			1											PASS	CCGGCGCAGGC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d		COSM3517497	True	Unknown	A	3	1	33	41611446	41611446	G	A	1	0	0	0	0	1	0	0	0	8335	1087	38	2		2	KRT16	17	41611446	Missense_Mutation	SNP	G	TCGA-V4-A9F4-01A-11D-A39W-08	217300	41611446	41645995	16	471											
PDE4C	5143	BI	GRCh38	chr19	18211052	18211052	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttccccctcctcttcTtcctcctcatcctcttcctc	1	22	5	0	novel		TCGA-V4-A9F4-01A-11D-A39W-08	TCGA-V4-A9F4-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bc39a132-88f1-40d6-8931-c80d6b6e4135	4fdb815c-0d5d-47c5-ad0f-ea9309587d66	c.2016A>T	p.Glu672Asp	p.E672D	ENST00000355502	19/19	38	34	4	39			PDE4C,missense_variant,p.E672D,ENST00000355502,,c.2016A>T,MODERATE,YES,tolerated_low_confidence(0.32),benign(0.002),-1;PDE4C,missense_variant,p.E672D,ENST00000594617,NM_000923.4,c.2016A>T,MODERATE,,tolerated_low_confidence(0.32),benign(0.002),-1;PDE4C,missense_variant,p.E672D,ENST00000594465,,c.2016A>T,MODERATE,,tolerated_low_confidence(0.32),benign(0.002),-1;PDE4C,missense_variant,p.E566D,ENST00000447275,NM_001098819.2,c.1698A>T,MODERATE,,tolerated_low_confidence(0.39),benign(0.002),-1;PDE4C,missense_variant,p.E640D,ENST00000262805,NM_001098818.2,c.1920A>T,MODERATE,,tolerated_low_confidence(0.33),benign(0.009),-1;PDE4C,missense_variant,p.E441D,ENST00000539010,,c.1323A>T,MODERATE,,tolerated_low_confidence(0.35),benign(0.002),-1;PDE4C,missense_variant,p.E442D,ENST00000597297,,c.1326A>T,MODERATE,,tolerated_low_confidence(0.38),benign(0.142),-1;PDE4C,missense_variant,p.E387D,ENST00000598111,,c.1161A>T,MODERATE,,tolerated_low_confidence(0.3),benign(0.002),-1;AC068499.10,intron_variant,,ENST00000594805,,n.171-33T>A,MODIFIER,YES,,,1;AC068499.10,downstream_gene_variant,,ENST00000599416,,,MODIFIER,,,,1;PDE4C,3_prime_UTR_variant,,ENST00000599188,,c.*1174A>T,MODIFIER,,,,-1;PDE4C,non_coding_transcript_exon_variant,,ENST00000597360,,n.3011A>T,MODIFIER,,,,-1	A	ENST00000355502	Transcript	missense_variant	missense_variant	2888/5979	2016/2139	672/712	E/D	gaA/gaT		1		-1	PDE4C	HGNC	HGNC:8782	protein_coding	YES	CCDS12373.1	ENSP00000347689	Q08493		UPI0000127BF8		tolerated_low_confidence(0.32)	benign(0.002)	19/19		Low_complexity_(Seg):Seg;Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313;Superfamily_domains:SSF109604																	MODERATE	1	SNV	2			1											PASS	TCTTCTTCCTC	2f7340a7-26a7-47bc-868c-60b74bf7ddb1	48ad6981-df11-4452-a37d-3397736fcdcf	3b1de103-7a79-42dc-838c-c1d9ddcfea13	4b9fd822-17aa-4a22-8e17-175a72931d5d			False	Unknown	A	3	1	33	18211052	18211052	T	A	1	0	0	0	0	1	0	0	0	11729	1606	56	5		5	PDE4C	19	18211052	Missense_Mutation	SNP	T	TCGA-V4-A9F4-01A-11D-A39W-08		18211052	40406564	17	472											
PRAMEF17	391004	BI	GRCh38	chr1	13389937	13389937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactgctggcccagaagcttCgccccaggtgaggtgactca	12	14	1	3	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.280C>T	p.Arg94Cys	p.R94C	ENST00000376098	1/3	11	0	11	54			PRAMEF17,missense_variant,p.R94C,ENST00000376098,NM_001099851.2&NM_001045480.1,c.280C>T,MODERATE,YES,tolerated(0.09),benign(0.006),1	T	ENST00000376098	Transcript	missense_variant	missense_variant	306/1578	280/1425	94/474	R/C	Cgc/Tgc		1		1	PRAMEF17	HGNC	HGNC:29485	protein_coding	YES	CCDS41264.1	ENSP00000365266	Q5VTA0		UPI0000458AD3	NM_001099851.2;NM_001045480.1	tolerated(0.09)	benign(0.006)	1/3																			MODERATE	1	SNV	1			1											PASS	AGCTTCGCCCC	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			False	Unknown	T	3	4	34	13389937	13389937	C	T	1	0	0	0	0	1	0	0	0	12560	884	31	2		2	PRAMEF17	1	13389937	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		13389937	235566485	1	473											
DOCK7	85440	BI	GRCh38	chr1	62559006	62559006	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tacctatttggccagcaatgAcaggaggtctaataactaaa	8	8	1	1	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.2414T>A	p.Val805Asp	p.V805D	ENST00000251157	20/49	42	38	4	80			DOCK7,missense_variant,p.V805D,ENST00000251157,NM_001271999.1&NM_001272001.1,c.2414T>A,MODERATE,YES,deleterious(0),possibly_damaging(0.674),-1;DOCK7,missense_variant,p.V805D,ENST00000340370,NM_001272000.1&NM_033407.3,c.2414T>A,MODERATE,,deleterious(0),possibly_damaging(0.674),-1;DOCK7,missense_variant,p.V697D,ENST00000614472,,c.2090T>A,MODERATE,,deleterious(0),possibly_damaging(0.639),-1;DOCK7,upstream_gene_variant,,ENST00000454575,,,MODIFIER,,,,-1	T	ENST00000251157	Transcript	missense_variant	missense_variant	2518/7180	2414/6390	805/2129	V/D	gTc/gAc		1		-1	DOCK7	HGNC	HGNC:19190	protein_coding	YES	CCDS60156.1	ENSP00000251157	Q96N67		UPI0000E45660	NM_001271999.1;NM_001272001.1	deleterious(0)	possibly_damaging(0.674)	20/49																			MODERATE	1	SNV	1			1											PASS	CAATGACAGGA	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			False	Unknown	T	3	4	34	62559006	62559006	A	T	1	0	0	0	0	1	0	0	0	4507	275	10	5		5	DOCK7	1	62559006	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08	49169069	62559006	186397416	2	474											
FAT1	2195	BI	GRCh38	chr4	186617756	186617756	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctcttcagaatcagcatCcgtggtacttaagatggcaa	9	9	3	2	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.8830G>A	p.Asp2944Asn	p.D2944N	ENST00000441802	10/27	87	53	34	80			FAT1,missense_variant,p.D2944N,ENST00000441802,NM_005245.3,c.8830G>A,MODERATE,YES,,probably_damaging(0.936),-1;FAT1,missense_variant,p.D2946N,ENST00000614102,,c.8836G>A,MODERATE,,,possibly_damaging(0.894),-1	T	ENST00000441802	Transcript	missense_variant	missense_variant	9040/14786	8830/13767	2944/4588	D/N	Gat/Aat		1		-1	FAT1	HGNC	HGNC:3595	protein_coding	YES	CCDS47177.1	ENSP00000406229	Q14517		UPI000051946B	NM_005245.3		probably_damaging(0.936)	10/27		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	5			1											PASS	AGCATCCGTGG	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	T	3	4	34	186617756	186617756	C	T	1	0	0	0	0	1	0	0	0	5549	855	30	3		3	FAT1	4	186617756	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		186617756	3596799	3	475											
CMYA5	202333	BI	GRCh38	chr5	79736602	79736602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acccagaaatcagagaagcaAaggcagtaggaacccaacca	9	11	1	2	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.7837A>C	p.Lys2613Gln	p.K2613Q	ENST00000446378	2/13	51	26	25	43			CMYA5,missense_variant,p.K2613Q,ENST00000446378,NM_153610.4,c.7837A>C,MODERATE,YES,,benign(0.075),1;CMYA5,upstream_gene_variant,,ENST00000506603,,,MODIFIER,,,,1	C	ENST00000446378	Transcript	missense_variant	missense_variant	7868/12847	7837/12210	2613/4069	K/Q	Aag/Cag		1		1	CMYA5	HGNC	HGNC:14305	protein_coding	YES	CCDS47238.1	ENSP00000394770	Q8N3K9		UPI00004F9478	NM_153610.4		benign(0.075)	2/13																			MODERATE	1	SNV	5			1											PASS	AAGCAAAGGCA	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	C	3	2	34	79736602	79736602	A	C	1	0	0	0	0	1	0	0	0	3368	15	1	5		5	CMYA5	5	79736602	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		79736602	101801657	4	476											
COL9A1	1297	BI	GRCh38	chr6	70255006	70255006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcacggccatccacaCctggcaaaccctaaacacac	4	19	1	0	rs755767798	byFrequency	TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.1622G>A	p.Gly541Asp	p.G541D	ENST00000357250	24/38	21	0	21	45			COL9A1,missense_variant,p.G541D,ENST00000357250,NM_001851.4,c.1622G>A,MODERATE,YES,,probably_damaging(1),-1;COL9A1,missense_variant,p.G298D,ENST00000320755,NM_078485.3,c.893G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;COL9A1,non_coding_transcript_exon_variant,,ENST00000489611,,n.714G>A,MODIFIER,,,,-1;COL9A1,non_coding_transcript_exon_variant,,ENST00000360859,,n.268G>A,MODIFIER,,,,-1;COL9A1,upstream_gene_variant,,ENST00000447041,,,MODIFIER,,,,-1;COL9A1,non_coding_transcript_exon_variant,,ENST00000493682,,n.595G>A,MODIFIER,,,,-1;COL9A1,upstream_gene_variant,,ENST00000489861,,,MODIFIER,,,,-1	T	ENST00000357250	Transcript	missense_variant	missense_variant	1781/4761	1622/2766	541/921	G/D	gGt/gAt	rs755767798	1		-1	COL9A1	HGNC	HGNC:2217	protein_coding	YES	CCDS4971.1	ENSP00000349790	P20849		UPI000020D14B	NM_001851.4		probably_damaging(1)	24/38		PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1	8.236e-06	8.238e-06	0	0	0	0	1.499e-05	0	0		PASS	CCACACCTGGC	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	T	3	4	34	70255006	70255006	C	T	1	0	0	0	0	1	0	0	0	3496	507	18	3		3	COL9A1	6	70255006	Missense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		70255006	100550973	5	477											
NEIL2	252969	BI	GRCh38	chr8	11783386	11783386	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acactgctggaccagagataCttctcagggctaggtatgac	11	10	1	2	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.675C>A	p.Tyr225Ter	p.Y225*	ENST00000284503	4/5	41	36	5	66			NEIL2,stop_gained,p.Y225*,ENST00000284503,NM_145043.2,c.675C>A,HIGH,YES,,,1;NEIL2,stop_gained,p.Y225*,ENST00000455213,,c.675C>A,HIGH,,,,1;NEIL2,stop_gained,p.Y225*,ENST00000436750,NM_001135746.1,c.675C>A,HIGH,,,,1;NEIL2,stop_gained,p.Y164*,ENST00000403422,NM_001135747.1,c.492C>A,HIGH,,,,1;NEIL2,stop_gained,p.Y109*,ENST00000528323,NM_001135748.1,c.327C>A,HIGH,,,,1;NEIL2,3_prime_UTR_variant,,ENST00000528113,,c.*139C>A,MODIFIER,,,,1;NEIL2,non_coding_transcript_exon_variant,,ENST00000524741,,n.775C>A,MODIFIER,,,,1	A	ENST00000284503	Transcript	stop_gained	stop_gained	1274/2671	675/999	225/332	Y/*	taC/taA		1		1	NEIL2	HGNC	HGNC:18956	protein_coding	YES	CCDS5984.1	ENSP00000284503	Q969S2	A0A024R361	UPI000006D86F	NM_145043.2			4/5		Pfam_domain:PF06831;Superfamily_domains:SSF46946																	HIGH	1	SNV	2			1											PASS	AGATACTTCTC	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			False	Unknown	A	4	1	34	11783386	11783386	C	A	1	0	0	0	0	0	1	0	0	10347	576	20	5		5	NEIL2	8	11783386	Nonsense_Mutation	SNP	C	TCGA-V4-A9F5-01A-11D-A39W-08		11783386	133355250	6	478											
KTN1	3895	BI	GRCh38	chr14	55627988	55627988	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcgctgctgtgaaggaagAtgctgctgctacaaaggatc	12	9	0	2	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.1040A>G	p.Asp347Gly	p.D347G	ENST00000395314	6/44	43	24	19	41			KTN1,missense_variant,p.D347G,ENST00000395314,NM_001271014.1&NM_001079521.1,c.1040A>G,MODERATE,YES,deleterious(0.01),benign(0.304),1;KTN1,missense_variant,p.D347G,ENST00000395311,NM_001079522.1,c.1040A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.648),1;KTN1,missense_variant,p.D347G,ENST00000413890,,c.1040A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.648),1;KTN1,missense_variant,p.D347G,ENST00000438792,NM_004986.3,c.1040A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.533),1;KTN1,missense_variant,p.D347G,ENST00000395308,,c.1040A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.648),1;KTN1,missense_variant,p.D347G,ENST00000395309,,c.1040A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.648),1;KTN1,5_prime_UTR_variant,,ENST00000554567,,c.-466A>G,MODIFIER,,,,1;KTN1,missense_variant,p.D347G,ENST00000459737,,c.1040A>G,MODERATE,,deleterious(0.01),benign(0.304),1	G	ENST00000395314	Transcript	missense_variant	missense_variant	1108/4618	1040/4074	347/1357	D/G	gAt/gGt		1		1	KTN1	HGNC	HGNC:6467	protein_coding	YES	CCDS41957.1	ENSP00000378725	Q86UP2	A0A024R663	UPI0000190F88	NM_001271014.1;NM_001079521.1	deleterious(0.01)	benign(0.304)	6/44		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	GGAAGATGCTG	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	G	3	3	34	55627988	55627988	A	G	1	0	0	0	0	1	0	0	0	8483	333	12	4		4	KTN1	14	55627988	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		55627988	51415730	7	479											
EXOC5	10640	BI	GRCh38	chr14	57209645	57209645	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatacaactgtaggaataTtgttgaagatgctcatagat	8	7	1	3	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.1860A>G	p.=	p.Q620Q	ENST00000621441	17/18	28	18	10	25			EXOC5,synonymous_variant,p.Q620Q,ENST00000621441,NM_006544.3,c.1860A>G,LOW,YES,,,-1;EXOC5,synonymous_variant,p.Q623Q,ENST00000413566,,c.1869A>G,LOW,,,,-1;EXOC5,synonymous_variant,p.Q555Q,ENST00000340918,,c.1665A>G,LOW,,,,-1;EXOC5,3_prime_UTR_variant,,ENST00000555148,,c.*1694A>G,MODIFIER,,,,-1;EXOC5,non_coding_transcript_exon_variant,,ENST00000554011,,n.1579A>G,MODIFIER,,,,-1	C	ENST00000621441	Transcript	synonymous_variant	synonymous_variant	2220/10589	1860/2127	620/708	Q	caA/caG		1		-1	EXOC5	HGNC	HGNC:10696	protein_coding	YES	CCDS45111.1	ENSP00000484855	O00471		UPI0000047E53	NM_006544.3			17/18		Pfam_domain:PF07393																	LOW	1	SNV	1			1											PASS	GAATATTGTTG	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	C	2	2	34	57209645	57209645	T	C	1	0	0	0	0	0	0	0	1	5175	1490	52	4		4	EXOC5	14	57209645	Silent	SNP	T	TCGA-V4-A9F5-01A-11D-A39W-08	1581657	57209645	49834073	8	480											
ARHGDIA	396	BI	GRCh38	chr17	81869230	81869230	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgccggacactatctctcGgttaacctgcaggacccgaa	9	14	1	0	rs587777553		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.358C>T	p.Arg120Ter	p.R120*	ENST00000269321	5/6	41	20	21	54			ARHGDIA,stop_gained,p.R120*,ENST00000269321,NM_004309.4,c.358C>T,HIGH,YES,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000400721,NM_001185078.1,c.358C>T,HIGH,,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000541078,NM_001185077.1,c.358C>T,HIGH,,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000580685,,c.358C>T,HIGH,,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000584461,,c.358C>T,HIGH,,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000583868,,c.358C>T,HIGH,,,,-1;ARHGDIA,stop_gained,p.R120*,ENST00000579121,,c.358C>T,HIGH,,,,-1;ARHGDIA,intron_variant,,ENST00000581876,,c.191-155C>T,MODIFIER,,,,-1;RP11-498C9.3,downstream_gene_variant,,ENST00000576554,,,MODIFIER,YES,,,1;RP11-498C9.3,downstream_gene_variant,,ENST00000576021,,,MODIFIER,,,,1;ARHGDIA,upstream_gene_variant,,ENST00000582520,,,MODIFIER,,,,-1;ARHGDIA,3_prime_UTR_variant,,ENST00000580033,,c.*2C>T,MODIFIER,,,,-1;ARHGDIA,3_prime_UTR_variant,,ENST00000578351,,c.*2C>T,MODIFIER,,,,-1;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000582984,,n.560C>T,MODIFIER,,,,-1;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000583111,,n.510C>T,MODIFIER,,,,-1;ARHGDIA,non_coding_transcript_exon_variant,,ENST00000583791,,n.222C>T,MODIFIER,,,,-1;ARHGDIA,downstream_gene_variant,,ENST00000582309,,,MODIFIER,,,,-1;ARHGDIA,downstream_gene_variant,,ENST00000584397,,,MODIFIER,,,,-1;ARHGDIA,downstream_gene_variant,,ENST00000583499,,,MODIFIER,,,,-1	A	ENST00000269321	Transcript	stop_gained	stop_gained	494/1906	358/615	120/204	R/*	Cga/Tga	rs587777553	1		-1	ARHGDIA	HGNC	HGNC:678	protein_coding	YES	CCDS11788.1	ENSP00000269321	P52565	V9HWE8	UPI0000110BD8	NM_004309.4			5/6		Pfam_domain:PF02115;Superfamily_domains:SSF81296										pathogenic							HIGH	1	SNV	1		1	1											PASS	CTCTCGGTTAA	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455		COSM2805607	True	Unknown	A	4	1	34	81869230	81869230	G	A	1	0	0	0	0	0	1	0	0	1020	1124	39	2		2	ARHGDIA	17	81869230	Nonsense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08		81869230	1388211	9	481											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	51	26	25	68			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455		COSM52969	True	Unknown	T	3	4	34	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9F5-01A-11D-A39W-08		3118944	55498672	10	482											
C3	718	BI	GRCh38	chr19	6710837	6710837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccttcaacagcctgcccttGttcatgatctggggggacag	12	12	3	1	novel		TCGA-V4-A9F5-01A-11D-A39W-08	TCGA-V4-A9F5-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	ae46b873-ecff-4701-a5ed-f1b222f8b37a	44b54082-d4f3-4a61-91dd-0e6ad3ff3a33	c.1488C>A	p.Asn496Lys	p.N496K	ENST00000245907	13/41	25	10	15	27			C3,missense_variant,p.N496K,ENST00000245907,NM_000064.2,c.1488C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.9),-1;C3,downstream_gene_variant,,ENST00000597442,,,MODIFIER,,,,-1;C3,downstream_gene_variant,,ENST00000594270,,,MODIFIER,,,,-1;C3,non_coding_transcript_exon_variant,,ENST00000600763,,n.121C>A,MODIFIER,,,,-1;C3,downstream_gene_variant,,ENST00000595577,,,MODIFIER,,,,-1	T	ENST00000245907	Transcript	missense_variant	missense_variant	1581/5263	1488/4992	496/1663	N/K	aaC/aaA		1		-1	C3	HGNC	HGNC:1318	protein_coding	YES	CCDS32883.1	ENSP00000245907	P01024	V9HWA9	UPI000013EC9B	NM_000064.2	deleterious(0.01)	possibly_damaging(0.9)	13/41		Pfam_domain:PF07703																	MODERATE	1	SNV	1			1											PASS	CCCTTGTTCAT	0eb4d411-4ca8-4ca4-87bb-dc8622431bc4	13bb423e-3232-4409-8c7c-91bfbd688866	0541f667-c1b0-435d-82f9-e41e015f22a6	bbf07e1f-8c17-4c2e-89ed-38332d82e455			True	Unknown	T	3	4	34	6710837	6710837	G	T	1	0	0	0	0	1	0	0	0	2057	1368	48	5		5	C3	19	6710837	Missense_Mutation	SNP	G	TCGA-V4-A9F5-01A-11D-A39W-08	3591893	6710837	51906779	11	483											
GNB1	2782	BI	GRCh38	chr1	1804448	1804448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagctcacgactcacgCgcacgttcccctcacgagtt	8	18	3	0	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.401G>A	p.Arg134His	p.R134H	ENST00000378609	7/12	45	28	17	56			GNB1,missense_variant,p.R134H,ENST00000610897,NM_001282539.1,c.401G>A,MODERATE,YES,deleterious(0.01),benign(0.388),-1;GNB1,missense_variant,p.R134H,ENST00000378609,NM_002074.4,c.401G>A,MODERATE,,deleterious(0.01),benign(0.388),-1;GNB1,missense_variant,p.R34H,ENST00000615252,NM_001282538.1,c.101G>A,MODERATE,,deleterious(0.02),benign(0.388),-1;GNB1,missense_variant,p.R134H,ENST00000434686,,c.401G>A,MODERATE,,deleterious(0),benign(0.388),-1;GNB1,missense_variant,p.R121H,ENST00000439272,,c.362G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.705),-1;GNB1,downstream_gene_variant,,ENST00000437146,,,MODIFIER,,,,-1;GNB1,non_coding_transcript_exon_variant,,ENST00000471354,,n.1005G>A,MODIFIER,,,,-1	T	ENST00000378609	Transcript	missense_variant	missense_variant	733/3132	401/1023	134/340	R/H	cGc/cAc		1		-1	GNB1	HGNC	HGNC:4396	protein_coding		CCDS34.1	ENSP00000367872	P62873	A0A024R056	UPI00000230B3	NM_002074.4	deleterious(0.01)	benign(0.388)	7/12		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978;PIRSF_domain:PIRSF002394																	MODERATE		SNV	1			1											PASS	TCACGCGCACG	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	T	3	4	35	1804448	1804448	C	T	1	0	0	0	0	1	0	0	0	6395	768	27	2		2	GNB1	1	1804448	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		1804448	247151974	1	484											
DNAH11	8701	BI	GRCh38	chr7	21571944	21571944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtaaactttttaaacagagcActtatgacccatctgattgc	6	9	1	3	rs186667584	by1000G;byCluster	TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.1564A>G	p.Thr522Ala	p.T522A	ENST00000409508	8/82	21	8	13	35			DNAH11,missense_variant,p.T522A,ENST00000409508,NM_001277115.1,c.1564A>G,MODERATE,YES,tolerated(0.46),benign(0.007),1;DNAH11,missense_variant,p.T522A,ENST00000328843,,c.1564A>G,MODERATE,,,benign(0.012),1;DNAH11,missense_variant,p.T522A,ENST00000620169,,c.1564A>G,MODERATE,,,benign(0.007),1;DNAH11,downstream_gene_variant,,ENST00000496218,,,MODIFIER,,,,1	G	ENST00000409508	Transcript	missense_variant	missense_variant	1595/14167	1564/13551	522/4516	T/A	Act/Gct	rs186667584	1		1	DNAH11	HGNC	HGNC:2942	protein_coding	YES	CCDS64602.1	ENSP00000475939	Q96DT5	U3KQJ8	UPI0002B8CE70	NM_001277115.1	tolerated(0.46)	benign(0.007)	8/82		Pfam_domain:PF08385	2e-04	8e-04	0		0	0	0	5e-04	0								MODERATE	1	SNV	5			1	1.656e-05	2.007e-05	0.0002326	0	0	0	0	0	0		PASS	AGAGCACTTAT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	G	3	3	35	21571944	21571944	A	G	1	0	0	0	0	1	0	0	0	4413	159	6	4		4	DNAH11	7	21571944	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		21571944	137774029	2	485											
PTPRD	5789	BI	GRCh38	chr9	8389348	8389348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtgttgcaatataggCattttgcttcctatacccat	6	11	0	0	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.4270G>A	p.Ala1424Thr	p.A1424T	ENST00000356435	26/35	111	102	9	123			PTPRD,missense_variant,p.A1424T,ENST00000381196,NM_002839.3,c.4270G>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;PTPRD,missense_variant,p.A1424T,ENST00000356435,,c.4270G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PTPRD,missense_variant,p.A1018T,ENST00000355233,NM_130392.3,c.3052G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;PTPRD,missense_variant,p.A1017T,ENST00000397617,,c.3049G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PTPRD,missense_variant,p.A1014T,ENST00000397611,NM_001040712.2,c.3040G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PTPRD,missense_variant,p.A1008T,ENST00000537002,NM_130393.3,c.3022G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PTPRD,missense_variant,p.A1424T,ENST00000540109,,c.4270G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PTPRD,missense_variant,p.A1017T,ENST00000486161,NM_130391.3,c.3049G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;PTPRD,missense_variant,p.A1017T,ENST00000397606,NM_001171025.1,c.3049G>A,MODERATE,,deleterious(0),probably_damaging(1),-1	T	ENST00000356435	Transcript	missense_variant	missense_variant	4376/9472	4270/5739	1424/1912	A/T	Gcc/Acc		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding		CCDS43786.1	ENSP00000348812	P23468		UPI0000132990		deleterious(0)	probably_damaging(0.998)	26/35		Pfam_domain:PF00102;PROSITE_profiles:PS50055;SMART_domains:SM00194;Superfamily_domains:SSF52799																	MODERATE		SNV	5			1											PASS	ATAGGCATTTT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	T	3	4	35	8389348	8389348	C	T	1	0	0	0	0	1	0	0	0	12953	710	25	3		3	PTPRD	9	8389348	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		8389348	130005369	3	486											
PSIP1	11168	BI	GRCh38	chr9	15506614	15506614	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgtgggtggctttacAgctccatcaggaacttcgtc	11	9	1	0	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.96T>A	p.=	p.A32A	ENST00000380733	3/16	69	65	4	86			PSIP1,synonymous_variant,p.A32A,ENST00000380733,,c.96T>A,LOW,YES,,,-1;PSIP1,synonymous_variant,p.A32A,ENST00000380738,NM_001128217.1&NM_033222.3,c.96T>A,LOW,,,,-1;PSIP1,synonymous_variant,p.A32A,ENST00000380715,,c.96T>A,LOW,,,,-1;PSIP1,synonymous_variant,p.A32A,ENST00000380716,,c.96T>A,LOW,,,,-1;PSIP1,synonymous_variant,p.A32A,ENST00000397519,NM_021144.3,c.96T>A,LOW,,,,-1;PSIP1,non_coding_transcript_exon_variant,,ENST00000484265,,n.410T>A,MODIFIER,,,,-1;PSIP1,non_coding_transcript_exon_variant,,ENST00000488797,,n.409T>A,MODIFIER,,,,-1;PSIP1,non_coding_transcript_exon_variant,,ENST00000463712,,n.367T>A,MODIFIER,,,,-1;PSIP1,non_coding_transcript_exon_variant,,ENST00000487363,,n.197T>A,MODIFIER,,,,-1	T	ENST00000380733	Transcript	synonymous_variant	synonymous_variant	440/3391	96/1593	32/530	A	gcT/gcA		1		-1	PSIP1	HGNC	HGNC:9527	protein_coding	YES	CCDS6479.1	ENSP00000370109	O75475		UPI0000073FC4				3/16		Pfam_domain:PF00855;PROSITE_profiles:PS50812;SMART_domains:SM00293;Superfamily_domains:SSF63748																	LOW	1	SNV	1			1											PASS	TTTACAGCTCC	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			False	Unknown	T	2	4	35	15506614	15506614	A	T	1	0	0	0	0	0	0	0	1	12814	175	7	5		5	PSIP1	9	15506614	Silent	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08	7117266	15506614	122888103	4	487											
MFSD14C	0	BI	GRCh38	chr9	96949561	96949561	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaagtcactcaccatgggCtgatcctcatcagtgggatt	10	12	4	1	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.389G>T	p.Ser130Ile	p.S130I	ENST00000375223	4/5	135	75	60	271			HIATL2,missense_variant,p.S130I,ENST00000602917,,c.389G>T,MODERATE,YES,deleterious(0),probably_damaging(0.943),-1;HIATL2,missense_variant,p.S130I,ENST00000375223,,c.389G>T,MODERATE,,deleterious(0),probably_damaging(0.987),-1;HIATL2,non_coding_transcript_exon_variant,,ENST00000506067,,n.25G>T,MODIFIER,,,,-1	A	ENST00000375223	Transcript	missense_variant	missense_variant	603/619	389/405	130/134	S/I	aGc/aTc		1		-1	HIATL2	HGNC	HGNC:23672	protein_coding			ENSP00000364371	Q5VZR4		UPI000045889B		deleterious(0)	probably_damaging(0.987)	4/5		Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473																	MODERATE		SNV	5			1											PASS	ATGGGCTGATC	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	A	3	1	35	96949561	96949561	C	A	1	0	0	0	0	1	0	0	0	9486	797	28	5		5	MFSD14C	9	96949561	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	81442947	96949561	41445156	5	488											
HHEX	3087	BI	GRCh38	chr10	92692750	92692750	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaatggaggagactaaaaCaggtatggacatggttctgt	12	5	1	1	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.589C>T	p.Gln197Ter	p.Q197*	ENST00000282728	3/4	63	39	24	90			HHEX,stop_gained,p.Q197*,ENST00000282728,NM_002729.4,c.589C>T,HIGH,YES,,,1;HHEX,stop_gained,p.Q25*,ENST00000472590,,c.73C>T,HIGH,,,,1;HHEX,stop_gained,p.Q25*,ENST00000492654,,c.73C>T,HIGH,,,,1;HHEX,downstream_gene_variant,,ENST00000551454,,,MODIFIER,,,,1	T	ENST00000282728	Transcript	stop_gained	stop_gained;splice_region_variant	625/1727	589/813	197/270	Q/*	Cag/Tag		1		1	HHEX	HGNC	HGNC:4901	protein_coding	YES	CCDS7423.1	ENSP00000282728	Q03014		UPI000012CA59	NM_002729.4			3/4		SMART_domains:SM00389;Superfamily_domains:SSF46689																	HIGH	1	SNV	1			1											PASS	TAAAACAGGTA	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	T	4	4	35	92692750	92692750	C	T	1	0	0	0	0	0	1	0	0	6976	492	17	3		3	HHEX	10	92692750	Nonsense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		92692750	41104672	6	489											
OR51L1	119682	BI	GRCh38	chr11	4999067	4999067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggagtatgttcattcttggCtctccatcctcttctgtctt	7	11	6	0	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.85C>A	p.Leu29Ile	p.L29I	ENST00000321543	1/1	106	99	7	109			OR51L1,missense_variant,p.L29I,ENST00000321543,NM_001004755.1,c.85C>A,MODERATE,YES,tolerated(1),benign(0.003),1	A	ENST00000321543	Transcript	missense_variant	missense_variant	85/948	85/948	29/315	L/I	Ctc/Atc		1		1	OR51L1	HGNC	HGNC:14759	protein_coding	YES	CCDS31369.1	ENSP00000322156	Q8NGJ5		UPI0000041B76	NM_001004755.1	tolerated(1)	benign(0.003)	1/1		Transmembrane_helices:Tmhmm;Prints_domain:PR00237;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	CTTGGCTCTCC	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	A	3	1	35	4999067	4999067	C	A	1	0	0	0	0	1	0	0	0	11176	797	28	5		5	OR51L1	11	4999067	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08		4999067	130087555	7	490											
COL2A1	1280	BI	GRCh38	chr12	47978700	47978700	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggggccgctgtctcctcgaGcacctttgggaccatctttt	12	13	2	0	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.2792C>A	p.Ala931Asp	p.A931D	ENST00000380518	42/54	35	18	17	41			COL2A1,missense_variant,p.A931D,ENST00000380518,NM_001844.4,c.2792C>A,MODERATE,YES,,unknown(0),-1;COL2A1,missense_variant,p.A862D,ENST00000337299,NM_033150.2,c.2585C>A,MODERATE,,,unknown(0),-1;COL2A1,non_coding_transcript_exon_variant,,ENST00000493991,,n.1878C>A,MODIFIER,,,,-1;COL2A1,upstream_gene_variant,,ENST00000546974,,,MODIFIER,,,,-1;COL2A1,downstream_gene_variant,,ENST00000483376,,,MODIFIER,,,,-1	T	ENST00000380518	Transcript	missense_variant	missense_variant	2957/5071	2792/4464	931/1487	A/D	gCt/gAt		1		-1	COL2A1	HGNC	HGNC:2200	protein_coding	YES	CCDS41778.1	ENSP00000369889	P02458		UPI0000D79713	NM_001844.4		unknown(0)	42/54		Pfam_domain:PF01391;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CTCGAGCACCT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	T	3	4	35	47978700	47978700	G	T	1	0	0	0	0	1	0	0	0	3476	971	34	5		5	COL2A1	12	47978700	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		47978700	85296609	8	491											
XRCC3	7517	BI	GRCh38	chr14	103703210	103703210	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaagatctggctgccaAatcggagcttctgaagcagc	12	10	2	3	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.524T>C	p.Phe175Ser	p.F175S	ENST00000352127	6/9	17	8	9	13			XRCC3,missense_variant,p.F175S,ENST00000553264,,c.524T>C,MODERATE,YES,deleterious(0),benign(0.102),-1;XRCC3,missense_variant,p.F175S,ENST00000555055,NM_005432.3&NM_001100119.1,c.524T>C,MODERATE,,deleterious(0),benign(0.102),-1;XRCC3,missense_variant,p.F175S,ENST00000352127,NM_001100118.1,c.524T>C,MODERATE,,deleterious(0),benign(0.102),-1;XRCC3,missense_variant,p.F175S,ENST00000554913,,c.524T>C,MODERATE,,deleterious(0),benign(0.102),-1;KLC1,3_prime_UTR_variant,,ENST00000348520,NM_182923.3,c.*2011A>G,MODIFIER,,,,1;XRCC3,intron_variant,,ENST00000554974,,c.-54-3634T>C,MODIFIER,,,,-1;KLC1,downstream_gene_variant,,ENST00000334553,,,MODIFIER,,,,1;KLC1,downstream_gene_variant,,ENST00000555836,,,MODIFIER,,,,1;KLC1,downstream_gene_variant,,ENST00000452929,NM_001130107.1,,MODIFIER,YES,,,1;KLC1,downstream_gene_variant,,ENST00000554280,,,MODIFIER,,,,1;KLC1,downstream_gene_variant,,ENST00000557450,,,MODIFIER,,,,1;XRCC3,downstream_gene_variant,,ENST00000556980,,,MODIFIER,,,,-1;XRCC3,downstream_gene_variant,,ENST00000553361,,,MODIFIER,,,,-1;XRCC3,downstream_gene_variant,,ENST00000555964,,,MODIFIER,,,,-1;XRCC3,non_coding_transcript_exon_variant,,ENST00000555832,,n.28T>C,MODIFIER,,,,-1;XRCC3,non_coding_transcript_exon_variant,,ENST00000555451,,n.118T>C,MODIFIER,,,,-1;XRCC3,non_coding_transcript_exon_variant,,ENST00000554811,,n.1971T>C,MODIFIER,,,,-1;XRCC3,non_coding_transcript_exon_variant,,ENST00000554774,,n.138T>C,MODIFIER,,,,-1;XRCC3,downstream_gene_variant,,ENST00000557439,,,MODIFIER,,,,-1;KLC1,downstream_gene_variant,,ENST00000556986,,,MODIFIER,,,,1;KLC1,downstream_gene_variant,,ENST00000538504,,,MODIFIER,,,,1;XRCC3,downstream_gene_variant,,ENST00000553807,,,MODIFIER,,,,-1;KLC1,downstream_gene_variant,,ENST00000557686,,,MODIFIER,,,,1	G	ENST00000352127	Transcript	missense_variant	missense_variant	865/2563	524/1041	175/346	F/S	tTt/tCt		1		-1	XRCC3	HGNC	HGNC:12830	protein_coding		CCDS9984.1	ENSP00000343392	O43542	Q53XC8	UPI000000CC78	NM_001100118.1	deleterious(0)	benign(0.102)	6/9		Pfam_domain:PF08423;PROSITE_profiles:PS50162;Superfamily_domains:SSF52540;PIRSF_domain:PIRSF005856																	MODERATE		SNV	1			1											PASS	TGCCAAATCGG	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	G	3	3	35	103703210	103703210	A	G	1	0	0	0	0	1	0	0	0	18013	14	1	4		4	XRCC3	14	103703210	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		103703210	3340508	9	492											
ZC3H7A	29066	BI	GRCh38	chr16	11752784	11752784	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgtggccctgccactGcttctcactgttgcagtttt	11	11	1	1	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.2611C>T	p.Gln871Ter	p.Q871*	ENST00000355758	22/23	79	49	30	100			ZC3H7A,stop_gained,p.Q871*,ENST00000396516,,c.2611C>T,HIGH,YES,,,-1;ZC3H7A,stop_gained,p.Q871*,ENST00000355758,NM_014153.3,c.2611C>T,HIGH,,,,-1;ZC3H7A,stop_gained,p.Q67*,ENST00000575984,,c.199C>T,HIGH,,,,-1;ZC3H7A,downstream_gene_variant,,ENST00000571198,,,MODIFIER,,,,-1;Metazoa_SRP,downstream_gene_variant,,ENST00000597717,,,MODIFIER,YES,,,-1;ZC3H7A,3_prime_UTR_variant,,ENST00000571405,,c.*227C>T,MODIFIER,,,,-1;ZC3H7A,non_coding_transcript_exon_variant,,ENST00000570918,,n.379C>T,MODIFIER,,,,-1;ZC3H7A,downstream_gene_variant,,ENST00000570862,,,MODIFIER,,,,-1	A	ENST00000355758	Transcript	stop_gained	stop_gained	2789/3825	2611/2916	871/971	Q/*	Cag/Tag		1		-1	ZC3H7A	HGNC	HGNC:30959	protein_coding		CCDS10550.1	ENSP00000347999	Q8IWR0		UPI000000DB79	NM_014153.3			22/23		Superfamily_domains:SSF57667																	HIGH		SNV	1			1											PASS	CCACTGCTTCT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	A	4	1	35	11752784	11752784	G	A	1	0	0	0	0	0	1	0	0	18147	1328	46	3		3	ZC3H7A	16	11752784	Nonsense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		11752784	78585561	10	493											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	38	18	20	82			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc		COSM52969	True	Unknown	T	3	4	35	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-V4-A9F7-01A-11D-A39W-08		3118944	55498672	11	494											
ACP7	390928	BI	GRCh38	chr19	39100283	39100283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggggataggttcatgCggctcattgaacccgtggct	15	8	2	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.562C>T	p.Arg188Trp	p.R188W	ENST00000331256	5/13	63	59	4	74			PAPL,missense_variant,p.R188W,ENST00000331256,NM_001004318.2,c.562C>T,MODERATE,YES,deleterious(0),probably_damaging(0.988),1;PAPL,missense_variant,p.R47W,ENST00000601531,,c.137C>T,MODERATE,,deleterious(0),probably_damaging(0.982),1;PAPL,intron_variant,,ENST00000594229,,c.506-297C>T,MODIFIER,,,,1;PAPL,intron_variant,,ENST00000601575,,c.506-297C>T,MODIFIER,,,,1	T	ENST00000331256	Transcript	missense_variant	missense_variant	836/2966	562/1317	188/438	R/W	Cgg/Tgg		1		1	PAPL	Uniprot_gn		protein_coding	YES	CCDS33018.1	ENSP00000327557	Q6ZNF0		UPI000041AA68	NM_001004318.2	deleterious(0)	probably_damaging(0.988)	5/13		Pfam_domain:PF00149;Superfamily_domains:SSF56300																	MODERATE	1	SNV	2			1											PASS	TCATGCGGCTC	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc		COSM5343309	False	Unknown	T	3	4	35	39100283	39100283	C	T	1	0	0	0	0	1	0	0	0	208	759	27	2		2	ACP7	19	39100283	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	35981339	39100283	19517333	12	495											
BRD1	23774	BI	GRCh38	chr22	49823028	49823028	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagctttcttagcctttttTgccttcttcctgaccttgga	7	11	2	2	novel		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.1290A>G	p.=	p.A430A	ENST00000216267	1/12	136	60	76	190			BRD1,synonymous_variant,p.A430A,ENST00000457780,,c.1290A>G,LOW,,,,-1;BRD1,synonymous_variant,p.A430A,ENST00000216267,NM_014577.1,c.1290A>G,LOW,YES,,,-1;BRD1,synonymous_variant,p.A430A,ENST00000404760,NM_001304808.1,c.1290A>G,LOW,,,,-1;BRD1,synonymous_variant,p.A430A,ENST00000404034,NM_001304809.1,c.1290A>G,LOW,,,,-1;BRD1,non_coding_transcript_exon_variant,,ENST00000459821,,n.274A>G,MODIFIER,,,,-1;BRD1,non_coding_transcript_exon_variant,,ENST00000494833,,n.178A>G,MODIFIER,,,,-1;BRD1,synonymous_variant,p.A62A,ENST00000438393,,c.186A>G,LOW,,,,-1	C	ENST00000216267	Transcript	synonymous_variant	synonymous_variant	1777/4614	1290/3177	430/1058	A	gcA/gcG		1		-1	BRD1	HGNC	HGNC:1102	protein_coding	YES	CCDS14080.1	ENSP00000216267	O95696	A0A024R4W4	UPI0000126ACA	NM_014577.1			1/12		Low_complexity_(Seg):Seg																	LOW	1	SNV	1			1											PASS	TTTTTTGCCTT	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc			True	Unknown	C	2	2	35	49823028	49823028	T	C	1	0	0	0	0	0	0	0	1	1671	1799	63	4		4	BRD1	22	49823028	Silent	SNP	T	TCGA-V4-A9F7-01A-11D-A39W-08		49823028	995440	13	496											
NHS	4810	BI	GRCh38	chrX	17725949	17725949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcatctccacggctggcGtcctccttagcagccacatg	9	16	1	0	rs767956070		TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.1780G>A	p.Val594Ile	p.V594I	ENST00000380060	6/8	99	52	47	116			NHS,missense_variant,p.V435I,ENST00000615422,,c.1303G>A,MODERATE,,deleterious(0.02),probably_damaging(0.919),1;NHS,missense_variant,p.V594I,ENST00000380060,NM_198270.3,c.1780G>A,MODERATE,YES,tolerated(0.06),probably_damaging(0.997),1;NHS,missense_variant,p.V438I,ENST00000398097,NM_001136024.3,c.1312G>A,MODERATE,,deleterious(0.02),probably_damaging(0.994),1;NHS,missense_variant,p.V411I,ENST00000617601,NM_001291868.1,c.1231G>A,MODERATE,,deleterious(0.03),probably_damaging(0.994),1;NHS,downstream_gene_variant,,ENST00000485305,,,MODIFIER,,,,1	A	ENST00000380060	Transcript	missense_variant	missense_variant	2118/8761	1780/4893	594/1630	V/I	Gtc/Atc	rs767956070	1		1	NHS	HGNC	HGNC:7820	protein_coding	YES	CCDS14181.1	ENSP00000369400	Q6T4R5		UPI00001DFBF3	NM_198270.3	tolerated(0.06)	probably_damaging(0.997)	6/8																			MODERATE	1	SNV	1			1	8.236e-06	1.141e-05	0	0	0	0	0	0	9.882e-05		PASS	CTGGCGTCCTC	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc		COSM4850146;COSM4850147	True	Unknown	A	3	1	35	17725949	17725949	G	A	1	0	0	0	0	1	0	0	0	10443	1145	40	1		1	NHS	23	17725949	Missense_Mutation	SNP	G	TCGA-V4-A9F7-01A-11D-A39W-08		17725949	138314946	14	497											
EIF1AX	1964	BI	GRCh38	chrX	20138595	20138595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	4	13	4	1			TCGA-V4-A9F7-01A-11D-A39W-08	TCGA-V4-A9F7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1d9802da-a92a-4d0d-88a6-a112243f998e	42b09782-87dc-46fb-a791-471c0d18a3b0	c.44G>A	p.Gly15Asp	p.G15D	ENST00000379607	2/7	80	62	18	210			EIF1AX,missense_variant,p.G15D,ENST00000379607,NM_001412.3,c.44G>A,MODERATE,YES,deleterious(0),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2754G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant	248/4427	44/435	15/144	G/D	gGt/gAt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0)	unknown(0)	2/7		Low_complexity_(Seg):Seg;TIGRFAM_domain:TIGR00523;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	TCTTACCCCTG	86993b07-03cd-4202-a351-42d60c47a828	c46951bf-aee8-43b2-a91e-206af0e07863	ae6210d5-b948-4cdb-a4c8-5c4458c63839	64422cc5-5e5b-4ef9-a9e2-214cebf8dfbc		COSM3973544	True	Unknown	T	3	4	35	20138595	20138595	C	T	1	0	0	0	0	1	0	0	0	4828	507	18	3		3	EIF1AX	23	20138595	Missense_Mutation	SNP	C	TCGA-V4-A9F7-01A-11D-A39W-08	2412646	20138595	135902300	15	498											
SLC30A1	7779	BI	GRCh38	chr1	211575933	211575933	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataggttgtgtaaagaagtaTacaaaccattacaacacaaa	6	6	0	1	rs771486914	byFrequency	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.979A>G	p.Ile327Val	p.I327V	ENST00000367001	2/2	102	60	42	108			SLC30A1,missense_variant,p.I327V,ENST00000367001,NM_021194.2,c.979A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.967),-1	C	ENST00000367001	Transcript	missense_variant	missense_variant	1109/5474	979/1524	327/507	I/V	Ata/Gta	rs771486914	1		-1	SLC30A1	HGNC	HGNC:11012	protein_coding	YES	CCDS1499.1	ENSP00000355968	Q9Y6M5			NM_021194.2	deleterious(0.01)	probably_damaging(0.967)	2/2		Pfam_domain:PF01545;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1	3.295e-05	3.308e-05	0	0	0	0	6.01e-05	0	0		PASS	AAGTATACAAA	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	3	2	36	211575933	211575933	T	C	1	0	0	0	0	1	0	0	0	14823	1406	49	4		4	SLC30A1	1	211575933	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		211575933	37380489	1	499											
DYNC1I2	1781	BI	GRCh38	chr2	171744157	171744157	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggatggcatggggagaTtggatttgtggaatctcaat	16	3	1	1	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.1645T>C	p.=	p.L549L	ENST00000397119	16/18	29	24	5	33			DYNC1I2,synonymous_variant,p.L549L,ENST00000397119,NM_001378.2,c.1645T>C,LOW,YES,,,1;DYNC1I2,synonymous_variant,p.L523L,ENST00000340296,NM_001271788.1,c.1567T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L549L,ENST00000409773,NM_001271785.1,c.1645T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L523L,ENST00000409197,NM_001271789.1,c.1567T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L549L,ENST00000409453,,c.1645T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L523L,ENST00000508530,NM_001271790.1,c.1567T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L543L,ENST00000409317,,c.1627T>C,LOW,,,,1;DYNC1I2,synonymous_variant,p.L541L,ENST00000410079,NM_001271787.1&NM_001271786.1,c.1621T>C,LOW,,,,1;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000482454,,n.1798T>C,MODIFIER,,,,1;DYNC1I2,non_coding_transcript_exon_variant,,ENST00000479806,,n.1008T>C,MODIFIER,,,,1	C	ENST00000397119	Transcript	synonymous_variant	synonymous_variant	1812/2604	1645/1917	549/638	L	Ttg/Ctg		1		1	DYNC1I2	HGNC	HGNC:2964	protein_coding	YES	CCDS46450.1	ENSP00000380308	Q13409		UPI0000129A05	NM_001378.2			16/18		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	LOW	1	SNV	2			1											PASS	GGAGATTGGAT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	2	2	36	171744157	171744157	T	C	1	0	0	0	0	0	0	0	1	4667	1490	52	4		4	DYNC1I2	2	171744157	Silent	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		171744157	70449372	2	500											
SPEG	10290	BI	GRCh38	chr2	219480101	219480101	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgtagcacccgagaTtgtcaatcagagccccgtgt	11	10	2	3	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.5303T>C	p.Ile1768Thr	p.I1768T	ENST00000312358	25/41	66	41	25	49			SPEG,missense_variant,p.I1768T,ENST00000312358,NM_005876.4,c.5303T>C,MODERATE,YES,,probably_damaging(0.934),1;AC053503.11,downstream_gene_variant,,ENST00000429882,,,MODIFIER,YES,,,-1;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,,n.4546T>C,MODIFIER,,,,1	C	ENST00000312358	Transcript	missense_variant	missense_variant	5435/10782	5303/9804	1768/3267	I/T	aTt/aCt		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4		probably_damaging(0.934)	25/41		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;Superfamily_domains:SSF56112																	MODERATE		SNV	5			1											PASS	CGAGATTGTCA	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	3	2	36	219480101	219480101	T	C	1	0	0	0	0	1	0	0	0	15387	1493	52	4		4	SPEG	2	219480101	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08	47735944	219480101	22713428	3	501											
BAP1	8314	BI	GRCh38	chr3	52408526	52408526	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaatcacggacgtaTcatccaccaaggtagagacc	7	13	4	1	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.203A>G	p.Asp68Gly	p.D68G	ENST00000460680	4/17	13	1	12	17			BAP1,missense_variant,p.D68G,ENST00000460680,NM_004656.3,c.203A>G,MODERATE,YES,deleterious(0),benign(0.229),-1;BAP1,missense_variant,p.D68G,ENST00000296288,,c.203A>G,MODERATE,,deleterious(0),benign(0.147),-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-35A>G,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.203A>G,MODIFIER,,,,-1;BAP1,intron_variant,,ENST00000490917,,c.123-449A>G,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	missense_variant	missense_variant	675/3937	203/2190	68/729	D/G	gAt/gGt		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3	deleterious(0)	benign(0.229)	4/17		Low_complexity_(Seg):Seg;Pfam_domain:PF01088;Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1											PASS	ACGTATCATCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	3	2	36	52408526	52408526	T	C	1	0	0	0	0	1	0	0	0	1463	1435	50	4		4	BAP1	3	52408526	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		52408526	145887033	4	502											
B4GALT4	8702	BI	GRCh38	chr3	119226961	119226961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcctgagggcgataccGgcctctggacactttgggat	12	11	1	1	rs781226310	byFrequency	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.334C>T	p.Arg112Trp	p.R112W	ENST00000359213	5/9	31	10	21	49			B4GALT4,missense_variant,p.R112W,ENST00000467604,,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;B4GALT4,missense_variant,p.R112W,ENST00000483209,,c.334C>T,MODERATE,YES,deleterious(0),probably_damaging(0.976),-1;B4GALT4,missense_variant,p.R112W,ENST00000393765,NM_003778.3,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;B4GALT4,missense_variant,p.R112W,ENST00000359213,NM_212543.1,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;B4GALT4,missense_variant,p.R112W,ENST00000475803,,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;B4GALT4,missense_variant,p.R112W,ENST00000479150,,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.976),-1;B4GALT4,5_prime_UTR_variant,,ENST00000491906,,c.-78C>T,MODIFIER,,,,-1;B4GALT4,intron_variant,,ENST00000471675,,c.165+28C>T,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000470111,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000459778,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000493932,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000459820,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000473887,,,MODIFIER,,,,-1;B4GALT4-AS1,intron_variant,,ENST00000470790,,n.196+280G>A,MODIFIER,YES,,,1;B4GALT4,non_coding_transcript_exon_variant,,ENST00000460321,,n.328C>T,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000460395,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000484595,,,MODIFIER,,,,-1;B4GALT4,downstream_gene_variant,,ENST00000472471,,,MODIFIER,,,,-1;B4GALT4,missense_variant,p.R112W,ENST00000480814,,c.334C>T,MODERATE,,deleterious(0),probably_damaging(0.961),-1	A	ENST00000359213	Transcript	missense_variant	missense_variant	877/2385	334/1035	112/344	R/W	Cgg/Tgg	rs781226310	1		-1	B4GALT4	HGNC	HGNC:927	protein_coding		CCDS2986.1	ENSP00000352144	O60513	B2RAZ5		NM_212543.1	deleterious(0)	probably_damaging(0.976)	5/9		Pfam_domain:PF02709;Superfamily_domains:SSF53448																	MODERATE		SNV	2			1	2.471e-05	2.472e-05	0	0.0001729	0	0	1.499e-05	0	0		PASS	ATACCGGCCTC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	A	3	1	36	119226961	119226961	G	A	1	0	0	0	0	1	0	0	0	1429	1115	39	2		2	B4GALT4	3	119226961	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	66818435	119226961	79068598	5	503											
N4BP2	55728	BI	GRCh38	chr4	40144642	40144642	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgatttagggtactcttcAtgagcagaagatgaaagaag	11	4	2	6	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.4985A>C	p.His1662Pro	p.H1662P	ENST00000261435	16/18	120	57	63	143			N4BP2,missense_variant,p.H1662P,ENST00000261435,NM_018177.4,c.4985A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;N4BP2,missense_variant,p.H1292P,ENST00000513269,,c.3873A>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;N4BP2,3_prime_UTR_variant,,ENST00000511480,,c.*4776A>C,MODIFIER,,,,1;RP11-395I6.1,upstream_gene_variant,,ENST00000507583,,,MODIFIER,YES,,,-1	C	ENST00000261435	Transcript	missense_variant	missense_variant	5401/9744	4985/5313	1662/1770	H/P	cAt/cCt		1		1	N4BP2	HGNC	HGNC:29851	protein_coding	YES	CCDS3457.1	ENSP00000261435	Q86UW6		UPI00001A962C	NM_018177.4	deleterious(0)	probably_damaging(0.999)	16/18		Pfam_domain:PF08590																	MODERATE	1	SNV	5			1											PASS	TCTTCATGAGC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	3	2	36	40144642	40144642	A	C	1	0	0	0	0	1	0	0	0	10114	217	8	5		5	N4BP2	4	40144642	Missense_Mutation	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		40144642	150069913	6	504											
ADAMTS12	81792	BI	GRCh38	chr5	33576093	33576093	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagtgtgcagagccgtgGccgtttgtgagctgcttgta	14	9	0	2	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.3933C>T	p.=	p.G1311G	ENST00000504830	19/24	120	106	14	119			ADAMTS12,synonymous_variant,p.G1311G,ENST00000504830,NM_030955.2,c.3933C>T,LOW,YES,,,-1;ADAMTS12,synonymous_variant,p.G1226G,ENST00000352040,,c.3678C>T,LOW,,,,-1;ADAMTS12,downstream_gene_variant,,ENST00000504582,,,MODIFIER,,,,-1	A	ENST00000504830	Transcript	synonymous_variant	synonymous_variant	4269/8774	3933/4785	1311/1594	G	ggC/ggT		1		-1	ADAMTS12	HGNC	HGNC:14605	protein_coding	YES	CCDS34140.1	ENSP00000422554	P58397		UPI000013DC51	NM_030955.2			19/24		Superfamily_domains:SSF82895																	LOW	1	SNV	1			1											PASS	CCGTGGCCGTT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	A	2	1	36	33576093	33576093	G	A	1	0	0	0	0	0	0	0	1	301	1190	42	3		3	ADAMTS12	5	33576093	Silent	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		33576093	147962166	7	505											
IQGAP2	10788	BI	GRCh38	chr5	76673488	76673488	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accacagaacaagctctaacAtacccagaagtgaaaaataa	5	10	1	3	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.3108A>G	p.=	p.T1036T	ENST00000274364	25/36	89	79	10	85			IQGAP2,synonymous_variant,p.T1036T,ENST00000274364,NM_006633.3,c.3108A>G,LOW,YES,,,1;IQGAP2,synonymous_variant,p.T986T,ENST00000379730,NM_001285460.1,c.2958A>G,LOW,,,,1;IQGAP2,synonymous_variant,p.T986T,ENST00000505766,,c.2958A>G,LOW,,,,1;IQGAP2,synonymous_variant,p.T532T,ENST00000502745,NM_001285462.1,c.1596A>G,LOW,,,,1;IQGAP2,synonymous_variant,p.T532T,ENST00000396234,NM_001285461.1,c.1596A>G,LOW,,,,1;IQGAP2,downstream_gene_variant,,ENST00000514001,,,MODIFIER,,,,1;IQGAP2,non_coding_transcript_exon_variant,,ENST00000512383,,n.352A>G,MODIFIER,,,,1;IQGAP2,non_coding_transcript_exon_variant,,ENST00000504558,,n.154A>G,MODIFIER,,,,1;IQGAP2,upstream_gene_variant,,ENST00000504477,,,MODIFIER,,,,1;IQGAP2,upstream_gene_variant,,ENST00000512256,,,MODIFIER,,,,1;IQGAP2,upstream_gene_variant,,ENST00000509741,,,MODIFIER,,,,1	G	ENST00000274364	Transcript	synonymous_variant	synonymous_variant	3405/5844	3108/4728	1036/1575	T	acA/acG		1		1	IQGAP2	HGNC	HGNC:6111	protein_coding	YES	CCDS34188.1	ENSP00000274364	Q13576		UPI000020CB2C	NM_006633.3			25/36		Pfam_domain:PF00616;PROSITE_profiles:PS50018;SMART_domains:SM00323;Superfamily_domains:SSF48350																	LOW	1	SNV	1			1											PASS	CTAACATACCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	G	2	3	36	76673488	76673488	A	G	1	0	0	0	0	0	0	0	1	7721	204	8	4		4	IQGAP2	5	76673488	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08	43097395	76673488	104864771	8	506											
ANKRD6	22881	BI	GRCh38	chr6	89618010	89618018	+	In_Frame_Del	DEL	TCTCCTTAC	TCTCCTTAC	-													aataacccggaagttgctctTctccttactaaagctcccca					novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.772_780delCTCCTTACT	p.Leu258_Thr260del	p.L258_T260del	ENST00000339746	9/16	116	67	49	117			ANKRD6,inframe_deletion,p.L258_T260del,ENST00000369408,NM_001242813.1,c.772_780delCTCCTTACT,MODERATE,,,,1;ANKRD6,inframe_deletion,p.L258_T260del,ENST00000522441,NM_001242811.1,c.772_780delCTCCTTACT,MODERATE,YES,,,1;ANKRD6,inframe_deletion,p.L258_T260del,ENST00000339746,NM_001242809.1,c.772_780delCTCCTTACT,MODERATE,,,,1;ANKRD6,inframe_deletion,p.L258_T260del,ENST00000447838,NM_014942.4,c.772_780delCTCCTTACT,MODERATE,,,,1;ANKRD6,inframe_deletion,p.L258_T260del,ENST00000485637,,c.772_780delCTCCTTACT,MODERATE,,,,1;ANKRD6,intron_variant,,ENST00000520793,NM_001242814.1,c.615+1354_615+1362delCTCCTTACT,MODIFIER,,,,1;ANKRD6,intron_variant,,ENST00000518150,,c.121-5399_121-5391delCTCCTTACT,MODIFIER,,,,1;LYRM2,intron_variant,,ENST00000626778,,c.*117+3703_*117+3711delGTAAGGAGA,MODIFIER,,,,-1;ANKRD6,downstream_gene_variant,,ENST00000465722,,,MODIFIER,,,,1;LYRM2,downstream_gene_variant,,ENST00000520441,,,MODIFIER,,,,-1;LYRM2,intron_variant,,ENST00000520897,,n.562+3703_562+3711delGTAAGGAGA,MODIFIER,,,,-1;LYRM2,downstream_gene_variant,,ENST00000523793,,,MODIFIER,,,,-1;ANKRD6,3_prime_UTR_variant,,ENST00000524056,,c.*108_*116delCTCCTTACT,MODIFIER,,,,1;ANKRD6,non_coding_transcript_exon_variant,,ENST00000518253,,n.589_597delCTCCTTACT,MODIFIER,,,,1;ANKRD6,non_coding_transcript_exon_variant,,ENST00000520839,,n.318_326delCTCCTTACT,MODIFIER,,,,1;LYRM2,intron_variant,,ENST00000412237,,c.*117+3703_*117+3711delGTAAGGAGA,MODIFIER,,,,-1;ANKRD6,upstream_gene_variant,,ENST00000415924,,,MODIFIER,,,,1;ANKRD6,upstream_gene_variant,,ENST00000479572,,,MODIFIER,,,,1	-	ENST00000339746	Transcript	inframe_deletion	inframe_deletion	1081-1089/3073	771-779/2184	257-260/727	LLLT/L	ctTCTCCTTACt/ctt		1		1	ANKRD6	HGNC	HGNC:17280	protein_coding		CCDS56441.1	ENSP00000345767	Q9Y2G4		UPI000020D325	NM_001242809.1			9/16		PROSITE_profiles:PS50297;SMART_domains:SM00248;Superfamily_domains:SSF48403																	MODERATE		deletion	1	1		1											PASS	TGCTCTTCTCCTTACTAAAG	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	-	7	5	36	89618010	89618010	TCTCCTTAC	-	1	0	1	0	1	0	0	0	0	786	1770	62	0		0	ANKRD6	6	89618010	In_Frame_Del	DEL	TCTCCTTAC	TCGA-V4-A9F8-01A-11D-A39W-08		89618010	81187969	9	507											
ING3	54556	BI	GRCh38	chr7	120969066	120969067	+	Frame_Shift_Ins	INS	-	-	TAAT													agttatgaagcatttaagaaINStaatgactttcagttgggaa					novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.771_774dupTAAT	p.Asp259Ter	p.D259*	ENST00000315870	9/12	55	36	19	68			ING3,frameshift_variant,p.D259*,ENST00000315870,NM_019071.2,c.771_774dupTAAT,HIGH,YES,,,1;ING3,frameshift_variant,p.D244*,ENST00000431467,,c.726_729dupTAAT,HIGH,,,,1;ING3,3_prime_UTR_variant,,ENST00000427726,,c.*392_*395dupTAAT,MODIFIER,,,,1;ING3,non_coding_transcript_exon_variant,,ENST00000497502,,n.368_371dupTAAT,MODIFIER,,,,1	TAAT	ENST00000315870	Transcript	frameshift_variant	frameshift_variant	918-919/3777	770-771/1257	257/418	N/NNX	aat/aaTAATt		1		1	ING3	HGNC	HGNC:14587	protein_coding	YES	CCDS5778.1	ENSP00000320566	Q9NXR8		UPI00000373B3	NM_019071.2			9/12																			HIGH	1	insertion	1	4		1											PASS	TAAGAATAATG	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	TAAT	7	5	36	120969066	120969066	-	TAAT	1	0	1	1	0	0	0	0	0	7639	101	4	0		0	ING3	7	120969066	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		120969066	38376907	10	508											
XKR4	114786	BI	GRCh38	chr8	55102909	55102909	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactactacctgcgcggcCagcgctggtggttcgggctc	15	13	0	0	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.421C>T	p.Gln141Ter	p.Q141*	ENST00000327381	1/3	114	101	13	61			XKR4,stop_gained,p.Q141*,ENST00000327381,NM_052898.1,c.421C>T,HIGH,YES,,,1;XKR4,stop_gained,p.Q141*,ENST00000622811,,c.421C>T,HIGH,,,,1	T	ENST00000327381	Transcript	stop_gained	stop_gained	521/19880	421/1953	141/650	Q/*	Cag/Tag		1		1	XKR4	HGNC	HGNC:29394	protein_coding	YES	CCDS34893.1	ENSP00000328326	Q5GH76		UPI000016098C	NM_052898.1			1/3		Pfam_domain:PF09815																	HIGH	1	SNV	1			1											PASS	GCGGCCAGCGC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	T	4	4	36	55102909	55102909	C	T	1	0	0	0	0	0	1	0	0	17992	595	21	3		3	XKR4	8	55102909	Nonsense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		55102909	90035727	11	509											
NDUFAF6	137682	BI	GRCh38	chr8	95052225	95052225	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aagcatttcctgcttttcttCagacggtaagtagattaaca	7	8	2	2	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.868C>T	p.Gln290Ter	p.Q290*	ENST00000396124	8/9	131	75	56	119			NDUFAF6,stop_gained,p.Q198*,ENST00000396113,,c.592C>T,HIGH,,,,1;NDUFAF6,stop_gained,p.Q198*,ENST00000396111,,c.592C>T,HIGH,,,,1;NDUFAF6,stop_gained,p.Q290*,ENST00000396124,NM_152416.3,c.868C>T,HIGH,YES,,,1;RNU6-1209P,upstream_gene_variant,,ENST00000363655,,,MODIFIER,YES,,,1;NDUFAF6,intron_variant,,ENST00000523184,,n.93+3667C>T,MODIFIER,,,,1;NDUFAF6,3_prime_UTR_variant,,ENST00000520757,,c.*506C>T,MODIFIER,,,,1;NDUFAF6,3_prime_UTR_variant,,ENST00000518258,,c.*843C>T,MODIFIER,,,,1;NDUFAF6,3_prime_UTR_variant,,ENST00000517976,,c.*759C>T,MODIFIER,,,,1;NDUFAF6,3_prime_UTR_variant,,ENST00000454358,,c.*566C>T,MODIFIER,,,,1	T	ENST00000396124	Transcript	stop_gained	stop_gained	891/1798	868/1002	290/333	Q/*	Cag/Tag		1		1	NDUFAF6	HGNC	HGNC:28625	protein_coding	YES	CCDS6266.2	ENSP00000379430	Q330K2		UPI0000F0A5CF	NM_152416.3			8/9		Pfam_domain:PF00494;Superfamily_domains:SSF48576																	HIGH	1	SNV	2			1											PASS	TTCTTCAGACG	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	T	4	4	36	95052225	95052225	C	T	1	0	0	0	0	0	1	0	0	10300	840	29	3		3	NDUFAF6	8	95052225	Nonsense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08	39949316	95052225	50086411	12	510											
MROH1	727957	BI	GRCh38	chr8	144180436	144180436	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcacagcgttcggcgtaGtccccttcctgccatccgtc	8	18	1	0	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.475G>A	p.Val159Ile	p.V159I	ENST00000326134	5/42	140	69	71	77			MROH1,missense_variant,p.V159I,ENST00000528919,NM_032450.2,c.475G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.816),1;MROH1,missense_variant,p.V159I,ENST00000326134,,c.475G>A,MODERATE,,deleterious(0),possibly_damaging(0.816),1;MROH1,missense_variant,p.V159I,ENST00000534366,NM_001288814.1,c.475G>A,MODERATE,,deleterious(0),probably_damaging(0.946),1;MROH1,missense_variant,p.V159I,ENST00000423230,NM_001099281.2&NM_001099280.2,c.475G>A,MODERATE,,deleterious(0),probably_damaging(0.99),1;MROH1,non_coding_transcript_exon_variant,,ENST00000527552,,n.604G>A,MODIFIER,,,,1;MROH1,non_coding_transcript_exon_variant,,ENST00000532255,,n.592G>A,MODIFIER,,,,1;MROH1,non_coding_transcript_exon_variant,,ENST00000525287,,n.711G>A,MODIFIER,,,,1;MROH1,non_coding_transcript_exon_variant,,ENST00000534508,,n.307G>A,MODIFIER,,,,1	A	ENST00000326134	Transcript	missense_variant	missense_variant	532/5183	475/4926	159/1641	V/I	Gtc/Atc		1		1	MROH1	HGNC	HGNC:26958	protein_coding		CCDS47938.1	ENSP00000321737	Q8NDA8		UPI0001AE6FA6		deleterious(0)	possibly_damaging(0.816)	5/42		Low_complexity_(Seg):Seg;Superfamily_domains:SSF48371																	MODERATE		SNV	1			1											PASS	GCGTAGTCCCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	A	3	1	36	144180436	144180436	G	A	1	0	0	0	0	1	0	0	0	9743	1029	36	3		3	MROH1	8	144180436	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08	49128211	144180436	958200	13	511											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	83	45	38	83			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336		COSM28758	True	Unknown	G	3	3	36	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		77794572	60600145	14	512											
CCDC89	220388	BI	GRCh38	chr11	85686091	85686091	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggggcggggtgtccaTcctgggagcctgctgtttct	16	10	2	0	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.40A>C	p.Met14Leu	p.M14L	ENST00000316398	1/1	85	74	11	96			CCDC89,missense_variant,p.M14L,ENST00000316398,NM_152723.1,c.40A>C,MODERATE,YES,deleterious_low_confidence(0.02),benign(0.066),-1;CREBZF,upstream_gene_variant,,ENST00000534224,,,MODIFIER,,,,-1;CREBZF,upstream_gene_variant,,ENST00000531515,,,MODIFIER,,,,-1	G	ENST00000316398	Transcript	missense_variant	missense_variant	187/1412	40/1125	14/374	M/L	Atg/Ctg		1		-1	CCDC89	HGNC	HGNC:26762	protein_coding	YES	CCDS8270.1	ENSP00000320649	Q8N998		UPI000000DAB1	NM_152723.1	deleterious_low_confidence(0.02)	benign(0.066)	1/1																			MODERATE	1	SNV				1											PASS	GTCCATCCTGG	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	G	3	3	36	85686091	85686091	T	G	1	0	0	0	0	1	0	0	0	2565	1435	50	5		5	CCDC89	11	85686091	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08		85686091	49400531	15	513											
NCKAP5L	57701	BI	GRCh38	chr12	49796170	49796170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggccccctaaaggtgctccGagaaaggtccagaatgttct	11	11	1	2	rs764426987		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.1690C>T	p.Arg564Trp	p.R564W	ENST00000335999	8/13	31	16	15	29			NCKAP5L,missense_variant,p.R564W,ENST00000335999,NM_001037806.3,c.1690C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.971),-1;NCKAP5L,missense_variant,p.R279W,ENST00000433948,,c.833C>T,MODERATE,,deleterious(0.02),probably_damaging(0.971),-1	A	ENST00000335999	Transcript	missense_variant	missense_variant	1892/4900	1690/4005	564/1334	R/W	Cgg/Tgg	rs764426987	1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0			NM_001037806.3	deleterious(0.02)	probably_damaging(0.971)	8/13		PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1											PASS	GCTCCGAGAAA	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	A	3	1	36	49796170	49796170	G	A	1	0	0	0	0	1	0	0	0	10242	1057	37	2		2	NCKAP5L	12	49796170	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		49796170	83479139	16	514											
GPC5	2262	BI	GRCh38	chr13	92866404	92866405	+	Frame_Shift_Ins	INS	-	-	T													atctatgacattcactctgaINStaagtgtggtgatgttactt					novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.1685dupT	p.Ser563LysfsTer22	p.S563Kfs*22	ENST00000377067	8/8	132	55	77	121			GPC5,frameshift_variant,p.S563Kfs*22,ENST00000377067,NM_004466.4,c.1685dupT,HIGH,YES,,,1;GPC5,frameshift_variant,p.S43Kfs*51,ENST00000618283,,c.124dupT,HIGH,,,,1	T	ENST00000377067	Transcript	frameshift_variant	frameshift_variant	2056-2057/2889	1684-1685/1719	562/572	I/IX	ata/aTta		1		1	GPC5	HGNC	HGNC:4453	protein_coding	YES	CCDS9468.1	ENSP00000366267	P78333		UPI0000001C85	NM_004466.4			8/8		Pfam_domain:PF01153																	HIGH	1	insertion	1	1		1											PASS	CTCTGATAAGT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	T	7	5	36	92866404	92866404	-	T	1	0	1	1	0	0	0	0	0	6503	333	12	0		0	GPC5	13	92866404	Frame_Shift_Ins	INS	-	TCGA-V4-A9F8-01A-11D-A39W-08		92866404	21497924	17	515											
ARHGEF40	55701	BI	GRCh38	chr14	21080760	21080760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagacagagctgcgattccGtgctttcagcgctgaggtcc	14	11	1	3	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.2474G>T	p.Arg825Leu	p.R825L	ENST00000298694	12/24	33	24	9	40			ARHGEF40,missense_variant,p.R825L,ENST00000298694,NM_001278530.1&NM_018071.4&NM_001278529.1,c.2474G>T,MODERATE,YES,tolerated(0.1),benign(0.414),1;ARHGEF40,3_prime_UTR_variant,,ENST00000553709,,c.*638G>T,MODIFIER,,,,1;ARHGEF40,3_prime_UTR_variant,,ENST00000556399,,c.*798G>T,MODIFIER,,,,1;ARHGEF40,non_coding_transcript_exon_variant,,ENST00000555232,,n.706G>T,MODIFIER,,,,1;ARHGEF40,upstream_gene_variant,,ENST00000554514,,,MODIFIER,,,,1;ARHGEF40,downstream_gene_variant,,ENST00000555052,,,MODIFIER,,,,1	T	ENST00000298694	Transcript	missense_variant	missense_variant	2601/5919	2474/4560	825/1519	R/L	cGt/cTt		1		1	ARHGEF40	HGNC	HGNC:25516	protein_coding	YES	CCDS32041.1	ENSP00000298694	Q8TER5		UPI00001FCFB7	NM_001278530.1;NM_018071.4;NM_001278529.1	tolerated(0.1)	benign(0.414)	12/24																			MODERATE	1	SNV	2			1											panel_of_normals	ATTCCGTGCTT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336	gdc_pon		True	Unknown	T	3	4	36	21080760	21080760	G	T	1	0	0	0	0	1	0	0	0	1044	1145	40	5		5	ARHGEF40	14	21080760	Missense_Mutation	SNP	G	TCGA-V4-A9F8-01A-11D-A39W-08		21080760	85962958	18	516											
C16orf62	57020	BI	GRCh38	chr16	19610352	19610352	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcctgccccggttgacAtgcatgatcagagggatcgg	15	10	1	3	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.960A>C	p.=	p.T320T	ENST00000417362	12/31	25	11	14	27			C16orf62,synonymous_variant,p.T409T,ENST00000251143,NM_020314.5,c.1227A>C,LOW,YES,,,1;C16orf62,synonymous_variant,p.T409T,ENST00000438132,,c.1227A>C,LOW,,,,1;C16orf62,synonymous_variant,p.T170T,ENST00000448695,,c.510A>C,LOW,,,,1;C16orf62,synonymous_variant,p.T69T,ENST00000543152,,c.207A>C,LOW,,,,1;C16orf62,synonymous_variant,p.T409T,ENST00000542263,NM_001300743.1,c.1227A>C,LOW,,,,1;C16orf62,synonymous_variant,p.T320T,ENST00000417362,,c.960A>C,LOW,,,,1;C16orf62,synonymous_variant,p.T320T,ENST00000513947,,c.960A>C,LOW,,,,1;C16orf62,5_prime_UTR_variant,,ENST00000538552,,c.-4A>C,MODIFIER,,,,1;C16orf62,non_coding_transcript_exon_variant,,ENST00000540101,,n.249A>C,MODIFIER,,,,1;C16orf62,non_coding_transcript_exon_variant,,ENST00000535164,,n.297A>C,MODIFIER,,,,1;C16orf62,non_coding_transcript_exon_variant,,ENST00000539705,,n.144A>C,MODIFIER,,,,1;C16orf62,non_coding_transcript_exon_variant,,ENST00000541153,,n.277A>C,MODIFIER,,,,1;C16orf62,non_coding_transcript_exon_variant,,ENST00000546175,,n.288A>C,MODIFIER,,,,1;C16orf62,downstream_gene_variant,,ENST00000539322,,,MODIFIER,,,,1;C16orf62,downstream_gene_variant,,ENST00000540240,,,MODIFIER,,,,1	C	ENST00000417362	Transcript	synonymous_variant	synonymous_variant	970/3115	960/2892	320/963	T	acA/acC		1		1	C16orf62	HGNC	HGNC:24641	protein_coding			ENSP00000395973	Q7Z3J2		UPI000018CE96				12/31																			LOW		SNV	1			1											PASS	TTGACATGCAT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	C	2	2	36	19610352	19610352	A	C	1	0	0	0	0	0	0	0	1	1861	204	8	5		5	C16orf62	16	19610352	Silent	SNP	A	TCGA-V4-A9F8-01A-11D-A39W-08		19610352	70727993	19	517											
ZNF594	84622	BI	GRCh38	chr17	5183546	5183552	+	Frame_Shift_Del	DEL	CTTCCCC	CTTCCCC	-													catttattgcataaatatggCttccccctactgtggattct					novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.705_711delGGGGAAG	p.Arg235SerfsTer160	p.R235Sfs*160	ENST00000399604	1/1	147	140	7	168			ZNF594,frameshift_variant,p.R235Sfs*160,ENST00000399604,,c.705_711delGGGGAAG,HIGH,YES,,,-1;ZNF594,frameshift_variant,p.R235Sfs*160,ENST00000575779,NM_032530.1,c.705_711delGGGGAAG,HIGH,,,,-1;ZNF594,downstream_gene_variant,,ENST00000576772,,,MODIFIER,,,,-1	-	ENST00000399604	Transcript	frameshift_variant	frameshift_variant	846-852/4862	705-711/2424	235-237/807	RGK/X	agGGGGAAG/ag		1		-1	ZNF594	HGNC	HGNC:29392	protein_coding	YES	CCDS42241.1	ENSP00000382513	Q96JF6		UPI00001C1FDF				1/1		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	HIGH	1	deletion				1											PASS	ATATGGCTTCCCCCTACT	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			False	Unknown	-	7	5	36	5183546	5183546	CTTCCCC	-	1	0	1	0	1	0	0	0	0	18599	796	28	0		0	ZNF594	17	5183546	Frame_Shift_Del	DEL	CTTCCCC	TCGA-V4-A9F8-01A-11D-A39W-08		5183546	78073895	20	518											
TRPV2	51393	BI	GRCh38	chr17	16417675	16417675	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctcctaggatgaccTcaccctccagctctccagtt	5	19	2	1	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.7T>G	p.Ser3Ala	p.S3A	ENST00000338560	2/15	97	88	9	79			TRPV2,missense_variant,p.S3A,ENST00000338560,NM_016113.4,c.7T>G,MODERATE,YES,tolerated_low_confidence(0.08),benign(0.004),1;TRPV2,upstream_gene_variant,,ENST00000455666,,,MODIFIER,,,,1;RP11-138I1.2,upstream_gene_variant,,ENST00000580996,,,MODIFIER,YES,,,-1	G	ENST00000338560	Transcript	missense_variant	missense_variant	406/2808	7/2295	3/764	S/A	Tca/Gca		1		1	TRPV2	HGNC	HGNC:18082	protein_coding	YES	CCDS32576.1	ENSP00000342222	Q9Y5S1		UPI0000032F4E	NM_016113.4	tolerated_low_confidence(0.08)	benign(0.004)	2/15																			MODERATE	1	SNV	1			1											PASS	TGACCTCACCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	G	3	3	36	16417675	16417675	T	G	1	0	0	0	0	1	0	0	0	17102	1551	54	5		5	TRPV2	17	16417675	Missense_Mutation	SNP	T	TCGA-V4-A9F8-01A-11D-A39W-08	11234129	16417675	66839766	21	519											
SMCR8	140775	BI	GRCh38	chr17	18317935	18317935	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgccttaaaattcatccgcCagtacccctttgcccaccca	4	18	1	0	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.2146C>A	p.Gln716Lys	p.Q716K	ENST00000406438	1/2	65	47	18	62			SMCR8,missense_variant,p.Q716K,ENST00000406438,NM_144775.2,c.2146C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.991),1;TOP3A,upstream_gene_variant,,ENST00000542570,NM_004618.3,,MODIFIER,YES,,,-1;TOP3A,upstream_gene_variant,,ENST00000321105,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000580095,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000582230,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000584669,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000584887,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000584582,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000582981,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000472959,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000461127,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000583328,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000585031,,,MODIFIER,,,,-1;TOP3A,upstream_gene_variant,,ENST00000580713,,,MODIFIER,,,,-1;RPL21P121,downstream_gene_variant,,ENST00000439258,,,MODIFIER,YES,,,1	A	ENST00000406438	Transcript	missense_variant	missense_variant	2626/8279	2146/2814	716/937	Q/K	Cag/Aag		1		1	SMCR8	HGNC	HGNC:17921	protein_coding	YES	CCDS11195.2	ENSP00000385025	Q8TEV9		UPI0000E0322D	NM_144775.2	deleterious(0.01)	probably_damaging(0.991)	1/2																			MODERATE	1	SNV	1			1											PASS	TCCGCCAGTAC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	A	3	1	36	18317935	18317935	C	A	1	0	0	0	0	1	0	0	0	15087	595	21	5		5	SMCR8	17	18317935	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08	1900260	18317935	64939506	22	520											
RYR1	6261	BI	GRCh38	chr19	38460564	38460564	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcctctcacacaccgacttCgtgccctgccctgtggacac	8	18	1	0	rs757850226	byFrequency	TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.2550C>T	p.=	p.F850F	ENST00000359596	20/106	73	51	22	63			RYR1,synonymous_variant,p.F850F,ENST00000355481,NM_001042723.1,c.2550C>T,LOW,,,,1;RYR1,synonymous_variant,p.F850F,ENST00000360985,,c.2550C>T,LOW,,,,1;RYR1,synonymous_variant,p.F850F,ENST00000359596,NM_000540.2,c.2550C>T,LOW,YES,,,1	T	ENST00000359596	Transcript	synonymous_variant	synonymous_variant	2550/15117	2550/15117	850/5038	F	ttC/ttT	rs757850226	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			20/106		Pfam_domain:PF02026																	LOW	1	SNV	5			1	1.647e-05	1.67e-05	0	0	0	0	1.524e-05	0	6.064e-05		PASS	GACTTCGTGCC	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336		COSM3222312	True	Unknown	T	2	4	36	38460564	38460564	C	T	1	0	0	0	0	0	0	0	1	14028	883	31	2		2	RYR1	19	38460564	Silent	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		38460564	20157052	23	521											
MED12	9968	BI	GRCh38	chrX	71119761	71119761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacactggtcgcaggaagCcccaagtgaaccagaaggat	12	11	0	3	novel		TCGA-V4-A9F8-01A-11D-A39W-08	TCGA-V4-A9F8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5401ee40-458b-4fc4-a5ed-074be012c429	62f5b5ee-e92a-431f-93bb-b25314d6aead	c.280C>T	p.Pro94Ser	p.P94S	ENST00000374080	3/45	12	0	12	13			MED12,missense_variant,p.P94S,ENST00000374102,,c.280C>T,MODERATE,,,probably_damaging(0.909),1;MED12,missense_variant,p.P94S,ENST00000374080,NM_005120.2,c.280C>T,MODERATE,YES,,possibly_damaging(0.858),1;MED12,missense_variant,p.P79S,ENST00000429213,,c.234C>T,MODERATE,,tolerated(0.13),benign(0.02),1;MED12,5_prime_UTR_variant,,ENST00000333646,,c.-180C>T,MODIFIER,,,,1	T	ENST00000374080	Transcript	missense_variant	missense_variant	312/6795	280/6534	94/2177	P/S	Ccc/Tcc		1		1	MED12	HGNC	HGNC:11957	protein_coding	YES	CCDS43970.1	ENSP00000363193	Q93074		UPI00004257E2	NM_005120.2		possibly_damaging(0.858)	3/45																			MODERATE	1	SNV	2			1											PASS	GGAAGCCCCAA	332c69e1-c7dd-4662-9c5e-e7e4edce2703	ef5564a3-4672-468e-b0c3-513fd6e70243	9e9882ae-4d01-4853-9350-e9d7b1a7031b	64bd88bd-1d5a-4569-9f46-f668d448c336			True	Unknown	T	3	4	36	71119761	71119761	C	T	1	0	0	0	0	1	0	0	0	9367	739	26	3		3	MED12	23	71119761	Missense_Mutation	SNP	C	TCGA-V4-A9F8-01A-11D-A39W-08		71119761	84921134	24	522											
KIAA1211	57482	BI	GRCh38	chr4	56315492	56315492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctcccagcagcgcgtccGcactcgcagaatgggcttcc	11	16	1	1			TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	c.1990G>A	p.Ala664Thr	p.A664T	ENST00000264229	8/11	34	31	3	46			KIAA1211,missense_variant,p.A664T,ENST00000504228,,c.1990G>A,MODERATE,YES,tolerated(0.09),possibly_damaging(0.695),1;KIAA1211,missense_variant,p.A657T,ENST00000541073,,c.1969G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.695),1;KIAA1211,missense_variant,p.A664T,ENST00000264229,NM_020722.1,c.1990G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.695),1;KIAA1211,upstream_gene_variant,,ENST00000514330,,,MODIFIER,,,,1;KIAA1211,downstream_gene_variant,,ENST00000505410,,,MODIFIER,,,,1	A	ENST00000264229	Transcript	missense_variant	missense_variant	2381/4109	1990/3702	664/1233	A/T	Gca/Aca		1		1	KIAA1211	HGNC	HGNC:29219	protein_coding		CCDS43230.1	ENSP00000264229	Q6ZU35		UPI0000237309	NM_020722.1	tolerated(0.09)	possibly_damaging(0.695)	8/11																			MODERATE		SNV	2			1											PASS	CGTCCGCACTC	f2940546-70db-495a-b7ff-7b59b86fd526	e5a15476-6c18-4a78-82dd-15ae1a5f6f1b	30d94476-8361-4837-9648-eb01226bfe4a	6103e640-8b62-4e39-908b-b62a0debeb0e		COSM1056242	False	Unknown	A	3	1	37	56315492	56315492	G	A	1	0	0	0	0	1	0	0	0	8107	1087	38	2		2	KIAA1211	4	56315492	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08		56315492	133899063	1	523											
SYNE1	23345	BI	GRCh38	chr6	152206341	152206341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtagctgccttgttgccGcagaaacactttttctttga	9	9	1	2	rs200236760	by1000G;byCluster	TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	c.22846C>T	p.Arg7616Trp	p.R7616W	ENST00000367255	126/146	67	63	4	49			SYNE1,missense_variant,p.R7616W,ENST00000367255,NM_182961.3,c.22846C>T,MODERATE,YES,,probably_damaging(0.986),-1;SYNE1,missense_variant,p.R7545W,ENST00000423061,NM_033071.3,c.22633C>T,MODERATE,,,probably_damaging(0.999),-1;SYNE1,missense_variant,p.R7211W,ENST00000341594,,c.21631C>T,MODERATE,,,benign(0.034),-1;SYNE1,missense_variant,p.R538W,ENST00000367251,,c.1612C>T,MODERATE,,deleterious(0),probably_damaging(0.963),-1;SYNE1,missense_variant,p.R262W,ENST00000367257,,c.784C>T,MODERATE,,deleterious(0),probably_damaging(0.982),-1;SYNE1,non_coding_transcript_exon_variant,,ENST00000367256,,n.6538C>T,MODIFIER,,,,-1;SYNE1,non_coding_transcript_exon_variant,,ENST00000409694,,n.6430C>T,MODIFIER,,,,-1	A	ENST00000367255	Transcript	missense_variant	missense_variant	23448/27748	22846/26394	7616/8797	R/W	Cgg/Tgg	rs200236760	1		-1	SYNE1	HGNC	HGNC:17089	protein_coding	YES	CCDS5236.2	ENSP00000356224	Q8NF91		UPI000204AF58	NM_182961.3		probably_damaging(0.986)	126/146		SMART_domains:SM00150;Superfamily_domains:SSF49758;Superfamily_domains:SSF90123	2e-04	0	0.0014		0	0	0	2e-04	0								MODERATE	1	SNV	1			1	2.471e-05	2.478e-05	0.000193	8.667e-05	0	0	0	0	0		PASS	TTGCCGCAGAA	f2940546-70db-495a-b7ff-7b59b86fd526	e5a15476-6c18-4a78-82dd-15ae1a5f6f1b	30d94476-8361-4837-9648-eb01226bfe4a	6103e640-8b62-4e39-908b-b62a0debeb0e		COSM1441295;COSM1441296;COSM1441297;COSM3410671;COSM3410672	True	Unknown	A	3	1	37	152206341	152206341	G	A	1	0	0	0	0	1	0	0	0	15837	1086	38	2		2	SYNE1	6	152206341	Missense_Mutation	SNP	G	TCGA-VD-A8K7-01B-11D-A39W-08		152206341	18599638	2	524											
CCDC126	90693	BI	GRCh38	chr7	23611407	23611407	+	Missense_Mutation	SNP	A	A	G													ttggggattgatgttactgcActatacttttcaacaaccaa					novel		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	c.92A>G	p.His31Arg	p.H31R	ENST00000307471	3/4	58	30	28	84			CCDC126,missense_variant,p.H31R,ENST00000307471,NM_138771.3,c.92A>G,MODERATE,YES,tolerated(0.76),benign(0.006),1;CCDC126,missense_variant,p.H31R,ENST00000409765,,c.92A>G,MODERATE,,tolerated(0.76),benign(0.006),1;CCDC126,missense_variant,p.H31R,ENST00000410069,,c.92A>G,MODERATE,,tolerated(0.76),benign(0.006),1;CCDC126,missense_variant,p.H31R,ENST00000448353,,c.92A>G,MODERATE,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000486109,,n.658A>G,MODIFIER,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000472407,,n.645A>G,MODIFIER,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000485233,,n.566A>G,MODIFIER,,,,1	G	ENST00000307471	Transcript	missense_variant	missense_variant	549/2473	92/423	31/140	H/R	cAc/cGc		1		1	CCDC126	HGNC	HGNC:22398	protein_coding	YES	CCDS5384.1	ENSP00000304355	Q96EE4	A0A024RA08	UPI0000048F13	NM_138771.3	tolerated(0.76)	benign(0.006)	3/4		Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	ACTGCACTATA	f2940546-70db-495a-b7ff-7b59b86fd526	e5a15476-6c18-4a78-82dd-15ae1a5f6f1b	30d94476-8361-4837-9648-eb01226bfe4a	6103e640-8b62-4e39-908b-b62a0debeb0e			True	Unknown	G	3	3	37	23611407	23611407	A	G	1	0	0	0	0	1	0	0	0	2454	159	6	4		4	CCDC126	7	23611407	Missense_Mutation	SNP	A	TCGA-VD-A8K7-01B-11D-A39W-08		23611407	135734566	3	525	7	2									
CCDC126	90693	BI	GRCh38	chr7	23611408	23611408	+	Silent	SNP	C	C	T													tggggattgatgttactgcaCtatacttttcaacaaccaag					novel		TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	c.93C>T	p.=	p.H31H	ENST00000307471	3/4	58	30	28	84			CCDC126,synonymous_variant,p.H31H,ENST00000307471,NM_138771.3,c.93C>T,LOW,YES,,,1;CCDC126,synonymous_variant,p.H31H,ENST00000409765,,c.93C>T,LOW,,,,1;CCDC126,synonymous_variant,p.H31H,ENST00000410069,,c.93C>T,LOW,,,,1;CCDC126,synonymous_variant,p.H31H,ENST00000448353,,c.93C>T,LOW,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000486109,,n.659C>T,MODIFIER,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000472407,,n.646C>T,MODIFIER,,,,1;CCDC126,non_coding_transcript_exon_variant,,ENST00000485233,,n.567C>T,MODIFIER,,,,1	T	ENST00000307471	Transcript	synonymous_variant	synonymous_variant	550/2473	93/423	31/140	H	caC/caT		1		1	CCDC126	HGNC	HGNC:22398	protein_coding	YES	CCDS5384.1	ENSP00000304355	Q96EE4	A0A024RA08	UPI0000048F13	NM_138771.3			3/4		Transmembrane_helices:Tmhmm																	LOW	1	SNV	1			1											PASS	CTGCACTATAC	f2940546-70db-495a-b7ff-7b59b86fd526	e5a15476-6c18-4a78-82dd-15ae1a5f6f1b	30d94476-8361-4837-9648-eb01226bfe4a	6103e640-8b62-4e39-908b-b62a0debeb0e			True	Unknown	T	2	4	37	23611408	23611408	C	T	1	0	0	0	0	0	0	0	1	2454	564	20	3		3	CCDC126	7	23611408	Silent	SNP	C	TCGA-VD-A8K7-01B-11D-A39W-08	1	23611408	135734565	4	526	7	2									
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8K7-01B-11D-A39W-08	TCGA-VD-A8K7-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2cd31500-8f90-468c-9218-ffecfe7ca7c5	59d2725d-aa29-48a0-ab04-5a5b3c1e62fe	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	77	46	31	86			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	f2940546-70db-495a-b7ff-7b59b86fd526	e5a15476-6c18-4a78-82dd-15ae1a5f6f1b	30d94476-8361-4837-9648-eb01226bfe4a	6103e640-8b62-4e39-908b-b62a0debeb0e		COSM28757	True	Unknown	A	3	1	37	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8K7-01B-11D-A39W-08		77794572	60600145	5	527											
PAX7	5081	BI	GRCh38	chr1	18703264	18703264	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcgccctccaaccacAtgaacccggtcagcaacggc	11	18	1	1	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.1123A>C	p.Met375Leu	p.M375L	ENST00000420770	7/9	48	31	17	86			PAX7,missense_variant,p.M375L,ENST00000420770,NM_001135254.1,c.1123A>C,MODERATE,,tolerated(0.05),benign(0.026),1;PAX7,missense_variant,p.M375L,ENST00000375375,NM_002584.2,c.1123A>C,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.042),1;PAX7,missense_variant,p.M373L,ENST00000400661,NM_013945.2,c.1117A>C,MODERATE,,deleterious_low_confidence(0.01),benign(0.036),1	C	ENST00000420770	Transcript	missense_variant	missense_variant	1206/5538	1123/1518	375/505	M/L	Atg/Ctg		1		1	PAX7	HGNC	HGNC:8621	protein_coding		CCDS44074.1	ENSP00000403389	P23759		UPI0000E1E6AE	NM_001135254.1	tolerated(0.05)	benign(0.026)	7/9		Pfam_domain:PF12360																	MODERATE		SNV	1			1											PASS	ACCACATGAAC	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	C	3	2	38	18703264	18703264	A	C	1	0	0	0	0	1	0	0	0	11569	217	8	5		5	PAX7	1	18703264	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		18703264	230253158	1	528											
SOX14	8403	BI	GRCh38	chr3	137765429	137765429	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaccctgcagcccccCgtcgcctacatcctcttccc	5	24	1	0	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.645C>G	p.=	p.P215P	ENST00000306087	1/1	15	5	10	42			SOX14,synonymous_variant,p.P215P,ENST00000306087,NM_004189.3,c.645C>G,LOW,YES,,,1	G	ENST00000306087	Transcript	synonymous_variant	synonymous_variant	1146/2055	645/723	215/240	P	ccC/ccG		1		1	SOX14	HGNC	HGNC:11193	protein_coding	YES	CCDS3094.1	ENSP00000305343	O95416		UPI0000000B2D	NM_004189.3			1/1																			LOW	1	SNV				1											PASS	CCCCCCGTCGC	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	G	2	3	38	137765429	137765429	C	G	1	0	0	0	0	0	0	0	1	15271	639	23	5		5	SOX14	3	137765429	Silent	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		137765429	60530130	2	529											
DROSHA	29102	BI	GRCh38	chr5	31526385	31526385	+	Frame_Shift_Del	DEL	T	T	-													tagggttgttctggaaactaTtaaaactgggaggtgggaag					novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.548delA	p.Asn183IlefsTer43	p.N183Ifs*43	ENST00000344624	2/33	45	21	24	55			DROSHA,frameshift_variant,p.N183Ifs*43,ENST00000511367,NM_013235.4,c.548delA,HIGH,YES,,,-1;DROSHA,frameshift_variant,p.N183Ifs*43,ENST00000344624,,c.548delA,HIGH,,,,-1;DROSHA,frameshift_variant,p.N183Ifs*43,ENST00000442743,,c.548delA,HIGH,,,,-1;DROSHA,frameshift_variant,p.N183Ifs*43,ENST00000513349,NM_001100412.1,c.548delA,HIGH,,,,-1;DROSHA,frameshift_variant,p.N13Ifs*43,ENST00000512076,,c.36delA,HIGH,,,,-1;DROSHA,frameshift_variant,p.N183Ifs*?,ENST00000507438,,c.548delA,HIGH,,,,-1;DROSHA,upstream_gene_variant,,ENST00000512302,,,MODIFIER,,,,-1;DROSHA,downstream_gene_variant,,ENST00000504361,,,MODIFIER,,,,-1	-	ENST00000344624	Transcript	frameshift_variant	frameshift_variant	595/5102	548/4125	183/1374	N/X	aAt/at		1		-1	DROSHA	HGNC	HGNC:17904	protein_coding		CCDS47195.1	ENSP00000339845	Q9NRR4		UPI0000134351				2/33		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099																	HIGH		deletion	1			1											PASS	AAACTATTAAAA	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	-	7	5	38	31526385	31526385	T	-	1	0	1	0	1	0	0	0	0	4584	1493	52	0		0	DROSHA	5	31526385	Frame_Shift_Del	DEL	T	TCGA-VD-A8K8-01A-11D-A39W-08		31526385	150011874	3	530											
TRIM4	89122	BI	GRCh38	chr7	99892240	99892240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatggccggaggcgtgagaCagaagaacaagaaaaggtgt	15	5	0	4	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.1426G>A	p.Val476Ile	p.V476I	ENST00000355947	7/7	61	43	18	92			TRIM4,missense_variant,p.V476I,ENST00000355947,NM_033017.3,c.1426G>A,MODERATE,YES,tolerated(0.3),benign(0.027),-1;TRIM4,missense_variant,p.V450I,ENST00000349062,NM_033091.2,c.1348G>A,MODERATE,,tolerated(0.29),benign(0.016),-1;TRIM4,intron_variant,,ENST00000447480,,c.545+10978G>A,MODIFIER,,,,-1	T	ENST00000355947	Transcript	missense_variant	missense_variant	1556/3383	1426/1503	476/500	V/I	Gtc/Atc		1		-1	TRIM4	HGNC	HGNC:16275	protein_coding	YES	CCDS5679.1	ENSP00000348216	Q9C037		UPI000013DA79	NM_033017.3	tolerated(0.3)	benign(0.027)	7/7		Pfam_domain:PF00622;Prints_domain:PR01407;PROSITE_profiles:PS50188;SMART_domains:SM00449;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1											PASS	TGAGACAGAAG	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	T	3	4	38	99892240	99892240	C	T	1	0	0	0	0	1	0	0	0	17004	478	17	3		3	TRIM4	7	99892240	Missense_Mutation	SNP	C	TCGA-VD-A8K8-01A-11D-A39W-08		99892240	59453733	4	531											
MYOF	26509	BI	GRCh38	chr10	93351691	93351691	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtcaaaaagttccaTgataactttgggtggattct	9	6	3	1	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.3637A>T	p.Met1213Leu	p.M1213L	ENST00000359263	33/54	75	45	30	97			MYOF,missense_variant,p.M1213L,ENST00000359263,NM_013451.3,c.3637A>T,MODERATE,YES,tolerated(0.45),benign(0.001),-1;MYOF,missense_variant,p.M1200L,ENST00000358334,NM_133337.2,c.3598A>T,MODERATE,,tolerated(0.42),benign(0),-1;MYOF,missense_variant,p.M588L,ENST00000463743,,c.1761A>T,MODERATE,,tolerated(0.45),benign(0),-1	A	ENST00000359263	Transcript	missense_variant	missense_variant	3637/6719	3637/6186	1213/2061	M/L	Atg/Ttg		1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3	tolerated(0.45)	benign(0.001)	33/54		Pfam_domain:PF00168;PROSITE_profiles:PS50004;SMART_domains:SM00239;Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1											PASS	TTCCATGATAA	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	A	3	1	38	93351691	93351691	T	A	1	0	0	0	0	1	0	0	0	10090	1464	51	5		5	MYOF	10	93351691	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08		93351691	40445731	5	532											
ANKK1	255239	BI	GRCh38	chr11	113399341	113399341	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggcctgtgtggatgcccagGaacgtgaagggtggacccct	17	10	0	1	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.1372G>T	p.Glu458Ter	p.E458*	ENST00000303941	8/8	7	4	3	10			ANKK1,stop_gained,p.E458*,ENST00000303941,NM_178510.1,c.1372G>T,HIGH,YES,,,1;ANKK1,downstream_gene_variant,,ENST00000542948,,,MODIFIER,,,,1	T	ENST00000303941	Transcript	stop_gained	stop_gained	1466/2543	1372/2298	458/765	E/*	Gaa/Taa		1		1	ANKK1	HGNC	HGNC:21027	protein_coding	YES	CCDS44734.1	ENSP00000306678	Q8NFD2		UPI000000DCCF	NM_178510.1			8/8		PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;Superfamily_domains:SSF48403																	HIGH	1	SNV	1			1											PASS	CCCAGGAACGT	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	T	4	4	38	113399341	113399341	G	T	1	0	0	0	0	0	1	0	0	732	1175	41	5		5	ANKK1	11	113399341	Nonsense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		113399341	21687281	6	533											
OR10G4	390264	BI	GRCh38	chr11	124016167	124016167	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccaacgtgatggtcaTctttgtggacattgggatag	12	8	3	1	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.593T>C	p.Ile198Thr	p.I198T	ENST00000320891	1/1	94	44	50	134			OR10G4,missense_variant,p.I198T,ENST00000320891,NM_001004462.1,c.593T>C,MODERATE,YES,tolerated(1),possibly_damaging(0.861),1	C	ENST00000320891	Transcript	missense_variant	missense_variant	593/936	593/936	198/311	I/T	aTc/aCc		1		1	OR10G4	HGNC	HGNC:14809	protein_coding	YES	CCDS31702.1	ENSP00000325076	Q8NGN3		UPI0000041BAD	NM_001004462.1	tolerated(1)	possibly_damaging(0.861)	1/1		Pfam_domain:PF00001;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	GGTCATCTTTG	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	C	3	2	38	124016167	124016167	T	C	1	0	0	0	0	1	0	0	0	10977	1435	50	4		4	OR10G4	11	124016167	Missense_Mutation	SNP	T	TCGA-VD-A8K8-01A-11D-A39W-08	10616826	124016167	11070455	7	534											
GRIN2B	2904	BI	GRCh38	chr12	13564156	13564156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgtgcttggaggaggGgaggccgatgtccaggggct	20	8	0	0	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.3082C>T	p.Pro1028Ser	p.P1028S	ENST00000609686	13/13	40	26	14	40			GRIN2B,missense_variant,p.P1028S,ENST00000609686,NM_000834.3,c.3082C>T,MODERATE,YES,deleterious(0.04),benign(0.248),-1;GRIN2B,non_coding_transcript_exon_variant,,ENST00000628166,,n.1342C>T,MODIFIER,,,,-1	A	ENST00000609686	Transcript	missense_variant	missense_variant	3536/30355	3082/4455	1028/1484	P/S	Ccc/Tcc		1		-1	GRIN2B	HGNC	HGNC:4586	protein_coding	YES	CCDS8662.1	ENSP00000477455	Q13224		UPI000013026C	NM_000834.3	deleterious(0.04)	benign(0.248)	13/13		Pfam_domain:PF10565																	MODERATE	1	SNV	1			1											panel_of_normals	GGAGGGGAGGC	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e	gdc_pon		True	Unknown	A	3	1	38	13564156	13564156	G	A	1	0	0	0	0	1	0	0	0	6662	1232	43	3		3	GRIN2B	12	13564156	Missense_Mutation	SNP	G	TCGA-VD-A8K8-01A-11D-A39W-08		13564156	119711153	8	535											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	45	24	21	73			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e		COSM52969	True	Unknown	T	3	4	38	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		3118944	55498672	9	536											
UPK1A	11045	BI	GRCh38	chr19	35673469	35673469	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccatccctgatcaccaagcAgatgctgaccttctacagcg	7	16	2	3	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.392A>T	p.Gln131Leu	p.Q131L	ENST00000222275	4/7	45	28	17	48			UPK1A,missense_variant,p.Q131L,ENST00000616789,NM_001281443.1,c.392A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.885),1;UPK1A,missense_variant,p.Q131L,ENST00000617999,NM_007000.3,c.392A>T,MODERATE,,deleterious(0),possibly_damaging(0.597),1;UPK1A,missense_variant,p.Q131L,ENST00000222275,,c.392A>T,MODERATE,,deleterious(0),possibly_damaging(0.597),1;UPK1A,missense_variant,p.Q131L,ENST00000379013,,c.392A>T,MODERATE,,deleterious(0),possibly_damaging(0.885),1;UPK1A-AS1,upstream_gene_variant,,ENST00000443196,,,MODIFIER,YES,,,-1	T	ENST00000222275	Transcript	missense_variant	missense_variant	392/1223	392/777	131/258	Q/L	cAg/cTg		1		1	UPK1A	HGNC	HGNC:12577	protein_coding		CCDS12470.1	ENSP00000222275	O00322		UPI0000137CD9		deleterious(0)	possibly_damaging(0.597)	4/7		Pfam_domain:PF00335;Superfamily_domains:SSF48652																	MODERATE		SNV	1			1											PASS	CAAGCAGATGC	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	T	3	4	38	35673469	35673469	A	T	1	0	0	0	0	1	0	0	0	17533	188	7	5		5	UPK1A	19	35673469	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08	32554525	35673469	22944147	10	537											
SGSM1	129049	BI	GRCh38	chr22	24850335	24850335	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgccgaagctgcccAacttgtccccacttgccatc	9	16	0	0	novel		TCGA-VD-A8K8-01A-11D-A39W-08	TCGA-VD-A8K8-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	68db916e-ad05-47dc-9a78-2ea29d299732	db6a4a82-2ba2-4d1c-92e6-12fd9418c4e6	c.358A>T	p.Asn120Tyr	p.N120Y	ENST00000400359	5/26	15	8	7	20			SGSM1,missense_variant,p.N120Y,ENST00000400358,NM_001098497.1,c.358A>T,MODERATE,,tolerated(0.39),benign(0.019),1;SGSM1,missense_variant,p.N120Y,ENST00000610372,NM_001098498.1&NM_133454.2,c.358A>T,MODERATE,,tolerated(0.23),benign(0.012),1;SGSM1,missense_variant,p.N120Y,ENST00000400359,NM_001039948.2,c.358A>T,MODERATE,YES,tolerated(0.14),benign(0.2),1;SGSM1,non_coding_transcript_exon_variant,,ENST00000473458,,n.1732A>T,MODIFIER,,,,1;SGSM1,non_coding_transcript_exon_variant,,ENST00000480523,,n.451A>T,MODIFIER,,,,1	T	ENST00000400359	Transcript	missense_variant	missense_variant	365/4317	358/3447	120/1148	N/Y	Aac/Tac		1		1	SGSM1	HGNC	HGNC:29410	protein_coding	YES	CCDS46674.1	ENSP00000383212	Q2NKQ1		UPI00006EB130	NM_001039948.2	tolerated(0.14)	benign(0.2)	5/26		Pfam_domain:PF02759;PROSITE_profiles:PS50826;Superfamily_domains:SSF140741																	MODERATE	1	SNV	5			1											PASS	TGCCCAACTTG	a656641d-94a4-4bbc-b661-e3bce41ffaa2	f8aa6c65-41a0-4801-9de2-562bd09e8951	3792f902-9a1e-40fd-9858-38eaaf8fdb53	9b1ecfb2-9dfb-4e71-b51a-d2a0c5a7940e			True	Unknown	T	3	4	38	24850335	24850335	A	T	1	0	0	0	0	1	0	0	0	14480	130	5	5		5	SGSM1	22	24850335	Missense_Mutation	SNP	A	TCGA-VD-A8K8-01A-11D-A39W-08		24850335	25968133	11	538											
LCE4A	199834	BI	GRCh38	chr1	152709372	152709372	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggagggggctgttgCtgacctggaccaggagcagc	17	10	1	1	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.297C>T	p.=	p.C99C	ENST00000335535	1/1	39	13	26	35			LCE4A,synonymous_variant,p.C99C,ENST00000368777,,c.297C>T,LOW,YES,,,1;LCE4A,synonymous_variant,p.C99C,ENST00000335535,NM_178356.3,c.297C>T,LOW,,,,1	T	ENST00000335535	Transcript	synonymous_variant	synonymous_variant	326/388	297/300	99/99	C	tgC/tgT		1		1	LCE4A	HGNC	HGNC:16613	protein_coding		CCDS1022.1	ENSP00000335223	Q5TA78		UPI0000192763	NM_178356.3			1/1		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50311																	LOW		SNV				1											PASS	TGTTGCTGACC	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			True	Unknown	T	2	4	39	152709372	152709372	C	T	1	0	0	0	0	0	0	0	1	8579	805	28	3		3	LCE4A	1	152709372	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		152709372	96247050	1	539											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	36	17	19	54			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121		COSM110696	True	Unknown	A	3	1	39	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		197402760	44790769	2	540											
ARID1B	57492	BI	GRCh38	chr6	156901491	156901491	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccaggcgcagtatctgcCgtcccagtcccagcagaggt	11	16	1	1	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.1853C>A	p.Pro618Gln	p.P618Q	ENST00000350026	3/19	9	0	9	25			ARID1B,missense_variant,p.P631Q,ENST00000346085,NM_020732.3,c.1892C>A,MODERATE,YES,,benign(0.041),1;ARID1B,missense_variant,p.P618Q,ENST00000350026,NM_017519.2,c.1853C>A,MODERATE,,,benign(0.009),1;ARID1B,missense_variant,p.P117Q,ENST00000414678,,c.350C>A,MODERATE,,tolerated_low_confidence(0.21),benign(0.022),1;ARID1B,missense_variant,p.P40Q,ENST00000319584,,c.119C>A,MODERATE,,tolerated_low_confidence(0.16),probably_damaging(0.946),1	A	ENST00000350026	Transcript	missense_variant	missense_variant	1854/7971	1853/6711	618/2236	P/Q	cCg/cAg		1		1	ARID1B	HGNC	HGNC:18040	protein_coding		CCDS5251.2	ENSP00000055163	Q8NFD5		UPI000058E2EA	NM_017519.2		benign(0.009)	3/19		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50322;PROSITE_profiles:PS50099																	MODERATE		SNV	1			1											PASS	TCTGCCGTCCC	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			True	Unknown	A	3	1	39	156901491	156901491	C	A	1	0	0	0	0	1	0	0	0	1050	652	23	5		5	ARID1B	6	156901491	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		156901491	13904488	3	541											
LRRN3	54674	BI	GRCh38	chr7	111123630	111123630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagcaatatgctacacttAaaagagttggggataaataa	8	4	0	1	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.858A>G	p.=	p.L286L	ENST00000308478	3/3	54	30	24	62			LRRN3,synonymous_variant,p.L286L,ENST00000451085,NM_001099660.1,c.858A>G,LOW,YES,,,1;LRRN3,synonymous_variant,p.L286L,ENST00000422987,NM_018334.4,c.858A>G,LOW,,,,1;LRRN3,synonymous_variant,p.L286L,ENST00000308478,NM_001099658.1,c.858A>G,LOW,,,,1;IMMP2L,intron_variant,,ENST00000405709,NM_032549.3,c.240-160065T>C,MODIFIER,YES,,,-1;IMMP2L,intron_variant,,ENST00000331762,NM_001244606.1,c.240-160065T>C,MODIFIER,,,,-1;IMMP2L,intron_variant,,ENST00000447215,,c.240-160065T>C,MODIFIER,,,,-1;IMMP2L,intron_variant,,ENST00000452895,,c.240-160065T>C,MODIFIER,,,,-1;IMMP2L,intron_variant,,ENST00000450877,,c.186-160065T>C,MODIFIER,,,,-1;LRRN3,downstream_gene_variant,,ENST00000421101,,,MODIFIER,,,,1;IMMP2L,intron_variant,,ENST00000489381,,n.181-160065T>C,MODIFIER,,,,-1	G	ENST00000308478	Transcript	synonymous_variant	synonymous_variant	1797/3099	858/2127	286/708	L	ttA/ttG		1		1	LRRN3	HGNC	HGNC:17200	protein_coding		CCDS5754.1	ENSP00000312001	Q9H3W5	A4D0T1	UPI0000037517	NM_001099658.1			3/3		Superfamily_domains:SSF52058																	LOW		SNV	1			1											PASS	CACTTAAAAGA	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			True	Unknown	G	2	3	39	111123630	111123630	A	G	1	0	0	0	0	0	0	0	1	8942	359	13	4		4	LRRN3	7	111123630	Silent	SNP	A	TCGA-VD-A8K9-01A-11D-A39W-08		111123630	48222343	4	542											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	85	48	37	91			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121		COSM28758	True	Unknown	G	3	3	39	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		77794572	60600145	5	543											
PPP2R1B	5519	BI	GRCh38	chr11	111765340	111765340	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcctttctactccaagTgctagggcaattgttgataa	10	9	1	1	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.159A>G	p.=	p.A53A	ENST00000527614	2/15	123	63	60	155			PPP2R1B,synonymous_variant,p.A53A,ENST00000527614,NM_002716.4,c.159A>G,LOW,,,,-1;PPP2R1B,synonymous_variant,p.A53A,ENST00000311129,NM_181699.2,c.159A>G,LOW,YES,,,-1;PPP2R1B,synonymous_variant,p.A53A,ENST00000341980,NM_001177562.1,c.159A>G,LOW,,,,-1;PPP2R1B,synonymous_variant,p.A53A,ENST00000393055,NM_001177563.1,c.159A>G,LOW,,,,-1;PPP2R1B,synonymous_variant,p.A38A,ENST00000531373,,c.114A>G,LOW,,,,-1;PPP2R1B,intron_variant,,ENST00000426998,NM_181700.1,c.114+908A>G,MODIFIER,,,,-1;RP11-108O10.2,downstream_gene_variant,,ENST00000529841,,,MODIFIER,YES,,,-1;RP11-108O10.2,downstream_gene_variant,,ENST00000534218,,,MODIFIER,,,,-1;PPP2R1B,synonymous_variant,p.A53A,ENST00000534521,,c.159A>G,LOW,,,,-1;PPP2R1B,synonymous_variant,p.A53A,ENST00000534500,,c.159A>G,LOW,,,,-1	C	ENST00000527614	Transcript	synonymous_variant	synonymous_variant	225/5587	159/1806	53/601	A	gcA/gcG		1		-1	PPP2R1B	HGNC	HGNC:9303	protein_coding		CCDS8349.1	ENSP00000437193	P30154			NM_002716.4			2/15		PROSITE_profiles:PS50077;Superfamily_domains:SSF48371																	LOW		SNV	1			1											PASS	CCAAGTGCTAG	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			True	Unknown	C	2	2	39	111765340	111765340	T	C	1	0	0	0	0	0	0	0	1	12506	1683	59	4		4	PPP2R1B	11	111765340	Silent	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		111765340	23321282	6	544											
CYP1A1	1543	BI	GRCh38	chr15	74722854	74722854	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgctcagcaccaccacggGtgtggagccaattcggatct	12	14	2	0			TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.244C>A	p.Pro82Thr	p.P82T	ENST00000379727	2/7	32	15	17	51			CYP1A1,missense_variant,p.P82T,ENST00000379727,,c.244C>A,MODERATE,YES,tolerated(0.05),probably_damaging(0.998),-1;CYP1A1,missense_variant,p.P82T,ENST00000395048,NM_000499.3,c.244C>A,MODERATE,,tolerated(0.05),probably_damaging(0.998),-1;CYP1A1,missense_variant,p.P82T,ENST00000617691,,c.244C>A,MODERATE,,deleterious(0.05),probably_damaging(0.999),-1;CYP1A1,missense_variant,p.P82T,ENST00000612821,,c.244C>A,MODERATE,,tolerated(0.06),probably_damaging(0.951),-1;CYP1A1,missense_variant,p.P82T,ENST00000567032,,c.244C>A,MODERATE,,tolerated(0.05),probably_damaging(0.998),-1;CYP1A1,missense_variant,p.P82T,ENST00000395049,,c.244C>A,MODERATE,,deleterious(0.05),probably_damaging(0.999),-1;CYP1A1,intron_variant,,ENST00000564596,,c.-220-320C>A,MODIFIER,,,,-1;CYP1A1,intron_variant,,ENST00000566503,,c.-220-320C>A,MODIFIER,,,,-1;CYP1A1,missense_variant,p.P82T,ENST00000569630,,c.244C>A,MODERATE,,deleterious(0.03),possibly_damaging(0.724),-1;CYP1A1,missense_variant,p.P82T,ENST00000562201,,c.244C>A,MODERATE,,deleterious(0.03),possibly_damaging(0.724),-1	T	ENST00000379727	Transcript	missense_variant	missense_variant	443/2685	244/1539	82/512	P/T	Ccc/Acc		1		-1	CYP1A1	HGNC	HGNC:2595	protein_coding	YES	CCDS10268.1	ENSP00000369050	P04798	A0N0X8	UPI0000128195		tolerated(0.05)	probably_damaging(0.998)	2/7		Pfam_domain:PF00067;Prints_domain:PR00463;Prints_domain:PR00465;Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1											PASS	CACGGGTGTGG	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121		COSM4776912	True	Unknown	T	3	4	39	74722854	74722854	G	T	1	0	0	0	0	1	0	0	0	3952	1261	44	5		5	CYP1A1	15	74722854	Missense_Mutation	SNP	G	TCGA-VD-A8K9-01A-11D-A39W-08		74722854	27268335	7	545											
AKAP13	11214	BI	GRCh38	chr15	85581803	85581803	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacctctgcctaagggggcAgacttgatagaggaggctgc	15	10	1	3	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.3735A>G	p.=	p.A1245A	ENST00000394518	7/37	31	23	8	44			AKAP13,synonymous_variant,p.A1245A,ENST00000394518,NM_007200.4,c.3735A>G,LOW,,,,1;AKAP13,synonymous_variant,p.A1245A,ENST00000361243,NM_006738.5,c.3735A>G,LOW,YES,,,1;AKAP13,synonymous_variant,p.A1245A,ENST00000559362,,c.3735A>G,LOW,,,,1;AKAP13,downstream_gene_variant,,ENST00000558166,,,MODIFIER,,,,1;AKAP13,upstream_gene_variant,,ENST00000560340,,,MODIFIER,,,,1;AKAP13,downstream_gene_variant,,ENST00000558811,,,MODIFIER,,,,1;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,,,MODIFIER,YES,,,-1	G	ENST00000394518	Transcript	synonymous_variant	synonymous_variant	3830/13215	3735/8442	1245/2813	A	gcA/gcG		1		1	AKAP13	HGNC	HGNC:371	protein_coding		CCDS32319.1	ENSP00000378026	Q12802		UPI0000167BA0	NM_007200.4			7/37																			LOW		SNV	1			1											PASS	GGGGCAGACTT	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			False	Unknown	G	2	3	39	85581803	85581803	A	G	1	0	0	0	0	0	0	0	1	532	175	7	4		4	AKAP13	15	85581803	Silent	SNP	A	TCGA-VD-A8K9-01A-11D-A39W-08	10858949	85581803	16409386	8	546											
WDR90	197335	BI	GRCh38	chr16	658649	658649	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggccagcccaggccCccaggtgtgtgcgtggggag	16	14	0	0	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.2891C>G	p.Pro964Arg	p.P964R	ENST00000293879	23/41	25	15	10	31			WDR90,missense_variant,p.P964R,ENST00000549091,,c.2891C>G,MODERATE,,tolerated(0.34),possibly_damaging(0.637),1;WDR90,missense_variant,p.P964R,ENST00000293879,NM_145294.4,c.2891C>G,MODERATE,YES,tolerated(0.35),possibly_damaging(0.522),1;MSLN,intron_variant,,ENST00000620831,,c.-50+15346C>G,MODIFIER,,,,1;WDR90,downstream_gene_variant,,ENST00000615333,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000550739,,,MODIFIER,,,,1;LA16c-349E10.1,upstream_gene_variant,,ENST00000573609,,,MODIFIER,YES,,,-1;WDR90,intron_variant,,ENST00000548844,,n.55+35C>G,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000547543,,,MODIFIER,,,,1;WDR90,downstream_gene_variant,,ENST00000552648,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000548603,,,MODIFIER,,,,1;WDR90,missense_variant,p.P269R,ENST00000552728,,c.806C>G,MODERATE,,tolerated(0.35),possibly_damaging(0.547),1;WDR90,non_coding_transcript_exon_variant,,ENST00000552943,,n.4973C>G,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000547407,,n.869C>G,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000546516,,n.1584C>G,MODIFIER,,,,1;WDR90,non_coding_transcript_exon_variant,,ENST00000552683,,n.322C>G,MODIFIER,,,,1;WDR90,downstream_gene_variant,,ENST00000549648,,,MODIFIER,,,,1;WDR90,downstream_gene_variant,,ENST00000420061,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000549024,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000546923,,,MODIFIER,,,,1;WDR90,downstream_gene_variant,,ENST00000548859,,,MODIFIER,,,,1;WDR90,upstream_gene_variant,,ENST00000550902,,,MODIFIER,,,,1	G	ENST00000293879	Transcript	missense_variant	missense_variant	2891/5488	2891/5247	964/1748	P/R	cCc/cGc		1		1	WDR90	HGNC	HGNC:26960	protein_coding	YES	CCDS42092.1	ENSP00000293879	Q96KV7			NM_145294.4	tolerated(0.35)	possibly_damaging(0.522)	23/41		SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE		SNV	5			1											panel_of_normals	AGGCCCCCAGG	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121	gdc_pon		True	Unknown	G	3	3	39	658649	658649	C	G	1	0	0	0	0	1	0	0	0	17893	637	22	5		5	WDR90	16	658649	Missense_Mutation	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		658649	89679696	9	547											
WTIP	126374	BI	GRCh38	chr19	34500144	34500144	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctaggactgcgggctgcagCtgagcggggaggagggacgc	20	10	0	1	rs370782319	byCluster	TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.1168C>T	p.=	p.L390L	ENST00000590071	8/8	23	18	5	34			WTIP,synonymous_variant,p.L390L,ENST00000590071,NM_001080436.1,c.1168C>T,LOW,YES,,,1;WTIP,downstream_gene_variant,,ENST00000585928,,,MODIFIER,,,,1	T	ENST00000590071	Transcript	synonymous_variant	synonymous_variant	1505/13665	1168/1293	390/430	L	Ctg/Ttg	rs370782319	1		1	WTIP	HGNC	HGNC:20964	protein_coding	YES	CCDS59375.1	ENSP00000466953	A6NIX2		UPI00006C19C5	NM_001080436.1			8/8		Pfam_domain:PF00412;PROSITE_profiles:PS50023;SMART_domains:SM00132								0	1e-04								LOW	1	SNV	2			1	8.256e-06	8.73e-06	0	0	0	0	1.566e-05	0	0		PASS	TGCAGCTGAGC	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121		COSM4076862;COSM4076863	True	Unknown	T	2	4	39	34500144	34500144	C	T	1	0	0	0	0	0	0	0	1	17968	796	28	3		3	WTIP	19	34500144	Silent	SNP	C	TCGA-VD-A8K9-01A-11D-A39W-08		34500144	24117472	10	548											
CERK	64781	BI	GRCh38	chr22	46691774	46691774	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgacttgccactcctccacgTcctctgaagcacaaagaacc	6	17	1	2	novel		TCGA-VD-A8K9-01A-11D-A39W-08	TCGA-VD-A8K9-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	23cbfdd9-1deb-402a-968c-6cf0fb8d5e4a	bd4e9dce-2a02-49c6-9d80-616cd900626b	c.1130A>G	p.Asp377Gly	p.D377G	ENST00000216264	11/13	31	28	3	24			CERK,missense_variant,p.D377G,ENST00000216264,NM_022766.5,c.1130A>G,MODERATE,YES,tolerated(0.14),benign(0.002),-1;CERK,non_coding_transcript_exon_variant,,ENST00000471929,,n.219A>G,MODIFIER,,,,-1;CERK,3_prime_UTR_variant,,ENST00000443629,,c.*508A>G,MODIFIER,,,,-1	C	ENST00000216264	Transcript	missense_variant	missense_variant	1243/4450	1130/1614	377/537	D/G	gAc/gGc		1		-1	CERK	HGNC	HGNC:19256	protein_coding	YES	CCDS14077.1	ENSP00000216264	Q8TCT0	A0A024R4U8	UPI000004BBBD	NM_022766.5	tolerated(0.14)	benign(0.002)	11/13																			MODERATE	1	SNV	1			1											PASS	CCACGTCCTCT	7c45a53e-720a-4992-94a2-f6d8574f5690	964b182c-c84c-45c8-8af6-d81c5327a46c	307c987b-87e6-4bc1-9756-2af84b992101	fa9089fa-9af9-4932-8ab7-0e7f2fd6b121			False	Unknown	C	3	2	39	46691774	46691774	T	C	1	0	0	0	0	1	0	0	0	2993	1681	58	4		4	CERK	22	46691774	Missense_Mutation	SNP	T	TCGA-VD-A8K9-01A-11D-A39W-08		46691774	4126694	11	549											
LCE3D	84648	BI	GRCh38	chr1	152579792	152579792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttcaggaagcagccgccctCggagctagggccacagcccc	13	16	1	0	rs201921868	byCluster	TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.145G>A	p.Glu49Lys	p.E49K	ENST00000368787	2/2	85	56	29	67			LCE3D,missense_variant,p.E49K,ENST00000368787,NM_032563.1,c.145G>A,MODERATE,YES,tolerated_low_confidence(0.09),unknown(0),-1;LCE3C,intron_variant,,ENST00000617545,,c.45-20999C>T,MODIFIER,,,,1	T	ENST00000368787	Transcript	missense_variant	missense_variant	202/613	145/279	49/92	E/K	Gag/Aag	rs201921868	1		-1	LCE3D	HGNC	HGNC:16615	protein_coding	YES	CCDS1014.1	ENSP00000357776	Q9BYE3		UPI000006EC48	NM_032563.1	tolerated_low_confidence(0.09)	unknown(0)	2/2		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	1.648e-05	1.651e-05	0	0	0	0	3.001e-05	0	0		PASS	GCCCTCGGAGC	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221		COSM1256369	True	Unknown	T	3	4	40	152579792	152579792	C	T	1	0	0	0	0	1	0	0	0	8577	893	31	2		2	LCE3D	1	152579792	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		152579792	96376630	1	550											
SELE	6401	BI	GRCh38	chr1	169729197	169729197	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caagcttaccttcacaaactGggatttgctgtgtccactgc	8	12	1	0	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.1079C>A	p.Pro360Gln	p.P360Q	ENST00000333360	7/14	60	38	22	52			SELE,missense_variant,p.P360Q,ENST00000333360,NM_000450.2,c.1079C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SELE,missense_variant,p.P360Q,ENST00000367777,,c.1079C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;SELE,missense_variant,p.P360Q,ENST00000367776,,c.1079C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;SELE,missense_variant,p.P298Q,ENST00000367775,,c.893C>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;SELE,missense_variant,p.P360Q,ENST00000367774,,c.1079C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;SELE,downstream_gene_variant,,ENST00000609271,,,MODIFIER,,,,-1;C1orf112,intron_variant,,ENST00000498289,,n.851+45265G>T,MODIFIER,,,,1;SELE,downstream_gene_variant,,ENST00000461085,,,MODIFIER,,,,-1	T	ENST00000333360	Transcript	missense_variant	missense_variant	1219/3857	1079/1833	360/610	P/Q	cCa/cAa		1		-1	SELE	HGNC	HGNC:10718	protein_coding	YES	CCDS1283.1	ENSP00000331736	P16581		UPI000012E44A	NM_000450.2	deleterious(0)	probably_damaging(1)	7/14		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1											PASS	AAACTGGGATT	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	T	3	4	40	169729197	169729197	G	T	1	0	0	0	0	1	0	0	0	14290	1348	47	5		5	SELE	1	169729197	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	17149405	169729197	79227225	2	551											
EHD3	30845	BI	GRCh38	chr2	31261636	31261636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagctggtcaacaacCtggccgagatctatggccgg	14	10	2	2	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.1003C>G	p.Leu335Val	p.L335V	ENST00000322054	5/6	224	98	126	121			EHD3,missense_variant,p.L335V,ENST00000322054,NM_014600.2,c.1003C>G,MODERATE,YES,deleterious(0),probably_damaging(0.967),1;EHD3,missense_variant,p.L335V,ENST00000541626,,c.1003C>G,MODERATE,,deleterious(0),probably_damaging(0.916),1	G	ENST00000322054	Transcript	missense_variant	missense_variant	1288/4636	1003/1608	335/535	L/V	Ctg/Gtg		1		1	EHD3	HGNC	HGNC:3244	protein_coding	YES	CCDS1774.1	ENSP00000327116	Q9NZN3		UPI0000140D07	NM_014600.2	deleterious(0)	probably_damaging(0.967)	5/6																			MODERATE	1	SNV	1			1											PASS	ACAACCTGGCC	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	G	3	3	40	31261636	31261636	C	G	1	0	0	0	0	1	0	0	0	4815	680	24	5		5	EHD3	2	31261636	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		31261636	210931893	3	552											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	56	25	31	61			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221		COSM110696	True	Unknown	A	3	1	40	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	166141124	197402760	44790769	4	553											
ARID1B	57492	BI	GRCh38	chr6	157206397	157206397	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gaggatgaggaggaagacagCgagaagacagaaagcgatga	17	4	0	6	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.5217C>G	p.Ser1739Arg	p.S1739R	ENST00000350026	19/19	99	94	5	133			ARID1B,missense_variant,p.S1752R,ENST00000346085,NM_020732.3,c.5256C>G,MODERATE,YES,,benign(0.129),1;ARID1B,missense_variant,p.S1739R,ENST00000350026,NM_017519.2,c.5217C>G,MODERATE,,,benign(0.014),1;ARID1B,missense_variant,p.S1261R,ENST00000414678,,c.3783C>G,MODERATE,,tolerated(0.25),benign(0.025),1	G	ENST00000350026	Transcript	missense_variant	missense_variant	5218/7971	5217/6711	1739/2236	S/R	agC/agG		1		1	ARID1B	HGNC	HGNC:18040	protein_coding		CCDS5251.2	ENSP00000055163	Q8NFD5		UPI000058E2EA	NM_017519.2		benign(0.014)	19/19		Low_complexity_(Seg):Seg;Coiled-coils_(Ncoils):ncoils																	MODERATE		SNV	1			1											PASS	GACAGCGAGAA	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			False	Unknown	G	3	3	40	157206397	157206397	C	G	1	0	0	0	0	1	0	0	0	1050	767	27	5		5	ARID1B	6	157206397	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		157206397	13599582	5	554											
PAG1	55824	BI	GRCh38	chr8	80976771	80976771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctttaacagtagcatagaGatcattacaggaggagggtg	13	5	2	1	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.1072C>T	p.Leu358Phe	p.L358F	ENST00000220597	9/9	117	104	13	60			PAG1,missense_variant,p.L358F,ENST00000220597,NM_018440.3,c.1072C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PAG1,upstream_gene_variant,,ENST00000523463,,,MODIFIER,,,,-1	A	ENST00000220597	Transcript	missense_variant	missense_variant	1783/10744	1072/1299	358/432	L/F	Ctc/Ttc		1		-1	PAG1	HGNC	HGNC:30043	protein_coding	YES	CCDS6227.1	ENSP00000220597	Q9NWQ8		UPI0000072E56	NM_018440.3	deleterious(0)	probably_damaging(0.999)	9/9																			MODERATE	1	SNV	2			1											PASS	ATAGAGATCAT	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	A	3	1	40	80976771	80976771	G	A	1	0	0	0	0	1	0	0	0	11466	942	33	3		3	PAG1	8	80976771	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		80976771	64161865	6	555											
GLIS3	169792	BI	GRCh38	chr9	4125772	4125772	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atattcaggttggctgcattCattgccctctgtaagctagg	10	9	3	0	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.93G>T	p.Met31Ile	p.M31I	ENST00000324333	2/10	160	90	70	106			GLIS3,missense_variant,p.M31I,ENST00000324333,NM_152629.3,c.93G>T,MODERATE,,deleterious(0.03),benign(0),-1;GLIS3,missense_variant,p.M186I,ENST00000381971,NM_001042413.1,c.558G>T,MODERATE,YES,tolerated(0.22),benign(0.002),-1;GLIS3,missense_variant,p.M186I,ENST00000477901,,c.558G>T,MODERATE,,tolerated(0.21),benign(0.001),-1;GLIS3,missense_variant,p.M186I,ENST00000481827,,c.558G>T,MODERATE,,tolerated(0.21),benign(0.001),-1;GLIS3,missense_variant,p.M31I,ENST00000462164,,c.93G>T,MODERATE,,deleterious(0.03),benign(0),-1;GLIS3,missense_variant,p.M31I,ENST00000478315,,c.93G>T,MODERATE,,deleterious(0.03),benign(0),-1;GLIS3,missense_variant,p.M31I,ENST00000478844,,c.93G>T,MODERATE,,deleterious(0.03),benign(0),-1;GLIS3,intron_variant,,ENST00000490709,,n.417-6891G>T,MODIFIER,,,,-1;GLIS3,intron_variant,,ENST00000473846,,n.356-6891G>T,MODIFIER,,,,-1;GLIS3,intron_variant,,ENST00000491889,,c.389-6891G>T,MODIFIER,,,,-1	A	ENST00000324333	Transcript	missense_variant	missense_variant	287/6667	93/2328	31/775	M/I	atG/atT		1		-1	GLIS3	HGNC	HGNC:28510	protein_coding		CCDS6451.1	ENSP00000325494	Q8NEA6		UPI00003675FE	NM_152629.3	deleterious(0.03)	benign(0)	2/10																			MODERATE		SNV	1			1											PASS	GCATTCATTGC	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	A	3	1	40	4125772	4125772	C	A	1	0	0	0	0	1	0	0	0	6325	826	29	5		5	GLIS3	9	4125772	Missense_Mutation	SNP	C	TCGA-VD-A8KA-01B-11D-A39W-08		4125772	134268945	7	556											
GBA2	57704	BI	GRCh38	chr9	35741707	35741707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatgggtgtgatctgacGgcaggtgagggtgacattct	16	6	2	5	rs762730206	byCluster	TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.751C>T	p.Arg251Cys	p.R251C	ENST00000378103	4/17	155	77	78	112			GBA2,missense_variant,p.R251C,ENST00000378094,,c.751C>T,MODERATE,,deleterious(0),probably_damaging(0.979),-1;GBA2,missense_variant,p.R251C,ENST00000378103,NM_020944.2,c.751C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;CREB3,downstream_gene_variant,,ENST00000613913,,,MODIFIER,,,,1;CREB3,downstream_gene_variant,,ENST00000353704,NM_006368.4,,MODIFIER,YES,,,1;GBA2,upstream_gene_variant,,ENST00000378088,,,MODIFIER,,,,-1;GBA2,non_coding_transcript_exon_variant,,ENST00000467252,,n.323C>T,MODIFIER,,,,-1;GBA2,non_coding_transcript_exon_variant,,ENST00000485259,,n.330C>T,MODIFIER,,,,-1;CREB3,downstream_gene_variant,,ENST00000486056,,,MODIFIER,,,,1;GBA2,downstream_gene_variant,,ENST00000489025,,,MODIFIER,,,,-1;GBA2,upstream_gene_variant,,ENST00000486797,,,MODIFIER,,,,-1;GBA2,upstream_gene_variant,,ENST00000488292,,,MODIFIER,,,,-1	A	ENST00000378103	Transcript	missense_variant	missense_variant	1275/3611	751/2784	251/927	R/C	Cgt/Tgt	rs762730206	1		-1	GBA2	HGNC	HGNC:18986	protein_coding	YES	CCDS6589.1	ENSP00000367343	Q9HCG7		UPI0000073FD5	NM_020944.2	deleterious(0)	probably_damaging(0.997)	4/17		Pfam_domain:PF12215;PIRSF_domain:PIRSF028944																	MODERATE	1	SNV	1			1	8.236e-06	8.237e-06	0	0	0	0	1.498e-05	0	0		PASS	CTGACGGCAGG	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	A	3	1	40	35741707	35741707	G	A	1	0	0	0	0	1	0	0	0	6139	1116	39	2		2	GBA2	9	35741707	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	31615935	35741707	102653010	8	557											
INPP5E	56623	BI	GRCh38	chr9	136438740	136438740	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgtgggcccgcaccAggagcggctgcgcgcggagc	19	14	0	0	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.680T>G	p.Leu227Arg	p.L227R	ENST00000371712	1/10	16	9	7	23			INPP5E,missense_variant,p.L227R,ENST00000371712,NM_019892.4,c.680T>G,MODERATE,YES,tolerated(0.06),possibly_damaging(0.786),-1;SEC16A,downstream_gene_variant,,ENST00000290037,NM_001276418.1,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000313050,NM_014866.1,,MODIFIER,YES,,,-1;SEC16A,downstream_gene_variant,,ENST00000371706,,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000431893,,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000453963,,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000277537,,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000313084,,,MODIFIER,,,,-1;SEC16A,downstream_gene_variant,,ENST00000467838,,,MODIFIER,,,,-1	C	ENST00000371712	Transcript	missense_variant	missense_variant	1083/3394	680/1935	227/644	L/R	cTg/cGg		1		-1	INPP5E	HGNC	HGNC:21474	protein_coding	YES	CCDS7000.1	ENSP00000360777	Q9NRR6		UPI000014053C	NM_019892.4	tolerated(0.06)	possibly_damaging(0.786)	1/10																			MODERATE	1	SNV	1			1											PASS	GCACCAGGAGC	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	C	3	2	40	136438740	136438740	A	C	1	0	0	0	0	1	0	0	0	7660	188	7	5		5	INPP5E	9	136438740	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08	100697033	136438740	1955977	9	558											
OR5L2	26338	BI	GRCh38	chr11	55827450	55827450	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctactcctcaataattGtgccaaagatgttggctaat	7	9	2	1	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.232G>T	p.Val78Leu	p.V78L	ENST00000378397	1/1	216	175	41	177			OR5L2,missense_variant,p.V78L,ENST00000378397,NM_001004739.1,c.232G>T,MODERATE,YES,tolerated(0.07),benign(0.168),1	T	ENST00000378397	Transcript	missense_variant	missense_variant	232/936	232/936	78/311	V/L	Gtg/Ttg		1		1	OR5L2	HGNC	HGNC:8351	protein_coding	YES	CCDS31511.1	ENSP00000367650	Q8NGL0		UPI0000041C49	NM_001004739.1	tolerated(0.07)	benign(0.168)	1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TAATTGTGCCA	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	T	3	4	40	55827450	55827450	G	T	1	0	0	0	0	1	0	0	0	11240	1377	48	5		5	OR5L2	11	55827450	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08		55827450	79259172	10	559											
PGR	5241	BI	GRCh38	chr11	101128948	101128948	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcaggcaaggtgtccgaGgtctggctccccgggaacgg	15	12	2	0	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.123C>A	p.=	p.T41T	ENST00000325455	1/8	46	43	3	22			PGR,synonymous_variant,p.T41T,ENST00000325455,NM_001202474.3&NM_000926.4,c.123C>A,LOW,YES,,,-1;PGR,synonymous_variant,p.T41T,ENST00000619228,,c.123C>A,LOW,,,,-1;PGR,synonymous_variant,p.T41T,ENST00000617858,,c.123C>A,LOW,,,,-1;PGR,synonymous_variant,p.T41T,ENST00000263463,NM_001271161.2,c.123C>A,LOW,,,,-1;PGR,intron_variant,,ENST00000534013,NM_001271162.1,c.-146+480C>A,MODIFIER,,,,-1;PGR,synonymous_variant,p.T41T,ENST00000534780,,c.123C>A,LOW,,,,-1;PGR,synonymous_variant,p.T41T,ENST00000528960,,c.123C>A,LOW,,,,-1;PGR,synonymous_variant,p.T41T,ENST00000526300,,c.123C>A,LOW,,,,-1	T	ENST00000325455	Transcript	synonymous_variant	synonymous_variant	1577/13748	123/2802	41/933	T	acC/acA		1		-1	PGR	HGNC	HGNC:8910	protein_coding	YES	CCDS8310.1	ENSP00000325120	P06401			NM_001202474.3;NM_000926.4			1/8		Pfam_domain:PF02161																	LOW	1	SNV	1			1											PASS	TCCGAGGTCTG	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			False	Unknown	T	2	4	40	101128948	101128948	G	T	1	0	0	0	0	0	0	0	1	11894	987	35	5		5	PGR	11	101128948	Silent	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	45301498	101128948	33957674	11	560											
SIK3	23387	BI	GRCh38	chr11	116858663	116858663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggggtgtaaatgcgcctgGtcgtagttagcaggggagaa	18	5	0	1	novel		TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.2658C>A	p.Asp886Glu	p.D886E	ENST00000375300	20/24	90	50	40	62			SIK3,missense_variant,p.D928E,ENST00000445177,,c.2782C>A,MODERATE,,tolerated_low_confidence(0.3),probably_damaging(0.995),-1;SIK3,missense_variant,p.D886E,ENST00000375300,NM_001281748.1&NM_025164.4,c.2658C>A,MODERATE,YES,tolerated_low_confidence(0.3),probably_damaging(0.995),-1;SIK3,intron_variant,,ENST00000446921,NM_001281749.1,c.2622-144C>A,MODIFIER,,,,-1;APOA1-AS,downstream_gene_variant,,ENST00000444200,,,MODIFIER,YES,,,1;SIK3,intron_variant,,ENST00000488337,,n.815-144C>A,MODIFIER,,,,-1;SIK3,non_coding_transcript_exon_variant,,ENST00000480468,,n.488C>A,MODIFIER,,,,-1;SIK3,intron_variant,,ENST00000415541,,c.*2146-144C>A,MODIFIER,,,,-1;SIK3,intron_variant,,ENST00000465421,,n.2064-144C>A,MODIFIER,,,,-1	T	ENST00000375300	Transcript	missense_variant	missense_variant	2664/6213	2658/3966	886/1321	D/E	gaC/gaA		1		-1	SIK3	HGNC	HGNC:29165	protein_coding	YES	CCDS8379.2	ENSP00000364449		J3KPC8	UPI000066D90F	NM_001281748.1;NM_025164.4	tolerated_low_confidence(0.3)	probably_damaging(0.995)	20/24		PROSITE_profiles:PS50322																	MODERATE	1	SNV	2			1											PASS	GCCTGGTCGTA	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221			True	Unknown	T	3	4	40	116858663	116858663	G	T	1	0	0	0	0	1	0	0	0	14583	1252	44	5		5	SIK3	11	116858663	Missense_Mutation	SNP	G	TCGA-VD-A8KA-01B-11D-A39W-08	15729715	116858663	18227959	12	561											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8KA-01B-11D-A39W-08	TCGA-VD-A8KA-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2739b097-1916-48a4-b585-bb514e2dcf40	63607a4e-c047-4242-8e10-86e52e9c523a	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	71	42	29	76			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	f8c61c27-701b-474e-b983-d90126ffc578	b852b909-b990-4d0c-ae1b-e2af41a27d2c	a3518ece-5c40-4029-8410-2b56ed462cc3	af04ca52-8b71-497e-8135-6ddfca9ab221		COSM52969	True	Unknown	T	3	4	40	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8KA-01B-11D-A39W-08		3118944	55498672	13	562											
OR6K3	391114	BI	GRCh38	chr1	158717207	158717207	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacactttttgaagacagaaCagttttttaatcgcattgtt	6	6	0	3	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.957G>A	p.=	p.L319L	ENST00000368146	1/1	79	41	38	114			OR6K3,synonymous_variant,p.L319L,ENST00000368146,,c.957G>A,LOW,,,,-1;OR6K3,synonymous_variant,p.L303L,ENST00000368145,NM_001005327.2,c.909G>A,LOW,YES,,,-1	T	ENST00000368146	Transcript	synonymous_variant	synonymous_variant	957/996	957/996	319/331	L	ctG/ctA		1		-1	OR6K3	HGNC	HGNC:15030	protein_coding			ENSP00000357128	Q8NGY3		UPI000004B220				1/1		Superfamily_domains:SSF81321																	LOW		SNV				1											PASS	CAGAACAGTTT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	2	4	41	158717207	158717207	C	T	1	0	0	0	0	0	0	0	1	11272	465	17	3		3	OR6K3	1	158717207	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		158717207	90239215	1	563											
NIT1	4817	BI	GRCh38	chr1	161119951	161119951	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcacaccagcaggcaAggtaggagttgtgaaaggat	14	7	1	1	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.590A>T	p.Lys197Met	p.K197M	ENST00000368009	5/7	37	34	3	60			NIT1,missense_variant,p.K197M,ENST00000368008,NM_001185092.1,c.590A>T,MODERATE,,deleterious(0.04),probably_damaging(0.986),1;NIT1,missense_variant,p.K182M,ENST00000368007,NM_001185093.1,c.545A>T,MODERATE,,tolerated(0.06),benign(0.288),1;NIT1,missense_variant,p.K161M,ENST00000392190,NM_001185094.1,c.482A>T,MODERATE,,deleterious(0.01),benign(0.411),1;NIT1,missense_variant,p.K197M,ENST00000368009,NM_005600.2,c.590A>T,MODERATE,YES,tolerated(0.06),benign(0.411),1;DEDD,downstream_gene_variant,,ENST00000368006,NM_032998.2,,MODIFIER,YES,,,-1;DEDD,downstream_gene_variant,,ENST00000545495,NM_001039711.1,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000458050,NM_001039712.1,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000490843,,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000368005,,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000464113,,,MODIFIER,,,,-1;PFDN2,upstream_gene_variant,,ENST00000368010,NM_012394.3,,MODIFIER,YES,,,-1;NIT1,splice_region_variant,,ENST00000496861,,n.1154A>T,LOW,,,,1;NIT1,splice_region_variant,,ENST00000485594,,n.604A>T,LOW,,,,1;NIT1,splice_region_variant,,ENST00000492411,,n.696A>T,LOW,,,,1;NIT1,splice_region_variant,,ENST00000496768,,n.663A>T,LOW,,,,1;NIT1,non_coding_transcript_exon_variant,,ENST00000479266,,n.566A>T,MODIFIER,,,,1;DEDD,downstream_gene_variant,,ENST00000489249,,,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000491497,,,MODIFIER,,,,1;DEDD,downstream_gene_variant,,ENST00000486041,,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000463227,,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000496632,,,MODIFIER,,,,-1;DEDD,downstream_gene_variant,,ENST00000473679,,,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000461376,,,MODIFIER,,,,1;NIT1,upstream_gene_variant,,ENST00000479728,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000486962,,,MODIFIER,,,,1;NIT1,downstream_gene_variant,,ENST00000477684,,,MODIFIER,,,,1;PFDN2,upstream_gene_variant,,ENST00000468311,,,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000478277,,,MODIFIER,,,,1;DEDD,downstream_gene_variant,,ENST00000472996,,,MODIFIER,,,,-1;NIT1,downstream_gene_variant,,ENST00000473918,,,MODIFIER,,,,1	T	ENST00000368009	Transcript	missense_variant	missense_variant;splice_region_variant	666/1362	590/984	197/327	K/M	aAg/aTg		1		1	NIT1	HGNC	HGNC:7828	protein_coding	YES	CCDS1218.1	ENSP00000356988	Q86X76		UPI00000715F9	NM_005600.2	tolerated(0.06)	benign(0.411)	5/7		Pfam_domain:PF00795;PROSITE_profiles:PS50263;Superfamily_domains:SSF56317																	MODERATE	1	SNV	1			1											PASS	AGGCAAGGTAG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			False	Unknown	T	3	4	41	161119951	161119951	A	T	1	0	0	0	0	1	0	0	0	10468	86	3	5		5	NIT1	1	161119951	Missense_Mutation	SNP	A	TCGA-VD-A8KB-01A-11D-A39W-08	2402744	161119951	87836471	2	564											
NCF2	4688	BI	GRCh38	chr1	183560245	183560245	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagctttttcactttccTtgggttcatctggaaagcct	7	11	4	0	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1319A>C	p.Lys440Thr	p.K440T	ENST00000367535	14/15	109	67	42	167			NCF2,missense_variant,p.K395T,ENST00000413720,NM_001190794.1,c.1184A>C,MODERATE,,tolerated(0.36),benign(0.028),-1;NCF2,missense_variant,p.K440T,ENST00000367535,NM_000433.3,c.1319A>C,MODERATE,YES,tolerated(0.37),benign(0.091),-1;NCF2,missense_variant,p.K440T,ENST00000367536,NM_001127651.2,c.1319A>C,MODERATE,,tolerated(0.37),benign(0.091),-1;NCF2,missense_variant,p.K359T,ENST00000418089,NM_001190789.1,c.1076A>C,MODERATE,,tolerated(0.29),benign(0.062),-1;NCF2,downstream_gene_variant,,ENST00000419402,,,MODIFIER,,,,-1;NCF2,downstream_gene_variant,,ENST00000420553,,,MODIFIER,,,,-1;SMG7,intron_variant,,ENST00000495321,,n.233+9055T>G,MODIFIER,,,,1;NCF2,downstream_gene_variant,,ENST00000469280,,,MODIFIER,,,,-1	G	ENST00000367535	Transcript	missense_variant	missense_variant	1571/2226	1319/1581	440/526	K/T	aAg/aCg		1		-1	NCF2	HGNC	HGNC:7661	protein_coding	YES	CCDS1356.1	ENSP00000356505	P19878		UPI0000000A07	NM_000433.3	tolerated(0.37)	benign(0.091)	14/15		Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1											PASS	TTTCCTTGGGT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	G	3	3	41	183560245	183560245	T	G	1	0	0	0	0	1	0	0	0	10235	1609	56	5		5	NCF2	1	183560245	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	22440294	183560245	65396177	3	565											
C2orf16	84226	BI	GRCh38	chr2	27581547	27581570	+	In_Frame_Del	DEL	GAGAGAAGCCATCGCAGTTCCTCT	GAGAGAAGCCATCGCAGTTCCTCT	-													gaagccatcgcagtccctcaGagagaagccatcgcagttcc					novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.4983_5006delCCATCGCAGTTCCTCTGAGAGAAG	p.Ser1661_Arg1668del	p.S1661_R1668del	ENST00000408964	1/1	190	144	46	348			C2orf16,inframe_deletion,p.S1661_R1668del,ENST00000408964,NM_032266.3,c.4983_5006delCCATCGCAGTTCCTCTGAGAGAAG,MODERATE,YES,,,1;ZNF512,upstream_gene_variant,,ENST00000413371,NM_001271318.1&NM_001271289.1,,MODIFIER,,,,1;ZNF512,upstream_gene_variant,,ENST00000556601,NM_001271287.1&NM_001271288.1,,MODIFIER,,,,1;ZNF512,upstream_gene_variant,,ENST00000355467,NM_032434.3,,MODIFIER,YES,,,1;ZNF512,upstream_gene_variant,,ENST00000416005,NM_001271286.1,,MODIFIER,,,,1;ZNF512,upstream_gene_variant,,ENST00000379717,,,MODIFIER,,,,1;AC074091.1,downstream_gene_variant,,ENST00000408604,,,MODIFIER,YES,,,-1;RP11-158I13.2,upstream_gene_variant,,ENST00000505973,,,MODIFIER,YES,,,1;ZNF512,upstream_gene_variant,,ENST00000494548,,,MODIFIER,,,,1;ZNF512,upstream_gene_variant,,ENST00000461705,,,MODIFIER,,,,1	-	ENST00000408964	Transcript	inframe_deletion	inframe_deletion	5026-5049/6199	4975-4998/5955	1659-1666/1984	ERSHRSSS/-	GAGAGAAGCCATCGCAGTTCCTCT/-		1		1	C2orf16	HGNC	HGNC:25275	protein_coding	YES	CCDS42666.1	ENSP00000386190	Q68DN1		UPI0000D61179	NM_032266.3			1/1		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50323;PROSITE_profiles:PS50316;PROSITE_profiles:PS50324																	MODERATE		deletion		8		1											PASS	CCCTCAGAGAGAAGCCATCGCAGTTCCTCTGAGAG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			False	Unknown	-	7	5	41	27581547	27581547	GAGAGAAGCCATCGCAGTTCCTCT	-	1	0	1	0	1	0	0	0	0	2032	943	33	0		0	C2orf16	2	27581547	In_Frame_Del	DEL	GAGAGAAGCCATCGCAGTTCCTCT	TCGA-VD-A8KB-01A-11D-A39W-08		27581547	214611982	4	566											
SAP130	79595	BI	GRCh38	chr2	128017785	128017785	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgacagcatggtgtgtcgaCaacatctgcacctgtggata	12	10	1	0	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.321G>T	p.Leu107Phe	p.L107F	ENST00000259235	3/20	110	71	39	97			SAP130,missense_variant,p.L107F,ENST00000357702,NM_001145928.1,c.321G>T,MODERATE,YES,tolerated_low_confidence(0.11),benign(0.113),-1;SAP130,missense_variant,p.L81F,ENST00000259234,,c.243G>T,MODERATE,,tolerated_low_confidence(0.11),probably_damaging(0.994),-1;SAP130,missense_variant,p.L107F,ENST00000259235,NM_024545.3,c.321G>T,MODERATE,,tolerated_low_confidence(0.11),unknown(0),-1;SAP130,missense_variant,p.L81F,ENST00000424298,,c.243G>T,MODERATE,,tolerated_low_confidence(0.15),unknown(0),-1;SAP130,missense_variant,p.L81F,ENST00000450957,,c.243G>T,MODERATE,,tolerated(0.29),probably_damaging(0.996),-1	A	ENST00000259235	Transcript	missense_variant	missense_variant	451/4065	321/3147	107/1048	L/F	ttG/ttT		1		-1	SAP130	HGNC	HGNC:29813	protein_coding		CCDS2153.1	ENSP00000259235	Q9H0E3		UPI0000037CDA	NM_024545.3	tolerated_low_confidence(0.11)	unknown(0)	3/20																			MODERATE		SNV	1			1											PASS	GTCGACAACAT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	3	1	41	128017785	128017785	C	A	1	0	0	0	0	1	0	0	0	14091	477	17	5		5	SAP130	2	128017785	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	100436238	128017785	114175744	5	567											
GTDC1	79712	BI	GRCh38	chr2	144208651	144208651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagaaatataaagcagatGtccgggctctccaatgccat	10	9	1	2	rs115723847	by1000G;byCluster	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.131C>T	p.Thr44Ile	p.T44I	ENST00000344850	4/12	52	43	9	62			GTDC1,missense_variant,p.T44I,ENST00000392869,,c.131C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,missense_variant,p.T44I,ENST00000409214,NM_001006636.3,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,missense_variant,p.T44I,ENST00000542155,NM_001164629.3,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,missense_variant,p.T44I,ENST00000344850,,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,missense_variant,p.T44I,ENST00000392867,NM_024659.4,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;GTDC1,missense_variant,p.T44I,ENST00000241391,NM_001284233.1,c.131C>T,MODERATE,,deleterious(0.01),probably_damaging(0.995),-1;GTDC1,missense_variant,p.T44I,ENST00000409298,,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.987),-1;GTDC1,missense_variant,p.T44I,ENST00000437114,,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,missense_variant,p.T44I,ENST00000417450,,c.131C>T,MODERATE,,deleterious(0.02),probably_damaging(0.954),-1;GTDC1,intron_variant,,ENST00000463875,NM_001284234.1,c.-209+27025C>T,MODIFIER,,,,-1;GTDC1,downstream_gene_variant,,ENST00000467352,,,MODIFIER,,,,-1;GTDC1,missense_variant,p.T44I,ENST00000415569,,c.131C>T,MODERATE,,deleterious(0.03),probably_damaging(0.999),-1;GTDC1,missense_variant,p.T44I,ENST00000392871,,c.131C>T,MODERATE,,deleterious(0.01),probably_damaging(0.995),-1;GTDC1,missense_variant,p.T44I,ENST00000429978,,c.131C>T,MODERATE,,deleterious(0.03),probably_damaging(0.999),-1;GTDC1,non_coding_transcript_exon_variant,,ENST00000491448,,n.281C>T,MODIFIER,,,,-1;GTDC1,non_coding_transcript_exon_variant,,ENST00000484303,,n.283C>T,MODIFIER,,,,-1	A	ENST00000344850	Transcript	missense_variant	missense_variant	325/2607	131/1377	44/458	T/I	aCa/aTa	rs115723847	1		-1	GTDC1	HGNC	HGNC:20887	protein_coding		CCDS33300.1	ENSP00000339750	Q4AE62	G1UFN1	UPI000022BC3B		deleterious(0.02)	probably_damaging(0.954)	4/12		Pfam_domain:PF12038	2e-04	8e-04	0		0	0	0										MODERATE		SNV	1			1											PASS	CAGATGTCCGG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	3	1	41	144208651	144208651	G	A	1	0	0	0	0	1	0	0	0	6733	1377	48	3		3	GTDC1	2	144208651	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	16190866	144208651	97984878	6	568											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	57	34	23	57			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1		COSM110696	True	Unknown	A	3	1	41	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	53194109	197402760	44790769	7	569											
ARPP21	10777	BI	GRCh38	chr3	35721669	35721669	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcagaaaatgaactcAagtggtctgaccaccaaagg	10	10	3	3	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1060A>T	p.Lys354Ter	p.K354*	ENST00000187397	14/20	27	24	3	36			ARPP21,stop_gained,p.K354*,ENST00000187397,NM_016300.4,c.1060A>T,HIGH,,,,1;ARPP21,stop_gained,p.K300*,ENST00000444190,NM_001267617.1,c.898A>T,HIGH,,,,1;ARPP21,stop_gained,p.K320*,ENST00000417925,NM_001267619.1,c.958A>T,HIGH,YES,,,1;ARPP21,stop_gained,p.K127*,ENST00000425289,,c.377A>T,HIGH,,,,1;ARPP21,intron_variant,,ENST00000476327,,n.82-7634A>T,MODIFIER,,,,1;ARPP21,stop_gained,p.K12*,ENST00000457165,,c.34A>T,HIGH,,,,1;ARPP21,synonymous_variant,p.S104S,ENST00000427590,,c.310A>T,LOW,,,,1;ARPP21,non_coding_transcript_exon_variant,,ENST00000481854,,n.638A>T,MODIFIER,,,,1;ARPP21,downstream_gene_variant,,ENST00000446068,,,MODIFIER,,,,1	T	ENST00000187397	Transcript	stop_gained	stop_gained	1516/3433	1060/2439	354/812	K/*	Aag/Tag		1		1	ARPP21	HGNC	HGNC:16968	protein_coding		CCDS2661.1	ENSP00000187397	Q9UBL0		UPI0000192731	NM_016300.4			14/20		PROSITE_profiles:PS50324																	HIGH		SNV	1			1											PASS	AACTCAAGTGG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			False	Unknown	T	4	4	41	35721669	35721669	A	T	1	0	0	0	0	0	1	0	0	1121	131	5	5		5	ARPP21	3	35721669	Nonsense_Mutation	SNP	A	TCGA-VD-A8KB-01A-11D-A39W-08		35721669	162573890	8	570											
SCN11A	11280	BI	GRCh38	chr3	38872217	38872217	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccttcaaactgggacagCgcacgaagaggcctcagtgc	11	12	2	1	rs771153034	byFrequency	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.3471G>A	p.=	p.A1157A	ENST00000302328	20/26	148	75	73	147			SCN11A,synonymous_variant,p.A1157A,ENST00000302328,NM_001287223.1&NM_014139.2,c.3471G>A,LOW,YES,,,-1;SCN11A,synonymous_variant,p.A1157A,ENST00000444237,,c.3471G>A,LOW,,,,-1;SCN11A,synonymous_variant,p.A1119A,ENST00000456224,,c.3357G>A,LOW,,,,-1	T	ENST00000302328	Transcript	synonymous_variant	synonymous_variant	3670/6500	3471/5376	1157/1791	A	gcG/gcA	rs771153034	1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_001287223.1;NM_014139.2			20/26		Low_complexity_(Seg):Seg;Pfam_domain:PF00520;Superfamily_domains:SSF81324																	LOW	1	SNV	5			1	2.471e-05	2.473e-05	0	0.0001734	0	0	1.5e-05	0	0		PASS	GACAGCGCACG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	2	4	41	38872217	38872217	C	T	1	0	0	0	0	0	0	0	1	14182	755	27	2		2	SCN11A	3	38872217	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	3150548	38872217	159423342	9	571											
PRSS50	29122	BI	GRCh38	chr3	46714394	46714411	+	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	CGGTACCTGCTATGCATG	-													aggaccagaaccgctgggccCggtacctgctatgcatgatg					novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.561_578delCATGCATAGCAGGTACCG	p.Ile187_Arg193delinsMet	p.I187_R193delinsM	ENST00000315170	4/6	11	3	8	20			PRSS50,inframe_deletion,p.I187_R193delinsM,ENST00000460241,,c.561_578delCATGCATAGCAGGTACCG,MODERATE,YES,,,-1;PRSS50,inframe_deletion,p.I187_R193delinsM,ENST00000315170,NM_013270.4,c.561_578delCATGCATAGCAGGTACCG,MODERATE,,,,-1;TMIE,downstream_gene_variant,,ENST00000326431,NM_147196.2,,MODIFIER,YES,,,1	-	ENST00000315170	Transcript	inframe_deletion	inframe_deletion	620-637/1347	561-578/1158	187-193/385	IMHSRYR/M	atCATGCATAGCAGGTACCGg/atg		1		-1	PRSS50	HGNC	HGNC:17910	protein_coding		CCDS2745.1	ENSP00000326598	Q9UI38		UPI0000037465	NM_013270.4			4/6		Pfam_domain:PF00089;Pfam_domain:PF09342;PROSITE_profiles:PS50240;SMART_domains:SM00020;Superfamily_domains:SSF50494																	MODERATE		deletion	1			1											PASS	TGGGCCCGGTACCTGCTATGCATGATGAC	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			False	Unknown	-	7	5	41	46714394	46714394	CGGTACCTGCTATGCATG	-	1	0	1	0	1	0	0	0	0	12779	652	23	0		0	PRSS50	3	46714394	In_Frame_Del	DEL	CGGTACCTGCTATGCATG	TCGA-VD-A8KB-01A-11D-A39W-08	7842177	46714394	151581165	10	572											
MARCH11	441061	BI	GRCh38	chr5	16091024	16091025	+	Frame_Shift_Ins	INS	-	-	ATTTCTT													gctattaagaacagggatccINStaggattacagcaatcatct					novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.750_751insAAGAAAT	p.Gly251LysfsTer53	p.G251Kfs*53	ENST00000332432	3/4	17	15	2	11			MARCH11,frameshift_variant,p.G251Kfs*53,ENST00000332432,NM_001102562.1,c.750_751insAAGAAAT,HIGH,YES,,,-1;MARCH11,intron_variant,,ENST00000507111,,c.105-23232_105-23231insAAGAAAT,MODIFIER,,,,-1;MARCH11,non_coding_transcript_exon_variant,,ENST00000505509,,n.331_332insAAGAAAT,MODIFIER,,,,-1	ATTTCTT	ENST00000332432	Transcript	frameshift_variant	frameshift_variant	950-951/1741	750-751/1209	250-251/402	-/KKX	-/AAGAAAT		1		-1	MARCH11	HGNC	HGNC:33609	protein_coding	YES	CCDS47192.1	ENSP00000333181	A6NNE9			NM_001102562.1			3/4		Transmembrane_helices:Tmhmm																	HIGH	1	insertion	5			1											PASS	GGATCCTAGGA	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			False	Unknown	ATTTCTT	7	5	41	16091024	16091024	-	ATTTCTT	1	0	1	1	0	0	0	0	0	9225	690	24	0		0	MARCH11	5	16091024	Frame_Shift_Ins	INS	-	TCGA-VD-A8KB-01A-11D-A39W-08		16091024	165447235	11	573											
ROS1	6098	BI	GRCh38	chr6	117389625	117389625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttttcacatcagcaaagGggatgcgaggtaggatgaga	13	6	2	1	rs766232395		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1484C>T	p.Pro495Leu	p.P495L	ENST00000368508	12/43	20	1	19	58			ROS1,missense_variant,p.P495L,ENST00000368508,NM_002944.2,c.1484C>T,MODERATE,YES,tolerated(0.06),benign(0.092),-1;ROS1,missense_variant,p.P504L,ENST00000368507,,c.1511C>T,MODERATE,,tolerated(0.14),benign(0.225),-1;GOPC,intron_variant,,ENST00000467125,,n.548-68231C>T,MODIFIER,,,,-1	A	ENST00000368508	Transcript	missense_variant	missense_variant	1683/7435	1484/7044	495/2347	P/L	cCc/cTc	rs766232395	1		-1	ROS1	HGNC	HGNC:10261	protein_coding	YES	CCDS5116.1	ENSP00000357494	P08922		UPI000013D467	NM_002944.2	tolerated(0.06)	benign(0.092)	12/43																			MODERATE	1	SNV	1			1	8.236e-06	8.239e-06	0	0	0.0001156	0	0	0	0		PASS	CAAAGGGGATG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	3	1	41	117389625	117389625	G	A	1	0	0	0	0	1	0	0	0	13708	1232	43	3		3	ROS1	6	117389625	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		117389625	53416354	12	574											
C7orf55	51631	BI	GRCh38	chr7	139341388	139341388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggagaaggacaggacaatgGcggccttagggtccccgtcg	16	11	0	1	rs75669887	by1000G;byCluster	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.4G>A	p.Ala2Thr	p.A2T	ENST00000541515	1/11	53	30	23	48			LUC7L2,missense_variant,p.A2T,ENST00000541515,NM_001244584.2,c.4G>A,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.483),1;C7orf55,missense_variant,p.A2T,ENST00000297534,NM_197964.4,c.4G>A,MODERATE,YES,deleterious(0),benign(0.164),1;C7orf55-LUC7L2,intron_variant,,ENST00000541170,NM_001244585.1,c.-26+871G>A,MODIFIER,,,,1;C7orf55,intron_variant,,ENST00000481123,,n.170+769G>A,MODIFIER,,,,1;C7orf55,intron_variant,,ENST00000488886,,n.43+769G>A,MODIFIER,,,,1;C7orf55,intron_variant,,ENST00000482181,,n.109+789G>A,MODIFIER,,,,1;C7orf55,intron_variant,,ENST00000468383,,n.50+1882G>A,MODIFIER,,,,1	A	ENST00000541515	Transcript	missense_variant	missense_variant	29/1661	4/1377	2/458	A/T	Gcg/Acg	rs75669887	1		1	LUC7L2	HGNC	HGNC:21608	protein_coding	YES	CCDS59084.1	ENSP00000440222		A0A0A6YYJ8	UPI0001914F36	NM_001244584.2	deleterious_low_confidence(0)	possibly_damaging(0.483)	1/11			2e-04	0	0		0	0.001	0										MODERATE		SNV	2			1	1.647e-05	8.336e-06	0	0	0	0	1.515e-05	0	0		PASS	CAATGGCGGCC	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	3	1	41	139341388	139341388	G	A	1	0	0	0	0	1	0	0	0	2143	1203	42	3		3	C7orf55	7	139341388	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		139341388	20004585	13	575											
DENND3	22898	BI	GRCh38	chr8	141151652	141151652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgacggaacagcggatcGtcttcttctcctcggactgg	11	13	3	1	rs571831372	by1000G;byCluster	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.649G>A	p.Val217Ile	p.V217I	ENST00000262585	7/23	174	150	24	113			DENND3,missense_variant,p.V297I,ENST00000519811,,c.889G>A,MODERATE,,tolerated(0.05),probably_damaging(0.915),1;DENND3,missense_variant,p.V217I,ENST00000262585,NM_014957.2,c.649G>A,MODERATE,YES,tolerated(0.06),probably_damaging(0.949),1;DENND3,missense_variant,p.V274I,ENST00000518668,,c.818G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.784),1;DENND3,missense_variant,p.V217I,ENST00000424248,,c.649G>A,MODERATE,,tolerated(0.07),probably_damaging(0.923),1;DENND3,missense_variant,p.V219I,ENST00000520986,,c.655G>A,MODERATE,,deleterious(0),possibly_damaging(0.817),1;DENND3,downstream_gene_variant,,ENST00000523058,,,MODIFIER,,,,1;DENND3,upstream_gene_variant,,ENST00000521477,,,MODIFIER,,,,1;DENND3,downstream_gene_variant,,ENST00000523015,,,MODIFIER,,,,1	A	ENST00000262585	Transcript	missense_variant	missense_variant	927/5438	649/3597	217/1198	V/I	Gtc/Atc	rs571831372	1		1	DENND3	HGNC	HGNC:29134	protein_coding	YES	CCDS34947.1	ENSP00000262585	A2RUS2		UPI00003CEFBA	NM_014957.2	tolerated(0.06)	probably_damaging(0.949)	7/23		Pfam_domain:PF02141;PROSITE_profiles:PS50211;SMART_domains:SM00799	2e-04	0	0		0	0.001	0										MODERATE	1	SNV	5			1											PASS	GGATCGTCTTC	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1		COSM1096756	True	Unknown	A	3	1	41	141151652	141151652	G	A	1	0	0	0	0	1	0	0	0	4236	1145	40	1		1	DENND3	8	141151652	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		141151652	3986984	14	576											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	90	42	48	93			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1		COSM28758	True	Unknown	G	3	3	41	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08		77794572	60600145	15	577											
TRAF2	7186	BI	GRCh38	chr9	136925721	136925721	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaataaccgggagcaCgtgattgacgccttcaggcc	12	12	1	3	rs560077345	by1000G	TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1326C>T	p.=	p.H442H	ENST00000247668	11/11	63	40	23	67			TRAF2,synonymous_variant,p.H442H,ENST00000247668,NM_021138.3,c.1326C>T,LOW,YES,,,1;RABL6,intron_variant,,ENST00000432842,,c.*1038-31998C>T,MODIFIER,,,,1;TRAF2,downstream_gene_variant,,ENST00000466107,,,MODIFIER,,,,1	T	ENST00000247668	Transcript	synonymous_variant	synonymous_variant	1378/2264	1326/1506	442/501	H	caC/caT	rs560077345	1		1	TRAF2	HGNC	HGNC:12032	protein_coding	YES	CCDS7013.1	ENSP00000247668	Q12933	A0A024R8H5	UPI0000001612	NM_021138.3			11/11		Pfam_domain:PF00917;PROSITE_profiles:PS50144;SMART_domains:SM00061;Superfamily_domains:SSF49599;PIRSF_domain:PIRSF015614	2e-04	0	0		0.001	0	0										LOW	1	SNV	1			1	4.942e-05	4.979e-05	0	0	0.0004643	0	3.02e-05	0	0		PASS	GAGCACGTGAT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1	common_in_exac	COSM1461253	True	Unknown	T	2	4	41	136925721	136925721	C	T	1	0	0	0	0	0	0	0	1	16921	535	19	1		1	TRAF2	9	136925721	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08	59131149	136925721	1468996	16	578											
LMO3	55885	BI	GRCh38	chr12	16600744	16600744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagtcacagcaggcacaCttcaggcagtcttcatgcca	9	14	4	0	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.117G>A	p.=	p.K39K	ENST00000320122	2/4	72	39	33	72			LMO3,synonymous_variant,p.K50K,ENST00000261169,NM_001243611.1,c.150G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000320122,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000354662,NM_001001395.2,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000441439,NM_001243609.1,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K57K,ENST00000541295,NM_001243612.1,c.171G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000447609,NM_001243610.1,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000616247,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000537304,NM_018640.4,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000540848,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000535535,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000534946,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000540445,NM_001243613.1,c.117G>A,LOW,YES,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000538020,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000546279,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000538051,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000541846,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000540590,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000539534,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000545436,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000537757,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000546281,,c.117G>A,LOW,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000537568,,n.481G>A,MODIFIER,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000536509,,n.456G>A,MODIFIER,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000332914,,n.486G>A,MODIFIER,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000544276,,n.278G>A,MODIFIER,,,,-1;MGST1,intron_variant,,ENST00000539036,,n.401-8350C>T,MODIFIER,,,,1;LMO3,synonymous_variant,p.K39K,ENST00000396205,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000453727,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000541589,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000541764,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000424192,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000536172,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000539232,,c.117G>A,LOW,,,,-1;LMO3,synonymous_variant,p.K39K,ENST00000544754,,c.117G>A,LOW,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000543721,,n.498G>A,MODIFIER,,,,-1;LMO3,non_coding_transcript_exon_variant,,ENST00000439600,,n.317G>A,MODIFIER,,,,-1	T	ENST00000320122	Transcript	synonymous_variant	synonymous_variant	640/3759	117/438	39/145	K	aaG/aaA		1		-1	LMO3	HGNC	HGNC:6643	protein_coding		CCDS8678.1	ENSP00000312856	Q8TAP4	A0A024RAT1	UPI000006F2D4				2/4		Pfam_domain:PF00412;PROSITE_profiles:PS50023;SMART_domains:SM00132;Superfamily_domains:SSF57716																	LOW		SNV	1			1											PASS	GCACACTTCAG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	2	4	41	16600744	16600744	C	T	1	0	0	0	0	0	0	0	1	8779	564	20	3		3	LMO3	12	16600744	Silent	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		16600744	116674565	17	579											
PITPNM2	57605	BI	GRCh38	chr12	122996839	122996839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaggtggccagcaggGggagggcagccaggggaatg	24	6	0	0	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1544C>A	p.Pro515His	p.P515H	ENST00000320201	11/25	41	22	19	73			PITPNM2,missense_variant,p.P515H,ENST00000280562,NM_001300801.1,c.1544C>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PITPNM2,missense_variant,p.P515H,ENST00000320201,NM_020845.2,c.1544C>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PITPNM2,missense_variant,p.P515H,ENST00000542749,,c.1544C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PITPNM2,downstream_gene_variant,,ENST00000546049,,,MODIFIER,,,,-1;PITPNM2,downstream_gene_variant,,ENST00000451868,,,MODIFIER,,,,-1;PITPNM2,downstream_gene_variant,,ENST00000436074,,,MODIFIER,,,,-1	T	ENST00000320201	Transcript	missense_variant	missense_variant	1683/6736	1544/4050	515/1349	P/H	cCc/cAc		1		-1	PITPNM2	HGNC	HGNC:21044	protein_coding	YES	CCDS9242.1	ENSP00000322218	Q9BZ72		UPI0000070D27	NM_020845.2	deleterious(0)	probably_damaging(0.999)	11/25		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	5			1											PASS	GCAGGGGGAGG	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	3	4	41	122996839	122996839	G	T	1	0	0	0	0	1	0	0	0	12047	1232	43	5		5	PITPNM2	12	122996839	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08	106396095	122996839	10278470	18	580											
KIAA1024	23251	BI	GRCh38	chr15	79468205	79468205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacgcaagaatctttaaacCcaaataatttagagtactgg	7	7	1	3	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.2572C>T	p.Pro858Ser	p.P858S	ENST00000305428	4/4	35	20	15	35			KIAA1024,missense_variant,p.P858S,ENST00000305428,NM_015206.2,c.2572C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;KIAA1024,3_prime_UTR_variant,,ENST00000559272,,c.*73C>T,MODIFIER,,,,1	T	ENST00000305428	Transcript	missense_variant	missense_variant	2647/6732	2572/2751	858/916	P/S	Cca/Tca		1		1	KIAA1024	HGNC	HGNC:29172	protein_coding	YES	CCDS32306.1	ENSP00000307461	Q9UPX6		UPI00001B2F56	NM_015206.2	deleterious(0)	probably_damaging(1)	4/4		Pfam_domain:PF06789																	MODERATE	1	SNV	1			1											PASS	TAAACCCAAAT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	3	4	41	79468205	79468205	C	T	1	0	0	0	0	1	0	0	0	8097	623	22	3		3	KIAA1024	15	79468205	Missense_Mutation	SNP	C	TCGA-VD-A8KB-01A-11D-A39W-08		79468205	22522984	19	581											
KRT32	3882	BI	GRCh38	chr17	41464149	41464149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcaatgatgtctgactGgtagttctgaagctgctcag	12	8	4	3	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.925C>T	p.Gln309Ter	p.Q309*	ENST00000225899	5/7	50	28	22	55			KRT32,stop_gained,p.Q309*,ENST00000225899,NM_002278.3,c.925C>T,HIGH,YES,,,-1;RNU2-32P,upstream_gene_variant,,ENST00000411193,,,MODIFIER,YES,,,1	A	ENST00000225899	Transcript	stop_gained	stop_gained	1029/1750	925/1347	309/448	Q/*	Cag/Tag		1		-1	KRT32	HGNC	HGNC:6449	protein_coding	YES	CCDS11393.1	ENSP00000225899	Q14532		UPI000013C883	NM_002278.3			5/7		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00038;Superfamily_domains:SSF46579																	HIGH	1	SNV	1			1											PASS	TGACTGGTAGT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	4	1	41	41464149	41464149	G	A	1	0	0	0	0	0	1	0	0	8350	1357	47	3		3	KRT32	17	41464149	Nonsense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		41464149	41793292	20	582											
RNF43	54894	BI	GRCh38	chr17	58357971	58357971	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccccgaaggggctgctgagTtggatctggtgacttgctga	16	9	1	3	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.1805A>G	p.Asn602Ser	p.N602S	ENST00000407977	9/10	127	79	48	95			RNF43,missense_variant,p.N602S,ENST00000584437,,c.1805A>G,MODERATE,YES,tolerated_low_confidence(0.66),benign(0.003),-1;RNF43,missense_variant,p.N602S,ENST00000407977,,c.1805A>G,MODERATE,,tolerated_low_confidence(0.66),benign(0.003),-1;RNF43,missense_variant,p.N602S,ENST00000577716,NM_017763.4,c.1805A>G,MODERATE,,tolerated_low_confidence(0.66),benign(0.003),-1;RNF43,missense_variant,p.N561S,ENST00000583753,,c.1682A>G,MODERATE,,tolerated(0.65),benign(0.006),-1;RNF43,missense_variant,p.N475S,ENST00000581868,,c.1424A>G,MODERATE,,tolerated_low_confidence(0.29),benign(0.009),-1;RNF43,missense_variant,p.N475S,ENST00000577625,,c.1424A>G,MODERATE,,tolerated(0.62),benign(0.003),-1;SUPT4H1,upstream_gene_variant,,ENST00000580947,,,MODIFIER,,,,-1;BZRAP1-AS1,intron_variant,,ENST00000583841,,n.434+20292T>C,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000580022,,,MODIFIER,YES,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000578025,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000579527,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000579859,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000585236,,,MODIFIER,,,,1	C	ENST00000407977	Transcript	missense_variant	missense_variant	2526/5516	1805/2352	602/783	N/S	aAc/aGc		1		-1	RNF43	HGNC	HGNC:18505	protein_coding		CCDS11607.1	ENSP00000385328	Q68DV7		UPI000022A469		tolerated_low_confidence(0.66)	benign(0.003)	9/10		PROSITE_profiles:PS50099																	MODERATE		SNV	1			1											PASS	CTGAGTTGGAT	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	C	3	2	41	58357971	58357971	T	C	1	0	0	0	0	1	0	0	0	13675	1725	60	4		4	RNF43	17	58357971	Missense_Mutation	SNP	T	TCGA-VD-A8KB-01A-11D-A39W-08	16893822	58357971	24899470	21	583											
NPEPL1	79716	BI	GRCh38	chr20	58701145	58701145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgacactggaggcctcaGcatcaaagggaaggtgaggt	14	8	2	2	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.809G>A	p.Ser270Asn	p.S270N	ENST00000356091	6/12	9	3	6	10			NPEPL1,missense_variant,p.S270N,ENST00000356091,NM_024663.3,c.809G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.506),1;NPEPL1,missense_variant,p.S242N,ENST00000525967,NM_001204872.1,c.725G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.714),1;NPEPL1,missense_variant,p.S222N,ENST00000525817,NM_001204873.1,c.665G>A,MODERATE,,deleterious(0.01),probably_damaging(0.94),1;NPEPL1,missense_variant,p.S159N,ENST00000533788,,c.474G>A,MODERATE,,deleterious(0.04),benign(0.358),1;STX16-NPEPL1,3_prime_UTR_variant,,ENST00000530122,,c.*792G>A,MODIFIER,YES,,,1;NPEPL1,non_coding_transcript_exon_variant,,ENST00000529976,,n.1227G>A,MODIFIER,,,,1;NPEPL1,non_coding_transcript_exon_variant,,ENST00000527587,,n.1217G>A,MODIFIER,,,,1	A	ENST00000356091	Transcript	missense_variant	missense_variant	1097/2378	809/1572	270/523	S/N	aGc/aAc		1		1	NPEPL1	HGNC	HGNC:16244	protein_coding	YES	CCDS46621.1	ENSP00000348395	Q8NDH3		UPI000036789E	NM_024663.3	deleterious(0.01)	possibly_damaging(0.506)	6/12		Pfam_domain:PF00883;Prints_domain:PR00481;Superfamily_domains:SSF53187																	MODERATE	1	SNV	1			1											PASS	CCTCAGCATCA	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	A	3	1	41	58701145	58701145	G	A	1	0	0	0	0	1	0	0	0	10622	971	34	3		3	NPEPL1	20	58701145	Missense_Mutation	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		58701145	5743022	22	584											
THOC2	57187	BI	GRCh38	chrX	123636084	123636084	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttgctatgaataccttttGcccgcctttagctgattggc	8	10	0	2	novel		TCGA-VD-A8KB-01A-11D-A39W-08	TCGA-VD-A8KB-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9baf009f-4121-4380-96f2-7458dc968b7e	4e2fc801-70e6-4d26-b168-ce1b3026ed5e	c.2013C>A	p.=	p.G671G	ENST00000245838	19/39	80	39	41	75			THOC2,synonymous_variant,p.G671G,ENST00000245838,NM_001081550.1,c.2013C>A,LOW,YES,,,-1;THOC2,synonymous_variant,p.G671G,ENST00000355725,,c.2013C>A,LOW,,,,-1;THOC2,synonymous_variant,p.G556G,ENST00000491737,,c.1668C>A,LOW,,,,-1	T	ENST00000245838	Transcript	synonymous_variant	synonymous_variant	2045/5609	2013/4782	671/1593	G	ggC/ggA		1		-1	THOC2	HGNC	HGNC:19073	protein_coding	YES	CCDS43988.1	ENSP00000245838	Q8NI27		UPI00001D7C42	NM_001081550.1			19/39																			LOW	1	SNV	5			1											PASS	CTTTTGCCCGC	8d52b2ef-2fad-431f-a403-bc9febe6d22b	ac059c90-c0aa-406e-97d3-14e81723c68d	ec41d4c1-3156-4ed2-907d-66fc7590b339	31771082-c094-4749-a9c7-80b67762f4d1			True	Unknown	T	2	4	41	123636084	123636084	G	T	1	0	0	0	0	0	0	0	1	16300	1333	46	5		5	THOC2	23	123636084	Silent	SNP	G	TCGA-VD-A8KB-01A-11D-A39W-08		123636084	32404811	23	585											
IFNLR1	163702	BI	GRCh38	chr1	24157781	24157781	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggggccctgactcgaggcgtCggcctgacccctctggtcag	15	15	2	2	rs543005854	by1000G;byCluster	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.912G>A	p.=	p.P304P	ENST00000327535	7/7	91	39	52	143			IFNLR1,synonymous_variant,p.P304P,ENST00000327535,NM_170743.3,c.912G>A,LOW,YES,,,-1;IFNLR1,synonymous_variant,p.P275P,ENST00000374421,NM_173064.2,c.825G>A,LOW,,,,-1;IFNLR1,3_prime_UTR_variant,,ENST00000327575,NM_173065.2,c.*46G>A,MODIFIER,,,,-1;IFNLR1,downstream_gene_variant,,ENST00000374419,,,MODIFIER,,,,-1;IFNLR1,downstream_gene_variant,,ENST00000374418,,,MODIFIER,,,,-1	T	ENST00000327535	Transcript	synonymous_variant	synonymous_variant	925/4549	912/1563	304/520	P	ccG/ccA	rs543005854	1		-1	IFNLR1	HGNC	HGNC:18584	protein_coding	YES	CCDS248.1	ENSP00000327824	Q8IU57		UPI000004D3FC	NM_170743.3			7/7			2e-04	0	0		0	0	0.001										LOW	1	SNV	1			1	6.589e-05	6.595e-05	9.612e-05	0.0001727	0	0.0003024	1.499e-05	0	0.0001216		PASS	GGCGTCGGCCT	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	2	4	42	24157781	24157781	C	T	1	0	0	0	0	0	0	0	1	7455	871	31	2		2	IFNLR1	1	24157781	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		24157781	224798641	1	586											
IL12RB2	3595	BI	GRCh38	chr1	67379991	67379991	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatcttcctttcagaaattCcctacagagtctcccaaaat	3	12	3	2	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1723C>A	p.Pro575Thr	p.P575T	ENST00000262345	13/16	64	45	19	61			IL12RB2,missense_variant,p.P575T,ENST00000262345,NM_001559.2,c.1723C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.904),1;IL12RB2,missense_variant,p.P575T,ENST00000541374,NM_001258216.1,c.1723C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.452),1;IL12RB2,missense_variant,p.P489T,ENST00000544434,NM_001258215.1,c.1465C>A,MODERATE,,tolerated(0.07),possibly_damaging(0.857),1;IL12RB2,missense_variant,p.P575T,ENST00000371000,NM_001258214.1,c.1723C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.743),1;IL12RB2,non_coding_transcript_exon_variant,,ENST00000465396,,n.64C>A,MODIFIER,,,,1	A	ENST00000262345	Transcript	missense_variant	missense_variant	2363/4040	1723/2589	575/862	P/T	Ccc/Acc		1		1	IL12RB2	HGNC	HGNC:5972	protein_coding	YES	CCDS638.1	ENSP00000262345	Q99665		UPI0000046B13	NM_001559.2	deleterious(0.01)	possibly_damaging(0.904)	13/16		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1											PASS	AAATTCCCTAC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	3	1	42	67379991	67379991	C	A	1	0	0	0	0	1	0	0	0	7535	869	30	5		5	IL12RB2	1	67379991	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	43222210	67379991	181576431	2	587											
CTTNBP2NL	55917	BI	GRCh38	chr1	112457109	112457109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatcgaaatctagccaacacTgccaatccaagaggtgacac	7	12	1	2	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1617T>C	p.=	p.T539T	ENST00000271277	6/6	90	51	39	85			CTTNBP2NL,synonymous_variant,p.T539T,ENST00000271277,NM_018704.2,c.1617T>C,LOW,YES,,,1;CTTNBP2NL,downstream_gene_variant,,ENST00000441739,,,MODIFIER,,,,1;CTTNBP2NL,non_coding_transcript_exon_variant,,ENST00000607039,,n.292T>C,MODIFIER,,,,1	C	ENST00000271277	Transcript	synonymous_variant	synonymous_variant	1842/5897	1617/1920	539/639	T	acT/acC		1		1	CTTNBP2NL	HGNC	HGNC:25330	protein_coding	YES	CCDS845.1	ENSP00000271277	Q9P2B4	A0A024R0C7	UPI000006ED23	NM_018704.2			6/6																			LOW	1	SNV	1			1											PASS	AACACTGCCAA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	C	2	2	42	112457109	112457109	T	C	1	0	0	0	0	0	0	0	1	3855	1567	55	4		4	CTTNBP2NL	1	112457109	Silent	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	45077118	112457109	136499313	3	588											
ADAMTS4	9507	BI	GRCh38	chr1	161194214	161194214	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcctctggtttgtctaagagAcagtgccctgggaagggggt	16	8	2	1	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1269T>G	p.Cys423Trp	p.C423W	ENST00000367996	5/9	48	32	16	52			ADAMTS4,missense_variant,p.C423W,ENST00000367996,NM_005099.4,c.1269T>G,MODERATE,YES,deleterious(0),probably_damaging(1),-1;ADAMTS4,downstream_gene_variant,,ENST00000367995,,,MODIFIER,,,,-1;ADAMTS4,non_coding_transcript_exon_variant,,ENST00000478394,,n.295T>G,MODIFIER,,,,-1;NDUFS2,upstream_gene_variant,,ENST00000496133,,,MODIFIER,,,,1;NDUFS2,upstream_gene_variant,,ENST00000479948,,,MODIFIER,,,,1	C	ENST00000367996	Transcript	missense_variant	missense_variant	1698/9773	1269/2514	423/837	C/W	tgT/tgG		1		-1	ADAMTS4	HGNC	HGNC:220	protein_coding	YES	CCDS1223.1	ENSP00000356975	O75173		UPI000014194C	NM_005099.4	deleterious(0)	probably_damaging(1)	5/9		Pfam_domain:PF01421;PROSITE_profiles:PS50215;Superfamily_domains:SSF55486																	MODERATE	1	SNV	1			1											PASS	AAGAGACAGTG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	C	3	2	42	161194214	161194214	A	C	1	0	0	0	0	1	0	0	0	312	273	10	5		5	ADAMTS4	1	161194214	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	48737105	161194214	87762208	4	589											
FBLN7	129804	BI	GRCh38	chr2	112185308	112185308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtgccccgagggcagcGgcaatgtgagctacgtgaag	16	10	0	3	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.916G>A	p.Gly306Ser	p.G306S	ENST00000331203	7/8	42	39	3	55			FBLN7,missense_variant,p.G306S,ENST00000331203,NM_153214.2,c.916G>A,MODERATE,YES,tolerated(0.15),benign(0.114),1;FBLN7,missense_variant,p.G306S,ENST00000409903,,c.916G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.595),1;FBLN7,missense_variant,p.G128S,ENST00000272559,,c.382G>A,MODERATE,,tolerated(0.15),benign(0.053),1;FBLN7,missense_variant,p.G260S,ENST00000409450,NM_001128165.1,c.778G>A,MODERATE,,tolerated(0.14),benign(0.005),1;FBLN7,missense_variant,p.G172S,ENST00000409667,,c.514G>A,MODERATE,,tolerated(0.24),benign(0.022),1;FBLN7,missense_variant,p.G200S,ENST00000441565,,c.598G>A,MODERATE,,tolerated(0.17),benign(0.017),1;RP11-399B17.1,upstream_gene_variant,,ENST00000624058,,,MODIFIER,YES,,,1	A	ENST00000331203	Transcript	missense_variant	missense_variant	1187/2301	916/1320	306/439	G/S	Ggc/Agc		1		1	FBLN7	HGNC	HGNC:26740	protein_coding	YES	CCDS2095.1	ENSP00000331411	Q53RD9			NM_153214.2	tolerated(0.15)	benign(0.114)	7/8		Pfam_domain:PF07645;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1											PASS	GCAGCGGCAAT	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	3	1	42	112185308	112185308	G	A	1	0	0	0	0	1	0	0	0	5564	1116	39	2		2	FBLN7	2	112185308	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		112185308	130008221	5	590											
DNER	92737	BI	GRCh38	chr2	229367000	229367000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgcggcaaatccccaCgatcaggatgatcagcataa	10	11	2	2	rs370587377		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1975G>A	p.Val659Met	p.V659M	ENST00000341772	12/13	19	12	7	29			DNER,missense_variant,p.V659M,ENST00000341772,NM_139072.3,c.1975G>A,MODERATE,YES,deleterious(0),probably_damaging(0.971),-1	T	ENST00000341772	Transcript	missense_variant	missense_variant	2110/3260	1975/2214	659/737	V/M	Gtg/Atg	rs370587377	1		-1	DNER	HGNC	HGNC:24456	protein_coding	YES	CCDS33390.1	ENSP00000345229	Q8NFT8		UPI0000048EB8	NM_139072.3	deleterious(0)	probably_damaging(0.971)	12/13		Transmembrane_helices:Tmhmm								0	1e-04								MODERATE	1	SNV	1			1											PASS	CCCCACGATCA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	3	4	42	229367000	229367000	C	T	1	0	0	0	0	1	0	0	0	4480	536	19	1		1	DNER	2	229367000	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	117181692	229367000	12826529	6	591											
PRDM8	56978	BI	GRCh38	chr4	80202310	80202310	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccccagcccagagccTcagcagcggtagcggcagcg	13	17	1	1	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.848T>A	p.Leu283His	p.L283H	ENST00000339711	10/10	15	8	7	16			PRDM8,missense_variant,p.L283H,ENST00000339711,NM_020226.3,c.848T>A,MODERATE,YES,deleterious_low_confidence(0.02),benign(0.322),1;PRDM8,missense_variant,p.L283H,ENST00000504452,,c.848T>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.322),1;PRDM8,missense_variant,p.L283H,ENST00000415738,NM_001099403.1,c.848T>A,MODERATE,,deleterious_low_confidence(0.02),benign(0.322),1;PRDM8,missense_variant,p.L283H,ENST00000515013,,c.848T>A,MODERATE,,,,1	A	ENST00000339711	Transcript	missense_variant	missense_variant	2079/4095	848/2070	283/689	L/H	cTc/cAc		1		1	PRDM8	HGNC	HGNC:13993	protein_coding	YES	CCDS43243.1	ENSP00000339764	Q9NQV8	A0A024RDC4		NM_020226.3	deleterious_low_confidence(0.02)	benign(0.322)	10/10		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50315																	MODERATE	1	SNV	1			1											PASS	GAGCCTCAGCA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	3	1	42	80202310	80202310	T	A	1	0	0	0	0	1	0	0	0	12594	1551	54	5		5	PRDM8	4	80202310	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08		80202310	110012245	7	592											
GRID2	2895	BI	GRCh38	chr4	93772342	93772342	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggtttcacttttggcaaCgtgcctgagcaccgaactgg	11	11	2	1	rs775585013	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.2868C>T	p.=	p.N956N	ENST00000282020	16/16	61	40	21	48			GRID2,synonymous_variant,p.N956N,ENST00000282020,NM_001510.3,c.2868C>T,LOW,YES,,,1;GRID2,synonymous_variant,p.N875N,ENST00000611049,,c.2625C>T,LOW,,,,1;GRID2,synonymous_variant,p.N861N,ENST00000510992,NM_001286838.1,c.2583C>T,LOW,,,,1	T	ENST00000282020	Transcript	synonymous_variant	synonymous_variant	3903/6117	2868/3024	956/1007	N	aaC/aaT	rs775585013	1		1	GRID2	HGNC	HGNC:4576	protein_coding	YES	CCDS3637.1	ENSP00000282020	O43424		UPI00001AEA78	NM_001510.3			16/16																			LOW	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0.0001156	0.0001513	0	0	0		PASS	GGCAACGTGCC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	2	4	42	93772342	93772342	C	T	1	0	0	0	0	0	0	0	1	6652	535	19	1		1	GRID2	4	93772342	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08	13570032	93772342	96442213	8	593											
SEMA5A	9037	BI	GRCh38	chr5	9054101	9054101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgggcagggctgcGtgttgcagagtgcctcttct	14	11	2	1	rs140400463	by1000G;byCluster;byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.2675C>T	p.Thr892Met	p.T892M	ENST00000382496	19/23	74	68	6	64			SEMA5A,missense_variant,p.T892M,ENST00000382496,NM_003966.2,c.2675C>T,MODERATE,YES,tolerated(0.23),probably_damaging(0.963),-1;MIR4636,upstream_gene_variant,,ENST00000582271,,,MODIFIER,YES,,,-1	A	ENST00000382496	Transcript	missense_variant	missense_variant	3341/11762	2675/3225	892/1074	T/M	aCg/aTg	rs140400463	1		-1	SEMA5A	HGNC	HGNC:10736	protein_coding	YES	CCDS3875.1	ENSP00000371936	Q13591	X5DR95	UPI000004F25D	NM_003966.2	tolerated(0.23)	probably_damaging(0.963)	19/23		Pfam_domain:PF00090;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895		8e-04	0.0058		0	0	0	0	2e-04								MODERATE	1	SNV	1			1	0.0002224	0.0002281	0.0001933	0.000779	0	0	0.0001827	0	0.0002732		panel_of_normals	GCTGCGTGTTG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1	common_in_exac;gdc_pon	COSM3429751	True	Unknown	A	3	1	42	9054101	9054101	G	A	1	0	0	0	0	1	0	0	0	14313	1145	40	1		1	SEMA5A	5	9054101	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		9054101	172484158	9	594											
SLC22A5	6584	BI	GRCh38	chr5	132378465	132378465	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggctccttcatttcaGggcagctgtcagacaggtaa	12	9	3	1	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.481G>T	p.Gly161Trp	p.G161W	ENST00000245407	2/10	171	107	64	159			SLC22A5,missense_variant,p.G161W,ENST00000245407,NM_003060.3,c.481G>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;SLC22A5,missense_variant,p.G185W,ENST00000435065,,c.553G>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;SLC22A5,missense_variant,p.G84W,ENST00000415928,,c.250G>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;SLC22A5,non_coding_transcript_exon_variant,,ENST00000461013,,n.2238G>T,MODIFIER,,,,1;SLC22A5,intron_variant,,ENST00000437841,,c.394-6863G>T,MODIFIER,,,,1	T	ENST00000245407	Transcript	missense_variant	missense_variant	702/3237	481/1674	161/557	G/W	Ggg/Tgg		1		1	SLC22A5	HGNC	HGNC:10969	protein_coding	YES	CCDS4154.1	ENSP00000245407	O76082			NM_003060.3	deleterious(0)	probably_damaging(1)	2/10		Transmembrane_helices:Tmhmm;Pfam_domain:PF00083;Pfam_domain:PF07690;TIGRFAM_domain:TIGR00898;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1											panel_of_normals	TTTCAGGGCAG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1	gdc_pon		True	Unknown	T	3	4	42	132378465	132378465	G	T	1	0	0	0	0	1	0	0	0	14723	1000	35	5		5	SLC22A5	5	132378465	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	123324364	132378465	49159794	10	595											
KDM3B	51780	BI	GRCh38	chr5	138415133	138415133	+	Splice_Region	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gaaatcatttctatttcagaGacagaagagatgggtgatga	11	4	3	5	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.3201G>A	p.=	p.E1067E	ENST00000314358	12/24	51	40	11	22			KDM3B,splice_region_variant,p.E1067E,ENST00000314358,NM_016604.3,c.3201G>A,LOW,YES,,,1;KDM3B,splice_region_variant,p.E65E,ENST00000542866,,c.195G>A,LOW,,,,1;KDM3B,upstream_gene_variant,,ENST00000508386,,,MODIFIER,,,,1;KDM3B,splice_region_variant,,ENST00000510866,,c.*2086G>A,LOW,,,,1;KDM3B,splice_region_variant,,ENST00000507996,,c.*554G>A,LOW,,,,1	A	ENST00000314358	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	3401/6813	3201/5286	1067/1761	E	gaG/gaA		1		1	KDM3B	HGNC	HGNC:1337	protein_coding	YES	CCDS34242.1	ENSP00000326563	Q7LBC6		UPI000020C6A8	NM_016604.3			12/24		Superfamily_domains:SSF57889																	LOW	1	SNV	1			1											PASS	TCAGAGACAGA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	5	1	42	138415133	138415133	G	A	1	0	0	0	0	0	0	1	0	8045	956	33	3		3	KDM3B	5	138415133	Splice_Region	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08	6036668	138415133	43123126	11	596											
PTK7	5754	BI	GRCh38	chr6	43143460	43143460	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagggccctggcagccctccCccctacaagatgatccagac	10	17	0	3	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.2091C>G	p.=	p.P697P	ENST00000230419	14/20	89	58	31	95			PTK7,synonymous_variant,p.P697P,ENST00000230419,NM_002821.4,c.2091C>G,LOW,,,,1;PTK7,synonymous_variant,p.P657P,ENST00000345201,NM_152880.3,c.1971C>G,LOW,,,,1;PTK7,synonymous_variant,p.P641P,ENST00000352931,NM_152882.3,c.1923C>G,LOW,,,,1;PTK7,synonymous_variant,p.P567P,ENST00000349241,NM_152881.3,c.1701C>G,LOW,,,,1;PTK7,synonymous_variant,p.P705P,ENST00000481273,NM_001270398.1,c.2115C>G,LOW,YES,,,1;PTK7,intron_variant,,ENST00000489707,,c.312-1760C>G,MODIFIER,,,,1;PTK7,upstream_gene_variant,,ENST00000473339,,,MODIFIER,,,,1;PTK7,downstream_gene_variant,,ENST00000481946,,,MODIFIER,,,,1;PTK7,synonymous_variant,p.P697P,ENST00000230418,,c.2091C>G,LOW,,,,1;PTK7,3_prime_UTR_variant,,ENST00000470019,,c.*1426C>G,MODIFIER,,,,1;PTK7,3_prime_UTR_variant,,ENST00000497957,,c.*88C>G,MODIFIER,,,,1;PTK7,3_prime_UTR_variant,,ENST00000494146,,c.*120C>G,MODIFIER,,,,1;PTK7,3_prime_UTR_variant,,ENST00000461100,,c.*92C>G,MODIFIER,,,,1;PTK7,non_coding_transcript_exon_variant,,ENST00000487673,,n.3328C>G,MODIFIER,,,,1;PTK7,non_coding_transcript_exon_variant,,ENST00000493339,,n.1113C>G,MODIFIER,,,,1;PTK7,upstream_gene_variant,,ENST00000461389,,,MODIFIER,,,,1;PTK7,downstream_gene_variant,,ENST00000470471,,,MODIFIER,,,,1	G	ENST00000230419	Transcript	synonymous_variant	synonymous_variant	2312/4272	2091/3213	697/1070	P	ccC/ccG		1		1	PTK7	HGNC	HGNC:9618	protein_coding		CCDS4884.1	ENSP00000230419	Q13308		UPI0000001BDB	NM_002821.4			14/20		Low_complexity_(Seg):Seg																	LOW		SNV	1			1											PASS	CCTCCCCCCTA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	G	2	3	42	43143460	43143460	C	G	1	0	0	0	0	0	0	0	1	12921	610	22	5		5	PTK7	6	43143460	Silent	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		43143460	127662519	12	597											
CPVL	54504	BI	GRCh38	chr7	29064228	29064228	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacatagtaaagctgatcctCaggttcctggcagaaggggc	12	10	1	2	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.970G>T	p.Glu324Ter	p.E324*	ENST00000265394	11/13	39	27	12	41			CPVL,stop_gained,p.E324*,ENST00000409850,,c.970G>T,HIGH,YES,,,-1;CPVL,stop_gained,p.E324*,ENST00000265394,NM_031311.3,c.970G>T,HIGH,,,,-1;CPVL,stop_gained,p.E324*,ENST00000396276,NM_019029.2,c.970G>T,HIGH,,,,-1;CPVL,stop_gained,p.E208*,ENST00000614864,,c.622G>T,HIGH,,,,-1;CPVL,stop_gained,p.E208*,ENST00000612187,,c.622G>T,HIGH,,,,-1;CPVL,stop_gained,p.E28*,ENST00000432534,,c.80G>T,HIGH,,,,-1;CPVL,intron_variant,,ENST00000455893,,c.132+7545G>T,MODIFIER,,,,-1;CPVL,downstream_gene_variant,,ENST00000448959,,,MODIFIER,,,,-1	A	ENST00000265394	Transcript	stop_gained	stop_gained	1089/2091	970/1431	324/476	E/*	Gag/Tag		1		-1	CPVL	HGNC	HGNC:14399	protein_coding		CCDS5419.1	ENSP00000265394	Q9H3G5	A0A024RA40	UPI0000048F1B	NM_031311.3			11/13		Pfam_domain:PF00450;Superfamily_domains:SSF53474																	HIGH		SNV	1			1											PASS	ATCCTCAGGTT	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	4	1	42	29064228	29064228	C	A	1	0	0	0	0	0	1	0	0	3633	835	29	5		5	CPVL	7	29064228	Nonsense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		29064228	130281745	13	598											
RPS25	6230	BI	GRCh38	chr11	119017471	119017471	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tagttgggaacttccttacaGagtttatcataggtagcttt	9	6	1	1	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.174C>G	p.=	p.L58L	ENST00000527673	3/5	62	44	18	66			RPS25,synonymous_variant,p.L58L,ENST00000527673,NM_001028.2,c.174C>G,LOW,YES,,,-1;TRAPPC4,upstream_gene_variant,,ENST00000533632,NM_016146.4,,MODIFIER,YES,,,1;TRAPPC4,upstream_gene_variant,,ENST00000533058,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000334418,NM_198489.2,,MODIFIER,YES,,,1;TRAPPC4,upstream_gene_variant,,ENST00000359005,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000434101,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000525303,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000528230,,,MODIFIER,,,,1;MIR3656,upstream_gene_variant,,ENST00000577421,,,MODIFIER,YES,,,1;CCDC84,downstream_gene_variant,,ENST00000580556,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000526141,,,MODIFIER,,,,1;RPS25,downstream_gene_variant,,ENST00000528547,,,MODIFIER,,,,-1;RPS25,3_prime_UTR_variant,,ENST00000532567,,c.*87C>G,MODIFIER,,,,-1;RPS25,non_coding_transcript_exon_variant,,ENST00000527853,,n.1221C>G,MODIFIER,,,,-1;RPS25,non_coding_transcript_exon_variant,,ENST00000524864,,n.968C>G,MODIFIER,,,,-1;RPS25,intron_variant,,ENST00000527791,,c.100-38C>G,MODIFIER,,,,-1;TRAPPC4,upstream_gene_variant,,ENST00000524797,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000527356,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000533149,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000526463,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000533787,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000531290,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000532132,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000447216,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000533012,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000525079,,,MODIFIER,,,,1;TRAPPC4,upstream_gene_variant,,ENST00000527680,,,MODIFIER,,,,1;CCDC84,downstream_gene_variant,,ENST00000583842,,,MODIFIER,,,,1	C	ENST00000527673	Transcript	synonymous_variant	synonymous_variant	580/835	174/378	58/125	L	ctC/ctG		1		-1	RPS25	HGNC	HGNC:10413	protein_coding	YES	CCDS8406.1	ENSP00000435096	P62851		UPI000000411C	NM_001028.2			3/5		Pfam_domain:PF03297;PROSITE_profiles:PS50318																	LOW	1	SNV	1			1											PASS	TTACAGAGTTT	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	C	2	2	42	119017471	119017471	G	C	1	0	0	0	0	0	0	0	1	13891	929	33	5		5	RPS25	11	119017471	Silent	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		119017471	16069151	14	599											
CLEC14A	161198	BI	GRCh38	chr14	38254818	38254818	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctactactgctgtgctcacaAatatgaagaccacggcagag	9	11	1	3	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1205T>A	p.Phe402Tyr	p.F402Y	ENST00000342213	1/1	46	43	3	44			CLEC14A,missense_variant,p.F402Y,ENST00000342213,NM_175060.2,c.1205T>A,MODERATE,YES,deleterious(0),benign(0.175),-1	T	ENST00000342213	Transcript	missense_variant	missense_variant	1552/2267	1205/1473	402/490	F/Y	tTt/tAt		1		-1	CLEC14A	HGNC	HGNC:19832	protein_coding	YES	CCDS9667.1	ENSP00000353013	Q86T13		UPI000000CBD4	NM_175060.2	deleterious(0)	benign(0.175)	1/1		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV				1											PASS	TCACAAATATG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			False	Unknown	T	3	4	42	38254818	38254818	A	T	1	0	0	0	0	1	0	0	0	3265	14	1	5		5	CLEC14A	14	38254818	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08		38254818	68788900	15	600											
CGNL1	84952	BI	GRCh38	chr15	57545624	57545624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagctcagcaaccggcGgctggagcggaaagtgaagg	15	10	3	1	rs757609826	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.3533G>A	p.Arg1178Gln	p.R1178Q	ENST00000281282	17/19	20	12	8	24			CGNL1,missense_variant,p.R1178Q,ENST00000281282,NM_032866.4&NM_001252335.1,c.3533G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1	A	ENST00000281282	Transcript	missense_variant	missense_variant	3611/7224	3533/3909	1178/1302	R/Q	cGg/cAg	rs757609826	1		1	CGNL1	HGNC	HGNC:25931	protein_coding	YES	CCDS10161.1	ENSP00000281282	Q0VF96		UPI000019B4EF	NM_032866.4;NM_001252335.1	deleterious(0)	probably_damaging(0.997)	17/19		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF01576																	MODERATE	1	SNV	1			1	4.118e-05	4.509e-05	0.0002176	0	0	0	1.612e-05	0	0.0001373		PASS	CCGGCGGCTGG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	A	3	1	42	57545624	57545624	G	A	1	0	0	0	0	1	0	0	0	3062	1116	39	2		2	CGNL1	15	57545624	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		57545624	44445565	16	601											
THSD4	79875	BI	GRCh38	chr15	71771142	71771142	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acatgactctaagtaacctcTgtgaccctcagttgaaacca	6	12	3	3	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.2848T>G	p.Cys950Gly	p.C950G	ENST00000355327	17/18	133	77	56	96			THSD4,missense_variant,p.C950G,ENST00000355327,NM_024817.2,c.2848T>G,MODERATE,YES,deleterious(0),probably_damaging(1),1;THSD4,missense_variant,p.C590G,ENST00000357769,NM_001286429.1,c.1768T>G,MODERATE,,deleterious(0.01),probably_damaging(0.99),1;THSD4,intron_variant,,ENST00000261862,,c.270-9400T>G,MODIFIER,,,,1;AC104938.1,upstream_gene_variant,,ENST00000621934,,,MODIFIER,YES,,,1;THSD4,downstream_gene_variant,,ENST00000567838,,,MODIFIER,,,,1	G	ENST00000355327	Transcript	missense_variant	missense_variant	2982/9200	2848/3057	950/1018	C/G	Tgt/Ggt		1		1	THSD4	HGNC	HGNC:25835	protein_coding	YES	CCDS10238.2	ENSP00000347484	Q6ZMP0		UPI00001A797D	NM_024817.2	deleterious(0)	probably_damaging(1)	17/18		Pfam_domain:PF00090;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1											PASS	ACCTCTGTGAC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	G	3	3	42	71771142	71771142	T	G	1	0	0	0	0	1	0	0	0	16312	1580	55	5		5	THSD4	15	71771142	Missense_Mutation	SNP	T	TCGA-VD-A8KD-01A-11D-A39W-08	14225518	71771142	30220047	17	602											
PRKCB	5579	BI	GRCh38	chr16	24185548	24185548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagtctatgtccaaggaagCtgtggccatctgcaaagggg	13	9	2	0	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1703C>T	p.Ala568Val	p.A568V	ENST00000321728	15/17	67	38	29	60			PRKCB,missense_variant,p.A568V,ENST00000303531,NM_002738.6,c.1703C>T,MODERATE,YES,deleterious(0),probably_damaging(0.975),1;PRKCB,missense_variant,p.A568V,ENST00000321728,NM_212535.2,c.1703C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;PRKCB,missense_variant,p.A7V,ENST00000466124,,c.18C>T,MODERATE,,deleterious(0.01),probably_damaging(0.991),1;PRKCB,downstream_gene_variant,,ENST00000472066,,,MODIFIER,,,,1;PRKCB,non_coding_transcript_exon_variant,,ENST00000487674,,n.674C>T,MODIFIER,,,,1	T	ENST00000321728	Transcript	missense_variant	missense_variant	1878/2689	1703/2016	568/671	A/V	gCt/gTt		1		1	PRKCB	HGNC	HGNC:9395	protein_coding		CCDS10618.1	ENSP00000318315	P05771		UPI000012DF67	NM_212535.2	deleterious(0)	probably_damaging(0.999)	15/17		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112;PIRSF_domain:PIRSF000550																	MODERATE		SNV	1			1											PASS	GGAAGCTGTGG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	3	4	42	24185548	24185548	C	T	1	0	0	0	0	1	0	0	0	12641	797	28	3		3	PRKCB	16	24185548	Missense_Mutation	SNP	C	TCGA-VD-A8KD-01A-11D-A39W-08		24185548	66152797	18	603											
CEP192	55125	BI	GRCh38	chr18	13096256	13096256	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgagatttgagctgtgctGgccagcgcattgcctcacag	12	11	1	2	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.6506G>T	p.Trp2169Leu	p.W2169L	ENST00000506447	36/45	76	50	26	57			CEP192,missense_variant,p.W2169L,ENST00000506447,NM_032142.3,c.6506G>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;CEP192,missense_variant,p.W1694L,ENST00000325971,,c.5081G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CEP192,missense_variant,p.W1708L,ENST00000511820,,c.5122G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;CEP192,3_prime_UTR_variant,,ENST00000430049,,c.*498G>T,MODIFIER,,,,1;CEP192,non_coding_transcript_exon_variant,,ENST00000540847,,n.1111G>T,MODIFIER,,,,1;CEP192,downstream_gene_variant,,ENST00000507254,,,MODIFIER,,,,1;CEP192,missense_variant,p.W1769L,ENST00000510237,,c.5306G>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;CEP192,missense_variant,p.W717L,ENST00000589993,,c.2149G>T,MODERATE,,deleterious(0.05),probably_damaging(0.994),1;CEP192,3_prime_UTR_variant,,ENST00000513432,,c.*6022G>T,MODIFIER,,,,1;CEP192,downstream_gene_variant,,ENST00000508150,,,MODIFIER,,,,1	T	ENST00000506447	Transcript	missense_variant	missense_variant	6586/7960	6506/7614	2169/2537	W/L	tGg/tTg		1		1	CEP192	HGNC	HGNC:25515	protein_coding	YES	CCDS32792.2	ENSP00000427550	Q8TEP8		UPI0001B09235	NM_032142.3	deleterious(0)	probably_damaging(0.999)	36/45																			MODERATE	1	SNV	5			1											PASS	GTGCTGGCCAG	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	3	4	42	13096256	13096256	G	T	1	0	0	0	0	1	0	0	0	2967	1357	47	5		5	CEP192	18	13096256	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		13096256	67277029	19	604											
ZNF568	374900	BI	GRCh38	chr19	36997036	36997036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatccatacgggtgagAaaccccataaatgtaaggaa	9	7	0	2	novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1345A>G	p.Lys449Glu	p.K449E	ENST00000617745	8/8	4	3	1	10			ZNF568,missense_variant,p.K449E,ENST00000617745,NM_001204838.1,c.1345A>G,MODERATE,,deleterious(0),benign(0.087),1;ZNF568,missense_variant,p.K385E,ENST00000455427,NM_001204839.1,c.1153A>G,MODERATE,,deleterious(0),benign(0.319),1;ZNF568,missense_variant,p.K449E,ENST00000444991,,c.1345A>G,MODERATE,,deleterious(0),benign(0.158),1;ZNF568,missense_variant,p.K317E,ENST00000433993,,c.949A>G,MODERATE,,,,1;ZNF568,downstream_gene_variant,,ENST00000455817,,,MODIFIER,,,,1;ZNF568,downstream_gene_variant,,ENST00000588596,,,MODIFIER,,,,1;ZNF568,non_coding_transcript_exon_variant,,ENST00000591887,,n.1514A>G,MODIFIER,,,,1	G	ENST00000617745	Transcript	missense_variant	missense_variant	1545/2441	1345/1908	449/635	K/E	Aaa/Gaa		1		1	ZNF568	HGNC	HGNC:25392	protein_coding		CCDS74351.1	ENSP00000482444		A0A087WZ84	UPI0001FD28F8	NM_001204838.1	deleterious(0)	benign(0.087)	8/8		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	MODERATE		SNV	5			1											PASS	GTGAGAAACCC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			False	Unknown	G	3	3	42	36997036	36997036	A	G	1	0	0	0	0	1	0	0	0	18573	247	9	4		4	ZNF568	19	36997036	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08		36997036	21620580	20	605											
TIMM50	92609	BI	GRCh38	chr19	39480713	39480728	+	5'Flank	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-													tagtcagaagcaaacgcgccTgcggcaatccgcccgatgcc					novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f				ENST00000607714		23	14	9	39			TIMM50,frameshift_variant,p.C57Mfs*122,ENST00000544017,NM_001001563.1,c.169_184delTGCGGCAATCCGCCCG,HIGH,YES,,,1;TIMM50,frameshift_variant,p.C57Mfs*122,ENST00000314349,,c.169_184delTGCGGCAATCCGCCCG,HIGH,,,,1;SUPT5H,downstream_gene_variant,,ENST00000599117,,,MODIFIER,YES,,,1;SUPT5H,downstream_gene_variant,,ENST00000359191,,,MODIFIER,,,,1;SUPT5H,downstream_gene_variant,,ENST00000598725,NM_003169.3,,MODIFIER,,,,1;SUPT5H,downstream_gene_variant,,ENST00000432763,NM_001130824.1&NM_001111020.2,,MODIFIER,,,,1;SUPT5H,downstream_gene_variant,,ENST00000402194,NM_001130825.1,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000607714,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000599794,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000602028,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000601403,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000594583,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000597666,,,MODIFIER,,,,1;TIMM50,5_prime_UTR_variant,,ENST00000601358,,c.-141_-126delTGCGGCAATCCGCCCG,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000595961,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000602265,,,MODIFIER,,,,1;SUPT5H,downstream_gene_variant,,ENST00000600818,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000595286,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000596239,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000599733,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000598125,,,MODIFIER,,,,1;TIMM50,upstream_gene_variant,,ENST00000597782,,,MODIFIER,,,,1	-	ENST00000607714	Transcript	upstream_gene_variant	upstream_gene_variant	-/1338	-/1062	-/353				1	104	1	TIMM50	HGNC	HGNC:23656	protein_coding			ENSP00000475531	Q3ZCQ8		UPI0000202335																							MODIFIER		deletion	1			1											PASS	CGCGCCTGCGGCAATCCGCCCGATGCC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	-	6	5	42	39480713	39480713	TGCGGCAATCCGCCCG	-	0	1	1	0	1	0	0	0	0	16353	1580	55	0		0	TIMM50	19	39480713	5'Flank	DEL	TGCGGCAATCCGCCCG	TCGA-VD-A8KD-01A-11D-A39W-08	2483677	39480713	19136903	21	606											
PLCB4	5332	BI	GRCh38	chr20	9409106	9409106	+	Missense_Mutation	SNP	G	G	T													accccaagggaggccgagtcGattccagtaattacatgcct							TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1888G>T	p.Asp630Tyr	p.D630Y	ENST00000278655	21/36	84	52	32	71			PLCB4,missense_variant,p.D630Y,ENST00000378501,NM_000933.3,c.1888G>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;PLCB4,missense_variant,p.D630Y,ENST00000378493,,c.1888G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;PLCB4,missense_variant,p.D642Y,ENST00000378473,NM_001172646.1,c.1924G>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;PLCB4,missense_variant,p.D630Y,ENST00000278655,NM_182797.2,c.1888G>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;PLCB4,missense_variant,p.D642Y,ENST00000414679,,c.1924G>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,,n.1903G>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,,n.1665G>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,,n.1615G>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,,n.1579G>T,MODIFIER,,,,1	T	ENST00000278655	Transcript	missense_variant	missense_variant	1966/5430	1888/3528	630/1175	D/Y	Gat/Tat		1		1	PLCB4	HGNC	HGNC:9059	protein_coding		CCDS13105.1	ENSP00000278655	Q15147		UPI0000131A94	NM_182797.2	deleterious(0)	probably_damaging(0.999)	21/36		Pfam_domain:PF00387;Prints_domain:PR00390;PROSITE_profiles:PS50008;SMART_domains:SM00149;Superfamily_domains:SSF51695;PIRSF_domain:PIRSF000956																	MODERATE		SNV	1			1											PASS	GAGTCGATTCC	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1		COSM1666823	True	Unknown	T	3	4	42	9409106	9409106	G	T	1	0	0	0	0	1	0	0	0	12124	1058	37	5		5	PLCB4	20	9409106	Missense_Mutation	SNP	G	TCGA-VD-A8KD-01A-11D-A39W-08		9409106	55035061	22	607	8	2									
PLCB4	5332	BI	GRCh38	chr20	9409107	9409107	+	Missense_Mutation	SNP	A	A	T													ccccaagggaggccgagtcgAttccagtaattacatgcctc					novel		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	c.1889A>T	p.Asp630Val	p.D630V	ENST00000278655	21/36	84	51	33	70			PLCB4,missense_variant,p.D630V,ENST00000378501,NM_000933.3,c.1889A>T,MODERATE,YES,deleterious(0),probably_damaging(0.917),1;PLCB4,missense_variant,p.D630V,ENST00000378493,,c.1889A>T,MODERATE,,deleterious(0),probably_damaging(0.983),1;PLCB4,missense_variant,p.D642V,ENST00000378473,NM_001172646.1,c.1925A>T,MODERATE,,deleterious(0),possibly_damaging(0.903),1;PLCB4,missense_variant,p.D630V,ENST00000278655,NM_182797.2,c.1889A>T,MODERATE,,deleterious(0),probably_damaging(0.983),1;PLCB4,missense_variant,p.D642V,ENST00000414679,,c.1925A>T,MODERATE,,deleterious(0),possibly_damaging(0.903),1;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,,n.1904A>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,,n.1666A>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,,n.1616A>T,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,,n.1580A>T,MODIFIER,,,,1	T	ENST00000278655	Transcript	missense_variant	missense_variant	1967/5430	1889/3528	630/1175	D/V	gAt/gTt		1		1	PLCB4	HGNC	HGNC:9059	protein_coding		CCDS13105.1	ENSP00000278655	Q15147		UPI0000131A94	NM_182797.2	deleterious(0)	probably_damaging(0.983)	21/36		Pfam_domain:PF00387;Prints_domain:PR00390;PROSITE_profiles:PS50008;SMART_domains:SM00149;Superfamily_domains:SSF51695;PIRSF_domain:PIRSF000956																	MODERATE		SNV	1			1											PASS	AGTCGATTCCA	fc711a92-2586-46c1-a93c-72ab4188e6c5	5a89fdaa-f63b-4ea3-91be-7767148c68b5	f3f07549-00e8-458f-9313-d20ff632e354	73b3e4dd-c53d-4fe3-8607-ee462c9cbbd1			True	Unknown	T	3	4	42	9409107	9409107	A	T	1	0	0	0	0	1	0	0	0	12124	333	12	5		5	PLCB4	20	9409107	Missense_Mutation	SNP	A	TCGA-VD-A8KD-01A-11D-A39W-08	1	9409107	55035060	23	608	8	2									
VAV3	10451	BI	GRCh38	chr1	107574154	107574154	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctcatatctcttgcacagaAgtcataccgagcgatggcaa	8	11	3	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.2395T>A	p.Phe799Ile	p.F799I	ENST00000370056	26/27	69	42	27	70			VAV3,missense_variant,p.F799I,ENST00000370056,NM_006113.4,c.2395T>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;VAV3,missense_variant,p.F827I,ENST00000527011,,c.2479T>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;VAV3,missense_variant,p.F239I,ENST00000415432,NM_001079874.1,c.715T>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;VAV3,non_coding_transcript_exon_variant,,ENST00000343258,,n.2241T>A,MODIFIER,,,,-1;VAV3,non_coding_transcript_exon_variant,,ENST00000525460,,n.893T>A,MODIFIER,,,,-1;VAV3,3_prime_UTR_variant,,ENST00000529413,,c.*510T>A,MODIFIER,,,,-1	T	ENST00000370056	Transcript	missense_variant	missense_variant	2670/4990	2395/2544	799/847	F/I	Ttc/Atc		1		-1	VAV3	HGNC	HGNC:12659	protein_coding	YES	CCDS785.1	ENSP00000359073	Q9UKW4		UPI0000138212	NM_006113.4	deleterious(0)	probably_damaging(0.999)	26/27		Pfam_domain:PF07653;Pfam_domain:PF00018;Prints_domain:PR00452;PROSITE_profiles:PS50002;SMART_domains:SM00326;Superfamily_domains:SSF55550;Superfamily_domains:SSF50044																	MODERATE	1	SNV	1			1											PASS	ACAGAAGTCAT	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	3	4	43	107574154	107574154	A	T	1	0	0	0	0	1	0	0	0	17678	72	3	5		5	VAV3	1	107574154	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		107574154	141382268	1	609											
CR1L	1379	BI	GRCh38	chr1	207677402	207677402	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccccagatcaatgcaatgtCccggaatggcttccatttgc	8	13	1	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.111C>T	p.=	p.V37V	ENST00000508064	2/12	94	52	42	73			CR1L,synonymous_variant,p.V37V,ENST00000508064,NM_175710.1,c.111C>T,LOW,YES,,,1;CR1L,non_coding_transcript_exon_variant,,ENST00000530905,,n.141C>T,MODIFIER,,,,1;CR1L,non_coding_transcript_exon_variant,,ENST00000430248,,n.115C>T,MODIFIER,,,,1;CR1L,non_coding_transcript_exon_variant,,ENST00000531844,,n.232C>T,MODIFIER,,,,1;CR1L,upstream_gene_variant,,ENST00000294997,,,MODIFIER,,,,1	T	ENST00000508064	Transcript	synonymous_variant	synonymous_variant	171/1788	111/1710	37/569	V	gtC/gtT		1		1	CR1L	HGNC	HGNC:2335	protein_coding	YES	CCDS44310.1	ENSP00000421736	Q2VPA4		UPI0000DD792A	NM_175710.1			2/12		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	LOW	1	SNV	2			1											PASS	AATGTCCCGGA	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	2	4	43	207677402	207677402	C	T	1	0	0	0	0	0	0	0	1	3639	842	30	3		3	CR1L	1	207677402	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	100103248	207677402	41279020	2	610											
STAB1	23166	BI	GRCh38	chr3	52503472	52503472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtgtctgcccaaggacCcatgcactgacaaccttggt	11	12	1	1	rs756229273		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.823C>T	p.Pro275Ser	p.P275S	ENST00000321725	8/69	34	31	3	33			STAB1,missense_variant,p.P275S,ENST00000321725,NM_015136.2,c.823C>T,MODERATE,YES,deleterious(0.03),probably_damaging(0.961),1;STAB1,non_coding_transcript_exon_variant,,ENST00000481607,,n.878C>T,MODIFIER,,,,1;STAB1,downstream_gene_variant,,ENST00000479355,,,MODIFIER,,,,1;STAB1,upstream_gene_variant,,ENST00000484850,,,MODIFIER,,,,1	T	ENST00000321725	Transcript	missense_variant	missense_variant	899/7928	823/7713	275/2570	P/S	Cca/Tca	rs756229273	1		1	STAB1	HGNC	HGNC:18628	protein_coding	YES	CCDS33768.1	ENSP00000312946	Q9NY15		UPI0000140C12	NM_015136.2	deleterious(0.03)	probably_damaging(0.961)	8/69		PROSITE_profiles:PS50311;SMART_domains:SM00181;Superfamily_domains:SSF57196																	MODERATE	1	SNV	1			1	8.237e-06	8.311e-06	0	0	0	0	1.518e-05	0	0		PASS	AGGACCCATGC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	3	4	43	52503472	52503472	C	T	1	0	0	0	0	1	0	0	0	15615	623	22	3		3	STAB1	3	52503472	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52503472	145792087	3	611											
PCDH10	57575	BI	GRCh38	chr4	133163050	133163050	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcggtgctggatgccttcTtttgtcccttctgatggacg	12	10	2	1			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.2871T>C	p.=	p.S957S	ENST00000264360	4/5	76	45	31	55			PCDH10,synonymous_variant,p.S957S,ENST00000264360,NM_032961.1,c.2871T>C,LOW,YES,,,1;PCDH10,non_coding_transcript_exon_variant,,ENST00000511112,,n.205T>C,MODIFIER,,,,1	C	ENST00000264360	Transcript	synonymous_variant	synonymous_variant	3697/8489	2871/3123	957/1040	S	tcT/tcC		1		1	PCDH10	HGNC	HGNC:13404	protein_coding	YES	CCDS34063.1	ENSP00000264360	Q9P2E7	X5D999	UPI0000161C61	NM_032961.1			4/5																			LOW	1	SNV	1			1											PASS	CCTTCTTTTGT	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab		COSM732573	True	Unknown	C	2	2	43	133163050	133163050	T	C	1	0	0	0	0	0	0	0	1	11594	1596	56	4		4	PCDH10	4	133163050	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		133163050	57051505	4	612											
LIFR	3977	BI	GRCh38	chr5	38496548	38496548	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatctgatgaacacgaTacattgtaggaaagtatttt	7	7	2	2	rs183990367	by1000G;byCluster	TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.1719A>G	p.=	p.V573V	ENST00000263409	13/20	87	46	41	79			LIFR,synonymous_variant,p.V573V,ENST00000263409,NM_002310.5,c.1719A>G,LOW,YES,,,-1;LIFR,synonymous_variant,p.V573V,ENST00000453190,NM_001127671.1,c.1719A>G,LOW,,,,-1;LIFR,non_coding_transcript_exon_variant,,ENST00000503088,,n.1882A>G,MODIFIER,,,,-1;LIFR,intron_variant,,ENST00000506003,,c.111-14A>G,MODIFIER,,,,-1	C	ENST00000263409	Transcript	synonymous_variant	synonymous_variant	1882/10089	1719/3294	573/1097	V	gtA/gtG	rs183990367	1		-1	LIFR	HGNC	HGNC:6597	protein_coding	YES	CCDS3927.1	ENSP00000263409	P42702		UPI000004CAC2	NM_002310.5			13/20		PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265		0	0		0	0.001	0										LOW	1	SNV	1			1	8.236e-06	8.237e-06	0	0	0	0.0001512	0	0	0		PASS	CACGATACATT	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab		COSM449624;COSM449625	True	Unknown	C	2	2	43	38496548	38496548	T	C	1	0	0	0	0	0	0	0	1	8689	1393	49	4		4	LIFR	5	38496548	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		38496548	143041711	5	613											
F12	2161	BI	GRCh38	chr5	177404397	177404397	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagcaccacgggcggaTgtcgttgtccgggttcctgt	14	12	0	0	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.817A>T	p.Ile273Phe	p.I273F	ENST00000253496	9/14	34	22	12	27			F12,missense_variant,p.I273F,ENST00000253496,NM_000505.3,c.817A>T,MODERATE,YES,deleterious(0.04),benign(0.148),-1;GRK6,intron_variant,,ENST00000502598,,c.-45+871T>A,MODIFIER,,,,1;GRK6,upstream_gene_variant,,ENST00000506296,,,MODIFIER,,,,1;PFN3,upstream_gene_variant,,ENST00000358571,NM_001029886.2,,MODIFIER,YES,,,-1;F12,upstream_gene_variant,,ENST00000514943,,,MODIFIER,,,,-1;F12,non_coding_transcript_exon_variant,,ENST00000510358,,n.76A>T,MODIFIER,,,,-1;F12,non_coding_transcript_exon_variant,,ENST00000502854,,n.76A>T,MODIFIER,,,,-1;F12,non_coding_transcript_exon_variant,,ENST00000503736,,n.189A>T,MODIFIER,,,,-1;F12,upstream_gene_variant,,ENST00000504406,,,MODIFIER,,,,-1	A	ENST00000253496	Transcript	missense_variant	missense_variant	866/2049	817/1848	273/615	I/F	Atc/Ttc		1		-1	F12	HGNC	HGNC:3530	protein_coding	YES	CCDS34302.1	ENSP00000253496	P00748		UPI000048055F	NM_000505.3	deleterious(0.04)	benign(0.148)	9/14		Pfam_domain:PF00051;Prints_domain:PR00018;PROSITE_profiles:PS50070;SMART_domains:SM00130;Superfamily_domains:SSF57440;PIRSF_domain:PIRSF001146																	MODERATE	1	SNV	1			1											PASS	GCGGATGTCGT	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	A	3	1	43	177404397	177404397	T	A	1	0	0	0	0	1	0	0	0	5207	1464	51	5		5	F12	5	177404397	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	138907849	177404397	4133862	6	614											
EFHC1	114327	BI	GRCh38	chr6	52454208	52454208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaattcgagaggtccaCgaacggaatgatgggagaga	16	5	0	3	rs752122624	byFrequency	TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.837C>T	p.=	p.H279H	ENST00000371068	5/11	134	116	18	78			EFHC1,synonymous_variant,p.H279H,ENST00000371068,NM_018100.3,c.837C>T,LOW,YES,,,1;EFHC1,synonymous_variant,p.H260H,ENST00000538167,NM_001172420.1,c.780C>T,LOW,,,,1;EFHC1,3_prime_UTR_variant,,ENST00000480623,,c.*1257C>T,MODIFIER,,,,1	T	ENST00000371068	Transcript	synonymous_variant	synonymous_variant	940/5470	837/1923	279/640	H	caC/caT	rs752122624	1		1	EFHC1	HGNC	HGNC:16406	protein_coding	YES	CCDS4942.1	ENSP00000360107	Q5JVL4	B2CKC5	UPI0000141099	NM_018100.3			5/11		Pfam_domain:PF06565;SMART_domains:SM00676																	LOW	1	SNV	1			1	2.471e-05	2.471e-05	0	0	0	0	0	0	0.0001817		PASS	GTCCACGAACG	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	2	4	43	52454208	52454208	C	T	1	0	0	0	0	0	0	0	1	4781	535	19	1		1	EFHC1	6	52454208	Silent	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		52454208	118351771	7	615											
QKI	9444	BI	GRCh38	chr6	163478898	163478898	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aatgagggataaaaaaaaggTaagtccttgaaaatggacta	10	3	0	2	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.402+2T>A		p.X134_splice	ENST00000361752		121	104	17	60			QKI,splice_donor_variant,p.X134_splice,ENST00000361752,NM_006775.2,c.402+2T>A,HIGH,YES,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000392127,NM_206855.2,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000275262,NM_206854.2,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000453779,NM_206853.2,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000361195,NM_001301085.1,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000424802,,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X79_splice,ENST00000544823,,c.237+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X79_splice,ENST00000537041,,c.237+2T>A,HIGH,,,,1;QKI,splice_donor_variant,p.X79_splice,ENST00000544436,,c.237+2T>A,HIGH,,,,1;QKI,intron_variant,,ENST00000537883,,c.91+23477T>A,MODIFIER,,,,1;QKI,downstream_gene_variant,,ENST00000537124,,,MODIFIER,,,,1;QKI,splice_donor_variant,p.X134_splice,ENST00000361758,,c.402+2T>A,HIGH,,,,1;QKI,splice_donor_variant,,ENST00000545607,,c.*112+2T>A,HIGH,,,,1;QKI,splice_donor_variant,,ENST00000545346,,c.*282+2T>A,HIGH,,,,1	A	ENST00000361752	Transcript	splice_donor_variant	splice_donor_variant	-/9463	402/1026	134/341				1		1	QKI	HGNC	HGNC:21100	protein_coding	YES	CCDS5285.1	ENSP00000355094	Q96PU8		UPI0000029EBD	NM_006775.2				3/7																		HIGH	1	SNV	1			1											PASS	AAAGGTAAGTC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab	NonExonic		True	Unknown	A	5	1	43	163478898	163478898	T	A	1	0	0	0	0	0	0	1	0	13028	1652	57	5		5	QKI	6	163478898	Splice_Site	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08	111024690	163478898	7327081	8	616											
KCNU1	157855	BI	GRCh38	chr8	36834814	36834814	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaggcatgcctgattaTagccaatcctttgtgcagtg	11	9	0	2	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.1241T>C	p.Ile414Thr	p.I414T	ENST00000399881	12/27	24	19	5	19			KCNU1,missense_variant,p.I414T,ENST00000399881,NM_001031836.2,c.1241T>C,MODERATE,YES,deleterious(0),benign(0.372),1;KCNU1,missense_variant,p.I414T,ENST00000522372,,c.1241T>C,MODERATE,,deleterious(0),possibly_damaging(0.451),1	C	ENST00000399881	Transcript	missense_variant	missense_variant	1278/3695	1241/3450	414/1149	I/T	aTa/aCa		1		1	KCNU1	HGNC	HGNC:18867	protein_coding	YES	CCDS55220.1	ENSP00000382770	A8MYU2		UPI0000F079EF	NM_001031836.2	deleterious(0)	benign(0.372)	12/27		Prints_domain:PR01449;Superfamily_domains:SSF51735																	MODERATE	1	SNV	2			1											PASS	GATTATAGCCA	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	C	3	2	43	36834814	36834814	T	C	1	0	0	0	0	1	0	0	0	8009	1406	49	4		4	KCNU1	8	36834814	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		36834814	108303822	9	617											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	144	49	95	106			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab		COSM28758	True	Unknown	G	3	3	43	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		77794572	60600145	10	618											
CPEB3	22849	BI	GRCh38	chr10	92081501	92081501	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatcattgccagttcaActgcaaaaaaaaaacaaaac	4	10	2	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.1688T>C	p.Val563Ala	p.V563A	ENST00000265997	9/10	38	20	18	41			CPEB3,missense_variant,p.V549A,ENST00000412050,NM_001178137.1,c.1646T>C,MODERATE,,tolerated(0.12),benign(0.007),-1;CPEB3,missense_variant,p.V563A,ENST00000614585,,c.1688T>C,MODERATE,YES,tolerated(0.11),benign(0.022),-1;CPEB3,missense_variant,p.V563A,ENST00000265997,NM_014912.4,c.1688T>C,MODERATE,,tolerated(0.11),benign(0.022),-1	G	ENST00000265997	Transcript	missense_variant	missense_variant;splice_region_variant	1861/4851	1688/2097	563/698	V/A	gTt/gCt		1		-1	CPEB3	HGNC	HGNC:21746	protein_coding		CCDS31246.1	ENSP00000265997	Q8NE35		UPI000013F7DE	NM_014912.4	tolerated(0.11)	benign(0.022)	9/10		PROSITE_profiles:PS50102;SMART_domains:SM00360;Superfamily_domains:SSF54928																	MODERATE		SNV	1			1											PASS	GTTCAACTGCA	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	G	3	3	43	92081501	92081501	A	G	1	0	0	0	0	1	0	0	0	3596	57	2	4		4	CPEB3	10	92081501	Missense_Mutation	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		92081501	41715921	11	619											
TECTA	7007	BI	GRCh38	chr11	121109378	121109378	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	accatggagcctgccatcttGaaaagagccaccaaggacat	9	12	1	2	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.366G>T	p.Leu122Phe	p.L122F	ENST00000264037	3/23	40	36	4	36			TECTA,missense_variant,p.L122F,ENST00000392793,,c.366G>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;TECTA,missense_variant,p.L122F,ENST00000264037,NM_005422.2,c.366G>T,MODERATE,,deleterious(0),probably_damaging(0.998),1	T	ENST00000264037	Transcript	missense_variant	missense_variant	366/6468	366/6468	122/2155	L/F	ttG/ttT		1		1	TECTA	HGNC	HGNC:11720	protein_coding		CCDS8434.1	ENSP00000264037	O75443		UPI000045659D	NM_005422.2	deleterious(0)	probably_damaging(0.998)	3/23		SMART_domains:SM00539																	MODERATE		SNV	2			1											PASS	ATCTTGAAAAG	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	3	4	43	121109378	121109378	G	T	1	0	0	0	0	1	0	0	0	16158	1281	45	5		5	TECTA	11	121109378	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		121109378	13977244	12	620											
RAB20	55647	BI	GRCh38	chr13	110523940	110523940	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgcttaggtgcccTtggggagacacggtccccag	13	14	0	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.430A>C	p.=	p.R144R	ENST00000267328	2/2	64	36	28	71			RAB20,synonymous_variant,p.R144R,ENST00000267328,NM_017817.1,c.430A>C,LOW,YES,,,-1	G	ENST00000267328	Transcript	synonymous_variant	synonymous_variant	644/1518	430/705	144/234	R	Agg/Cgg		1		-1	RAB20	HGNC	HGNC:18260	protein_coding	YES	CCDS9512.1	ENSP00000267328	Q9NX57		UPI0000001299	NM_017817.1			2/2		Pfam_domain:PF00071;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	TGCCCTTGGGG	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	G	2	3	43	110523940	110523940	T	G	1	0	0	0	0	0	0	0	1	13065	1608	56	5		5	RAB20	13	110523940	Silent	SNP	T	TCGA-VD-A8KE-01A-11D-A39W-08		110523940	3840388	13	621											
TPPP2	122664	BI	GRCh38	chr14	21030714	21030714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatggatggcaagacaGtcacctccacggacgtggac	12	12	2	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.133G>A	p.Val45Ile	p.V45I	ENST00000321760	2/4	24	12	12	32			TPPP2,missense_variant,p.V45I,ENST00000321760,NM_173846.4,c.133G>A,MODERATE,YES,tolerated(0.08),benign(0.169),1;TPPP2,missense_variant,p.V45I,ENST00000530140,,c.133G>A,MODERATE,,tolerated(0.08),benign(0.169),1;TPPP2,missense_variant,p.V45I,ENST00000460647,,c.133G>A,MODERATE,,tolerated(0.18),benign(0.262),1;TPPP2,missense_variant,p.V45I,ENST00000472458,,c.133G>A,MODERATE,,tolerated(0.1),benign(0.262),1;TPPP2,missense_variant,p.V40I,ENST00000481535,,c.118G>A,MODERATE,,tolerated(0.1),benign(0.068),1;NDRG2,intron_variant,,ENST00000403829,NM_001282211.1,c.25-7393C>T,MODIFIER,,,,-1;NDRG2,intron_variant,,ENST00000555026,,c.-6-7393C>T,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000350792,NM_016250.2,,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000298687,NM_201535.1,,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000397847,NM_001282215.1,,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000397858,NM_201537.1,,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000360463,NM_201536.1,,MODIFIER,,,,-1;RNASE13,downstream_gene_variant,,ENST00000382951,NM_001012264.3,,MODIFIER,YES,,,-1;NDRG2,upstream_gene_variant,,ENST00000556974,,,MODIFIER,,,,-1;NDRG2,upstream_gene_variant,,ENST00000554419,,,MODIFIER,,,,-1;TPPP2,upstream_gene_variant,,ENST00000555751,,,MODIFIER,,,,1;AL161668.5,downstream_gene_variant,,ENST00000533984,,,MODIFIER,YES,,,1;AL161668.5,downstream_gene_variant,,ENST00000532213,,,MODIFIER,,,,1;RP11-998D10.1,upstream_gene_variant,,ENST00000531638,,,MODIFIER,YES,,,1;TPPP2,missense_variant,p.V37I,ENST00000495665,,c.108G>A,MODERATE,,tolerated(0.12),benign(0.065),1;TPPP2,non_coding_transcript_exon_variant,,ENST00000534434,,n.321G>A,MODIFIER,,,,1;TPPP2,non_coding_transcript_exon_variant,,ENST00000533755,,n.438G>A,MODIFIER,,,,1;TPPP2,non_coding_transcript_exon_variant,,ENST00000529496,,n.112G>A,MODIFIER,,,,1;TPPP2,non_coding_transcript_exon_variant,,ENST00000525425,,n.325G>A,MODIFIER,,,,1;TPPP2,non_coding_transcript_exon_variant,,ENST00000532060,,n.270G>A,MODIFIER,,,,1;NDRG2,upstream_gene_variant,,ENST00000557669,,,MODIFIER,,,,-1	A	ENST00000321760	Transcript	missense_variant	missense_variant	281/752	133/513	45/170	V/I	Gtc/Atc		1		1	TPPP2	HGNC	HGNC:19293	protein_coding	YES	CCDS9566.1	ENSP00000317595	P59282		UPI0000161004	NM_173846.4	tolerated(0.08)	benign(0.169)	2/4		Pfam_domain:PF05517;Superfamily_domains:SSF47473																	MODERATE	1	SNV	1			1											PASS	AGACAGTCACC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	A	3	1	43	21030714	21030714	G	A	1	0	0	0	0	1	0	0	0	16895	1029	36	3		3	TPPP2	14	21030714	Missense_Mutation	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08		21030714	86013004	14	622											
CWC25	54883	BI	GRCh38	chr17	38814908	38814908	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcttgctggccatgtcaagAagggaattggcacctgatgg	13	8	2	2	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.381T>A	p.=	p.L127L	ENST00000614790	3/10	27	21	6	24			CWC25,synonymous_variant,p.L127L,ENST00000614790,NM_017748.4,c.381T>A,LOW,YES,,,-1;CWC25,non_coding_transcript_exon_variant,,ENST00000619818,,n.449T>A,MODIFIER,,,,-1;CWC25,3_prime_UTR_variant,,ENST00000619299,,c.*291T>A,MODIFIER,,,,-1;CWC25,3_prime_UTR_variant,,ENST00000618122,,c.*291T>A,MODIFIER,,,,-1;CWC25,3_prime_UTR_variant,,ENST00000622665,,c.*291T>A,MODIFIER,,,,-1;CWC25,upstream_gene_variant,,ENST00000619462,,,MODIFIER,,,,-1	T	ENST00000614790	Transcript	synonymous_variant	synonymous_variant	679/3234	381/1278	127/425	L	ctT/ctA		1		-1	CWC25	HGNC	HGNC:25989	protein_coding	YES	CCDS45663.1	ENSP00000478070	Q9NXE8		UPI000007081D	NM_017748.4			3/10		Pfam_domain:PF12542																	LOW	1	SNV	1			1											PASS	TCAAGAAGGGA	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	2	4	43	38814908	38814908	A	T	1	0	0	0	0	0	0	0	1	3879	233	9	5		5	CWC25	17	38814908	Silent	SNP	A	TCGA-VD-A8KE-01A-11D-A39W-08		38814908	44442533	15	623											
COG1	9382	BI	GRCh38	chr17	73197068	73197068	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actattcagaaacttctcaaCcagccacaccatggtgggtg	8	12	2	1	novel		TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.729C>G	p.Asn243Lys	p.N243K	ENST00000299886	3/14	43	28	15	39			COG1,missense_variant,p.N243K,ENST00000438720,,c.727C>G,MODERATE,,deleterious(0.03),possibly_damaging(0.691),1;COG1,missense_variant,p.N243K,ENST00000618996,,c.729C>G,MODERATE,,deleterious(0.03),possibly_damaging(0.493),1;COG1,missense_variant,p.N243K,ENST00000299886,NM_018714.2,c.729C>G,MODERATE,YES,deleterious(0.03),possibly_damaging(0.493),1;RP11-143K11.5,downstream_gene_variant,,ENST00000580671,,,MODIFIER,YES,,,1;COG1,3_prime_UTR_variant,,ENST00000582587,,c.*353C>G,MODIFIER,,,,1	G	ENST00000299886	Transcript	missense_variant	missense_variant	809/3079	729/2943	243/980	N/K	aaC/aaG		1		1	COG1	HGNC	HGNC:6545	protein_coding	YES	CCDS11692.1	ENSP00000299886	Q8WTW3		UPI0000127E34	NM_018714.2	deleterious(0.03)	possibly_damaging(0.493)	3/14																			MODERATE	1	SNV	1			1											PASS	CTCAACCAGCC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	G	3	3	43	73197068	73197068	C	G	1	0	0	0	0	1	0	0	0	3445	506	18	5		5	COG1	17	73197068	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08	34382160	73197068	10060373	16	624											
ACOX1	51	BI	GRCh38	chr17	75946790	75946790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcttgtaagattcGtggacctgtggggaaaggag	16	5	1	1	rs768307965	byFrequency	TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.1941C>T	p.=	p.H647H	ENST00000301608	14/14	44	39	5	33			ACOX1,synonymous_variant,p.H647H,ENST00000293217,NM_001185039.1&NM_004035.6,c.1941C>T,LOW,YES,,,-1;ACOX1,synonymous_variant,p.H647H,ENST00000301608,NM_007292.5,c.1941C>T,LOW,,,,-1;ACOX1,synonymous_variant,p.H119H,ENST00000587927,,c.356C>T,LOW,,,,-1;ACOX1,intron_variant,,ENST00000588968,,c.389+1461C>T,MODIFIER,,,,-1;RP11-552F3.13,downstream_gene_variant,,ENST00000587348,,,MODIFIER,YES,,,1;ACOX1,upstream_gene_variant,,ENST00000591963,,,MODIFIER,,,,-1;ACOX1,3_prime_UTR_variant,,ENST00000572047,,c.*1899C>T,MODIFIER,,,,-1;ACOX1,3_prime_UTR_variant,,ENST00000573078,,c.*1430C>T,MODIFIER,,,,-1	A	ENST00000301608	Transcript	synonymous_variant	synonymous_variant	2002/2215	1941/1983	647/660	H	caC/caT	rs768307965	1		-1	ACOX1	HGNC	HGNC:119	protein_coding		CCDS11735.1	ENSP00000301608	Q15067			NM_007292.5			14/14		Pfam_domain:PF01756;Superfamily_domains:SSF47203;PIRSF_domain:PIRSF000168																	LOW		SNV	1			1	1.647e-05	1.665e-05	0	0	0	0	3.029e-05	0	0		PASS	GATTCGTGGAC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	A	2	1	43	75946790	75946790	G	A	1	0	0	0	0	0	0	0	1	200	1159	40	1		1	ACOX1	17	75946790	Silent	SNP	G	TCGA-VD-A8KE-01A-11D-A39W-08	2749722	75946790	7310651	17	625											
BMP7	655	BI	GRCh38	chr20	57183772	57183772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcttgggcgtcttggagCggttctggctgcgctgtttg	17	8	3	0	rs749169949	byFrequency	TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.908G>A	p.Arg303His	p.R303H	ENST00000395863	4/7	99	91	8	100			BMP7,missense_variant,p.R303H,ENST00000395863,NM_001719.2,c.908G>A,MODERATE,YES,tolerated(0.06),probably_damaging(0.964),-1;BMP7,missense_variant,p.R303H,ENST00000450594,,c.908G>A,MODERATE,,tolerated(0.06),probably_damaging(0.991),-1;BMP7,missense_variant,p.R225H,ENST00000433911,,c.672G>A,MODERATE,,tolerated(0.06),probably_damaging(0.999),-1;BMP7,intron_variant,,ENST00000395864,,c.761-8765G>A,MODIFIER,,,,-1;BMP7,non_coding_transcript_exon_variant,,ENST00000460817,,n.408G>A,MODIFIER,,,,-1;BMP7,non_coding_transcript_exon_variant,,ENST00000463939,,n.255G>A,MODIFIER,,,,-1	T	ENST00000395863	Transcript	missense_variant	missense_variant	1414/4013	908/1296	303/431	R/H	cGc/cAc	rs749169949	1		-1	BMP7	HGNC	HGNC:1074	protein_coding	YES	CCDS13455.1	ENSP00000379204	P18075	A8K571	UPI00000349AD	NM_001719.2	tolerated(0.06)	probably_damaging(0.964)	4/7																			MODERATE	1	SNV	1			1	2.471e-05	2.473e-05	0	0	0	0	0	0	0.0001817		PASS	TGGAGCGGTTC	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab			True	Unknown	T	3	4	43	57183772	57183772	C	T	1	0	0	0	0	1	0	0	0	1620	768	27	2		2	BMP7	20	57183772	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		57183772	7260395	18	626											
EIF1AX	1964	BI	GRCh38	chrX	20138614	20138614	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccctgcgtctgtttttacCtcctttacctgatggtttaa	6	12	1	1			TCGA-VD-A8KE-01A-11D-A39W-08	TCGA-VD-A8KE-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	20fa98de-e044-4efb-bb0d-2f7d764ba1e0	0c4498a0-c4de-49cc-b074-53d7e482d8f8	c.25G>C	p.Gly9Arg	p.G9R	ENST00000379607	2/7	70	9	61	153			EIF1AX,missense_variant,p.G9R,ENST00000379607,NM_001412.3,c.25G>C,MODERATE,YES,tolerated(0.09),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2773G>C,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	G	ENST00000379607	Transcript	missense_variant	missense_variant	229/4427	25/435	9/144	G/R	Ggt/Cgt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	tolerated(0.09)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	TTTACCTCCTT	9260d1c0-4244-486a-b76e-726417c15079	0b1394da-3e8c-45d9-9e24-120ca96251ce	e2e54a51-892b-4bf0-90df-d5692350d56b	c9bfc2a7-0914-4080-a0a3-1c6a4e58e1ab		COSM3372214	True	Unknown	G	3	3	43	20138614	20138614	C	G	1	0	0	0	0	1	0	0	0	4828	681	24	5		5	EIF1AX	23	20138614	Missense_Mutation	SNP	C	TCGA-VD-A8KE-01A-11D-A39W-08		20138614	135902281	19	627											
KIAA2013	90231	BI	GRCh38	chr1	11923314	11923314	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggcgtgcatggtggcgtgCccgctgaagcagtgatcttc	15	11	1	2	novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.1209G>T	p.=	p.G403G	ENST00000376572	2/3	29	26	3	33			KIAA2013,synonymous_variant,p.G403G,ENST00000376572,NM_138346.2,c.1209G>T,LOW,YES,,,-1;KIAA2013,synonymous_variant,p.G403G,ENST00000376576,,c.1209G>T,LOW,,,,-1;KIAA2013,synonymous_variant,p.G403G,ENST00000616327,,c.1209G>T,LOW,,,,-1	A	ENST00000376572	Transcript	synonymous_variant	synonymous_variant	1395/2815	1209/1905	403/634	G	ggG/ggT		1		-1	KIAA2013	HGNC	HGNC:28513	protein_coding	YES	CCDS141.1	ENSP00000365756	Q8IYS2		UPI00000741FB	NM_138346.2			2/3		Pfam_domain:PF10222																	LOW	1	SNV	1			1											PASS	GCGTGCCCGCT	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			True	Unknown	A	2	1	44	11923314	11923314	C	A	1	0	0	0	0	0	0	0	1	8132	726	26	5		5	KIAA2013	1	11923314	Silent	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		11923314	237033108	1	628											
SPRR2A	6700	BI	GRCh38	chr1	153056521	153056525	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-													atgaattctgaagctgttacTtgctcttcggtggatacttt					novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.211_215delAGCAA	p.Ser71ValfsTer13	p.S71Vfs*13	ENST00000392653	2/2	86	49	37	115			SPRR2A,frameshift_variant,p.S71Vfs*13,ENST00000392653,NM_005988.2,c.211_215delAGCAA,HIGH,YES,,,-1	-	ENST00000392653	Transcript	frameshift_variant	frameshift_variant	297-301/709	211-215/219	71-72/72	SK/X	AGCAAg/g		1		-1	SPRR2A	HGNC	HGNC:11261	protein_coding	YES	CCDS1034.1	ENSP00000376423	P35326		UPI0000135D6D	NM_005988.2			2/2		Prints_domain:PR01217																	HIGH	1	deletion	1			1											PASS	TGTTACTTGCTCTTCG	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			False	Unknown	-	7	5	44	153056521	153056521	TTGCT	-	1	0	1	0	1	0	0	0	0	15452	1609	56	0		0	SPRR2A	1	153056521	Frame_Shift_Del	DEL	TTGCT	TCGA-VD-A8KF-01A-11D-A39W-08	141133207	153056521	95899901	2	629											
LRRC15	131578	BI	GRCh38	chr3	194360695	194360695	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccctggaagaggccgatggGcagaacctgcagcttgttgt	15	10	0	2	novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.349C>A	p.Pro117Thr	p.P117T	ENST00000347624	2/2	18	1	17	49			LRRC15,missense_variant,p.P117T,ENST00000347624,NM_130830.4,c.349C>A,MODERATE,,deleterious(0.01),probably_damaging(0.965),-1;LRRC15,missense_variant,p.P123T,ENST00000428839,NM_001135057.2,c.367C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.941),-1	T	ENST00000347624	Transcript	missense_variant	missense_variant	435/5883	349/1746	117/581	P/T	Ccc/Acc		1		-1	LRRC15	HGNC	HGNC:20818	protein_coding		CCDS3306.1	ENSP00000306276	Q8TF66		UPI00005764CF	NM_130830.4	deleterious(0.01)	probably_damaging(0.965)	2/2		Pfam_domain:PF00560;SMART_domains:SM00369;SMART_domains:SM00364;Superfamily_domains:SSF52058																	MODERATE		SNV	1			1											PASS	GATGGGCAGAA	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			True	Unknown	T	3	4	44	194360695	194360695	G	T	1	0	0	0	0	1	0	0	0	8866	1203	42	5		5	LRRC15	3	194360695	Missense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		194360695	3934864	3	630											
ZFC3H1	196441	BI	GRCh38	chr12	71663351	71663351	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacgcgtgccgcgagcgtGagaaattcctcagctgctgc	13	13	1	2	novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.260C>A	p.Ser87Ter	p.S87*	ENST00000378743	1/35	107	60	47	101			ZFC3H1,stop_gained,p.S87*,ENST00000378743,NM_144982.4,c.260C>A,HIGH,YES,,,-1;ZFC3H1,stop_gained,p.S87*,ENST00000548100,,c.260C>A,HIGH,,,,-1;ZFC3H1,stop_gained,p.S87*,ENST00000552037,,c.260C>A,HIGH,,,,-1;THAP2,5_prime_UTR_variant,,ENST00000308086,NM_031435.3,c.-1159G>T,MODIFIER,YES,,,1;THAP2,upstream_gene_variant,,ENST00000547843,,,MODIFIER,,,,1;THAP2,upstream_gene_variant,,ENST00000551488,,,MODIFIER,,,,1;THAP2,upstream_gene_variant,,ENST00000551238,,,MODIFIER,,,,1;ZFC3H1,non_coding_transcript_exon_variant,,ENST00000549407,,n.10C>A,MODIFIER,,,,-1;ZFC3H1,intron_variant,,ENST00000550712,,n.206-2924C>A,MODIFIER,,,,-1;ZFC3H1,stop_gained,p.S87*,ENST00000552994,,c.260C>A,HIGH,,,,-1	T	ENST00000378743	Transcript	stop_gained	stop_gained	619/7285	260/5970	87/1989	S/*	tCa/tAa		1		-1	ZFC3H1	HGNC	HGNC:28328	protein_coding	YES	CCDS41813.1	ENSP00000368017	O60293			NM_144982.4			1/35		PROSITE_profiles:PS50324																	HIGH	1	SNV	1			1											PASS	AGCGTGAGAAA	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			True	Unknown	T	4	4	44	71663351	71663351	G	T	1	0	0	0	0	0	1	0	0	18210	1294	45	5		5	ZFC3H1	12	71663351	Nonsense_Mutation	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		71663351	61611958	4	631											
PCDH9	5101	BI	GRCh38	chr13	67225951	67225951	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcaccagaacggtgacgaaGatcacaacaatgaccaccat	8	13	1	4	novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.2490C>T	p.=	p.I830I	ENST00000377865	2/5	104	52	52	92			PCDH9,synonymous_variant,p.I830I,ENST00000377861,,c.2490C>T,LOW,,,,-1;PCDH9,synonymous_variant,p.I830I,ENST00000544246,NM_020403.4,c.2490C>T,LOW,,,,-1;PCDH9,synonymous_variant,p.I830I,ENST00000377865,NM_203487.2,c.2490C>T,LOW,YES,,,-1;PCDH9,synonymous_variant,p.I830I,ENST00000456367,,c.2490C>T,LOW,,,,-1	A	ENST00000377865	Transcript	synonymous_variant	synonymous_variant	2664/5709	2490/3714	830/1237	I	atC/atT		1		-1	PCDH9	HGNC	HGNC:8661	protein_coding	YES	CCDS9444.1	ENSP00000367096	Q9HC56	X5D7N0	UPI00001FCE90	NM_203487.2			2/5		Low_complexity_(Seg):Seg;Pfam_domain:PF08374;Transmembrane_helices:Tmhmm																	LOW	1	SNV	1			1											PASS	ACGAAGATCAC	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			True	Unknown	A	2	1	44	67225951	67225951	G	A	1	0	0	0	0	0	0	0	1	11605	932	33	3		3	PCDH9	13	67225951	Silent	SNP	G	TCGA-VD-A8KF-01A-11D-A39W-08		67225951	47138377	5	632											
SAMD15	161394	BI	GRCh38	chr14	77391179	77391179	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaaagcagcaggattaCaggattatgctccagaaata	9	7	1	1	novel		TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.1960C>A	p.Gln654Lys	p.Q654K	ENST00000216471	3/3	50	24	26	48			SAMD15,missense_variant,p.Q654K,ENST00000216471,NM_001010860.1,c.1960C>A,MODERATE,YES,deleterious(0.01),benign(0.01),1;SAMD15,missense_variant,p.Q68K,ENST00000533095,,c.202C>A,MODERATE,,tolerated(0.1),benign(0.01),1;NOXRED1,downstream_gene_variant,,ENST00000380835,NM_001113475.2,,MODIFIER,YES,,,-1;NOXRED1,downstream_gene_variant,,ENST00000555901,,,MODIFIER,,,,-1	A	ENST00000216471	Transcript	missense_variant	missense_variant	2246/2564	1960/2025	654/674	Q/K	Cag/Aag		1		1	SAMD15	HGNC	HGNC:18631	protein_coding	YES	CCDS32126.1	ENSP00000216471	Q9P1V8		UPI0000072F0E	NM_001010860.1	deleterious(0.01)	benign(0.01)	3/3																			MODERATE		SNV	2			1											PASS	GATTACAGGAT	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889			True	Unknown	A	3	1	44	77391179	77391179	C	A	1	0	0	0	0	1	0	0	0	14079	479	17	5		5	SAMD15	14	77391179	Missense_Mutation	SNP	C	TCGA-VD-A8KF-01A-11D-A39W-08		77391179	29652539	6	633											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8KF-01A-11D-A39W-08	TCGA-VD-A8KF-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	c3c90a47-1079-4c13-b7f6-fbf3e05322e6	5f953c98-fc2c-4be3-a94c-ce5ce67df7e7	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	42	23	19	68			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	b2ac960c-655f-45b3-849f-4e44f8a0dcdb	d21e40b2-7d13-42a7-b720-529bcfd9c63f	e5a7a699-0176-4377-9d40-9e968dc5e987	78039723-94a9-4903-8bb4-c00852e8e889		COSM52969	True	Unknown	T	3	4	44	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8KF-01A-11D-A39W-08		3118944	55498672	7	634											
PADI2	11240	BI	GRCh38	chr1	17069112	17069112	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gttggtgccacagtggacttCccccagaaatttgtggtagg	13	9	0	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.1930G>T	p.Glu644Ter	p.E644*	ENST00000375486	16/16	64	38	26	95			PADI2,stop_gained,p.E644*,ENST00000375486,NM_007365.2,c.1930G>T,HIGH,YES,,,-1;PADI2,non_coding_transcript_exon_variant,,ENST00000466151,,n.2286G>T,MODIFIER,,,,-1;PADI2,non_coding_transcript_exon_variant,,ENST00000479534,,n.877G>T,MODIFIER,,,,-1	A	ENST00000375486	Transcript	stop_gained	stop_gained	1994/4345	1930/1998	644/665	E/*	Gaa/Taa		1		-1	PADI2	HGNC	HGNC:18341	protein_coding	YES	CCDS177.1	ENSP00000364635	Q9Y2J8	A0A024RA98	UPI00001314AF	NM_007365.2			16/16		Pfam_domain:PF03068;Superfamily_domains:SSF55909;PIRSF_domain:PIRSF001247																	HIGH	1	SNV	1			1											PASS	GACTTCCCCCA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	A	4	1	45	17069112	17069112	C	A	1	0	0	0	0	0	1	0	0	11456	864	30	5		5	PADI2	1	17069112	Nonsense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		17069112	231887310	1	635											
DCDC2B	149069	BI	GRCh38	chr1	32212091	32212091	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcaggaatggggacctGgtaagtcccccatttagtct	12	9	2	0	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.417G>A	p.=	p.L139L	ENST00000409358	4/9	29	24	5	29			DCDC2B,synonymous_variant,p.L139L,ENST00000409358,NM_001099434.1,c.417G>A,LOW,YES,,,1;IQCC,downstream_gene_variant,,ENST00000537469,NM_001160042.1,,MODIFIER,YES,,,1;IQCC,downstream_gene_variant,,ENST00000291358,NM_018134.2,,MODIFIER,,,,1;TMEM234,downstream_gene_variant,,ENST00000373593,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000309777,NM_019118.3,,MODIFIER,YES,,,-1;TMEM234,downstream_gene_variant,,ENST00000344461,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000485689,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000495091,,,MODIFIER,,,,-1;DCDC2B,non_coding_transcript_exon_variant,,ENST00000487056,,n.647G>A,MODIFIER,,,,1;TMEM234,downstream_gene_variant,,ENST00000466796,,,MODIFIER,,,,-1;IQCC,downstream_gene_variant,,ENST00000617816,,,MODIFIER,,,,1;TMEM234,downstream_gene_variant,,ENST00000461402,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000491434,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000489170,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000487174,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000483001,,,MODIFIER,,,,-1;TMEM234,downstream_gene_variant,,ENST00000484490,,,MODIFIER,,,,-1	A	ENST00000409358	Transcript	synonymous_variant	synonymous_variant	417/1349	417/1050	139/349	L	ctG/ctA		1		1	DCDC2B	HGNC	HGNC:32576	protein_coding	YES	CCDS44100.1	ENSP00000386870	A2VCK2			NM_001099434.1			4/9		PROSITE_profiles:PS50309;SMART_domains:SM00537;Superfamily_domains:SSF89837																	LOW	1	SNV	1			1											PASS	GACCTGGTAAG	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	A	2	1	45	32212091	32212091	G	A	1	0	0	0	0	0	0	0	1	4088	1335	47	3		3	DCDC2B	1	32212091	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	15142979	32212091	216744331	2	636											
ADGRL4	64123	BI	GRCh38	chr1	78917995	78917995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccttcaatgcacatccatGcaaaagcagctaaaaagaag	7	10	1	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.1517C>T	p.Ala506Val	p.A506V	ENST00000370742	11/15	103	67	36	97			ADGRL4,missense_variant,p.A506V,ENST00000370742,NM_022159.3,c.1517C>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.997),-1;ADGRL4,upstream_gene_variant,,ENST00000401034,,,MODIFIER,,,,-1	A	ENST00000370742	Transcript	missense_variant	missense_variant	1581/3527	1517/2073	506/690	A/V	gCa/gTa		1		-1	ADGRL4	HGNC	HGNC:20822	protein_coding	YES	CCDS41352.1	ENSP00000359778	Q9HBW9		UPI00004561FF	NM_022159.3	deleterious(0.02)	probably_damaging(0.997)	11/15		Pfam_domain:PF00002;Prints_domain:PR00249;PROSITE_profiles:PS50261																	MODERATE	1	SNV	1			1											PASS	TCCATGCAAAA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	A	3	1	45	78917995	78917995	G	A	1	0	0	0	0	1	0	0	0	378	1319	46	3		3	ADGRL4	1	78917995	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	46705904	78917995	170038427	3	637											
MCEE	84693	BI	GRCh38	chr2	71124373	71124373	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcttcacttacctgggCccccagaatattcttataaa	6	13	2	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.211G>A	p.Ala71Thr	p.A71T	ENST00000244217	2/3	79	48	31	99			MCEE,missense_variant,p.A71T,ENST00000244217,NM_032601.3,c.211G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.995),-1;MCEE,missense_variant,p.A27T,ENST00000413592,,c.79G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.889),-1;MCEE,5_prime_UTR_variant,,ENST00000494660,,c.-75G>A,MODIFIER,,,,-1;MCEE,5_prime_UTR_variant,,ENST00000486135,,c.-75G>A,MODIFIER,,,,-1	T	ENST00000244217	Transcript	missense_variant	missense_variant	229/835	211/531	71/176	A/T	Gcc/Acc		1		-1	MCEE	HGNC	HGNC:16732	protein_coding	YES	CCDS1915.1	ENSP00000244217	Q96PE7		UPI000003CA39	NM_032601.3	deleterious(0.02)	probably_damaging(0.995)	2/3		TIGRFAM_domain:TIGR03081;Pfam_domain:PF00903;Superfamily_domains:SSF54593																	MODERATE	1	SNV	1			1											PASS	CTGGGCCCCCA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	T	3	4	45	71124373	71124373	C	T	1	0	0	0	0	1	0	0	0	9307	739	26	3		3	MCEE	2	71124373	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		71124373	171069156	4	638											
STAG1	10274	BI	GRCh38	chr3	136422519	136422519	+	Nonsense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtatattcttcactgcatAagatactataggttttactg	7	6	2	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.1928T>G	p.Leu643Ter	p.L643*	ENST00000383202	19/34	176	159	17	146			STAG1,stop_gained,p.L643*,ENST00000383202,NM_005862.2,c.1928T>G,HIGH,YES,,,-1;STAG1,stop_gained,p.L643*,ENST00000236698,,c.1928T>G,HIGH,,,,-1;STAG1,stop_gained,p.L417*,ENST00000434713,,c.1250T>G,HIGH,,,,-1;STAG1,3_prime_UTR_variant,,ENST00000629124,,c.*1567T>G,MODIFIER,,,,-1;STAG1,downstream_gene_variant,,ENST00000492318,,,MODIFIER,,,,-1;STAG1,3_prime_UTR_variant,,ENST00000483235,,c.*2020T>G,MODIFIER,,,,-1;STAG1,3_prime_UTR_variant,,ENST00000487065,,c.*1567T>G,MODIFIER,,,,-1	C	ENST00000383202	Transcript	stop_gained	stop_gained	2185/6055	1928/3777	643/1258	L/*	tTa/tGa		1		-1	STAG1	HGNC	HGNC:11354	protein_coding	YES	CCDS3090.1	ENSP00000372689	Q8WVM7			NM_005862.2			19/34		Superfamily_domains:SSF48371																	HIGH	1	SNV	1			1											PASS	TGCATAAGATA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	C	4	2	45	136422519	136422519	A	C	1	0	0	0	0	0	1	0	0	15620	372	13	5		5	STAG1	3	136422519	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		136422519	61873040	5	639											
UGT2B17	7367	BI	GRCh38	chr4	68560566	68560566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgggcaagggctgatgCaatcatgttggcactttctt	12	8	3	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.976G>A	p.Ala326Thr	p.A326T	ENST00000317746	3/6	45	36	9	438			UGT2B17,missense_variant,p.A326T,ENST00000317746,NM_001077.3,c.976G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.89),-1;UGT2B15,intron_variant,,ENST00000616841,,c.*140-23040G>A,MODIFIER,,,,-1	T	ENST00000317746	Transcript	missense_variant	missense_variant	1019/2077	976/1593	326/530	A/T	Gca/Aca		1		-1	UGT2B17	HGNC	HGNC:12547	protein_coding	YES	CCDS3523.1	ENSP00000320401	O75795			NM_001077.3	deleterious(0)	possibly_damaging(0.89)	3/6		Pfam_domain:PF00201;Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1											PASS	TGATGCAATCA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	T	3	4	45	68560566	68560566	C	T	1	0	0	0	0	1	0	0	0	17483	710	25	3		3	UGT2B17	4	68560566	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		68560566	121653989	6	640											
UGT2B15	7366	BI	GRCh38	chr4	68663037	68663037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatctgggcaagggctgatgCaatcatgttggcactttctt	12	8	3	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.976G>A	p.Ala326Thr	p.A326T	ENST00000338206	3/6	41	35	6	448			UGT2B15,missense_variant,p.A326T,ENST00000338206,NM_001076.3,c.976G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;UGT2B15,missense_variant,p.A326T,ENST00000616841,,c.976G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1	T	ENST00000338206	Transcript	missense_variant	missense_variant	986/2077	976/1593	326/530	A/T	Gca/Aca		1		-1	UGT2B15	HGNC	HGNC:12546	protein_coding	YES	CCDS3524.1	ENSP00000341045	P54855		UPI000045721A	NM_001076.3	deleterious(0)	probably_damaging(0.997)	3/6		Pfam_domain:PF00201;Superfamily_domains:SSF53756																	MODERATE	1	SNV	1			1											PASS	TGATGCAATCA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			False	Unknown	T	3	4	45	68663037	68663037	C	T	1	0	0	0	0	1	0	0	0	17482	710	25	3		3	UGT2B15	4	68663037	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08	102471	68663037	121551518	7	641											
PCDHA2	56146	BI	GRCh38	chr5	140795327	140795327	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggttttccatgtggaagtGgaggtgaaggacattaacga	14	5	0	1			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.363G>T	p.=	p.V121V	ENST00000526136	1/4	126	115	11	173			PCDHA2,synonymous_variant,p.V121V,ENST00000526136,NM_018905.2,c.363G>T,LOW,YES,,,1;PCDHA2,synonymous_variant,p.V121V,ENST00000520672,NM_031496.1,c.363G>T,LOW,,,,1;PCDHA2,synonymous_variant,p.V121V,ENST00000378132,NM_031495.1,c.363G>T,LOW,,,,1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3,c.2394+6643G>T,MODIFIER,YES,,,1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2,c.1602+7435G>T,MODIFIER,,,,1;AC005609.16,intron_variant,,ENST00000624712,,n.656-6473C>A,MODIFIER,YES,,,-1;AC005609.16,intron_variant,,ENST00000624176,,n.470+5664C>A,MODIFIER,,,,-1	T	ENST00000526136	Transcript	synonymous_variant	synonymous_variant	363/5254	363/2847	121/948	V	gtG/gtT		1		1	PCDHA2	HGNC	HGNC:8668	protein_coding	YES	CCDS54914.1	ENSP00000431748	Q9Y5H9			NM_018905.2			1/4		PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	LOW	1	SNV	1			1											PASS	GAAGTGGAGGT	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d		COSM360089;COSM360090	True	Unknown	T	2	4	45	140795327	140795327	G	T	1	0	0	0	0	0	0	0	1	11611	1335	47	5		5	PCDHA2	5	140795327	Silent	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		140795327	40742932	8	642											
OR2B2	81697	BI	GRCh38	chr6	27912199	27912199	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaattattgtcagattgcCaaagattgtcaagatatagg	9	4	2	4	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.121G>T	p.Gly41Cys	p.G41C	ENST00000303324	1/1	108	78	30	55			OR2B2,missense_variant,p.G41C,ENST00000303324,NM_033057.2,c.121G>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1	A	ENST00000303324	Transcript	missense_variant	missense_variant	198/1212	121/1074	41/357	G/C	Ggc/Tgc		1		-1	OR2B2	HGNC	HGNC:13966	protein_coding	YES	CCDS4641.1	ENSP00000304419	Q9GZK3		UPI000004187A	NM_033057.2	deleterious(0)	probably_damaging(0.998)	1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	ATTGCCAAAGA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	A	3	1	45	27912199	27912199	C	A	1	0	0	0	0	1	0	0	0	11068	594	21	5		5	OR2B2	6	27912199	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		27912199	142893780	9	643											
ITGB8	3696	BI	GRCh38	chr7	20381804	20381804	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgtctcatctcgctcttgaTagcaaattggcaggcatagt	9	10	3	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.879T>C	p.=	p.D293D	ENST00000222573	6/14	79	66	13	80			ITGB8,synonymous_variant,p.D293D,ENST00000222573,NM_002214.2,c.879T>C,LOW,YES,,,1;ITGB8,synonymous_variant,p.D158D,ENST00000537992,,c.474T>C,LOW,,,,1;SNORD56,downstream_gene_variant,,ENST00000363883,,,MODIFIER,YES,,,1;ITGB8,non_coding_transcript_exon_variant,,ENST00000477859,,n.5296T>C,MODIFIER,,,,1;ITGB8,non_coding_transcript_exon_variant,,ENST00000478974,,n.1584T>C,MODIFIER,,,,1	C	ENST00000222573	Transcript	synonymous_variant	synonymous_variant	1563/8751	879/2310	293/769	D	gaT/gaC		1		1	ITGB8	HGNC	HGNC:6163	protein_coding	YES	CCDS5370.1	ENSP00000222573	P26012		UPI000012DA14	NM_002214.2			6/14		Pfam_domain:PF00362;Prints_domain:PR01186;SMART_domains:SM00187;Superfamily_domains:SSF53300;PIRSF_domain:PIRSF002512																	LOW	1	SNV	1			1											PASS	CTTGATAGCAA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	C	2	2	45	20381804	20381804	T	C	1	0	0	0	0	0	0	0	1	7807	1403	49	4		4	ITGB8	7	20381804	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		20381804	138964169	10	644											
CA2	760	BI	GRCh38	chr8	85477119	85477119	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtatttgccttgttctaGggcaagagtgctgacttcac	11	9	2	2	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.508-1G>A		p.X170_splice	ENST00000285379		150	59	91	127			CA2,splice_acceptor_variant,p.X170_splice,ENST00000285379,NM_000067.2,c.508-1G>A,HIGH,YES,,,1;CA2,splice_acceptor_variant,,ENST00000520127,,c.*95-1G>A,HIGH,,,,1;CA2,splice_acceptor_variant,,ENST00000522742,,c.*282-1G>A,HIGH,,,,1;CA2,downstream_gene_variant,,ENST00000520996,,,MODIFIER,,,,1;CA2,downstream_gene_variant,,ENST00000518231,,,MODIFIER,,,,1	A	ENST00000285379	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/1717	508/783	170/260				1		1	CA2	HGNC	HGNC:1373	protein_coding	YES	CCDS6239.1	ENSP00000285379	P00918	V9HW21	UPI0000110BA2	NM_000067.2				5/6																		HIGH	1	SNV	1			1											PASS	TTCTAGGGCAA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d	NonExonic		True	Unknown	A	5	1	45	85477119	85477119	G	A	1	0	0	0	0	0	0	1	0	2202	1014	35	3		3	CA2	8	85477119	Splice_Site	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		85477119	59661517	11	645											
MUSK	4593	BI	GRCh38	chr9	110687150	110687150	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtacagcatccgggagaaTgggcagctcctcaccatcct	11	14	1	1	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.240T>C	p.=	p.N80N	ENST00000374448	3/15	93	83	10	96			MUSK,synonymous_variant,p.N80N,ENST00000416899,,c.240T>C,LOW,,,,1;MUSK,synonymous_variant,p.N80N,ENST00000374448,NM_005592.3,c.240T>C,LOW,YES,,,1;MUSK,synonymous_variant,p.N80N,ENST00000189978,NM_001166280.1&NM_001166281.1,c.240T>C,LOW,,,,1;MUSK,synonymous_variant,p.N80N,ENST00000374440,,c.240T>C,LOW,,,,1;MUSK,upstream_gene_variant,,ENST00000374439,,,MODIFIER,,,,1	C	ENST00000374448	Transcript	synonymous_variant	synonymous_variant	374/2754	240/2610	80/869	N	aaT/aaC		1		1	MUSK	HGNC	HGNC:7525	protein_coding	YES	CCDS48005.1	ENSP00000363571	O15146		UPI000006D2F7	NM_005592.3			3/15		Pfam_domain:PF07679;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	LOW	1	SNV	5			1											PASS	GAGAATGGGCA	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	C	2	2	45	110687150	110687150	T	C	1	0	0	0	0	0	0	0	1	9987	1461	51	4		4	MUSK	9	110687150	Silent	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08		110687150	27707567	12	646											
ADAMTSL2	9719	BI	GRCh38	chr9	133540602	133540602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctccctccaccagatgaCtatgtccacatctccagcaa	5	16	2	2	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.417C>T	p.=	p.D139D	ENST00000354484	6/19	24	21	3	28			ADAMTSL2,synonymous_variant,p.D248D,ENST00000393061,,c.744C>T,LOW,,,,1;ADAMTSL2,synonymous_variant,p.D139D,ENST00000354484,NM_001145320.1,c.417C>T,LOW,YES,,,1;ADAMTSL2,synonymous_variant,p.D139D,ENST00000393060,NM_014694.3,c.417C>T,LOW,,,,1	T	ENST00000354484	Transcript	synonymous_variant	synonymous_variant	974/4068	417/2856	139/951	D	gaC/gaT		1		1	ADAMTSL2	HGNC	HGNC:14631	protein_coding	YES	CCDS6976.1	ENSP00000346478	Q86TH1		UPI000018CEA2	NM_001145320.1			6/19																			LOW	1	SNV	1			1											PASS	GATGACTATGT	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			False	Unknown	T	2	4	45	133540602	133540602	C	T	1	0	0	0	0	0	0	0	1	319	579	20	3		3	ADAMTSL2	9	133540602	Silent	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08	22853452	133540602	4854115	13	647											
CD163	9332	BI	GRCh38	chr12	7496916	7496916	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtccctggcaagaaacGctgtcaagccagatgtgtcc	10	12	2	2	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.996C>G	p.Ser332Arg	p.S332R	ENST00000359156	5/17	41	16	25	52			CD163,missense_variant,p.S332R,ENST00000359156,NM_004244.5,c.996C>G,MODERATE,YES,tolerated(0.46),benign(0.041),-1;CD163,missense_variant,p.S332R,ENST00000396620,,c.996C>G,MODERATE,,tolerated(0.45),benign(0.041),-1;CD163,missense_variant,p.S332R,ENST00000432237,NM_203416.3,c.996C>G,MODERATE,,tolerated(0.45),benign(0.024),-1;CD163,missense_variant,p.S320R,ENST00000541972,,c.960C>G,MODERATE,,tolerated(0.45),benign(0.024),-1;CD163,non_coding_transcript_exon_variant,,ENST00000537044,,n.1082C>G,MODIFIER,,,,-1	C	ENST00000359156	Transcript	missense_variant	missense_variant	1199/4268	996/3471	332/1156	S/R	agC/agG		1		-1	CD163	HGNC	HGNC:1631	protein_coding	YES	CCDS8578.1	ENSP00000352071	Q86VB7		UPI00004565CC	NM_004244.5	tolerated(0.46)	benign(0.041)	5/17		Pfam_domain:PF00530;PROSITE_profiles:PS50287;SMART_domains:SM00202;Superfamily_domains:SSF56487																	MODERATE	1	SNV	1			1											PASS	GAAACGCTGTC	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	C	3	2	45	7496916	7496916	G	C	1	0	0	0	0	1	0	0	0	2670	1078	38	5		5	CD163	12	7496916	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		7496916	125778393	14	648											
DVL2	1856	BI	GRCh38	chr17	7230328	7230328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccaatgccgctggtcctctCgggtggcaaaggaggtaaag	14	11	1	0	rs761312377		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.367G>A	p.Glu123Lys	p.E123K	ENST00000005340	3/15	54	29	25	86			DVL2,missense_variant,p.E123K,ENST00000005340,NM_004422.2,c.367G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.995),-1;DVL2,missense_variant,p.E123K,ENST00000575458,,c.367G>A,MODERATE,,deleterious(0.05),probably_damaging(0.915),-1;DVL2,missense_variant,p.E123K,ENST00000575756,,c.367G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.81),-1;DVL2,missense_variant,p.E61K,ENST00000574143,,c.181G>A,MODERATE,,deleterious(0.04),probably_damaging(0.984),-1;PHF23,downstream_gene_variant,,ENST00000320316,NM_024297.2,,MODIFIER,YES,,,-1;PHF23,downstream_gene_variant,,ENST00000576955,,,MODIFIER,,,,-1;PHF23,downstream_gene_variant,,ENST00000571362,NM_001284517.1,,MODIFIER,,,,-1;PHF23,downstream_gene_variant,,ENST00000454255,NM_001284518.1,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000575086,,,MODIFIER,,,,-1;DVL2,non_coding_transcript_exon_variant,,ENST00000574642,,n.64G>A,MODIFIER,,,,-1;DVL2,non_coding_transcript_exon_variant,,ENST00000572285,,n.328G>A,MODIFIER,,,,-1;DVL2,non_coding_transcript_exon_variant,,ENST00000576949,,n.919G>A,MODIFIER,,,,-1;DVL2,non_coding_transcript_exon_variant,,ENST00000576439,,n.155G>A,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000576840,,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000576285,,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000574591,,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000571745,,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000577154,,,MODIFIER,,,,-1;DVL2,upstream_gene_variant,,ENST00000573354,,,MODIFIER,,,,-1	T	ENST00000005340	Transcript	missense_variant	missense_variant	650/3018	367/2211	123/736	E/K	Gag/Aag	rs761312377	1		-1	DVL2	HGNC	HGNC:3086	protein_coding	YES	CCDS11091.1	ENSP00000005340	O14641		UPI0000000DE9	NM_004422.2	deleterious(0.05)	probably_damaging(0.995)	3/15		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1	8.236e-06	8.243e-06	0	0	0	0	1.499e-05	0	0		PASS	CCTCTCGGGTG	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	T	3	4	45	7230328	7230328	C	T	1	0	0	0	0	1	0	0	0	4658	893	31	2		2	DVL2	17	7230328	Missense_Mutation	SNP	C	TCGA-VD-A8KG-01A-11D-A39W-08		7230328	76027113	15	649											
SPECC1	92521	BI	GRCh38	chr17	20205142	20205142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagttccccaaacagcGtaagtgaattgtccctggct	11	11	0	1	rs367591049	byCluster;byFrequency	TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.1093G>A	p.Val365Ile	p.V365I	ENST00000261503	4/15	97	88	9	94			SPECC1,missense_variant,p.V284I,ENST00000395530,NM_001033555.2,c.850G>A,MODERATE,,tolerated(0.83),benign(0.003),1;SPECC1,missense_variant,p.V365I,ENST00000395529,NM_152904.4,c.1093G>A,MODERATE,,tolerated(0.95),benign(0.006),1;SPECC1,missense_variant,p.V365I,ENST00000261503,NM_001033553.2,c.1093G>A,MODERATE,YES,tolerated(0.87),benign(0.001),1;SPECC1,missense_variant,p.V365I,ENST00000395527,NM_001243439.1,c.1093G>A,MODERATE,,tolerated(0.87),benign(0.001),1;SPECC1,missense_variant,p.V284I,ENST00000395522,NM_001243438.1,c.850G>A,MODERATE,,tolerated(0.95),benign(0.008),1;SPECC1,missense_variant,p.V284I,ENST00000395525,NM_001033554.2,c.850G>A,MODERATE,,tolerated(0.95),benign(0.008),1;SPECC1,upstream_gene_variant,,ENST00000581399,,,MODIFIER,,,,1;SPECC1,upstream_gene_variant,,ENST00000584527,,,MODIFIER,,,,1;SPECC1,upstream_gene_variant,,ENST00000582226,,,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000581973,,,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000583463,,,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000583482,,,MODIFIER,,,,1;AC004702.2,intron_variant,,ENST00000580225,,n.105+19956G>A,MODIFIER,YES,,,1;SPECC1,intron_variant,,ENST00000472876,,n.82-22271G>A,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000582063,,,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000413167,,,MODIFIER,,,,1;SPECC1,downstream_gene_variant,,ENST00000579688,,,MODIFIER,,,,1;SPECC1,intron_variant,,ENST00000467722,,c.41-22271G>A,MODIFIER,,,,1	A	ENST00000261503	Transcript	missense_variant	missense_variant	1144/3948	1093/3207	365/1068	V/I	Gta/Ata	rs367591049	1		1	SPECC1	HGNC	HGNC:30615	protein_coding	YES	CCDS32590.1	ENSP00000261503	Q5M775	A0A024QYY9	UPI000020187D	NM_001033553.2	tolerated(0.87)	benign(0.001)	4/15		Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50324								0	1e-04								MODERATE	1	SNV	1			1	4.942e-05	4.954e-05	0	0.0005192	0	0	0	0	0		PASS	ACAGCGTAAGT	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d	common_in_exac		True	Unknown	A	3	1	45	20205142	20205142	G	A	1	0	0	0	0	1	0	0	0	15383	1145	40	1		1	SPECC1	17	20205142	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08	12974814	20205142	63052299	16	650											
ST8SIA3	51046	BI	GRCh38	chr18	57357044	57357044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctattagcaataacttccGgtcacttcttccagatgtgt	6	11	3	1	rs201032971	byCluster	TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.434G>A	p.Arg145Gln	p.R145Q	ENST00000324000	3/4	85	55	30	98			ST8SIA3,missense_variant,p.R145Q,ENST00000324000,NM_015879.2,c.434G>A,MODERATE,YES,,benign(0.127),1;ST8SIA3,upstream_gene_variant,,ENST00000586360,,,MODIFIER,,,,1	A	ENST00000324000	Transcript	missense_variant	missense_variant	2468/11833	434/1143	145/380	R/Q	cGg/cAg	rs201032971	1		1	ST8SIA3	HGNC	HGNC:14269	protein_coding	YES	CCDS32834.1	ENSP00000320431	O43173		UPI000014126D	NM_015879.2		benign(0.127)	3/4		Pfam_domain:PF00777;PIRSF_domain:PIRSF005557								0	5e-04								MODERATE	1	SNV	1			1	0.0002553	0.0002558	0	8.649e-05	0	0	0.0004054	0	0.000182		panel_of_normals	CTTCCGGTCAC	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d	common_in_exac;gdc_pon		True	Unknown	A	3	1	45	57357044	57357044	G	A	1	0	0	0	0	1	0	0	0	15611	1116	39	2		2	ST8SIA3	18	57357044	Missense_Mutation	SNP	G	TCGA-VD-A8KG-01A-11D-A39W-08		57357044	23016241	17	651											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	35	19	16	80			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d		COSM52969	True	Unknown	T	3	4	45	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		3118944	55498672	18	652											
DSCAM	1826	BI	GRCh38	chr21	40692940	40692940	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctccacacggactgtAtagggctcccgtaaaactgg	11	12	0	0	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.378T>A	p.Tyr126Ter	p.Y126*	ENST00000400454	3/33	150	128	22	60			DSCAM,stop_gained,p.Y126*,ENST00000400454,NM_001389.3&NM_001271534.1,c.378T>A,HIGH,YES,,,-1	T	ENST00000400454	Transcript	stop_gained	stop_gained	856/8552	378/6039	126/2012	Y/*	taT/taA		1		-1	DSCAM	HGNC	HGNC:3039	protein_coding	YES	CCDS42929.1	ENSP00000383303	O60469		UPI00000422DF	NM_001389.3;NM_001271534.1			3/33		PROSITE_profiles:PS50835;Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1											PASS	ACTGTATAGGG	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	T	4	4	45	40692940	40692940	A	T	1	0	0	0	0	0	1	0	0	4589	456	16	5		5	DSCAM	21	40692940	Nonsense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		40692940	6017043	19	653											
SMC1A	8243	BI	GRCh38	chrX	53383144	53383144	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacactttccagcttttccAtggccttcatgttgggggcg	12	11	1	0	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.3083T>C	p.Met1028Thr	p.M1028T	ENST00000322213	20/25	37	21	16	35			SMC1A,missense_variant,p.M1006T,ENST00000375340,NM_001281463.1,c.3017T>C,MODERATE,,tolerated(0.17),benign(0.034),-1;SMC1A,missense_variant,p.M1028T,ENST00000322213,NM_006306.3,c.3083T>C,MODERATE,YES,tolerated(0.14),benign(0.058),-1;SMC1A,missense_variant,p.M125T,ENST00000470241,,c.373T>C,MODERATE,,tolerated(0.17),benign(0.025),-1;SMC1A,upstream_gene_variant,,ENST00000469129,,,MODIFIER,,,,-1	G	ENST00000322213	Transcript	missense_variant	missense_variant	3211/9784	3083/3702	1028/1233	M/T	aTg/aCg		1		-1	SMC1A	HGNC	HGNC:11111	protein_coding	YES	CCDS14352.1	ENSP00000323421	Q14683		UPI0000135A4D	NM_006306.3	tolerated(0.14)	benign(0.058)	20/25		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF02463;Superfamily_domains:SSF52540;Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1											PASS	TTTCCATGGCC	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	G	3	3	45	53383144	53383144	A	G	1	0	0	0	0	1	0	0	0	15074	217	8	4		4	SMC1A	23	53383144	Missense_Mutation	SNP	A	TCGA-VD-A8KG-01A-11D-A39W-08		53383144	102657751	20	654											
FRMD7	90167	BI	GRCh38	chrX	132078640	132078640	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttgtgaggccagaataTatgctcatgtgattaccaga	10	7	1	4	novel		TCGA-VD-A8KG-01A-11D-A39W-08	TCGA-VD-A8KG-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7094897f-1217-43aa-b8f8-d67eb7b00b47	ac53a009-1757-407f-a80b-80fda82fce35	c.1377A>G	p.Ile459Met	p.I459M	ENST00000298542	12/12	174	113	61	187			FRMD7,missense_variant,p.I459M,ENST00000298542,NM_194277.2,c.1377A>G,MODERATE,YES,tolerated(0.16),benign(0.109),-1;FRMD7,missense_variant,p.I339M,ENST00000370879,,c.1017A>G,MODERATE,,tolerated(0.18),benign(0.109),-1;FRMD7,missense_variant,p.I444M,ENST00000464296,,c.1332A>G,MODERATE,,tolerated(0.16),benign(0.009),-1;STK26,downstream_gene_variant,,ENST00000394334,NM_016542.3,,MODIFIER,YES,,,1;STK26,downstream_gene_variant,,ENST00000354719,,,MODIFIER,,,,1;STK26,downstream_gene_variant,,ENST00000394335,NM_001042453.1,,MODIFIER,,,,1;STK26,downstream_gene_variant,,ENST00000481105,,,MODIFIER,,,,1;STK26,downstream_gene_variant,,ENST00000496850,NM_001042452.1,,MODIFIER,,,,1	C	ENST00000298542	Transcript	missense_variant	missense_variant	1553/3198	1377/2145	459/714	I/M	atA/atG		1		-1	FRMD7	HGNC	HGNC:8079	protein_coding	YES	CCDS35397.1	ENSP00000298542	Q6ZUT3		UPI00001C0AED	NM_194277.2	tolerated(0.16)	benign(0.109)	12/12																			MODERATE	1	SNV	1			1											PASS	GAATATATGCT	73a16339-4df5-4ee5-b28f-ac81452ec58b	c322afe8-f04e-4e59-883b-9fa003ff8372	e0d9f154-7152-4f3e-9aa9-e9732d760c60	9f57834a-4dc4-45ed-97de-ed4da9d0598d			True	Unknown	C	3	2	45	132078640	132078640	T	C	1	0	0	0	0	1	0	0	0	5925	1396	49	4		4	FRMD7	23	132078640	Missense_Mutation	SNP	T	TCGA-VD-A8KG-01A-11D-A39W-08	78695496	132078640	23962255	21	655											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	60	35	25	43			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1		COSM255276	True	Unknown	T	3	4	46	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		197402759	44790770	1	656											
SLC12A9	56996	BI	GRCh38	chr7	100862719	100862720	+	Frame_Shift_Ins	INS	-	-	T													tgtacagccgcagtatggggINScatggctcagcctggtggac					novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.1750_1751insT	p.Ala584ValfsTer51	p.A584Vfs*51	ENST00000354161	13/14	58	41	17	66			SLC12A9,frameshift_variant,p.A584Vfs*51,ENST00000354161,NM_020246.3,c.1750_1751insT,HIGH,YES,,,1;SLC12A9,frameshift_variant,p.A584Vfs*109,ENST00000540482,NM_001267812.1,c.1750_1751insT,HIGH,,,,1;SLC12A9,frameshift_variant,p.A495Vfs*51,ENST00000415287,NM_001267814.1,c.1483_1484insT,HIGH,,,,1;TRIP6,upstream_gene_variant,,ENST00000200457,NM_003302.2,,MODIFIER,YES,,,1;TRIP6,upstream_gene_variant,,ENST00000619988,,,MODIFIER,,,,1;TRIP6,upstream_gene_variant,,ENST00000629911,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000418037,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000416675,,,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000482184,,n.279_280insT,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000475623,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000461016,,,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000487651,,n.3063_3064insT,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000467972,,n.3034_3035insT,MODIFIER,,,,1;SLC12A9,non_coding_transcript_exon_variant,,ENST00000475687,,n.2729_2730insT,MODIFIER,,,,1;TRIP6,upstream_gene_variant,,ENST00000476870,,,MODIFIER,,,,1;TRIP6,upstream_gene_variant,,ENST00000417475,,,MODIFIER,,,,1;TRIP6,upstream_gene_variant,,ENST00000437505,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000497958,,,MODIFIER,,,,1;SLC12A9,downstream_gene_variant,,ENST00000448342,,,MODIFIER,,,,1;TRIP6,upstream_gene_variant,,ENST00000496260,,,MODIFIER,,,,1	T	ENST00000354161	Transcript	frameshift_variant	frameshift_variant	1875-1876/3273	1750-1751/2745	584/914	A/VX	gca/gTca		1		1	SLC12A9	HGNC	HGNC:17435	protein_coding	YES	CCDS5707.1	ENSP00000275730	Q9BXP2		UPI000006CD28	NM_020246.3			13/14																			HIGH	1	insertion	1			1											PASS	ATGGGGCATGG	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	T	7	5	46	100862719	100862719	-	T	1	0	1	1	0	0	0	0	0	14655	1203	42	0		0	SLC12A9	7	100862719	Frame_Shift_Ins	INS	-	TCGA-VD-A8KH-01A-11D-A39W-08		100862719	58483254	2	657											
PPP1R3B	79660	BI	GRCh38	chr8	9141079	9141079	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgatgtcgaaggagaaCgtgtccctgtctgaaccggc	13	10	1	3	rs758018996	byFrequency	TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.573G>A	p.=	p.T191T	ENST00000310455	2/2	85	48	37	60			PPP1R3B,synonymous_variant,p.T191T,ENST00000310455,NM_024607.3,c.573G>A,LOW,YES,,,-1;PPP1R3B,synonymous_variant,p.T191T,ENST00000519699,NM_001201329.1,c.573G>A,LOW,,,,-1;RP11-10A14.3,upstream_gene_variant,,ENST00000520017,,,MODIFIER,YES,,,1;RP11-10A14.3,upstream_gene_variant,,ENST00000522057,,,MODIFIER,,,,1	T	ENST00000310455	Transcript	synonymous_variant	synonymous_variant	724/5548	573/858	191/285	T	acG/acA	rs758018996	1		-1	PPP1R3B	HGNC	HGNC:14942	protein_coding	YES	CCDS5973.1	ENSP00000308318	Q86XI6		UPI000000DA40	NM_024607.3			2/2		Pfam_domain:PF03370;PROSITE_profiles:PS51159;PIRSF_domain:PIRSF038207																	LOW	1	SNV	1			1	2.471e-05	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05		PASS	GAGAACGTGTC	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	T	2	4	46	9141079	9141079	C	T	1	0	0	0	0	0	0	0	1	12493	523	19	1		1	PPP1R3B	8	9141079	Silent	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		9141079	135997557	3	658											
NCOA2	10499	BI	GRCh38	chr8	70138212	70138212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggactcacctgttttggCtggcaaaagacgcctggtct	11	11	3	1	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.3149G>A	p.Ser1050Asn	p.S1050N	ENST00000452400	15/23	42	19	23	26			NCOA2,missense_variant,p.S1050N,ENST00000452400,NM_006540.2,c.3149G>A,MODERATE,YES,tolerated(1),benign(0.001),-1;NCOA2,missense_variant,p.S176N,ENST00000518363,,c.525G>A,MODERATE,,tolerated(1),benign(0.001),-1;NCOA2,3_prime_UTR_variant,,ENST00000518287,,c.*106G>A,MODIFIER,,,,-1;NCOA2,non_coding_transcript_exon_variant,,ENST00000522054,,n.180G>A,MODIFIER,,,,-1	T	ENST00000452400	Transcript	missense_variant	missense_variant	3331/8447	3149/4395	1050/1464	S/N	aGc/aAc		1		-1	NCOA2	HGNC	HGNC:7669	protein_coding	YES	CCDS47872.1	ENSP00000399968	Q15596		UPI000012FE42	NM_006540.2	tolerated(1)	benign(0.001)	15/23		PIRSF_domain:PIRSF038181																	MODERATE	1	SNV	1			1											PASS	TTTGGCTGGCA	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	T	3	4	46	70138212	70138212	C	T	1	0	0	0	0	1	0	0	0	10248	797	28	3		3	NCOA2	8	70138212	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08	60997133	70138212	75000424	4	659											
MMP20	9313	BI	GRCh38	chr11	102616841	102616841	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaagtattttttttccatttGggttcaccagggaagaggcg	11	6	1	1	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.345C>G	p.=	p.P115P	ENST00000260228	2/10	45	26	19	35			MMP20,synonymous_variant,p.P115P,ENST00000260228,NM_004771.3,c.345C>G,LOW,YES,,,-1;RP11-817J15.2,intron_variant,,ENST00000542119,,n.86+9389G>C,MODIFIER,YES,,,1	C	ENST00000260228	Transcript	synonymous_variant	synonymous_variant	358/1956	345/1452	115/483	P	ccC/ccG		1		-1	MMP20	HGNC	HGNC:7167	protein_coding	YES	CCDS8318.1	ENSP00000260228	O60882		UPI000013D0B3	NM_004771.3			2/10		SMART_domains:SM00235;Superfamily_domains:SSF55486;PIRSF_domain:PIRSF001191																	LOW	1	SNV	1			1											PASS	CATTTGGGTTC	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	C	2	2	46	102616841	102616841	G	C	1	0	0	0	0	0	0	0	1	9622	1335	47	5		5	MMP20	11	102616841	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		102616841	32469781	5	660											
ZDHHC17	23390	BI	GRCh38	chr12	76815964	76815964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctagcagggaataccaCagtcattagccttcttctgg	10	10	3	0	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.716C>T	p.Thr239Ile	p.T239I	ENST00000426126	7/17	20	16	4	16			ZDHHC17,missense_variant,p.T239I,ENST00000426126,NM_015336.2,c.716C>T,MODERATE,YES,tolerated(0.14),benign(0.362),1;ZDHHC17,missense_variant,p.T76I,ENST00000550876,,c.227C>T,MODERATE,,tolerated(0.09),benign(0.003),1;ZDHHC17,3_prime_UTR_variant,,ENST00000546778,,c.*504C>T,MODIFIER,,,,1;ZDHHC17,3_prime_UTR_variant,,ENST00000552453,,c.*63C>T,MODIFIER,,,,1;ZDHHC17,3_prime_UTR_variant,,ENST00000549944,,c.*208C>T,MODIFIER,,,,1;ZDHHC17,3_prime_UTR_variant,,ENST00000550163,,c.*406C>T,MODIFIER,,,,1	T	ENST00000426126	Transcript	missense_variant	missense_variant	1365/5259	716/1899	239/632	T/I	aCa/aTa		1		1	ZDHHC17	HGNC	HGNC:18412	protein_coding	YES	CCDS44946.1	ENSP00000403397	Q8IUH5		UPI0000051F55	NM_015336.2	tolerated(0.14)	benign(0.362)	7/17		Pfam_domain:PF00023;SMART_domains:SM00248;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1											PASS	TACCACAGTCA	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			False	Unknown	T	3	4	46	76815964	76815964	C	T	1	0	0	0	0	1	0	0	0	18183	478	17	3		3	ZDHHC17	12	76815964	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		76815964	56459345	6	661											
URAD	646625	BI	GRCh38	chr13	27988620	27988620	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccaaggtccatggagttGaccttctcaatgtccattcc	7	13	2	1	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.18C>T	p.=	p.V6V	ENST00000332715	1/2	103	62	41	71			URAD,synonymous_variant,p.V6V,ENST00000332715,NM_001105577.1,c.18C>T,LOW,YES,,,-1;RN7SL272P,downstream_gene_variant,,ENST00000487762,,,MODIFIER,YES,,,-1	A	ENST00000332715	Transcript	synonymous_variant	synonymous_variant	35/931	18/522	6/173	V	gtC/gtT		1		-1	URAD	HGNC	HGNC:17785	protein_coding	YES	CCDS45020.1	ENSP00000333490	A6NGE7		UPI000016154A	NM_001105577.1			1/2		Pfam_domain:PF09349																	LOW	1	SNV	5			1											PASS	GAGTTGACCTT	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	A	2	1	46	27988620	27988620	G	A	1	0	0	0	0	0	0	0	1	17553	1277	45	3		3	URAD	13	27988620	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		27988620	86375708	7	662											
RND2	8153	BI	GRCh38	chr17	43028464	43028464	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaagcaggtgggggctgtGtcctatgttgagtgctcctc	15	10	0	1	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.468G>T	p.=	p.V156V	ENST00000587250	5/5	84	49	35	65			RND2,synonymous_variant,p.V156V,ENST00000587250,NM_005440.4,c.468G>T,LOW,YES,,,1;VAT1,upstream_gene_variant,,ENST00000590924,,,MODIFIER,,,,-1;VAT1,upstream_gene_variant,,ENST00000587062,,,MODIFIER,,,,-1;RND2,downstream_gene_variant,,ENST00000587117,,,MODIFIER,,,,1	T	ENST00000587250	Transcript	synonymous_variant	synonymous_variant	575/4147	468/684	156/227	V	gtG/gtT		1		1	RND2	HGNC	HGNC:18315	protein_coding	YES	CCDS11452.1	ENSP00000466680	P52198		UPI0000133895	NM_005440.4			5/5		Low_complexity_(Seg):Seg;Pfam_domain:PF00071;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	GCTGTGTCCTA	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	T	2	4	46	43028464	43028464	G	T	1	0	0	0	0	0	0	0	1	13598	1364	48	5		5	RND2	17	43028464	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		43028464	40228977	8	663											
SOST	50964	BI	GRCh38	chr17	43758600	43758600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgttctccagctccgGtggaggctcggggtactctc	13	12	2	0	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.142C>T	p.Pro48Ser	p.P48S	ENST00000301691	1/2	93	54	39	62			SOST,missense_variant,p.P48S,ENST00000301691,NM_025237.2,c.142C>T,MODERATE,YES,tolerated(0.62),benign(0.078),-1	A	ENST00000301691	Transcript	missense_variant	missense_variant	189/2300	142/642	48/213	P/S	Ccg/Tcg		1		-1	SOST	HGNC	HGNC:13771	protein_coding	YES	CCDS11468.1	ENSP00000301691	Q9BQB4		UPI0000035BBE	NM_025237.2	tolerated(0.62)	benign(0.078)	1/2		Low_complexity_(Seg):Seg;Pfam_domain:PF05463																	MODERATE	1	SNV	1			1											PASS	CTCCGGTGGAG	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	A	3	1	46	43758600	43758600	G	A	1	0	0	0	0	1	0	0	0	15260	1261	44	3		3	SOST	17	43758600	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	730136	43758600	39498841	9	664											
GPATCH8	23131	BI	GRCh38	chr17	44400028	44400028	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacgtttgtgtttgctggaTtttttgtgcttctttttctt	8	5	2	0	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.2049A>G	p.=	p.K683K	ENST00000591680	8/8	177	101	76	167			GPATCH8,synonymous_variant,p.K683K,ENST00000591680,NM_001002909.2,c.2049A>G,LOW,YES,,,-1;GPATCH8,downstream_gene_variant,,ENST00000585614,,,MODIFIER,,,,-1;GPATCH8,3_prime_UTR_variant,,ENST00000587228,,c.*1935A>G,MODIFIER,,,,-1;GPATCH8,non_coding_transcript_exon_variant,,ENST00000335500,,n.3365A>G,MODIFIER,,,,-1;GPATCH8,downstream_gene_variant,,ENST00000590041,,,MODIFIER,,,,-1	C	ENST00000591680	Transcript	synonymous_variant	synonymous_variant	2080/4692	2049/4509	683/1502	K	aaA/aaG		1		-1	GPATCH8	HGNC	HGNC:29066	protein_coding	YES	CCDS32666.1	ENSP00000467556	Q9UKJ3		UPI0000237985	NM_001002909.2			8/8		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50318																	LOW	1	SNV	2			1											PASS	CTGGATTTTTT	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	C	2	2	46	44400028	44400028	T	C	1	0	0	0	0	0	0	0	1	6495	1490	52	4		4	GPATCH8	17	44400028	Silent	SNP	T	TCGA-VD-A8KH-01A-11D-A39W-08	641428	44400028	38857413	10	665											
NXPH3	11248	BI	GRCh38	chr17	49578691	49578691	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggtgcctcggaagcgGggccacatctcacctaagtc	12	16	1	0	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.150G>A	p.=	p.R50R	ENST00000328741	2/2	82	33	49	57			NXPH3,synonymous_variant,p.R50R,ENST00000328741,NM_007225.2,c.150G>A,LOW,YES,,,1;NXPH3,synonymous_variant,p.R50R,ENST00000513748,,c.150G>A,LOW,,,,1;RP5-1029K10.2,upstream_gene_variant,,ENST00000514506,,,MODIFIER,YES,,,-1;RP5-1029K10.4,upstream_gene_variant,,ENST00000503624,,,MODIFIER,YES,,,-1;NXPH3,non_coding_transcript_exon_variant,,ENST00000570453,,n.58G>A,MODIFIER,,,,1	A	ENST00000328741	Transcript	synonymous_variant	synonymous_variant	512/2179	150/759	50/252	R	cgG/cgA		1		1	NXPH3	HGNC	HGNC:8077	protein_coding	YES	CCDS11550.1	ENSP00000329295	O95157		UPI00000389F1	NM_007225.2			2/2		Pfam_domain:PF06312;PIRSF_domain:PIRSF038019																	LOW	1	SNV	1			1											PASS	AAGCGGGGCCA	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	A	2	1	46	49578691	49578691	G	A	1	0	0	0	0	0	0	0	1	10868	1219	43	3		3	NXPH3	17	49578691	Silent	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08	5178663	49578691	33678750	11	666											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	59	28	31	70			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1		COSM52969	True	Unknown	T	3	4	46	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08		3118944	55498672	12	667											
RBM12	10137	BI	GRCh38	chr20	35653351	35653351	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgggcagtcccacaccggGcagtcccgcattgggcattc	12	15	0	0	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.1972C>A	p.Pro658Thr	p.P658T	ENST00000359646	2/2	62	40	22	65			RBM12,missense_variant,p.P658T,ENST00000374114,NM_001198838.1&NM_006047.5,c.1972C>A,MODERATE,YES,deleterious_low_confidence(0.04),possibly_damaging(0.447),-1;RBM12,missense_variant,p.P658T,ENST00000359646,NM_001198840.1,c.1972C>A,MODERATE,,deleterious_low_confidence(0.04),possibly_damaging(0.447),-1;RBM12,missense_variant,p.P658T,ENST00000374104,NM_152838.3,c.1972C>A,MODERATE,,deleterious_low_confidence(0.04),possibly_damaging(0.447),-1;CPNE1,intron_variant,,ENST00000352393,,c.-1+1851C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000397445,NM_152927.2&NM_152928.2,c.-1+5579C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000397443,NM_152925.2&NM_001198863.1&NM_152926.2,c.-1+11409C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000317677,NM_003915.5,c.15+177C>A,MODIFIER,YES,,,-1;CPNE1,intron_variant,,ENST00000437340,,c.-1+11451C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000397442,,c.-1+11451C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000430570,,c.-1+11409C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000414664,,c.-1+11409C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000412056,,c.-1+11451C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000434795,,c.-1+5579C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000437100,,c.-1+1851C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000420363,,c.-1+5579C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000439806,,c.-1+11528C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000440240,,c.-1+1851C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000416778,,c.-1+11409C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000414711,,c.-1+1851C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000458038,,c.-1+5579C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000435747,,c.-1+11008C>A,MODIFIER,,,,-1;RBM12,downstream_gene_variant,,ENST00000424458,,,MODIFIER,,,,-1;RBM12,downstream_gene_variant,,ENST00000431148,,,MODIFIER,,,,-1;RBM12,downstream_gene_variant,,ENST00000435161,,,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000483359,,n.102+11409C>A,MODIFIER,,,,-1;CPNE1,intron_variant,,ENST00000401607,,c.-1+11451C>A,MODIFIER,,,,-1;RP1-309K20.6,intron_variant,,ENST00000541176,,c.*32+1851C>A,MODIFIER,YES,,,-1;CPNE1,intron_variant,,ENST00000439669,,c.-1+11409C>A,MODIFIER,,,,-1;RP1-309K20.6,intron_variant,,ENST00000454607,,c.*32+1851C>A,MODIFIER,,,,-1;RP1-309K20.6,intron_variant,,ENST00000441563,,c.*210+1851C>A,MODIFIER,,,,-1	T	ENST00000359646	Transcript	missense_variant	missense_variant	2123/5332	1972/2799	658/932	P/T	Ccc/Acc		1		-1	RBM12	HGNC	HGNC:9898	protein_coding		CCDS13261.1	ENSP00000352668	Q9NTZ6			NM_001198840.1	deleterious_low_confidence(0.04)	possibly_damaging(0.447)	2/2		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE		SNV	1			1											PASS	ACCGGGCAGTC	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	T	3	4	46	35653351	35653351	G	T	1	0	0	0	0	1	0	0	0	13279	1203	42	5		5	RBM12	20	35653351	Missense_Mutation	SNP	G	TCGA-VD-A8KH-01A-11D-A39W-08		35653351	28790816	13	668											
MCM5	4174	BI	GRCh38	chr22	35415898	35415898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagggacccttcgtccCggaatttcatcatggagggc	13	10	2	2	rs768089056	byFrequency	TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.1273C>T	p.Arg425Trp	p.R425W	ENST00000216122	10/17	280	167	113	195			MCM5,missense_variant,p.R425W,ENST00000216122,NM_006739.3,c.1273C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;MCM5,missense_variant,p.R382W,ENST00000382011,,c.1144C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;MCM5,non_coding_transcript_exon_variant,,ENST00000465557,,n.412C>T,MODIFIER,,,,1;MCM5,non_coding_transcript_exon_variant,,ENST00000464908,,n.544C>T,MODIFIER,,,,1;MCM5,non_coding_transcript_exon_variant,,ENST00000493569,,n.401C>T,MODIFIER,,,,1;MCM5,non_coding_transcript_exon_variant,,ENST00000493076,,n.856C>T,MODIFIER,,,,1	T	ENST00000216122	Transcript	missense_variant	missense_variant	1427/3534	1273/2205	425/734	R/W	Cgg/Tgg	rs768089056	1		1	MCM5	HGNC	HGNC:6948	protein_coding	YES	CCDS13915.1	ENSP00000216122	P33992	B1AHB0	UPI000000D8F4	NM_006739.3	deleterious(0)	probably_damaging(0.998)	10/17		Pfam_domain:PF00493;PROSITE_profiles:PS50051;SMART_domains:SM00350;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1	7.413e-05	7.414e-05	0	0.0001727	0	0	7.493e-05	0	0.0001211		panel_of_normals	CGTCCCGGAAT	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1	gdc_pon	COSM4103769	True	Unknown	T	3	4	46	35415898	35415898	C	T	1	0	0	0	0	1	0	0	0	9322	643	23	2		2	MCM5	22	35415898	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		35415898	15402570	14	669											
MAPK8IP2	23542	BI	GRCh38	chr22	50601827	50601827	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagaatttgacgacgAagatctgtctgagatcactg	11	8	3	4	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.104A>C	p.Glu35Ala	p.E35A	ENST00000329492	2/12	86	62	24	64			MAPK8IP2,missense_variant,p.E35A,ENST00000329492,NM_012324.3,c.104A>C,MODERATE,YES,deleterious(0),possibly_damaging(0.826),1;CTA-384D8.33,downstream_gene_variant,,ENST00000609758,,,MODIFIER,YES,,,1;CHKB,upstream_gene_variant,,ENST00000463053,,,MODIFIER,,,,-1;MAPK8IP2,upstream_gene_variant,,ENST00000008876,,,MODIFIER,,,,1	C	ENST00000329492	Transcript	missense_variant	missense_variant	238/3381	104/2475	35/824	E/A	gAa/gCa		1		1	MAPK8IP2	HGNC	HGNC:6883	protein_coding	YES	CCDS74886.1	ENSP00000330572	Q13387			NM_012324.3	deleterious(0)	possibly_damaging(0.826)	2/12		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CGACGAAGATC	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	C	3	2	46	50601827	50601827	A	C	1	0	0	0	0	1	0	0	0	9209	246	9	5		5	MAPK8IP2	22	50601827	Missense_Mutation	SNP	A	TCGA-VD-A8KH-01A-11D-A39W-08	15185929	50601827	216641	15	670											
ANOS1	3730	BI	GRCh38	chrX	8731866	8731866	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaggcggagatgcgagtgatCtgcaggctcaggcacctgga	16	9	2	2	novel		TCGA-VD-A8KH-01A-11D-A39W-08	TCGA-VD-A8KH-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78ae4e14-a80a-4583-91ab-73f3bcb1b6d8	3e620f73-8c2b-40b5-a22e-6abc8f03b8c1	c.171G>T	p.Gln57His	p.Q57H	ENST00000262648	1/14	26	2	24	15			KAL1,missense_variant,p.Q57H,ENST00000262648,NM_000216.2,c.171G>T,MODERATE,YES,tolerated(1),benign(0),-1;KAL1,missense_variant,p.Q56H,ENST00000619786,,c.168G>T,MODERATE,,tolerated(1),benign(0.004),-1	A	ENST00000262648	Transcript	missense_variant	missense_variant	321/6314	171/2043	57/680	Q/H	caG/caT		1		-1	KAL1	HGNC	HGNC:6211	protein_coding	YES	CCDS14130.1	ENSP00000262648	P23352		UPI00001AE843	NM_000216.2	tolerated(1)	benign(0)	1/14																			MODERATE	1	SNV	1			1											PASS	GTGATCTGCAG	8485a382-1109-422f-8844-0cf46328938f	60917047-08f1-4023-a1b8-89235364ec78	cb578312-5cf9-4c63-af17-5bb9b4220402	39af6e0f-908c-4b2b-97b8-a4d1966e47e1			True	Unknown	A	3	1	46	8731866	8731866	C	A	1	0	0	0	0	1	0	0	0	812	912	32	5		5	ANOS1	23	8731866	Missense_Mutation	SNP	C	TCGA-VD-A8KH-01A-11D-A39W-08		8731866	147309029	16	671											
FAAP20	199990	BI	GRCh38	chr1	2193794	2193794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtgccctcctgccccGtgaagcagccggtaggaacg	13	15	0	1	rs772593583	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.315C>T	p.=	p.H105H	ENST00000378546	3/4	42	28	14	31			C1orf86,missense_variant,p.T60M,ENST00000400919,NM_001256945.1,c.179C>T,MODERATE,YES,,unknown(0),-1;C1orf86,missense_variant,p.T60M,ENST00000378543,NM_001256947.1,c.179C>T,MODERATE,,,unknown(0),-1;C1orf86,synonymous_variant,p.H105H,ENST00000420515,NM_001256946.1,c.314C>T,LOW,,,,-1;C1orf86,synonymous_variant,p.H105H,ENST00000400918,NM_001282673.1,c.315C>T,LOW,,,,-1;C1orf86,synonymous_variant,p.H105H,ENST00000378546,NM_182533.2,c.315C>T,LOW,,,,-1;C1orf86,non_coding_transcript_exon_variant,,ENST00000487186,,n.3187C>T,MODIFIER,,,,-1;C1orf86,non_coding_transcript_exon_variant,,ENST00000401813,,n.2154C>T,MODIFIER,,,,-1;C1orf86,non_coding_transcript_exon_variant,,ENST00000469733,,n.1075C>T,MODIFIER,,,,-1;C1orf86,non_coding_transcript_exon_variant,,ENST00000476803,,n.333C>T,MODIFIER,,,,-1;C1orf86,synonymous_variant,p.H103H,ENST00000428120,NM_001282671.1,c.307C>T,LOW,,,,-1;C1orf86,synonymous_variant,p.H105H,ENST00000414253,NM_001282672.1,c.315C>T,LOW,,,,-1;C1orf86,synonymous_variant,p.H57H,ENST00000440825,,c.169C>T,LOW,,,,-1;C1orf86,non_coding_transcript_exon_variant,,ENST00000497675,,n.228C>T,MODIFIER,,,,-1;C1orf86,downstream_gene_variant,,ENST00000514625,,,MODIFIER,,,,-1	A	ENST00000378546	Transcript	synonymous_variant	synonymous_variant	340/729	315/543	105/180	H	caC/caT	rs772593583	1		-1	C1orf86	HGNC	HGNC:26428	protein_coding		CCDS38.2	ENSP00000367808	Q6NZ36		UPI000155D483	NM_182533.2			3/4																			LOW		SNV	1			1	4.128e-05	4.365e-05	0.0003411	0	0	0	0	0.001196	6.077e-05		PASS	GCCCCGTGAAG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d	common_in_exac		True	Unknown	A	2	1	47	2193794	2193794	G	A	1	0	0	0	0	0	0	0	1	5225	1145	40	1		1	FAAP20	1	2193794	Silent	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		2193794	246762628	1	672											
C1orf94	84970	BI	GRCh38	chr1	34197631	34197631	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagcttctgtcccagTtcccactgaagtccactgag	8	14	2	2	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.727T>C	p.Phe243Leu	p.F243L	ENST00000488417	2/7	47	22	25	45			C1orf94,missense_variant,p.F243L,ENST00000488417,NM_001134734.1,c.727T>C,MODERATE,YES,tolerated(0.22),benign(0.088),1;C1orf94,missense_variant,p.F53L,ENST00000373374,NM_032884.4,c.157T>C,MODERATE,,tolerated(0.14),benign(0.088),1	C	ENST00000488417	Transcript	missense_variant	missense_variant	847/2287	727/1797	243/598	F/L	Ttc/Ctc		1		1	C1orf94	HGNC	HGNC:28250	protein_coding	YES	CCDS44108.1	ENSP00000435634	Q6P1W5		UPI0000D4BFB0	NM_001134734.1	tolerated(0.22)	benign(0.088)	2/7																			MODERATE	1	SNV	1			1											PASS	CCCAGTTCCCA	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	C	3	2	47	34197631	34197631	T	C	1	0	0	0	0	1	0	0	0	2000	1725	60	4		4	C1orf94	1	34197631	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08	32003837	34197631	214758791	2	673											
PTBP2	58155	BI	GRCh38	chr1	96813355	96813355	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgatcttcataattataacCttggagaaaaccatcatctg	5	8	4	2	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1546C>G	p.Leu516Val	p.L516V	ENST00000426398	14/14	96	60	36	61			PTBP2,missense_variant,p.L517V,ENST00000609116,NM_001300989.1,c.1549C>G,MODERATE,,deleterious(0.04),benign(0.001),1;PTBP2,missense_variant,p.L522V,ENST00000370197,NM_001300985.1,c.1564C>G,MODERATE,YES,deleterious(0.04),benign(0.002),1;PTBP2,missense_variant,p.L521V,ENST00000370198,NM_001300988.1,c.1561C>G,MODERATE,,deleterious(0.04),benign(0.001),1;PTBP2,missense_variant,p.L516V,ENST00000426398,NM_021190.2,c.1546C>G,MODERATE,,deleterious(0.04),benign(0.002),1;PTBP2,non_coding_transcript_exon_variant,,ENST00000482253,,n.1673C>G,MODIFIER,,,,1;PTBP2,non_coding_transcript_exon_variant,,ENST00000476419,,n.1558C>G,MODIFIER,,,,1;PTBP2,non_coding_transcript_exon_variant,,ENST00000476783,,n.687C>G,MODIFIER,,,,1;PTBP2,non_coding_transcript_exon_variant,,ENST00000492905,,n.684C>G,MODIFIER,,,,1;PTBP2,downstream_gene_variant,,ENST00000459735,,,MODIFIER,,,,1;PTBP2,downstream_gene_variant,,ENST00000462433,,,MODIFIER,,,,1	G	ENST00000426398	Transcript	missense_variant	missense_variant	1589/3027	1546/1596	516/531	L/V	Ctt/Gtt		1		1	PTBP2	HGNC	HGNC:17662	protein_coding		CCDS754.1	ENSP00000412788	Q9UKA9			NM_021190.2	deleterious(0.04)	benign(0.002)	14/14		Pfam_domain:PF00076;TIGRFAM_domain:TIGR01649;PROSITE_profiles:PS50102;SMART_domains:SM00360;Superfamily_domains:SSF54928																	MODERATE		SNV	1			1											PASS	ATAACCTTGGA	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	G	3	3	47	96813355	96813355	C	G	1	0	0	0	0	1	0	0	0	12878	681	24	5		5	PTBP2	1	96813355	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	62615724	96813355	152143067	3	674											
IL18R1	8809	BI	GRCh38	chr2	102381674	102381674	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttaaccatgttgcagTggaattaggtatatttcaat	8	5	1	0	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.680T>C	p.Val227Ala	p.V227A	ENST00000233957	6/11	33	20	13	30			IL18R1,missense_variant,p.V227A,ENST00000409599,,c.680T>C,MODERATE,YES,tolerated(0.26),benign(0.336),1;IL18R1,missense_variant,p.V227A,ENST00000233957,NM_003855.3&NM_001282399.1,c.680T>C,MODERATE,,tolerated(0.26),benign(0.336),1;IL18R1,missense_variant,p.V227A,ENST00000410040,,c.680T>C,MODERATE,,tolerated(0.26),benign(0.336),1	C	ENST00000233957	Transcript	missense_variant	missense_variant	826/3661	680/1626	227/541	V/A	gTg/gCg		1		1	IL18R1	HGNC	HGNC:5988	protein_coding		CCDS2060.1	ENSP00000233957	Q13478		UPI000012D871	NM_003855.3;NM_001282399.1	tolerated(0.26)	benign(0.336)	6/11		Prints_domain:PR01536;PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE		SNV	5			1											PASS	TGCAGTGGAAT	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	C	3	2	47	102381674	102381674	T	C	1	0	0	0	0	1	0	0	0	7555	1696	59	4		4	IL18R1	2	102381674	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		102381674	139811855	4	675											
CCNG2	901	BI	GRCh38	chr4	77158555	77158596	+	In_Frame_Del	DEL	ACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGA	ACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGA	-													gaaggatttgggggcagagcActtggcaggtcatgaagggg					novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC	p.Leu9_Asn22del	p.L9_N22del	ENST00000316355	2/8	105	83	22	110			CCNG2,inframe_deletion,p.L9_N22del,ENST00000316355,NM_004354.2,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,YES,,,1;CCNG2,inframe_deletion,p.L9_N22del,ENST00000509972,,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,,,,1;CCNG2,inframe_deletion,p.L9_N22del,ENST00000502280,,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,,,,1;CCNG2,inframe_deletion,p.L9_N22del,ENST00000395640,,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,,,,1;CCNG2,inframe_deletion,p.L9_N22del,ENST00000354403,,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,,,,1;CCNG2,inframe_deletion,p.L9_N22del,ENST00000512918,,c.25_66delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODERATE,,,,1;CCNG2,non_coding_transcript_exon_variant,,ENST00000497512,,n.307_348delTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAAC,MODIFIER,,,,1	-	ENST00000316355	Transcript	inframe_deletion	inframe_deletion	379-420/5526	23-64/1035	8-22/344	HLAGHEGVQLLGLLN/H	cACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAac/cac		1		1	CCNG2	HGNC	HGNC:1593	protein_coding	YES	CCDS3581.1	ENSP00000315743	Q16589	A0A024RDC7	UPI00001275D4	NM_004354.2			2/8		Superfamily_domains:SSF47954																	MODERATE	1	deletion	1	2		1											PASS	CAGAGCACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGAACGTC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			False	Unknown	-	7	5	47	77158555	77158555	ACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGA	-	1	0	1	0	1	0	0	0	0	2623	159	6	0		0	CCNG2	4	77158555	In_Frame_Del	DEL	ACTTGGCAGGTCATGAAGGGGTCCAACTTCTCGGGTTGTTGA	TCGA-VD-A8KI-01A-11D-A39W-08		77158555	113056000	5	676											
C4orf17	84103	BI	GRCh38	chr4	99541928	99541928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctgagcacaagcctcCactacttataagaagaaata	8	9	0	4	rs201530498	by1000G;byCluster	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.899C>T	p.Pro300Leu	p.P300L	ENST00000326581	9/9	35	20	15	37			C4orf17,missense_variant,p.P300L,ENST00000326581,NM_032149.2,c.899C>T,MODERATE,YES,tolerated(0.06),possibly_damaging(0.733),1;TRMT10A,downstream_gene_variant,,ENST00000273962,NM_152292.4,,MODIFIER,YES,,,-1;TRMT10A,downstream_gene_variant,,ENST00000394877,NM_001134665.1&NM_001134666.1,,MODIFIER,,,,-1;C4orf17,downstream_gene_variant,,ENST00000514652,,,MODIFIER,,,,1;C4orf17,3_prime_UTR_variant,,ENST00000477187,,c.*531C>T,MODIFIER,,,,1	T	ENST00000326581	Transcript	missense_variant	missense_variant	1261/1636	899/1080	300/359	P/L	cCa/cTa	rs201530498	1		1	C4orf17	HGNC	HGNC:25274	protein_coding	YES	CCDS3649.1	ENSP00000322582	Q53FE4		UPI0000141987	NM_032149.2	tolerated(0.06)	possibly_damaging(0.733)	9/9																			MODERATE	1	SNV	1			1	8.238e-06	8.496e-06	0	8.777e-05	0	0	0	0	0		PASS	GCCTCCACTAC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	3	4	47	99541928	99541928	C	T	1	0	0	0	0	1	0	0	0	2078	594	21	3		3	C4orf17	4	99541928	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	22383373	99541928	90672627	6	677											
KIAA1109	84162	BI	GRCh38	chr4	122353898	122353898	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggttaccaaaccatgtggtgCtttggaaagtcctatggcaa	11	8	0	0	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.14186C>G	p.Ala4729Gly	p.A4729G	ENST00000264501	82/86	46	28	18	45			KIAA1109,missense_variant,p.A4729G,ENST00000264501,,c.14186C>G,MODERATE,YES,,probably_damaging(0.992),1;KIAA1109,missense_variant,p.A4729G,ENST00000388738,NM_015312.3,c.14186C>G,MODERATE,,,probably_damaging(0.992),1;KIAA1109,missense_variant,p.A1398G,ENST00000438707,,c.4193C>G,MODERATE,,deleterious(0.02),probably_damaging(0.995),1;KIAA1109,missense_variant,p.A1105G,ENST00000306802,,c.3313C>G,MODERATE,,deleterious(0.01),benign(0.444),1;KIAA1109,downstream_gene_variant,,ENST00000491933,,,MODIFIER,,,,1	G	ENST00000264501	Transcript	missense_variant	missense_variant	14559/15896	14186/15018	4729/5005	A/G	gCt/gGt		1		1	KIAA1109	HGNC	HGNC:26953	protein_coding	YES	CCDS43267.1	ENSP00000264501	Q2LD37		UPI0000DD87B4			probably_damaging(0.992)	82/86		Pfam_domain:PF10479																	MODERATE	1	SNV	5			1											PASS	TGGTGCTTTGG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	G	3	3	47	122353898	122353898	C	G	1	0	0	0	0	1	0	0	0	8101	797	28	5		5	KIAA1109	4	122353898	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	22811970	122353898	67860657	7	678											
DMXL1	1657	BI	GRCh38	chr5	119134000	119134000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaataaaagcactgttgaCgtggcatttcaggatcccag	9	9	1	1	rs141146454	by1000G;byCluster;byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.2076C>T	p.=	p.D692D	ENST00000311085	12/43	118	66	52	114			DMXL1,synonymous_variant,p.D692D,ENST00000539542,NM_001290321.2,c.2076C>T,LOW,YES,,,1;DMXL1,synonymous_variant,p.D692D,ENST00000311085,NM_005509.4,c.2076C>T,LOW,,,,1;DMXL1,downstream_gene_variant,,ENST00000503802,,,MODIFIER,,,,1;RNU6-701P,upstream_gene_variant,,ENST00000384059,,,MODIFIER,YES,,,1;DMXL1,downstream_gene_variant,,ENST00000514151,,,MODIFIER,,,,1;DMXL1,upstream_gene_variant,,ENST00000512281,,,MODIFIER,,,,1;DMXL1,downstream_gene_variant,,ENST00000504031,,,MODIFIER,,,,1;LAMTOR3P2,upstream_gene_variant,,ENST00000504479,,,MODIFIER,YES,,,-1	T	ENST00000311085	Transcript	synonymous_variant	synonymous_variant	2156/11072	2076/9084	692/3027	D	gaC/gaT	rs141146454	1		1	DMXL1	HGNC	HGNC:2937	protein_coding		CCDS4125.1	ENSP00000309690	Q9Y485		UPI000013F0EC	NM_005509.4			12/43		Superfamily_domains:SSF50978		0	0.0014		0	0.002	0.001	2e-04	5e-04								LOW		SNV	1			1	0.0003377	0.0003378	9.614e-05	0.0003455	0	0	0.0004197	0	0.0004846		panel_of_normals	GTTGACGTGGC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d	common_in_exac;gdc_pon	COSM4585341;COSM4585342	True	Unknown	T	2	4	47	119134000	119134000	C	T	1	0	0	0	0	0	0	0	1	4403	535	19	1		1	DMXL1	5	119134000	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		119134000	62404259	8	679											
SQSTM1	8878	BI	GRCh38	chr5	179824203	179824203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctcgcacagccgctggCtccggaaggtgaaacacgga	13	13	1	1	rs753313263		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.553C>T	p.Leu185Phe	p.L185F	ENST00000389805	4/8	51	29	22	54			SQSTM1,missense_variant,p.L185F,ENST00000389805,NM_003900.4,c.553C>T,MODERATE,YES,tolerated(0.18),benign(0.009),1;SQSTM1,missense_variant,p.L101F,ENST00000360718,NM_001142299.1&NM_001142298.1,c.301C>T,MODERATE,,tolerated(0.17),benign(0.009),1;SQSTM1,missense_variant,p.L185F,ENST00000510187,,c.553C>T,MODERATE,,tolerated(0.17),benign(0.055),1;SQSTM1,missense_variant,p.L101F,ENST00000514093,,c.301C>T,MODERATE,,tolerated(0.16),benign(0.009),1;SQSTM1,missense_variant,p.L101F,ENST00000422245,,c.301C>T,MODERATE,,tolerated(0.17),benign(0.009),1;SQSTM1,downstream_gene_variant,,ENST00000504627,,,MODIFIER,,,,1;SQSTM1,downstream_gene_variant,,ENST00000626660,,,MODIFIER,,,,1;SQSTM1,non_coding_transcript_exon_variant,,ENST00000464493,,n.448C>T,MODIFIER,,,,1;SQSTM1,downstream_gene_variant,,ENST00000481335,,,MODIFIER,,,,1;SQSTM1,3_prime_UTR_variant,,ENST00000508284,,c.*275C>T,MODIFIER,,,,1;SQSTM1,non_coding_transcript_exon_variant,,ENST00000466342,,n.252C>T,MODIFIER,,,,1;SQSTM1,non_coding_transcript_exon_variant,,ENST00000485412,,n.545C>T,MODIFIER,,,,1;SQSTM1,downstream_gene_variant,,ENST00000453046,,,MODIFIER,,,,1	T	ENST00000389805	Transcript	missense_variant	missense_variant	731/2986	553/1323	185/440	L/F	Ctc/Ttc	rs753313263	1		1	SQSTM1	HGNC	HGNC:11280	protein_coding	YES	CCDS34317.1	ENSP00000374455	Q13501		UPI0000071099	NM_003900.4	tolerated(0.18)	benign(0.009)	4/8																			MODERATE	1	SNV	1			1	8.236e-06	8.335e-06	0	0	0	0	0	0	6.058e-05		PASS	GCTGGCTCCGG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	3	4	47	179824203	179824203	C	T	1	0	0	0	0	1	0	0	0	15489	797	28	3		3	SQSTM1	5	179824203	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	60690203	179824203	1714056	9	680											
FOXF2	2295	BI	GRCh38	chr6	1391103	1391103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctacttgcaccagaacgctCgcgaggacctctcaggtaac	10	14	1	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1156C>T	p.Arg386Cys	p.R386C	ENST00000259806	1/2	24	12	12	19			FOXF2,missense_variant,p.R386C,ENST00000259806,NM_001452.1,c.1156C>T,MODERATE,YES,deleterious(0.01),benign(0.428),1;MIR6720,upstream_gene_variant,,ENST00000611664,,,MODIFIER,YES,,,-1	T	ENST00000259806	Transcript	missense_variant	missense_variant	1270/2187	1156/1335	386/444	R/C	Cgc/Tgc		1		1	FOXF2	HGNC	HGNC:3810	protein_coding	YES	CCDS4472.1	ENSP00000259806	Q12947		UPI000012ADD6	NM_001452.1	deleterious(0.01)	benign(0.428)	1/2																			MODERATE	1	SNV	1			1											PASS	ACGCTCGCGAG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	3	4	47	1391103	1391103	C	T	1	0	0	0	0	1	0	0	0	5868	884	31	2		2	FOXF2	6	1391103	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		1391103	169414876	10	681											
BZW2	28969	BI	GRCh38	chr7	16682791	16682791	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttttaggtcttcaataaActcatcaggagatataagta	6	5	4	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.351A>G	p.=	p.K117K	ENST00000258761	5/12	46	39	7	42			BZW2,synonymous_variant,p.K117K,ENST00000433922,NM_001159767.1,c.351A>G,LOW,YES,,,1;BZW2,synonymous_variant,p.K117K,ENST00000258761,NM_014038.2,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000630952,,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K41K,ENST00000405202,,c.123A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000415365,,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000446596,,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000438834,,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000430000,,c.351A>G,LOW,,,,1;BZW2,5_prime_UTR_variant,,ENST00000452975,,c.-87A>G,MODIFIER,,,,1;BZW2,non_coding_transcript_exon_variant,,ENST00000432311,,n.503A>G,MODIFIER,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000436868,,c.351A>G,LOW,,,,1;BZW2,synonymous_variant,p.K117K,ENST00000437745,,c.351A>G,LOW,,,,1;BZW2,non_coding_transcript_exon_variant,,ENST00000480517,,n.397A>G,MODIFIER,,,,1	G	ENST00000258761	Transcript	synonymous_variant	synonymous_variant	516/1860	351/1260	117/419	K	aaA/aaG		1		1	BZW2	HGNC	HGNC:18808	protein_coding		CCDS5362.1	ENSP00000258761	Q9Y6E2	A0A024RA42	UPI000003B445	NM_014038.2			5/12																			LOW		SNV	1			1											PASS	AATAAACTCAT	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	G	2	3	47	16682791	16682791	A	G	1	0	0	0	0	0	0	0	1	1754	40	2	4		4	BZW2	7	16682791	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		16682791	142663182	11	682											
HOXA4	3201	BI	GRCh38	chr7	27129240	27129240	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagattatatggaggagggAacgggtgtggaggtgctcgg	20	3	0	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.948T>A	p.=	p.V316V	ENST00000360046	2/2	24	18	6	41			HOXA4,synonymous_variant,p.V316V,ENST00000360046,,c.948T>A,LOW,YES,,,-1;HOXA4,synonymous_variant,p.V316V,ENST00000610970,NM_002141.4,c.948T>A,LOW,,,,-1;HOXA4,synonymous_variant,p.V316V,ENST00000428284,,c.948T>A,LOW,,,,-1;HOXA4,synonymous_variant,p.V136V,ENST00000511914,,c.406T>A,LOW,,,,-1;HOXA3,intron_variant,,ENST00000317201,,c.-389-2170T>A,MODIFIER,,,,-1;HOXA3,intron_variant,,ENST00000522788,,c.-204-6598T>A,MODIFIER,,,,-1;HOXA3,upstream_gene_variant,,ENST00000612286,NM_153631.2,,MODIFIER,YES,,,-1;HOXA-AS2,intron_variant,,ENST00000521159,,n.578+4630A>T,MODIFIER,,,,1;HOXA-AS2,downstream_gene_variant,,ENST00000517550,,,MODIFIER,,,,1;HOXA-AS2,downstream_gene_variant,,ENST00000521687,,,MODIFIER,,,,1;HOXA-AS3,upstream_gene_variant,,ENST00000518848,,,MODIFIER,,,,1;HOXA-AS2,downstream_gene_variant,,ENST00000524048,,,MODIFIER,,,,1;RP1-170O19.22,non_coding_transcript_exon_variant,,ENST00000467897,,n.648T>A,MODIFIER,YES,,,-1;HOXA3,intron_variant,,ENST00000521401,,n.144-2170T>A,MODIFIER,,,,-1;HOXA3,intron_variant,,ENST00000518451,,n.399-2170T>A,MODIFIER,,,,-1	T	ENST00000360046	Transcript	synonymous_variant	synonymous_variant	1014/1747	948/963	316/320	V	gtT/gtA		1		-1	HOXA4	HGNC	HGNC:5105	protein_coding	YES	CCDS5405.1	ENSP00000353151	Q00056		UPI000013C810				2/2		Low_complexity_(Seg):Seg																	LOW	1	SNV	2			1											PASS	GAGGGAACGGG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	2	4	47	27129240	27129240	A	T	1	0	0	0	0	0	0	0	1	7188	233	9	5		5	HOXA4	7	27129240	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	10446449	27129240	132216733	12	683											
STYXL1	51657	BI	GRCh38	chr7	75996567	75996567	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgatttggacacatgttGtttttgcacttcttgacata	7	10	1	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.843C>T	p.=	p.N281N	ENST00000248600	9/9	72	34	38	57			STYXL1,stop_gained,p.Q199*,ENST00000454618,,c.595C>T,HIGH,,,,-1;STYXL1,synonymous_variant,p.N281N,ENST00000248600,NM_016086.2,c.843C>T,LOW,YES,,,-1;STYXL1,synonymous_variant,p.N281N,ENST00000359697,,c.843C>T,LOW,,,,-1;STYXL1,synonymous_variant,p.N281N,ENST00000431581,,c.843C>T,LOW,,,,-1;STYXL1,synonymous_variant,p.N185N,ENST00000360591,,c.555C>T,LOW,,,,-1;STYXL1,synonymous_variant,p.N185N,ENST00000340062,,c.555C>T,LOW,,,,-1;STYXL1,downstream_gene_variant,,ENST00000451157,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000493111,NM_031925.2,,MODIFIER,YES,,,-1;TMEM120A,upstream_gene_variant,,ENST00000417509,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000439537,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000485200,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000431867,,,MODIFIER,,,,-1;STYXL1,3_prime_UTR_variant,,ENST00000438695,,c.*358C>T,MODIFIER,,,,-1;STYXL1,3_prime_UTR_variant,,ENST00000430497,,c.*245C>T,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000440632,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000480538,,,MODIFIER,,,,-1;TMEM120A,upstream_gene_variant,,ENST00000465494,,,MODIFIER,,,,-1	A	ENST00000248600	Transcript	synonymous_variant	synonymous_variant	1186/1415	843/942	281/313	N	aaC/aaT		1		-1	STYXL1	HGNC	HGNC:18165	protein_coding	YES	CCDS5580.1	ENSP00000248600	Q9Y6J8	A0A024R4L1	UPI000012F694	NM_016086.2			9/9		Pfam_domain:PF00782;PROSITE_profiles:PS50054;SMART_domains:SM00195;Superfamily_domains:SSF52799																	LOW	1	SNV	1			1											PASS	ATGTTGTTTTT	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	A	2	1	47	75996567	75996567	G	A	1	0	0	0	0	0	0	0	1	15745	1368	48	3		3	STYXL1	7	75996567	Silent	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08	48867327	75996567	83349406	13	684											
GNAQ	2776	BI	GRCh38	chr9	77922339	77922339	+	Missense_Mutation	SNP	C	C	A													acgtactcttgccactctctCctgtccctgaaagatgaaca					novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.143G>T	p.Gly48Val	p.G48V	ENST00000286548	2/7	79	49	30	77			GNAQ,missense_variant,p.G48V,ENST00000286548,NM_002072.4,c.143G>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;GNAQ,missense_variant,p.G19V,ENST00000411677,,c.56G>T,MODERATE,,deleterious(0),probably_damaging(1),-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	366/6539	143/1080	48/359	G/V	gGa/gTa		1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(1)	2/7		Pfam_domain:PF00503;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	TCTCTCCTGTC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	A	3	1	47	77922339	77922339	C	A	1	0	0	0	0	1	0	0	0	6389	855	30	5		5	GNAQ	9	77922339	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		77922339	60472378	14	685	9	2									
GNAQ	2776	BI	GRCh38	chr9	77922340	77922340	+	Nonsense_Mutation	SNP	C	C	A													cgtactcttgccactctctcCtgtccctgaaagatgaacaa					novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.142G>T	p.Gly48Ter	p.G48*	ENST00000286548	2/7	78	49	29	76			GNAQ,stop_gained,p.G48*,ENST00000286548,NM_002072.4,c.142G>T,HIGH,YES,,,-1;GNAQ,stop_gained,p.G19*,ENST00000411677,,c.55G>T,HIGH,,,,-1	A	ENST00000286548	Transcript	stop_gained	stop_gained	365/6539	142/1080	48/359	G/*	Gga/Tga		1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4			2/7		Pfam_domain:PF00503;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	HIGH	1	SNV	1			1											PASS	CTCTCCTGTCC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	A	4	1	47	77922340	77922340	C	A	1	0	0	0	0	0	1	0	0	6389	695	24	5		5	GNAQ	9	77922340	Nonsense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	1	77922340	60472377	15	686	9	2									
NCAM1	4684	BI	GRCh38	chr11	113232233	113232233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaccaggtgaacatcaCctgcgaggtatttgcctatc	12	10	1	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1304C>T	p.Thr435Ile	p.T435I	ENST00000316851	11/20	31	18	13	23			NCAM1,missense_variant,p.T461I,ENST00000615285,,c.1382C>T,MODERATE,,deleterious(0),probably_damaging(0.982),1;NCAM1,missense_variant,p.T435I,ENST00000615112,,c.1304C>T,MODERATE,,deleterious(0),probably_damaging(0.985),1;NCAM1,missense_variant,p.T425I,ENST00000618266,,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;NCAM1,missense_variant,p.T435I,ENST00000316851,NM_181351.4,c.1304C>T,MODERATE,,deleterious(0),probably_damaging(0.972),1;NCAM1,missense_variant,p.T425I,ENST00000621518,,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;NCAM1,missense_variant,p.T425I,ENST00000621128,NM_001242608.1,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.982),1;NCAM1,missense_variant,p.T461I,ENST00000619839,NM_001242607.1,c.1382C>T,MODERATE,YES,deleterious(0),probably_damaging(0.969),1;NCAM1,missense_variant,p.T425I,ENST00000531044,NM_000615.6,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.985),1;NCAM1,missense_variant,p.T425I,ENST00000621850,NM_001076682.3,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;NCAM1,missense_variant,p.T425I,ENST00000401611,,c.1274C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;NCAM1,intron_variant,,ENST00000620046,,c.53-23644C>T,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000533073,,,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000526322,,,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000528590,,,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000530543,,,MODIFIER,,,,1;NCAM1,downstream_gene_variant,,ENST00000613217,,,MODIFIER,,,,1;NCAM1,non_coding_transcript_exon_variant,,ENST00000611284,,n.1743C>T,MODIFIER,,,,1;NCAM1,non_coding_transcript_exon_variant,,ENST00000534046,,n.480C>T,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000531817,,,MODIFIER,,,,1;NCAM1,upstream_gene_variant,,ENST00000525355,,,MODIFIER,,,,1	T	ENST00000316851	Transcript	missense_variant	missense_variant	1515/5837	1304/2577	435/858	T/I	aCc/aTc		1		1	NCAM1	HGNC	HGNC:7656	protein_coding		CCDS73385.1	ENSP00000318472	P13591		UPI0000E445E3	NM_181351.4	deleterious(0)	probably_damaging(0.972)	11/20		Pfam_domain:PF07679;Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE		SNV	5			1											PASS	CATCACCTGCG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	3	4	47	113232233	113232233	C	T	1	0	0	0	0	1	0	0	0	10218	507	18	3		3	NCAM1	11	113232233	Missense_Mutation	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08		113232233	21854389	16	687											
HEPN1	641654	BI	GRCh38	chr11	124920011	124920011	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcctctttattttgatgttAgtgtgattagggagtctgcc	11	6	2	2	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.261A>G	p.=	p.L87L	ENST00000408930	1/1	56	36	20	60			HEPN1,synonymous_variant,p.L87L,ENST00000408930,NM_001037558.2,c.261A>G,LOW,YES,,,1;HEPACAM,3_prime_UTR_variant,,ENST00000298251,NM_152722.4,c.*1127T>C,MODIFIER,YES,,,-1;HEPACAM,downstream_gene_variant,,ENST00000528971,,,MODIFIER,,,,-1;HEPACAM,downstream_gene_variant,,ENST00000526273,,,MODIFIER,,,,-1	G	ENST00000408930	Transcript	synonymous_variant	synonymous_variant	768/1434	261/267	87/88	L	ttA/ttG		1		1	HEPN1	HGNC	HGNC:34400	protein_coding	YES	CCDS41729.1	ENSP00000386143	Q6WQI6		UPI0000D6269C	NM_001037558.2			1/1																			LOW		SNV				1											PASS	ATGTTAGTGTG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	G	2	3	47	124920011	124920011	A	G	1	0	0	0	0	0	0	0	1	6940	417	15	4		4	HEPN1	11	124920011	Silent	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08	11687778	124920011	10166611	17	688											
TYRO3	7301	BI	GRCh38	chr15	41571600	41571600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccccttctcctagctgacAtcattgcctcaagcgacatt	5	15	3	1	rs764493866	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1666A>G	p.Ile556Val	p.I556V	ENST00000263798	14/19	87	39	48	66			TYRO3,missense_variant,p.I556V,ENST00000263798,NM_006293.3,c.1666A>G,MODERATE,YES,tolerated(0.06),possibly_damaging(0.8),1;TYRO3,missense_variant,p.I511V,ENST00000559066,,c.1531A>G,MODERATE,,tolerated(0.06),possibly_damaging(0.8),1;TYRO3,missense_variant,p.I38V,ENST00000568343,,c.110A>G,MODERATE,,tolerated(0.15),benign(0.391),1;TYRO3,3_prime_UTR_variant,,ENST00000559851,,c.*2A>G,MODIFIER,,,,1;TYRO3,non_coding_transcript_exon_variant,,ENST00000560162,,n.187A>G,MODIFIER,,,,1;TYRO3,downstream_gene_variant,,ENST00000560227,,,MODIFIER,,,,1;TYRO3,downstream_gene_variant,,ENST00000559815,,,MODIFIER,,,,1	G	ENST00000263798	Transcript	missense_variant	missense_variant	1890/8207	1666/2673	556/890	I/V	Atc/Gtc	rs764493866	1		1	TYRO3	HGNC	HGNC:12446	protein_coding	YES	CCDS10080.1	ENSP00000263798	Q06418		UPI000013788A	NM_006293.3	tolerated(0.06)	possibly_damaging(0.8)	14/19		Pfam_domain:PF07714;Pfam_domain:PF00069;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1	2.471e-05	2.472e-05	9.614e-05	0	0	0	2.999e-05	0	0		panel_of_normals	CTGACATCATT	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d	gdc_pon		True	Unknown	G	3	3	47	41571600	41571600	A	G	1	0	0	0	0	1	0	0	0	17329	231	8	4		4	TYRO3	15	41571600	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		41571600	60419589	18	689											
NOD2	64127	BI	GRCh38	chr16	50723338	50723338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagtgtgggtgcccaaGccttggcactgatgctggca	15	10	0	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.2836G>A	p.Ala946Thr	p.A946T	ENST00000300589	9/12	30	17	13	23			NOD2,missense_variant,p.A946T,ENST00000300589,NM_022162.1&NM_001293557.1,c.2836G>A,MODERATE,YES,deleterious(0),probably_damaging(0.96),1;NOD2,missense_variant,p.A158T,ENST00000534057,,c.470G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.557),1;NOD2,3_prime_UTR_variant,,ENST00000534067,,c.*385G>A,MODIFIER,,,,1;NOD2,3_prime_UTR_variant,,ENST00000529633,,c.*233G>A,MODIFIER,,,,1;NOD2,3_prime_UTR_variant,,ENST00000524712,,c.*149G>A,MODIFIER,,,,1;NOD2,3_prime_UTR_variant,,ENST00000527052,,c.*121G>A,MODIFIER,,,,1	A	ENST00000300589	Transcript	missense_variant	missense_variant	2941/4486	2836/3123	946/1040	A/T	Gcc/Acc		1		1	NOD2	HGNC	HGNC:5331	protein_coding	YES	CCDS10746.1	ENSP00000300589	Q9HC29		UPI000005027A	NM_022162.1;NM_001293557.1	deleterious(0)	probably_damaging(0.96)	9/12		SMART_domains:SM00368;Superfamily_domains:SSF52047																	MODERATE	1	SNV	2			1											PASS	CCCAAGCCTTG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	A	3	1	47	50723338	50723338	G	A	1	0	0	0	0	1	0	0	0	10560	971	34	3		3	NOD2	16	50723338	Missense_Mutation	SNP	G	TCGA-VD-A8KI-01A-11D-A39W-08		50723338	39615007	19	690											
FANCA	2175	BI	GRCh38	chr16	89815970	89815970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaggattatatttttcCctcttgacccttcccgctac	4	14	2	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.96G>A	p.=	p.R32R	ENST00000389301	2/43	42	25	17	55			FANCA,synonymous_variant,p.R32R,ENST00000389301,NM_000135.2,c.96G>A,LOW,YES,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000568369,NM_001286167.1,c.96G>A,LOW,,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000563673,,c.96G>A,LOW,,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000389302,NM_001018112.1,c.96G>A,LOW,,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000534992,,c.96G>A,LOW,,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000543736,,c.96G>A,LOW,,,,-1;SPIRE2,upstream_gene_variant,,ENST00000564878,,,MODIFIER,,,,1;SPIRE2,upstream_gene_variant,,ENST00000565103,,,MODIFIER,,,,1;FANCA,synonymous_variant,p.R3R,ENST00000565582,,c.9G>A,LOW,,,,-1;FANCA,synonymous_variant,p.R32R,ENST00000563513,,c.96G>A,LOW,,,,-1;FANCA,3_prime_UTR_variant,,ENST00000567943,,c.*76G>A,MODIFIER,,,,-1;FANCA,non_coding_transcript_exon_variant,,ENST00000566889,,n.678G>A,MODIFIER,,,,-1;FANCA,non_coding_transcript_exon_variant,,ENST00000567883,,n.89G>A,MODIFIER,,,,-1	T	ENST00000389301	Transcript	synonymous_variant	synonymous_variant	127/5451	96/4368	32/1455	R	agG/agA		1		-1	FANCA	HGNC	HGNC:3582	protein_coding	YES	CCDS32515.1	ENSP00000373952	O15360		UPI0000520A1A	NM_000135.2			2/43																			LOW	1	SNV	1			1											PASS	TTTTCCCTCTT	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	2	4	47	89815970	89815970	C	T	1	0	0	0	0	0	0	0	1	5521	622	22	3		3	FANCA	16	89815970	Silent	SNP	C	TCGA-VD-A8KI-01A-11D-A39W-08	39092632	89815970	522375	20	691											
SULF2	55959	BI	GRCh38	chr20	47666434	47666434	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtacaccctgccgtccAcctcgatggccactgagcgg	12	16	0	1	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1631T>A	p.Val544Glu	p.V544E	ENST00000359930	12/21	75	44	31	63			SULF2,missense_variant,p.V544E,ENST00000359930,NM_018837.3,c.1631T>A,MODERATE,YES,tolerated(0.19),benign(0.005),-1;SULF2,missense_variant,p.V544E,ENST00000484875,NM_001161841.1,c.1631T>A,MODERATE,,tolerated(0.19),benign(0.005),-1;SULF2,missense_variant,p.V544E,ENST00000467815,NM_198596.2,c.1631T>A,MODERATE,,tolerated(0.22),benign(0.003),-1;SULF2,upstream_gene_variant,,ENST00000495544,,,MODIFIER,,,,-1;SULF2,upstream_gene_variant,,ENST00000433632,,,MODIFIER,,,,-1	T	ENST00000359930	Transcript	missense_variant	missense_variant	2483/4915	1631/2613	544/870	V/E	gTg/gAg		1		-1	SULF2	HGNC	HGNC:20392	protein_coding	YES	CCDS13408.1	ENSP00000353007	Q8IWU5			NM_018837.3	tolerated(0.19)	benign(0.005)	12/21		Pfam_domain:PF12548;Superfamily_domains:SSF53649;PIRSF_domain:PIRSF036665																	MODERATE	1	SNV	1			1											PASS	CGTCCACCTCG	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	T	3	4	47	47666434	47666434	A	T	1	0	0	0	0	1	0	0	0	15759	159	6	5		5	SULF2	20	47666434	Missense_Mutation	SNP	A	TCGA-VD-A8KI-01A-11D-A39W-08		47666434	16777733	21	692											
ATP1B4	23439	BI	GRCh38	chrX	120379612	120379612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgggcagggtaatctTtaccctgaacatagaaactt	9	7	1	2	novel		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	c.1052T>C	p.Phe351Ser	p.F351S	ENST00000218008	8/8	50	5	45	66			ATP1B4,missense_variant,p.F308S,ENST00000539306,,c.923T>C,MODERATE,,deleterious(0),probably_damaging(1),1;ATP1B4,missense_variant,p.F351S,ENST00000218008,NM_001142447.2,c.1052T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ATP1B4,missense_variant,p.F347S,ENST00000361319,NM_012069.4,c.1040T>C,MODERATE,,deleterious(0),probably_damaging(0.999),1	C	ENST00000218008	Transcript	missense_variant	missense_variant	1109/3868	1052/1074	351/357	F/S	tTt/tCt		1		1	ATP1B4	HGNC	HGNC:808	protein_coding	YES	CCDS48158.1	ENSP00000218008	Q9UN42			NM_001142447.2	deleterious(0)	probably_damaging(1)	8/8		Pfam_domain:PF00287;TIGRFAM_domain:TIGR01107																	MODERATE	1	SNV	1			1											PASS	AATCTTTACCC	b0b3a89c-dd70-462d-b7ab-d4d3497ab186	d73cce86-7238-4db1-9a2b-154646f9641b	2761d11d-3d1c-48fd-b655-91ad49a7da5a	22e7816d-4be9-4f84-b487-baa6ca35452d			True	Unknown	C	3	2	47	120379612	120379612	T	C	1	0	0	0	0	1	0	0	0	1287	1841	64	4		4	ATP1B4	23	120379612	Missense_Mutation	SNP	T	TCGA-VD-A8KI-01A-11D-A39W-08		120379612	35661283	22	693											
ODC1	4953	BI	GRCh38	chr2	10442083	10442083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcgtgaaagctgatGcaacatagtatctgccgggc	12	10	1	2	novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.842C>T	p.Ala281Val	p.A281V	ENST00000234111	9/12	68	61	7	97			ODC1,missense_variant,p.A281V,ENST00000234111,NM_002539.2&NM_001287188.1,c.842C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),-1;ODC1,missense_variant,p.A281V,ENST00000405333,NM_001287189.1&NM_001287190.1,c.842C>T,MODERATE,,deleterious(0.01),probably_damaging(0.996),-1;ODC1,downstream_gene_variant,,ENST00000443218,,,MODIFIER,,,,-1;SNORA80B,downstream_gene_variant,,ENST00000383906,,,MODIFIER,YES,,,-1;ODC1,downstream_gene_variant,,ENST00000446285,,,MODIFIER,,,,-1	A	ENST00000234111	Transcript	missense_variant	missense_variant	1353/2653	842/1386	281/461	A/V	gCa/gTa		1		-1	ODC1	HGNC	HGNC:8109	protein_coding	YES	CCDS1672.1	ENSP00000234111	P11926		UPI0000001283	NM_002539.2;NM_001287188.1	deleterious(0.01)	probably_damaging(0.996)	9/12		Pfam_domain:PF02784;Prints_domain:PR01179;Superfamily_domains:SSF51419;Superfamily_domains:SSF50621																	MODERATE	1	SNV	1			1											PASS	CTGATGCAACA	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			True	Unknown	A	3	1	48	10442083	10442083	G	A	1	0	0	0	0	1	0	0	0	10903	1319	46	3		3	ODC1	2	10442083	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		10442083	231751446	1	694											
NFE2L2	4780	BI	GRCh38	chr2	177231524	177231524	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catagctggaagattccactGagtgttctggtgatgccaca	11	9	1	3	novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.1079C>A	p.Ser360Ter	p.S360*	ENST00000397062	5/5	180	159	21	174			NFE2L2,stop_gained,p.S360*,ENST00000397062,NM_006164.4,c.1079C>A,HIGH,YES,,,-1;NFE2L2,stop_gained,p.S344*,ENST00000464747,,c.1031C>A,HIGH,,,,-1;NFE2L2,stop_gained,p.S344*,ENST00000397063,NM_001145412.2,c.1031C>A,HIGH,,,,-1;NFE2L2,stop_gained,p.S337*,ENST00000446151,NM_001145413.2,c.1010C>A,HIGH,,,,-1;NFE2L2,stop_gained,p.S88*,ENST00000449627,,c.263C>A,HIGH,,,,-1;NFE2L2,intron_variant,,ENST00000458603,,c.96+868C>A,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000423513,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000421929,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000448782,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000586532,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000588123,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000430047,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000477534,,,MODIFIER,,,,-1;NFE2L2,downstream_gene_variant,,ENST00000462023,,,MODIFIER,,,,-1;DNAJC19P5,upstream_gene_variant,,ENST00000443295,,,MODIFIER,YES,,,-1	T	ENST00000397062	Transcript	stop_gained	stop_gained	1634/2853	1079/1818	360/605	S/*	tCa/tAa		1		-1	NFE2L2	HGNC	HGNC:7782	protein_coding	YES	CCDS42782.1	ENSP00000380252	Q16236		UPI000012FFD0	NM_006164.4			5/5		Superfamily_domains:SSF56574																	HIGH	1	SNV	1			1											PASS	CCACTGAGTGT	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			True	Unknown	T	4	4	48	177231524	177231524	G	T	1	0	0	0	0	0	1	0	0	10405	1294	45	5		5	NFE2L2	2	177231524	Nonsense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08	166789441	177231524	64962005	2	695											
CLEC3B	7123	BI	GRCh38	chr3	45035767	45035767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggacatgaccggcgcccGcatcgcctacaagaactggg	14	13	0	2	rs764661463		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.452G>A	p.Arg151His	p.R151H	ENST00000296130	3/3	36	32	4	63			CLEC3B,missense_variant,p.R151H,ENST00000296130,NM_003278.2,c.452G>A,MODERATE,YES,tolerated(0.17),benign(0.002),1;CLEC3B,missense_variant,p.R109H,ENST00000428034,,c.326G>A,MODERATE,,tolerated(0.21),benign(0.002),1;RNU5B-3P,upstream_gene_variant,,ENST00000516601,,,MODIFIER,YES,,,-1;EXOSC7,non_coding_transcript_exon_variant,,ENST00000481405,,n.469G>A,MODIFIER,,,,1;CLEC3B,non_coding_transcript_exon_variant,,ENST00000490386,,n.404G>A,MODIFIER,,,,1	A	ENST00000296130	Transcript	missense_variant	missense_variant	632/936	452/609	151/202	R/H	cGc/cAc	rs764661463	1		1	CLEC3B	HGNC	HGNC:11891	protein_coding	YES	CCDS2726.1	ENSP00000296130	P05452	A0A024R2Q7		NM_003278.2	tolerated(0.17)	benign(0.002)	3/3		Pfam_domain:PF00059;Prints_domain:PR01504;PROSITE_profiles:PS50041;SMART_domains:SM00034;Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1	8.239e-06	8.42e-06	0	0	0	0	1.542e-05	0	0		PASS	CGCCCGCATCG	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3		COSM1045140	True	Unknown	A	3	1	48	45035767	45035767	G	A	1	0	0	0	0	1	0	0	0	3279	1087	38	2		2	CLEC3B	3	45035767	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		45035767	153259792	3	696											
SIM1	6492	BI	GRCh38	chr6	100449642	100449643	+	Frame_Shift_Ins	INS	-	-	TCCTGTGTAA													gcggtgagcaccgccgtcatINSctcgtcgtggtctgccgggt					novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.405_406insTTACACAGGA	p.Met136LeufsTer23	p.M136Lfs*23	ENST00000262901	4/11	51	47	4	64			SIM1,frameshift_variant,p.M136Lfs*23,ENST00000369208,,c.405_406insTTACACAGGA,HIGH,YES,,,-1;SIM1,frameshift_variant,p.M136Lfs*23,ENST00000262901,NM_005068.2,c.405_406insTTACACAGGA,HIGH,,,,-1	TCCTGTGTAA	ENST00000262901	Transcript	frameshift_variant	frameshift_variant	614-615/3999	405-406/2301	135-136/766	-/LHRX	-/TTACACAGGA		1		-1	SIM1	HGNC	HGNC:10882	protein_coding		CCDS5045.1	ENSP00000262901	P81133		UPI000013D355	NM_005068.2			4/11		Pfam_domain:PF00989;PROSITE_profiles:PS50112;SMART_domains:SM00091;Superfamily_domains:SSF55785																	HIGH		insertion	1			1											PASS	CGTCATCTCGT	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	TCCTGTGTAA	7	5	48	100449642	100449642	-	TCCTGTGTAA	1	0	1	1	0	0	0	0	0	14586	1435	50	0		0	SIM1	6	100449642	Frame_Shift_Ins	INS	-	TCGA-VD-A8KJ-01A-11D-A39W-08		100449642	70356337	4	697											
PKHD1L1	93035	BI	GRCh38	chr8	109443849	109443849	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgtccactggaacagtaaatGaactaataacaattattgga	7	7	0	1			TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.4738G>A	p.Glu1580Lys	p.E1580K	ENST00000378402	37/78	96	90	6	86			PKHD1L1,missense_variant,p.E1580K,ENST00000378402,NM_177531.4,c.4738G>A,MODERATE,YES,tolerated(0.1),possibly_damaging(0.831),1	A	ENST00000378402	Transcript	missense_variant	missense_variant	4842/13076	4738/12732	1580/4243	E/K	Gaa/Aaa		1		1	PKHD1L1	HGNC	HGNC:20313	protein_coding	YES	CCDS47911.1	ENSP00000367655	Q86WI1		UPI0000E5B020	NM_177531.4	tolerated(0.1)	possibly_damaging(0.831)	37/78		Pfam_domain:PF01833;SMART_domains:SM00429;Superfamily_domains:SSF81296																	MODERATE	1	SNV	1			1											PASS	TAAATGAACTA	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3		COSM3924488	True	Unknown	A	3	1	48	109443849	109443849	G	A	1	0	0	0	0	1	0	0	0	12068	1291	45	3		3	PKHD1L1	8	109443849	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		109443849	35694787	5	698											
TAF1L	138474	BI	GRCh38	chr9	32632232	32632233	+	Frame_Shift_Del	DEL	AA	AA	-													atgttctttcccatttcttcAaagtcactatcttcagctga					novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.3347_3348delTT	p.Phe1116Ter	p.F1116*	ENST00000242310	1/1	108	103	5	83			TAF1L,frameshift_variant,p.F1116*,ENST00000242310,NM_153809.2,c.3347_3348delTT,HIGH,YES,,,-1;RP11-555J4.4,upstream_gene_variant,,ENST00000430787,,,MODIFIER,YES,,,1	-	ENST00000242310	Transcript	frameshift_variant	frameshift_variant	3437-3438/6216	3347-3348/5481	1116/1826	F/X	tTT/t		1		-1	TAF1L	HGNC	HGNC:18056	protein_coding	YES	CCDS35003.1	ENSP00000418379	Q8IZX4		UPI000007408A	NM_153809.2			1/1		PIRSF_domain:PIRSF003047																	HIGH		deletion				1											PASS	TTCTTCAAAGTCA	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	-	7	5	48	32632232	32632232	AA	-	1	0	1	0	1	0	0	0	0	15919	127	5	0		0	TAF1L	9	32632232	Frame_Shift_Del	DEL	AA	TCGA-VD-A8KJ-01A-11D-A39W-08		32632232	105762485	6	699											
STK33	65975	BI	GRCh38	chr11	8413535	8413535	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgtaattggcatcaGggacatttccccagggttgg	13	8	1	1	novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.1304C>G	p.Pro435Arg	p.P435R	ENST00000315204	13/14	144	91	53	237			STK33,missense_variant,p.P435R,ENST00000447869,,c.1304C>G,MODERATE,YES,tolerated_low_confidence(0.53),benign(0),-1;STK33,missense_variant,p.P435R,ENST00000315204,NM_030906.3,c.1304C>G,MODERATE,,tolerated_low_confidence(0.53),benign(0),-1;STK33,missense_variant,p.P435R,ENST00000396672,NM_001289061.1,c.1304C>G,MODERATE,,tolerated_low_confidence(0.53),benign(0),-1;STK33,missense_variant,p.P248R,ENST00000358872,NM_001289059.1,c.743C>G,MODERATE,,tolerated_low_confidence(0.54),benign(0),-1;STK33,missense_variant,p.P394R,ENST00000534493,NM_001289058.1,c.1181C>G,MODERATE,,tolerated_low_confidence(0.53),benign(0),-1;STK33,intron_variant,,ENST00000444064,,c.412-20825C>G,MODIFIER,,,,-1;STK33,non_coding_transcript_exon_variant,,ENST00000473980,,n.442C>G,MODIFIER,,,,-1;STK33,non_coding_transcript_exon_variant,,ENST00000486305,,n.3797C>G,MODIFIER,,,,-1	C	ENST00000315204	Transcript	missense_variant	missense_variant	1827/2707	1304/1545	435/514	P/R	cCt/cGt		1		-1	STK33	HGNC	HGNC:14568	protein_coding		CCDS7789.1	ENSP00000320754	Q9BYT3		UPI000004496E	NM_030906.3	tolerated_low_confidence(0.53)	benign(0)	13/14		Superfamily_domains:SSF56112																	MODERATE		SNV	1			1											panel_of_normals	CATCAGGGACA	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3	gdc_pon		True	Unknown	C	3	2	48	8413535	8413535	G	C	1	0	0	0	0	1	0	0	0	15677	1000	35	5		5	STK33	11	8413535	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		8413535	126673087	7	700											
ERP27	121506	BI	GRCh38	chr12	14934941	14934941	+	Frame_Shift_Del	DEL	G	G	-													tgatcccaaatgacacgcctGggaatttttgcaccatgcta					novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.248delC	p.Pro83GlnfsTer14	p.P83Qfs*14	ENST00000266397	3/7	23	20	3	40			ERP27,frameshift_variant,p.P83Qfs*14,ENST00000266397,NM_152321.2,c.248delC,HIGH,YES,,,-1	-	ENST00000266397	Transcript	frameshift_variant	frameshift_variant	822/2096	248/822	83/273	P/X	cCa/ca		1		-1	ERP27	HGNC	HGNC:26495	protein_coding	YES	CCDS8670.1	ENSP00000266397	Q96DN0		UPI0000037A99	NM_152321.2			3/7		Superfamily_domains:SSF52833																	HIGH	1	deletion	1			1											PASS	ACGCCTGGGAAT	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	-	7	5	48	14934941	14934941	G	-	1	0	1	0	1	0	0	0	0	5099	1348	47	0		0	ERP27	12	14934941	Frame_Shift_Del	DEL	G	TCGA-VD-A8KJ-01A-11D-A39W-08		14934941	118340368	8	701											
MTMR10	54893	BI	GRCh38	chr15	30947291	30947291	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccaagaatagcaaaaAtaaaggagactggcaaatac	9	7	0	2	novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.1387T>G	p.Phe463Val	p.F463V	ENST00000435680	14/16	32	29	3	24			MTMR10,missense_variant,p.F463V,ENST00000435680,NM_017762.2,c.1387T>G,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;MTMR10,missense_variant,p.F381V,ENST00000563714,,c.1141T>G,MODERATE,,deleterious(0),probably_damaging(0.997),-1;MTMR10,missense_variant,p.F228V,ENST00000566981,,c.682T>G,MODERATE,,deleterious(0),probably_damaging(0.996),-1;FAN1,downstream_gene_variant,,ENST00000362065,NM_014967.4,,MODIFIER,YES,,,1;MTMR10,3_prime_UTR_variant,,ENST00000568604,,c.*639T>G,MODIFIER,,,,-1;MTMR10,3_prime_UTR_variant,,ENST00000567567,,c.*980T>G,MODIFIER,,,,-1;MTMR10,3_prime_UTR_variant,,ENST00000568547,,c.*639T>G,MODIFIER,,,,-1;MTMR10,non_coding_transcript_exon_variant,,ENST00000566338,,n.2045T>G,MODIFIER,,,,-1;MTMR10,non_coding_transcript_exon_variant,,ENST00000565728,,n.1386T>G,MODIFIER,,,,-1;FAN1,downstream_gene_variant,,ENST00000565280,,,MODIFIER,,,,1	C	ENST00000435680	Transcript	missense_variant	missense_variant	1485/4961	1387/2334	463/777	F/V	Ttt/Gtt		1		-1	MTMR10	HGNC	HGNC:25999	protein_coding	YES	CCDS45204.1	ENSP00000402537	Q9NXD2	X5D963	UPI00001FE130	NM_017762.2	deleterious(0)	probably_damaging(0.997)	14/16		Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1											PASS	CAAAAATAAAG	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	C	3	2	48	30947291	30947291	A	C	1	0	0	0	0	1	0	0	0	9927	101	4	5		5	MTMR10	15	30947291	Missense_Mutation	SNP	A	TCGA-VD-A8KJ-01A-11D-A39W-08		30947291	71043898	9	702											
UMOD	7369	BI	GRCh38	chr16	20346245	20346245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtacatgaagaccttgtCgaagcccagactcttcagct	9	12	2	3	rs767780614		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.1063G>A	p.Asp355Asn	p.D355N	ENST00000302509	5/11	71	39	32	94			UMOD,missense_variant,p.D355N,ENST00000302509,NM_003361.3&NM_001008389.2,c.1063G>A,MODERATE,,tolerated(0.17),benign(0.006),-1;UMOD,missense_variant,p.D388N,ENST00000396134,NM_001278614.1,c.1162G>A,MODERATE,YES,tolerated(0.19),benign(0.008),-1;UMOD,missense_variant,p.D404N,ENST00000396138,,c.1210G>A,MODERATE,,tolerated(0.17),benign(0.012),-1;UMOD,missense_variant,p.D355N,ENST00000570689,,c.1063G>A,MODERATE,,tolerated(0.17),benign(0.006),-1;UMOD,downstream_gene_variant,,ENST00000574195,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000571174,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000577168,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000570972,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000573567,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000576546,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000570757,,,MODIFIER,,,,-1;UMOD,downstream_gene_variant,,ENST00000576688,,,MODIFIER,,,,-1;UMOD,upstream_gene_variant,,ENST00000570331,,,MODIFIER,,,,-1	T	ENST00000302509	Transcript	missense_variant	missense_variant	1355/2477	1063/1923	355/640	D/N	Gac/Aac	rs767780614	1		-1	UMOD	HGNC	HGNC:12559	protein_coding		CCDS10583.1	ENSP00000306279	P07911		UPI0000137E1A	NM_003361.3;NM_001008389.2	tolerated(0.17)	benign(0.006)	5/11		Pfam_domain:PF00100;PROSITE_profiles:PS51034;SMART_domains:SM00241																	MODERATE		SNV	5			1	8.236e-06	8.242e-06	0	8.639e-05	0	0	0	0	0		PASS	CTTGTCGAAGC	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3		COSM1376368;COSM2129639	True	Unknown	T	3	4	48	20346245	20346245	C	T	1	0	0	0	0	1	0	0	0	17503	884	31	2		2	UMOD	16	20346245	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08		20346245	69992100	10	703											
MBP	4155	BI	GRCh38	chr18	77017213	77017213	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtgcgcttggagtcAgtcaccgctgtgtcctgaga	13	12	2	1	novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.195T>G	p.=	p.T65T	ENST00000355994	4/9	40	26	14	67			MBP,synonymous_variant,p.T65T,ENST00000397860,NM_001025100.1,c.195T>G,LOW,YES,,,-1;MBP,synonymous_variant,p.T65T,ENST00000397863,,c.195T>G,LOW,,,,-1;MBP,synonymous_variant,p.T65T,ENST00000355994,NM_001025101.1,c.195T>G,LOW,,,,-1;MBP,synonymous_variant,p.T65T,ENST00000579129,,c.195T>G,LOW,,,,-1;MBP,synonymous_variant,p.T65T,ENST00000580402,,c.195T>G,LOW,,,,-1;MBP,synonymous_variant,p.T65T,ENST00000581878,,c.195T>G,LOW,,,,-1;MBP,5_prime_UTR_variant,,ENST00000498683,,c.-205T>G,MODIFIER,,,,-1;MBP,5_prime_UTR_variant,,ENST00000354542,,c.-205T>G,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000382582,NM_001025081.1,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397875,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397866,NM_001025090.1,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397865,NM_001025092.1,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000359645,NM_002385.2,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397869,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000528160,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000527041,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000526111,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000578193,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000578873,,,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000487778,,n.679T>G,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000497479,,n.795T>G,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000495162,,n.450T>G,MODIFIER,,,,-1;MBP,non_coding_transcript_exon_variant,,ENST00000490754,,n.388T>G,MODIFIER,,,,-1;MBP,intron_variant,,ENST00000580473,,n.326-27153T>G,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000583266,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000581179,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000585216,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000582282,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000484548,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000467108,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000533278,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000531144,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000493623,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000583474,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000459948,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000483025,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000527975,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000397868,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000482445,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000473302,,,MODIFIER,,,,-1;MBP,upstream_gene_variant,,ENST00000577755,,,MODIFIER,,,,-1	C	ENST00000355994	Transcript	synonymous_variant	synonymous_variant	459/2772	195/915	65/304	T	acT/acG		1		-1	MBP	HGNC	HGNC:6925	protein_coding			ENSP00000348273	P02686	A0A024R384	UPI000012ED3C	NM_001025101.1			4/9																			LOW		SNV	5			1											PASS	GAGTCAGTCAC	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			True	Unknown	C	2	2	48	77017213	77017213	A	C	1	0	0	0	0	0	0	0	1	9292	175	7	5		5	MBP	18	77017213	Silent	SNP	A	TCGA-VD-A8KJ-01A-11D-A39W-08		77017213	3356072	11	704											
NFIC	4782	BI	GRCh38	chr19	3382231	3382231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acctctacctggcctacttcGtgcgtgagcgaggtgaggtg	14	11	1	2	rs201510675	byCluster;byFrequency	TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.550G>C	p.Val184Leu	p.V184L	ENST00000443272	2/11	62	35	27	65			NFIC,missense_variant,p.V175L,ENST00000589123,NM_205843.2,c.523G>C,MODERATE,,tolerated(0.2),benign(0.108),1;NFIC,missense_variant,p.V175L,ENST00000395111,NM_001245005.1,c.523G>C,MODERATE,,tolerated(0.24),benign(0.251),1;NFIC,missense_variant,p.V184L,ENST00000443272,NM_001245002.1,c.550G>C,MODERATE,YES,tolerated(0.2),benign(0.024),1;NFIC,missense_variant,p.V184L,ENST00000341919,NM_005597.3,c.550G>C,MODERATE,,tolerated(0.24),benign(0.256),1;NFIC,missense_variant,p.V184L,ENST00000590282,NM_001245004.1,c.550G>C,MODERATE,,tolerated(0.24),benign(0.221),1;NFIC,missense_variant,p.V175L,ENST00000586919,,c.523G>C,MODERATE,,tolerated(0.1),benign(0.221),1	C	ENST00000443272	Transcript	missense_variant	missense_variant	601/1716	550/1527	184/508	V/L	Gtg/Ctg	rs201510675	1		1	NFIC	HGNC	HGNC:7786	protein_coding	YES	CCDS59330.1	ENSP00000396843	P08651		UPI000012FFC8	NM_001245002.1	tolerated(0.2)	benign(0.024)	2/11		PROSITE_profiles:PS51080								0	4e-04								MODERATE	1	SNV	2			1	0.0002065	0.0002128	0	0	0	0.000153	0.000358	0.001121	0		panel_of_normals	ACTTCGTGCGT	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3	common_in_exac;gdc_pon		True	Unknown	C	3	2	48	3382231	3382231	G	C	1	0	0	0	0	1	0	0	0	10409	1145	40	5		5	NFIC	19	3382231	Missense_Mutation	SNP	G	TCGA-VD-A8KJ-01A-11D-A39W-08		3382231	55235385	12	705											
RGL3	57139	BI	GRCh38	chr19	11406785	11406786	+	Frame_Shift_Ins	INS	-	-	GGGGACC													agtccaggagctggggacctINStgaggcatgagcccttcctc					novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.716_717insGGTCCCC	p.Gly240ValfsTer116	p.G240Vfs*116	ENST00000380456	6/19	43	26	17	50			RGL3,frameshift_variant,p.G240Vfs*116,ENST00000380456,NM_001035223.2,c.716_717insGGTCCCC,HIGH,,,,-1;RGL3,frameshift_variant,p.G240Vfs*116,ENST00000393423,NM_001161616.1,c.716_717insGGTCCCC,HIGH,YES,,,-1;Y_RNA,upstream_gene_variant,,ENST00000365487,,,MODIFIER,YES,,,1;RGL3,frameshift_variant,p.K235Rfs*465,ENST00000562663,,c.701_702insGGTCCCC,HIGH,,,,-1;RGL3,3_prime_UTR_variant,,ENST00000563726,,c.*357_*358insGGTCCCC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,,n.97_98insGGTCCCC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000453604,,n.507_508insGGTCCCC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000569439,,n.923_924insGGTCCCC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000565895,,n.158_159insGGTCCCC,MODIFIER,,,,-1;RGL3,downstream_gene_variant,,ENST00000561687,,,MODIFIER,,,,-1;RGL3,upstream_gene_variant,,ENST00000589032,,,MODIFIER,,,,-1	GGGGACC	ENST00000380456	Transcript	frameshift_variant	frameshift_variant	780-781/2542	716-717/2133	239/710	Q/QVPX	caa/caGGTCCCCa		1		-1	RGL3	HGNC	HGNC:30282	protein_coding		CCDS32910.1	ENSP00000369823		A0A0A0MRX4	UPI000004E898	NM_001035223.2			6/19		Superfamily_domains:SSF48366																	HIGH		insertion	1			1											PASS	GGACCTTGAGG	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	GGGGACC	7	5	48	11406785	11406785	-	GGGGACC	1	0	1	1	0	0	0	0	0	13451	1606	56	0		0	RGL3	19	11406785	Frame_Shift_Ins	INS	-	TCGA-VD-A8KJ-01A-11D-A39W-08	8024554	11406785	47210831	13	706	10	2									
RGL3	57139	BI	GRCh38	chr19	11406786	11406787	+	Frame_Shift_Ins	INS	-	-	G													gtccaggagctggggaccttINSgaggcatgagcccttcctct					novel		TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.715dupC	p.Gln239ProfsTer115	p.Q239Pfs*115	ENST00000380456	6/19	45	27	18	50			RGL3,frameshift_variant,p.Q239Pfs*115,ENST00000380456,NM_001035223.2,c.715dupC,HIGH,,,,-1;RGL3,frameshift_variant,p.Q239Pfs*115,ENST00000393423,NM_001161616.1,c.715dupC,HIGH,YES,,,-1;Y_RNA,upstream_gene_variant,,ENST00000365487,,,MODIFIER,YES,,,1;RGL3,frameshift_variant,p.K235Qfs*463,ENST00000562663,,c.700dupC,HIGH,,,,-1;RGL3,3_prime_UTR_variant,,ENST00000563726,,c.*356dupC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000566153,,n.96dupC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000453604,,n.506dupC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000569439,,n.922dupC,MODIFIER,,,,-1;RGL3,non_coding_transcript_exon_variant,,ENST00000565895,,n.157dupC,MODIFIER,,,,-1;RGL3,downstream_gene_variant,,ENST00000561687,,,MODIFIER,,,,-1;RGL3,upstream_gene_variant,,ENST00000589032,,,MODIFIER,,,,-1	G	ENST00000380456	Transcript	frameshift_variant	frameshift_variant	779-780/2542	715-716/2133	239/710	Q/PX	caa/cCaa		1		-1	RGL3	HGNC	HGNC:30282	protein_coding		CCDS32910.1	ENSP00000369823		A0A0A0MRX4	UPI000004E898	NM_001035223.2			6/19		Superfamily_domains:SSF48366																	HIGH		insertion	1			1											PASS	GACCTTGAGGC	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3			False	Unknown	G	7	5	48	11406786	11406786	-	G	1	0	1	1	0	0	0	0	0	13451	1812	63	0		0	RGL3	19	11406786	Frame_Shift_Ins	INS	-	TCGA-VD-A8KJ-01A-11D-A39W-08	1	11406786	47210830	14	707	10	2									
PRR19	284338	BI	GRCh38	chr19	42309939	42309939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccaggaaccagccccaCggtccagggacaaagagaac	13	14	0	1	rs139508954	byCluster;byFrequency	TCGA-VD-A8KJ-01A-11D-A39W-08	TCGA-VD-A8KJ-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	15c021da-3f38-4fa4-9184-ffce52fd71ba	24d291a9-1886-47da-99f3-124a94a9671e	c.355C>T	p.Arg119Trp	p.R119W	ENST00000341747	2/3	34	18	16	48			PRR19,missense_variant,p.R119W,ENST00000499536,,c.355C>T,MODERATE,YES,deleterious(0.01),benign(0.023),1;PRR19,missense_variant,p.R119W,ENST00000598490,,c.355C>T,MODERATE,,deleterious_low_confidence(0.01),benign(0.055),1;PRR19,missense_variant,p.R119W,ENST00000341747,NM_199285.2,c.355C>T,MODERATE,,deleterious(0.01),benign(0.023),1;PRR19,missense_variant,p.R119W,ENST00000595750,,c.355C>T,MODERATE,,deleterious(0.01),benign(0.023),1;TMEM145,upstream_gene_variant,,ENST00000598766,,,MODIFIER,,,,1;TMEM145,upstream_gene_variant,,ENST00000301204,NM_173633.2,,MODIFIER,YES,,,1;TMEM145,upstream_gene_variant,,ENST00000601020,,,MODIFIER,,,,1;TMEM145,upstream_gene_variant,,ENST00000595775,,,MODIFIER,,,,1	T	ENST00000341747	Transcript	missense_variant	missense_variant	733/1530	355/1071	119/356	R/W	Cgg/Tgg	rs139508954	1		1	PRR19	HGNC	HGNC:33728	protein_coding		CCDS33036.1	ENSP00000342709	A6NJB7		UPI000016101F	NM_199285.2	deleterious(0.01)	benign(0.023)	2/3										5e-04	0								MODERATE		SNV	5			1	3.295e-05	3.345e-05	0.0001981	0	0.000117	0	0	0	6.098e-05		PASS	CCCCACGGTCC	8a67f707-b75c-4ca6-9a3a-0e7c640827a0	5c45b2be-7fdd-4665-9371-cda9cb99977e	8f709e90-1198-4112-9fbc-550d1dbfcb18	7289bc25-2551-4c6d-b2fa-c7e13859b9b3		COSM5564251	True	Unknown	T	3	4	48	42309939	42309939	C	T	1	0	0	0	0	1	0	0	0	12727	527	19	1		1	PRR19	19	42309939	Missense_Mutation	SNP	C	TCGA-VD-A8KJ-01A-11D-A39W-08	30903153	42309939	16307677	15	708											
FCRL1	115350	BI	GRCh38	chr1	157801944	157801944	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgtcaccgcctcactgCgctgggcccccaggccattg	12	16	2	1	rs551893022	by1000G	TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.857G>A	p.Arg286His	p.R286H	ENST00000368176	5/11	102	60	42	68			FCRL1,missense_variant,p.R286H,ENST00000358292,NM_001159397.1,c.857G>A,MODERATE,,tolerated(0.49),benign(0.104),-1;FCRL1,missense_variant,p.R286H,ENST00000368176,NM_052938.4,c.857G>A,MODERATE,YES,tolerated(0.45),benign(0.021),-1;FCRL1,missense_variant,p.R286H,ENST00000491942,NM_001159398.1,c.857G>A,MODERATE,,tolerated(0.45),benign(0.032),-1;FCRL1,non_coding_transcript_exon_variant,,ENST00000489998,,n.1078G>A,MODIFIER,,,,-1;FCRL1,non_coding_transcript_exon_variant,,ENST00000368175,,n.623G>A,MODIFIER,,,,-1;FCRL1,non_coding_transcript_exon_variant,,ENST00000463001,,n.24G>A,MODIFIER,,,,-1;FCRL1,upstream_gene_variant,,ENST00000495126,,,MODIFIER,,,,-1;FCRL1,downstream_gene_variant,,ENST00000480310,,,MODIFIER,,,,-1	T	ENST00000368176	Transcript	missense_variant	missense_variant	925/2596	857/1290	286/429	R/H	cGc/cAc	rs551893022	1		-1	FCRL1	HGNC	HGNC:18509	protein_coding	YES	CCDS1170.1	ENSP00000357158	Q96LA6		UPI000006E5BD	NM_052938.4	tolerated(0.45)	benign(0.021)	5/11		PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1	1.647e-05	1.664e-05	9.714e-05	0	0	0	1.507e-05	0	0		PASS	CACTGCGCTGG	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	T	3	4	49	157801944	157801944	C	T	1	0	0	0	0	1	0	0	0	5657	768	27	2		2	FCRL1	1	157801944	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		157801944	91154478	1	709											
BAP1	8314	BI	GRCh38	chr3	52407962	52407962	+	Frame_Shift_Del	DEL	G	G	-													aggcactgcagcctacctcaGggctgaaacccttggtgaag					novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.371delC	p.Pro124LeufsTer63	p.P124Lfs*63	ENST00000460680	5/17	20	3	17	27			BAP1,frameshift_variant,p.P124Lfs*63,ENST00000460680,NM_004656.3,c.371delC,HIGH,YES,,,-1;BAP1,frameshift_variant,p.P124Lfs*63,ENST00000296288,,c.371delC,HIGH,,,,-1;BAP1,frameshift_variant,p.P45Lfs*63,ENST00000470173,,c.134delC,HIGH,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,3_prime_UTR_variant,,ENST00000490917,,c.*112delC,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,,n.86delC,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.371delC,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	843/3937	371/2190	124/729	P/X	cCt/ct		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			5/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	HIGH	1	deletion	1			1											PASS	ACCTCAGGGCTG	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	-	7	5	49	52407962	52407962	G	-	1	0	1	0	1	0	0	0	0	1463	1014	35	0		0	BAP1	3	52407962	Frame_Shift_Del	DEL	G	TCGA-VD-A8KK-01A-11D-A39W-08		52407962	145887597	2	710											
CENPE	1062	BI	GRCh38	chr4	103153171	103153171	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctttgttgctcaattAtctcattatccttaacatct	2	11	4	0	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.3113T>C	p.Ile1038Thr	p.I1038T	ENST00000265148	25/49	16	8	8	32			CENPE,missense_variant,p.I1038T,ENST00000265148,NM_001813.2,c.3113T>C,MODERATE,YES,,benign(0.035),-1;CENPE,missense_variant,p.I1038T,ENST00000611174,,c.3113T>C,MODERATE,,,benign(0.076),-1;CENPE,missense_variant,p.I1013T,ENST00000380026,NM_001286734.1,c.3038T>C,MODERATE,,,benign(0.029),-1;CENPE,missense_variant,p.I1038T,ENST00000503705,,c.3113T>C,MODERATE,,tolerated(0.06),benign(0.035),-1	G	ENST00000265148	Transcript	missense_variant	missense_variant	3203/8612	3113/8106	1038/2701	I/T	aTa/aCa		1		-1	CENPE	HGNC	HGNC:1856	protein_coding	YES	CCDS34042.1	ENSP00000265148	Q02224		UPI000020B28A	NM_001813.2		benign(0.035)	25/49		PROSITE_profiles:PS50313																	MODERATE	1	SNV	2			1											PASS	CAATTATCTCA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	G	3	3	49	103153171	103153171	A	G	1	0	0	0	0	1	0	0	0	2938	449	16	4		4	CENPE	4	103153171	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		103153171	87061384	3	711											
PDE4D	5144	BI	GRCh38	chr5	58993398	58993398	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atgtgtttgatataaactctGacacttgatttccagaccga	7	8	1	4	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.989C>G	p.Ser330Ter	p.S330*	ENST00000340635	7/15	58	34	24	41			PDE4D,stop_gained,p.S330*,ENST00000340635,NM_001104631.1,c.989C>G,HIGH,YES,,,-1;PDE4D,stop_gained,p.S199*,ENST00000546160,,c.596C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S266*,ENST00000507116,NM_001197218.1,c.797C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S194*,ENST00000360047,NM_006203.4,c.581C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S28*,ENST00000358923,NM_001197222.1&NM_001197221.1,c.83C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S200*,ENST00000503258,NM_001197220.1,c.599C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S39*,ENST00000317118,NM_001197223.1,c.116C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S269*,ENST00000502484,NM_001165899.1,c.806C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S208*,ENST00000405755,NM_001197219.1,c.623C>G,HIGH,,,,-1;PDE4D,stop_gained,p.S28*,ENST00000505453,,c.83C>G,HIGH,,,,-1;PDE4D,downstream_gene_variant,,ENST00000405053,,,MODIFIER,,,,-1;PDE4D,3_prime_UTR_variant,,ENST00000309641,,c.*193C>G,MODIFIER,,,,-1;PDE4D,non_coding_transcript_exon_variant,,ENST00000515011,,n.725C>G,MODIFIER,,,,-1	C	ENST00000340635	Transcript	stop_gained	stop_gained	1165/8232	989/2430	330/809	S/*	tCa/tGa		1		-1	PDE4D	HGNC	HGNC:8783	protein_coding	YES	CCDS47213.1	ENSP00000345502	Q08499		UPI0000050EB1	NM_001104631.1			7/15																			HIGH	1	SNV	1			1											PASS	ACTCTGACACT	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	C	4	2	49	58993398	58993398	G	C	1	0	0	0	0	0	1	0	0	11730	1294	45	5		5	PDE4D	5	58993398	Nonsense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		58993398	122544861	4	712											
DCANP1	140947	BI	GRCh38	chr5	135446689	135446689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactgtgtgaactgtgaaCgggtagagtctgaaactaca	13	6	1	5	rs372976487	by1000G;byCluster;byFrequency	TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.420G>A	p.=	p.P140P	ENST00000503143	1/1	164	97	67	101			DCANP1,synonymous_variant,p.P140P,ENST00000503143,NM_130848.2,c.420G>A,LOW,YES,,,-1;TIFAB,3_prime_UTR_variant,,ENST00000537858,NM_001099221.1,c.*2765G>A,MODIFIER,YES,,,-1;CTB-138E5.1,upstream_gene_variant,,ENST00000510230,,,MODIFIER,YES,,,1	T	ENST00000503143	Transcript	synonymous_variant	synonymous_variant	660/3135	420/735	140/244	P	ccG/ccA	rs372976487	1		-1	DCANP1	HGNC	HGNC:24459	protein_coding	YES	CCDS4186.1	ENSP00000421871	Q8TF63			NM_130848.2			1/1				0	0		0	0	0.002	0	1e-04								LOW		SNV				1	0.0001565	0.0001565	0	8.637e-05	0.0001156	0.0003024	5.994e-05	0	0.0006672		panel_of_normals	GTGAACGGGTA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628	common_in_exac;gdc_pon	COSM1060999	True	Unknown	T	2	4	49	135446689	135446689	C	T	1	0	0	0	0	0	0	0	1	4081	523	19	1		1	DCANP1	5	135446689	Silent	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08	76453291	135446689	46091570	5	713											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	141	94	47	82			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628		COSM28758	True	Unknown	G	3	3	49	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		77794572	60600145	6	714											
OVCH1	341350	BI	GRCh38	chr12	29444152	29444152	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgacttccttaccccatagTagttctgtgagaatttcttg	7	9	2	2	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.3010A>G	p.Thr1004Ala	p.T1004A	ENST00000318184	24/28	207	104	103	118			OVCH1,missense_variant,p.T1004A,ENST00000318184,NM_183378.2,c.3010A>G,MODERATE,YES,tolerated(0.27),benign(0.057),-1;OVCH1,missense_variant,p.T29A,ENST00000537054,,c.85A>G,MODERATE,,tolerated(0.34),benign(0.186),-1;OVCH1-AS1,intron_variant,,ENST00000551108,,n.561-42734T>C,MODIFIER,YES,,,1;OVCH1-AS1,intron_variant,,ENST00000549411,,n.140+18088T>C,MODIFIER,,,,1;OVCH1-AS1,intron_variant,,ENST00000550906,,n.117-17582T>C,MODIFIER,,,,1;OVCH1,missense_variant,p.T40A,ENST00000539117,,c.117A>G,MODERATE,,tolerated(0.23),benign(0.389),-1	C	ENST00000318184	Transcript	missense_variant	missense_variant	3010/3405	3010/3405	1004/1134	T/A	Act/Gct		1		-1	OVCH1	HGNC	HGNC:23080	protein_coding	YES		ENSP00000326708	Q7RTY7		UPI000040640A	NM_183378.2	tolerated(0.27)	benign(0.057)	24/28		Superfamily_domains:SSF49854																	MODERATE	1	SNV	2			1											PASS	CATAGTAGTTC	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	C	3	2	49	29444152	29444152	T	C	1	0	0	0	0	1	0	0	0	11393	1638	57	4		4	OVCH1	12	29444152	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		29444152	103831157	7	715											
IRAK3	11213	BI	GRCh38	chr12	66244946	66244946	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actttctatatattccttgtAggtaataatggaagttctaa	6	5	2	0	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.1087-2A>G		p.X363_splice	ENST00000261233		81	42	39	39			IRAK3,splice_acceptor_variant,p.X363_splice,ENST00000261233,NM_007199.2,c.1087-2A>G,HIGH,YES,,,1;IRAK3,splice_acceptor_variant,p.X302_splice,ENST00000457197,NM_001142523.1,c.904-2A>G,HIGH,,,,1	G	ENST00000261233	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/8663	1087/1791	363/596				1		1	IRAK3	HGNC	HGNC:17020	protein_coding	YES	CCDS8975.1	ENSP00000261233	Q9Y616		UPI000013D14A	NM_007199.2				9/11																		HIGH	1	SNV	1			1											PASS	CTTGTAGGTAA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628	NonExonic		True	Unknown	G	5	3	49	66244946	66244946	A	G	1	0	0	0	0	0	0	1	0	7730	434	15	4		4	IRAK3	12	66244946	Splice_Site	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	36800794	66244946	67030363	8	716											
CAND1	55832	BI	GRCh38	chr12	67311771	67311771	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agaggttggaccgacttgttGagccattacgtgcaacatgt	12	8	0	2	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.3439G>A	p.Glu1147Lys	p.E1147K	ENST00000545606	14/15	136	73	63	74			CAND1,missense_variant,p.E1147K,ENST00000545606,NM_018448.3,c.3439G>A,MODERATE,YES,deleterious(0),probably_damaging(0.971),1;CAND1,missense_variant,p.E687K,ENST00000544619,,c.2059G>A,MODERATE,,deleterious(0),probably_damaging(0.985),1;CAND1,downstream_gene_variant,,ENST00000540319,,,MODIFIER,,,,1	A	ENST00000545606	Transcript	missense_variant	missense_variant	3876/11251	3439/3693	1147/1230	E/K	Gag/Aag		1		1	CAND1	HGNC	HGNC:30688	protein_coding	YES	CCDS8977.1	ENSP00000442318	Q86VP6		UPI0000037CC5	NM_018448.3	deleterious(0)	probably_damaging(0.971)	14/15		Pfam_domain:PF08623;Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TTGTTGAGCCA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	A	3	1	49	67311771	67311771	G	A	1	0	0	0	0	1	0	0	0	2308	1291	45	3		3	CAND1	12	67311771	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	1066825	67311771	65963538	9	717											
PPFIA2	8499	BI	GRCh38	chr12	81754049	81754049	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtctttgctgggcaAgtgagaggctttcctgggtc	14	9	1	2	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.173T>C	p.Leu58Pro	p.L58P	ENST00000549396	3/33	35	32	3	18			PPFIA2,missense_variant,p.L58P,ENST00000550584,NM_001220473.2,c.173T>C,MODERATE,,tolerated(0.25),possibly_damaging(0.616),-1;PPFIA2,missense_variant,p.L58P,ENST00000549396,NM_003625.4,c.173T>C,MODERATE,YES,tolerated(0.23),possibly_damaging(0.713),-1;PPFIA2,missense_variant,p.L58P,ENST00000549325,NM_001220474.2,c.173T>C,MODERATE,,tolerated(0.25),benign(0.162),-1;PPFIA2,missense_variant,p.L58P,ENST00000548586,NM_001220476.2,c.173T>C,MODERATE,,tolerated(0.23),possibly_damaging(0.771),-1;PPFIA2,missense_variant,p.L58P,ENST00000552948,NM_001220475.2,c.173T>C,MODERATE,,tolerated(0.24),benign(0.439),-1;PPFIA2,missense_variant,p.L58P,ENST00000551442,,c.173T>C,MODERATE,,tolerated(0.25),benign(0.162),-1;PPFIA2,missense_variant,p.L58P,ENST00000547623,,c.173T>C,MODERATE,,tolerated(0.24),possibly_damaging(0.771),-1;PPFIA2,non_coding_transcript_exon_variant,,ENST00000550798,,n.318T>C,MODIFIER,,,,-1	G	ENST00000549396	Transcript	missense_variant	missense_variant	334/5363	173/3774	58/1257	L/P	cTt/cCt		1		-1	PPFIA2	HGNC	HGNC:9246	protein_coding	YES	CCDS55857.1	ENSP00000450337	O75334		UPI0000168655	NM_003625.4	tolerated(0.23)	possibly_damaging(0.713)	3/33		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	GGGCAAGTGAG	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			False	Unknown	G	3	3	49	81754049	81754049	A	G	1	0	0	0	0	1	0	0	0	12419	72	3	4		4	PPFIA2	12	81754049	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	14442278	81754049	51521260	10	718											
FUS	2521	BI	GRCh38	chr16	31182623	31182623	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtccacggacacttcaggctAtggccagagcagctattctt	10	12	2	1	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.149A>G	p.Tyr50Cys	p.Y50C	ENST00000254108	3/15	133	61	72	89			FUS,missense_variant,p.Y50C,ENST00000254108,NM_004960.3&NM_001170937.1,c.149A>G,MODERATE,YES,deleterious(0),unknown(0),1;FUS,missense_variant,p.Y50C,ENST00000380244,NM_001170634.1,c.149A>G,MODERATE,,deleterious(0),unknown(0),1;FUS,missense_variant,p.Y50C,ENST00000568685,,c.149A>G,MODERATE,,deleterious(0),unknown(0),1;RP11-388M20.6,non_coding_transcript_exon_variant,,ENST00000564743,,n.351T>C,MODIFIER,YES,,,-1;FUS,upstream_gene_variant,,ENST00000474990,,,MODIFIER,,,,1;FUS,missense_variant,p.Y50C,ENST00000566605,,c.149A>G,MODERATE,,deleterious_low_confidence(0),unknown(0),1;FUS,non_coding_transcript_exon_variant,,ENST00000487509,,n.214A>G,MODIFIER,,,,1;FUS,non_coding_transcript_exon_variant,,ENST00000487045,,n.225A>G,MODIFIER,,,,1;FUS,upstream_gene_variant,,ENST00000487974,,,MODIFIER,,,,1;FUS,upstream_gene_variant,,ENST00000570090,,,MODIFIER,,,,1	G	ENST00000254108	Transcript	missense_variant	missense_variant	254/5119	149/1581	50/526	Y/C	tAt/tGt		1		1	FUS	HGNC	HGNC:4010	protein_coding	YES	CCDS10707.1	ENSP00000254108	P35637	Q6IBQ5	UPI000012AD9A	NM_004960.3;NM_001170937.1	deleterious(0)	unknown(0)	3/15		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50322;PROSITE_profiles:PS50315;PROSITE_profiles:PS50324																	MODERATE	1	SNV	1			1											PASS	AGGCTATGGCC	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	G	3	3	49	31182623	31182623	A	G	1	0	0	0	0	1	0	0	0	5972	449	16	4		4	FUS	16	31182623	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08		31182623	59155722	11	719											
TSPOAP1	9256	BI	GRCh38	chr17	58318428	58318428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttggggtgcagcgcccaGgggagcccggcgggaggtca	19	11	1	0	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.1724C>T	p.Pro575Leu	p.P575L	ENST00000343736	14/32	27	24	3	17			BZRAP1,missense_variant,p.P515L,ENST00000268893,NM_024418.2,c.1544C>T,MODERATE,,deleterious(0.02),probably_damaging(0.994),-1;BZRAP1,missense_variant,p.P575L,ENST00000343736,NM_004758.3&NM_001261835.1,c.1724C>T,MODERATE,YES,deleterious(0.02),benign(0.074),-1;BZRAP1,downstream_gene_variant,,ENST00000583624,,,MODIFIER,,,,-1	A	ENST00000343736	Transcript	missense_variant	missense_variant	1888/5947	1724/5574	575/1857	P/L	cCt/cTt		1		-1	BZRAP1	HGNC	HGNC:16831	protein_coding	YES	CCDS11605.1	ENSP00000345824	O95153		UPI000013D7E3	NM_004758.3;NM_001261835.1	deleterious(0.02)	benign(0.074)	14/32																			MODERATE	1	SNV	1			1											PASS	GCCCAGGGGAG	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			False	Unknown	A	3	1	49	58318428	58318428	G	A	1	0	0	0	0	1	0	0	0	17163	1000	35	3		3	TSPOAP1	17	58318428	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08		58318428	24939013	12	720											
OR7D4	125958	BI	GRCh38	chr19	9214522	9214522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatccattccagcaaacaTcattaaaaaatacacctgag	4	10	1	1	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.316A>G	p.Met106Val	p.M106V	ENST00000308682	1/1	77	45	32	65			OR7D4,missense_variant,p.M106V,ENST00000308682,NM_001005191.2,c.316A>G,MODERATE,YES,tolerated(0.36),benign(0),-1	C	ENST00000308682	Transcript	missense_variant	missense_variant	350/1022	316/939	106/312	M/V	Atg/Gtg		1		-1	OR7D4	HGNC	HGNC:8380	protein_coding	YES	CCDS32901.1	ENSP00000310488	Q8NG98			NM_001005191.2	tolerated(0.36)	benign(0)	1/1		Pfam_domain:PF00001;Pfam_domain:PF10320;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	AAACATCATTA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	C	3	2	49	9214522	9214522	T	C	1	0	0	0	0	1	0	0	0	11290	1435	50	4		4	OR7D4	19	9214522	Missense_Mutation	SNP	T	TCGA-VD-A8KK-01A-11D-A39W-08		9214522	49403094	13	721											
ZNF527	84503	BI	GRCh38	chr19	37389745	37389745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaggcttttcatcagAtcttgtccctaagactacac	9	10	3	2	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.1696A>G	p.Ile566Val	p.I566V	ENST00000436120	5/5	79	43	36	79			ZNF527,missense_variant,p.I566V,ENST00000436120,NM_032453.1,c.1696A>G,MODERATE,YES,tolerated(0.52),benign(0.002),1;ZNF527,intron_variant,,ENST00000587349,,c.*5-2670A>G,MODIFIER,,,,1;ZNF527,downstream_gene_variant,,ENST00000483919,,,MODIFIER,,,,1;ZNF527,downstream_gene_variant,,ENST00000588911,,,MODIFIER,,,,1;ZNF527,3_prime_UTR_variant,,ENST00000356178,,c.*1640A>G,MODIFIER,,,,1;ZNF527,downstream_gene_variant,,ENST00000588512,,,MODIFIER,,,,1	G	ENST00000436120	Transcript	missense_variant	missense_variant	1803/2828	1696/1830	566/609	I/V	Atc/Gtc		1		1	ZNF527	HGNC	HGNC:29385	protein_coding	YES	CCDS42559.1	ENSP00000390179	Q8NB42		UPI00002021F5	NM_032453.1	tolerated(0.52)	benign(0.002)	5/5		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	4			1											PASS	ATCAGATCTTG	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	G	3	3	49	37389745	37389745	A	G	1	0	0	0	0	1	0	0	0	18541	333	12	4		4	ZNF527	19	37389745	Missense_Mutation	SNP	A	TCGA-VD-A8KK-01A-11D-A39W-08	28175223	37389745	21227871	14	722											
NUP62	23636	BI	GRCh38	chr19	49909169	49909169	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcccagtgctggtgatGgtggctgtgggtgtgggagc	21	7	0	1	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.639C>G	p.=	p.T213T	ENST00000352066	3/3	111	56	55	57			NUP62,synonymous_variant,p.T213T,ENST00000596217,,c.639C>G,LOW,YES,,,-1;NUP62,synonymous_variant,p.T213T,ENST00000422090,NM_153718.3&NM_012346.4&NM_001193357.1,c.639C>G,LOW,,,,-1;NUP62,synonymous_variant,p.T213T,ENST00000352066,NM_016553.4,c.639C>G,LOW,,,,-1;NUP62,synonymous_variant,p.T213T,ENST00000597029,NM_153719.3,c.639C>G,LOW,,,,-1;NUP62,synonymous_variant,p.T213T,ENST00000597723,,c.639C>G,LOW,,,,-1;IL4I1,intron_variant,,ENST00000595948,NM_001258018.1,c.-285-4848C>G,MODIFIER,YES,,,-1;IL4I1,intron_variant,,ENST00000341114,NM_172374.2&NM_001258017.1,c.-227-4848C>G,MODIFIER,,,,-1;NUP62,intron_variant,,ENST00000413454,,c.572+67C>G,MODIFIER,,,,-1;IL4I1,intron_variant,,ENST00000596022,,c.-227-4848C>G,MODIFIER,,,,-1;IL4I1,intron_variant,,ENST00000596011,,c.-328-4848C>G,MODIFIER,,,,-1;IL4I1,intron_variant,,ENST00000597295,,c.-145-4848C>G,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000593652,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000596437,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000600935,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000599567,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000600645,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000599788,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000594673,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000595761,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000596680,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000600583,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000595373,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000599830,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000598301,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000595463,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000599560,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000601665,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000597814,,,MODIFIER,,,,-1;NUP62,downstream_gene_variant,,ENST00000599186,,,MODIFIER,,,,-1;IL4I1,intron_variant,,ENST00000601717,,c.-227-4848C>G,MODIFIER,,,,-1;CTC-326K19.6,downstream_gene_variant,,ENST00000451973,,,MODIFIER,YES,,,-1	C	ENST00000352066	Transcript	synonymous_variant	synonymous_variant	1244/2870	639/1569	213/522	T	acC/acG		1		-1	NUP62	HGNC	HGNC:8066	protein_coding		CCDS12788.1	ENSP00000305503	P37198	A0A024QZF1		NM_016553.4			3/3		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50310;PROSITE_profiles:PS50325																	LOW		SNV	1			1											PASS	GTGATGGTGGC	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	C	2	2	49	49909169	49909169	G	C	1	0	0	0	0	0	0	0	1	10834	1335	47	5		5	NUP62	19	49909169	Silent	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	12519424	49909169	8708447	15	723											
VPREB3	29802	BI	GRCh38	chr22	23752959	23752959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaatggtgaggacacaggCattgtgggcctcatccttgg	13	9	1	1	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.289G>A	p.Ala97Thr	p.A97T	ENST00000248948	2/2	54	28	26	28			VPREB3,missense_variant,p.A97T,ENST00000248948,NM_013378.2,c.289G>A,MODERATE,YES,tolerated(0.13),benign(0.05),-1;VPREB3,missense_variant,p.A81T,ENST00000398465,,c.241G>A,MODERATE,,tolerated(0.1),benign(0.054),-1;ZNF70,upstream_gene_variant,,ENST00000341976,NM_021916.2,,MODIFIER,YES,,,-1	T	ENST00000248948	Transcript	missense_variant	missense_variant	394/610	289/372	97/123	A/T	Gcc/Acc		1		-1	VPREB3	HGNC	HGNC:12710	protein_coding	YES	CCDS13813.1	ENSP00000248948	Q9UKI3		UPI0000049DEB	NM_013378.2	tolerated(0.13)	benign(0.05)	2/2		Pfam_domain:PF07686;Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00406;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	ACAGGCATTGT	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			True	Unknown	T	3	4	49	23752959	23752959	C	T	1	0	0	0	0	1	0	0	0	17734	710	25	3		3	VPREB3	22	23752959	Missense_Mutation	SNP	C	TCGA-VD-A8KK-01A-11D-A39W-08		23752959	27065509	16	724											
TOM1	10043	BI	GRCh38	chr22	35323129	35323129	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgaggaccatcctgcccaaGaacaacccacccaccatcgt	7	17	0	2	novel		TCGA-VD-A8KK-01A-11D-A39W-08	TCGA-VD-A8KK-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	566314af-7a19-4496-8b4b-c41f57d6f106	a9ff531e-0829-40a1-af9d-c23153b5e799	c.318G>C	p.Lys106Asn	p.K106N	ENST00000449058	4/15	43	40	3	29			TOM1,missense_variant,p.K106N,ENST00000411850,NM_001135732.1,c.318G>C,MODERATE,YES,tolerated(0.05),possibly_damaging(0.8),1;TOM1,missense_variant,p.K106N,ENST00000449058,NM_005488.2,c.318G>C,MODERATE,,tolerated(0.05),possibly_damaging(0.798),1;TOM1,missense_variant,p.K73N,ENST00000447733,NM_001135729.1,c.219G>C,MODERATE,,tolerated(0.05),possibly_damaging(0.8),1;TOM1,missense_variant,p.K106N,ENST00000425375,NM_001135730.1,c.318G>C,MODERATE,,deleterious(0.03),possibly_damaging(0.8),1;TOM1,missense_variant,p.K106N,ENST00000382034,,c.318G>C,MODERATE,,deleterious(0.03),benign(0.442),1;TOM1,missense_variant,p.K100N,ENST00000456128,,c.300G>C,MODERATE,,,,1;TOM1,missense_variant,p.K73N,ENST00000443206,,c.219G>C,MODERATE,,deleterious(0.03),possibly_damaging(0.798),1;TOM1,missense_variant,p.K73N,ENST00000608749,,c.219G>C,MODERATE,,deleterious(0.03),possibly_damaging(0.798),1;TOM1,missense_variant,p.K73N,ENST00000608674,,c.219G>C,MODERATE,,deleterious(0.03),possibly_damaging(0.798),1;TOM1,missense_variant,p.E90Q,ENST00000449508,,c.268G>C,MODERATE,,deleterious_low_confidence(0.01),possibly_damaging(0.617),1;TOM1,missense_variant,p.K106N,ENST00000395736,,c.318G>C,MODERATE,,deleterious(0.03),benign(0.237),1;TOM1,3_prime_UTR_variant,,ENST00000404284,,c.*214G>C,MODIFIER,,,,1;TOM1,3_prime_UTR_variant,,ENST00000424387,,c.*155G>C,MODIFIER,,,,1;TOM1,3_prime_UTR_variant,,ENST00000439512,,c.*95G>C,MODIFIER,,,,1;TOM1,upstream_gene_variant,,ENST00000491987,,,MODIFIER,,,,1;TOM1,downstream_gene_variant,,ENST00000487670,,,MODIFIER,,,,1;TOM1,downstream_gene_variant,,ENST00000465529,,,MODIFIER,,,,1;TOM1,upstream_gene_variant,,ENST00000497448,,,MODIFIER,,,,1	C	ENST00000449058	Transcript	missense_variant	missense_variant	443/2389	318/1479	106/492	K/N	aaG/aaC		1		1	TOM1	HGNC	HGNC:11982	protein_coding		CCDS13913.1	ENSP00000394466	O60784		UPI0000137118	NM_005488.2	tolerated(0.05)	possibly_damaging(0.798)	4/15		Pfam_domain:PF00790;SMART_domains:SM00288;PROSITE_profiles:PS50179;Superfamily_domains:SSF48464;PIRSF_domain:PIRSF036948																	MODERATE		SNV	1			1											PASS	CCCAAGAACAA	aabc69c5-abb1-4d69-ad8f-37d8c8ea40b6	5e769bda-726f-4216-8994-4e43809890b9	f9a463c8-63db-4659-b927-2aeab2cc2058	8e6d3005-445a-4b7f-95ec-a988a121c628			False	Unknown	C	3	2	49	35323129	35323129	G	C	1	0	0	0	0	1	0	0	0	16825	933	33	5		5	TOM1	22	35323129	Missense_Mutation	SNP	G	TCGA-VD-A8KK-01A-11D-A39W-08	11570170	35323129	15495339	17	725											
C1orf127	148345	BI	GRCh38	chr1	10954127	10954127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgttcccggggttcctcCgacttcttggcatcgctgtg	12	12	1	0	rs757164639	byFrequency	TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.991G>A	p.Gly331Arg	p.G331R	ENST00000377004	10/13	89	56	33	72			C1orf127,missense_variant,p.G331R,ENST00000377004,NM_001170754.1,c.991G>A,MODERATE,YES,tolerated(1),benign(0.013),-1;C1orf127,missense_variant,p.G309R,ENST00000520253,,c.924G>A,MODERATE,,tolerated(1),benign(0.004),-1;C1orf127,missense_variant,p.G166R,ENST00000418570,,c.495G>A,MODERATE,,tolerated(1),benign(0.008),-1;C1orf127,upstream_gene_variant,,ENST00000476357,,,MODIFIER,,,,-1	T	ENST00000377004	Transcript	missense_variant	missense_variant	991/2761	991/2472	331/823	G/R	Gga/Aga	rs757164639	1		-1	C1orf127	HGNC	HGNC:26730	protein_coding	YES	CCDS53267.1	ENSP00000366203		G8JLG8	UPI0001C0B385	NM_001170754.1	tolerated(1)	benign(0.013)	10/13																			MODERATE	1	SNV	5			1	9.06e-05	9.101e-05	0	0	0	0	0	0.001111	0.0006188		PASS	TCCTCCGACTT	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de	common_in_exac	COSM5491017;COSM5491018	True	Unknown	T	3	4	50	10954127	10954127	C	T	1	0	0	0	0	1	0	0	0	1964	661	23	2		2	C1orf127	1	10954127	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		10954127	238002295	1	726											
LUZP1	7798	BI	GRCh38	chr1	23091455	23091455	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttacctattcgagttgggGggtcttctaaagatttcaag	10	6	3	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.2807C>T	p.Pro936Leu	p.P936L	ENST00000302291	4/5	175	168	7	145			LUZP1,missense_variant,p.P936L,ENST00000302291,,c.2807C>T,MODERATE,YES,deleterious_low_confidence(0.05),benign(0.004),-1;LUZP1,missense_variant,p.P936L,ENST00000418342,NM_001142546.1&NM_033631.3,c.2807C>T,MODERATE,,deleterious_low_confidence(0.05),benign(0.004),-1;LUZP1,missense_variant,p.P936L,ENST00000314174,,c.2807C>T,MODERATE,,deleterious_low_confidence(0.04),benign(0.004),-1;LUZP1,downstream_gene_variant,,ENST00000471849,,,MODIFIER,,,,-1;LUZP1,downstream_gene_variant,,ENST00000475164,,,MODIFIER,,,,-1;RP1-184J9.2,upstream_gene_variant,,ENST00000427154,,,MODIFIER,YES,,,-1	A	ENST00000302291	Transcript	missense_variant	missense_variant	3609/8898	2807/3231	936/1076	P/L	cCc/cTc		1		-1	LUZP1	HGNC	HGNC:14985	protein_coding	YES	CCDS30628.1	ENSP00000303758	Q86V48		UPI000020466A		deleterious_low_confidence(0.05)	benign(0.004)	4/5																			MODERATE		SNV	5			1											PASS	TTGGGGGGTCT	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	23091455	23091455	G	A	1	0	0	0	0	1	0	0	0	8995	1232	43	3		3	LUZP1	1	23091455	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	12137328	23091455	225864967	2	727											
NOTCH2	4853	BI	GRCh38	chr1	119925547	119925547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatactggctcagacaggtGgcaggaggggtgctgggggg	20	7	1	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.4269C>T	p.=	p.A1423A	ENST00000256646	25/34	77	73	4	76			NOTCH2,synonymous_variant,p.A1423A,ENST00000256646,NM_024408.3,c.4269C>T,LOW,YES,,,-1;NOTCH2,upstream_gene_variant,,ENST00000493703,,,MODIFIER,,,,-1	A	ENST00000256646	Transcript	synonymous_variant	synonymous_variant	4489/11389	4269/7416	1423/2471	A	gcC/gcT		1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3			25/34		PROSITE_profiles:PS50311;SMART_domains:SM00004;Superfamily_domains:SSF90193;PIRSF_domain:PIRSF002279																	LOW	1	SNV	1			1											PASS	CAGGTGGCAGG	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			False	Unknown	A	2	1	50	119925547	119925547	G	A	1	0	0	0	0	0	0	0	1	10593	1335	47	3		3	NOTCH2	1	119925547	Silent	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	96834092	119925547	129030875	3	728											
PDE4DIP	9659	BI	GRCh38	chr1	149010556	149010556	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	accccatcagcttgccaactCcccagaatacccccaaggag	6	18	1	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.5041C>A	p.Pro1681Thr	p.P1681T	ENST00000369354	31/44	141	59	82	152			PDE4DIP,missense_variant,p.P1817T,ENST00000585156,,c.5449C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.557),1;PDE4DIP,missense_variant,p.P1681T,ENST00000369356,NM_001198834.3,c.5041C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.841),1;PDE4DIP,missense_variant,p.P1681T,ENST00000369354,NM_014644.5,c.5041C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.897),1;PDE4DIP,missense_variant,p.P1637T,ENST00000618462,NM_001198832.2,c.4909C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.803),1;PDE4DIP,intron_variant,,ENST00000524974,,c.5335+765C>A,MODIFIER,,,,1;AC239802.1,upstream_gene_variant,,ENST00000582173,,,MODIFIER,YES,,,-1;RP4-791M13.5,upstream_gene_variant,,ENST00000531288,,,MODIFIER,YES,,,-1;PDE4DIP,non_coding_transcript_exon_variant,,ENST00000479369,,n.385C>A,MODIFIER,,,,1;PDE4DIP,intron_variant,,ENST00000530062,,c.91-16159C>A,MODIFIER,,,,1	A	ENST00000369354	Transcript	missense_variant	missense_variant	5231/8262	5041/7041	1681/2346	P/T	Ccc/Acc		1		1	PDE4DIP	HGNC	HGNC:15580	protein_coding		CCDS72891.1	ENSP00000358360		A0A0A0MRM0	UPI0002747118	NM_014644.5	deleterious(0.01)	possibly_damaging(0.897)	31/44																			MODERATE		SNV	2			1											PASS	CAACTCCCCAG	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	149010556	149010556	C	A	1	0	0	0	0	1	0	0	0	11731	855	30	5		5	PDE4DIP	1	149010556	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	29085009	149010556	99945866	4	729											
BAP1	8314	BI	GRCh38	chr3	52409596	52409597	+	Frame_Shift_Ins	INS	-	-	C													gtagatctcctccacttgcaINScccccttgacacctgcgatg					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.79dupG	p.Val27GlyfsTer42	p.V27Gfs*42	ENST00000460680	3/17	139	10	129	179			BAP1,frameshift_variant,p.V27Gfs*42,ENST00000460680,NM_004656.3,c.79dupG,HIGH,YES,,,-1;BAP1,frameshift_variant,p.V27Gfs*42,ENST00000296288,,c.79dupG,HIGH,,,,-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-159dupG,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000461861,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,frameshift_variant,p.V27Gfs*?,ENST00000490917,,c.79dupG,HIGH,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.79dupG,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	551-552/3937	79-80/2190	27/729	V/GX	gtg/gGtg		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			3/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	HIGH	1	insertion	1			1											PASS	CTTGCACCCCC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	C	7	5	50	52409596	52409596	-	C	1	0	1	1	0	0	0	0	0	1463	159	6	0		0	BAP1	3	52409596	Frame_Shift_Ins	INS	-	TCGA-VD-A8KL-01A-11D-A39W-08		52409596	145885963	5	730											
PCDHB7	56129	BI	GRCh38	chr5	141174500	141174500	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggacgccaaCgacaactcgcccttcgtgct	12	14	0	0	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.1665C>A	p.Asn555Lys	p.N555K	ENST00000231137	1/1	64	24	40	61			PCDHB7,missense_variant,p.N555K,ENST00000231137,NM_018940.3,c.1665C>A,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.94),1;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3,,MODIFIER,YES,,,1;CH17-140K24.2,intron_variant,,ENST00000624192,,n.73-37317G>T,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000625128,,,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000624802,,,MODIFIER,,,,-1;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,,,MODIFIER,YES,,,1	A	ENST00000231137	Transcript	missense_variant	missense_variant	1882/3765	1665/2382	555/793	N/K	aaC/aaA		1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0.01)	probably_damaging(0.94)	1/1		Prints_domain:PR00205;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE		SNV				1											PASS	GCCAACGACAA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	141174500	141174500	C	A	1	0	0	0	0	1	0	0	0	11634	535	19	5		5	PCDHB7	5	141174500	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		141174500	40363759	6	731											
IGFBP3	3486	BI	GRCh38	chr7	45917290	45917290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtagtcaactttgtagcGctggctgtctttagcatgcc	10	11	2	0	rs755356224		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.553C>T	p.Arg185Cys	p.R185C	ENST00000275521	2/5	131	102	29	94			IGFBP3,missense_variant,p.R164C,ENST00000613132,,c.490C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),-1;IGFBP3,missense_variant,p.R88C,ENST00000381086,,c.262C>T,MODERATE,,deleterious(0.02),probably_damaging(0.978),-1;IGFBP3,missense_variant,p.R185C,ENST00000275521,NM_000598.4,c.553C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),-1;IGFBP3,missense_variant,p.R191C,ENST00000381083,NM_001013398.1,c.571C>T,MODERATE,YES,deleterious(0.03),probably_damaging(1),-1;IGFBP3,missense_variant,p.R37C,ENST00000428530,,c.108C>T,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;IGFBP3,missense_variant,p.R47C,ENST00000417621,,c.137C>T,MODERATE,,deleterious(0.01),probably_damaging(0.962),-1;IGFBP3,missense_variant,p.R157C,ENST00000615754,,c.469C>T,MODERATE,,deleterious(0.01),probably_damaging(0.927),-1;IGFBP3,missense_variant,p.R75C,ENST00000448817,,c.223C>T,MODERATE,,deleterious(0.02),probably_damaging(0.999),-1;IGFBP3,non_coding_transcript_exon_variant,,ENST00000465642,,n.539C>T,MODIFIER,,,,-1;IGFBP3,non_coding_transcript_exon_variant,,ENST00000460477,,n.280C>T,MODIFIER,,,,-1;IGFBP3,upstream_gene_variant,,ENST00000460209,,,MODIFIER,,,,-1	A	ENST00000275521	Transcript	missense_variant	missense_variant	687/2262	553/876	185/291	R/C	Cgc/Tgc	rs755356224	1		-1	IGFBP3	HGNC	HGNC:5472	protein_coding		CCDS5505.1	ENSP00000275521	P17936		UPI000013DA64	NM_000598.4	deleterious(0.02)	probably_damaging(0.999)	2/5		Prints_domain:PR01979;Superfamily_domains:SSF57610																	MODERATE		SNV	1			1	8.236e-06	8.236e-06	0	0	0.0001156	0	0	0	0		PASS	GTAGCGCTGGC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de		COSM218925	True	Unknown	A	3	1	50	45917290	45917290	G	A	1	0	0	0	0	1	0	0	0	7486	1087	38	2		2	IGFBP3	7	45917290	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		45917290	113428683	7	732											
NRCAM	4897	BI	GRCh38	chr7	108231036	108231036	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatcaaaacttacaattaTccatccaaaatattataggt	2	7	1	0	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.545A>G	p.Asp182Gly	p.D182G	ENST00000379028	8/33	87	61	26	50			NRCAM,missense_variant,p.D182G,ENST00000379028,,c.545A>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.734),-1;NRCAM,missense_variant,p.D182G,ENST00000413765,NM_001193582.1,c.545A>G,MODERATE,,deleterious(0.01),probably_damaging(0.953),-1;NRCAM,missense_variant,p.D176G,ENST00000351718,NM_005010.4,c.527A>G,MODERATE,,deleterious(0.01),probably_damaging(0.996),-1;NRCAM,missense_variant,p.D182G,ENST00000379024,NM_001193583.1&NM_001193584.1,c.545A>G,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;NRCAM,missense_variant,p.D182G,ENST00000425651,NM_001037132.2,c.545A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.734),-1;NRCAM,missense_variant,p.D177G,ENST00000379022,,c.530A>G,MODERATE,,deleterious(0),possibly_damaging(0.782),-1;NRCAM,missense_variant,p.D176G,ENST00000613830,,c.527A>G,MODERATE,,deleterious(0),probably_damaging(0.973),-1;NRCAM,missense_variant,p.D176G,ENST00000417701,,c.527A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.902),-1;NRCAM,downstream_gene_variant,,ENST00000456431,,,MODIFIER,,,,-1;NRCAM,downstream_gene_variant,,ENST00000442580,,,MODIFIER,,,,-1;NRCAM,downstream_gene_variant,,ENST00000419936,,,MODIFIER,,,,-1;NRCAM,downstream_gene_variant,,ENST00000418239,,,MODIFIER,,,,-1	C	ENST00000379028	Transcript	missense_variant	missense_variant	1031/6685	545/3915	182/1304	D/G	gAt/gGt		1		-1	NRCAM	HGNC	HGNC:7994	protein_coding	YES	CCDS47686.1	ENSP00000368314	Q92823				deleterious(0.01)	possibly_damaging(0.734)	8/33		PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE	1	SNV	5			1											PASS	AATTATCCATC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	C	3	2	50	108231036	108231036	T	C	1	0	0	0	0	1	0	0	0	10700	1449	50	4		4	NRCAM	7	108231036	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	62313746	108231036	51114937	8	733											
PAPPA	5069	BI	GRCh38	chr9	116187681	116187681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaattcagcaatgcccacGgctttctgctggacacgagt	11	11	2	0	rs201429158	by1000G;byCluster	TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.943G>A	p.Gly315Ser	p.G315S	ENST00000328252	2/22	31	14	17	42			PAPPA,missense_variant,p.G315S,ENST00000328252,NM_002581.3,c.943G>A,MODERATE,YES,tolerated(0.54),benign(0.006),1	A	ENST00000328252	Transcript	missense_variant	missense_variant	1312/10959	943/4884	315/1627	G/S	Ggc/Agc	rs201429158	1		1	PAPPA	HGNC	HGNC:8602	protein_coding	YES	CCDS6813.1	ENSP00000330658	Q13219			NM_002581.3	tolerated(0.54)	benign(0.006)	2/22																			MODERATE	1	SNV	1			1	8.236e-06	8.24e-06	0	0	0	0	1.499e-05	0	0		PASS	CCCACGGCTTT	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	116187681	116187681	G	A	1	0	0	0	0	1	0	0	0	11512	1116	39	2		2	PAPPA	9	116187681	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		116187681	22207036	9	734											
WDR34	89891	BI	GRCh38	chr9	128634293	128634318	+	Frame_Shift_Del	DEL	GAGGGAGAGCTGCAGCGAAGTCAAGG	GAGGGAGAGCTGCAGCGAAGTCAAGG	-													cgcacagcaaacagatacttGagggagagctgcagcgaagt					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC	p.Pro427GlnfsTer24	p.P427Qfs*24	ENST00000372715	8/9	47	31	16	103			WDR34,frameshift_variant,p.P427Qfs*24,ENST00000372715,NM_052844.3,c.1280_1305delCCTTGACTTCGCTGCAGCTCTCCCTC,HIGH,YES,,,-1;SPTAN1,downstream_gene_variant,,ENST00000372731,NM_003127.3,,MODIFIER,,,,1;SPTAN1,downstream_gene_variant,,ENST00000372739,NM_001130438.2,,MODIFIER,YES,,,1;SPTAN1,downstream_gene_variant,,ENST00000630804,,,MODIFIER,,,,1;SPTAN1,downstream_gene_variant,,ENST00000358161,NM_001195532.1,,MODIFIER,,,,1;SPTAN1,downstream_gene_variant,,ENST00000630866,,,MODIFIER,,,,1;WDR34,downstream_gene_variant,,ENST00000451652,,,MODIFIER,,,,-1;WDR34,downstream_gene_variant,,ENST00000419989,,,MODIFIER,,,,-1;SPTAN1,downstream_gene_variant,,ENST00000630981,,,MODIFIER,,,,1;RP11-216B9.9,upstream_gene_variant,,ENST00000630523,,,MODIFIER,YES,,,-1;WDR34,downstream_gene_variant,,ENST00000483181,,,MODIFIER,,,,-1;WDR34,downstream_gene_variant,,ENST00000480613,,,MODIFIER,,,,-1;WDR34,downstream_gene_variant,,ENST00000473486,,,MODIFIER,,,,-1;SPTAN1,downstream_gene_variant,,ENST00000625980,,,MODIFIER,,,,1;SPTAN1,downstream_gene_variant,,ENST00000630763,,,MODIFIER,,,,1;SPTAN1,downstream_gene_variant,,ENST00000630147,,,MODIFIER,,,,1	-	ENST00000372715	Transcript	frameshift_variant	frameshift_variant	1341-1366/1755	1280-1305/1611	427-435/536	PLTSLQLSL/X	cCCTTGACTTCGCTGCAGCTCTCCCTC/c		1		-1	WDR34	HGNC	HGNC:28296	protein_coding	YES	CCDS6906.2	ENSP00000361800	Q96EX3			NM_052844.3			8/9		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	HIGH	1	deletion	1			1											PASS	ATACTTGAGGGAGAGCTGCAGCGAAGTCAAGGGAGGG	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	-	7	5	50	128634293	128634293	GAGGGAGAGCTGCAGCGAAGTCAAGG	-	1	0	1	0	1	0	0	0	0	17848	1277	45	0		0	WDR34	9	128634293	Frame_Shift_Del	DEL	GAGGGAGAGCTGCAGCGAAGTCAAGG	TCGA-VD-A8KL-01A-11D-A39W-08	12446612	128634293	9760424	10	735											
FUBP3	8939	BI	GRCh38	chr9	130616414	130616414	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaatggacctggctttcAtaatgacatagacagcaaca	8	9	1	2	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.464A>T	p.His155Leu	p.H155L	ENST00000319725	7/19	38	27	11	36			FUBP3,missense_variant,p.H155L,ENST00000319725,NM_003934.1,c.464A>T,MODERATE,YES,deleterious(0.02),benign(0.423),1;FUBP3,upstream_gene_variant,,ENST00000487406,,,MODIFIER,,,,1;FUBP3,downstream_gene_variant,,ENST00000465949,,,MODIFIER,,,,1	T	ENST00000319725	Transcript	missense_variant	missense_variant	539/3124	464/1719	155/572	H/L	cAt/cTt		1		1	FUBP3	HGNC	HGNC:4005	protein_coding	YES	CCDS43893.1	ENSP00000318177	Q96I24	A0A024R8A7	UPI00001C1EAA	NM_003934.1	deleterious(0.02)	benign(0.423)	7/19		Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1											PASS	CTTTCATAATG	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	T	3	4	50	130616414	130616414	A	T	1	0	0	0	0	1	0	0	0	5964	217	8	5		5	FUBP3	9	130616414	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08	1982121	130616414	7778303	11	736											
DHTKD1	55526	BI	GRCh38	chr10	12117716	12117722	+	Frame_Shift_Del	DEL	TTAACCC	TTAACCC	-													aatggcaccaggaacaacatTtaacccggtcattggtgatt					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.2363_2369delTTAACCC	p.Phe788TrpfsTer28	p.F788Wfs*28	ENST00000263035	14/17	108	45	63	108			DHTKD1,frameshift_variant,p.F788Wfs*28,ENST00000263035,NM_018706.6,c.2363_2369delTTAACCC,HIGH,YES,,,1;DHTKD1,downstream_gene_variant,,ENST00000448829,,,MODIFIER,,,,1;RNU6-88P,upstream_gene_variant,,ENST00000606801,,,MODIFIER,YES,,,-1;DHTKD1,upstream_gene_variant,,ENST00000479283,,,MODIFIER,,,,1	-	ENST00000263035	Transcript	frameshift_variant	frameshift_variant	2425-2431/5159	2363-2369/2760	788-790/919	FNP/X	tTTAACCCg/tg		1		1	DHTKD1	HGNC	HGNC:23537	protein_coding	YES	CCDS7087.1	ENSP00000263035	Q96HY7		UPI000013D38C	NM_018706.6			14/17		TIGRFAM_domain:TIGR00239;PIRSF_domain:PIRSF000157																	HIGH	1	deletion	1			1											PASS	CAACATTTAACCCGGTCA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	-	7	5	50	12117716	12117716	TTAACCC	-	1	0	1	0	1	0	0	0	0	4304	1841	64	0		0	DHTKD1	10	12117716	Frame_Shift_Del	DEL	TTAACCC	TCGA-VD-A8KL-01A-11D-A39W-08		12117716	121679706	12	737											
RPP38	10557	BI	GRCh38	chr10	15104063	15104063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaagcttgctgacggtcGgcaggcttctgtaacattac	12	9	1	2	rs562959917	by1000G	TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.749G>A	p.Arg250Gln	p.R250Q	ENST00000378197	3/3	80	54	26	85			RPP38,missense_variant,p.R250Q,ENST00000616640,NM_001265601.1&NM_006414.4,c.749G>A,MODERATE,YES,tolerated(1),benign(0),1;RPP38,missense_variant,p.R250Q,ENST00000378197,NM_183005.4,c.749G>A,MODERATE,,tolerated(1),benign(0),1;RPP38,missense_variant,p.R250Q,ENST00000378203,NM_001097590.2,c.749G>A,MODERATE,,tolerated(1),benign(0),1;RPP38,missense_variant,p.R250Q,ENST00000378202,,c.749G>A,MODERATE,,tolerated(1),benign(0),1;RPP38,intron_variant,,ENST00000378201,,c.399+350G>A,MODIFIER,,,,1;NMT2,downstream_gene_variant,,ENST00000378165,NM_004808.2,,MODIFIER,YES,,,-1;NMT2,downstream_gene_variant,,ENST00000378150,,,MODIFIER,,,,-1;RPP38,downstream_gene_variant,,ENST00000441850,,,MODIFIER,,,,1;NMT2,intron_variant,,ENST00000466201,,n.128-380C>T,MODIFIER,,,,-1;RPP38,intron_variant,,ENST00000451677,,n.162+6665G>A,MODIFIER,,,,1;NMT2,downstream_gene_variant,,ENST00000486786,,,MODIFIER,,,,-1	A	ENST00000378197	Transcript	missense_variant	missense_variant	1263/1457	749/852	250/283	R/Q	cGg/cAg	rs562959917	1		1	RPP38	HGNC	HGNC:30329	protein_coding		CCDS7108.1	ENSP00000367439	P78345			NM_183005.4	tolerated(1)	benign(0)	3/3			0	0	0		0	0	0										MODERATE		SNV	1			1	4.943e-05	4.979e-05	0	0.0001728	0	0	3.012e-05	0	0.0001212		PASS	CGGTCGGCAGG	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	15104063	15104063	G	A	1	0	0	0	0	1	0	0	0	13867	1116	39	2		2	RPP38	10	15104063	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	2986347	15104063	118693359	13	738											
PRKG1	5592	BI	GRCh38	chr10	50991524	50991524	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtcggtgctcccagTgccctcgacccacatcggcc	10	18	0	0	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.146T>G	p.Val49Gly	p.V49G	ENST00000373985	1/18	13	5	8	13			PRKG1,missense_variant,p.V49G,ENST00000373985,NM_001098512.2,c.146T>G,MODERATE,,tolerated(0.32),benign(0),1	G	ENST00000373985	Transcript	missense_variant	missense_variant	167/6487	146/2016	49/671	V/G	gTg/gGg		1		1	PRKG1	HGNC	HGNC:9414	protein_coding			ENSP00000363097		Q5SQU3	UPI000016A69C	NM_001098512.2	tolerated(0.32)	benign(0)	1/18		Superfamily_domains:SSF51206;PIRSF_domain:PIRSF000559																	MODERATE	1	SNV	1			1											PASS	CCCAGTGCCCT	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	G	3	3	50	50991524	50991524	T	G	1	0	0	0	0	1	0	0	0	12655	1696	59	5		5	PRKG1	10	50991524	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	35887461	50991524	82805898	14	739											
PRLHR	2834	BI	GRCh38	chr10	118594182	118594182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatggggggctatcttgcGgggccaagcgaccaacagtt	15	11	1	0	rs774369942		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.1063C>T	p.Arg355Cys	p.R355C	ENST00000239032	2/2	43	24	19	40			PRLHR,missense_variant,p.R355C,ENST00000239032,NM_004248.2,c.1063C>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1	A	ENST00000239032	Transcript	missense_variant	missense_variant	1253/5446	1063/1113	355/370	R/C	Cgc/Tgc	rs774369942	1		-1	PRLHR	HGNC	HGNC:4464	protein_coding	YES	CCDS7606.1	ENSP00000239032	P49683		UPI000013CA6F	NM_004248.2	deleterious(0)	probably_damaging(0.993)	2/2		Prints_domain:PR01018;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1	8.277e-06	9.125e-06	0	0	0	0	0	0	0.0001106		PASS	CTTGCGGGGCC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	118594182	118594182	G	A	1	0	0	0	0	1	0	0	0	12662	1116	39	2		2	PRLHR	10	118594182	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	67602658	118594182	15203240	15	740											
SCN8A	6334	BI	GRCh38	chr12	51688771	51688771	+	Frame_Shift_Del	DEL	T	T	-													tctgcaggtatataacagagTttgtaaacctaggcaatgtt					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.630delT	p.Phe210LeufsTer2	p.F210Lfs*2	ENST00000354534	6/27	162	153	9	98			SCN8A,frameshift_variant,p.F210Lfs*2,ENST00000354534,NM_014191.3,c.630delT,HIGH,YES,,,1;SCN8A,frameshift_variant,p.F210Lfs*2,ENST00000545061,NM_001177984.2,c.630delT,HIGH,,,,1;SCN8A,frameshift_variant,p.F210Lfs*2,ENST00000599343,,c.630delT,HIGH,,,,1;SCN8A,frameshift_variant,p.F210Lfs*2,ENST00000355133,,c.630delT,HIGH,,,,1;SCN8A,intron_variant,,ENST00000627620,,c.615-232delT,MODIFIER,,,,1;SCN8A,intron_variant,,ENST00000551216,,c.165-232delT,MODIFIER,,,,1;SCN8A,intron_variant,,ENST00000550891,,n.743-232delT,MODIFIER,,,,1	-	ENST00000354534	Transcript	frameshift_variant	frameshift_variant	806/11556	628/5943	210/1980	F/X	Ttt/tt		1		1	SCN8A	HGNC	HGNC:10596	protein_coding	YES	CCDS44891.1	ENSP00000346534	Q9UQD0		UPI000006FD85	NM_014191.3			6/27		Transmembrane_helices:Tmhmm;Pfam_domain:PF00520;Superfamily_domains:SSF81324																	HIGH	1	deletion	1	2		1											PASS	ACAGAGTTTGTA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			False	Unknown	-	7	5	50	51688771	51688771	T	-	1	0	1	0	1	0	0	0	0	14193	1725	60	0		0	SCN8A	12	51688771	Frame_Shift_Del	DEL	T	TCGA-VD-A8KL-01A-11D-A39W-08		51688771	81586538	16	741											
SLC39A5	283375	BI	GRCh38	chr12	56231473	56231473	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcttctccacagcctggggCtaggccgagttcaggggctt	15	12	2	0	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.199C>A	p.Leu67Ile	p.L67I	ENST00000266980	2/11	95	56	39	52			SLC39A5,missense_variant,p.L67I,ENST00000266980,NM_001135195.1,c.199C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;SLC39A5,missense_variant,p.L67I,ENST00000454355,NM_173596.2,c.199C>A,MODERATE,,deleterious(0.01),probably_damaging(0.996),1;SLC39A5,missense_variant,p.L38I,ENST00000436633,,c.112C>A,MODERATE,,deleterious(0.01),probably_damaging(0.998),1;SLC39A5,missense_variant,p.L67I,ENST00000419753,,c.199C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),1;SLC39A5,missense_variant,p.L67I,ENST00000437277,,c.199C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),1;SLC39A5,missense_variant,p.L67I,ENST00000417965,,c.199C>A,MODERATE,,,,1;SLC39A5,missense_variant,p.L67I,ENST00000424625,,c.199C>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.996),1;NABP2,downstream_gene_variant,,ENST00000380198,,,MODIFIER,YES,,,1;NABP2,downstream_gene_variant,,ENST00000267023,NM_024068.3,,MODIFIER,,,,1;NABP2,downstream_gene_variant,,ENST00000341463,,,MODIFIER,,,,1;NABP2,downstream_gene_variant,,ENST00000399713,,,MODIFIER,,,,1;SLC39A5,non_coding_transcript_exon_variant,,ENST00000481103,,n.68C>A,MODIFIER,,,,1;SLC39A5,downstream_gene_variant,,ENST00000493574,,,MODIFIER,,,,1	A	ENST00000266980	Transcript	missense_variant	missense_variant	492/2031	199/1623	67/540	L/I	Cta/Ata		1		1	SLC39A5	HGNC	HGNC:20502	protein_coding	YES	CCDS8912.2	ENSP00000266980	Q6ZMH5	A0A024RB24	UPI000035E86A	NM_001135195.1	deleterious(0.01)	probably_damaging(0.996)	2/11		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	TGGGGCTAGGC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	56231473	56231473	C	A	1	0	0	0	0	1	0	0	0	14899	796	28	5		5	SLC39A5	12	56231473	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	4542702	56231473	77043836	17	742											
GRIN2A	2903	BI	GRCh38	chr16	9849902	9849902	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacagtcggagaaggaCttgtacctgggccacacggc	14	12	1	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.1182G>T	p.Lys394Asn	p.K394N	ENST00000330684	5/13	58	53	5	49			GRIN2A,missense_variant,p.K394N,ENST00000396573,NM_000833.3,c.1182G>T,MODERATE,YES,tolerated(0.81),benign(0.001),-1;GRIN2A,missense_variant,p.K257N,ENST00000396575,,c.771G>T,MODERATE,,tolerated(0.78),probably_damaging(0.978),-1;GRIN2A,missense_variant,p.K394N,ENST00000330684,NM_001134407.1,c.1182G>T,MODERATE,,tolerated(0.81),benign(0.001),-1;GRIN2A,missense_variant,p.K394N,ENST00000562109,NM_001134408.1,c.1182G>T,MODERATE,,tolerated(0.59),benign(0.001),-1;GRIN2A,missense_variant,p.K257N,ENST00000535259,,c.771G>T,MODERATE,,tolerated(0.64),benign(0.003),-1;GRIN2A,non_coding_transcript_exon_variant,,ENST00000461292,,n.821G>T,MODIFIER,,,,-1;GRIN2A,non_coding_transcript_exon_variant,,ENST00000566683,,n.415G>T,MODIFIER,,,,-1	A	ENST00000330684	Transcript	missense_variant	missense_variant	1730/5031	1182/4395	394/1464	K/N	aaG/aaT		1		-1	GRIN2A	HGNC	HGNC:4585	protein_coding		CCDS10539.1	ENSP00000332549	Q12879	Q547U9	UPI000000D7AB	NM_001134407.1	tolerated(0.81)	benign(0.001)	5/13																			MODERATE		SNV	1			1											PASS	AAGGACTTGTA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	3	1	50	9849902	9849902	C	A	1	0	0	0	0	1	0	0	0	6661	564	20	5		5	GRIN2A	16	9849902	Missense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08		9849902	80488443	18	743											
SMG1	23049	BI	GRCh38	chr16	18809608	18809608	+	Missense_Mutation	SNP	G	G	C													ccttcatacagctgagccaaGttatctagattagttgcttc					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.10947C>G	p.Asn3649Lys	p.N3649K	ENST00000446231	63/63	25	21	4	17			SMG1,missense_variant,p.N3649K,ENST00000446231,NM_015092.4,c.10947C>G,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;SMG1,missense_variant,p.N3539K,ENST00000565324,,c.10617C>G,MODERATE,,deleterious(0),probably_damaging(0.994),-1;RP11-1035H13.2,intron_variant,,ENST00000569096,,n.137-2349G>C,MODIFIER,YES,,,1;SMG1,downstream_gene_variant,,ENST00000561940,,,MODIFIER,,,,-1	C	ENST00000446231	Transcript	missense_variant	missense_variant	11360/16115	10947/10986	3649/3661	N/K	aaC/aaG		1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0)	probably_damaging(0.996)	63/63		Pfam_domain:PF02260;PROSITE_profiles:PS51190																	MODERATE	1	SNV	1			1											PASS	GCCAAGTTATC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			False	Unknown	C	3	2	50	18809608	18809608	G	C	1	0	0	0	0	1	0	0	0	15089	1020	36	5		5	SMG1	16	18809608	Missense_Mutation	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08	8959706	18809608	71528737	19	744	11	2									
SMG1	23049	BI	GRCh38	chr16	18809610	18809610	+	Missense_Mutation	SNP	T	T	A													ttcatacagctgagccaagtTatctagattagttgcttcct					novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.10945A>T	p.Asn3649Tyr	p.N3649Y	ENST00000446231	63/63	24	20	4	16			SMG1,missense_variant,p.N3649Y,ENST00000446231,NM_015092.4,c.10945A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;SMG1,missense_variant,p.N3539Y,ENST00000565324,,c.10615A>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;RP11-1035H13.2,intron_variant,,ENST00000569096,,n.137-2347T>A,MODIFIER,YES,,,1;SMG1,downstream_gene_variant,,ENST00000561940,,,MODIFIER,,,,-1	A	ENST00000446231	Transcript	missense_variant	missense_variant	11358/16115	10945/10986	3649/3661	N/Y	Aac/Tac		1		-1	SMG1	HGNC	HGNC:30045	protein_coding	YES	CCDS45430.1	ENSP00000402515	Q96Q15		UPI00004F8E22	NM_015092.4	deleterious(0)	probably_damaging(0.999)	63/63		Pfam_domain:PF02260;PROSITE_profiles:PS51190																	MODERATE	1	SNV	1			1											PASS	CAAGTTATCTA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			False	Unknown	A	3	1	50	18809610	18809610	T	A	1	0	0	0	0	1	0	0	0	15089	1754	61	5		5	SMG1	16	18809610	Missense_Mutation	SNP	T	TCGA-VD-A8KL-01A-11D-A39W-08	2	18809610	71528735	20	745	11	2									
PAGR1	79447	BI	GRCh38	chr16	29819572	29819572	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggaagctcagcccggagcCagaaacgggaggcccgcctg	15	14	1	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.583C>T	p.Gln195Ter	p.Q195*	ENST00000320330	3/3	219	154	65	196			PAGR1,stop_gained,p.Q195*,ENST00000320330,NM_024516.3,c.583C>T,HIGH,YES,,,1;PRRT2,downstream_gene_variant,,ENST00000300797,NM_001256443.1,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000395353,NM_017458.3,,MODIFIER,YES,,,1;MVP,upstream_gene_variant,,ENST00000357402,NM_005115.4,,MODIFIER,,,,1;PRRT2,downstream_gene_variant,,ENST00000358758,NM_145239.2,,MODIFIER,,,,1;PRRT2,downstream_gene_variant,,ENST00000572820,,,MODIFIER,,,,1;PRRT2,downstream_gene_variant,,ENST00000567659,NM_001256442.1,,MODIFIER,YES,,,1;MVP,upstream_gene_variant,,ENST00000563915,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000570234,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000563558,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000566066,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000565164,,,MODIFIER,,,,1;PAGR1,non_coding_transcript_exon_variant,,ENST00000569809,,n.373G>A,MODIFIER,,,,-1;PAGR1,non_coding_transcript_exon_variant,,ENST00000569039,,n.213G>A,MODIFIER,,,,-1;PAGR1,non_coding_transcript_exon_variant,,ENST00000564980,,n.405G>A,MODIFIER,,,,-1;MVP,upstream_gene_variant,,ENST00000565830,,,MODIFIER,,,,1;CTD-2574D22.6,stop_gained,p.Q25*,ENST00000562285,,c.72C>T,HIGH,YES,,,1;PAGR1,3_prime_UTR_variant,,ENST00000609618,,c.*524C>T,MODIFIER,YES,,,1;MVP,upstream_gene_variant,,ENST00000566859,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000569887,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000563096,,,MODIFIER,,,,1;MVP,upstream_gene_variant,,ENST00000562463,,,MODIFIER,,,,1	T	ENST00000320330	Transcript	stop_gained	stop_gained	1157/1702	583/765	195/254	Q/*	Cag/Tag		1		1	PAGR1	HGNC	HGNC:28707	protein_coding	YES	CCDS10655.1	ENSP00000326519	Q9BTK6		UPI000006FAEB	NM_024516.3			3/3																			HIGH	1	SNV	1			1											PASS	GGAGCCAGAAA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	T	4	4	50	29819572	29819572	C	T	1	0	0	0	0	0	1	0	0	11473	595	21	3		3	PAGR1	16	29819572	Nonsense_Mutation	SNP	C	TCGA-VD-A8KL-01A-11D-A39W-08	11009962	29819572	60518773	21	746											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	66	42	24	66			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de		COSM52969	True	Unknown	T	3	4	50	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		3118944	55498672	22	747											
ZNF341	84905	BI	GRCh38	chr20	33770275	33770275	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacagcacagccccaagaaGgacaatgccgtctacaagta	8	14	1	1	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.1605G>A	p.=	p.K535K	ENST00000375200	10/15	36	5	31	36			ZNF341,synonymous_variant,p.K528K,ENST00000342427,NM_032819.4,c.1584G>A,LOW,,,,1;ZNF341,synonymous_variant,p.K535K,ENST00000375200,NM_001282935.1&NM_001282933.1,c.1605G>A,LOW,YES,,,1;ZNF341,synonymous_variant,p.K535K,ENST00000483118,,c.1605G>A,LOW,,,,1;ZNF341,3_prime_UTR_variant,,ENST00000497876,,c.*1189G>A,MODIFIER,,,,1	A	ENST00000375200	Transcript	synonymous_variant	synonymous_variant	1867/3579	1605/2565	535/854	K	aaG/aaA		1		1	ZNF341	HGNC	HGNC:15992	protein_coding	YES	CCDS74719.1	ENSP00000364346	Q9BYN7		UPI0000470A07	NM_001282935.1;NM_001282933.1			10/15		Superfamily_domains:SSF57667																	LOW	1	SNV	1			1											PASS	AAGAAGGACAA	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	A	2	1	50	33770275	33770275	G	A	1	0	0	0	0	0	0	0	1	18429	991	35	3		3	ZNF341	20	33770275	Silent	SNP	G	TCGA-VD-A8KL-01A-11D-A39W-08		33770275	30673892	23	748											
SHROOM2	357	BI	GRCh38	chrX	9896513	9896513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcagacctgccgcggAggctcggcacctttgcagag	14	13	1	2	novel		TCGA-VD-A8KL-01A-11D-A39W-08	TCGA-VD-A8KL-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b095f82-bf20-47a2-90cb-36e97c5216dd	33a04c9d-2244-4121-8621-1120b581256c	c.2605A>G	p.Arg869Gly	p.R869G	ENST00000380913	4/10	14	10	4	16			SHROOM2,missense_variant,p.R869G,ENST00000380913,NM_001649.2,c.2605A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.788),1;SHROOM2,upstream_gene_variant,,ENST00000493668,,,MODIFIER,,,,1	G	ENST00000380913	Transcript	missense_variant	missense_variant	2695/7447	2605/4851	869/1616	R/G	Agg/Ggg		1		1	SHROOM2	HGNC	HGNC:630	protein_coding	YES	CCDS14135.1	ENSP00000370299	Q13796			NM_001649.2	deleterious(0)	possibly_damaging(0.788)	4/10																			MODERATE	1	SNV	1			1											PASS	CGCGGAGGCTC	e3bd9eea-e51d-4398-898d-742198ddd55f	5b85ea9f-c814-4545-a6f0-94f098b06db1	dac4732d-074f-4ea2-8848-3038566384f5	a9f956a0-660f-4185-a843-d9911d2484de			True	Unknown	G	3	3	50	9896513	9896513	A	G	1	0	0	0	0	1	0	0	0	14557	295	11	4		4	SHROOM2	23	9896513	Missense_Mutation	SNP	A	TCGA-VD-A8KL-01A-11D-A39W-08		9896513	146144382	24	749											
PUM1	9698	BI	GRCh38	chr1	30964877	30964877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccagtcagggagtcaCggcgggagccactgccagtg	16	12	2	0	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.2120G>A	p.Arg707His	p.R707H	ENST00000257075	14/22	68	62	6	75			PUM1,missense_variant,p.R708H,ENST00000373747,,c.2123G>A,MODERATE,,deleterious(0),possibly_damaging(0.866),-1;PUM1,missense_variant,p.R707H,ENST00000257075,NM_014676.2,c.2120G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;PUM1,missense_variant,p.R465H,ENST00000424085,,c.1394G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.835),-1;PUM1,missense_variant,p.R743H,ENST00000373741,,c.2228G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;PUM1,missense_variant,p.R707H,ENST00000426105,NM_001020658.1,c.2120G>A,MODERATE,YES,deleterious(0),probably_damaging(0.943),-1;PUM1,missense_variant,p.R681H,ENST00000440538,,c.2042G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;PUM1,missense_variant,p.R648H,ENST00000373742,,c.1943G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.905),-1;PUM1,missense_variant,p.R419H,ENST00000498419,,c.1254G>A,MODERATE,,deleterious(0),probably_damaging(0.991),-1;PUM1,intron_variant,,ENST00000525843,,c.2138+1105G>A,MODIFIER,,,,-1;PUM1,downstream_gene_variant,,ENST00000532678,,,MODIFIER,,,,-1;PUM1,downstream_gene_variant,,ENST00000490546,,,MODIFIER,,,,-1;PUM1,downstream_gene_variant,,ENST00000471894,,,MODIFIER,,,,-1;PUM1,upstream_gene_variant,,ENST00000527498,,,MODIFIER,,,,-1;PUM1,downstream_gene_variant,,ENST00000498627,,,MODIFIER,,,,-1	T	ENST00000257075	Transcript	missense_variant	missense_variant	2214/5360	2120/3561	707/1186	R/H	cGt/cAt		1		-1	PUM1	HGNC	HGNC:14957	protein_coding		CCDS338.1	ENSP00000257075	Q14671		UPI000014FCE2	NM_014676.2	deleterious(0)	probably_damaging(0.993)	14/22		PROSITE_profiles:PS50324																	MODERATE		SNV	1			1											PASS	AGTCACGGCGG	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			False	Unknown	T	3	4	51	30964877	30964877	C	T	1	0	0	0	0	1	0	0	0	12982	536	19	1		1	PUM1	1	30964877	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		30964877	217991545	1	750											
MACF1	23499	BI	GRCh38	chr1	39331278	39331278	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaaagccatgcaaaagGgcctccttgaccaagacaca	7	13	2	2	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.4705G>C	p.Gly1569Arg	p.G1569R	ENST00000372915	36/97	36	30	6	49			MACF1,missense_variant,p.G1564R,ENST00000564288,,c.4690G>C,MODERATE,,,unknown(0),1;MACF1,missense_variant,p.G1601R,ENST00000567887,,c.4801G>C,MODERATE,,,probably_damaging(0.979),1;MACF1,missense_variant,p.G1569R,ENST00000372915,,c.4705G>C,MODERATE,,,probably_damaging(0.997),1;MACF1,missense_variant,p.G4R,ENST00000289893,,c.10G>C,MODERATE,,,probably_damaging(1),1;MACF1,intron_variant,,ENST00000361689,NM_012090.5,c.4629+3925G>C,MODIFIER,YES,,,1;MACF1,intron_variant,,ENST00000372925,,c.2029+3925G>C,MODIFIER,,,,1;MACF1,intron_variant,,ENST00000530262,,c.5076+3925G>C,MODIFIER,,,,1;MACF1,intron_variant,,ENST00000476350,,n.2029+3925G>C,MODIFIER,,,,1;MACF1,downstream_gene_variant,,ENST00000528611,,,MODIFIER,,,,1;MACF1,downstream_gene_variant,,ENST00000496804,,,MODIFIER,,,,1	C	ENST00000372915	Transcript	missense_variant	missense_variant	4792/23440	4705/22167	1569/7388	G/R	Ggc/Cgc		1		1	MACF1	HGNC	HGNC:13664	protein_coding			ENSP00000362006	Q9UPN3		UPI0001F78894			probably_damaging(0.997)	36/97		SMART_domains:SM00250;Superfamily_domains:SSF75399;Superfamily_domains:SSF48726;Superfamily_domains:SSF53098																	MODERATE		SNV	5			1											PASS	AAAAGGGCCTC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	C	3	2	51	39331278	39331278	G	C	1	0	0	0	0	1	0	0	0	9060	1232	43	5		5	MACF1	1	39331278	Missense_Mutation	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	8366401	39331278	209625144	2	751											
HHAT	55733	BI	GRCh38	chr1	210349034	210349034	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcactaggcttccacttctAttccttctatgaagtttaca	4	12	3	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.59A>G	p.Tyr20Cys	p.Y20C	ENST00000261458	2/12	70	53	17	64			HHAT,missense_variant,p.Y20C,ENST00000367010,NM_001170580.2,c.59A>G,MODERATE,,deleterious(0),probably_damaging(0.98),1;HHAT,missense_variant,p.Y20C,ENST00000261458,NM_018194.5,c.59A>G,MODERATE,,deleterious(0),probably_damaging(0.98),1;HHAT,missense_variant,p.Y20C,ENST00000413764,NM_001122834.3,c.59A>G,MODERATE,,deleterious(0),probably_damaging(0.98),1;HHAT,missense_variant,p.Y20C,ENST00000537898,NM_001170588.2,c.59A>G,MODERATE,,deleterious(0),probably_damaging(0.99),1;HHAT,missense_variant,p.Y20C,ENST00000541565,NM_001170564.2,c.59A>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.926),1;HHAT,intron_variant,,ENST00000545154,NM_001170587.2,c.95-13818A>G,MODIFIER,YES,,,1	G	ENST00000261458	Transcript	missense_variant	missense_variant	254/3594	59/1482	20/493	Y/C	tAt/tGt		1		1	HHAT	HGNC	HGNC:18270	protein_coding		CCDS1495.1	ENSP00000261458	Q5VTY9		UPI000004A086	NM_018194.5	deleterious(0)	probably_damaging(0.98)	2/12		Transmembrane_helices:Tmhmm																	MODERATE		SNV	2			1											PASS	CTTCTATTCCT	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	G	3	3	51	210349034	210349034	A	G	1	0	0	0	0	1	0	0	0	6974	449	16	4		4	HHAT	1	210349034	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08	171017756	210349034	38607388	3	752											
PREPL	9581	BI	GRCh38	chr2	44343938	44343938	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaattgaataaaacttcataAttatcattgtctgctgtata	4	5	3	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.423T>C	p.=	p.N141N	ENST00000260648	4/14	47	44	3	60			PREPL,synonymous_variant,p.N52N,ENST00000541738,NM_001171617.1,c.156T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000409936,NM_001171606.1,c.423T>C,LOW,YES,,,-1;PREPL,synonymous_variant,p.N52N,ENST00000409411,NM_001171613.1,c.156T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N52N,ENST00000409957,,c.156T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000260648,NM_006036.4,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000410081,,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000409272,NM_001171603.1,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000378511,NM_001042385.2,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000378520,NM_001042386.2,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000438314,,c.423T>C,LOW,,,,-1;PREPL,non_coding_transcript_exon_variant,,ENST00000540817,,n.427T>C,MODIFIER,,,,-1;PREPL,downstream_gene_variant,,ENST00000477410,,,MODIFIER,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000426481,,c.423T>C,LOW,,,,-1;PREPL,synonymous_variant,p.N141N,ENST00000425263,,c.423T>C,LOW,,,,-1	G	ENST00000260648	Transcript	synonymous_variant	synonymous_variant	1382/3672	423/2184	141/727	N	aaT/aaC		1		-1	PREPL	HGNC	HGNC:30228	protein_coding		CCDS33190.1	ENSP00000260648	Q4J6C6		UPI0000208358	NM_006036.4			4/14		Pfam_domain:PF02897;Superfamily_domains:SSF50993																	LOW		SNV	1			1											PASS	TCATAATTATC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			False	Unknown	G	2	3	51	44343938	44343938	A	G	1	0	0	0	0	0	0	0	1	12609	98	4	4		4	PREPL	2	44343938	Silent	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		44343938	197849591	4	753											
DYSF	8291	BI	GRCh38	chr2	71528320	71528320	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgatgccgtgatggacaaCgtgaaacagatctttggctt	12	8	1	3	rs757047049		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1203C>T	p.=	p.N401N	ENST00000258104	13/55	19	13	6	24			DYSF,synonymous_variant,p.N401N,ENST00000258104,NM_003494.3&NM_001130976.1,c.1203C>T,LOW,,,,1;DYSF,synonymous_variant,p.N432N,ENST00000409582,NM_001130981.1&NM_001130977.1,c.1296C>T,LOW,,,,1;DYSF,synonymous_variant,p.N432N,ENST00000413539,NM_001130979.1,c.1296C>T,LOW,,,,1;DYSF,synonymous_variant,p.N401N,ENST00000429174,NM_001130978.1,c.1203C>T,LOW,,,,1;DYSF,synonymous_variant,p.N432N,ENST00000409762,NM_001130980.1,c.1296C>T,LOW,,,,1;DYSF,synonymous_variant,p.N433N,ENST00000410020,NM_001130987.1,c.1299C>T,LOW,YES,,,1;DYSF,synonymous_variant,p.N433N,ENST00000409651,NM_001130982.1,c.1299C>T,LOW,,,,1;DYSF,synonymous_variant,p.N402N,ENST00000409366,NM_001130983.1,c.1206C>T,LOW,,,,1;DYSF,synonymous_variant,p.N433N,ENST00000410041,NM_001130985.1,c.1299C>T,LOW,,,,1;DYSF,synonymous_variant,p.N402N,ENST00000409744,NM_001130984.1&NM_001130986.1,c.1206C>T,LOW,,,,1;DYSF,synonymous_variant,p.N402N,ENST00000394120,NM_001130455.1,c.1206C>T,LOW,,,,1	T	ENST00000258104	Transcript	synonymous_variant	synonymous_variant	1480/6796	1203/6243	401/2080	N	aaC/aaT	rs757047049	1		1	DYSF	HGNC	HGNC:3097	protein_coding		CCDS1918.1	ENSP00000258104	O75923		UPI0000129A56	NM_003494.3;NM_001130976.1			13/55		Pfam_domain:PF00168;PROSITE_profiles:PS50004;SMART_domains:SM00239;Superfamily_domains:SSF49562																	LOW		SNV	1			1	8.236e-06	8.529e-06	0	0	0	0	1.533e-05	0	0		PASS	GACAACGTGAA	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	2	4	51	71528320	71528320	C	T	1	0	0	0	0	0	0	0	1	4683	535	19	1		1	DYSF	2	71528320	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	27184382	71528320	170665209	5	754											
RAB11FIP5	26056	BI	GRCh38	chr2	73088961	73088961	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggtaggccaagctcccGctggctgaggacagggtgct	15	13	0	1	rs774431399	byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.786C>T	p.=	p.S262S	ENST00000258098	2/5	55	46	9	54			RAB11FIP5,synonymous_variant,p.S262S,ENST00000258098,NM_015470.2,c.786C>T,LOW,YES,,,-1;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000493523,,n.695C>T,MODIFIER,,,,-1;RAB11FIP5,non_coding_transcript_exon_variant,,ENST00000475951,,n.439C>T,MODIFIER,,,,-1;RAB11FIP5,upstream_gene_variant,,ENST00000482554,,,MODIFIER,,,,-1;RAB11FIP5,upstream_gene_variant,,ENST00000479196,,,MODIFIER,,,,-1	A	ENST00000258098	Transcript	synonymous_variant	synonymous_variant	1027/4342	786/1962	262/653	S	agC/agT	rs774431399	1		-1	RAB11FIP5	HGNC	HGNC:24845	protein_coding	YES	CCDS1923.1	ENSP00000258098	Q9BXF6			NM_015470.2			2/5		Low_complexity_(Seg):Seg																	LOW	1	SNV	1			1	3.295e-05	3.349e-05	0	0	0.0002316	0	0	0	0.0001275		PASS	CTCCCGCTGGC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	A	2	1	51	73088961	73088961	G	A	1	0	0	0	0	0	0	0	1	13055	1078	38	2		2	RAB11FIP5	2	73088961	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08	1560641	73088961	169104568	6	755											
MAP3K19	80122	BI	GRCh38	chr2	134980903	134980903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagccctcggtgtgctcCgatgtaaaacatggcggcca	11	13	1	0	rs779120521		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.3838G>A	p.Gly1280Arg	p.G1280R	ENST00000375845	9/10	44	38	6	36			MAP3K19,missense_variant,p.G1280R,ENST00000375845,NM_025052.4,c.3838G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;MAP3K19,missense_variant,p.G1167R,ENST00000358371,NM_001018044.2,c.3499G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;MAP3K19,missense_variant,p.G670R,ENST00000437365,,c.2008G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;MAP3K19,missense_variant,p.G412R,ENST00000392917,NM_001282883.1,c.1234G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;MAP3K19,missense_variant,p.G462R,ENST00000375844,NM_001018046.2,c.1384G>A,MODERATE,,deleterious(0),probably_damaging(0.98),-1;MAP3K19,missense_variant,p.G414R,ENST00000392918,NM_001018047.2,c.1240G>A,MODERATE,,deleterious(0),probably_damaging(0.991),-1;MAP3K19,3_prime_UTR_variant,,ENST00000392915,,c.*582G>A,MODIFIER,,,,-1;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,,n.916G>A,MODIFIER,,,,-1	T	ENST00000375845	Transcript	missense_variant	missense_variant	3869/4377	3838/3987	1280/1328	G/R	Gga/Aga	rs779120521	1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000365005	Q56UN5		UPI00004F77F2	NM_025052.4	deleterious(0)	probably_damaging(1)	9/10		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1	8.236e-06	8.247e-06	0	0	0	0	0	0	6.062e-05		PASS	TGCTCCGATGT	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	3	4	51	134980903	134980903	C	T	1	0	0	0	0	1	0	0	0	9172	661	23	2		2	MAP3K19	2	134980903	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	61891942	134980903	107212626	7	756											
TTN	7273	BI	GRCh38	chr2	178718746	178718746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgccagcatcatttgtaaCgaggcaagaatagtctccac	8	11	2	1	rs397517507	byCluster;byFrequency	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.23503G>A	p.Val7835Ile	p.V7835I	ENST00000591111	82/313	59	47	12	87			TTN,missense_variant,p.V8152I,ENST00000589042,NM_001267550.1,c.24454G>A,MODERATE,YES,,,-1;TTN,missense_variant,p.V7835I,ENST00000591111,,c.23503G>A,MODERATE,,,,-1;TTN,missense_variant,p.V7835I,ENST00000615779,NM_001256850.1,c.23503G>A,MODERATE,,,,-1;TTN,missense_variant,p.V6908I,ENST00000342992,NM_133378.4,c.20722G>A,MODERATE,,,,-1;TTN,intron_variant,,ENST00000342175,NM_133437.3,c.13858+19336G>A,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000359218,NM_133432.3,c.13657+19336G>A,MODIFIER,,,,-1;TTN,intron_variant,,ENST00000460472,NM_003319.4,c.13282+19336G>A,MODIFIER,,,,-1;TTN-AS1,intron_variant,,ENST00000585451,,n.199-42194C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.136-15758C>T,MODIFIER,,,,1;RP11-171I2.1,upstream_gene_variant,,ENST00000590024,,,MODIFIER,YES,,,1;TTN-AS1,downstream_gene_variant,,ENST00000625536,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000592630,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000431752,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000626117,,,MODIFIER,,,,1;TTN-AS1,downstream_gene_variant,,ENST00000589830,,,MODIFIER,,,,1	T	ENST00000591111	Transcript	missense_variant	missense_variant	23728/104301	23503/103053	7835/34350	V/I	Gtt/Att	rs397517507	1		-1	TTN	HGNC	HGNC:12403	protein_coding			ENSP00000465570	Q8WZ42		UPI00025287CD				82/313		Pfam_domain:PF07679;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726;Superfamily_domains:SSF88633;Superfamily_domains:SSF50729;Superfamily_domains:SSF53300;Superfamily_domains:SSF53098;Superfamily_domains:SSF53300;Superfamily_domains:SSF88633;Superfamily_domains:SSF48452;Superfamily_domains:SSF53474;Superfamily_domains:SSF52540										uncertain_significance;not_provided							MODERATE		SNV	5		1	1	4.135e-05	4.147e-05	0	0	0.0002324	0	1.501e-05	0	0.0001212		PASS	TGTAACGAGGC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48		COSM3837900;COSM3837901	True	Unknown	T	3	4	51	178718746	178718746	C	T	1	0	0	0	0	1	0	0	0	17245	536	19	1		1	TTN	2	178718746	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	43737843	178718746	63474783	8	757											
ZNF197	10168	BI	GRCh38	chr3	44629167	44629167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacaatgacaagagaaAatgtagcccacaatgctctg	7	9	1	2	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.13A>G	p.Asn5Asp	p.N5D	ENST00000344387	2/6	65	49	16	107			ZNF197,missense_variant,p.N5D,ENST00000396058,,c.13A>G,MODERATE,YES,tolerated_low_confidence(0.06),benign(0.037),1;ZNF197,missense_variant,p.N5D,ENST00000344387,NM_006991.3,c.13A>G,MODERATE,,tolerated_low_confidence(0.06),benign(0.037),1;ZNF197,missense_variant,p.N5D,ENST00000383745,NM_001024855.1,c.13A>G,MODERATE,,deleterious_low_confidence(0.03),benign(0.054),1;ZNF197,missense_variant,p.N5D,ENST00000383744,,c.13A>G,MODERATE,,deleterious_low_confidence(0.03),benign(0.054),1;ZNF197,missense_variant,p.N5D,ENST00000412641,,c.13A>G,MODERATE,,,,1;AC099669.1,upstream_gene_variant,,ENST00000625541,,,MODIFIER,YES,,,1;RP11-944L7.4,intron_variant,,ENST00000457331,,n.220+32095T>C,MODIFIER,YES,,,-1;ZNF197-AS1,upstream_gene_variant,,ENST00000447691,,,MODIFIER,YES,,,-1;ZNF197,missense_variant,p.N5D,ENST00000334075,,c.13A>G,MODERATE,,tolerated_low_confidence(0.13),benign(0.116),1	G	ENST00000344387	Transcript	missense_variant	missense_variant	198/3275	13/3090	5/1029	N/D	Aat/Gat		1		1	ZNF197	HGNC	HGNC:12988	protein_coding		CCDS2717.1	ENSP00000345809	O14709		UPI000013C317	NM_006991.3	tolerated_low_confidence(0.06)	benign(0.037)	2/6																			MODERATE		SNV	1			1											PASS	GAGAAAATGTA	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	G	3	3	51	44629167	44629167	A	G	1	0	0	0	0	1	0	0	0	18336	14	1	4		4	ZNF197	3	44629167	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		44629167	153666392	9	758											
MROH2B	133558	BI	GRCh38	chr5	41039464	41039464	+	Frame_Shift_Del	DEL	A	A	-													ttaccttacatcgattcatgAaaaacttttcctgattttgg					novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.2045delT	p.Phe682SerfsTer2	p.F682Sfs*2	ENST00000399564	20/42	11	7	4	12			MROH2B,frameshift_variant,p.F682Sfs*2,ENST00000399564,NM_173489.4,c.2045delT,HIGH,YES,,,-1;MROH2B,frameshift_variant,p.F237Sfs*2,ENST00000506092,,c.710delT,HIGH,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000515297,,n.1433delT,MODIFIER,,,,-1;MROH2B,non_coding_transcript_exon_variant,,ENST00000503890,,n.1007delT,MODIFIER,,,,-1	-	ENST00000399564	Transcript	frameshift_variant	frameshift_variant	2496/5239	2045/4758	682/1585	F/X	tTc/tc		1		-1	MROH2B	HGNC	HGNC:26857	protein_coding	YES	CCDS47202.1	ENSP00000382476	Q7Z745		UPI000020CA04	NM_173489.4			20/42		Superfamily_domains:SSF48371																	HIGH	1	deletion	1			1											PASS	TTCATGAAAAAC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			False	Unknown	-	7	5	51	41039464	41039464	A	-	1	0	1	0	1	0	0	0	0	9745	246	9	0		0	MROH2B	5	41039464	Frame_Shift_Del	DEL	A	TCGA-VD-A8KM-01A-11D-A39W-08		41039464	140498795	10	759											
MCHR2	84539	BI	GRCh38	chr6	99921201	99921201	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaagactaccaccagcacCagcaccatctttgtcaactt	4	14	2	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.762G>A	p.=	p.L254L	ENST00000281806	6/6	89	73	16	113			MCHR2,synonymous_variant,p.L254L,ENST00000281806,NM_001040179.1,c.762G>A,LOW,YES,,,-1;MCHR2,synonymous_variant,p.L254L,ENST00000369212,NM_032503.2,c.762G>A,LOW,,,,-1	T	ENST00000281806	Transcript	synonymous_variant	synonymous_variant	1077/2368	762/1023	254/340	L	ctG/ctA		1		-1	MCHR2	HGNC	HGNC:20867	protein_coding	YES	CCDS5044.1	ENSP00000281806	Q969V1		UPI000003730F	NM_001040179.1			6/6		Low_complexity_(Seg):Seg;Pfam_domain:PF00001;Pfam_domain:PF10323;Pfam_domain:PF10320;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV	2			1											PASS	AGCACCAGCAC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	2	4	51	99921201	99921201	C	T	1	0	0	0	0	0	0	0	1	9314	581	21	3		3	MCHR2	6	99921201	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		99921201	70884778	11	760											
AKAP9	10142	BI	GRCh38	chr7	92029944	92029944	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aatctgatgcacagagaacaAtgtaccctggaagttgtgtg	11	7	1	2	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.4198A>G	p.Met1400Val	p.M1400V	ENST00000356239	15/50	85	68	17	104			AKAP9,missense_variant,p.M1400V,ENST00000356239,NM_005751.4&NM_147185.2,c.4198A>G,MODERATE,YES,,benign(0),1;AKAP9,missense_variant,p.M1411V,ENST00000359028,,c.4231A>G,MODERATE,,,benign(0),1;AKAP9,missense_variant,p.M1400V,ENST00000358100,,c.4198A>G,MODERATE,,,benign(0.025),1;AKAP9,missense_variant,p.M1408V,ENST00000619023,,c.4222A>G,MODERATE,,tolerated(1),benign(0.001),1;AKAP9,non_coding_transcript_exon_variant,,ENST00000493453,,n.4418A>G,MODIFIER,,,,1	G	ENST00000356239	Transcript	missense_variant	missense_variant	4431/12471	4198/11724	1400/3907	M/V	Atg/Gtg		1		1	AKAP9	HGNC	HGNC:379	protein_coding	YES	CCDS5622.1	ENSP00000348573	Q99996		UPI000002A38D	NM_005751.4;NM_147185.2		benign(0)	15/50																			MODERATE	1	SNV	1			1											PASS	GAACAATGTAC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	G	3	3	51	92029944	92029944	A	G	1	0	0	0	0	1	0	0	0	543	101	4	4		4	AKAP9	7	92029944	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		92029944	67316029	12	761											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	80	63	17	86			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48		COSM28758	True	Unknown	G	3	3	51	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KM-01A-11D-A39W-08		77794572	60600145	13	762											
AGAP9	642517	BI	GRCh38	chr10	47502694	47502694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctcacagtccacacAgtgggcgttcccacgcatgt	11	14	1	0	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1570T>C	p.Cys524Arg	p.C524R	ENST00000413193	8/8	347	310	37	539			AGAP9,missense_variant,p.C524R,ENST00000413193,,c.1570T>C,MODERATE,,deleterious_low_confidence(0),unknown(0),-1;AGAP9,missense_variant,p.C479R,ENST00000452145,NM_001190810.1,c.1435T>C,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;RP11-144G6.4,downstream_gene_variant,,ENST00000434533,,,MODIFIER,YES,,,1	G	ENST00000413193	Transcript	missense_variant	missense_variant	1570/2410	1570/2112	524/703	C/R	Tgt/Cgt		1		-1	AGAP9	HGNC	HGNC:23463	protein_coding			ENSP00000407436	Q5VTM2		UPI0000F6E72B		deleterious_low_confidence(0)	unknown(0)	8/8		Pfam_domain:PF01412;Prints_domain:PR00405;PROSITE_profiles:PS50115;SMART_domains:SM00105;Superfamily_domains:SSF57863																	MODERATE		SNV	5			1											PASS	CACACAGTGGG	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			False	Unknown	G	3	3	51	47502694	47502694	A	G	1	0	0	0	0	1	0	0	0	450	188	7	4		4	AGAP9	10	47502694	Missense_Mutation	SNP	A	TCGA-VD-A8KM-01A-11D-A39W-08		47502694	86294728	14	763											
ITPR2	3709	BI	GRCh38	chr12	26790185	26790185	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgggagggttggcaagGtccccggcctctgggtgcac	16	11	2	0	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.135C>T	p.=	p.D45D	ENST00000381340	2/57	79	60	19	94			ITPR2,synonymous_variant,p.D45D,ENST00000381340,NM_002223.2,c.135C>T,LOW,YES,,,-1;ITPR2,synonymous_variant,p.D45D,ENST00000242737,,c.135C>T,LOW,,,,-1;ITPR2,intron_variant,,ENST00000545235,,c.92+42505C>T,MODIFIER,,,,-1	A	ENST00000381340	Transcript	synonymous_variant	synonymous_variant	552/11405	135/8106	45/2701	D	gaC/gaT		1		-1	ITPR2	HGNC	HGNC:6181	protein_coding	YES	CCDS41764.1	ENSP00000370744	Q14571		UPI00001FB7D2	NM_002223.2			2/57		Pfam_domain:PF08709																	LOW	1	SNV	1			1											PASS	GCAAGGTCCCC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	A	2	1	51	26790185	26790185	G	A	1	0	0	0	0	0	0	0	1	7827	1252	44	3		3	ITPR2	12	26790185	Silent	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		26790185	106485124	15	764											
NCOR2	9612	BI	GRCh38	chr12	124402437	124402440	+	Frame_Shift_Del	DEL	GGCT	GGCT	-													ccttgtcgttctccacctccGgcttctcctcctccttctcc					novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1604_1607delAGCC	p.Lys535ArgfsTer74	p.K535Rfs*74	ENST00000405201	14/47	34	31	3	54			NCOR2,frameshift_variant,p.K535Rfs*74,ENST00000405201,NM_006312.5,c.1604_1607delAGCC,HIGH,YES,,,-1;NCOR2,frameshift_variant,p.K534Rfs*74,ENST00000404621,NM_001077261.3,c.1601_1604delAGCC,HIGH,,,,-1;NCOR2,frameshift_variant,p.K534Rfs*74,ENST00000429285,NM_001206654.1,c.1601_1604delAGCC,HIGH,,,,-1;NCOR2,frameshift_variant,p.K92Rfs*74,ENST00000356219,,c.275_278delAGCC,HIGH,,,,-1;NCOR2,frameshift_variant,p.K92Rfs*74,ENST00000404121,,c.275_278delAGCC,HIGH,,,,-1;NCOR2,frameshift_variant,p.K535Rfs*74,ENST00000458234,,c.1604_1607delAGCC,HIGH,,,,-1	-	ENST00000405201	Transcript	frameshift_variant	frameshift_variant	1605-1608/8533	1604-1607/7545	535-536/2514	KP/X	aAGCCg/ag		1		-1	NCOR2	HGNC	HGNC:7673	protein_coding	YES	CCDS41858.2	ENSP00000384018		C9JFD3	UPI000013D737	NM_006312.5			14/47		Low_complexity_(Seg):Seg;Coiled-coils_(Ncoils):ncoils																	HIGH	1	deletion	1			1											PASS	ACCTCCGGCTTCTCC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			False	Unknown	-	7	5	51	124402437	124402437	GGCT	-	1	0	1	0	1	0	0	0	0	10255	1116	39	0		0	NCOR2	12	124402437	Frame_Shift_Del	DEL	GGCT	TCGA-VD-A8KM-01A-11D-A39W-08	97612252	124402437	8872872	16	765											
WDR25	79446	BI	GRCh38	chr14	100529915	100529915	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgatgtacagcttccgCacagccagccgagcatgcac	10	15	0	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1509C>T	p.=	p.R503R	ENST00000335290	7/7	78	63	15	89			WDR25,synonymous_variant,p.R503R,ENST00000335290,NM_024515.4,c.1509C>T,LOW,YES,,,1;WDR25,synonymous_variant,p.R503R,ENST00000402312,NM_001161476.1,c.1509C>T,LOW,,,,1;WDR25,synonymous_variant,p.R503R,ENST00000554998,,c.1509C>T,LOW,,,,1;WDR25,synonymous_variant,p.R246R,ENST00000542471,,c.738C>T,LOW,,,,1;WDR25,downstream_gene_variant,,ENST00000555201,,,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000557502,,n.697C>T,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000555865,,n.647C>T,MODIFIER,,,,1;WDR25,downstream_gene_variant,,ENST00000555775,,,MODIFIER,,,,1;WDR25,downstream_gene_variant,,ENST00000554492,,,MODIFIER,,,,1;WDR25,3_prime_UTR_variant,,ENST00000557710,,c.*491C>T,MODIFIER,,,,1	T	ENST00000335290	Transcript	synonymous_variant	synonymous_variant	1735/2123	1509/1635	503/544	R	cgC/cgT		1		1	WDR25	HGNC	HGNC:21064	protein_coding	YES	CCDS32157.1	ENSP00000334148	Q64LD2		UPI0000D4CFD0	NM_024515.4			7/7		PROSITE_profiles:PS50294;Superfamily_domains:SSF50978																	LOW	1	SNV	1			1											PASS	TTCCGCACAGC	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	2	4	51	100529915	100529915	C	T	1	0	0	0	0	0	0	0	1	17842	697	25	3		3	WDR25	14	100529915	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		100529915	6513803	17	766											
DTNA	1837	BI	GRCh38	chr18	34879720	34879720	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtaccatgcgtggcgacatGtgagtatcttccgcttggaa	12	9	1	1			TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.2081+1G>A		p.X694_splice	ENST00000399113		46	37	9	43			DTNA,splice_donor_variant,p.X637_splice,ENST00000283365,NM_032975.3,c.1910+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X641_splice,ENST00000399121,NM_001198939.1,c.1922+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X694_splice,ENST00000444659,NM_001390.4,c.2081+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X634_splice,ENST00000595022,NM_001198940.1,c.1901+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X634_splice,ENST00000598334,NM_001198938.1,c.1901+1G>A,HIGH,YES,,,1;DTNA,splice_donor_variant,p.X637_splice,ENST00000598142,,c.1910+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X694_splice,ENST00000399113,,c.2081+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X403_splice,ENST00000269192,NM_001198942.1,c.1208+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X316_splice,ENST00000601125,NM_001198943.1,c.947+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X342_splice,ENST00000591182,NM_032980.3,c.1025+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X346_splice,ENST00000556414,NM_001198944.1,c.1037+1G>A,HIGH,,,,1;DTNA,splice_donor_variant,p.X120_splice,ENST00000590831,,c.359+1G>A,HIGH,,,,1;DTNA,upstream_gene_variant,,ENST00000592449,,,MODIFIER,,,,1	A	ENST00000399113	Transcript	splice_donor_variant	splice_donor_variant	-/2232	2081/2232	694/743				1		1	DTNA	HGNC	HGNC:3057	protein_coding			ENSP00000382064	Q9Y4J8							19/20																		HIGH		SNV	5			1											PASS	GACATGTGAGT	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48	NonExonic	COSM399776;COSM399777;COSM399778	True	Unknown	A	5	1	51	34879720	34879720	G	A	1	0	0	0	0	0	0	1	0	4611	1391	48	3		3	DTNA	18	34879720	Splice_Site	SNP	G	TCGA-VD-A8KM-01A-11D-A39W-08		34879720	45493565	18	767											
BPIFB1	92747	BI	GRCh38	chr20	33303055	33303055	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgaagccctccgccCtttgttcaccctgggcatcg	9	17	1	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1121C>T	p.Pro374Leu	p.P374L	ENST00000253354	11/16	90	86	4	90			BPIFB1,missense_variant,p.P374L,ENST00000253354,NM_033197.2,c.1121C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;BPIFB1,non_coding_transcript_exon_variant,,ENST00000464032,,n.883C>T,MODIFIER,,,,1	T	ENST00000253354	Transcript	missense_variant	missense_variant	1282/1727	1121/1455	374/484	P/L	cCt/cTt		1		1	BPIFB1	HGNC	HGNC:16108	protein_coding	YES	CCDS13218.1	ENSP00000253354	Q8TDL5		UPI000006EEF9	NM_033197.2	deleterious(0)	probably_damaging(1)	11/16		Pfam_domain:PF02886;Superfamily_domains:SSF55394;PIRSF_domain:PIRSF037186																	MODERATE	1	SNV	1			1											PASS	CCGCCCTTTGT	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	3	4	51	33303055	33303055	C	T	1	0	0	0	0	1	0	0	0	1657	681	24	3		3	BPIFB1	20	33303055	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		33303055	31141112	19	768											
GDAP1L1	78997	BI	GRCh38	chr20	44279273	44279273	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggatgggctactttgcctaCtggtacctcaagaaaaaata	10	8	1	1	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.1077C>T	p.=	p.Y359Y	ENST00000342560	6/6	98	80	18	120			GDAP1L1,synonymous_variant,p.Y378Y,ENST00000537864,NM_001256737.1,c.1134C>T,LOW,YES,,,1;GDAP1L1,synonymous_variant,p.Y270Y,ENST00000617075,NM_001256738.1,c.810C>T,LOW,,,,1;GDAP1L1,synonymous_variant,p.Y288Y,ENST00000612599,NM_001256740.1,c.864C>T,LOW,,,,1;GDAP1L1,synonymous_variant,p.Y359Y,ENST00000342560,NM_024034.4,c.1077C>T,LOW,,,,1;GDAP1L1,synonymous_variant,p.Y356Y,ENST00000616372,,c.1068C>T,LOW,,,,1;GDAP1L1,intron_variant,,ENST00000447658,,c.285+138C>T,MODIFIER,,,,1;GDAP1L1,downstream_gene_variant,,ENST00000438466,NM_001256739.1,,MODIFIER,,,,1	T	ENST00000342560	Transcript	synonymous_variant	synonymous_variant	1165/2265	1077/1104	359/367	Y	taC/taT		1		1	GDAP1L1	HGNC	HGNC:4213	protein_coding		CCDS13328.1	ENSP00000341782	Q96MZ0			NM_024034.4			6/6		Transmembrane_helices:Tmhmm																	LOW		SNV	1			1											PASS	GCCTACTGGTA	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	T	2	4	51	44279273	44279273	C	T	1	0	0	0	0	0	0	0	1	6180	576	20	3		3	GDAP1L1	20	44279273	Silent	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08	10976218	44279273	20164894	20	769											
RPS6KA6	27330	BI	GRCh38	chrX	84119907	84119907	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	taagaacaccatatgaccacCaatcagcactctgggaatgg	8	11	2	2	novel		TCGA-VD-A8KM-01A-11D-A39W-08	TCGA-VD-A8KM-10C-01D-A39Z-08									Somatic						Illumina HiSeq 2000	8a1eb383-03e8-42c0-bc1c-76aaaa5c3f87	69d4c72c-6b83-40c1-8a5e-c1fa9cb07f1e	c.767G>C	p.Trp256Ser	p.W256S	ENST00000262752	9/22	62	36	26	84			RPS6KA6,missense_variant,p.W256S,ENST00000620340,,c.767G>C,MODERATE,,deleterious(0),probably_damaging(1),-1;RPS6KA6,missense_variant,p.W256S,ENST00000262752,NM_014496.4,c.767G>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1	G	ENST00000262752	Transcript	missense_variant	missense_variant	775/2547	767/2238	256/745	W/S	tGg/tCg		1		-1	RPS6KA6	HGNC	HGNC:10435	protein_coding	YES	CCDS14451.1	ENSP00000262752	Q9UK32		UPI0000035B52	NM_014496.4	deleterious(0)	probably_damaging(1)	9/22		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112;PIRSF_domain:PIRSF000606																	MODERATE	1	SNV	1			1											PASS	ACCACCAATCA	c8118eee-693e-464c-893b-90e8574e44bb	9ecb6489-6c4c-499f-8afb-db1ef503d596	2dc20e0f-6bef-43c5-90f9-154e8a8cf636	1a2ce30c-5891-4bf6-8c97-6d1f34d4fe48			True	Unknown	G	3	3	51	84119907	84119907	C	G	1	0	0	0	0	1	0	0	0	13910	595	21	5		5	RPS6KA6	23	84119907	Missense_Mutation	SNP	C	TCGA-VD-A8KM-01A-11D-A39W-08		84119907	71920988	21	770											
LRRC42	115353	BI	GRCh38	chr1	53960365	53960365	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttccctagtgtaactcaGctccacctgaaggataattg	8	10	1	1	novel		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.615G>A	p.=	p.Q205Q	ENST00000319223	4/8	72	41	31	75			LRRC42,synonymous_variant,p.Q205Q,ENST00000371370,NM_001256409.1,c.615G>A,LOW,YES,,,1;LRRC42,synonymous_variant,p.Q205Q,ENST00000319223,NM_052940.4,c.615G>A,LOW,,,,1;LRRC42,synonymous_variant,p.Q205Q,ENST00000444987,,c.615G>A,LOW,,,,1;LRRC42,downstream_gene_variant,,ENST00000371368,,,MODIFIER,,,,1;LRRC42,upstream_gene_variant,,ENST00000477905,,,MODIFIER,,,,1	A	ENST00000319223	Transcript	synonymous_variant	synonymous_variant	826/1727	615/1287	205/428	Q	caG/caA		1		1	LRRC42	HGNC	HGNC:28792	protein_coding		CCDS585.1	ENSP00000318185	Q9Y546		UPI0000073684	NM_052940.4			4/8		Superfamily_domains:SSF52047																	LOW		SNV	1			1											PASS	ACTCAGCTCCA	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	A	2	1	52	53960365	53960365	G	A	1	0	0	0	0	0	0	0	1	8896	962	34	3		3	LRRC42	1	53960365	Silent	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		53960365	194996057	1	771											
IVL	3713	BI	GRCh38	chr1	152911420	152911420	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaaggggcagctggaGcagcctgtgtttgccccagc	15	12	0	1	novel		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.1623G>C	p.Glu541Asp	p.E541D	ENST00000368764	2/2	12	4	8	37			IVL,missense_variant,p.E541D,ENST00000368764,NM_005547.2,c.1623G>C,MODERATE,YES,deleterious_low_confidence(0.03),benign(0.038),1	C	ENST00000368764	Transcript	missense_variant	missense_variant	1687/2153	1623/1758	541/585	E/D	gaG/gaC		1		1	IVL	HGNC	HGNC:6187	protein_coding	YES	CCDS1030.1	ENSP00000357753	P07476		UPI000013E24A	NM_005547.2	deleterious_low_confidence(0.03)	benign(0.038)	2/2		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00904;PROSITE_profiles:PS50322																	MODERATE	1	SNV	2			1											PASS	CTGGAGCAGCC	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	C	3	2	52	152911420	152911420	G	C	1	0	0	0	0	1	0	0	0	7835	962	34	5		5	IVL	1	152911420	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08	98951055	152911420	96045002	2	772											
FAM71A	149647	BI	GRCh38	chr1	212625400	212625400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaactaatttacctcttgCggccacccatggagagtaac	7	11	1	1	rs528047581	by1000G	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.523C>T	p.Arg175Trp	p.R175W	ENST00000294829	1/1	171	100	71	170			FAM71A,missense_variant,p.R175W,ENST00000294829,NM_153606.3,c.523C>T,MODERATE,YES,deleterious(0),benign(0.098),1;ATF3,downstream_gene_variant,,ENST00000341491,NM_001674.3,,MODIFIER,YES,,,1;ATF3,downstream_gene_variant,,ENST00000613954,NM_001206488.2&NM_001206484.2,,MODIFIER,,,,1;ATF3,downstream_gene_variant,,ENST00000366987,NM_001030287.3,,MODIFIER,,,,1;RP11-338C15.5,non_coding_transcript_exon_variant,,ENST00000427949,,n.1372G>A,MODIFIER,YES,,,-1;ATF3,downstream_gene_variant,,ENST00000492118,,,MODIFIER,,,,1	T	ENST00000294829	Transcript	missense_variant	missense_variant	927/2305	523/1785	175/594	R/W	Cgg/Tgg	rs528047581	1		1	FAM71A	HGNC	HGNC:26541	protein_coding	YES	CCDS1507.1	ENSP00000294829	Q8IYT1		UPI000013E1C2	NM_153606.3	deleterious(0)	benign(0.098)	1/1		Pfam_domain:PF12480	2e-04	0	0		0	0	0.001										MODERATE		SNV				1	4.118e-05	4.127e-05	0	8.639e-05	0	0	0	0	0.0002422		PASS	TCTTGCGGCCA	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	T	3	4	52	212625400	212625400	C	T	1	0	0	0	0	1	0	0	0	5471	759	27	2		2	FAM71A	1	212625400	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	59713980	212625400	36331022	3	773											
OR2L2	26246	BI	GRCh38	chr1	248038474	248038474	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agtcagctctccctcattgaCctaaattacatctccaccat	3	15	4	1	novel		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.207C>G	p.Asp69Glu	p.D69E	ENST00000366479	1/1	126	88	38	190			OR2L2,missense_variant,p.D69E,ENST00000366479,NM_001004686.2,c.207C>G,MODERATE,YES,deleterious(0.01),benign(0.417),1;OR2L13,intron_variant,,ENST00000366478,NM_175911.2,c.-143-60177C>G,MODIFIER,YES,,,1	G	ENST00000366479	Transcript	missense_variant	missense_variant	207/939	207/939	69/312	D/E	gaC/gaG		1		1	OR2L2	HGNC	HGNC:8266	protein_coding	YES	CCDS31103.1	ENSP00000355435	Q8NH16		UPI0000061EAA	NM_001004686.2	deleterious(0.01)	benign(0.417)	1/1		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	ATTGACCTAAA	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	G	3	3	52	248038474	248038474	C	G	1	0	0	0	0	1	0	0	0	11085	506	18	5		5	OR2L2	1	248038474	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08	35413074	248038474	917948	4	774											
OBSL1	23363	BI	GRCh38	chr2	219568076	219568076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgactgtgacgttggccaCggtgcgcacccggccccgca	13	15	0	2	rs371966827	by1000G;byCluster	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.1261G>A	p.Val421Met	p.V421M	ENST00000404537	2/21	96	57	39	115			OBSL1,missense_variant,p.V421M,ENST00000404537,NM_015311.2,c.1261G>A,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;OBSL1,missense_variant,p.V421M,ENST00000603926,NM_001173431.1,c.1261G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;OBSL1,missense_variant,p.V421M,ENST00000373876,,c.1261G>A,MODERATE,,deleterious(0),probably_damaging(0.988),-1;OBSL1,missense_variant,p.V421M,ENST00000373873,NM_001173408.1,c.1261G>A,MODERATE,,deleterious(0),probably_damaging(0.987),-1;OBSL1,missense_variant,p.V8M,ENST00000289656,,c.22G>A,MODERATE,,deleterious(0),probably_damaging(0.939),-1;INHA,upstream_gene_variant,,ENST00000243786,NM_002191.3,,MODIFIER,YES,,,1;INHA,upstream_gene_variant,,ENST00000489456,,,MODIFIER,,,,1;OBSL1,downstream_gene_variant,,ENST00000491370,,,MODIFIER,,,,-1;OBSL1,downstream_gene_variant,,ENST00000465589,,,MODIFIER,,,,-1;OBSL1,non_coding_transcript_exon_variant,,ENST00000465149,,n.768G>A,MODIFIER,,,,-1;OBSL1,upstream_gene_variant,,ENST00000462385,,,MODIFIER,,,,-1	T	ENST00000404537	Transcript	missense_variant	missense_variant	1318/5841	1261/5691	421/1896	V/M	Gtg/Atg	rs371966827	1		-1	OBSL1	HGNC	HGNC:29092	protein_coding	YES	CCDS46520.1	ENSP00000385636	O75147		UPI0000E07EA0	NM_015311.2	deleterious(0)	probably_damaging(0.994)	2/21		PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	GGCCACGGTGC	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	T	3	4	52	219568076	219568076	C	T	1	0	0	0	0	1	0	0	0	10890	536	19	1		1	OBSL1	2	219568076	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		219568076	22625453	5	775											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	88	57	31	82			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3		COSM28758	True	Unknown	G	3	3	52	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KN-01A-11D-A39W-08		77794572	60600145	6	776											
OR4E2	26686	BI	GRCh38	chr14	21666008	21666008	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagacaagtttttttcaCgaaatcatatacataatggg	8	6	2	1	rs376029887	byCluster;byFrequency	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.926C>T	p.Thr309Met	p.T309M	ENST00000408935	1/1	18	13	5	25			OR4E2,missense_variant,p.T309M,ENST00000408935,NM_001001912.1,c.926C>T,MODERATE,YES,tolerated(0.13),benign(0.001),1;OR4E1,downstream_gene_variant,,ENST00000610316,,,MODIFIER,YES,,,-1	T	ENST00000408935	Transcript	missense_variant	missense_variant	926/942	926/942	309/313	T/M	aCg/aTg	rs376029887	1		1	OR4E2	HGNC	HGNC:8297	protein_coding	YES	CCDS41916.1	ENSP00000386195	Q8NGC2		UPI0000EE498D	NM_001001912.1	tolerated(0.13)	benign(0.001)	1/1																			MODERATE	1	SNV				1	5.793e-05	6.081e-05	0	0	0	0	0.0001101	0	0		PASS	TTTCACGAAAT	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3		COSM3401232	True	Unknown	T	3	4	52	21666008	21666008	C	T	1	0	0	0	0	1	0	0	0	11137	536	19	1		1	OR4E2	14	21666008	Missense_Mutation	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		21666008	85377710	7	777											
TLDC1	57707	BI	GRCh38	chr16	84486748	84486748	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgtggccacagagctGggagaagctgtgtccatgga	16	7	0	3	rs755637814	byFrequency	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.841C>T	p.Gln281Ter	p.Q281*	ENST00000343629	5/8	46	30	16	50			TLDC1,stop_gained,p.Q281*,ENST00000343629,NM_020947.3,c.841C>T,HIGH,YES,,,-1;TLDC1,downstream_gene_variant,,ENST00000565079,,,MODIFIER,,,,-1;TLDC1,downstream_gene_variant,,ENST00000561807,,,MODIFIER,,,,-1;TLDC1,3_prime_UTR_variant,,ENST00000566995,,c.*255C>T,MODIFIER,,,,-1;TLDC1,3_prime_UTR_variant,,ENST00000570036,,c.*896C>T,MODIFIER,,,,-1;TLDC1,non_coding_transcript_exon_variant,,ENST00000567321,,n.1689C>T,MODIFIER,,,,-1	A	ENST00000343629	Transcript	stop_gained	stop_gained	1024/5046	841/1371	281/456	Q/*	Cag/Tag	rs755637814	1		-1	TLDC1	HGNC	HGNC:29325	protein_coding	YES	CCDS32498.1	ENSP00000343635	Q6P9B6		UPI00001BBB2E	NM_020947.3			5/8		Pfam_domain:PF07534;SMART_domains:SM00584																	HIGH	1	SNV	1			1	1.647e-05	1.652e-05	0	0	0	0	1.503e-05	0	6.061e-05		PASS	GAGCTGGGAGA	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	A	4	1	52	84486748	84486748	G	A	1	0	0	0	0	0	1	0	0	16382	1357	47	3		3	TLDC1	16	84486748	Nonsense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		84486748	5851597	8	778											
MINK1	50488	BI	GRCh38	chr17	4895104	4895104	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggagagggcactcggctcGaccagctgcagtacgacgtg	16	11	0	1	rs755386461	byFrequency	TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.2947G>A	p.Asp983Asn	p.D983N	ENST00000355280	25/32	140	84	56	183			MINK1,missense_variant,p.D983N,ENST00000355280,NM_015716.4&NM_153827.4,c.2947G>A,MODERATE,YES,deleterious(0.02),benign(0.049),1;MINK1,missense_variant,p.D954N,ENST00000347992,NM_170663.4,c.2860G>A,MODERATE,,deleterious(0.02),benign(0.165),1;MINK1,missense_variant,p.D963N,ENST00000453408,NM_001024937.3,c.2887G>A,MODERATE,,deleterious(0.02),benign(0.1),1;C17orf107,upstream_gene_variant,,ENST00000381365,NM_001145536.1,,MODIFIER,YES,,,1;CHRNE,downstream_gene_variant,,ENST00000293780,NM_000080.3,,MODIFIER,YES,,,-1;C17orf107,upstream_gene_variant,,ENST00000521575,,,MODIFIER,,,,1;MINK1,upstream_gene_variant,,ENST00000576037,,,MODIFIER,,,,1;MINK1,3_prime_UTR_variant,,ENST00000574453,,c.*2616G>A,MODIFIER,,,,1;MINK1,3_prime_UTR_variant,,ENST00000571207,,c.*1598G>A,MODIFIER,,,,1;MINK1,non_coding_transcript_exon_variant,,ENST00000572330,,n.3729G>A,MODIFIER,,,,1;MINK1,non_coding_transcript_exon_variant,,ENST00000574871,,n.561G>A,MODIFIER,,,,1;MINK1,non_coding_transcript_exon_variant,,ENST00000575511,,n.247G>A,MODIFIER,,,,1;CHRNE,downstream_gene_variant,,ENST00000572438,,,MODIFIER,,,,-1;MINK1,downstream_gene_variant,,ENST00000572629,,,MODIFIER,,,,1;MINK1,downstream_gene_variant,,ENST00000572304,,,MODIFIER,,,,1;MINK1,downstream_gene_variant,,ENST00000571526,,,MODIFIER,,,,1	A	ENST00000355280	Transcript	missense_variant	missense_variant	3143/4961	2947/3999	983/1332	D/N	Gac/Aac	rs755386461	1		1	MINK1	HGNC	HGNC:17565	protein_coding	YES	CCDS45588.1	ENSP00000347427	Q8N4C8		UPI00001678BB	NM_015716.4;NM_153827.4	deleterious(0.02)	benign(0.049)	25/32																			MODERATE	1	SNV	1			1	4.96e-05	5.018e-05	0.0001046	0	0	0	0	0	0.000303		PASS	GGCTCGACCAG	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			True	Unknown	A	3	1	52	4895104	4895104	G	A	1	0	0	0	0	1	0	0	0	9551	1058	37	2		2	MINK1	17	4895104	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		4895104	78362337	9	779											
PRKCG	5582	BI	GRCh38	chr19	53889705	53889705	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caccttctgcgaccactgtgGctccctcctctacgggcttg	9	17	2	0	novel		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.353G>C	p.Gly118Ala	p.G118A	ENST00000263431	4/18	43	40	3	45			PRKCG,missense_variant,p.G118A,ENST00000263431,NM_002739.3,c.353G>C,MODERATE,YES,deleterious(0),probably_damaging(0.936),1;PRKCG,5_prime_UTR_variant,,ENST00000474397,,c.-32G>C,MODIFIER,,,,1;PRKCG,5_prime_UTR_variant,,ENST00000479081,,c.-32G>C,MODIFIER,,,,1;PRKCG,5_prime_UTR_variant,,ENST00000419486,,c.-32G>C,MODIFIER,,,,1	C	ENST00000263431	Transcript	missense_variant	missense_variant	635/3133	353/2094	118/697	G/A	gGc/gCc		1		1	PRKCG	HGNC	HGNC:9402	protein_coding	YES	CCDS12867.1	ENSP00000263431	P05129		UPI000000DC69	NM_002739.3	deleterious(0)	probably_damaging(0.936)	4/18		Pfam_domain:PF00130;PROSITE_profiles:PS50081;SMART_domains:SM00109;Superfamily_domains:SSF57889;PIRSF_domain:PIRSF000550																	MODERATE	1	SNV	1			1											PASS	CTGTGGCTCCC	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			False	Unknown	C	3	2	52	53889705	53889705	G	C	1	0	0	0	0	1	0	0	0	12645	1203	42	5		5	PRKCG	19	53889705	Missense_Mutation	SNP	G	TCGA-VD-A8KN-01A-11D-A39W-08		53889705	4727911	10	780											
PPIL2	23759	BI	GRCh38	chr22	21684812	21684812	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacaaatgccgagaccCgagagaccctgcaggagctc	10	12	0	2	novel		TCGA-VD-A8KN-01A-11D-A39W-08	TCGA-VD-A8KN-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6723c159-82da-425d-9dee-4682a5d82ba2	cd2ffb2b-44a4-4a4e-93f6-33dbd404cc2e	c.613C>A	p.=	p.R205R	ENST00000335025	10/21	46	43	3	59			PPIL2,synonymous_variant,p.R205R,ENST00000335025,NM_148175.2,c.613C>A,LOW,YES,,,1;PPIL2,synonymous_variant,p.R205R,ENST00000406385,NM_014337.3,c.613C>A,LOW,,,,1;PPIL2,synonymous_variant,p.R205R,ENST00000626352,NM_148176.2,c.613C>A,LOW,,,,1;PPIL2,synonymous_variant,p.R205R,ENST00000398831,,c.613C>A,LOW,,,,1;PPIL2,downstream_gene_variant,,ENST00000458567,,,MODIFIER,,,,1;PPIL2,non_coding_transcript_exon_variant,,ENST00000484439,,n.797C>A,MODIFIER,,,,1;PPIL2,upstream_gene_variant,,ENST00000446951,,,MODIFIER,,,,1;PPIL2,3_prime_UTR_variant,,ENST00000417788,,c.*549C>A,MODIFIER,,,,1	A	ENST00000335025	Transcript	synonymous_variant	synonymous_variant	704/4929	613/1563	205/520	R	Cga/Aga		1		1	PPIL2	HGNC	HGNC:9261	protein_coding	YES	CCDS13793.1	ENSP00000334553	Q13356	A0A024R1C1	UPI0000128C6F	NM_148175.2			10/21		Pfam_domain:PF04641																	LOW	1	SNV	1			1											PASS	AGACCCGAGAG	593add72-d9ed-4537-92fe-edf98ce8f55f	68da9861-b87d-4451-ba26-26be8aaa362d	eca704c0-8563-4708-b563-6d60235b1427	b26cb5f2-4ff0-4476-8d02-7256ace7d8a3			False	Unknown	A	2	1	52	21684812	21684812	C	A	1	0	0	0	0	0	0	0	1	12438	644	23	5		5	PPIL2	22	21684812	Silent	SNP	C	TCGA-VD-A8KN-01A-11D-A39W-08		21684812	29133656	11	781											
FCRL6	343413	BI	GRCh38	chr1	159814291	159814292	+	Frame_Shift_Ins	INS	-	-	T													gaacctcaaagaggagtgaaINSggtgagtgatctcaggccaa					novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.1146_1147insT	p.Ala383CysfsTer5	p.A383Cfs*5	ENST00000368106	8/10	46	43	3	42			FCRL6,frameshift_variant,p.A390Cfs*5,ENST00000321935,NM_001284217.1,c.1167_1168insT,HIGH,,,,1;FCRL6,frameshift_variant,p.G383Wfs*10,ENST00000339348,,c.1146_1147insT,HIGH,,,,1;FCRL6,frameshift_variant,p.A383Cfs*5,ENST00000368106,NM_001004310.2,c.1146_1147insT,HIGH,YES,,,1;FCRL6,frameshift_variant,p.A288Cfs*5,ENST00000392235,,c.861_862insT,HIGH,,,,1;FCRL6,downstream_gene_variant,,ENST00000536257,,,MODIFIER,,,,1	T	ENST00000368106	Transcript	frameshift_variant	frameshift_variant;splice_region_variant	1147-1148/1306	1146-1147/1305	382-383/434	-/X	-/T		1		1	FCRL6	HGNC	HGNC:31910	protein_coding	YES	CCDS30912.1	ENSP00000357086	Q6DN72		UPI0000D62020	NM_001004310.2			8/10																			HIGH	1	insertion	1			1											PASS	AGTGAAGGTGA	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			False	Unknown	T	7	5	53	159814291	159814291	-	T	1	0	1	1	0	0	0	0	0	5661	86	3	0		0	FCRL6	1	159814291	Frame_Shift_Ins	INS	-	TCGA-VD-A8KO-01A-11D-A39W-08		159814291	89142131	1	782											
TET3	200424	BI	GRCh38	chr2	74047971	74047972	+	Frame_Shift_Del	DEL	CC	CC	-													ccctactcaggaaatgaggtCccccagccccatgacagcct					novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.2057_2058delCC	p.Pro686GlnfsTer19	p.P686Qfs*19	ENST00000409262	3/11	57	28	29	19			TET3,frameshift_variant,p.P686Qfs*19,ENST00000409262,NM_001287491.1,c.2057_2058delCC,HIGH,YES,,,1;TET3,frameshift_variant,p.P593Qfs*19,ENST00000305799,,c.1778_1779delCC,HIGH,,,,1;TET3,non_coding_transcript_exon_variant,,ENST00000475405,,n.815_816delCC,MODIFIER,,,,1	-	ENST00000409262	Transcript	frameshift_variant	frameshift_variant	2054-2055/11388	2054-2055/5388	685/1795	S/X	tCC/t		1		1	TET3	HGNC	HGNC:28313	protein_coding	YES	CCDS46339.2	ENSP00000386869	O43151	K9JJH7	UPI0002A87FCB	NM_001287491.1			3/11		PROSITE_profiles:PS50099																	HIGH	1	deletion	1	3		1											PASS	TGAGGTCCCCCAG	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	-	7	5	53	74047971	74047971	CC	-	1	0	1	0	1	0	0	0	0	16192	855	30	0		0	TET3	2	74047971	Frame_Shift_Del	DEL	CC	TCGA-VD-A8KO-01A-11D-A39W-08		74047971	168145558	2	783											
PSMD2	5708	BI	GRCh38	chr3	184307966	184307966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttatgagccaggtggCcgtggctggactgctcactg	15	11	1	1	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.2375C>T	p.Ala792Val	p.A792V	ENST00000310118	19/21	55	49	6	74			PSMD2,missense_variant,p.A792V,ENST00000310118,NM_002808.4,c.2375C>T,MODERATE,YES,deleterious(0),probably_damaging(0.958),1;PSMD2,missense_variant,p.A662V,ENST00000439383,NM_001278708.1,c.1985C>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;PSMD2,missense_variant,p.A633V,ENST00000435761,NM_001278709.1,c.1898C>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;EIF2B5,intron_variant,,ENST00000444495,,c.2106+163259C>T,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000432855,,,MODIFIER,,,,1;PSMD2,non_coding_transcript_exon_variant,,ENST00000473991,,n.454C>T,MODIFIER,,,,1;PSMD2,non_coding_transcript_exon_variant,,ENST00000491494,,n.45C>T,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000491149,,,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000496925,,,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000460628,,,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000488085,,,MODIFIER,,,,1;PSMD2,downstream_gene_variant,,ENST00000466987,,,MODIFIER,,,,1	T	ENST00000310118	Transcript	missense_variant	missense_variant	2933/3449	2375/2727	792/908	A/V	gCc/gTc		1		1	PSMD2	HGNC	HGNC:9559	protein_coding	YES	CCDS3258.1	ENSP00000310129	Q13200		UPI000013277E	NM_002808.4	deleterious(0)	probably_damaging(0.958)	19/21		PIRSF_domain:PIRSF015965																	MODERATE	1	SNV	1			1											PASS	GGTGGCCGTGG	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			False	Unknown	T	3	4	53	184307966	184307966	C	T	1	0	0	0	0	1	0	0	0	12849	739	26	3		3	PSMD2	3	184307966	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		184307966	13987593	3	784											
OR2B3	442184	BI	GRCh38	chr6	29086376	29086376	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatctttatttctaagGctgtagatgagggagttcaa	9	5	4	2	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.873C>A	p.Ser291Arg	p.S291R	ENST00000377173	1/1	63	51	12	49			OR2B3,missense_variant,p.S291R,ENST00000377173,NM_001005226.2,c.873C>A,MODERATE,YES,deleterious(0),benign(0.25),-1	T	ENST00000377173	Transcript	missense_variant	missense_variant	938/1007	873/942	291/313	S/R	agC/agA		1		-1	OR2B3	HGNC	HGNC:8238	protein_coding	YES	CCDS34358.1	ENSP00000366378	O76000		UPI0000041DB9	NM_001005226.2	deleterious(0)	benign(0.25)	1/1		Pfam_domain:PF10320;Transmembrane_helices:Tmhmm;Prints_domain:PR00245;Prints_domain:PR00237;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	CTAAGGCTGTA	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	T	3	4	53	29086376	29086376	G	T	1	0	0	0	0	1	0	0	0	11069	1194	42	5		5	OR2B3	6	29086376	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		29086376	141719603	4	785											
ACTB	60	BI	GRCh38	chr7	5528692	5528692	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatagcaacgtacatggCtggggtgttgaaggtctcaa	14	7	1	1	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.391G>A	p.Ala131Thr	p.A131T	ENST00000331789	4/6	89	45	44	103			ACTB,missense_variant,p.A131T,ENST00000331789,NM_001101.3,c.391G>A,MODERATE,YES,deleterious_low_confidence(0.02),probably_damaging(0.997),-1;ACTB,missense_variant,p.A131T,ENST00000432588,,c.391G>A,MODERATE,,,,-1;ACTB,downstream_gene_variant,,ENST00000443528,,,MODIFIER,,,,-1;ACTB,downstream_gene_variant,,ENST00000414620,,,MODIFIER,,,,-1;ACTB,downstream_gene_variant,,ENST00000417101,,,MODIFIER,,,,-1;AC006483.1,upstream_gene_variant,,ENST00000579427,,,MODIFIER,YES,,,-1;ACTB,non_coding_transcript_exon_variant,,ENST00000473257,,n.109G>A,MODIFIER,,,,-1;ACTB,upstream_gene_variant,,ENST00000464611,,,MODIFIER,,,,-1;ACTB,3_prime_UTR_variant,,ENST00000425660,,c.*54G>A,MODIFIER,,,,-1;ACTB,non_coding_transcript_exon_variant,,ENST00000462494,,n.916G>A,MODIFIER,,,,-1;ACTB,non_coding_transcript_exon_variant,,ENST00000493945,,n.397G>A,MODIFIER,,,,-1;ACTB,non_coding_transcript_exon_variant,,ENST00000484841,,n.546G>A,MODIFIER,,,,-1;ACTB,non_coding_transcript_exon_variant,,ENST00000477812,,n.598G>A,MODIFIER,,,,-1;ACTB,downstream_gene_variant,,ENST00000480301,,,MODIFIER,,,,-1	T	ENST00000331789	Transcript	missense_variant	missense_variant	583/1917	391/1128	131/375	A/T	Gcc/Acc		1		-1	ACTB	HGNC	HGNC:132	protein_coding	YES	CCDS5341.1	ENSP00000349960	P60709	Q1KLZ0	UPI000000082D	NM_001101.3	deleterious_low_confidence(0.02)	probably_damaging(0.997)	4/6		Pfam_domain:PF00022;SMART_domains:SM00268;Superfamily_domains:SSF53067																	MODERATE	1	SNV	1			1											PASS	CATGGCTGGGG	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	T	3	4	53	5528692	5528692	C	T	1	0	0	0	0	1	0	0	0	236	797	28	3		3	ACTB	7	5528692	Missense_Mutation	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08		5528692	153817281	5	786											
TRAM1	23471	BI	GRCh38	chr8	70608177	70608177	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcagcactggggggctcttgGtgcttttcttgcgaatcgcc	13	11	3	0	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.23C>G	p.Thr8Ser	p.T8S	ENST00000262213	1/11	82	40	42	69			TRAM1,missense_variant,p.T8S,ENST00000262213,NM_014294.5,c.23C>G,MODERATE,YES,tolerated(0.86),benign(0.001),-1;TRAM1,intron_variant,,ENST00000518678,,c.-30-41C>G,MODIFIER,,,,-1;TRAM1,upstream_gene_variant,,ENST00000521425,,,MODIFIER,,,,-1;LACTB2-AS1,upstream_gene_variant,,ENST00000499227,,,MODIFIER,YES,,,1;LACTB2-AS1,upstream_gene_variant,,ENST00000518553,,,MODIFIER,,,,1;LACTB2-AS1,upstream_gene_variant,,ENST00000519358,,,MODIFIER,,,,1;LACTB2-AS1,upstream_gene_variant,,ENST00000518152,,,MODIFIER,,,,1;TRAM1,non_coding_transcript_exon_variant,,ENST00000521049,,n.163C>G,MODIFIER,,,,-1;TRAM1,intron_variant,,ENST00000520700,,n.90+86C>G,MODIFIER,,,,-1	C	ENST00000262213	Transcript	missense_variant	missense_variant	193/2785	23/1125	8/374	T/S	aCc/aGc		1		-1	TRAM1	HGNC	HGNC:20568	protein_coding	YES	CCDS6207.1	ENSP00000262213	Q15629	Q6FHL3		NM_014294.5	tolerated(0.86)	benign(0.001)	1/11		PIRSF_domain:PIRSF005449																	MODERATE	1	SNV	1			1											PASS	TCTTGGTGCTT	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	C	3	2	53	70608177	70608177	G	C	1	0	0	0	0	1	0	0	0	16934	1261	44	5		5	TRAM1	8	70608177	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		70608177	74530459	6	787											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	102	55	47	106			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a		COSM28757	True	Unknown	A	3	1	53	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-A8KO-01A-11D-A39W-08		77794572	60600145	7	788											
MYBPC3	4607	BI	GRCh38	chr11	47337441	47337441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggcctggacatgccgatgGcgttgaccgcgtagacgcgc	16	12	0	2	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.2552C>A	p.Ala851Asp	p.A851D	ENST00000545968	25/35	55	37	18	53			MYBPC3,missense_variant,p.A851D,ENST00000545968,NM_000256.3,c.2552C>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.827),-1;MYBPC3,missense_variant,p.A851D,ENST00000399249,,c.2552C>A,MODERATE,,deleterious(0.01),possibly_damaging(0.827),-1;MYBPC3,missense_variant,p.A851D,ENST00000256993,,c.2552C>A,MODERATE,,deleterious(0.01),benign(0.263),-1;MYBPC3,3_prime_UTR_variant,,ENST00000544791,,c.*57C>A,MODIFIER,,,,-1	T	ENST00000545968	Transcript	missense_variant	missense_variant	2607/4226	2552/3825	851/1274	A/D	gCc/gAc		1		-1	MYBPC3	HGNC	HGNC:7551	protein_coding	YES	CCDS53621.1	ENSP00000442795	Q14896		UPI000006EEAA	NM_000256.3	deleterious(0.01)	possibly_damaging(0.827)	25/35		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	5			1											panel_of_normals	CGATGGCGTTG	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a	gdc_pon		True	Unknown	T	3	4	53	47337441	47337441	G	T	1	0	0	0	0	1	0	0	0	10013	1203	42	5		5	MYBPC3	11	47337441	Missense_Mutation	SNP	G	TCGA-VD-A8KO-01A-11D-A39W-08		47337441	87749181	8	789											
ARAP1	116985	BI	GRCh38	chr11	72697486	72697486	+	Splice_Region	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgccctgtatgtacagtgtCctgggccagggacagtcagt	13	11	1	0	novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.2790G>A	p.=	p.R930R	ENST00000393609	21/35	47	27	20	28			ARAP1,splice_region_variant,p.R930R,ENST00000359373,,c.2790G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R930R,ENST00000393609,NM_001040118.2,c.2790G>A,LOW,YES,,,-1;ARAP1,splice_region_variant,p.R685R,ENST00000334211,NM_015242.4,c.2055G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R690R,ENST00000393605,,c.2070G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R685R,ENST00000426523,,c.2055G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R624R,ENST00000429686,NM_001135190.1,c.1872G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R170R,ENST00000455638,,c.510G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R218R,ENST00000427971,,c.654G>A,LOW,,,,-1;ARAP1,splice_region_variant,p.R218R,ENST00000452383,,c.654G>A,LOW,,,,-1;ARAP1,upstream_gene_variant,,ENST00000542596,,,MODIFIER,,,,-1;ARAP1-AS2,upstream_gene_variant,,ENST00000500163,,,MODIFIER,YES,,,1;ARAP1-AS1,downstream_gene_variant,,ENST00000542022,,,MODIFIER,YES,,,1;ARAP1,splice_region_variant,,ENST00000495878,,n.633G>A,LOW,,,,-1;ARAP1,upstream_gene_variant,,ENST00000544958,,,MODIFIER,,,,-1;ARAP1,splice_region_variant,,ENST00000465814,,n.3127G>A,LOW,,,,-1;ARAP1,upstream_gene_variant,,ENST00000546293,,,MODIFIER,,,,-1;ARAP1,upstream_gene_variant,,ENST00000543868,,,MODIFIER,,,,-1;ARAP1,upstream_gene_variant,,ENST00000536993,,,MODIFIER,,,,-1	T	ENST00000393609	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	2993/5145	2790/4353	930/1450	R	agG/agA		1		-1	ARAP1	HGNC	HGNC:16925	protein_coding	YES	CCDS41687.1	ENSP00000377233	Q96P48		UPI000053F81B	NM_001040118.2			21/35		SMART_domains:SM00233;Superfamily_domains:SSF50729																	LOW	1	SNV	2			1											PASS	AGTGTCCTGGG	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	T	5	4	53	72697486	72697486	C	T	1	0	0	0	0	0	0	1	0	960	869	30	3		3	ARAP1	11	72697486	Splice_Region	SNP	C	TCGA-VD-A8KO-01A-11D-A39W-08	25360045	72697486	62389136	9	790											
EIF1AX	1964	BI	GRCh38	chrX	20138617	20138619	+	In_Frame_Del	DEL	CTT	CTT	-													cctgcgtctgtttttacctcCtttacctgatggtttaaaaa					novel		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	c.20_22delAAG	p.Lys7_Gly8delinsArg	p.K7_G8delinsR	ENST00000379607	2/7	39	0	39	74			EIF1AX,inframe_deletion,p.K7_G8delinsR,ENST00000379607,NM_001412.3,c.20_22delAAG,MODERATE,YES,,,-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2778_17-2776delAAG,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	-	ENST00000379607	Transcript	inframe_deletion	inframe_deletion	224-226/4427	20-22/435	7-8/144	KG/R	aAAGga/aga		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3			2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	deletion	1			1											PASS	TACCTCCTTTACCT	898abbdd-282f-412c-81d3-c87c01ff8302	85e8cd6d-2c9f-4090-ba79-70b1ac1719ae	544f7aed-20d2-4469-bcfe-20575ee67a86	014d4b17-d683-438b-9287-33fcec82bf5a			True	Unknown	-	7	5	53	20138617	20138617	CTT	-	1	0	1	0	1	0	0	0	0	4828	695	24	0		0	EIF1AX	23	20138617	In_Frame_Del	DEL	CTT	TCGA-VD-A8KO-01A-11D-A39W-08		20138617	135902278	10	791											
ZBTB8A	653121	BI	GRCh38	chr1	32593174	32593174	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acttttacagttatcttggaCttcgtatattctggcaaact	6	8	2	0	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.243C>G	p.Asp81Glu	p.D81E	ENST00000373510	3/5	121	111	10	132			ZBTB8A,missense_variant,p.D81E,ENST00000373510,NM_001040441.1,c.243C>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;ZBTB8A,missense_variant,p.D81E,ENST00000316459,,c.243C>G,MODERATE,,deleterious(0),probably_damaging(0.976),1;RP1-27O5.3,3_prime_UTR_variant,,ENST00000480336,,c.*362C>G,MODIFIER,YES,,,1	G	ENST00000373510	Transcript	missense_variant	missense_variant	472/7075	243/1326	81/441	D/E	gaC/gaG		1		1	ZBTB8A	HGNC	HGNC:24172	protein_coding	YES	CCDS30664.1	ENSP00000362609	Q96BR9		UPI000006EA53	NM_001040441.1	deleterious(0)	probably_damaging(0.998)	3/5		Pfam_domain:PF00651;Pfam_domain:PF11822;PROSITE_profiles:PS50097;SMART_domains:SM00225;Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1											panel_of_normals	TTGGACTTCGT	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4	gdc_pon		True	Unknown	G	3	3	54	32593174	32593174	C	G	1	0	0	0	0	1	0	0	0	18126	564	20	5		5	ZBTB8A	1	32593174	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		32593174	216363248	1	792											
NPR1	4881	BI	GRCh38	chr1	153685844	153685844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctaaccacagagggCcagttccaagtctttgccaa	8	14	1	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1644C>T	p.=	p.G548G	ENST00000368680	9/22	80	51	29	83			NPR1,synonymous_variant,p.G548G,ENST00000368680,NM_000906.3,c.1644C>T,LOW,YES,,,1;MIR8083,downstream_gene_variant,,ENST00000620823,,,MODIFIER,YES,,,-1;NPR1,downstream_gene_variant,,ENST00000413826,,,MODIFIER,,,,1;NPR1,upstream_gene_variant,,ENST00000368677,,,MODIFIER,,,,1	T	ENST00000368680	Transcript	synonymous_variant	synonymous_variant	2116/4236	1644/3186	548/1061	G	ggC/ggT		1		1	NPR1	HGNC	HGNC:7943	protein_coding	YES	CCDS1051.1	ENSP00000357669	P16066		UPI0000125B3D	NM_000906.3			9/22		PROSITE_profiles:PS50011;SMART_domains:SM00219;Superfamily_domains:SSF56112																	LOW	1	SNV	1			1											PASS	GAGGGCCAGTT	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	T	2	4	54	153685844	153685844	C	T	1	0	0	0	0	0	0	0	1	10650	726	26	3		3	NPR1	1	153685844	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	121092670	153685844	95270578	2	793											
SLC40A1	30061	BI	GRCh38	chr2	189563790	189563790	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggagaaacggacaagTccagggggcttccaggcatg	14	9	0	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1196A>G	p.Asp399Gly	p.D399G	ENST00000261024	7/8	49	26	23	51			SLC40A1,missense_variant,p.D399G,ENST00000261024,NM_014585.5,c.1196A>G,MODERATE,YES,deleterious(0),benign(0.34),-1;SLC40A1,downstream_gene_variant,,ENST00000427241,,,MODIFIER,,,,-1	C	ENST00000261024	Transcript	missense_variant	missense_variant	1623/3442	1196/1716	399/571	D/G	gAc/gGc		1		-1	SLC40A1	HGNC	HGNC:10909	protein_coding	YES	CCDS2299.1	ENSP00000261024	Q9NP59		UPI0000034CC2	NM_014585.5	deleterious(0)	benign(0.34)	7/8		Pfam_domain:PF06963;Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1											PASS	ACAAGTCCAGG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	189563790	189563790	T	C	1	0	0	0	0	1	0	0	0	14906	1667	58	4		4	SLC40A1	2	189563790	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		189563790	52629739	3	794											
TGM4	7047	BI	GRCh38	chr3	44911354	44911354	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccctttgactgacgtcAagttctctttggaaagcctg	8	12	2	2	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1861A>C	p.Lys621Gln	p.K621Q	ENST00000296125	13/14	109	63	46	98			TGM4,missense_variant,p.K621Q,ENST00000296125,NM_003241.3,c.1861A>C,MODERATE,YES,deleterious(0.05),possibly_damaging(0.447),1;ZDHHC3,downstream_gene_variant,,ENST00000339420,,,MODIFIER,,,,-1;TGM4,downstream_gene_variant,,ENST00000459830,,,MODIFIER,,,,1	C	ENST00000296125	Transcript	missense_variant	missense_variant	1929/3388	1861/2055	621/684	K/Q	Aag/Cag		1		1	TGM4	HGNC	HGNC:11780	protein_coding	YES	CCDS2723.1	ENSP00000296125	P49221		UPI0000136CCD	NM_003241.3	deleterious(0.05)	possibly_damaging(0.447)	13/14		Pfam_domain:PF00927;Superfamily_domains:SSF49309																	MODERATE	1	SNV	1			1											PASS	ACGTCAAGTTC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	44911354	44911354	A	C	1	0	0	0	0	1	0	0	0	16265	131	5	5		5	TGM4	3	44911354	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		44911354	153384205	4	795											
PDIA5	10954	BI	GRCh38	chr3	123102771	123102771	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtgcatttcatactgAatataaccgagctgtgacat	10	7	1	2	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.362A>G	p.Glu121Gly	p.E121G	ENST00000316218	5/17	46	26	20	66			PDIA5,missense_variant,p.E121G,ENST00000316218,NM_006810.3,c.362A>G,MODERATE,YES,deleterious(0.04),possibly_damaging(0.493),1;PDIA5,missense_variant,p.E25G,ENST00000484644,,c.74A>G,MODERATE,,deleterious(0.03),possibly_damaging(0.493),1;PDIA5,non_coding_transcript_exon_variant,,ENST00000495004,,n.381A>G,MODIFIER,,,,1;PDIA5,missense_variant,p.E121G,ENST00000489923,,c.362A>G,MODERATE,,deleterious(0.04),possibly_damaging(0.493),1	G	ENST00000316218	Transcript	missense_variant	missense_variant	457/1799	362/1560	121/519	E/G	gAa/gGa		1		1	PDIA5	HGNC	HGNC:24811	protein_coding	YES	CCDS3020.1	ENSP00000323313	Q14554		UPI000013148A	NM_006810.3	deleterious(0.04)	possibly_damaging(0.493)	5/17		Superfamily_domains:SSF52833																	MODERATE	1	SNV	1			1											PASS	TACTGAATATA	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	G	3	3	54	123102771	123102771	A	G	1	0	0	0	0	1	0	0	0	11759	246	9	4		4	PDIA5	3	123102771	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08	78191417	123102771	75192788	5	796											
WDR41	55255	BI	GRCh38	chr5	77492204	77492204	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcggttctcggcctcccccgAtcagccatcgcaacatccgg	10	18	2	0	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.17T>G	p.Ile6Ser	p.I6S	ENST00000296679	1/13	37	20	17	42			WDR41,missense_variant,p.I6S,ENST00000296679,NM_018268.2,c.17T>G,MODERATE,YES,deleterious(0),benign(0.194),-1;WDR41,missense_variant,p.I6S,ENST00000414719,,c.17T>G,MODERATE,,deleterious(0),benign(0.323),-1;WDR41,missense_variant,p.I6S,ENST00000507029,,c.17T>G,MODERATE,,deleterious_low_confidence(0),benign(0.227),-1;WDR41,missense_variant,p.I6S,ENST00000511036,,c.17T>G,MODERATE,,deleterious_low_confidence(0),benign(0.007),-1;WDR41,missense_variant,p.I6S,ENST00000514559,,c.17T>G,MODERATE,,deleterious(0),benign(0.403),-1;WDR41,missense_variant,p.I6S,ENST00000511791,,c.17T>G,MODERATE,,,,-1;WDR41,intron_variant,,ENST00000509971,,c.43-2632T>G,MODIFIER,,,,-1;WDR41,upstream_gene_variant,,ENST00000515253,,,MODIFIER,,,,-1;WDR41,upstream_gene_variant,,ENST00000507654,,,MODIFIER,,,,-1;WDR41,upstream_gene_variant,,ENST00000504895,,,MODIFIER,,,,-1;WDR41,non_coding_transcript_exon_variant,,ENST00000507452,,n.12T>G,MODIFIER,,,,-1;WDR41,non_coding_transcript_exon_variant,,ENST00000515321,,n.18T>G,MODIFIER,,,,-1;WDR41,intron_variant,,ENST00000513917,,n.311-2632T>G,MODIFIER,,,,-1;WDR41,intron_variant,,ENST00000512168,,n.256-9T>G,MODIFIER,,,,-1;WDR41,intron_variant,,ENST00000509858,,n.178-2647T>G,MODIFIER,,,,-1;WDR41,upstream_gene_variant,,ENST00000514451,,,MODIFIER,,,,-1;WDR41,missense_variant,p.I6S,ENST00000505129,,c.17T>G,MODERATE,,deleterious(0),benign(0.439),-1;WDR41,missense_variant,p.I6S,ENST00000509701,,c.17T>G,MODERATE,,deleterious(0),benign(0.355),-1;WDR41,missense_variant,p.I6S,ENST00000503035,,c.17T>G,MODERATE,,,unknown(0),-1;WDR41,missense_variant,p.I5S,ENST00000509892,,c.12T>G,MODERATE,,deleterious_low_confidence(0),benign(0.203),-1;WDR41,missense_variant,p.I6S,ENST00000506307,,c.17T>G,MODERATE,,deleterious(0),benign(0.355),-1;WDR41,missense_variant,p.I6S,ENST00000513417,,c.17T>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.663),-1;WDR41,missense_variant,p.I6S,ENST00000506474,,c.17T>G,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.624),-1;WDR41,non_coding_transcript_exon_variant,,ENST00000507239,,n.19T>G,MODIFIER,,,,-1	C	ENST00000296679	Transcript	missense_variant	missense_variant	393/3958	17/1380	6/459	I/S	aTc/aGc		1		-1	WDR41	HGNC	HGNC:25601	protein_coding	YES	CCDS4038.1	ENSP00000296679	Q9HAD4			NM_018268.2	deleterious(0)	benign(0.194)	1/13																			MODERATE	1	SNV	1			1											PASS	CCCCGATCAGC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	77492204	77492204	A	C	1	0	0	0	0	1	0	0	0	17854	333	12	5		5	WDR41	5	77492204	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		77492204	104046055	6	797											
NREP	9315	BI	GRCh38	chr5	111730962	111730962	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gattcttggggagcggagttCactgctgcccagtggagtca	15	9	3	0	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.166G>A	p.Glu56Lys	p.E56K	ENST00000257435	4/4	65	29	36	65			NREP,missense_variant,p.E56K,ENST00000379671,NM_001142478.1,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000447165,NM_001142483.1,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000446294,NM_001142482.1&NM_001142481.1,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000257435,NM_004772.2,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E100K,ENST00000395634,NM_001142474.1&NM_001142475.1,c.298G>A,MODERATE,YES,tolerated(0.13),benign(0.285),-1;NREP,missense_variant,p.E56K,ENST00000419114,NM_001142480.1&NM_001142479.1,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000455559,NM_001142477.1&NM_001142476.1,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000450761,,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000509427,,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000453526,,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000513100,,c.166G>A,MODERATE,,tolerated(0.15),benign(0.051),-1;NREP,missense_variant,p.E56K,ENST00000508870,,c.166G>A,MODERATE,,tolerated(0.14),benign(0.051),-1;NREP,3_prime_UTR_variant,,ENST00000515855,,c.*131G>A,MODIFIER,,,,-1;NREP,3_prime_UTR_variant,,ENST00000509979,,c.*131G>A,MODIFIER,,,,-1;NREP,intron_variant,,ENST00000509025,,c.81+4468G>A,MODIFIER,,,,-1;NREP,downstream_gene_variant,,ENST00000508161,,,MODIFIER,,,,-1;NREP,downstream_gene_variant,,ENST00000507032,,,MODIFIER,,,,-1;STARD4-AS1,intron_variant,,ENST00000500779,,n.1037-819C>T,MODIFIER,YES,,,1;STARD4-AS1,intron_variant,,ENST00000513221,,n.122+452C>T,MODIFIER,,,,1;NREP,non_coding_transcript_exon_variant,,ENST00000507742,,n.257G>A,MODIFIER,,,,-1;NREP,non_coding_transcript_exon_variant,,ENST00000504018,,n.645G>A,MODIFIER,,,,-1;NREP,intron_variant,,ENST00000514515,,c.81+4468G>A,MODIFIER,,,,-1;NREP,downstream_gene_variant,,ENST00000503429,,,MODIFIER,,,,-1;NREP,downstream_gene_variant,,ENST00000505864,,,MODIFIER,,,,-1	T	ENST00000257435	Transcript	missense_variant	missense_variant	347/2013	166/207	56/68	E/K	Gaa/Aaa		1		-1	NREP	HGNC	HGNC:16834	protein_coding		CCDS4105.1	ENSP00000257435	Q16612		UPI0000047FA1	NM_004772.2	tolerated(0.14)	benign(0.051)	4/4		Pfam_domain:PF11092																	MODERATE		SNV	1			1											PASS	GAGTTCACTGC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	T	3	4	54	111730962	111730962	C	T	1	0	0	0	0	1	0	0	0	10703	835	29	3		3	NREP	5	111730962	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	34238758	111730962	69807297	7	798											
LRRC16A	55604	BI	GRCh38	chr6	25500185	25500185	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagcactgttattgggcctgGcttgtaatcataacttgaaa	10	7	1	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1345G>C	p.Ala449Pro	p.A449P	ENST00000329474	17/37	34	19	15	36			LRRC16A,missense_variant,p.A449P,ENST00000329474,NM_017640.5&NM_001173977.1,c.1345G>C,MODERATE,YES,deleterious(0),possibly_damaging(0.824),1	C	ENST00000329474	Transcript	missense_variant	missense_variant	1713/5431	1345/4116	449/1371	A/P	Gct/Cct		1		1	LRRC16A	HGNC	HGNC:21581	protein_coding	YES	CCDS54973.1	ENSP00000331983	Q5VZK9		UPI00004588AB	NM_017640.5;NM_001173977.1	deleterious(0)	possibly_damaging(0.824)	17/37		Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1											PASS	GCCTGGCTTGT	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	25500185	25500185	G	C	1	0	0	0	0	1	0	0	0	8867	1203	42	5		5	LRRC16A	6	25500185	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		25500185	145305794	8	799											
KAT6A	7994	BI	GRCh38	chr8	41932756	41932756	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaggagatgtgaggtTcatggtagtggatgccaagt	16	4	1	3	rs769858065		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.5464A>G	p.Asn1822Asp	p.N1822D	ENST00000265713	17/17	72	40	32	70			KAT6A,missense_variant,p.N1822D,ENST00000396930,NM_001099412.1,c.5464A>G,MODERATE,YES,,unknown(0),-1;KAT6A,missense_variant,p.N1822D,ENST00000406337,NM_001099413.1,c.5464A>G,MODERATE,,,unknown(0),-1;KAT6A,missense_variant,p.N1822D,ENST00000265713,NM_006766.3,c.5464A>G,MODERATE,,,unknown(0),-1;KAT6A,downstream_gene_variant,,ENST00000418721,,,MODIFIER,,,,-1	C	ENST00000265713	Transcript	missense_variant	missense_variant	5876/9153	5464/6015	1822/2004	N/D	Aac/Gac	rs769858065	1		-1	KAT6A	HGNC	HGNC:13013	protein_coding		CCDS6124.1	ENSP00000265713	Q92794		UPI000013D666	NM_006766.3		unknown(0)	17/17																			MODERATE		SNV	1			1	8.236e-06	8.237e-06	0	0	0	0	1.499e-05	0	0		PASS	GAGGTTCATGG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	41932756	41932756	T	C	1	0	0	0	0	1	0	0	0	7898	1783	62	4		4	KAT6A	8	41932756	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		41932756	103205880	9	800											
ZNF658	26149	BI	GRCh38	chr9	66919461	66919461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagaaaccttatgaatGtaatgaatgtggaaggtctt	14	3	1	3	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1895G>A	p.Cys632Tyr	p.C632Y	ENST00000612867	5/5	102	67	35	468			ZNF658,missense_variant,p.C632Y,ENST00000612867,,c.1895G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZNF658,missense_variant,p.C632Y,ENST00000621410,NM_033160.5,c.1895G>A,MODERATE,,deleterious(0),probably_damaging(1),1;ZNF658,downstream_gene_variant,,ENST00000619925,,,MODIFIER,,,,1;ZNF658,downstream_gene_variant,,ENST00000616544,,,MODIFIER,,,,1;ZNF658,downstream_gene_variant,,ENST00000621015,,,MODIFIER,,,,1;ZNF658,intron_variant,,ENST00000622180,,c.1792+103G>A,MODIFIER,,,,1	A	ENST00000612867	Transcript	missense_variant	missense_variant	2195/4160	1895/3180	632/1059	C/Y	tGt/tAt		1		1	ZNF658	HGNC	HGNC:25226	protein_coding	YES	CCDS75846.1	ENSP00000482540	Q5TYW1		UPI000046D388		deleterious(0)	probably_damaging(1)	5/5		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1											PASS	TGAATGTAATG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	A	3	1	54	66919461	66919461	G	A	1	0	0	0	0	1	0	0	0	18642	1377	48	3		3	ZNF658	9	66919461	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		66919461	71475256	10	801											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	102	53	49	92			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4		COSM28758	True	Unknown	G	3	3	54	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08	10875111	77794572	60600145	11	802											
OGN	4969	BI	GRCh38	chr9	92385691	92385691	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgctttcccaggacgattgGattgccctccaggcgtatct	10	12	1	0	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.826C>A	p.Pro276Thr	p.P276T	ENST00000262551	7/7	79	74	5	84			OGN,missense_variant,p.P276T,ENST00000262551,NM_033014.2,c.826C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;OGN,missense_variant,p.P276T,ENST00000375561,NM_014057.3,c.826C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CENPP,intron_variant,,ENST00000375587,NM_001012267.2,c.564+5832G>T,MODIFIER,YES,,,1;OGN,downstream_gene_variant,,ENST00000447356,,,MODIFIER,,,,-1;OGN,downstream_gene_variant,,ENST00000468743,,,MODIFIER,,,,-1	T	ENST00000262551	Transcript	missense_variant	missense_variant	1247/2971	826/897	276/298	P/T	Cca/Aca		1		-1	OGN	HGNC	HGNC:8126	protein_coding	YES	CCDS6695.1	ENSP00000262551	P20774	A8K0R3	UPI00000540ED	NM_033014.2	deleterious(0)	probably_damaging(1)	7/7		Superfamily_domains:SSF52058																	MODERATE		SNV	5			1											PASS	GATTGGATTGC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	T	3	4	54	92385691	92385691	G	T	1	0	0	0	0	1	0	0	0	10921	1174	41	5		5	OGN	9	92385691	Missense_Mutation	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08	14591119	92385691	46009026	12	803											
STIP1	10963	BI	GRCh38	chr11	64204073	64204073	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacacttaaagaatcctgtaAtagcacagaagatccagaag	8	8	0	4	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1579A>G	p.Ile527Val	p.I527V	ENST00000305218	14/14	104	66	38	114			STIP1,missense_variant,p.I574V,ENST00000358794,NM_001282652.1,c.1720A>G,MODERATE,YES,tolerated(0.78),possibly_damaging(0.54),1;STIP1,missense_variant,p.I527V,ENST00000305218,NM_006819.2,c.1579A>G,MODERATE,,tolerated(0.5),benign(0.145),1;STIP1,missense_variant,p.I503V,ENST00000538945,NM_001282653.1,c.1507A>G,MODERATE,,tolerated(0.6),benign(0.138),1;STIP1,3_prime_UTR_variant,,ENST00000540887,,c.*393A>G,MODIFIER,,,,1;FERMT3,upstream_gene_variant,,ENST00000279227,NM_178443.2,,MODIFIER,YES,,,1;FERMT3,upstream_gene_variant,,ENST00000345728,NM_031471.5,,MODIFIER,,,,1;FERMT3,upstream_gene_variant,,ENST00000544997,,,MODIFIER,,,,1;FERMT3,upstream_gene_variant,,ENST00000541252,,,MODIFIER,,,,1;STIP1,downstream_gene_variant,,ENST00000537479,,,MODIFIER,,,,1;STIP1,3_prime_UTR_variant,,ENST00000536973,,c.*98A>G,MODIFIER,,,,1;STIP1,downstream_gene_variant,,ENST00000538497,,,MODIFIER,,,,1;STIP1,downstream_gene_variant,,ENST00000355603,,,MODIFIER,,,,1	G	ENST00000305218	Transcript	missense_variant	missense_variant	1726/2196	1579/1632	527/543	I/V	Ata/Gta		1		1	STIP1	HGNC	HGNC:11387	protein_coding		CCDS8058.1	ENSP00000305958	P31948	V9HW72	UPI000012D225	NM_006819.2	tolerated(0.5)	benign(0.145)	14/14		SMART_domains:SM00727																	MODERATE		SNV	1			1											PASS	CTGTAATAGCA	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	G	3	3	54	64204073	64204073	A	G	1	0	0	0	0	1	0	0	0	15662	101	4	4		4	STIP1	11	64204073	Missense_Mutation	SNP	A	TCGA-VD-AA8M-01A-11D-A39W-08		64204073	70882549	13	804											
KRT83	3889	BI	GRCh38	chr12	52316927	52316927	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcatactgtgccttgaTctcggcaacgatgcagtcca	9	12	3	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.847A>G	p.Ile283Val	p.I283V	ENST00000293670	5/9	93	57	36	106			KRT83,missense_variant,p.I283V,ENST00000293670,NM_002282.3,c.847A>G,MODERATE,YES,tolerated(0.6),benign(0.122),-1	C	ENST00000293670	Transcript	missense_variant	missense_variant	910/1875	847/1482	283/493	I/V	Atc/Gtc		1		-1	KRT83	HGNC	HGNC:6460	protein_coding	YES	CCDS8823.1	ENSP00000293670	P78385		UPI0000070AF2	NM_002282.3	tolerated(0.6)	benign(0.122)	5/9		Pfam_domain:PF00038;Superfamily_domains:SSF46579																	MODERATE	1	SNV	1			1											PASS	CTTGATCTCGG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	52316927	52316927	T	C	1	0	0	0	0	1	0	0	0	8379	1435	50	4		4	KRT83	12	52316927	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		52316927	80958382	14	805											
IFT140	9742	BI	GRCh38	chr16	1524690	1524690	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctcgttggctatttgCgcagcctagaaagacaaaga	10	10	1	3	rs151293332	by1000G;byCluster	TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.3003G>A	p.=	p.A1001A	ENST00000426508	24/31	46	42	4	53			IFT140,synonymous_variant,p.A1001A,ENST00000426508,NM_014714.3,c.3003G>A,LOW,YES,,,-1;IFT140,synonymous_variant,p.A195A,ENST00000361339,,c.585G>A,LOW,,,,-1;TMEM204,upstream_gene_variant,,ENST00000253934,NM_001256541.1,,MODIFIER,,,,1;IFT140,upstream_gene_variant,,ENST00000568837,,,MODIFIER,,,,-1;IFT140,3_prime_UTR_variant,,ENST00000397417,,c.*1441G>A,MODIFIER,,,,-1;IFT140,non_coding_transcript_exon_variant,,ENST00000565298,,n.2232G>A,MODIFIER,,,,-1;IFT140,downstream_gene_variant,,ENST00000566818,,,MODIFIER,,,,-1	T	ENST00000426508	Transcript	synonymous_variant	synonymous_variant	3367/5270	3003/4389	1001/1462	A	gcG/gcA	rs151293332	1		-1	IFT140	HGNC	HGNC:29077	protein_coding	YES	CCDS10439.1	ENSP00000406012	Q96RY7		UPI0000073C64	NM_014714.3			24/31		Superfamily_domains:SSF48452	2e-04	0	0		0	0	0.001										LOW	1	SNV	5			1	4.945e-05	5.252e-05	0	0	0.0001164	0	1.556e-05	0	0.000327		PASS	ATTTGCGCAGC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	T	2	4	54	1524690	1524690	C	T	1	0	0	0	0	0	0	0	1	7460	782	27	2		2	IFT140	16	1524690	Silent	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		1524690	88813655	15	806											
SHPK	23729	BI	GRCh38	chr17	3610769	3610769	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcggaagcatggagtgcaGgttctgaacaatgcctcggc	13	9	1	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.1228C>T	p.=	p.L410L	ENST00000225519	7/7	76	35	41	111			SHPK,synonymous_variant,p.L410L,ENST00000225519,NM_013276.2,c.1228C>T,LOW,YES,,,-1;TRPV1,upstream_gene_variant,,ENST00000572705,NM_080704.3,,MODIFIER,YES,,,-1;TRPV1,synonymous_variant,p.L410L,ENST00000572919,,c.1228C>T,LOW,,,,-1	A	ENST00000225519	Transcript	synonymous_variant	synonymous_variant	1331/3838	1228/1437	410/478	L	Ctg/Ttg		1		-1	SHPK	HGNC	HGNC:1492	protein_coding	YES	CCDS11030.1	ENSP00000225519	Q9UHJ6		UPI0000070BB8	NM_013276.2			7/7		Superfamily_domains:SSF53067																	LOW	1	SNV	1			1											PASS	GTGCAGGTTCT	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	A	2	1	54	3610769	3610769	G	A	1	0	0	0	0	0	0	0	1	14553	991	35	3		3	SHPK	17	3610769	Silent	SNP	G	TCGA-VD-AA8M-01A-11D-A39W-08		3610769	79646672	16	807											
RECQL5	9400	BI	GRCh38	chr17	75627466	75627466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgccagtcagcttcgctctCgcaccgggcccggccatgga	12	16	2	0	rs766805103	byFrequency	TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.2932G>A	p.Glu978Lys	p.E978K	ENST00000317905	20/20	83	63	20	100			RECQL5,missense_variant,p.E978K,ENST00000317905,NM_004259.6,c.2932G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.988),-1;RECQL5,missense_variant,p.E951K,ENST00000423245,,c.2851G>A,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;RECQL5,intron_variant,,ENST00000581825,,c.479-242G>A,MODIFIER,,,,-1;RECQL5,downstream_gene_variant,,ENST00000578201,,,MODIFIER,,,,-1;RECQL5,downstream_gene_variant,,ENST00000580707,,,MODIFIER,,,,-1;RECQL5,downstream_gene_variant,,ENST00000582548,,,MODIFIER,,,,-1;RECQL5,non_coding_transcript_exon_variant,,ENST00000443199,,n.2468G>A,MODIFIER,,,,-1;MYO15B,downstream_gene_variant,,ENST00000621743,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000612587,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000580414,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000578220,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000577948,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000580262,,,MODIFIER,,,,1;MYO15B,downstream_gene_variant,,ENST00000580096,,,MODIFIER,,,,1;RECQL5,downstream_gene_variant,,ENST00000583673,,,MODIFIER,,,,-1;RECQL5,non_coding_transcript_exon_variant,,ENST00000578865,,n.555G>A,MODIFIER,,,,-1;RECQL5,downstream_gene_variant,,ENST00000582464,,,MODIFIER,,,,-1;MYO15B,downstream_gene_variant,,ENST00000577986,,,MODIFIER,,,,1;RECQL5,downstream_gene_variant,,ENST00000585205,,,MODIFIER,,,,-1;RECQL5,downstream_gene_variant,,ENST00000579265,,,MODIFIER,,,,-1;MYO15B,downstream_gene_variant,,ENST00000610510,,,MODIFIER,YES,,,1	T	ENST00000317905	Transcript	missense_variant	missense_variant	3092/3704	2932/2976	978/991	E/K	Gag/Aag	rs766805103	1		-1	RECQL5	HGNC	HGNC:9950	protein_coding	YES	CCDS42380.1	ENSP00000317636	O94762	A0A024R8M9	UPI0000133477	NM_004259.6	deleterious(0.01)	probably_damaging(0.988)	20/20																			MODERATE	1	SNV	1			1	3.306e-05	3.337e-05	0	0	0	0	3.027e-05	0	0.0001211		PASS	GCTCTCGCACC	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4		COSM1263973	True	Unknown	T	3	4	54	75627466	75627466	C	T	1	0	0	0	0	1	0	0	0	13373	893	31	2		2	RECQL5	17	75627466	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08	72016697	75627466	7629975	17	808											
MUC16	94025	BI	GRCh38	chr19	8888760	8888760	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgtaggggcccagcTcagtgatgctgtgggtcagc	17	10	2	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.40739A>G	p.Glu13580Gly	p.E13580G	ENST00000397910	56/84	212	148	64	185			MUC16,missense_variant,p.E13580G,ENST00000397910,NM_024690.2,c.40739A>G,MODERATE,YES,,possibly_damaging(0.541),-1;MUC16,missense_variant,p.E420G,ENST00000599436,,c.1258A>G,MODERATE,,deleterious(0.03),possibly_damaging(0.736),-1;MUC16,missense_variant,p.E420G,ENST00000601404,,c.1258A>G,MODERATE,,deleterious(0.02),possibly_damaging(0.693),-1;MUC16,missense_variant,p.E200G,ENST00000596768,,c.597A>G,MODERATE,,deleterious(0.02),benign(0.064),-1	C	ENST00000397910	Transcript	missense_variant	missense_variant	40943/43816	40739/43524	13580/14507	E/G	gAg/gGg		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008		B5ME49	UPI000065CA24	NM_024690.2		possibly_damaging(0.541)	56/84		Pfam_domain:PF01390;SMART_domains:SM00200;Superfamily_domains:SSF82671																	MODERATE	1	SNV	5			1											PASS	CCAGCTCAGTG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	8888760	8888760	T	C	1	0	0	0	0	1	0	0	0	9972	1551	54	4		4	MUC16	19	8888760	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08		8888760	49728856	18	809											
PPP1R12C	54776	BI	GRCh38	chr19	55091521	55091521	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgctgcattctcatccTtgaggcgctggttgtcagcg	11	12	3	1	novel		TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.2300A>G	p.Lys767Arg	p.K767R	ENST00000263433	22/22	43	19	24	46			PPP1R12C,missense_variant,p.K767R,ENST00000263433,NM_017607.3&NM_001271618.1,c.2300A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.98),-1;PPP1R12C,missense_variant,p.K692R,ENST00000435544,,c.2075A>G,MODERATE,,deleterious(0.01),probably_damaging(0.998),-1;PPP1R12C,missense_variant,p.K722R,ENST00000592993,,c.2164A>G,MODERATE,,deleterious(0.01),probably_damaging(0.997),-1;PPP1R12C,missense_variant,p.K219R,ENST00000591938,,c.655A>G,MODERATE,,deleterious(0.01),probably_damaging(0.996),-1;EPS8L1,downstream_gene_variant,,ENST00000201647,NM_133180.2,,MODIFIER,YES,,,1;EPS8L1,downstream_gene_variant,,ENST00000540810,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000245618,NM_017729.3,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000586329,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000588359,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000587901,,,MODIFIER,,,,1;PPP1R12C,non_coding_transcript_exon_variant,,ENST00000590268,,n.517A>G,MODIFIER,,,,-1;EPS8L1,downstream_gene_variant,,ENST00000592102,,,MODIFIER,,,,1;EPS8L1,downstream_gene_variant,,ENST00000589362,,,MODIFIER,,,,1;PPP1R12C,downstream_gene_variant,,ENST00000592754,,,MODIFIER,,,,-1;EPS8L1,downstream_gene_variant,,ENST00000587715,,,MODIFIER,,,,1;PPP1R12C,downstream_gene_variant,,ENST00000586197,,,MODIFIER,,,,-1;PPP1R12C,downstream_gene_variant,,ENST00000588277,,,MODIFIER,,,,-1	C	ENST00000263433	Transcript	missense_variant	missense_variant	2316/2924	2300/2349	767/782	K/R	aAg/aGg		1		-1	PPP1R12C	HGNC	HGNC:14947	protein_coding	YES	CCDS12916.1	ENSP00000263433	Q9BZL4		UPI000006FEE1	NM_017607.3;NM_001271618.1	deleterious(0.01)	probably_damaging(0.98)	22/22		Coiled-coils_(Ncoils):ncoils;PIRSF_domain:PIRSF038141																	MODERATE	1	SNV	1			1											PASS	CATCCTTGAGG	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	C	3	2	54	55091521	55091521	T	C	1	0	0	0	0	1	0	0	0	12466	1609	56	4		4	PPP1R12C	19	55091521	Missense_Mutation	SNP	T	TCGA-VD-AA8M-01A-11D-A39W-08	46202761	55091521	3526095	19	810											
SLC19A1	6573	BI	GRCh38	chr21	45530951	45530951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggatcttcacgaagcccgCggcgaaggacgtgatggcgc	16	12	2	1	rs746581658	byFrequency	TCGA-VD-AA8M-01A-11D-A39W-08	TCGA-VD-AA8M-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	944a308f-a7f5-4601-8de6-a7b13fd87ff6	0e406133-a743-4957-991f-d050adb9f6a2	c.970G>A	p.Ala324Thr	p.A324T	ENST00000311124	4/6	35	31	4	32			SLC19A1,missense_variant,p.A324T,ENST00000311124,NM_194255.2,c.970G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.946),-1;SLC19A1,missense_variant,p.A59T,ENST00000417954,,c.174G>A,MODERATE,,deleterious(0),probably_damaging(0.973),-1;SLC19A1,missense_variant,p.A324T,ENST00000567670,,c.970G>A,MODERATE,,deleterious(0),probably_damaging(0.972),-1;SLC19A1,missense_variant,p.A284T,ENST00000485649,NM_001205207.1,c.850G>A,MODERATE,,deleterious(0.01),probably_damaging(0.962),-1;SLC19A1,missense_variant,p.A324T,ENST00000380010,NM_001205206.1,c.970G>A,MODERATE,,deleterious(0.01),probably_damaging(0.977),-1;SLC19A1,downstream_gene_variant,,ENST00000443742,,,MODIFIER,,,,-1;SLC19A1,downstream_gene_variant,,ENST00000427839,,,MODIFIER,,,,-1	T	ENST00000311124	Transcript	missense_variant	missense_variant	1123/3811	970/1776	324/591	A/T	Gcg/Acg	rs746581658	1		-1	SLC19A1	HGNC	HGNC:10937	protein_coding	YES	CCDS13725.1	ENSP00000308895	P41440		UPI000012AA0F	NM_194255.2	deleterious(0.01)	probably_damaging(0.946)	4/6		Pfam_domain:PF01770;Transmembrane_helices:Tmhmm;TIGRFAM_domain:TIGR00806;Superfamily_domains:SSF103473;PIRSF_domain:PIRSF028739																	MODERATE	1	SNV	1			1	2.673e-05	4.496e-05	0.0001838	0	0	0	5.196e-05	0	0		PASS	GCCCGCGGCGA	729f4152-3ad8-4030-ac94-5bb8b8128e05	6eb355bf-463b-4f35-ae49-23ef0418e227	2382df28-7db9-490e-89e8-44b098fbf344	9dc5cc23-c903-4fe2-8354-64f8316ff0d4			True	Unknown	T	3	4	54	45530951	45530951	C	T	1	0	0	0	0	1	0	0	0	14694	768	27	2		2	SLC19A1	21	45530951	Missense_Mutation	SNP	C	TCGA-VD-AA8M-01A-11D-A39W-08		45530951	1179032	20	811											
LRRIQ3	127255	BI	GRCh38	chr1	74041481	74041481	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttttgccaaacttgtcGtaaactgttctgaattgtct	7	8	3	1	rs750155109	byFrequency	TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.1450C>T	p.Arg484Ter	p.R484*	ENST00000354431	7/8	86	53	33	94			LRRIQ3,stop_gained,p.R484*,ENST00000354431,NM_001105659.1,c.1450C>T,HIGH,YES,,,-1;LRRIQ3,stop_gained,p.R484*,ENST00000395089,,c.1450C>T,HIGH,,,,-1;LRRIQ3,intron_variant,,ENST00000417067,,c.131-14512C>T,MODIFIER,,,,-1;LRRIQ3,intron_variant,,ENST00000415760,,c.*2703+210C>T,MODIFIER,,,,-1	A	ENST00000354431	Transcript	stop_gained	stop_gained	1642/2849	1450/1875	484/624	R/*	Cga/Tga	rs750155109	1		-1	LRRIQ3	HGNC	HGNC:28318	protein_coding	YES	CCDS41350.1	ENSP00000346414	A6PVS8		UPI000155D493	NM_001105659.1			7/8																			HIGH	1	SNV	5			1	2.484e-05	2.488e-05	0.0001023	0	0	0	3e-05	0	0		PASS	TTGTCGTAAAC	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	A	4	1	55	74041481	74041481	G	A	1	0	0	0	0	0	1	0	0	8936	1153	40	1		1	LRRIQ3	1	74041481	Nonsense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		74041481	174914941	1	812											
SPTA1	6708	BI	GRCh38	chr1	158635968	158635968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	7	15	3	1	rs375618954	byCluster;byFrequency	TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.5377C>T	p.Arg1793Trp	p.R1793W	ENST00000368147	38/52	147	95	52	105			SPTA1,missense_variant,p.R1793W,ENST00000368147,NM_003126.2,c.5377C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SPTA1,missense_variant,p.R1793W,ENST00000614909,,c.5377C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;SPTA1,upstream_gene_variant,,ENST00000461624,,,MODIFIER,,,,-1;SPTA1,downstream_gene_variant,,ENST00000465741,,,MODIFIER,,,,-1	A	ENST00000368147	Transcript	missense_variant	missense_variant	5558/7999	5377/7260	1793/2419	R/W	Cgg/Tgg	rs375618954	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549			NM_003126.2	deleterious(0)	probably_damaging(1)	38/52		Pfam_domain:PF00435;SMART_domains:SM00150;Superfamily_domains:SSF46966								0	1e-04								MODERATE	1	SNV	1			1	2.481e-05	2.486e-05	0	0	0	0	2.997e-05	0	6.056e-05		PASS	CAGCCGCAACT	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	A	3	1	55	158635968	158635968	G	A	1	0	0	0	0	1	0	0	0	15472	1086	38	2		2	SPTA1	1	158635968	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08	84594487	158635968	90320454	2	813											
BAP1	8314	BI	GRCh38	chr3	52408496	52408496	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcaaagaacatgttaTtcacaatatcatcatcaatc	7	8	4	1			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.233A>G	p.Asn78Ser	p.N78S	ENST00000460680	4/17	9	2	7	13			BAP1,missense_variant,p.N78S,ENST00000460680,NM_004656.3,c.233A>G,MODERATE,YES,tolerated(0.06),probably_damaging(0.975),-1;BAP1,missense_variant,p.N78S,ENST00000296288,,c.233A>G,MODERATE,,tolerated(0.08),probably_damaging(0.925),-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-5A>G,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.233A>G,MODIFIER,,,,-1;BAP1,intron_variant,,ENST00000490917,,c.123-419A>G,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	missense_variant	missense_variant	705/3937	233/2190	78/729	N/S	aAt/aGt		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3	tolerated(0.06)	probably_damaging(0.975)	4/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1											PASS	TGTTATTCACA	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b		COSM480290	False	Unknown	C	3	2	55	52408496	52408496	T	C	1	0	0	0	0	1	0	0	0	1463	1493	52	4		4	BAP1	3	52408496	Missense_Mutation	SNP	T	TCGA-VD-AA8N-01A-11D-A39W-08		52408496	145887063	3	814											
PREX2	80243	BI	GRCh38	chr8	68080495	68080495	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctacttttccgttttttttcGgatgaggaaatggagggatc	11	6	0	1	novel		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.1695G>T	p.=	p.S565S	ENST00000288368	16/40	114	65	49	45			PREX2,synonymous_variant,p.S565S,ENST00000288368,NM_024870.2,c.1695G>T,LOW,YES,,,1;RP11-403D15.2,downstream_gene_variant,,ENST00000526901,,,MODIFIER,YES,,,-1;PREX2,non_coding_transcript_exon_variant,,ENST00000529398,,n.1722G>T,MODIFIER,,,,1;PREX2,non_coding_transcript_exon_variant,,ENST00000517617,,n.1406G>T,MODIFIER,,,,1	T	ENST00000288368	Transcript	synonymous_variant	synonymous_variant	1972/10750	1695/4821	565/1606	S	tcG/tcT		1		1	PREX2	HGNC	HGNC:22950	protein_coding	YES	CCDS6201.1	ENSP00000288368	Q70Z35		UPI0000375435	NM_024870.2			16/40		PROSITE_profiles:PS50186;SMART_domains:SM00049;Superfamily_domains:SSF46785																	LOW	1	SNV	1			1											PASS	TTTTCGGATGA	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	T	2	4	55	68080495	68080495	G	T	1	0	0	0	0	0	0	0	1	12611	1103	39	5		5	PREX2	8	68080495	Silent	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		68080495	77058141	4	815											
MYH6	4624	BI	GRCh38	chr14	23393729	23393746	+	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	GTCCTTCTTGAGCTCTGA	-													gtcagctccaggtcatcaatGtccttcttgagctctgagca					novel		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.2848_2865delTCAGAGCTCAAGAAGGAC	p.Ser950_Asp955del	p.S950_D955del	ENST00000356287	21/38	120	75	45	94			MYH6,inframe_deletion,p.S950_D955del,ENST00000405093,NM_002471.3,c.2848_2865delTCAGAGCTCAAGAAGGAC,MODERATE,YES,,,-1;MYH6,inframe_deletion,p.S950_D955del,ENST00000356287,,c.2848_2865delTCAGAGCTCAAGAAGGAC,MODERATE,,,,-1	-	ENST00000356287	Transcript	inframe_deletion	inframe_deletion	2878-2895/5871	2848-2865/5820	950-955/1939	SELKKD/-	TCAGAGCTCAAGAAGGAC/-		1		-1	MYH6	HGNC	HGNC:7576	protein_coding		CCDS9600.1	ENSP00000348634	P13533		UPI0000160969				21/38		Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313																	MODERATE		deletion	1			1											PASS	ATCAATGTCCTTCTTGAGCTCTGAGCACT	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	-	7	5	55	23393729	23393729	GTCCTTCTTGAGCTCTGA	-	1	0	1	0	1	0	0	0	0	10038	1368	48	0		0	MYH6	14	23393729	In_Frame_Del	DEL	GTCCTTCTTGAGCTCTGA	TCGA-VD-AA8N-01A-11D-A39W-08		23393729	83649989	5	816											
TP53BP1	7158	BI	GRCh38	chr15	43480962	43480962	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctctttctccttctgttcCaactcttctcccttctcttc	1	17	6	0	novel		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.417G>A	p.=	p.L139L	ENST00000263801	5/28	71	66	5	39			TP53BP1,synonymous_variant,p.L144L,ENST00000382044,NM_001141980.1,c.432G>A,LOW,YES,,,-1;TP53BP1,synonymous_variant,p.L139L,ENST00000263801,NM_005657.2,c.417G>A,LOW,,,,-1;TP53BP1,synonymous_variant,p.L144L,ENST00000450115,NM_001141979.1,c.432G>A,LOW,,,,-1;TP53BP1,synonymous_variant,p.L144L,ENST00000382039,,c.432G>A,LOW,,,,-1;TP53BP1,synonymous_variant,p.L144L,ENST00000413546,,c.432G>A,LOW,,,,-1;TP53BP1,non_coding_transcript_exon_variant,,ENST00000572085,,n.545G>A,MODIFIER,,,,-1	T	ENST00000263801	Transcript	synonymous_variant	synonymous_variant	670/6346	417/5919	139/1972	L	ttG/ttA		1		-1	TP53BP1	HGNC	HGNC:11999	protein_coding		CCDS10096.1	ENSP00000263801	Q12888		UPI0000131031	NM_005657.2			5/28		Low_complexity_(Seg):Seg																	LOW		SNV	1			1											PASS	TGTTCCAACTC	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			False	Unknown	T	2	4	55	43480962	43480962	C	T	1	0	0	0	0	0	0	0	1	16861	593	21	3		3	TP53BP1	15	43480962	Silent	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		43480962	58510227	6	817											
SEC14L1	6397	BI	GRCh38	chr17	77212108	77212108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcacctctccgggtgggaaCaatgtgcagctcatagacaa	10	11	3	1	novel		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.1770C>T	p.=	p.N590N	ENST00000430767	16/18	231	150	81	193			SEC14L1,splice_region_variant,,ENST00000588488,,c.334+8C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N590N,ENST00000436233,NM_001143999.1&NM_001143998.1&NM_003003.3,c.1770C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N590N,ENST00000430767,NM_001204410.1,c.1770C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N590N,ENST00000392476,NM_001204408.1,c.1770C>T,LOW,YES,,,1;SEC14L1,synonymous_variant,p.N590N,ENST00000443798,NM_001039573.2,c.1770C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N556N,ENST00000591437,,c.1668C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N590N,ENST00000585618,,c.1770C>T,LOW,,,,1;SEC14L1,synonymous_variant,p.N556N,ENST00000431431,NM_001144001.1,c.1668C>T,LOW,,,,1;SEC14L1,upstream_gene_variant,,ENST00000588721,,,MODIFIER,,,,1;SEC14L1,non_coding_transcript_exon_variant,,ENST00000587491,,n.2248C>T,MODIFIER,,,,1;SEC14L1,non_coding_transcript_exon_variant,,ENST00000591413,,n.372C>T,MODIFIER,,,,1	T	ENST00000430767	Transcript	synonymous_variant	synonymous_variant	2126/5283	1770/2148	590/715	N	aaC/aaT		1		1	SEC14L1	HGNC	HGNC:10698	protein_coding		CCDS11752.1	ENSP00000408169	Q92503		UPI000013D328	NM_001204410.1			16/18		PROSITE_profiles:PS50866;Superfamily_domains:SSF101576																	LOW		SNV	2			1											PASS	GGGAACAATGT	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	T	2	4	55	77212108	77212108	C	T	1	0	0	0	0	0	0	0	1	14257	477	17	3		3	SEC14L1	17	77212108	Silent	SNP	C	TCGA-VD-AA8N-01A-11D-A39W-08		77212108	6045333	7	818											
EPG5	57724	BI	GRCh38	chr18	45954996	45954996	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctctgtgaagttctTgggggtttctactttagttc	9	9	4	1	novel		TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.406A>G	p.Lys136Glu	p.K136E	ENST00000282041	2/44	88	41	47	73			EPG5,missense_variant,p.K136E,ENST00000282041,NM_020964.2,c.406A>G,MODERATE,YES,tolerated_low_confidence(0.41),benign(0.051),-1;EPG5,non_coding_transcript_exon_variant,,ENST00000587974,,n.441A>G,MODIFIER,,,,-1	C	ENST00000282041	Transcript	missense_variant	missense_variant	441/12633	406/7740	136/2579	K/E	Aag/Gag		1		-1	EPG5	HGNC	HGNC:29331	protein_coding	YES	CCDS11926.2	ENSP00000282041	Q9HCE0		UPI00004F6F8A	NM_020964.2	tolerated_low_confidence(0.41)	benign(0.051)	2/44																			MODERATE	1	SNV	2			1											PASS	GTTCTTGGGGG	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b			True	Unknown	C	3	2	55	45954996	45954996	T	C	1	0	0	0	0	1	0	0	0	5010	1821	63	4		4	EPG5	18	45954996	Missense_Mutation	SNP	T	TCGA-VD-AA8N-01A-11D-A39W-08		45954996	34418289	8	819											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	74	46	28	94			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b		COSM52969	True	Unknown	T	3	4	55	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-AA8N-01A-11D-A39W-08		3118944	55498672	9	820											
MORC3	23515	BI	GRCh38	chr21	36360005	36360005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcctgtctaaagtggcGgaaattacctgatgggatgg	14	6	1	2			TCGA-VD-AA8N-01A-11D-A39W-08	TCGA-VD-AA8N-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	9be75428-d098-4c1d-8a4c-884bfdbe9cc5	187c0920-5daf-4040-816e-45a8bb0846da	c.1259G>A	p.Arg420Gln	p.R420Q	ENST00000400485	11/17	150	83	67	116			MORC3,missense_variant,p.R420Q,ENST00000400485,NM_015358.2,c.1259G>A,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;AP000692.9,upstream_gene_variant,,ENST00000397184,,,MODIFIER,YES,,,1;MORC3,non_coding_transcript_exon_variant,,ENST00000487909,,n.1220G>A,MODIFIER,,,,1;MORC3,non_coding_transcript_exon_variant,,ENST00000485299,,n.643G>A,MODIFIER,,,,1;MORC3,upstream_gene_variant,,ENST00000484028,,,MODIFIER,,,,1	A	ENST00000400485	Transcript	missense_variant	missense_variant	1335/4246	1259/2820	420/939	R/Q	cGg/cAg		1		1	MORC3	HGNC	HGNC:23572	protein_coding	YES	CCDS42924.1	ENSP00000383333	Q14149		UPI0000167F94	NM_015358.2	deleterious(0)	probably_damaging(0.993)	11/17		Pfam_domain:PF07496;PROSITE_profiles:PS51050																	MODERATE	1	SNV	1			1											PASS	GTGGCGGAAAT	3ea6ed16-7c72-4ddd-811a-6214ddaafcef	13959442-2d75-4cb9-8d9b-5237d4432011	c620a90d-309c-4ca0-a349-9dd153d36b36	1dbd7b0e-9234-47d9-bdca-5b17f5af619b		COSM245749	True	Unknown	A	3	1	55	36360005	36360005	G	A	1	0	0	0	0	1	0	0	0	9667	1116	39	2		2	MORC3	21	36360005	Missense_Mutation	SNP	G	TCGA-VD-AA8N-01A-11D-A39W-08		36360005	10349978	10	821											
ASPM	259266	BI	GRCh38	chr1	197142406	197142406	+	Missense_Mutation	SNP	T	T	G													tgttgtcacattttttgtttTcttaacagctgatgttttag					novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.1846A>C	p.Lys616Gln	p.K616Q	ENST00000367409	3/28	166	78	88	184			ASPM,missense_variant,p.K616Q,ENST00000367409,NM_018136.4,c.1846A>C,MODERATE,YES,tolerated(0.11),benign(0.192),-1;ASPM,missense_variant,p.K616Q,ENST00000294732,NM_001206846.1,c.1846A>C,MODERATE,,tolerated(0.11),benign(0.134),-1;ASPM,intron_variant,,ENST00000612785,,c.561+1285A>C,MODIFIER,,,,-1;RP11-32D17.4,upstream_gene_variant,,ENST00000442280,,,MODIFIER,YES,,,-1	G	ENST00000367409	Transcript	missense_variant	missense_variant	2103/10887	1846/10434	616/3477	K/Q	Aaa/Caa		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4	tolerated(0.11)	benign(0.192)	3/28																			MODERATE	1	SNV	1			1											PASS	TGTTTTCTTAA	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	G	3	3	56	197142406	197142406	T	G	1	0	0	0	0	1	0	0	0	1203	1792	62	5		5	ASPM	1	197142406	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		197142406	51814016	1	822	12	2									
ASPM	259266	BI	GRCh38	chr1	197142407	197142407	+	Silent	SNP	C	C	T													gttgtcacattttttgttttCttaacagctgatgttttagg					novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.1845G>A	p.=	p.K615K	ENST00000367409	3/28	168	80	88	183			ASPM,synonymous_variant,p.K615K,ENST00000367409,NM_018136.4,c.1845G>A,LOW,YES,,,-1;ASPM,synonymous_variant,p.K615K,ENST00000294732,NM_001206846.1,c.1845G>A,LOW,,,,-1;ASPM,intron_variant,,ENST00000612785,,c.561+1284G>A,MODIFIER,,,,-1;RP11-32D17.4,upstream_gene_variant,,ENST00000442280,,,MODIFIER,YES,,,-1	T	ENST00000367409	Transcript	synonymous_variant	synonymous_variant	2102/10887	1845/10434	615/3477	K	aaG/aaA		1		-1	ASPM	HGNC	HGNC:19048	protein_coding	YES	CCDS1389.1	ENSP00000356379	Q8IZT6		UPI0000458904	NM_018136.4			3/28																			LOW	1	SNV	1			1											PASS	GTTTTCTTAAC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	T	2	4	56	197142407	197142407	C	T	1	0	0	0	0	0	0	0	1	1203	912	32	3		3	ASPM	1	197142407	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	1	197142407	51814015	2	823	12	2									
RNF25	64320	BI	GRCh38	chr2	218664797	218664797	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaggtcaatgattccccccCgctcctgctgcctctggtag	9	16	2	1	rs147462219	by1000G;byCluster	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.743G>C	p.Arg248Pro	p.R248P	ENST00000295704	9/10	70	50	20	49			RNF25,missense_variant,p.R248P,ENST00000295704,NM_022453.2,c.743G>C,MODERATE,YES,deleterious(0),possibly_damaging(0.763),-1;BCS1L,downstream_gene_variant,,ENST00000431802,,,MODIFIER,YES,,,1;BCS1L,downstream_gene_variant,,ENST00000392111,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000392109,NM_004328.4&NM_001257343.1,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000392110,NM_001257342.1,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000439945,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000359273,NM_001257344.1&NM_001079866.1,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000412366,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000430322,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000456050,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000428880,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000426649,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000423377,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000443791,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000436603,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000465706,,,MODIFIER,,,,1;RNF25,non_coding_transcript_exon_variant,,ENST00000473034,,n.1105G>C,MODIFIER,,,,-1;RNF25,non_coding_transcript_exon_variant,,ENST00000474339,,n.105G>C,MODIFIER,,,,-1;BCS1L,downstream_gene_variant,,ENST00000460579,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000477422,,,MODIFIER,,,,1;RNF25,downstream_gene_variant,,ENST00000463188,,,MODIFIER,,,,-1;BCS1L,downstream_gene_variant,,ENST00000471576,,,MODIFIER,,,,1;BCS1L,downstream_gene_variant,,ENST00000490188,,,MODIFIER,,,,1;RNF25,downstream_gene_variant,,ENST00000423170,,,MODIFIER,,,,-1;BCS1L,downstream_gene_variant,,ENST00000493376,,,MODIFIER,,,,1;RNF25,downstream_gene_variant,,ENST00000497832,,,MODIFIER,,,,-1	G	ENST00000295704	Transcript	missense_variant	missense_variant	1184/1914	743/1380	248/459	R/P	cGg/cCg	rs147462219	1		-1	RNF25	HGNC	HGNC:14662	protein_coding	YES	CCDS2420.1	ENSP00000295704	Q96BH1		UPI000013431F	NM_022453.2	deleterious(0)	possibly_damaging(0.763)	9/10																			MODERATE	1	SNV	1			1	2.471e-05	2.471e-05	0	0	0	0	4.496e-05	0	0		panel_of_normals	CCCCCCGCTCC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf	gdc_pon		True	Unknown	G	3	3	56	218664797	218664797	C	G	1	0	0	0	0	1	0	0	0	13665	652	23	5		5	RNF25	2	218664797	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		218664797	23528732	3	824											
HTR3E	285242	BI	GRCh38	chr3	184101493	184101493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttggcagaatgaacaGctgcacctcttgtcatcatt	7	10	4	2	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.243G>T	p.Gln81His	p.Q81H	ENST00000415389	3/9	90	55	35	121			HTR3E,missense_variant,p.Q81H,ENST00000415389,NM_001256613.1,c.243G>T,MODERATE,,tolerated(0.13),benign(0.062),1;HTR3E,missense_variant,p.Q96H,ENST00000335304,NM_182589.2,c.288G>T,MODERATE,,tolerated(0.13),benign(0.029),1;HTR3E,missense_variant,p.Q10H,ENST00000431041,,c.30G>T,MODERATE,,tolerated(0.1),benign(0.062),1;HTR3E,intron_variant,,ENST00000440596,NM_001256614.1,c.279+842G>T,MODIFIER,YES,,,1;HTR3E,intron_variant,,ENST00000436361,NM_198314.2,c.279+842G>T,MODIFIER,,,,1;HTR3E,intron_variant,,ENST00000425359,NM_198313.2,c.234+842G>T,MODIFIER,,,,1;HTR3E-AS1,intron_variant,,ENST00000431427,,n.282+2667C>A,MODIFIER,YES,,,-1	T	ENST00000415389	Transcript	missense_variant	missense_variant	709/2139	243/1371	81/456	Q/H	caG/caT		1		1	HTR3E	HGNC	HGNC:24005	protein_coding		CCDS58868.1	ENSP00000401444	A5X5Y0		UPI000156575F	NM_001256613.1	tolerated(0.13)	benign(0.062)	3/9		Pfam_domain:PF02931;Superfamily_domains:SSF63712																	MODERATE		SNV	1			1											PASS	GAACAGCTGCA	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	T	3	4	56	184101493	184101493	G	T	1	0	0	0	0	1	0	0	0	7344	962	34	5		5	HTR3E	3	184101493	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		184101493	14194066	4	825											
GAB1	2549	BI	GRCh38	chr4	143415642	143415642	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catttaacaaaaaagagtttGaaaacagctacatttttgat	5	5	0	3	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.238G>A	p.Glu80Lys	p.E80K	ENST00000262994	2/10	39	24	15	51			GAB1,missense_variant,p.E80K,ENST00000262995,NM_207123.2,c.238G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;GAB1,missense_variant,p.E80K,ENST00000262994,NM_002039.3,c.238G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;GAB1,missense_variant,p.E59K,ENST00000509992,,c.175G>A,MODERATE,,deleterious(0),possibly_damaging(0.475),1;GAB1,missense_variant,p.E80K,ENST00000514639,,c.238G>A,MODERATE,,deleterious(0),possibly_damaging(0.896),1;GAB1,5_prime_UTR_variant,,ENST00000505913,,c.-72G>A,MODIFIER,,,,1;GAB1,5_prime_UTR_variant,,ENST00000515366,,c.-72G>A,MODIFIER,,,,1;GAB1,missense_variant,p.E46K,ENST00000511836,,c.134G>A,MODERATE,,tolerated(0.11),probably_damaging(0.969),1	A	ENST00000262994	Transcript	missense_variant	missense_variant	540/2648	238/2085	80/694	E/K	Gaa/Aaa		1		1	GAB1	HGNC	HGNC:4066	protein_coding		CCDS3759.1	ENSP00000262994	Q13480		UPI000013D37B	NM_002039.3	deleterious(0)	probably_damaging(0.997)	2/10		Pfam_domain:PF00169;PROSITE_profiles:PS50003;SMART_domains:SM00233;Superfamily_domains:SSF50729																	MODERATE		SNV	1			1											PASS	AGTTTGAAAAC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	A	3	1	56	143415642	143415642	G	A	1	0	0	0	0	1	0	0	0	6019	1291	45	3		3	GAB1	4	143415642	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		143415642	46798913	5	826											
ZNF474	133923	BI	GRCh38	chr5	122152780	122152830	+	In_Frame_Del	DEL	CAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAAT	CAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAAT	-													agctccaccagccactcccaCagaagcctcagccccttccg					novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.792_842delGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAATCA	p.Lys265_Gln281del	p.K265_Q281del	ENST00000296600	2/2	53	45	8	58			ZNF474,inframe_deletion,p.K265_Q281del,ENST00000296600,NM_207317.1,c.792_842delGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAATCA,MODERATE,YES,,,1;ZNF474,downstream_gene_variant,,ENST00000505843,,,MODIFIER,,,,1;ZNF474,downstream_gene_variant,,ENST00000504912,,,MODIFIER,,,,1;CTC-441N14.2,intron_variant,,ENST00000504829,,n.233+1794_233+1844delATTTGGTCCCGCTTGGCTGGACTGTGCATTCGGAAGGGGCTGAGGCTTCTG,MODIFIER,YES,,,-1;CTC-441N14.1,downstream_gene_variant,,ENST00000505209,,,MODIFIER,YES,,,-1;ZNF474,intron_variant,,ENST00000514925,,n.155+911_155+961delGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAATCA,MODIFIER,,,,1;CTC-441N14.4,upstream_gene_variant,,ENST00000515596,,,MODIFIER,,,,1	-	ENST00000296600	Transcript	inframe_deletion	inframe_deletion	1173-1223/1964	790-840/1095	264-280/364	QKPQPLPNAQSSQAGPN/-	CAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAAT/-		1		1	ZNF474	HGNC	HGNC:23245	protein_coding	YES	CCDS4130.1	ENSP00000296600	Q6S9Z5		UPI0000160642	NM_207317.1			2/2		Low_complexity_(Seg):Seg																	MODERATE	1	deletion	1	2		1											PASS	CTCCCACAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAATCAAGC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			False	Unknown	-	7	5	56	122152780	122152780	CAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAAT	-	1	0	1	0	1	0	0	0	0	18504	479	17	0		0	ZNF474	5	122152780	In_Frame_Del	DEL	CAGAAGCCTCAGCCCCTTCCGAATGCACAGTCCAGCCAAGCGGGACCAAAT	TCGA-VD-AA8O-01A-11D-A39W-08		122152780	59385479	6	827											
FAM217A	222826	BI	GRCh38	chr6	4069572	4069572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtccacctttttaaaataGctgagtaaagtatcatttgt	7	6	1	1	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.651C>G	p.Ser217Arg	p.S217R	ENST00000274673	7/7	85	58	27	104			FAM217A,missense_variant,p.S217R,ENST00000274673,NM_173563.2,c.651C>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.897),-1;FAM217A,downstream_gene_variant,,ENST00000492651,,,MODIFIER,,,,-1;FAM217A,downstream_gene_variant,,ENST00000498677,,,MODIFIER,,,,-1;FAM217A,non_coding_transcript_exon_variant,,ENST00000380188,,n.1060C>G,MODIFIER,,,,-1;FAM217A,intron_variant,,ENST00000469157,,n.391+3703C>G,MODIFIER,,,,-1;PRPF4B,downstream_gene_variant,,ENST00000461612,,,MODIFIER,,,,1;FAM217A,downstream_gene_variant,,ENST00000478714,,,MODIFIER,,,,-1;PRPF4B,downstream_gene_variant,,ENST00000480058,,,MODIFIER,,,,1;PRPF4B,downstream_gene_variant,,ENST00000463634,,,MODIFIER,,,,1;PRPF4B,downstream_gene_variant,,ENST00000481109,,,MODIFIER,,,,1	C	ENST00000274673	Transcript	missense_variant	missense_variant	1055/2265	651/1527	217/508	S/R	agC/agG		1		-1	FAM217A	HGNC	HGNC:21362	protein_coding	YES	CCDS4489.1	ENSP00000274673	Q8IXS0		UPI0000160AA7	NM_173563.2	deleterious(0.01)	possibly_damaging(0.897)	7/7																			MODERATE	1	SNV	1			1											PASS	AAATAGCTGAG	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	C	3	2	56	4069572	4069572	G	C	1	0	0	0	0	1	0	0	0	5406	962	34	5		5	FAM217A	6	4069572	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		4069572	166736407	7	828											
ARPC1B	10095	BI	GRCh38	chr7	99388198	99388198	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccccaacgagaacaAgtttgctgtgggcagcggct	14	12	0	1	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.329A>G	p.Lys110Arg	p.K110R	ENST00000252725	4/10	73	46	27	50			ARPC1B,missense_variant,p.K110R,ENST00000451682,,c.329A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.85),1;ARPC1B,missense_variant,p.K110R,ENST00000252725,NM_005720.3,c.329A>G,MODERATE,,deleterious(0),possibly_damaging(0.85),1;ARPC1B,missense_variant,p.K110R,ENST00000431816,,c.329A>G,MODERATE,,,,1;ARPC1B,missense_variant,p.K110R,ENST00000455009,,c.329A>G,MODERATE,,deleterious(0.02),possibly_damaging(0.85),1;ARPC1B,missense_variant,p.K110R,ENST00000458033,,c.329A>G,MODERATE,,,,1;ARPC1B,missense_variant,p.K110R,ENST00000417330,,c.329A>G,MODERATE,,deleterious(0.02),possibly_damaging(0.85),1;ARPC1B,missense_variant,p.K110R,ENST00000427217,,c.329A>G,MODERATE,,,,1;ARPC1B,downstream_gene_variant,,ENST00000443222,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000414376,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000418347,,,MODIFIER,,,,1;ARPC1B,downstream_gene_variant,,ENST00000429246,,,MODIFIER,,,,1;ARPC1B,non_coding_transcript_exon_variant,,ENST00000474880,,n.344A>G,MODIFIER,,,,1;ARPC1B,non_coding_transcript_exon_variant,,ENST00000493403,,n.487A>G,MODIFIER,,,,1;PDAP1,downstream_gene_variant,,ENST00000496335,,,MODIFIER,,,,-1;ARPC1B,missense_variant,p.K110R,ENST00000432343,,c.329A>G,MODERATE,,deleterious(0.02),possibly_damaging(0.85),1;ARPC1B,3_prime_UTR_variant,,ENST00000445924,,c.*328A>G,MODIFIER,,,,1;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484375,,n.417A>G,MODIFIER,,,,1;ARPC1B,non_coding_transcript_exon_variant,,ENST00000484600,,n.394A>G,MODIFIER,,,,1;ARPC1A,downstream_gene_variant,,ENST00000441989,,,MODIFIER,,,,1;ARPC1B,upstream_gene_variant,,ENST00000491294,,,MODIFIER,,,,1;ARPC1B,upstream_gene_variant,,ENST00000481997,,,MODIFIER,,,,1;ARPC1B,upstream_gene_variant,,ENST00000468337,,,MODIFIER,,,,1	G	ENST00000252725	Transcript	missense_variant	missense_variant	449/1551	329/1119	110/372	K/R	aAg/aGg		1		1	ARPC1B	HGNC	HGNC:704	protein_coding		CCDS5661.1	ENSP00000252725	O15143	A4D275	UPI0000125D33	NM_005720.3	deleterious(0)	possibly_damaging(0.85)	4/10		Pfam_domain:PF00400;SMART_domains:SM00320;Superfamily_domains:SSF50978;PIRSF_domain:PIRSF038093																	MODERATE		SNV	1			1											PASS	GAACAAGTTTG	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	G	3	3	56	99388198	99388198	A	G	1	0	0	0	0	1	0	0	0	1112	72	3	4		4	ARPC1B	7	99388198	Missense_Mutation	SNP	A	TCGA-VD-AA8O-01A-11D-A39W-08		99388198	59957775	8	829											
STRIP2	57464	BI	GRCh38	chr7	129485631	129485631	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgtaccttgagggcCaacattgaggcttttaacag	11	7	0	3	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.2307C>T	p.=	p.A769A	ENST00000249344	21/21	92	75	17	59			STRIP2,synonymous_variant,p.A769A,ENST00000249344,NM_020704.2,c.2307C>T,LOW,YES,,,1;STRIP2,downstream_gene_variant,,ENST00000435494,NM_001134336.1,,MODIFIER,,,,1;RNU1-72P,downstream_gene_variant,,ENST00000362976,,,MODIFIER,YES,,,1	T	ENST00000249344	Transcript	synonymous_variant	synonymous_variant	2347/5115	2307/2505	769/834	A	gcC/gcT		1		1	STRIP2	HGNC	HGNC:22209	protein_coding	YES	CCDS34752.1	ENSP00000249344	Q9ULQ0		UPI00001C1E68	NM_020704.2			21/21		Pfam_domain:PF11882																	LOW	1	SNV	1			1											PASS	AGGGCCAACAT	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	T	2	4	56	129485631	129485631	C	T	1	0	0	0	0	0	0	0	1	15711	581	21	3		3	STRIP2	7	129485631	Silent	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	30097433	129485631	29860342	9	830											
PLXNA4	91584	BI	GRCh38	chr7	132226218	132226218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcgaaggtcatgccgGtctcctttgatttgagctga	13	9	2	3	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.1925C>T	p.Thr642Ile	p.T642I	ENST00000321063	8/32	164	89	75	117			PLXNA4,missense_variant,p.T642I,ENST00000359827,,c.1925C>T,MODERATE,YES,deleterious(0.04),probably_damaging(0.999),-1;PLXNA4,missense_variant,p.T642I,ENST00000321063,NM_020911.1,c.1925C>T,MODERATE,,deleterious(0.04),probably_damaging(0.999),-1	A	ENST00000321063	Transcript	missense_variant	missense_variant	2154/13061	1925/5685	642/1894	T/I	aCc/aTc		1		-1	PLXNA4	HGNC	HGNC:9102	protein_coding		CCDS43646.1	ENSP00000323194	Q9HCM2	A0A024R7A6	UPI000004E55B	NM_020911.1	deleterious(0.04)	probably_damaging(0.999)	8/32																			MODERATE		SNV	5			1											PASS	TGCCGGTCTCC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	A	3	1	56	132226218	132226218	G	A	1	0	0	0	0	1	0	0	0	12228	1261	44	3		3	PLXNA4	7	132226218	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08	2740587	132226218	27119755	10	831											
ASIC1	41	BI	GRCh38	chr12	50059937	50059937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccggggggaggtctgcagcGctgaagacttcaaggtggtg	18	8	2	2	rs764353781	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.541G>A	p.Ala181Thr	p.A181T	ENST00000447966	3/12	20	2	18	47			ASIC1,missense_variant,p.A181T,ENST00000228468,NM_020039.3,c.541G>A,MODERATE,YES,deleterious(0.03),benign(0.221),1;ASIC1,missense_variant,p.A181T,ENST00000447966,NM_001095.3,c.541G>A,MODERATE,,deleterious(0.03),benign(0.23),1;ASIC1,missense_variant,p.A18T,ENST00000453327,,c.51G>A,MODERATE,,deleterious(0.03),benign(0.145),1;ASIC1,missense_variant,p.A181T,ENST00000550558,,c.541G>A,MODERATE,,tolerated(0.38),probably_damaging(0.922),1	A	ENST00000447966	Transcript	missense_variant	missense_variant	770/3778	541/1587	181/528	A/T	Gct/Act	rs764353781	1		1	ASIC1	HGNC	HGNC:100	protein_coding		CCDS44876.1	ENSP00000400228	P78348		UPI000016199C	NM_001095.3	deleterious(0.03)	benign(0.23)	3/12		Pfam_domain:PF00858;TIGRFAM_domain:TIGR00859																	MODERATE		SNV	1			1	1.647e-05	1.655e-05	9.639e-05	0	0	0	1.505e-05	0	0		PASS	GCAGCGCTGAA	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	A	3	1	56	50059937	50059937	G	A	1	0	0	0	0	1	0	0	0	1185	1087	38	2		2	ASIC1	12	50059937	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		50059937	83215372	11	832											
CYSLTR2	57105	BI	GRCh38	chr13	48707203	48707203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	11	8	0	2			TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.386T>A	p.Leu129Gln	p.L129Q	ENST00000282018	1/1	195	148	47	156			CYSLTR2,missense_variant,p.L129Q,ENST00000282018,NM_020377.2,c.386T>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CYSLTR2,missense_variant,p.L129Q,ENST00000614739,,c.386T>A,MODERATE,,deleterious(0),probably_damaging(1),1;CYSLTR2,downstream_gene_variant,,ENST00000622559,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000617562,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000621321,,,MODIFIER,,,,1	A	ENST00000282018	Transcript	missense_variant	missense_variant	649/4672	386/1041	129/346	L/Q	cTg/cAg		1		1	CYSLTR2	HGNC	HGNC:18274	protein_coding	YES	CCDS9412.1	ENSP00000282018	Q9NS75	Q5KU17	UPI000003BCCC	NM_020377.2	deleterious(0)	probably_damaging(1)	1/1		Pfam_domain:PF00001;Pfam_domain:PF05296;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Prints_domain:PR00237;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TTTCCTGACCG	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf		COSM1666392	True	Unknown	A	3	1	56	48707203	48707203	T	A	1	0	0	0	0	1	0	0	0	4005	1580	55	5		5	CYSLTR2	13	48707203	Missense_Mutation	SNP	T	TCGA-VD-AA8O-01A-11D-A39W-08		48707203	65657125	12	833											
KCNH5	27133	BI	GRCh38	chr14	62950522	62950522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggcccagtcgtaagagaCgcaccacttttaaagaactg	9	12	0	2	rs587777164		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.980G>A	p.Arg327His	p.R327H	ENST00000322893	7/11	69	56	13	31			KCNH5,missense_variant,p.R327H,ENST00000322893,NM_139318.4,c.980G>A,MODERATE,YES,deleterious(0),probably_damaging(0.992),-1;KCNH5,missense_variant,p.R327H,ENST00000420622,NM_172375.2,c.980G>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;KCNH5,missense_variant,p.R269H,ENST00000394968,,c.806G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;KCNH5,non_coding_transcript_exon_variant,,ENST00000394964,,n.1145G>A,MODIFIER,,,,-1	T	ENST00000322893	Transcript	missense_variant	missense_variant	1249/11290	980/2967	327/988	R/H	cGt/cAt	rs587777164	1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	deleterious(0)	probably_damaging(0.992)	7/11		Low_complexity_(Seg):Seg;Pfam_domain:PF00520;Superfamily_domains:SSF81324										uncertain_significance							MODERATE	1	SNV	1		1	1											PASS	AGAGACGCACC	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf		COSM1370447;COSM1370448	True	Unknown	T	3	4	56	62950522	62950522	C	T	1	0	0	0	0	1	0	0	0	7951	536	19	1		1	KCNH5	14	62950522	Missense_Mutation	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08		62950522	44093196	13	834											
ABR	29	BI	GRCh38	chr17	1056999	1056999	+	Splice_Region	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggttcccgagcttaccGtctttattgctggtgacagg	11	11	2	1	rs771481181	byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.1485C>T	p.=	p.D495D	ENST00000302538	13/23	236	141	95	187			ABR,splice_region_variant,p.D449D,ENST00000544583,NM_001159746.2,c.1347C>T,LOW,,,,-1;ABR,splice_region_variant,p.D495D,ENST00000302538,NM_021962.4,c.1485C>T,LOW,YES,,,-1;ABR,splice_region_variant,p.D449D,ENST00000574437,,c.1347C>T,LOW,,,,-1;ABR,splice_region_variant,p.D458D,ENST00000291107,NM_001092.4,c.1374C>T,LOW,,,,-1;ABR,splice_region_variant,p.D277D,ENST00000536794,NM_001282149.1,c.831C>T,LOW,,,,-1;ABR,splice_region_variant,p.D162D,ENST00000574544,,c.484C>T,LOW,,,,-1;ABR,intron_variant,,ENST00000576964,,n.525-6856C>T,MODIFIER,,,,-1;ABR,splice_region_variant,,ENST00000573895,,n.182C>T,LOW,,,,-1;ABR,splice_region_variant,,ENST00000575770,,c.*162C>T,LOW,,,,-1	A	ENST00000302538	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	1632/5289	1485/2580	495/859	D	gaC/gaT	rs771481181	1		-1	ABR	HGNC	HGNC:81	protein_coding	YES	CCDS10999.1	ENSP00000303909	Q12979		UPI00001AED3D	NM_021962.4			13/23																			LOW	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	1.5e-05	0	6.069e-05		PASS	TTACCGTCTTT	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	A	5	1	56	1056999	1056999	G	A	1	0	0	0	0	0	0	1	0	108	1159	40	1		1	ABR	17	1056999	Splice_Region	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		1056999	82200442	14	835											
ILVBL	10994	BI	GRCh38	chr19	15119230	15119230	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccggatgtggaggggGtggttgcggcctaacagccc	16	11	1	0	novel		TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.987C>A	p.His329Gln	p.H329Q	ENST00000263383	9/16	112	105	7	110			ILVBL,missense_variant,p.H329Q,ENST00000263383,NM_006844.4,c.987C>A,MODERATE,YES,tolerated(0.06),possibly_damaging(0.653),-1;ILVBL,missense_variant,p.H222Q,ENST00000534378,,c.666C>A,MODERATE,,tolerated(0.07),possibly_damaging(0.653),-1;ILVBL,missense_variant,p.H112Q,ENST00000598709,,c.336C>A,MODERATE,,,,-1;SYDE1,downstream_gene_variant,,ENST00000600252,,,MODIFIER,,,,1;SYDE1,downstream_gene_variant,,ENST00000342784,NM_033025.4,,MODIFIER,YES,,,1;SYDE1,downstream_gene_variant,,ENST00000600440,NM_001300910.1,,MODIFIER,,,,1;ILVBL,downstream_gene_variant,,ENST00000527093,,,MODIFIER,,,,-1;ILVBL,downstream_gene_variant,,ENST00000533747,,,MODIFIER,,,,-1;ILVBL,downstream_gene_variant,,ENST00000600984,,,MODIFIER,,,,-1;AC003956.1,upstream_gene_variant,,ENST00000598450,,,MODIFIER,YES,,,1;ILVBL,downstream_gene_variant,,ENST00000531635,,,MODIFIER,,,,-1;ILVBL,3_prime_UTR_variant,,ENST00000533148,,c.*626C>A,MODIFIER,,,,-1;ILVBL,non_coding_transcript_exon_variant,,ENST00000533086,,n.1397C>A,MODIFIER,,,,-1;ILVBL,upstream_gene_variant,,ENST00000534806,,,MODIFIER,,,,-1;ILVBL,upstream_gene_variant,,ENST00000524779,,,MODIFIER,,,,-1;ILVBL,upstream_gene_variant,,ENST00000525880,,,MODIFIER,,,,-1;ILVBL,upstream_gene_variant,,ENST00000596093,,,MODIFIER,,,,-1	T	ENST00000263383	Transcript	missense_variant	missense_variant	1127/2304	987/1899	329/632	H/Q	caC/caA		1		-1	ILVBL	HGNC	HGNC:6041	protein_coding	YES	CCDS12325.1	ENSP00000263383	A1L0T0		UPI000007055E	NM_006844.4	tolerated(0.06)	possibly_damaging(0.653)	9/16		Pfam_domain:PF00205;Superfamily_domains:SSF52467																	MODERATE	1	SNV	1			1											PASS	AGGGGGTGGTT	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf			True	Unknown	T	3	4	56	15119230	15119230	G	T	1	0	0	0	0	1	0	0	0	7618	1252	44	5		5	ILVBL	19	15119230	Missense_Mutation	SNP	G	TCGA-VD-AA8O-01A-11D-A39W-08		15119230	43498386	15	836											
ERCC2	2068	BI	GRCh38	chr19	45352647	45352647	+	Splice_Region	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccgcaggtattccagccgCgcctgcagatacggaggatg	13	13	0	1	rs145835916	byCluster;byFrequency	TCGA-VD-AA8O-01A-11D-A39W-08	TCGA-VD-AA8O-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	3046d740-21c3-4cbc-ad95-ba8a09ea26b7	1b2ce204-93b3-4b49-a355-01c5e3a23176	c.1905G>A	p.=	p.A635A	ENST00000391945	21/23	37	29	8	38			ERCC2,splice_region_variant,p.A635A,ENST00000391945,NM_000400.3,c.1905G>A,LOW,YES,,,-1;ERCC2,splice_region_variant,p.A611A,ENST00000391941,,c.1833G>A,LOW,,,,-1;ERCC2,splice_region_variant,p.A557A,ENST00000391944,,c.1671G>A,LOW,,,,-1;KLC3,downstream_gene_variant,,ENST00000589373,,,MODIFIER,,,,1;KLC3,downstream_gene_variant,,ENST00000470402,,,MODIFIER,,,,1;KLC3,downstream_gene_variant,,ENST00000391946,NM_177417.2,,MODIFIER,YES,,,1;KLC3,downstream_gene_variant,,ENST00000585434,,,MODIFIER,,,,1;KLC3,downstream_gene_variant,,ENST00000589837,,,MODIFIER,,,,1;ERCC2,splice_region_variant,,ENST00000588652,,n.1993G>A,LOW,,,,-1;ERCC2,splice_region_variant,,ENST00000391942,,n.1076G>A,LOW,,,,-1;ERCC2,downstream_gene_variant,,ENST00000587376,,,MODIFIER,,,,-1	T	ENST00000391945	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	1983/4153	1905/2283	635/760	A	gcG/gcA	rs145835916	1		-1	ERCC2	HGNC	HGNC:3434	protein_coding	YES	CCDS33049.1	ENSP00000375809	P18074		UPI0000139012	NM_000400.3			21/23		TIGRFAM_domain:TIGR00604;SMART_domains:SM00491;Superfamily_domains:SSF52540								0	9e-04								LOW	1	SNV	1			1	0.0001894	0.0001828	9.796e-05	0	0	0	0.0003182	0	0		panel_of_normals	AGCCGCGCCTG	da68f9ec-a554-4f7e-8cfe-1c6ef9d88c5e	37373758-bb5b-4324-a1ed-c86bac68a5ba	297b059c-a608-4494-a9b8-4f910c6f5908	99d1bfcc-1989-4dd2-a5e9-78e08f6ce7cf	gdc_pon	COSM4079335	True	Unknown	T	5	4	56	45352647	45352647	C	T	1	0	0	0	0	0	0	1	0	5062	782	27	2		2	ERCC2	19	45352647	Splice_Region	SNP	C	TCGA-VD-AA8O-01A-11D-A39W-08	30233417	45352647	13264969	16	837											
CTDSP1	58190	BI	GRCh38	chr2	218403404	218403404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctcctatgtcttccAtccagacaatgctgtgagtg	8	13	1	2	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.644A>G	p.His215Arg	p.H215R	ENST00000273062	6/7	39	24	15	35			CTDSP1,missense_variant,p.H215R,ENST00000273062,NM_182642.2&NM_021198.2,c.644A>G,MODERATE,YES,deleterious(0.04),benign(0.267),1;CTDSP1,missense_variant,p.H214R,ENST00000443891,NM_001206878.1,c.641A>G,MODERATE,,deleterious(0),benign(0.267),1;CTDSP1,missense_variant,p.H216R,ENST00000428361,,c.646A>G,MODERATE,,deleterious(0),possibly_damaging(0.796),1;CTDSP1,missense_variant,p.H208R,ENST00000452977,,c.622A>G,MODERATE,,deleterious(0),benign(0.174),1;CTDSP1,downstream_gene_variant,,ENST00000431127,,,MODIFIER,,,,1;MIR26B,downstream_gene_variant,,ENST00000362251,,,MODIFIER,YES,,,1;RP11-378A13.2,upstream_gene_variant,,ENST00000608367,,,MODIFIER,YES,,,-1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000488627,,n.628A>G,MODIFIER,,,,1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000464255,,n.622A>G,MODIFIER,,,,1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000498160,,n.866A>G,MODIFIER,,,,1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000491064,,n.651A>G,MODIFIER,,,,1;CTDSP1,downstream_gene_variant,,ENST00000473420,,,MODIFIER,,,,1;CTDSP1,downstream_gene_variant,,ENST00000492545,,,MODIFIER,,,,1;CTDSP1,downstream_gene_variant,,ENST00000496785,,,MODIFIER,,,,1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000497677,,n.661A>G,MODIFIER,,,,1;CTDSP1,non_coding_transcript_exon_variant,,ENST00000482272,,n.971A>G,MODIFIER,,,,1;CTDSP1,downstream_gene_variant,,ENST00000494067,,,MODIFIER,,,,1	G	ENST00000273062	Transcript	missense_variant	missense_variant	980/2638	644/786	215/261	H/R	cAt/cGt		1		1	CTDSP1	HGNC	HGNC:21614	protein_coding	YES	CCDS2416.1	ENSP00000273062	Q9GZU7	A0A024R461	UPI000013007C	NM_182642.2;NM_021198.2	deleterious(0.04)	benign(0.267)	6/7		Pfam_domain:PF03031;TIGRFAM_domain:TIGR02251;PROSITE_profiles:PS50969;SMART_domains:SM00577;Superfamily_domains:SSF56784																	MODERATE	1	SNV	1			1											PASS	CTTCCATCCAG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	G	3	3	57	218403404	218403404	A	G	1	0	0	0	0	1	0	0	0	3811	217	8	4		4	CTDSP1	2	218403404	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		218403404	23790125	1	838											
FAM212A	389119	BI	GRCh38	chr3	49804788	49804788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgtgcccgtgctcggcCccctcagttcctgcttggcc	11	19	1	0	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.665C>A	p.Pro222His	p.P222H	ENST00000333323	2/2	54	4	50	96			FAM212A,missense_variant,p.P222H,ENST00000333323,NM_203370.1,c.665C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),1;UBA7,downstream_gene_variant,,ENST00000333486,NM_003335.2,,MODIFIER,YES,,,-1;CDHR4,upstream_gene_variant,,ENST00000412678,NM_001007540.2,,MODIFIER,YES,,,-1;CDHR4,upstream_gene_variant,,ENST00000343366,,,MODIFIER,,,,-1;CDHR4,upstream_gene_variant,,ENST00000487256,,,MODIFIER,,,,-1;MIR5193,downstream_gene_variant,,ENST00000584510,,,MODIFIER,YES,,,-1;UBA7,downstream_gene_variant,,ENST00000483751,,,MODIFIER,,,,-1;UBA7,downstream_gene_variant,,ENST00000488536,,,MODIFIER,,,,-1;UBA7,downstream_gene_variant,,ENST00000478875,,,MODIFIER,,,,-1;UBA7,downstream_gene_variant,,ENST00000497908,,,MODIFIER,,,,-1;UBA7,downstream_gene_variant,,ENST00000473992,,,MODIFIER,,,,-1	A	ENST00000333323	Transcript	missense_variant	missense_variant	798/1040	665/864	222/287	P/H	cCc/cAc		1		1	FAM212A	HGNC	HGNC:32480	protein_coding	YES	CCDS2804.1	ENSP00000329735	Q96EL1		UPI00001D7F30	NM_203370.1	deleterious(0.01)	probably_damaging(0.999)	2/2																			MODERATE	1	SNV	1			1											PASS	TCGGCCCCCTC	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	A	3	1	57	49804788	49804788	C	A	1	0	0	0	0	1	0	0	0	5398	623	22	5		5	FAM212A	3	49804788	Missense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		49804788	148490771	2	839											
TWF2	11344	BI	GRCh38	chr3	52229143	52229143	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggcgtgttgcttgGggtgcacctcgtcgtagagg	17	8	0	2	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.941C>G	p.Pro314Arg	p.P314R	ENST00000305533	9/9	36	3	33	91			TWF2,missense_variant,p.P314R,ENST00000305533,NM_007284.3,c.941C>G,MODERATE,YES,deleterious(0),probably_damaging(1),-1;TWF2,3_prime_UTR_variant,,ENST00000499914,,c.*54C>G,MODIFIER,,,,-1;RP11-330H6.5,intron_variant,,ENST00000494383,,c.463+518C>G,MODIFIER,YES,,,-1;TLR9,upstream_gene_variant,,ENST00000360658,NM_017442.3,,MODIFIER,YES,,,-1;RP11-330H6.5,intron_variant,,ENST00000478201,,c.113+518C>G,MODIFIER,,,,-1;TWF2,downstream_gene_variant,,ENST00000472755,,,MODIFIER,,,,-1	C	ENST00000305533	Transcript	missense_variant	missense_variant	1185/1718	941/1050	314/349	P/R	cCc/cGc		1		-1	TWF2	HGNC	HGNC:9621	protein_coding	YES	CCDS2849.1	ENSP00000303908	Q6IBS0			NM_007284.3	deleterious(0)	probably_damaging(1)	9/9		Superfamily_domains:SSF55753																	MODERATE	1	SNV	1			1											PASS	GCTTGGGGTGC	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	C	3	2	57	52229143	52229143	G	C	1	0	0	0	0	1	0	0	0	17297	1232	43	5		5	TWF2	3	52229143	Missense_Mutation	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	2424355	52229143	146066416	3	840											
FAM13B	51306	BI	GRCh38	chr5	137952697	137952697	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttggattggcagcaatatCactgtaggagggctgaaaaa	12	6	1	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.1795G>T	p.Asp599Tyr	p.D599Y	ENST00000033079	16/23	58	5	53	153			FAM13B,missense_variant,p.D599Y,ENST00000033079,NM_016603.2,c.1795G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.836),-1;FAM13B,missense_variant,p.D599Y,ENST00000420893,NM_001101800.1,c.1795G>T,MODERATE,,deleterious(0),possibly_damaging(0.878),-1;FAM13B,missense_variant,p.D503Y,ENST00000425075,NM_001101801.1,c.1507G>T,MODERATE,,deleterious(0),probably_damaging(0.985),-1;FAM13B,downstream_gene_variant,,ENST00000505281,,,MODIFIER,,,,-1	A	ENST00000033079	Transcript	missense_variant	missense_variant	2247/5465	1795/2748	599/915	D/Y	Gat/Tat		1		-1	FAM13B	HGNC	HGNC:1335	protein_coding	YES	CCDS4195.1	ENSP00000033079	Q9NYF5		UPI000004A03C	NM_016603.2	deleterious(0)	possibly_damaging(0.836)	16/23																			MODERATE	1	SNV	1			1											PASS	AATATCACTGT	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	A	3	1	57	137952697	137952697	C	A	1	0	0	0	0	1	0	0	0	5302	826	29	5		5	FAM13B	5	137952697	Missense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		137952697	43585562	4	841											
SYBU	55638	BI	GRCh38	chr8	109577969	109577969	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatactgctctgggtttggGggtctgacaccatgattttc	11	8	2	2	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.783C>A	p.=	p.P261P	ENST00000276646	6/7	174	66	108	114			SYBU,synonymous_variant,p.P258P,ENST00000399066,NM_001099756.1,c.774C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P260P,ENST00000533895,NM_017786.5,c.780C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000422135,NM_001099744.1,c.783C>A,LOW,YES,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000433638,NM_001099750.1,c.783C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000440310,NM_001099752.1,c.783C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P266P,ENST00000424158,,c.798C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P260P,ENST00000528647,NM_001099751.1,c.780C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000408908,NM_001099748.1,c.783C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P260P,ENST00000446070,NM_001099753.1&NM_001099747.1&NM_001099743.1,c.780C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000276646,NM_001099754.1,c.783C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P142P,ENST00000408889,NM_001099746.1,c.426C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P193P,ENST00000532779,,c.579C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P55P,ENST00000529175,,c.165C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P142P,ENST00000533065,NM_001099755.1,c.426C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P142P,ENST00000528331,NM_001099749.1,c.426C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P261P,ENST00000533171,NM_001099745.1,c.783C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P131P,ENST00000529690,,c.393C>A,LOW,,,,-1;SYBU,synonymous_variant,p.P98P,ENST00000533394,,c.294C>A,LOW,,,,-1;SYBU,downstream_gene_variant,,ENST00000529190,,,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000532189,,,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000528045,,,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000528569,,,MODIFIER,,,,-1;SYBU,non_coding_transcript_exon_variant,,ENST00000527707,,n.433C>A,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000527664,,,MODIFIER,,,,-1;SYBU,3_prime_UTR_variant,,ENST00000532594,,c.*292C>A,MODIFIER,,,,-1;SYBU,downstream_gene_variant,,ENST00000528735,,,MODIFIER,,,,-1	T	ENST00000276646	Transcript	synonymous_variant	synonymous_variant	941/2870	783/1992	261/663	P	ccC/ccA		1		-1	SYBU	HGNC	HGNC:26011	protein_coding		CCDS47912.1	ENSP00000276646	Q9NX95		UPI00000407AB	NM_001099754.1			6/7																			LOW		SNV	1			1											panel_of_normals	TTTGGGGGTCT	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900	gdc_pon		True	Unknown	T	2	4	57	109577969	109577969	G	T	1	0	0	0	0	0	0	0	1	15815	1219	43	5		5	SYBU	8	109577969	Silent	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08		109577969	35560667	5	842											
TMEM2	23670	BI	GRCh38	chr9	71709387	71709387	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcacagagccatcaaTgtcatggaatatggagttct	9	9	4	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.2857A>G	p.Ile953Val	p.I953V	ENST00000377044	17/24	68	37	31	70			TMEM2,missense_variant,p.I953V,ENST00000377044,NM_013390.2,c.2857A>G,MODERATE,YES,tolerated(1),benign(0),-1;TMEM2,missense_variant,p.I890V,ENST00000377066,NM_001135820.1,c.2668A>G,MODERATE,,tolerated(1),benign(0.001),-1;TMEM2,missense_variant,p.I54V,ENST00000377043,,c.160A>G,MODERATE,,tolerated(1),benign(0.001),-1;TMEM2,upstream_gene_variant,,ENST00000396272,,,MODIFIER,,,,-1;TMEM2,upstream_gene_variant,,ENST00000377055,,,MODIFIER,,,,-1;TMEM2,3_prime_UTR_variant,,ENST00000542935,,c.*1080A>G,MODIFIER,,,,-1;TMEM2,non_coding_transcript_exon_variant,,ENST00000537329,,n.449A>G,MODIFIER,,,,-1;TMEM2,upstream_gene_variant,,ENST00000474495,,,MODIFIER,,,,-1	C	ENST00000377044	Transcript	missense_variant	missense_variant	3397/6523	2857/4152	953/1383	I/V	Att/Gtt		1		-1	TMEM2	HGNC	HGNC:11869	protein_coding	YES	CCDS6638.1	ENSP00000366243	Q9UHN6	A0A024R229	UPI0000071E8D	NM_013390.2	tolerated(1)	benign(0)	17/24		Superfamily_domains:SSF51126																	MODERATE	1	SNV	1			1											PASS	ATCAATGTCAT	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	C	3	2	57	71709387	71709387	T	C	1	0	0	0	0	1	0	0	0	16561	1464	51	4		4	TMEM2	9	71709387	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08		71709387	66685330	6	843											
ALG1	56052	BI	GRCh38	chr16	5071850	5071850	+	Translation_Start_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctgcgggccagccaagAtggcggcctcatgcttggtc	14	13	1	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.1A>G	p.Met1?	p.M1?	ENST00000262374	1/13	18	10	8	9			ALG1,start_lost,p.M1?,ENST00000262374,NM_019109.4,c.1A>G,HIGH,YES,tolerated_low_confidence(0.09),unknown(0),1;ALG1,start_lost,p.M1?,ENST00000586840,,c.1A>G,HIGH,,deleterious_low_confidence(0),unknown(0),1;ALG1,intron_variant,,ENST00000588623,,c.-125-1101A>G,MODIFIER,,,,1;ALG1,upstream_gene_variant,,ENST00000544428,,,MODIFIER,,,,1;ALG1,upstream_gene_variant,,ENST00000591783,,,MODIFIER,,,,1;ALG1,start_lost,p.M1?,ENST00000591822,,c.1A>G,HIGH,,tolerated_low_confidence(0.08),unknown(0),1;ALG1,non_coding_transcript_exon_variant,,ENST00000592793,,n.8A>G,MODIFIER,,,,1	G	ENST00000262374	Transcript	start_lost	start_lost	32/2132	1/1395	1/464	M/V	Atg/Gtg		1		1	ALG1	HGNC	HGNC:18294	protein_coding	YES	CCDS10528.1	ENSP00000262374	Q9BT22		UPI000003B09B	NM_019109.4	tolerated_low_confidence(0.09)	unknown(0)	1/13		Cleavage_site_(Signalp):Sigp																	HIGH	1	SNV	1			1											PASS	CCAAGATGGCG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	G	1	3	57	5071850	5071850	A	G	1	0	0	0	0	0	0	0	0	610	333	12	4		4	ALG1	16	5071850	Translation_Start_Site	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		5071850	85266495	7	844											
OSGIN1	29948	BI	GRCh38	chr16	83965637	83965637	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcctgtcgcccagcccctAtgagggttaccgcagcctcc	9	18	0	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.1313A>G	p.Tyr438Cys	p.Y438C	ENST00000343939	7/7	35	16	19	33			OSGIN1,missense_variant,p.Y438C,ENST00000343939,,c.1313A>G,MODERATE,,deleterious(0.04),probably_damaging(0.976),1;OSGIN1,missense_variant,p.Y355C,ENST00000361711,,c.1064A>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.976),1;OSGIN1,missense_variant,p.Y355C,ENST00000393306,NM_182981.2,c.1064A>G,MODERATE,,deleterious(0.01),probably_damaging(0.976),1;NECAB2,upstream_gene_variant,,ENST00000305202,NM_019065.2,,MODIFIER,YES,,,1;OSGIN1,downstream_gene_variant,,ENST00000565123,,,MODIFIER,,,,1;OSGIN1,downstream_gene_variant,,ENST00000567707,,,MODIFIER,,,,1	G	ENST00000343939	Transcript	missense_variant	missense_variant	1696/2391	1313/1683	438/560	Y/C	tAt/tGt		1		1	OSGIN1	HGNC	HGNC:30093	protein_coding			ENSP00000343376	Q9UJX0				deleterious(0.04)	probably_damaging(0.976)	7/7		Pfam_domain:PF07992;Superfamily_domains:SSF51905																	MODERATE		SNV	2			1											PASS	CCCCTATGAGG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	G	3	3	57	83965637	83965637	A	G	1	0	0	0	0	1	0	0	0	11356	449	16	4		4	OSGIN1	16	83965637	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08	78893787	83965637	6372708	8	845											
SLC13A5	284111	BI	GRCh38	chr17	6690777	6690777	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccccactgtcaggttacttAccatggaggcaaagatgggc	11	11	1	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.1437+2T>A		p.X479_splice	ENST00000433363		103	63	40	98			SLC13A5,splice_donor_variant,p.X479_splice,ENST00000433363,NM_177550.4,c.1437+2T>A,HIGH,YES,,,-1;SLC13A5,splice_donor_variant,p.X462_splice,ENST00000293800,NM_001284509.1,c.1386+2T>A,HIGH,,,,-1;SLC13A5,splice_donor_variant,p.X436_splice,ENST00000381074,NM_001284510.1,c.1308+2T>A,HIGH,,,,-1;SLC13A5,splice_donor_variant,p.X479_splice,ENST00000573648,NM_001143838.2,c.1437+2T>A,HIGH,,,,-1;SLC13A5,splice_donor_variant,p.X182_splice,ENST00000572727,,c.546+2T>A,HIGH,,,,-1;SLC13A5,splice_donor_variant,p.X36_splice,ENST00000570687,,c.106+2T>A,HIGH,,,,-1;SLC13A5,upstream_gene_variant,,ENST00000574580,,,MODIFIER,,,,-1;SLC13A5,downstream_gene_variant,,ENST00000574824,,,MODIFIER,,,,-1	T	ENST00000433363	Transcript	splice_donor_variant	splice_donor_variant	-/3435	1437/1707	479/568				1		-1	SLC13A5	HGNC	HGNC:23089	protein_coding	YES	CCDS11079.1	ENSP00000406220	Q86YT5		UPI000000D834	NM_177550.4				10/11																		HIGH	1	SNV	1			1											PASS	TACTTACCATG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900	NonExonic		True	Unknown	T	5	4	57	6690777	6690777	A	T	1	0	0	0	0	0	0	1	0	14660	405	14	5		5	SLC13A5	17	6690777	Splice_Site	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		6690777	76566664	9	846											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	83	47	36	68			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900		COSM52969	True	Unknown	T	3	4	57	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-AA8P-01A-11D-A39W-08		3118944	55498672	10	847											
ZNF446	55663	BI	GRCh38	chr19	58479642	58479642	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgggccacatccgcaGgaggagtgggggctgctgga	19	8	0	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.628-1G>C		p.X210_splice	ENST00000594369		13	6	7	10			ZNF446,splice_acceptor_variant,p.X210_splice,ENST00000596341,,c.628-1G>C,HIGH,,,,1;ZNF446,splice_acceptor_variant,p.X210_splice,ENST00000594369,NM_017908.2,c.628-1G>C,HIGH,YES,,,1;ZNF446,splice_acceptor_variant,p.X210_splice,ENST00000610298,,c.628-1G>C,HIGH,,,,1;ZNF446,intron_variant,,ENST00000335841,,c.628-288G>C,MODIFIER,,,,1;ZNF446,intron_variant,,ENST00000622313,,c.628-287G>C,MODIFIER,,,,1;ZNF324,downstream_gene_variant,,ENST00000536459,,,MODIFIER,YES,,,1;ZNF446,downstream_gene_variant,,ENST00000600013,,,MODIFIER,,,,1;RNU6-1337P,downstream_gene_variant,,ENST00000516525,,,MODIFIER,YES,,,-1;CTD-2619J13.23,upstream_gene_variant,,ENST00000598051,,,MODIFIER,YES,,,-1;ZNF446,splice_acceptor_variant,,ENST00000391694,,n.723-1G>C,HIGH,,,,1;SLC27A5,3_prime_UTR_variant,,ENST00000595851,,c.*1424C>G,MODIFIER,,,,-1;ZNF446,downstream_gene_variant,,ENST00000594468,,,MODIFIER,,,,1	C	ENST00000594369	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/2238	628/1353	210/450				1		1	ZNF446	HGNC	HGNC:21036	protein_coding	YES	CCDS12982.1	ENSP00000472802	Q9NWS9		UPI0000071779	NM_017908.2				4/6																		HIGH	1	SNV	1			1											PASS	CCGCAGGAGGA	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	C	5	2	57	58479642	58479642	G	C	1	0	0	0	0	0	0	1	0	18490	1014	35	5		5	ZNF446	19	58479642	Splice_Site	SNP	G	TCGA-VD-AA8P-01A-11D-A39W-08	55360698	58479642	137974	11	848											
CDH4	1002	BI	GRCh38	chr20	61894996	61895009	+	Frame_Shift_Del	DEL	CATCACGGTGACAG	CATCACGGTGACAG	-													tcaaacacagccacagccatCatcacggtgacagatgtgaa					novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.1137_1150delCATCACGGTGACAG	p.Ile380CysfsTer3	p.I380Cfs*3	ENST00000614565	8/16	123	81	42	144			CDH4,frameshift_variant,p.I380Cfs*3,ENST00000614565,NM_001794.3,c.1137_1150delCATCACGGTGACAG,HIGH,YES,,,1;CDH4,frameshift_variant,p.I286Cfs*3,ENST00000611855,,c.855_868delCATCACGGTGACAG,HIGH,,,,1;CDH4,frameshift_variant,p.I306Cfs*3,ENST00000543233,NM_001252339.1&NM_001252338.1,c.915_928delCATCACGGTGACAG,HIGH,,,,1	-	ENST00000614565	Transcript	frameshift_variant	frameshift_variant	1225-1238/6513	1137-1150/2751	379-384/916	IITVTD/IX	atCATCACGGTGACAGat/atat		1		1	CDH4	HGNC	HGNC:1763	protein_coding	YES	CCDS13488.1	ENSP00000484928	P55283		UPI000015FE86	NM_001794.3			8/16		Pfam_domain:PF00028;Prints_domain:PR00205;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	HIGH	1	deletion	1			1											PASS	AGCCATCATCACGGTGACAGATGTG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	-	7	5	57	61894996	61894996	CATCACGGTGACAG	-	1	0	1	0	1	0	0	0	0	2815	816	29	0		0	CDH4	20	61894996	Frame_Shift_Del	DEL	CATCACGGTGACAG	TCGA-VD-AA8P-01A-11D-A39W-08		61894996	2549171	12	849											
TMEM35A	59353	BI	GRCh38	chrX	101094768	101094768	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtgctcttcttccacCagctggtcggtgatcctctc	10	14	3	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.316C>T	p.Gln106Ter	p.Q106*	ENST00000372930	2/2	109	57	52	83			TMEM35,stop_gained,p.Q106*,ENST00000372930,NM_021637.2,c.316C>T,HIGH,YES,,,1;CENPI,upstream_gene_variant,,ENST00000403304,,,MODIFIER,,,,1;CENPI,upstream_gene_variant,,ENST00000435570,,,MODIFIER,,,,1;TRMT2B-AS1,upstream_gene_variant,,ENST00000443801,,,MODIFIER,YES,,,-1;TMEM35,non_coding_transcript_exon_variant,,ENST00000478351,,n.572C>T,MODIFIER,,,,1	T	ENST00000372930	Transcript	stop_gained	stop_gained	599/2195	316/504	106/167	Q/*	Cag/Tag		1		1	TMEM35	HGNC	HGNC:25864	protein_coding	YES	CCDS14478.1	ENSP00000362021	Q53FP2		UPI0000035FFB	NM_021637.2			2/2		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	HIGH	1	SNV	1			1											PASS	TCCACCAGCTG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	T	4	4	57	101094768	101094768	C	T	1	0	0	0	0	0	1	0	0	16633	595	21	3		3	TMEM35A	23	101094768	Nonsense_Mutation	SNP	C	TCGA-VD-AA8P-01A-11D-A39W-08		101094768	54946127	13	850											
RAB33A	9363	BI	GRCh38	chrX	130184367	130184367	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacgtacatgccgtggTcttcgtctatgacgtcacca	9	14	3	1	novel		TCGA-VD-AA8P-01A-11D-A39W-08	TCGA-VD-AA8P-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5e4ed9fe-6d1c-495a-8ae6-ade952d0fec2	9c561355-ff26-452d-9ed3-870d5a6fdb1e	c.341T>C	p.Val114Ala	p.V114A	ENST00000257017	2/2	59	35	24	47			RAB33A,missense_variant,p.V114A,ENST00000257017,NM_004794.2,c.341T>C,MODERATE,YES,deleterious(0),possibly_damaging(0.714),1	C	ENST00000257017	Transcript	missense_variant	missense_variant	755/1258	341/714	114/237	V/A	gTc/gCc		1		1	RAB33A	HGNC	HGNC:9773	protein_coding	YES	CCDS14621.1	ENSP00000257017	Q14088		UPI000000126B	NM_004794.2	deleterious(0)	possibly_damaging(0.714)	2/2		Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;Pfam_domain:PF04670;Pfam_domain:PF00009;Pfam_domain:PF09439;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;SMART_domains:SM00176;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	CGTGGTCTTCG	0745c0c0-26db-4bd2-84f7-042a8b292bd3	d4adaa2a-8bb4-4563-8d79-417d26b51e91	22b2a7e3-20fb-44df-87f5-fd04eb00d705	b224e42d-8b6d-4578-963c-bf528b954900			True	Unknown	C	3	2	57	130184367	130184367	T	C	1	0	0	0	0	1	0	0	0	13081	1667	58	4		4	RAB33A	23	130184367	Missense_Mutation	SNP	T	TCGA-VD-AA8P-01A-11D-A39W-08	29089599	130184367	25856528	14	851											
ACTRT2	140625	BI	GRCh38	chr1	3022628	3022628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgggctggatgaccgGcttctcaaggagctggagca	14	11	1	1	rs771094841	byCluster	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.942G>A	p.=	p.R314R	ENST00000378404	1/1	55	29	26	79			ACTRT2,synonymous_variant,p.R314R,ENST00000378404,NM_080431.4,c.942G>A,LOW,YES,,,1	A	ENST00000378404	Transcript	synonymous_variant	synonymous_variant	1146/1421	942/1134	314/377	R	cgG/cgA	rs771094841	1		1	ACTRT2	HGNC	HGNC:24026	protein_coding	YES	CCDS45.1	ENSP00000367658	Q8TDY3		UPI0000070494	NM_080431.4			1/1		Pfam_domain:PF00022;SMART_domains:SM00268;Superfamily_domains:SSF53067																	LOW	1	SNV				1											PASS	GACCGGCTTCT	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	A	2	1	58	3022628	3022628	G	A	1	0	0	0	0	0	0	0	1	262	1190	42	3		3	ACTRT2	1	3022628	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		3022628	245933794	1	852											
GAP43	2596	BI	GRCh38	chr3	115676218	115676218	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttgccgatggggtggAgaagaagggagaaggcacca	17	8	0	3	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.236A>C	p.Glu79Ala	p.E79A	ENST00000305124	2/3	47	26	21	47			GAP43,missense_variant,p.E115A,ENST00000393780,NM_001130064.1,c.344A>C,MODERATE,YES,tolerated(0.08),benign(0.297),1;GAP43,missense_variant,p.E79A,ENST00000305124,NM_002045.3,c.236A>C,MODERATE,,tolerated(0.1),benign(0.01),1	C	ENST00000305124	Transcript	missense_variant	missense_variant	602/1691	236/717	79/238	E/A	gAg/gCg		1		1	GAP43	HGNC	HGNC:4140	protein_coding		CCDS33830.1	ENSP00000305010	P17677	Q5U058	UPI000012FF84	NM_002045.3	tolerated(0.1)	benign(0.01)	2/3		Low_complexity_(Seg):Seg;Pfam_domain:PF06614																	MODERATE		SNV	1			1											PASS	GGTGGAGAAGA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	115676218	115676218	A	C	1	0	0	0	0	1	0	0	0	6103	304	11	5		5	GAP43	3	115676218	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		115676218	82619341	2	853											
RASA2	5922	BI	GRCh38	chr3	141512270	141512270	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcgtacccaagttgtggaaAaatctttaaggttggtagaa	10	5	1	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.241A>C	p.Lys81Gln	p.K81Q	ENST00000286364	2/24	41	21	20	70			RASA2,missense_variant,p.K81Q,ENST00000286364,NM_006506.2&NM_001303246.1&NM_001303245.1,c.241A>C,MODERATE,YES,deleterious(0.03),probably_damaging(0.977),1;RASA2,missense_variant,p.K81Q,ENST00000452898,,c.241A>C,MODERATE,,deleterious(0.03),probably_damaging(0.984),1;RASA2,3_prime_UTR_variant,,ENST00000515549,,c.*63A>C,MODIFIER,,,,1	C	ENST00000286364	Transcript	missense_variant	missense_variant	276/5614	241/2550	81/849	K/Q	Aaa/Caa		1		1	RASA2	HGNC	HGNC:9872	protein_coding	YES	CCDS3117.1	ENSP00000286364	Q15283		UPI00001351F5	NM_006506.2;NM_001303246.1;NM_001303245.1	deleterious(0.03)	probably_damaging(0.977)	2/24		Pfam_domain:PF00168;PROSITE_profiles:PS50004;SMART_domains:SM00239;Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1											PASS	TGGAAAAATCT	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	141512270	141512270	A	C	1	0	0	0	0	1	0	0	0	13220	15	1	5		5	RASA2	3	141512270	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08	25836052	141512270	56783289	3	854											
REEP2	51308	BI	GRCh38	chr5	138445566	138445566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaagctcccaagaggGccaaacccatcaaaaaagcg	9	12	1	2	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.658G>A	p.Ala220Thr	p.A220T	ENST00000254901	7/8	33	30	3	60			REEP2,missense_variant,p.A222T,ENST00000378339,NM_001271803.1,c.664G>A,MODERATE,YES,tolerated(0.67),benign(0),1;REEP2,missense_variant,p.A220T,ENST00000254901,NM_016606.3,c.658G>A,MODERATE,,tolerated(0.69),benign(0),1;REEP2,missense_variant,p.A182T,ENST00000506158,,c.544G>A,MODERATE,,tolerated(1),benign(0),1;REEP2,3_prime_UTR_variant,,ENST00000613650,,c.*92G>A,MODIFIER,,,,1;REEP2,downstream_gene_variant,,ENST00000512126,,,MODIFIER,,,,1;REEP2,downstream_gene_variant,,ENST00000464751,,,MODIFIER,,,,1;REEP2,non_coding_transcript_exon_variant,,ENST00000507635,,n.569G>A,MODIFIER,,,,1;REEP2,non_coding_transcript_exon_variant,,ENST00000504163,,n.477G>A,MODIFIER,,,,1;REEP2,downstream_gene_variant,,ENST00000510467,,,MODIFIER,,,,1;REEP2,downstream_gene_variant,,ENST00000503379,,,MODIFIER,,,,1;REEP2,downstream_gene_variant,,ENST00000507511,,,MODIFIER,,,,1	A	ENST00000254901	Transcript	missense_variant	missense_variant	780/2099	658/759	220/252	A/T	Gcc/Acc		1		1	REEP2	HGNC	HGNC:17975	protein_coding		CCDS4205.1	ENSP00000254901	Q9BRK0		UPI00001BD945	NM_016606.3	tolerated(0.69)	benign(0)	7/8		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1											PASS	AGAGGGCCAAA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			False	Unknown	A	3	1	58	138445566	138445566	G	A	1	0	0	0	0	1	0	0	0	13375	1203	42	3		3	REEP2	5	138445566	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		138445566	43092693	4	855											
EXOC2	55770	BI	GRCh38	chr6	610103	610103	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taggacaaaacttactgttcAgaacattctccagtttctgc	6	10	3	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.737T>C	p.Leu246Pro	p.L246P	ENST00000230449	7/28	47	27	20	65			EXOC2,missense_variant,p.L246P,ENST00000230449,NM_018303.5,c.737T>C,MODERATE,YES,deleterious(0),probably_damaging(0.979),-1	G	ENST00000230449	Transcript	missense_variant	missense_variant	873/4449	737/2775	246/924	L/P	cTg/cCg		1		-1	EXOC2	HGNC	HGNC:24968	protein_coding	YES	CCDS34327.1	ENSP00000230449	Q96KP1	A0A024QZT2	UPI000003E7E3	NM_018303.5	deleterious(0)	probably_damaging(0.979)	7/28																			MODERATE	1	SNV	1			1											PASS	TGTTCAGAACA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	G	3	3	58	610103	610103	A	G	1	0	0	0	0	1	0	0	0	5169	202	7	4		4	EXOC2	6	610103	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		610103	170195876	5	856											
FASTK	10922	BI	GRCh38	chr7	151078941	151078941	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acctcggagaaggggctgcaAagggggaggtggcttcggag	20	7	0	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.586T>G	p.Leu196Val	p.L196V	ENST00000297532	3/10	12	6	6	28			FASTK,missense_variant,p.L196V,ENST00000297532,NM_006712.4,c.586T>G,MODERATE,YES,tolerated(0.28),benign(0.12),-1;FASTK,missense_variant,p.L196V,ENST00000482571,NM_001258461.1,c.586T>G,MODERATE,,tolerated(0.41),benign(0.011),-1;FASTK,missense_variant,p.L196V,ENST00000540185,,c.586T>G,MODERATE,,tolerated(0.16),possibly_damaging(0.567),-1;FASTK,missense_variant,p.L55V,ENST00000353841,NM_033015.3,c.163T>G,MODERATE,,tolerated(0.45),benign(0.064),-1;SLC4A2,downstream_gene_variant,,ENST00000485713,NM_001199692.1,,MODIFIER,YES,,,1;SLC4A2,downstream_gene_variant,,ENST00000461735,NM_001199694.1,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000413384,NM_003040.3,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000310317,,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000392826,NM_001199693.1,,MODIFIER,,,,1;TMUB1,downstream_gene_variant,,ENST00000392818,NM_031434.3,,MODIFIER,YES,,,-1;TMUB1,downstream_gene_variant,,ENST00000462940,,,MODIFIER,,,,-1;TMUB1,downstream_gene_variant,,ENST00000297533,NM_001136044.1,,MODIFIER,,,,-1;TMUB1,downstream_gene_variant,,ENST00000482202,,,MODIFIER,,,,-1;TMUB1,downstream_gene_variant,,ENST00000476627,,,MODIFIER,,,,-1;TMUB1,downstream_gene_variant,,ENST00000488752,,,MODIFIER,,,,-1;TMUB1,downstream_gene_variant,,ENST00000492838,,,MODIFIER,,,,-1;RP11-148K1.12,upstream_gene_variant,,ENST00000485974,,,MODIFIER,YES,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000489884,,n.667T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000461979,,n.243T>G,MODIFIER,,,,-1;FASTK,intron_variant,,ENST00000478477,,n.432+559T>G,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000496663,,,MODIFIER,,,,-1;SLC4A2,downstream_gene_variant,,ENST00000482697,,,MODIFIER,,,,1;FASTK,non_coding_transcript_exon_variant,,ENST00000467237,,n.1556T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000469237,,n.388T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000466855,,n.439T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000482806,,n.610T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000460980,,n.263T>G,MODIFIER,,,,-1;FASTK,non_coding_transcript_exon_variant,,ENST00000478883,,n.109T>G,MODIFIER,,,,-1;FASTK,upstream_gene_variant,,ENST00000483953,,,MODIFIER,,,,-1;SLC4A2,downstream_gene_variant,,ENST00000472204,,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000460010,,,MODIFIER,,,,1;FASTK,upstream_gene_variant,,ENST00000465272,,,MODIFIER,,,,-1;FASTK,upstream_gene_variant,,ENST00000459800,,,MODIFIER,,,,-1;SLC4A2,downstream_gene_variant,,ENST00000469467,,,MODIFIER,,,,1	C	ENST00000297532	Transcript	missense_variant	missense_variant	664/1827	586/1650	196/549	L/V	Ttg/Gtg		1		-1	FASTK	HGNC	HGNC:24676	protein_coding	YES	CCDS5918.1	ENSP00000297532	Q14296	A0A090N8Z7	UPI0000000CBA	NM_006712.4	tolerated(0.28)	benign(0.12)	3/10		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CTGCAAAGGGG	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	151078941	151078941	A	C	1	0	0	0	0	1	0	0	0	5544	11	1	5		5	FASTK	7	151078941	Missense_Mutation	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		151078941	8267032	6	857											
LMBR1	64327	BI	GRCh38	chr7	156826682	156826682	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ggatttcattgctgatgattGagaagggtaaaagcaaaaca	11	4	1	3	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.242C>G	p.Ser81Ter	p.S81*	ENST00000353442	4/17	26	16	10	32			LMBR1,stop_gained,p.S81*,ENST00000353442,NM_022458.3,c.242C>G,HIGH,YES,,,-1;LMBR1,stop_gained,p.S79*,ENST00000415428,,c.236C>G,HIGH,,,,-1;LMBR1,5_prime_UTR_variant,,ENST00000359422,,c.-215C>G,MODIFIER,,,,-1;LMBR1,non_coding_transcript_exon_variant,,ENST00000433968,,n.530C>G,MODIFIER,,,,-1;LMBR1,non_coding_transcript_exon_variant,,ENST00000461469,,n.286C>G,MODIFIER,,,,-1;LMBR1,non_coding_transcript_exon_variant,,ENST00000498034,,n.395C>G,MODIFIER,,,,-1;LMBR1,intron_variant,,ENST00000430278,,n.329+10131C>G,MODIFIER,,,,-1;LMBR1,synonymous_variant,p.L43L,ENST00000434278,,c.129C>G,LOW,,,,-1;LMBR1,3_prime_UTR_variant,,ENST00000454132,,c.*201C>G,MODIFIER,,,,-1;LMBR1,3_prime_UTR_variant,,ENST00000434453,,c.*99C>G,MODIFIER,,,,-1;LMBR1,3_prime_UTR_variant,,ENST00000444719,,c.*64C>G,MODIFIER,,,,-1;LMBR1,3_prime_UTR_variant,,ENST00000414218,,c.*52C>G,MODIFIER,,,,-1;LMBR1,intron_variant,,ENST00000434503,,c.139+10131C>G,MODIFIER,,,,-1	C	ENST00000353442	Transcript	stop_gained	stop_gained	479/7997	242/1473	81/490	S/*	tCa/tGa		1		-1	LMBR1	HGNC	HGNC:13243	protein_coding	YES	CCDS5945.1	ENSP00000326604	Q8WVP7		UPI000005340E	NM_022458.3			4/17		Pfam_domain:PF04791;Transmembrane_helices:Tmhmm;Prints_domain:PR01692																	HIGH	1	SNV	1			1											PASS	TGATTGAGAAG	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			False	Unknown	C	4	2	58	156826682	156826682	G	C	1	0	0	0	0	0	1	0	0	8764	1294	45	5		5	LMBR1	7	156826682	Nonsense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	5747741	156826682	2519291	7	858											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	87	61	26	84			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6		COSM28758	True	Unknown	G	3	3	58	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08		77794572	60600145	8	859											
TTF1	7270	BI	GRCh38	chr9	132376139	132376139	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cttttccttcagcaaaggtaGagtcgtctcataaaggtagt	9	8	2	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.2494C>G	p.Leu832Val	p.L832V	ENST00000334270	11/11	47	29	18	65			TTF1,missense_variant,p.L832V,ENST00000334270,NM_007344.3,c.2494C>G,MODERATE,YES,deleterious(0.03),probably_damaging(0.957),-1;TTF1,missense_variant,p.L317V,ENST00000612514,NM_001205296.1,c.949C>G,MODERATE,,tolerated(0.14),probably_damaging(0.957),-1;TTF1,non_coding_transcript_exon_variant,,ENST00000461970,,n.177C>G,MODIFIER,,,,-1	C	ENST00000334270	Transcript	missense_variant	missense_variant	2534/3052	2494/2718	832/905	L/V	Cta/Gta		1		-1	TTF1	HGNC	HGNC:12397	protein_coding	YES	CCDS6948.1	ENSP00000333920	Q15361	A0A024R8C1		NM_007344.3	deleterious(0.03)	probably_damaging(0.957)	11/11		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	AGGTAGAGTCG	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	132376139	132376139	G	C	1	0	0	0	0	1	0	0	0	17228	933	33	5		5	TTF1	9	132376139	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	54581567	132376139	6018578	9	860											
DEAF1	10522	BI	GRCh38	chr11	679783	679783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtcaaaggtcagtgcccccGaggtcgtgatctgtcccgag	14	12	3	1			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.1031C>T	p.Ser344Leu	p.S344L	ENST00000382409	8/12	23	16	7	39			DEAF1,missense_variant,p.S344L,ENST00000382409,NM_021008.2,c.1031C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.719),-1;RP11-754B17.1,downstream_gene_variant,,ENST00000527799,,,MODIFIER,YES,,,1;DEAF1,non_coding_transcript_exon_variant,,ENST00000525904,,n.214C>T,MODIFIER,,,,-1;DEAF1,non_coding_transcript_exon_variant,,ENST00000530813,,n.235C>T,MODIFIER,,,,-1;DEAF1,missense_variant,p.S132L,ENST00000527170,,c.393C>T,MODERATE,,deleterious(0),possibly_damaging(0.806),-1;DEAF1,upstream_gene_variant,,ENST00000526790,,,MODIFIER,,,,-1	A	ENST00000382409	Transcript	missense_variant	missense_variant	1516/2500	1031/1698	344/565	S/L	tCg/tTg		1		-1	DEAF1	HGNC	HGNC:14677	protein_coding	YES	CCDS31327.1	ENSP00000371846	O75398		UPI00001290E6	NM_021008.2	deleterious(0)	possibly_damaging(0.719)	8/12																			MODERATE	1	SNV	1			1											PASS	CCCCCGAGGTC	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6		COSM3452415	True	Unknown	A	3	1	58	679783	679783	G	A	1	0	0	0	0	1	0	0	0	4183	1059	37	2		2	DEAF1	11	679783	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		679783	134406839	10	861											
RARG	5916	BI	GRCh38	chr12	53213161	53213161	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tagggctggctgggccgccgGcgccgggcgtacagcctcag	18	14	1	0	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.1101C>G	p.=	p.R367R	ENST00000425354	9/10	54	28	26	69			RARG,synonymous_variant,p.R367R,ENST00000425354,NM_000966.5,c.1101C>G,LOW,YES,,,-1;RARG,synonymous_variant,p.R295R,ENST00000394426,NM_001243730.1&NM_001243731.1,c.885C>G,LOW,,,,-1;RARG,synonymous_variant,p.R356R,ENST00000338561,NM_001042728.2,c.1068C>G,LOW,,,,-1;RARG,synonymous_variant,p.R345R,ENST00000543726,NM_001243732.1,c.1035C>G,LOW,,,,-1;RARG,non_coding_transcript_exon_variant,,ENST00000543762,,n.1094C>G,MODIFIER,,,,-1;RARG,downstream_gene_variant,,ENST00000550265,,,MODIFIER,,,,-1;RARG,downstream_gene_variant,,ENST00000548284,,,MODIFIER,,,,-1;RARG,downstream_gene_variant,,ENST00000551580,,,MODIFIER,,,,-1;RARG,downstream_gene_variant,,ENST00000548317,,,MODIFIER,,,,-1	C	ENST00000425354	Transcript	synonymous_variant	synonymous_variant	1589/2959	1101/1365	367/454	R	cgC/cgG		1		-1	RARG	HGNC	HGNC:9866	protein_coding	YES	CCDS8850.1	ENSP00000388510	P13631	A8K3H3	UPI000000105D	NM_000966.5			9/10		Low_complexity_(Seg):Seg;Pfam_domain:PF00104;Prints_domain:PR00545;SMART_domains:SM00430;Superfamily_domains:SSF48508																	LOW	1	SNV	1			1											PASS	CGCCGGCGCCG	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	2	2	58	53213161	53213161	G	C	1	0	0	0	0	0	0	0	1	13213	1190	42	5		5	RARG	12	53213161	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		53213161	80062148	11	862											
CDH24	64403	BI	GRCh38	chr14	23053531	23053531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggagtccaggtcagccgcGgagatctggcctaccagggt	17	11	2	1	rs780138714		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.1191C>T	p.=	p.S397S	ENST00000267383	6/12	23	9	14	31			CDH24,synonymous_variant,p.S397S,ENST00000397359,NM_022478.3,c.1191C>T,LOW,YES,,,-1;CDH24,synonymous_variant,p.S397S,ENST00000487137,NM_144985.3,c.1191C>T,LOW,,,,-1;CDH24,synonymous_variant,p.S397S,ENST00000267383,,c.1191C>T,LOW,,,,-1;CDH24,synonymous_variant,p.S397S,ENST00000554034,,c.1191C>T,LOW,,,,-1;CDH24,intron_variant,,ENST00000610348,,c.417+1607C>T,MODIFIER,,,,-1;CDH24,upstream_gene_variant,,ENST00000485922,,,MODIFIER,,,,-1	A	ENST00000267383	Transcript	synonymous_variant	synonymous_variant	1284/2873	1191/2460	397/819	S	tcC/tcT	rs780138714	1		-1	CDH24	HGNC	HGNC:14265	protein_coding		CCDS9585.1	ENSP00000267383	Q86UP0		UPI0000190F86				6/12		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	LOW		SNV	1			1	8.238e-06	8.904e-06	0	8.766e-05	0	0	0	0	0		PASS	GCCGCGGAGAT	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	A	2	1	58	23053531	23053531	G	A	1	0	0	0	0	0	0	0	1	2812	1103	39	2		2	CDH24	14	23053531	Silent	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		23053531	83990187	12	863											
SRRM2	23524	BI	GRCh38	chr16	2768117	2768117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagccagcaaaggagcGgcggagttcctcctcgtcgt	13	14	0	0			TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.7589G>A	p.Arg2530Gln	p.R2530Q	ENST00000301740	11/15	30	16	14	41			SRRM2,missense_variant,p.R2530Q,ENST00000301740,NM_016333.3,c.7589G>A,MODERATE,YES,,probably_damaging(0.992),1;SRRM2,intron_variant,,ENST00000630499,,c.883-3187G>A,MODIFIER,,,,1;SRRM2,downstream_gene_variant,,ENST00000576924,,,MODIFIER,,,,1;SRRM2,downstream_gene_variant,,ENST00000571378,,,MODIFIER,,,,1;TCEB2,downstream_gene_variant,,ENST00000409477,,,MODIFIER,,,,-1;TCEB2,downstream_gene_variant,,ENST00000409906,NM_007108.3,,MODIFIER,,,,-1;TCEB2,downstream_gene_variant,,ENST00000262306,NM_207013.2,,MODIFIER,YES,,,-1;TCEB2,downstream_gene_variant,,ENST00000494946,,,MODIFIER,,,,-1;SRRM2,upstream_gene_variant,,ENST00000570539,,,MODIFIER,,,,1;TCEB2,downstream_gene_variant,,ENST00000572954,,,MODIFIER,,,,-1;AC092117.2,upstream_gene_variant,,ENST00000581119,,,MODIFIER,YES,,,1;SRRM2,non_coding_transcript_exon_variant,,ENST00000574593,,n.611G>A,MODIFIER,,,,1;SRRM2,non_coding_transcript_exon_variant,,ENST00000572721,,n.262G>A,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000574866,,,MODIFIER,,,,1;SRRM2,downstream_gene_variant,,ENST00000576674,,,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000573583,,,MODIFIER,,,,1;SRRM2,missense_variant,p.R133Q,ENST00000572883,,c.396G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.586),1;SRRM2,non_coding_transcript_exon_variant,,ENST00000573311,,n.37G>A,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000574331,,,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000576878,,,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000570705,,,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000571041,,,MODIFIER,,,,1;SRRM2,upstream_gene_variant,,ENST00000573692,,,MODIFIER,,,,1	A	ENST00000301740	Transcript	missense_variant	missense_variant	8138/9353	7589/8259	2530/2752	R/Q	cGg/cAg		1		1	SRRM2	HGNC	HGNC:16639	protein_coding	YES	CCDS32373.1	ENSP00000301740	Q9UQ35			NM_016333.3		probably_damaging(0.992)	11/15		PROSITE_profiles:PS50324																	MODERATE	1	SNV	1			1											PASS	GGAGCGGCGGA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6		COSM84326	True	Unknown	A	3	1	58	2768117	2768117	G	A	1	0	0	0	0	1	0	0	0	15530	1116	39	2		2	SRRM2	16	2768117	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		2768117	87570228	13	864											
PRSS53	339105	BI	GRCh38	chr16	31086834	31086834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttcggccccagggcTgagtccctcacgctgcagag	11	17	2	2	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.307A>G	p.Ser103Gly	p.S103G	ENST00000280606	4/11	36	33	3	65			PRSS53,missense_variant,p.S103G,ENST00000280606,NM_001039503.2,c.307A>G,MODERATE,YES,tolerated(0.09),benign(0.036),-1;RP11-196G11.1,missense_variant,p.S80G,ENST00000532364,,c.238A>G,MODERATE,,tolerated_low_confidence(0.2),benign(0.001),-1;ZNF646,downstream_gene_variant,,ENST00000394979,,,MODIFIER,,,,1;ZNF646,downstream_gene_variant,,ENST00000300850,NM_014699.3,,MODIFIER,YES,,,1;VKORC1,downstream_gene_variant,,ENST00000319788,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000394975,NM_024006.4,,MODIFIER,YES,,,-1;VKORC1,downstream_gene_variant,,ENST00000354895,NM_206824.1,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000300851,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000498155,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000420057,,,MODIFIER,,,,-1;RP11-196G11.1,downstream_gene_variant,,ENST00000529564,,,MODIFIER,YES,,,-1;VKORC1,downstream_gene_variant,,ENST00000394971,,,MODIFIER,,,,-1;VKORC1,downstream_gene_variant,,ENST00000472468,,,MODIFIER,,,,-1;RP11-196G11.1,3_prime_UTR_variant,,ENST00000533518,,c.*291A>G,MODIFIER,,,,-1;PRSS53,non_coding_transcript_exon_variant,,ENST00000486499,,n.2795A>G,MODIFIER,,,,-1;PRSS53,non_coding_transcript_exon_variant,,ENST00000492427,,n.1257A>G,MODIFIER,,,,-1	C	ENST00000280606	Transcript	missense_variant	missense_variant	461/2181	307/1662	103/553	S/G	Agc/Ggc		1		-1	PRSS53	HGNC	HGNC:34407	protein_coding	YES	CCDS42153.1	ENSP00000280606	Q2L4Q9		UPI000059D375	NM_001039503.2	tolerated(0.09)	benign(0.036)	4/11		Pfam_domain:PF00089;Pfam_domain:PF09342;PROSITE_profiles:PS50240;SMART_domains:SM00020;Superfamily_domains:SSF50494																	MODERATE	1	SNV	1			1											PASS	AGGGCTGAGTC	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			False	Unknown	C	3	2	58	31086834	31086834	T	C	1	0	0	0	0	1	0	0	0	12781	1580	55	4		4	PRSS53	16	31086834	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	28318717	31086834	59251511	14	865											
KRTAP9-3	83900	BI	GRCh38	chr17	41232891	41232891	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactgctgccagccctgctgCcgcccagcctgctgtgagac	11	17	0	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.390C>G	p.Cys130Trp	p.C130W	ENST00000411528	1/1	47	15	32	136			KRTAP9-3,missense_variant,p.C130W,ENST00000411528,NM_031962.2,c.390C>G,MODERATE,YES,deleterious(0),probably_damaging(0.98),1;KRTAP9-9,intron_variant,,ENST00000618683,,c.59+6178C>G,MODIFIER,,,,1;KRTAP9-8,intron_variant,,ENST00000622336,,c.56+334C>G,MODIFIER,,,,1	G	ENST00000411528	Transcript	missense_variant	missense_variant	429/992	390/480	130/159	C/W	tgC/tgG		1		1	KRTAP9-3	HGNC	HGNC:16927	protein_coding	YES	CCDS11385.1	ENSP00000392189	Q9BYQ3		UPI0000071C07	NM_031962.2	deleterious(0)	probably_damaging(0.98)	1/1		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50311																	MODERATE	1	SNV				1											PASS	TGCTGCCGCCC	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	G	3	3	58	41232891	41232891	C	G	1	0	0	0	0	1	0	0	0	8471	747	26	5		5	KRTAP9-3	17	41232891	Missense_Mutation	SNP	C	TCGA-VD-AA8Q-01A-11D-A39W-08		41232891	42024550	15	866											
HOXB8	3218	BI	GRCh38	chr17	48614542	48614542	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcccgtggtagaactcctGgatttgcgacgggtgctgga	16	10	0	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.163C>G	p.Gln55Glu	p.Q55E	ENST00000239144	1/2	16	10	6	24			HOXB8,missense_variant,p.Q55E,ENST00000239144,NM_024016.3,c.163C>G,MODERATE,YES,tolerated(0.05),benign(0.276),-1;HOXB8,missense_variant,p.Q55E,ENST00000576562,,c.163C>G,MODERATE,,tolerated(0.19),benign(0.199),-1;HOXB7,upstream_gene_variant,,ENST00000239165,NM_004502.3,,MODIFIER,YES,,,-1;HOXB8,upstream_gene_variant,,ENST00000498634,,,MODIFIER,,,,-1;HOXB7,intron_variant,,ENST00000567101,,n.60-6447C>G,MODIFIER,,,,-1	C	ENST00000239144	Transcript	missense_variant	missense_variant	398/1823	163/732	55/243	Q/E	Cag/Gag		1		-1	HOXB8	HGNC	HGNC:5119	protein_coding	YES	CCDS11533.1	ENSP00000239144	P17481		UPI000012CF63	NM_024016.3	tolerated(0.05)	benign(0.276)	1/2																			MODERATE		SNV	2			1											PASS	CTCCTGGATTT	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	48614542	48614542	G	C	1	0	0	0	0	1	0	0	0	7201	1357	47	5		5	HOXB8	17	48614542	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08	7381651	48614542	34642899	16	867											
DNAH17	8632	BI	GRCh38	chr17	78425352	78425352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccctccttaccttccaTgaagagtccgtacacgtagg	9	13	0	3	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.13135A>C	p.Met4379Leu	p.M4379L	ENST00000389840	80/81	85	50	35	111			DNAH17,missense_variant,p.M4379L,ENST00000389840,NM_173628.3,c.13135A>C,MODERATE,YES,,benign(0.028),-1;DNAH17,missense_variant,p.M4374L,ENST00000585328,,c.13120A>C,MODERATE,,tolerated(0.23),benign(0.048),-1;PGS1,downstream_gene_variant,,ENST00000262764,NM_024419.3,,MODIFIER,YES,,,1;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,,n.6296A>C,MODIFIER,,,,-1;PGS1,downstream_gene_variant,,ENST00000588281,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000586880,,,MODIFIER,,,,1;DNAH17,downstream_gene_variant,,ENST00000586850,,,MODIFIER,,,,-1;DNAH17,downstream_gene_variant,,ENST00000592192,,,MODIFIER,,,,-1;DNAH17,3_prime_UTR_variant,,ENST00000591369,,c.*66A>C,MODIFIER,,,,-1;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,,n.2809A>C,MODIFIER,,,,-1;PGS1,downstream_gene_variant,,ENST00000591996,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000589426,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000589425,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000588169,,,MODIFIER,,,,1;DNAH17,downstream_gene_variant,,ENST00000591647,,,MODIFIER,,,,-1	G	ENST00000389840	Transcript	missense_variant	missense_variant	13260/13723	13135/13389	4379/4462	M/L	Atg/Ctg		1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3		benign(0.028)	80/81		Pfam_domain:PF03028																	MODERATE		SNV	5			1											PASS	TTCCATGAAGA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	G	3	3	58	78425352	78425352	T	G	1	0	0	0	0	1	0	0	0	4416	1464	51	5		5	DNAH17	17	78425352	Missense_Mutation	SNP	T	TCGA-VD-AA8Q-01A-11D-A39W-08	29810810	78425352	4832089	17	868											
ZNF180	7733	BI	GRCh38	chr19	44476850	44476850	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attcatacggtttctctccaGtgtgagttctttgatgtgca	9	8	3	2	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.1631C>G	p.Thr544Ser	p.T544S	ENST00000221327	5/5	76	43	33	115			ZNF180,missense_variant,p.T544S,ENST00000221327,NM_013256.4&NM_001288759.1&NM_001291633.1,c.1631C>G,MODERATE,YES,tolerated(0.07),possibly_damaging(0.466),-1;ZNF180,missense_variant,p.T519S,ENST00000391956,NM_001278508.1,c.1556C>G,MODERATE,,tolerated(0.07),probably_damaging(0.993),-1;ZNF180,missense_variant,p.T517S,ENST00000592529,NM_001278509.1,c.1550C>G,MODERATE,,tolerated(0.07),benign(0.34),-1;ZNF180,downstream_gene_variant,,ENST00000586637,,,MODIFIER,,,,-1;ZNF180,downstream_gene_variant,,ENST00000591064,,,MODIFIER,,,,-1;ZNF180,downstream_gene_variant,,ENST00000587047,,,MODIFIER,,,,-1;ZNF180,downstream_gene_variant,,ENST00000585514,,,MODIFIER,,,,-1;ZNF180,3_prime_UTR_variant,,ENST00000592095,,c.*1642C>G,MODIFIER,,,,-1;ZNF180,3_prime_UTR_variant,,ENST00000590088,,c.*1438C>G,MODIFIER,,,,-1;ZNF285B,downstream_gene_variant,,ENST00000561698,,,MODIFIER,YES,,,1	C	ENST00000221327	Transcript	missense_variant	missense_variant	1913/4335	1631/2079	544/692	T/S	aCt/aGt		1		-1	ZNF180	HGNC	HGNC:12970	protein_coding	YES	CCDS12639.1	ENSP00000221327	Q9UJW8			NM_013256.4;NM_001288759.1;NM_001291633.1	tolerated(0.07)	possibly_damaging(0.466)	5/5		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	CTCCAGTGTGA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	C	3	2	58	44476850	44476850	G	C	1	0	0	0	0	1	0	0	0	18328	1029	36	5		5	ZNF180	19	44476850	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		44476850	14140766	18	869											
UMODL1	89766	BI	GRCh38	chr21	42123017	42123017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtcgccatccagaagcGcttcctgcagcaggaatcca	11	13	0	1	rs768514919	byFrequency	TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.3014G>A	p.Arg1005His	p.R1005H	ENST00000408910	17/23	35	23	12	64			UMODL1,missense_variant,p.R933H,ENST00000400424,NM_001199528.2,c.2798G>A,MODERATE,,tolerated(0.13),benign(0.052),1;UMODL1,missense_variant,p.R1061H,ENST00000400427,NM_001199527.1,c.3182G>A,MODERATE,,tolerated(0.12),benign(0.072),1;UMODL1,missense_variant,p.R1133H,ENST00000408989,NM_173568.3,c.3398G>A,MODERATE,YES,tolerated(0.12),benign(0.072),1;UMODL1,missense_variant,p.R1005H,ENST00000408910,NM_001004416.2,c.3014G>A,MODERATE,,tolerated(0.13),benign(0.052),1;UMODL1,non_coding_transcript_exon_variant,,ENST00000400423,,n.758G>A,MODIFIER,,,,1;UMODL1,intron_variant,,ENST00000484174,,n.571+1793G>A,MODIFIER,,,,1;UMODL1,upstream_gene_variant,,ENST00000484712,,,MODIFIER,,,,1	A	ENST00000408910	Transcript	missense_variant	missense_variant	3014/4878	3014/3957	1005/1318	R/H	cGc/cAc	rs768514919	1		1	UMODL1	HGNC	HGNC:12560	protein_coding		CCDS42936.1	ENSP00000386147	Q5DID0		UPI00006C2192	NM_001004416.2	tolerated(0.13)	benign(0.052)	17/23		Pfam_domain:PF00100;PROSITE_profiles:PS51034;SMART_domains:SM00241																	MODERATE		SNV	1			1	4.123e-05	4.143e-05	0	8.645e-05	0	0.0001514	1.499e-05	0	0.0001211		PASS	GAAGCGCTTCC	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	A	3	1	58	42123017	42123017	G	A	1	0	0	0	0	1	0	0	0	17504	1087	38	2		2	UMODL1	21	42123017	Missense_Mutation	SNP	G	TCGA-VD-AA8Q-01A-11D-A39W-08		42123017	4586966	19	870											
ZNF182	7569	BI	GRCh38	chrX	47977508	47977508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttctcatactcagtAtggaagaacaattttgcaca	6	7	2	1	novel		TCGA-VD-AA8Q-01A-11D-A39W-08	TCGA-VD-AA8Q-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	991200cc-b343-4fe2-8162-e19a3f557a2a	74a842e8-7339-457c-a2d2-394c3b271e96	c.579T>C	p.=	p.H193H	ENST00000305127	4/4	22	10	12	26			ZNF182,synonymous_variant,p.H193H,ENST00000396965,NM_001178099.1&NM_006962.1,c.579T>C,LOW,YES,,,-1;ZNF182,synonymous_variant,p.H174H,ENST00000376943,NM_001007088.1,c.522T>C,LOW,,,,-1;ZNF182,synonymous_variant,p.H193H,ENST00000305127,,c.579T>C,LOW,,,,-1;ZNF81,intron_variant,,ENST00000376950,,c.278-25020A>G,MODIFIER,,,,1	G	ENST00000305127	Transcript	synonymous_variant	synonymous_variant	579/3235	579/1920	193/639	H	caT/caC		1		-1	ZNF182	HGNC	HGNC:13001	protein_coding		CCDS35236.1	ENSP00000306351	P17025						4/4																			LOW		SNV	2			1											PASS	TCAGTATGGAA	2e2657c3-1a15-4a32-b9dd-29bbabb7d5ae	4cfff5c0-73ee-485e-ba7e-321d0fd1cea2	c27df689-60a0-4faa-9945-9a7fb91469c2	1d00217f-28df-4d91-aeb9-0d9a83a907e6			True	Unknown	G	2	3	58	47977508	47977508	A	G	1	0	0	0	0	0	0	0	1	18330	446	16	4		4	ZNF182	23	47977508	Silent	SNP	A	TCGA-VD-AA8Q-01A-11D-A39W-08		47977508	108063387	20	871											
SZT2	23334	BI	GRCh38	chr1	43447122	43447122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcgacacttcctggcCcaccaccctgacggacccca	7	19	1	1	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.9069C>T	p.=	p.A3023A	ENST00000562955	65/71	27	14	13	15			SZT2,synonymous_variant,p.A3023A,ENST00000562955,NM_015284.3,c.9069C>T,LOW,YES,,,1;HYI,downstream_gene_variant,,ENST00000583037,NM_001243526.1,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000372425,NM_001190880.2,,MODIFIER,YES,,,-1;HYI,downstream_gene_variant,,ENST00000372432,NM_031207.5,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000372434,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000486909,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000372430,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000372433,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000470662,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000487366,,,MODIFIER,,,,-1;MIR6735,upstream_gene_variant,,ENST00000615179,,,MODIFIER,YES,,,1;SZT2-AS1,downstream_gene_variant,,ENST00000396885,,,MODIFIER,YES,,,-1;SZT2,non_coding_transcript_exon_variant,,ENST00000460536,,n.1057C>T,MODIFIER,,,,1;HYI,downstream_gene_variant,,ENST00000372427,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000483618,,,MODIFIER,,,,-1;HYI,downstream_gene_variant,,ENST00000496142,,,MODIFIER,,,,-1	T	ENST00000562955	Transcript	synonymous_variant	synonymous_variant	9069/12281	9069/10128	3023/3375	A	gcC/gcT		1		1	SZT2	HGNC	HGNC:29040	protein_coding	YES	CCDS30694.2	ENSP00000457168	Q5T011		UPI0001E24F46	NM_015284.3			65/71		PROSITE_profiles:PS50316																	LOW		SNV	5			1											PASS	CTGGCCCACCA	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	T	2	4	59	43447122	43447122	C	T	1	0	0	0	0	0	0	0	1	15883	610	22	3		3	SZT2	1	43447122	Silent	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		43447122	205509300	1	872											
LRPPRC	10128	BI	GRCh38	chr2	43918026	43918026	+	Splice_Region	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccccgtatgtgcttgccTtttttttggttcaatcggca	8	11	1	0	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.3147A>G	p.=	p.K1049K	ENST00000260665	29/38	46	23	23	42			LRPPRC,splice_region_variant,p.K1049K,ENST00000260665,NM_133259.3,c.3147A>G,LOW,YES,,,-1	C	ENST00000260665	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	3205/6335	3147/4185	1049/1394	K	aaA/aaG		1		-1	LRPPRC	HGNC	HGNC:15714	protein_coding	YES	CCDS33189.1	ENSP00000260665	P42704	E5KNY5	UPI000019B4D2	NM_133259.3			29/38																			LOW	1	SNV	1			1											PASS	TTGCCTTTTTT	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	C	5	2	59	43918026	43918026	T	C	1	0	0	0	0	0	0	1	0	8860	1623	56	4		4	LRPPRC	2	43918026	Splice_Region	SNP	T	TCGA-VD-AA8R-01A-11D-A39W-08		43918026	198275503	2	873											
GLI2	2736	BI	GRCh38	chr2	120990556	120990556	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccgcctcaccacccccCgaaactccttgaccctgccc	4	25	1	1	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.4642C>T	p.Arg1548Ter	p.R1548*	ENST00000361492	13/13	154	88	66	168			GLI2,stop_gained,p.R1548*,ENST00000452319,,c.4642C>T,HIGH,YES,,,1;GLI2,stop_gained,p.R1548*,ENST00000361492,NM_005270.4,c.4642C>T,HIGH,,,,1;GLI2,downstream_gene_variant,,ENST00000314490,,,MODIFIER,,,,1;GLI2,downstream_gene_variant,,ENST00000435313,,,MODIFIER,,,,1;GLI2,3_prime_UTR_variant,,ENST00000445186,,c.*3741C>T,MODIFIER,,,,1;GLI2,3_prime_UTR_variant,,ENST00000341310,,c.*3690C>T,MODIFIER,,,,1;GLI2,intron_variant,,ENST00000438299,,c.*2544-34C>T,MODIFIER,,,,1;GLI2,intron_variant,,ENST00000452692,,c.*2493-34C>T,MODIFIER,,,,1;GLI2,downstream_gene_variant,,ENST00000437950,,,MODIFIER,,,,1	T	ENST00000361492	Transcript	stop_gained	stop_gained	4672/6768	4642/4761	1548/1586	R/*	Cga/Tga		1		1	GLI2	HGNC	HGNC:4318	protein_coding		CCDS33283.1	ENSP00000354586	P10070		UPI000053FCB4	NM_005270.4			13/13																			HIGH		SNV	1			1											panel_of_normals	CCCCCCGAAAC	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0	gdc_pon		True	Unknown	T	4	4	59	120990556	120990556	C	T	1	0	0	0	0	0	1	0	0	6316	644	23	2		2	GLI2	2	120990556	Nonsense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08	77072530	120990556	121202973	3	874											
THAP4	51078	BI	GRCh38	chr2	241637001	241637001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttggagcagttcacggccGcacagcagatcaccatcgcg	13	13	2	1	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.17C>T	p.Ala6Val	p.A6V	ENST00000407315	1/6	13	8	5	22			THAP4,missense_variant,p.A6V,ENST00000407315,NM_015963.5,c.17C>T,MODERATE,YES,deleterious_low_confidence(0),possibly_damaging(0.48),-1;ATG4B,upstream_gene_variant,,ENST00000405546,NM_178326.2,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000404914,NM_013325.4,,MODIFIER,YES,,,1;ATG4B,upstream_gene_variant,,ENST00000402096,,,MODIFIER,,,,1;THAP4,upstream_gene_variant,,ENST00000612200,,,MODIFIER,,,,-1;ATG4B,upstream_gene_variant,,ENST00000425239,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000400771,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000430617,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000419606,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000625810,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000491867,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000482507,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000494465,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000483778,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000493618,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000475195,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000468018,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000400772,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000465399,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000479554,,,MODIFIER,,,,1;ATG4B,upstream_gene_variant,,ENST00000415107,,,MODIFIER,,,,1	A	ENST00000407315	Transcript	missense_variant	missense_variant	449/2367	17/1734	6/577	A/V	gCg/gTg		1		-1	THAP4	HGNC	HGNC:23187	protein_coding	YES	CCDS2551.1	ENSP00000385006	Q8WY91		UPI000018DBC4	NM_015963.5	deleterious_low_confidence(0)	possibly_damaging(0.48)	1/6		Pfam_domain:PF05485;PROSITE_profiles:PS50950;SMART_domains:SM00980																	MODERATE	1	SNV	1			1											PASS	CGGCCGCACAG	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			False	Unknown	A	3	1	59	241637001	241637001	G	A	1	0	0	0	0	1	0	0	0	16279	1087	38	2		2	THAP4	2	241637001	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	120646445	241637001	556528	4	875											
RAI14	26064	BI	GRCh38	chr5	34823781	34823781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactcaataaacaggtgagcGagctgtcacagctgtacaaa	9	9	2	1	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.1939G>A	p.Glu647Lys	p.E647K	ENST00000265109	15/18	42	23	19	41			RAI14,missense_variant,p.E647K,ENST00000265109,NM_015577.2,c.1939G>A,MODERATE,,deleterious(0),probably_damaging(0.949),1;RAI14,missense_variant,p.E647K,ENST00000428746,NM_001145520.1,c.1939G>A,MODERATE,,deleterious(0),probably_damaging(0.949),1;RAI14,missense_variant,p.E650K,ENST00000515799,NM_001145525.1,c.1948G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;RAI14,missense_variant,p.E647K,ENST00000503673,NM_001145521.1,c.1939G>A,MODERATE,,deleterious(0),probably_damaging(0.949),1;RAI14,missense_variant,p.E639K,ENST00000506376,NM_001145523.1,c.1915G>A,MODERATE,,deleterious(0),probably_damaging(0.977),1;RAI14,missense_variant,p.E618K,ENST00000512629,NM_001145522.1,c.1852G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;RAI14,downstream_gene_variant,,ENST00000508777,,,MODIFIER,,,,1;RAI14,upstream_gene_variant,,ENST00000507883,,,MODIFIER,,,,1;RAI14,upstream_gene_variant,,ENST00000513772,,,MODIFIER,,,,1	A	ENST00000265109	Transcript	missense_variant	missense_variant	2226/5092	1939/2943	647/980	E/K	Gag/Aag		1		1	RAI14	HGNC	HGNC:14873	protein_coding		CCDS34142.1	ENSP00000265109	Q9P0K7		UPI000013F319	NM_015577.2	deleterious(0)	probably_damaging(0.949)	15/18		Coiled-coils_(Ncoils):ncoils																	MODERATE		SNV	1			1											PASS	TGAGCGAGCTG	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	A	3	1	59	34823781	34823781	G	A	1	0	0	0	0	1	0	0	0	13167	1059	37	2		2	RAI14	5	34823781	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08		34823781	146714478	5	876											
BICC1	80114	BI	GRCh38	chr10	58789688	58789688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttttctcttaggaaggaActgccatgctgttagaacat	8	10	1	1	rs755739904		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.802A>G	p.Thr268Ala	p.T268A	ENST00000373886	8/21	173	94	79	143			BICC1,missense_variant,p.T268A,ENST00000373886,NM_001080512.1,c.802A>G,MODERATE,YES,tolerated(0.06),benign(0.001),1;BICC1,upstream_gene_variant,,ENST00000263103,,,MODIFIER,,,,1	G	ENST00000373886	Transcript	missense_variant	missense_variant	806/5475	802/2925	268/974	T/A	Act/Gct	rs755739904	1		1	BICC1	HGNC	HGNC:19351	protein_coding	YES	CCDS31206.1	ENSP00000362993	Q9H694		UPI000059D156	NM_001080512.1	tolerated(0.06)	benign(0.001)	8/21																			MODERATE	1	SNV	2			1	8.236e-06	8.244e-06	0	0	0.0001156	0	0	0	0		PASS	AAGGAACTGCC	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	G	3	3	59	58789688	58789688	A	G	1	0	0	0	0	1	0	0	0	1576	43	2	4		4	BICC1	10	58789688	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		58789688	75007734	6	877											
KNDC1	85442	BI	GRCh38	chr10	133206860	133206860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctccacccacaggttcCgacgtcaagaccatgctgtc	8	16	2	1	rs756533383		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.3486C>T	p.=	p.S1162S	ENST00000304613	19/30	111	103	8	89			KNDC1,synonymous_variant,p.S1162S,ENST00000304613,NM_152643.6,c.3486C>T,LOW,YES,,,1;KNDC1,synonymous_variant,p.S1097S,ENST00000368571,,c.3291C>T,LOW,,,,1	T	ENST00000304613	Transcript	synonymous_variant	synonymous_variant	3507/6793	3486/5250	1162/1749	S	tcC/tcT	rs756533383	1		1	KNDC1	HGNC	HGNC:29374	protein_coding	YES	CCDS7674.1	ENSP00000304437	Q76NI1		UPI00003529F7	NM_152643.6			19/30																			LOW	1	SNV	2			1	8.236e-06	8.244e-06	0	0	0	0	0	0	6.056e-05		PASS	GGTTCCGACGT	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0		COSM5500703;COSM5500704	True	Unknown	T	2	4	59	133206860	133206860	C	T	1	0	0	0	0	0	0	0	1	8304	666	23	2		2	KNDC1	10	133206860	Silent	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08	74417172	133206860	590562	7	878											
MUC5AC	4586	BI	GRCh38	chr11	1168936	1168936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggtggaggccaccgctGcggccttcttcaacaccttc	13	14	2	0	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.1780G>A	p.Ala594Thr	p.A594T	ENST00000621226	15/49	30	15	15	22			MUC5AC,missense_variant,p.A594T,ENST00000621226,NM_001304359.1,c.1780G>A,MODERATE,YES,,unknown(0),1	A	ENST00000621226	Transcript	missense_variant	missense_variant	1827/17448	1780/16965	594/5654	A/T	Gcg/Acg		1		1	MUC5AC	HGNC	HGNC:7515	protein_coding	YES		ENSP00000485659		A0A096LPK4	UPI0004F23658	NM_001304359.1		unknown(0)	15/49		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	5			1											PASS	CCGCTGCGGCC	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	A	3	1	59	1168936	1168936	G	A	1	0	0	0	0	1	0	0	0	9978	1319	46	3		3	MUC5AC	11	1168936	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08		1168936	133917686	8	879											
GNB3	2784	BI	GRCh38	chr12	6843869	6843869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgtctcctgacttcaAtctcttcatttcgggggcct	10	12	4	1	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.590A>G	p.Asn197Ser	p.N197S	ENST00000229264	9/11	63	37	26	59			GNB3,missense_variant,p.N197S,ENST00000229264,NM_002075.2,c.590A>G,MODERATE,YES,tolerated(0.1),benign(0.023),1;GNB3,missense_variant,p.N196S,ENST00000435982,NM_001297571.1,c.587A>G,MODERATE,,tolerated(0.1),benign(0.01),1;GNB3,missense_variant,p.N197S,ENST00000541978,,c.590A>G,MODERATE,,tolerated(0.15),benign(0.023),1;GNB3,missense_variant,p.N196S,ENST00000541257,,c.587A>G,MODERATE,,tolerated(0.11),benign(0.01),1;GNB3,intron_variant,,ENST00000537035,,c.498-31A>G,MODIFIER,,,,1;CDCA3,downstream_gene_variant,,ENST00000422785,,,MODIFIER,,,,-1;P3H3,downstream_gene_variant,,ENST00000290510,NM_014262.4,,MODIFIER,YES,,,1;CDCA3,downstream_gene_variant,,ENST00000538862,NM_031299.4,,MODIFIER,YES,,,-1;CDCA3,downstream_gene_variant,,ENST00000535406,,,MODIFIER,,,,-1;CDCA3,downstream_gene_variant,,ENST00000229265,,,MODIFIER,,,,-1;CDCA3,downstream_gene_variant,,ENST00000540683,NM_001297604.1,,MODIFIER,,,,-1;CDCA3,downstream_gene_variant,,ENST00000604599,,,MODIFIER,,,,-1;CDCA3,downstream_gene_variant,,ENST00000603043,,,MODIFIER,,,,-1;CDCA3,downstream_gene_variant,,ENST00000544610,,,MODIFIER,,,,-1;GNB3,non_coding_transcript_exon_variant,,ENST00000540458,,n.1941A>G,MODIFIER,,,,1;P3H3,downstream_gene_variant,,ENST00000536140,,,MODIFIER,,,,1;P3H3,downstream_gene_variant,,ENST00000612048,,,MODIFIER,,,,1;CDCA3,downstream_gene_variant,,ENST00000536241,,,MODIFIER,,,,-1;GNB3,upstream_gene_variant,,ENST00000542751,,,MODIFIER,,,,1;GNB3,downstream_gene_variant,,ENST00000542868,,,MODIFIER,,,,1;GNB3,downstream_gene_variant,,ENST00000539127,,,MODIFIER,,,,1	G	ENST00000229264	Transcript	missense_variant	missense_variant	995/1923	590/1023	197/340	N/S	aAt/aGt		1		1	GNB3	HGNC	HGNC:4400	protein_coding	YES	CCDS8564.1	ENSP00000229264	P16520	F1T0G5	UPI0000030A36	NM_002075.2	tolerated(0.1)	benign(0.023)	9/11		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978;PIRSF_domain:PIRSF002394																	MODERATE		SNV	5			1											PASS	CTTCAATCTCT	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	G	3	3	59	6843869	6843869	A	G	1	0	0	0	0	1	0	0	0	6398	101	4	4		4	GNB3	12	6843869	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		6843869	126431440	9	880											
MYH2	4620	BI	GRCh38	chr17	10523563	10523563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcagcctcatccagaCggagctgcagatccttcacg	10	15	3	2	rs777282924	byFrequency	TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.5405G>A	p.Arg1802His	p.R1802H	ENST00000245503	37/40	106	58	48	90			MYH2,missense_variant,p.R1802H,ENST00000245503,NM_017534.5,c.5405G>A,MODERATE,YES,deleterious(0.01),benign(0.079),-1;MYH2,missense_variant,p.R1802H,ENST00000397183,NM_001100112.1,c.5405G>A,MODERATE,,deleterious(0.01),benign(0.079),-1;MYH2,intron_variant,,ENST00000532183,,c.1975-2131G>A,MODIFIER,,,,-1;MYH2,intron_variant,,ENST00000622564,,c.1975-2131G>A,MODIFIER,,,,-1;MYHAS,intron_variant,,ENST00000587182,,n.156-43974C>T,MODIFIER,YES,,,1;RP11-799N11.1,intron_variant,,ENST00000399342,,n.207-9761C>T,MODIFIER,YES,,,1;RP11-799N11.1,intron_variant,,ENST00000581304,,n.144-9761C>T,MODIFIER,,,,1	T	ENST00000245503	Transcript	missense_variant	missense_variant	5790/6339	5405/5826	1802/1941	R/H	cGt/cAt	rs777282924	1		-1	MYH2	HGNC	HGNC:7572	protein_coding	YES	CCDS11156.1	ENSP00000245503	Q9UKX2		UPI000012FB6C	NM_017534.5	deleterious(0.01)	benign(0.079)	37/40		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF01576																	MODERATE	1	SNV	1			1	1.647e-05	1.647e-05	0	0	0	0.0003024	0	0	0		PASS	CCAGACGGAGC	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0		COSM1380803	True	Unknown	T	3	4	59	10523563	10523563	C	T	1	0	0	0	0	1	0	0	0	10035	536	19	1		1	MYH2	17	10523563	Missense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		10523563	72733878	10	881											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	59	30	29	77			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0		COSM52969	True	Unknown	T	3	4	59	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		3118944	55498672	11	882											
RYR1	6261	BI	GRCh38	chr19	38492574	38492574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgttggagaaagtgcGgctggtgaagaagaaggaag	18	4	0	4	rs139775280	by1000G;byCluster	TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.6212G>A	p.Arg2071Gln	p.R2071Q	ENST00000359596	38/106	36	21	15	25			RYR1,missense_variant,p.R2071Q,ENST00000355481,NM_001042723.1,c.6212G>A,MODERATE,,,benign(0.069),1;RYR1,missense_variant,p.R2070Q,ENST00000360985,,c.6209G>A,MODERATE,,,benign(0.417),1;RYR1,missense_variant,p.R2071Q,ENST00000359596,NM_000540.2,c.6212G>A,MODERATE,YES,,benign(0.001),1;RYR1,upstream_gene_variant,,ENST00000594335,,,MODIFIER,,,,1	A	ENST00000359596	Transcript	missense_variant	missense_variant	6212/15117	6212/15117	2071/5038	R/Q	cGg/cAg	rs139775280	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2		benign(0.001)	38/106		Low_complexity_(Seg):Seg;Superfamily_domains:SSF47045	2e-04	0	0		0.001	0	0	2e-04	0								MODERATE	1	SNV	5			1	9.884e-05	0.0001002	0	0	0.001049	0	4.563e-05	0	0		PASS	AGTGCGGCTGG	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0	common_in_exac		True	Unknown	A	3	1	59	38492574	38492574	G	A	1	0	0	0	0	1	0	0	0	14028	1116	39	2		2	RYR1	19	38492574	Missense_Mutation	SNP	G	TCGA-VD-AA8R-01A-11D-A39W-08	35373630	38492574	20125042	12	883											
GTSE1	51512	BI	GRCh38	chr22	46308648	46308648	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaaggaaatgaagaAaagccccacgtctcttaaaa	8	7	1	3	novel		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.467A>C	p.Lys156Thr	p.K156T	ENST00000454366	4/12	79	44	35	91			GTSE1,missense_variant,p.K156T,ENST00000454366,NM_016426.6,c.467A>C,MODERATE,YES,deleterious(0),probably_damaging(0.992),1	C	ENST00000454366	Transcript	missense_variant	missense_variant	679/3112	467/2220	156/739	K/T	aAa/aCa		1		1	GTSE1	HGNC	HGNC:13698	protein_coding	YES	CCDS14074.2	ENSP00000415430	Q9NYZ3		UPI000021D19B	NM_016426.6	deleterious(0)	probably_damaging(0.992)	4/12																			MODERATE	1	SNV	1			1											PASS	GAAGAAAAGCC	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0			True	Unknown	C	3	2	59	46308648	46308648	A	C	1	0	0	0	0	1	0	0	0	6766	14	1	5		5	GTSE1	22	46308648	Missense_Mutation	SNP	A	TCGA-VD-AA8R-01A-11D-A39W-08		46308648	4509820	13	884											
EIF1AX	1964	BI	GRCh38	chrX	20138622	20138622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtttttacctcctttaCctgatggtttaaaaaaaaga	6	7	1	2			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	c.17G>A	p.Gly6Asp	p.G6D	ENST00000379607	2/7	40	3	37	128			EIF1AX,missense_variant,p.G6D,ENST00000379607,NM_001412.3,c.17G>A,MODERATE,YES,deleterious(0.01),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2781G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant;splice_region_variant	221/4427	17/435	6/144	G/D	gGt/gAt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0.01)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	CTTTACCTGAT	f8ffa744-616b-47cd-99d9-517f3ddd926b	5ae6c31e-eae4-4255-b559-56d901e00b1c	a6c2c2d1-ad65-4fb2-a3c9-5f7801b19a57	995fcbf5-90aa-4d4a-b57b-46a7129209e0		COSM3736694	True	Unknown	T	3	4	59	20138622	20138622	C	T	1	0	0	0	0	1	0	0	0	4828	521	18	3		3	EIF1AX	23	20138622	Missense_Mutation	SNP	C	TCGA-VD-AA8R-01A-11D-A39W-08		20138622	135902273	14	885											
MACF1	23499	BI	GRCh38	chr1	39387411	39387411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggtgattgtggctgaaGgggaatctctacttctttct	12	6	3	3	novel		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.14584G>A	p.Gly4862Arg	p.G4862R	ENST00000372915	57/97	108	59	49	145			MACF1,missense_variant,p.G4857R,ENST00000564288,,c.14569G>A,MODERATE,,,unknown(0),1;MACF1,missense_variant,p.G4894R,ENST00000567887,,c.14680G>A,MODERATE,,,probably_damaging(0.979),1;MACF1,missense_variant,p.G4862R,ENST00000372915,,c.14584G>A,MODERATE,,,probably_damaging(0.954),1;MACF1,missense_variant,p.G3297R,ENST00000289893,,c.9889G>A,MODERATE,,,probably_damaging(1),1;MACF1,missense_variant,p.G2795R,ENST00000361689,NM_012090.5,c.8383G>A,MODERATE,YES,,probably_damaging(0.997),1;MACF1,missense_variant,p.G1908R,ENST00000372925,,c.5720G>A,MODERATE,,,probably_damaging(0.996),1	A	ENST00000372915	Transcript	missense_variant	missense_variant	14671/23440	14584/22167	4862/7388	G/R	Ggg/Agg		1		1	MACF1	HGNC	HGNC:13664	protein_coding			ENSP00000362006	Q9UPN3		UPI0001F78894			probably_damaging(0.954)	57/97		Pfam_domain:PF00435;SMART_domains:SM00150;Superfamily_domains:SSF46966;Superfamily_domains:SSF48726;Superfamily_domains:SSF53098																	MODERATE		SNV	5			1											PASS	CTGAAGGGGAA	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			True	Unknown	A	3	1	60	39387411	39387411	G	A	1	0	0	0	0	1	0	0	0	9060	1000	35	3		3	MACF1	1	39387411	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		39387411	209569011	1	886											
COA7	65260	BI	GRCh38	chr1	52687998	52687998	+	Frame_Shift_Del	DEL	T	T	-													atagccaccatcacaggcccTtgtgtagtagtccctggcct					novel		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.418delA	p.Arg140GlyfsTer37	p.R140Gfs*37	ENST00000371538	3/3	68	38	30	76			COA7,frameshift_variant,p.R140Gfs*37,ENST00000371538,NM_023077.2,c.418delA,HIGH,YES,,,-1;COA7,non_coding_transcript_exon_variant,,ENST00000486918,,n.472delA,MODIFIER,,,,-1	-	ENST00000371538	Transcript	frameshift_variant	frameshift_variant	458/4005	418/696	140/231	R/X	Agg/gg		1		-1	COA7	HGNC	HGNC:25716	protein_coding	YES	CCDS570.1	ENSP00000360593	Q96BR5		UPI0000034E0F	NM_023077.2			3/3		Pfam_domain:PF08238;SMART_domains:SM00671;Superfamily_domains:SSF81901																	HIGH	1	deletion	1			1											PASS	AGGCCCTTGTGT	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			True	Unknown	-	7	5	60	52687998	52687998	T	-	1	0	1	0	1	0	0	0	0	3440	1608	56	0		0	COA7	1	52687998	Frame_Shift_Del	DEL	T	TCGA-VD-AA8S-01B-11D-A39W-08	13300587	52687998	196268424	2	887											
ITPR1	3708	BI	GRCh38	chr3	4683725	4683725	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggaaaagtcagagctttGggtgtacaaagggcagggcc	16	7	1	1	novel		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.3425G>A	p.Trp1142Ter	p.W1142*	ENST00000354582	28/62	28	12	16	34			ITPR1,stop_gained,p.W1142*,ENST00000354582,,c.3425G>A,HIGH,,,,1;ITPR1,stop_gained,p.W1127*,ENST00000302640,NM_001168272.1,c.3380G>A,HIGH,YES,,,1;ITPR1,stop_gained,p.W1133*,ENST00000357086,NM_001099952.2,c.3398G>A,HIGH,,,,1;ITPR1,stop_gained,p.W1118*,ENST00000456211,NM_002222.5,c.3353G>A,HIGH,,,,1;ITPR1,stop_gained,p.W1127*,ENST00000443694,,c.3380G>A,HIGH,,,,1;ITPR1,intron_variant,,ENST00000544951,,c.996+29839G>A,MODIFIER,,,,1	A	ENST00000354582	Transcript	stop_gained	stop_gained	3775/10242	3425/8277	1142/2758	W/*	tGg/tAg		1		1	ITPR1	HGNC	HGNC:6180	protein_coding			ENSP00000346595	Q14643						28/62		Superfamily_domains:SSF100909																	HIGH		SNV	5			1											PASS	GCTTTGGGTGT	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			True	Unknown	A	4	1	60	4683725	4683725	G	A	1	0	0	0	0	0	1	0	0	7826	1357	47	3		3	ITPR1	3	4683725	Nonsense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		4683725	193611834	3	888											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	82	30	52	69			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901		COSM28758	True	Unknown	G	3	3	60	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-VD-AA8S-01B-11D-A39W-08		77794572	60600145	4	889											
KCNK13	56659	BI	GRCh38	chr14	90184798	90184798	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgacacggacgggcgccGgctctcaggggagatgatct	17	10	2	3	rs538269862	byCluster;byFrequency	TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.1022G>A	p.Arg341Gln	p.R341Q	ENST00000282146	2/2	43	29	14	64			KCNK13,missense_variant,p.R341Q,ENST00000282146,NM_022054.3,c.1022G>A,MODERATE,YES,deleterious(0),probably_damaging(0.917),1	A	ENST00000282146	Transcript	missense_variant	missense_variant	1463/2522	1022/1227	341/408	R/Q	cGg/cAg	rs538269862	1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3	deleterious(0)	probably_damaging(0.917)	2/2																			MODERATE	1	SNV	1			1	4.942e-05	5.011e-05	0	0	0	0	0	0	0.0003644		PASS	GCGCCGGCTCT	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			True	Unknown	A	3	1	60	90184798	90184798	G	A	1	0	0	0	0	1	0	0	0	7978	1116	39	2		2	KCNK13	14	90184798	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08		90184798	16858920	5	890											
SERPINA9	327657	BI	GRCh38	chr14	94469614	94469614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagcatggccagggaagtgGagacactcacaggggagaag	17	7	1	3	novel		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.227C>T	p.Ser76Phe	p.S76F	ENST00000380365	2/5	49	25	24	45			SERPINA9,missense_variant,p.S94F,ENST00000337425,NM_001284275.1&NM_175739.3,c.281C>T,MODERATE,YES,deleterious(0),probably_damaging(0.925),-1;SERPINA9,missense_variant,p.S76F,ENST00000380365,,c.227C>T,MODERATE,,deleterious(0),probably_damaging(0.955),-1;SERPINA9,missense_variant,p.S58F,ENST00000546329,,c.173C>T,MODERATE,,deleterious(0),probably_damaging(0.946),-1;SERPINA9,5_prime_UTR_variant,,ENST00000448305,,c.-14C>T,MODIFIER,,,,-1;SERPINA9,intron_variant,,ENST00000424550,NM_001284276.1,c.-19-148C>T,MODIFIER,,,,-1;SERPINA9,intron_variant,,ENST00000298845,NM_001042518.1,c.270+11C>T,MODIFIER,,,,-1;RP11-349I1.2,downstream_gene_variant,,ENST00000536735,,,MODIFIER,YES,,,1;SERPINA9,downstream_gene_variant,,ENST00000539349,,,MODIFIER,,,,-1;SERPINA9,synonymous_variant,p.L121L,ENST00000538527,,c.363C>T,LOW,,,,-1	A	ENST00000380365	Transcript	missense_variant	missense_variant	306/1333	227/1254	76/417	S/F	tCc/tTc		1		-1	SERPINA9	HGNC	HGNC:15995	protein_coding			ENSP00000369723	Q86WD7		UPI000003B052		deleterious(0)	probably_damaging(0.955)	2/5		Pfam_domain:PF00079;SMART_domains:SM00093;Superfamily_domains:SSF56574																	MODERATE		SNV	5			1											PASS	AAGTGGAGACA	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			True	Unknown	A	3	1	60	94469614	94469614	G	A	1	0	0	0	0	1	0	0	0	14371	1174	41	3		3	SERPINA9	14	94469614	Missense_Mutation	SNP	G	TCGA-VD-AA8S-01B-11D-A39W-08	4284816	94469614	12574104	6	891											
RASGRF1	5923	BI	GRCh38	chr15	79049587	79049588	+	Frame_Shift_Ins	INS	-	-	TT													gtccttgagcagggatgtgaINStctgcaacagcaacacaggt					novel		TCGA-VD-AA8S-01B-11D-A39W-08	TCGA-VD-AA8S-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0dad439f-2dc6-4792-b5db-0c352d65475d	b5429def-e382-4d1d-8fa6-4d75926faa59	c.532_533insAA	p.Ile178LysfsTer115	p.I178Kfs*115	ENST00000419573	4/28	46	43	3	59			RASGRF1,frameshift_variant,p.I178Kfs*115,ENST00000419573,NM_002891.4,c.532_533insAA,HIGH,YES,,,-1;RASGRF1,frameshift_variant,p.I178Kfs*115,ENST00000558480,NM_001145648.1,c.532_533insAA,HIGH,,,,-1;RASGRF1,splice_region_variant,,ENST00000560334,,n.393_394insAA,LOW,,,,-1	TT	ENST00000419573	Transcript	frameshift_variant	frameshift_variant;splice_region_variant	807-808/6294	532-533/3822	178/1273	I/KX	atc/aAAtc		1		-1	RASGRF1	HGNC	HGNC:9875	protein_coding	YES	CCDS10309.1	ENSP00000405963	Q13972		UPI000013D1F1	NM_002891.4			4/28		Coiled-coils_(Ncoils):ncoils																	HIGH	1	insertion	2			1											PASS	ATGTGATCTGC	39807ea0-f2c6-4cfd-842d-b89b985292cd	cfc23ae0-f005-48a6-8e96-6358fac98a73	654551d8-1797-4dbf-b43f-8c21a2b300d0	9752c320-79eb-49ea-aa1f-d7a79bead901			False	Unknown	TT	7	5	60	79049587	79049587	-	TT	1	0	1	1	0	0	0	0	0	13233	347	12	0		0	RASGRF1	15	79049587	Frame_Shift_Ins	INS	-	TCGA-VD-AA8S-01B-11D-A39W-08		79049587	22941602	7	892											
IL24	11009	BI	GRCh38	chr1	206900346	206900346	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagcaggaggttctgCagaacgtctcggtaatcaga	13	9	3	2	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.292C>T	p.Gln98Ter	p.Q98*	ENST00000294984	4/7	55	29	26	98			IL24,stop_gained,p.Q99*,ENST00000367093,NM_001185157.1,c.295C>T,HIGH,,,,1;IL24,stop_gained,p.Q98*,ENST00000294984,NM_006850.3,c.292C>T,HIGH,,,,1;IL24,stop_gained,p.Q99*,ENST00000391929,NM_001185156.1,c.295C>T,HIGH,YES,,,1;IL24,synonymous_variant,p.C32C,ENST00000611909,NM_001185158.1,c.96C>T,LOW,,,,1;IL24,synonymous_variant,p.C32C,ENST00000480741,,c.96C>T,LOW,,,,1;FAIM3,downstream_gene_variant,,ENST00000367091,NM_005449.4,,MODIFIER,YES,,,-1;FAIM3,downstream_gene_variant,,ENST00000442471,NM_001142473.1,,MODIFIER,,,,-1;FAIM3,downstream_gene_variant,,ENST00000628511,NM_001193338.1,,MODIFIER,,,,-1;IL24,non_coding_transcript_exon_variant,,ENST00000491169,,n.203C>T,MODIFIER,,,,1;FAIM3,downstream_gene_variant,,ENST00000528654,,,MODIFIER,,,,-1;IL24,synonymous_variant,p.C32C,ENST00000367095,,c.96C>T,LOW,,,,1;FAIM3,downstream_gene_variant,,ENST00000463473,,,MODIFIER,,,,-1;FAIM3,downstream_gene_variant,,ENST00000474041,,,MODIFIER,,,,-1	T	ENST00000294984	Transcript	stop_gained	stop_gained	566/1701	292/621	98/206	Q/*	Cag/Tag		1		1	IL24	HGNC	HGNC:11346	protein_coding		CCDS1471.1	ENSP00000294984	Q13007		UPI0000037343	NM_006850.3			4/7		Superfamily_domains:SSF47266																	HIGH		SNV	1			1											PASS	TTCTGCAGAAC	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	4	4	61	206900346	206900346	C	T	1	0	0	0	0	0	1	0	0	7580	720	25	3		3	IL24	1	206900346	Nonsense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		206900346	42056076	1	893											
BAP1	8314	BI	GRCh38	chr3	52403653	52403654	+	Frame_Shift_Ins	INS	-	-	A													ttgaaagcactgccgatctcINSagaggccgtgtctgtactct					novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.1491dupT	p.Glu498Ter	p.E498*	ENST00000460680	13/17	11	1	10	26			BAP1,frameshift_variant,p.E498*,ENST00000460680,NM_004656.3,c.1491dupT,HIGH,YES,,,-1;BAP1,frameshift_variant,p.E480*,ENST00000296288,,c.1437dupT,HIGH,,,,-1;BAP1,intron_variant,,ENST00000469613,,c.119+147dupT,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	A	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	1963-1964/3937	1491-1492/2190	497-498/729	-/X	-/T		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			13/17																			HIGH	1	insertion	1			1											PASS	GATCTCAGAGG	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			False	Unknown	A	7	5	61	52403653	52403653	-	A	1	0	1	1	0	0	0	0	0	1463	835	29	0		0	BAP1	3	52403653	Frame_Shift_Ins	INS	-	TCGA-VD-AA8T-01A-11D-A39W-08		52403653	145891906	2	894											
GRM6	2916	BI	GRCh38	chr5	178983054	178983054	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatggcgtacactgtgcaCgtgaccatgagcaggaggct	14	9	0	3	rs781607214	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.2292G>A	p.=	p.T764T	ENST00000231188	9/10	60	30	30	78			GRM6,synonymous_variant,p.T764T,ENST00000231188,NM_000843.3,c.2292G>A,LOW,YES,,,-1;GRM6,synonymous_variant,p.T764T,ENST00000517717,,c.2292G>A,LOW,,,,-1;RP11-281O15.4,intron_variant,,ENST00000519491,,n.305-6693C>T,MODIFIER,YES,,,1;GRM6,non_coding_transcript_exon_variant,,ENST00000519003,,n.291G>A,MODIFIER,,,,-1;GRM6,downstream_gene_variant,,ENST00000518082,,,MODIFIER,,,,-1	T	ENST00000231188	Transcript	synonymous_variant	synonymous_variant	2471/6143	2292/2634	764/877	T	acG/acA	rs781607214	1		-1	GRM6	HGNC	HGNC:4598	protein_coding	YES	CCDS4442.1	ENSP00000231188	O15303		UPI000013C947	NM_000843.3			9/10		Pfam_domain:PF00003;Transmembrane_helices:Tmhmm;Prints_domain:PR00248;PROSITE_profiles:PS50259																	LOW	1	SNV	2			1	8.236e-06	8.242e-06	0	0	0	0	1.5e-05	0	0		PASS	GTGCACGTGAC	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	2	4	61	178983054	178983054	C	T	1	0	0	0	0	0	0	0	1	6683	523	19	1		1	GRM6	5	178983054	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		178983054	2555205	3	895											
DOPEY1	23033	BI	GRCh38	chr6	83158619	83158619	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cactgctgatgaagatatttCacggtaatatgtaatttaaa	7	5	1	3	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.6794C>T	p.Ser2265Leu	p.S2265L	ENST00000349129	36/39	33	17	16	26			DOPEY1,missense_variant,p.S2265L,ENST00000349129,NM_015018.3,c.6794C>T,MODERATE,,tolerated(0.44),benign(0.002),1;DOPEY1,missense_variant,p.S2256L,ENST00000237163,NM_001199942.1,c.6767C>T,MODERATE,YES,tolerated(0.44),benign(0.018),1;DOPEY1,missense_variant,p.S2256L,ENST00000369739,,c.6767C>T,MODERATE,,tolerated(0.44),benign(0.018),1;DOPEY1,non_coding_transcript_exon_variant,,ENST00000484282,,n.3161C>T,MODIFIER,,,,1;DOPEY1,downstream_gene_variant,,ENST00000481979,,,MODIFIER,,,,1;PGM3,downstream_gene_variant,,ENST00000504780,,,MODIFIER,,,,-1	T	ENST00000349129	Transcript	missense_variant	missense_variant	7054/8210	6794/7398	2265/2465	S/L	tCa/tTa		1		1	DOPEY1	HGNC	HGNC:21194	protein_coding		CCDS4996.1	ENSP00000195654	Q5JWR5		UPI00001C1574	NM_015018.3	tolerated(0.44)	benign(0.002)	36/39																			MODERATE		SNV	1			1											PASS	TATTTCACGGT	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	3	4	61	83158619	83158619	C	T	1	0	0	0	0	1	0	0	0	4521	840	29	3		3	DOPEY1	6	83158619	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		83158619	87647360	4	896											
PPP2R2A	5520	BI	GRCh38	chr8	26354572	26354572	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtttagaaatagaagaaaaGatcaacaaaattaggtggtt	9	2	1	4	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.285G>C	p.Lys95Asn	p.K95N	ENST00000380737	4/10	112	82	30	87			PPP2R2A,missense_variant,p.K95N,ENST00000380737,NM_002717.3,c.285G>C,MODERATE,,deleterious(0),probably_damaging(0.986),1;PPP2R2A,missense_variant,p.K105N,ENST00000315985,NM_001177591.1,c.315G>C,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;PPP2R2A,5_prime_UTR_variant,,ENST00000522535,,c.-193G>C,MODIFIER,,,,1;PPP2R2A,5_prime_UTR_variant,,ENST00000521557,,c.-193G>C,MODIFIER,,,,1;PPP2R2A,5_prime_UTR_variant,,ENST00000523925,,c.-193G>C,MODIFIER,,,,1;PPP2R2A,intron_variant,,ENST00000524169,,c.-77-6529G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000522482,,n.511G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000519636,,n.500G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000524099,,n.439G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000523964,,n.322G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000520438,,n.160G>C,MODIFIER,,,,1;PPP2R2A,downstream_gene_variant,,ENST00000521095,,,MODIFIER,,,,1;PPP2R2A,missense_variant,p.K95N,ENST00000518397,,c.285G>C,MODERATE,,deleterious(0),probably_damaging(0.999),1;PPP2R2A,3_prime_UTR_variant,,ENST00000520329,,c.*268G>C,MODIFIER,,,,1;PPP2R2A,3_prime_UTR_variant,,ENST00000518254,,c.*249G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000518215,,n.154G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000519439,,n.372G>C,MODIFIER,,,,1;PPP2R2A,non_coding_transcript_exon_variant,,ENST00000521484,,n.425G>C,MODIFIER,,,,1	C	ENST00000380737	Transcript	missense_variant	missense_variant	614/3940	285/1344	95/447	K/N	aaG/aaC		1		1	PPP2R2A	HGNC	HGNC:9304	protein_coding		CCDS34867.1	ENSP00000370113	P63151		UPI000000D997	NM_002717.3	deleterious(0)	probably_damaging(0.986)	4/10		Pfam_domain:PF00400;Prints_domain:PR00600;SMART_domains:SM00320;Superfamily_domains:SSF50978;PIRSF_domain:PIRSF037309																	MODERATE		SNV	1			1											PASS	GAAAAGATCAA	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	C	3	2	61	26354572	26354572	G	C	1	0	0	0	0	1	0	0	0	12507	933	33	5		5	PPP2R2A	8	26354572	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		26354572	118784064	5	897											
JAML	120425	BI	GRCh38	chr11	118200599	118200599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagaggcctcagggctgcCggggtcaccagtgcttggga	16	12	2	1	rs377621403	byCluster;byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.786G>A	p.=	p.P262P	ENST00000356289	7/10	37	21	16	60			AMICA1,synonymous_variant,p.P252P,ENST00000292067,NM_153206.2,c.756G>A,LOW,,,,-1;AMICA1,synonymous_variant,p.P262P,ENST00000356289,NM_001098526.1,c.786G>A,LOW,YES,,,-1;AMICA1,synonymous_variant,p.P251P,ENST00000533261,,c.753G>A,LOW,,,,-1;AMICA1,synonymous_variant,p.P223P,ENST00000526620,NM_001286571.1&NM_001286570.1,c.669G>A,LOW,,,,-1;AMICA1,synonymous_variant,p.P223P,ENST00000526595,,c.669G>A,LOW,,,,-1;AMICA1,non_coding_transcript_exon_variant,,ENST00000534294,,n.3675G>A,MODIFIER,,,,-1;AMICA1,non_coding_transcript_exon_variant,,ENST00000531530,,n.1977G>A,MODIFIER,,,,-1;AMICA1,non_coding_transcript_exon_variant,,ENST00000529164,,n.877G>A,MODIFIER,,,,-1	T	ENST00000356289	Transcript	synonymous_variant	synonymous_variant	960/1944	786/1185	262/394	P	ccG/ccA	rs377621403	1		-1	AMICA1	HGNC	HGNC:19084	protein_coding	YES	CCDS41723.1	ENSP00000348635	Q86YT9		UPI000000D82D	NM_001098526.1			7/10										0	1e-04								LOW	1	SNV	1			1	4.942e-05	4.948e-05	0	0	0	0	7.501e-05	0	6.058e-05		PASS	GCTGCCGGGGT	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	2	4	61	118200599	118200599	C	T	1	0	0	0	0	0	0	0	1	7858	639	23	2		2	JAML	11	118200599	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08		118200599	16886023	6	898											
TPCN1	53373	BI	GRCh38	chr12	113226922	113226922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggtggcagtgccccactgGctccctccaacggcctgggc	14	16	0	0	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.70G>T	p.Ala24Ser	p.A24S	ENST00000335509	2/28	33	23	10	39			TPCN1,missense_variant,p.A96S,ENST00000550785,NM_001143819.1&NM_001301214.1,c.286G>T,MODERATE,YES,tolerated(0.2),benign(0.01),1;TPCN1,missense_variant,p.A24S,ENST00000335509,NM_017901.4&NM_001301214.1,c.70G>T,MODERATE,,tolerated(0.41),benign(0.005),1;TPCN1,missense_variant,p.A96S,ENST00000541517,,c.286G>T,MODERATE,,tolerated(0.2),benign(0.01),1;TPCN1,missense_variant,p.A110S,ENST00000552985,,c.328G>T,MODERATE,,tolerated_low_confidence(0.06),benign(0.376),1;TPCN1,missense_variant,p.A24S,ENST00000551099,,c.70G>T,MODERATE,,,,1;TPCN1,missense_variant,p.A79S,ENST00000547275,,c.235G>T,MODERATE,,tolerated_low_confidence(0.1),benign(0.245),1;TPCN1,missense_variant,p.A24S,ENST00000549279,,c.70G>T,MODERATE,,,,1;TPCN1,missense_variant,p.A96S,ENST00000551096,,c.286G>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.706),1;TPCN1,missense_variant,p.A24S,ENST00000550873,,c.70G>T,MODERATE,,tolerated(0.24),benign(0.005),1;TPCN1,intron_variant,,ENST00000552897,,c.-93+5296G>T,MODIFIER,,,,1;TPCN1,intron_variant,,ENST00000552642,,c.40+5686G>T,MODIFIER,,,,1;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,,n.336G>T,MODIFIER,,,,1	T	ENST00000335509	Transcript	missense_variant	missense_variant	384/5274	70/2451	24/816	A/S	Gct/Tct		1		1	TPCN1	HGNC	HGNC:18182	protein_coding		CCDS31908.1	ENSP00000335300	Q9ULQ1		UPI0000041252	NM_017901.4;NM_001301214.1	tolerated(0.41)	benign(0.005)	2/28																			MODERATE		SNV	1			1											PASS	CACTGGCTCCC	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	3	4	61	113226922	113226922	G	T	1	0	0	0	0	1	0	0	0	16874	1203	42	5		5	TPCN1	12	113226922	Missense_Mutation	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08		113226922	20048387	7	899											
ADAM21	8747	BI	GRCh38	chr14	70459167	70459167	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctaaaatgtcatatctcTgatgtcttttgtgggagagt	9	6	3	2	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.1668T>C	p.=	p.S556S	ENST00000603540	2/2	45	22	23	142			ADAM21,synonymous_variant,p.S556S,ENST00000603540,NM_003813.3,c.1668T>C,LOW,YES,,,1;RP11-486O13.4,intron_variant,,ENST00000556646,,n.184-5658A>G,MODIFIER,YES,,,-1	C	ENST00000603540	Transcript	synonymous_variant	synonymous_variant	1926/2658	1668/2169	556/722	S	tcT/tcC		1		1	ADAM21	HGNC	HGNC:200	protein_coding	YES	CCDS9804.1	ENSP00000474385	Q9UKJ8		UPI000013D756	NM_003813.3			2/2		Pfam_domain:PF08516;SMART_domains:SM00608																	LOW	1	SNV	3			1											PASS	ATCTCTGATGT	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	C	2	2	61	70459167	70459167	T	C	1	0	0	0	0	0	0	0	1	287	1567	55	4		4	ADAM21	14	70459167	Silent	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		70459167	36584551	8	900											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	61	37	24	85			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1		COSM52969	True	Unknown	T	3	4	61	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-VD-AA8T-01A-11D-A39W-08		3118944	55498672	9	901											
RYR1	6261	BI	GRCh38	chr19	38489266	38489266	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagaagaggaggaggaCgaggaggaagagggtgaaga	22	1	0	5	rs143418190	byCluster;byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.5637C>T	p.=	p.D1879D	ENST00000359596	35/106	25	13	12	32			RYR1,synonymous_variant,p.D1879D,ENST00000355481,NM_001042723.1,c.5637C>T,LOW,,,,1;RYR1,synonymous_variant,p.D1878D,ENST00000360985,,c.5634C>T,LOW,,,,1;RYR1,synonymous_variant,p.D1879D,ENST00000359596,NM_000540.2,c.5637C>T,LOW,YES,,,1	T	ENST00000359596	Transcript	synonymous_variant	synonymous_variant	5637/15117	5637/15117	1879/5038	D	gaC/gaT	rs143418190	1		1	RYR1	HGNC	HGNC:10483	protein_coding	YES	CCDS33011.1	ENSP00000352608	P21817		UPI0000D7E62F	NM_000540.2			35/106		Low_complexity_(Seg):Seg;Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313								2e-04	7e-04	uncertain_significance							LOW	1	SNV	5		1	1	0.0001236	0.000125	0	0.0001766	0	0	0.0001819	0	6.098e-05		panel_of_normals	GAGGACGAGGA	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1	gdc_pon		True	Unknown	T	2	4	61	38489266	38489266	C	T	1	0	0	0	0	0	0	0	1	14028	535	19	1		1	RYR1	19	38489266	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	35370322	38489266	20128350	10	902											
FCGRT	2217	BI	GRCh38	chr19	49525517	49525517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcggtgtcttgctactcaCggcagcggctgtaggaggag	15	10	2	0	rs778656931		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.932C>T	p.Thr311Met	p.T311M	ENST00000221466	6/7	60	40	20	83			FCGRT,missense_variant,p.T311M,ENST00000221466,NM_001136019.2,c.932C>T,MODERATE,YES,tolerated(0.31),benign(0.009),1;FCGRT,missense_variant,p.T311M,ENST00000426395,NM_004107.4,c.932C>T,MODERATE,,tolerated(0.31),benign(0.009),1;FCGRT,missense_variant,p.T219M,ENST00000596975,,c.656C>T,MODERATE,,tolerated(0.3),possibly_damaging(0.897),1;FCGRT,missense_variant,p.T45M,ENST00000599988,,c.134C>T,MODERATE,,tolerated_low_confidence(0.25),benign(0.002),1;FCGRT,intron_variant,,ENST00000598076,,c.353-493C>T,MODIFIER,,,,1;RCN3,upstream_gene_variant,,ENST00000270645,NM_020650.2,,MODIFIER,YES,,,1;RCN3,upstream_gene_variant,,ENST00000598833,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000593381,,,MODIFIER,,,,1;RCN3,upstream_gene_variant,,ENST00000597801,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000594823,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000595677,,,MODIFIER,,,,1;RCN3,upstream_gene_variant,,ENST00000593644,,,MODIFIER,,,,1;FCGRT,3_prime_UTR_variant,,ENST00000598927,,c.*466C>T,MODIFIER,,,,1;FCGRT,non_coding_transcript_exon_variant,,ENST00000595881,,n.2303C>T,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598319,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000452439,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000598936,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000593431,,,MODIFIER,,,,1;FCGRT,downstream_gene_variant,,ENST00000596147,,,MODIFIER,,,,1	T	ENST00000221466	Transcript	missense_variant	missense_variant	1418/1798	932/1098	311/365	T/M	aCg/aTg	rs778656931	1		1	FCGRT	HGNC	HGNC:3621	protein_coding	YES	CCDS12770.1	ENSP00000221466	P55899	A0A024QZI2	UPI0000119C21	NM_001136019.2	tolerated(0.31)	benign(0.009)	6/7		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1	8.236e-06	8.242e-06	9.625e-05	0	0	0	0	0	0		PASS	ACTCACGGCAG	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	3	4	61	49525517	49525517	C	T	1	0	0	0	0	1	0	0	0	5648	536	19	1		1	FCGRT	19	49525517	Missense_Mutation	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	11036251	49525517	9092099	11	903											
ZNF836	162962	BI	GRCh38	chr19	52156003	52156003	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtaattgaagaccttGccacacacattacatttgta	5	11	0	2	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.1680C>G	p.=	p.G560G	ENST00000597252	5/5	178	122	56	198			ZNF836,synonymous_variant,p.G560G,ENST00000597252,NM_001102657.1,c.1680C>G,LOW,YES,,,-1;ZNF836,synonymous_variant,p.G560G,ENST00000322146,,c.1680C>G,LOW,,,,-1;ZNF836,downstream_gene_variant,,ENST00000597065,,,MODIFIER,,,,-1;ZNF836,downstream_gene_variant,,ENST00000596428,,,MODIFIER,,,,-1;CTC-471J1.8,intron_variant,,ENST00000594362,,n.554+4462C>G,MODIFIER,YES,,,-1;CTC-471J1.8,intron_variant,,ENST00000598982,,n.494+4462C>G,MODIFIER,,,,-1;ZNF836,upstream_gene_variant,,ENST00000599618,,,MODIFIER,,,,-1	C	ENST00000597252	Transcript	synonymous_variant	synonymous_variant	2054/3209	1680/2811	560/936	G	ggC/ggG		1		-1	ZNF836	HGNC	HGNC:34333	protein_coding	YES	CCDS46162.1	ENSP00000470239	Q6ZNA1		UPI00001D818C	NM_001102657.1			5/5		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	LOW	1	SNV	2			1											PASS	ACCTTGCCACA	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	C	2	2	61	52156003	52156003	G	C	1	0	0	0	0	0	0	0	1	18772	1306	46	5		5	ZNF836	19	52156003	Silent	SNP	G	TCGA-VD-AA8T-01A-11D-A39W-08	2630486	52156003	6461613	12	904											
RRBP1	6238	BI	GRCh38	chr20	17658650	17658650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaggagcctcttgctTtggtgcctctgggctctggg	15	11	3	0	rs758259417		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.568A>G	p.Lys190Glu	p.K190E	ENST00000377807	4/26	134	82	52	136			RRBP1,missense_variant,p.K620E,ENST00000377813,,c.1858A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.877),-1;RRBP1,missense_variant,p.K620E,ENST00000246043,,c.1858A>G,MODERATE,,deleterious(0.01),possibly_damaging(0.877),-1;RRBP1,missense_variant,p.K190E,ENST00000377807,NM_001042576.1,c.568A>G,MODERATE,YES,deleterious(0.03),possibly_damaging(0.486),-1;RRBP1,missense_variant,p.K190E,ENST00000360807,NM_004587.2,c.568A>G,MODERATE,,deleterious(0.03),possibly_damaging(0.486),-1;RRBP1,missense_variant,p.K144E,ENST00000610403,,c.430A>G,MODERATE,,deleterious(0),possibly_damaging(0.69),-1;RRBP1,intron_variant,,ENST00000455029,,c.-65-15523A>G,MODIFIER,,,,-1;RRBP1,downstream_gene_variant,,ENST00000398782,,,MODIFIER,,,,-1;RRBP1,missense_variant,p.K95E,ENST00000495501,,c.283A>G,MODERATE,,deleterious_low_confidence(0),unknown(0),-1	C	ENST00000377807	Transcript	missense_variant	missense_variant	922/3792	568/2934	190/977	K/E	Aag/Gag	rs758259417	1		-1	RRBP1	HGNC	HGNC:10448	protein_coding	YES	CCDS13128.1	ENSP00000367038	Q9P2E9		UPI000002B2C0	NM_001042576.1	deleterious(0.03)	possibly_damaging(0.486)	4/26		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	5			1	8.236e-06	8.242e-06	0	8.637e-05	0	0	0	0	0		PASS	TTGCTTTGGTG	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	C	3	2	61	17658650	17658650	T	C	1	0	0	0	0	1	0	0	0	13932	1850	64	4		4	RRBP1	20	17658650	Missense_Mutation	SNP	T	TCGA-VD-AA8T-01A-11D-A39W-08		17658650	46785517	13	905											
HELZ2	85441	BI	GRCh38	chr20	63562121	63562121	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagagcctccctgacCgccacgttctggctggggtt	11	15	2	2	novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.6480G>A	p.=	p.A2160A	ENST00000467148	10/19	11	5	6	23			HELZ2,synonymous_variant,p.A2160A,ENST00000467148,NM_001037335.2,c.6480G>A,LOW,YES,,,-1;HELZ2,synonymous_variant,p.A1591A,ENST00000427522,NM_033405.3,c.4773G>A,LOW,,,,-1;HELZ2,upstream_gene_variant,,ENST00000478861,,,MODIFIER,,,,-1	T	ENST00000467148	Transcript	synonymous_variant	synonymous_variant	6550/8064	6480/7950	2160/2649	A	gcG/gcA		1		-1	HELZ2	HGNC	HGNC:30021	protein_coding	YES	CCDS33508.1	ENSP00000417401	Q9BYK8		UPI0000246BF7	NM_001037335.2			10/19		Superfamily_domains:SSF52540;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	CTGACCGCCAC	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	T	2	4	61	63562121	63562121	C	T	1	0	0	0	0	0	0	0	1	6932	639	23	2		2	HELZ2	20	63562121	Silent	SNP	C	TCGA-VD-AA8T-01A-11D-A39W-08	45903471	63562121	882046	14	906											
PAXBP1	94104	BI	GRCh38	chr21	32744843	32744843	+	Frame_Shift_Del	DEL	T	T	-													gaaggatatccattgattaaTtttagtgtaattcccaccat					novel		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	c.2139delA	p.Lys713AsnfsTer2	p.K713Nfs*2	ENST00000331923	13/18	90	53	37	120			PAXBP1,frameshift_variant,p.K713Nfs*2,ENST00000331923,NM_016631.3,c.2139delA,HIGH,YES,,,-1;PAXBP1,frameshift_variant,p.K713Nfs*2,ENST00000290178,NM_013329.3,c.2139delA,HIGH,,,,-1;PAXBP1-AS1,downstream_gene_variant,,ENST00000440052,,,MODIFIER,YES,,,1;PAXBP1,3_prime_UTR_variant,,ENST00000443785,,c.*620delA,MODIFIER,,,,-1;PAXBP1,non_coding_transcript_exon_variant,,ENST00000466846,,n.2214delA,MODIFIER,,,,-1;PAXBP1,non_coding_transcript_exon_variant,,ENST00000497873,,n.1538delA,MODIFIER,,,,-1;PAXBP1,upstream_gene_variant,,ENST00000445049,,,MODIFIER,,,,-1;PAXBP1,downstream_gene_variant,,ENST00000421049,,,MODIFIER,,,,-1	-	ENST00000331923	Transcript	frameshift_variant	frameshift_variant	2329/3995	2139/2754	713/917	K/X	aaA/aa		1		-1	PAXBP1	HGNC	HGNC:13579	protein_coding	YES	CCDS13619.1	ENSP00000328992	Q9Y5B6		UPI000012B294	NM_016631.3			13/18		Pfam_domain:PF07842																	HIGH	1	deletion	1			1											PASS	GATTAATTTTAG	99bcbaa0-17ea-47d7-8556-0f24109cc988	a1b7a52c-a1d2-47c4-a7f2-2b4e3077ddce	f9b80fca-8a7f-4f8e-8bb2-9ae311969aad	9e35ef82-55b0-460b-8ab9-8cd708efa3b1			True	Unknown	-	7	5	61	32744843	32744843	T	-	1	0	1	0	1	0	0	0	0	11572	1490	52	0		0	PAXBP1	21	32744843	Frame_Shift_Del	DEL	T	TCGA-VD-AA8T-01A-11D-A39W-08		32744843	13965140	15	907											
CSDE1	7812	BI	GRCh38	chr1	114730268	114730268	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caaaacctaccttctctttgCctttatttgggctagtggtt	7	10	1	0	novel		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.1346G>C	p.Gly449Ala	p.G449A	ENST00000358528	12/20	80	76	4	77			CSDE1,missense_variant,p.G495A,ENST00000610726,NM_001242891.1,c.1484G>C,MODERATE,YES,tolerated(0.44),benign(0.004),-1;CSDE1,missense_variant,p.G495A,ENST00000438362,,c.1484G>C,MODERATE,,tolerated(0.44),benign(0.004),-1;CSDE1,missense_variant,p.G449A,ENST00000358528,NM_001007553.2,c.1346G>C,MODERATE,,tolerated(0.38),benign(0.001),-1;CSDE1,missense_variant,p.G418A,ENST00000339438,NM_007158.5,c.1253G>C,MODERATE,,tolerated(0.44),benign(0.048),-1;CSDE1,missense_variant,p.G464A,ENST00000369530,NM_001130523.2,c.1391G>C,MODERATE,,tolerated(0.33),benign(0.048),-1;CSDE1,missense_variant,p.G319A,ENST00000530886,,c.956G>C,MODERATE,,tolerated(0.41),benign(0.048),-1;CSDE1,missense_variant,p.G418A,ENST00000261443,NM_001242893.1,c.1253G>C,MODERATE,,tolerated(0.44),benign(0.048),-1;CSDE1,missense_variant,p.G449A,ENST00000534699,NM_001242892.1,c.1346G>C,MODERATE,,tolerated(0.38),benign(0.001),-1;CSDE1,downstream_gene_variant,,ENST00000529046,,,MODIFIER,,,,-1;RNY1P13,downstream_gene_variant,,ENST00000365030,,,MODIFIER,YES,,,1;CSDE1,upstream_gene_variant,,ENST00000483030,,,MODIFIER,,,,-1	G	ENST00000358528	Transcript	missense_variant	missense_variant	1773/4076	1346/2397	449/798	G/A	gGc/gCc		1		-1	CSDE1	HGNC	HGNC:29905	protein_coding		CCDS30812.1	ENSP00000351329	O75534	A0A024R0E2	UPI0000137C99	NM_001007553.2	tolerated(0.38)	benign(0.001)	12/20																			MODERATE		SNV	1			1											PASS	CTTTGCCTTTA	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			False	Unknown	G	3	3	62	114730268	114730268	C	G	1	0	0	0	0	1	0	0	0	3730	739	26	5		5	CSDE1	1	114730268	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		114730268	134226154	1	908											
ZNF281	23528	BI	GRCh38	chr1	200408328	200408328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaattttggcaccctctTctgcagttcatctattccag	6	12	5	0	novel		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.1378A>G	p.Lys460Glu	p.K460E	ENST00000294740	2/2	59	33	26	50			ZNF281,missense_variant,p.K460E,ENST00000294740,NM_012482.4&NM_001281293.1,c.1378A>G,MODERATE,YES,tolerated(1),possibly_damaging(0.628),-1;ZNF281,missense_variant,p.K460E,ENST00000367353,,c.1378A>G,MODERATE,,tolerated(1),possibly_damaging(0.628),-1;ZNF281,missense_variant,p.K424E,ENST00000367352,NM_001281294.1,c.1270A>G,MODERATE,,tolerated(0.91),possibly_damaging(0.628),-1	C	ENST00000294740	Transcript	missense_variant	missense_variant	1503/4891	1378/2688	460/895	K/E	Aag/Gag		1		-1	ZNF281	HGNC	HGNC:13075	protein_coding	YES	CCDS1402.1	ENSP00000294740	Q9Y2X9		UPI000013C345	NM_012482.4;NM_001281293.1	tolerated(1)	possibly_damaging(0.628)	2/2																			MODERATE	1	SNV	1			1											PASS	CCTCTTCTGCA	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			True	Unknown	C	3	2	62	200408328	200408328	T	C	1	0	0	0	0	1	0	0	0	18394	1792	62	4		4	ZNF281	1	200408328	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08	85678060	200408328	48548094	2	909											
LMOD3	56203	BI	GRCh38	chr3	69119216	69119216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaccattctgggacccGgaagctcaaaatggtagccc	10	13	2	1	rs765223466	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.1139C>T	p.Pro380Leu	p.P380L	ENST00000420581	2/3	83	73	10	91			LMOD3,missense_variant,p.P380L,ENST00000420581,NM_198271.3,c.1139C>T,MODERATE,YES,deleterious(0),probably_damaging(0.989),-1;LMOD3,missense_variant,p.P380L,ENST00000475434,,c.1139C>T,MODERATE,,deleterious(0),probably_damaging(0.989),-1;LMOD3,missense_variant,p.P380L,ENST00000489031,NM_001304418.1,c.1139C>T,MODERATE,,deleterious(0),probably_damaging(0.989),-1	A	ENST00000420581	Transcript	missense_variant	missense_variant	1319/4086	1139/1683	380/560	P/L	cCg/cTg	rs765223466	1		-1	LMOD3	HGNC	HGNC:6649	protein_coding	YES	CCDS46862.1	ENSP00000414670	Q0VAK6		UPI00001612AC	NM_198271.3	deleterious(0)	probably_damaging(0.989)	2/3		Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1	1.655e-05	1.656e-05	0	0	0	0	2.997e-05	0	0		PASS	GACCCGGAAGC	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			True	Unknown	A	3	1	62	69119216	69119216	G	A	1	0	0	0	0	1	0	0	0	8785	1116	39	2		2	LMOD3	3	69119216	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		69119216	129176343	3	910											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	76	39	37	107			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133		COSM28758	True	Unknown	G	3	3	62	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-A87T-01A-11D-A39W-08		77794572	60600145	4	911											
CYP2C8	1558	BI	GRCh38	chr10	95038938	95038938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcacttttcttaaagttgCcattcttatctagaaagtgg	7	7	4	1	novel		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.1250G>A	p.Gly417Asp	p.G417D	ENST00000371270	8/9	80	75	5	90			CYP2C8,missense_variant,p.G347D,ENST00000539050,NM_001198855.1,c.1040G>A,MODERATE,,deleterious(0),possibly_damaging(0.886),-1;CYP2C8,missense_variant,p.G347D,ENST00000623108,NM_001198853.1,c.1040G>A,MODERATE,,deleterious(0),possibly_damaging(0.886),-1;CYP2C8,missense_variant,p.G417D,ENST00000371270,NM_000770.3,c.1250G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.886),-1;CYP2C8,missense_variant,p.G315D,ENST00000535898,NM_001198854.1,c.944G>A,MODERATE,,deleterious(0),possibly_damaging(0.886),-1;CYP2C8,downstream_gene_variant,,ENST00000628935,,,MODIFIER,,,,-1;CYP2C8,3_prime_UTR_variant,,ENST00000490994,,c.*1036G>A,MODIFIER,,,,-1;CYP2C8,3_prime_UTR_variant,,ENST00000527420,,c.*107G>A,MODIFIER,,,,-1;CYP2C8,3_prime_UTR_variant,,ENST00000525991,,c.*825G>A,MODIFIER,,,,-1;CYP2C8,non_coding_transcript_exon_variant,,ENST00000527953,,n.1544G>A,MODIFIER,,,,-1;CYP2C8,non_coding_transcript_exon_variant,,ENST00000526814,,n.1505G>A,MODIFIER,,,,-1;CYP2C8,non_coding_transcript_exon_variant,,ENST00000533320,,n.1484G>A,MODIFIER,,,,-1;CYP2C8,non_coding_transcript_exon_variant,,ENST00000531714,,n.438G>A,MODIFIER,,,,-1;CYP2C8,downstream_gene_variant,,ENST00000479946,,,MODIFIER,,,,-1	T	ENST00000371270	Transcript	missense_variant	missense_variant	1345/1923	1250/1473	417/490	G/D	gGc/gAc		1		-1	CYP2C8	HGNC	HGNC:2622	protein_coding	YES	CCDS7438.1	ENSP00000360317	P10632		UPI0000128256	NM_000770.3	deleterious(0)	possibly_damaging(0.886)	8/9		Pfam_domain:PF00067;Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1											PASS	AGTTGCCATTC	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			True	Unknown	T	3	4	62	95038938	95038938	C	T	1	0	0	0	0	1	0	0	0	3970	739	26	3		3	CYP2C8	10	95038938	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		95038938	38758484	5	912											
IQSEC3	440073	BI	GRCh38	chr12	157580	157580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagcagttccacaaccccGacaccatcttcatcctcgcc	4	19	3	0			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.2329G>A	p.Asp777Asn	p.D777N	ENST00000538872	7/14	102	68	34	76			IQSEC3,missense_variant,p.D777N,ENST00000538872,NM_001170738.1,c.2329G>A,MODERATE,YES,deleterious(0),probably_damaging(0.989),1;IQSEC3,missense_variant,p.D474N,ENST00000382841,NM_015232.1,c.1420G>A,MODERATE,,deleterious(0.02),benign(0.436),1	A	ENST00000538872	Transcript	missense_variant	missense_variant	2447/7094	2329/3549	777/1182	D/N	Gac/Aac		1		1	IQSEC3	HGNC	HGNC:29193	protein_coding	YES	CCDS53728.1	ENSP00000437554	Q9UPP2		UPI0000DBEEF0	NM_001170738.1	deleterious(0)	probably_damaging(0.989)	7/14		Pfam_domain:PF01369;PROSITE_profiles:PS50190;SMART_domains:SM00222;Superfamily_domains:SSF48425																	MODERATE	1	SNV	5			1											PASS	ACCCCGACACC	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133		COSM1733213;COSM1733214	True	Unknown	A	3	1	62	157580	157580	G	A	1	0	0	0	0	1	0	0	0	7725	1058	37	2		2	IQSEC3	12	157580	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		157580	133117729	6	913											
PSG1	5669	BI	GRCh38	chr19	42878248	42878248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatcgtgacttgggcagtgGtgggcaggttccagaagttt	15	7	0	2	rs200054291		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.95C>T	p.Thr32Ile	p.T32I	ENST00000436291	2/6	193	71	122	187			PSG1,missense_variant,p.T32I,ENST00000244296,NM_006905.2,c.95C>T,MODERATE,,deleterious(0.01),benign(0.044),-1;PSG1,missense_variant,p.T32I,ENST00000436291,NM_001184825.1,c.95C>T,MODERATE,,deleterious(0.01),benign(0.011),-1;PSG1,missense_variant,p.T32I,ENST00000595356,NM_001184826.1,c.95C>T,MODERATE,,deleterious(0.01),benign(0.027),-1;PSG1,missense_variant,p.T32I,ENST00000312439,NM_001297773.1,c.95C>T,MODERATE,YES,deleterious(0.01),benign(0.044),-1;PSG1,missense_variant,p.T32I,ENST00000403380,,c.95C>T,MODERATE,,tolerated(0.07),benign(0.233),-1;PSG1,missense_variant,p.T32I,ENST00000595124,,c.95C>T,MODERATE,,tolerated(0.07),benign(0.014),-1;PSG1,5_prime_UTR_variant,,ENST00000595930,,c.-119C>T,MODIFIER,,,,-1;PSG1,upstream_gene_variant,,ENST00000597058,,,MODIFIER,,,,-1;PSG1,non_coding_transcript_exon_variant,,ENST00000601073,,n.336C>T,MODIFIER,,,,-1;PSG1,non_coding_transcript_exon_variant,,ENST00000601456,,n.194C>T,MODIFIER,,,,-1	A	ENST00000436291	Transcript	missense_variant	missense_variant	212/2047	95/1260	32/419	T/I	aCc/aTc	rs200054291	1		-1	PSG1	HGNC	HGNC:9514	protein_coding		CCDS54275.1	ENSP00000413041	P11464		UPI000013279D	NM_001184825.1	deleterious(0.01)	benign(0.011)	2/6		Cleavage_site_(Signalp):Sigp																	MODERATE		SNV	1			1											PASS	CAGTGGTGGGC	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			True	Unknown	A	3	1	62	42878248	42878248	G	A	1	0	0	0	0	1	0	0	0	12804	1261	44	3		3	PSG1	19	42878248	Missense_Mutation	SNP	G	TCGA-WC-A87T-01A-11D-A39W-08		42878248	15739368	7	914											
OSBPL2	9885	BI	GRCh38	chr20	62293808	62293808	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gttctacccaggcaataaccCctacactgggacccccgact	7	17	1	0	novel		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.1364C>G	p.Pro455Arg	p.P455R	ENST00000313733	14/14	68	41	27	70			OSBPL2,missense_variant,p.P455R,ENST00000313733,NM_144498.2,c.1364C>G,MODERATE,YES,deleterious(0.01),probably_damaging(0.991),1;OSBPL2,missense_variant,p.P443R,ENST00000358053,NM_014835.3,c.1328C>G,MODERATE,,deleterious(0.01),probably_damaging(0.972),1;OSBPL2,missense_variant,p.P322A,ENST00000439951,NM_001278649.1,c.964C>G,MODERATE,,tolerated_low_confidence(0.12),unknown(0),1;OSBPL2,non_coding_transcript_exon_variant,,ENST00000471817,,n.256C>G,MODIFIER,,,,1	G	ENST00000313733	Transcript	missense_variant	missense_variant	1605/4009	1364/1443	455/480	P/R	cCc/cGc		1		1	OSBPL2	HGNC	HGNC:15761	protein_coding	YES	CCDS13495.1	ENSP00000316649	Q9H1P3		UPI0000130E96	NM_144498.2	deleterious(0.01)	probably_damaging(0.991)	14/14		Pfam_domain:PF01237;Superfamily_domains:SSF144000																	MODERATE	1	SNV	1			1											PASS	TAACCCCTACA	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133			True	Unknown	G	3	3	62	62293808	62293808	C	G	1	0	0	0	0	1	0	0	0	11344	623	22	5		5	OSBPL2	20	62293808	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		62293808	2150359	8	915											
FLNA	2316	BI	GRCh38	chrX	154368070	154368070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggatcagcttcaggttccCgtccacgatggccttgctgt	11	13	2	0	novel		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	c.394G>A	p.Gly132Arg	p.G132R	ENST00000369850	3/48	75	4	71	82			FLNA,missense_variant,p.G132R,ENST00000422373,NM_001456.3,c.394G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;FLNA,missense_variant,p.G132R,ENST00000369850,NM_001110556.1,c.394G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;FLNA,missense_variant,p.G132R,ENST00000360319,,c.394G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;FLNA,missense_variant,p.G105R,ENST00000369856,,c.313G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;FLNA,missense_variant,p.G132R,ENST00000344736,,c.394G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;FLNA,missense_variant,p.G105R,ENST00000610817,,c.313G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;FLNA,missense_variant,p.G118R,ENST00000420627,,c.352G>A,MODERATE,,deleterious(0.05),probably_damaging(1),-1;FLNA,upstream_gene_variant,,ENST00000465144,,,MODIFIER,,,,-1	T	ENST00000369850	Transcript	missense_variant	missense_variant	631/8382	394/7944	132/2647	G/R	Ggg/Agg		1		-1	FLNA	HGNC	HGNC:3754	protein_coding	YES	CCDS48194.1	ENSP00000358866	P21333		UPI000013C596	NM_001110556.1	deleterious(0)	probably_damaging(0.999)	3/48		Pfam_domain:PF00307;PROSITE_profiles:PS50021;SMART_domains:SM00033;Superfamily_domains:SSF47576																	MODERATE	1	SNV	1			1											panel_of_normals	GTTCCCGTCCA	66bba43c-9d5b-45fe-91a4-6982a5c6c7fc	58dc9321-1649-4884-a25b-a64c613cf428	5b256403-7759-47b4-b745-fa4dfe691fa1	3eb7aded-8887-4c27-a464-1b50ec090133	gdc_pon		True	Unknown	T	3	4	62	154368070	154368070	C	T	1	0	0	0	0	1	0	0	0	5789	652	23	2		2	FLNA	23	154368070	Missense_Mutation	SNP	C	TCGA-WC-A87T-01A-11D-A39W-08		154368070	1672825	9	916											
UBR4	23352	BI	GRCh38	chr1	19165739	19165739	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggagacattcctccagGatggattcatccagtccact	8	12	1	1	rs143052374	byCluster	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.4128C>T	p.=	p.I1376I	ENST00000375254	30/106	46	29	17	63			UBR4,synonymous_variant,p.I1376I,ENST00000375254,NM_020765.2,c.4128C>T,LOW,YES,,,-1;UBR4,synonymous_variant,p.I86I,ENST00000417040,,c.258C>T,LOW,,,,-1;UBR4,non_coding_transcript_exon_variant,,ENST00000419533,,n.1776C>T,MODIFIER,,,,-1	A	ENST00000375254	Transcript	synonymous_variant	synonymous_variant	4156/15906	4128/15552	1376/5183	I	atC/atT	rs143052374	1		-1	UBR4	HGNC	HGNC:30313	protein_coding	YES	CCDS189.1	ENSP00000364403	Q5T4S7		UPI000021276F	NM_020765.2			30/106		Superfamily_domains:SSF48371								9e-04	0								LOW	1	SNV	1			1	0.000173	0.0001734	0.001734	0.0001733	0	0	1.501e-05	0	0		PASS	TCCAGGATGGA	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a	common_in_exac		True	Unknown	A	2	1	63	19165739	19165739	G	A	1	0	0	0	0	0	0	0	1	17428	1164	41	3		3	UBR4	1	19165739	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		19165739	229790683	1	917											
NBEAL2	23218	BI	GRCh38	chr3	47000254	47000254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttactccagccagccaGcccggcactccttcgccact	6	20	1	0	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.4155G>A	p.=	p.Q1385Q	ENST00000450053	27/54	28	11	17	70			NBEAL2,synonymous_variant,p.Q1385Q,ENST00000450053,NM_015175.2,c.4155G>A,LOW,YES,,,1;NBEAL2,synonymous_variant,p.Q673Q,ENST00000416683,,c.2018G>A,LOW,,,,1;NBEAL2,upstream_gene_variant,,ENST00000443829,,,MODIFIER,,,,1;NBEAL2,upstream_gene_variant,,ENST00000486870,,,MODIFIER,,,,1;NBEAL2,upstream_gene_variant,,ENST00000475689,,,MODIFIER,,,,1;NBEAL2,upstream_gene_variant,,ENST00000441027,,,MODIFIER,,,,1	A	ENST00000450053	Transcript	synonymous_variant	synonymous_variant	4334/8827	4155/8265	1385/2754	Q	caG/caA		1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2			27/54																			LOW	1	SNV	2			1											PASS	AGCCAGCCCGG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	A	2	1	63	47000254	47000254	G	A	1	0	0	0	0	0	0	0	1	10200	962	34	3		3	NBEAL2	3	47000254	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		47000254	151295305	2	918											
GPR87	53836	BI	GRCh38	chr3	151294943	151294943	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taccaaggtccaaatcctgcAtcatggactattcgaaatgg	8	10	1	0	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.303T>G	p.Asp101Glu	p.D101E	ENST00000260843	3/3	51	31	20	102			GPR87,missense_variant,p.D101E,ENST00000260843,NM_023915.3,c.303T>G,MODERATE,YES,deleterious(0.05),possibly_damaging(0.873),-1;MED12L,intron_variant,,ENST00000474524,NM_053002.4,c.2146-55116A>C,MODIFIER,YES,,,1;MED12L,intron_variant,,ENST00000273432,,c.1726-55116A>C,MODIFIER,,,,1;MED12L,intron_variant,,ENST00000480026,,c.194-41564A>C,MODIFIER,,,,1;MED12L,intron_variant,,ENST00000491549,,n.73+53075A>C,MODIFIER,,,,1;GPR87,non_coding_transcript_exon_variant,,ENST00000629077,,n.342T>G,MODIFIER,,,,-1	C	ENST00000260843	Transcript	missense_variant	missense_variant	768/1608	303/1077	101/358	D/E	gaT/gaG		1		-1	GPR87	HGNC	HGNC:4538	protein_coding	YES	CCDS3157.1	ENSP00000260843	Q9BY21		UPI000003C9FF	NM_023915.3	deleterious(0.05)	possibly_damaging(0.873)	3/3		Pfam_domain:PF00001;Prints_domain:PR01157;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	CCTGCATCATG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	C	3	2	63	151294943	151294943	A	C	1	0	0	0	0	1	0	0	0	6597	214	8	5		5	GPR87	3	151294943	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08	104294689	151294943	47000616	3	919											
TP63	8626	BI	GRCh38	chr3	189864330	189864330	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagggagctgttatccgCgccatgcctgtctacaaaaa	9	13	2	0	rs61732782	byCluster;byFrequency	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.678C>T	p.=	p.R226R	ENST00000264731	5/14	53	28	25	139			TP63,synonymous_variant,p.R226R,ENST00000264731,NM_003722.4,c.678C>T,LOW,YES,,,1;TP63,synonymous_variant,p.R132R,ENST00000354600,NM_001114980.1,c.396C>T,LOW,,,,1;TP63,synonymous_variant,p.R226R,ENST00000418709,NM_001114979.1,c.678C>T,LOW,,,,1;TP63,synonymous_variant,p.R132R,ENST00000437221,NM_001114982.1,c.396C>T,LOW,,,,1;TP63,synonymous_variant,p.R226R,ENST00000320472,,c.678C>T,LOW,,,,1;TP63,synonymous_variant,p.R226R,ENST00000440651,,c.678C>T,LOW,,,,1;TP63,synonymous_variant,p.R132R,ENST00000456148,,c.396C>T,LOW,,,,1;TP63,synonymous_variant,p.R226R,ENST00000392460,NM_001114978.1,c.678C>T,LOW,,,,1;TP63,synonymous_variant,p.R47R,ENST00000449992,,c.141C>T,LOW,,,,1;TP63,synonymous_variant,p.R132R,ENST00000392463,NM_001114981.1,c.396C>T,LOW,,,,1;TP63,synonymous_variant,p.R132R,ENST00000392461,,c.396C>T,LOW,,,,1;TP63,downstream_gene_variant,,ENST00000434928,,,MODIFIER,,,,1;TP63,non_coding_transcript_exon_variant,,ENST00000460036,,n.502C>T,MODIFIER,,,,1	T	ENST00000264731	Transcript	synonymous_variant	synonymous_variant	767/4909	678/2043	226/680	R	cgC/cgT	rs61732782	1		1	TP63	HGNC	HGNC:15979	protein_coding	YES	CCDS3293.1	ENSP00000264731	Q9H3D4		UPI0000073CF2	NM_003722.4			5/14		Pfam_domain:PF00870;Prints_domain:PR00386;Superfamily_domains:SSF49417								5e-04	6e-04								LOW	1	SNV	1			1	0.0001812	0.0001812	9.61e-05	0.0001728	0	0	0.0002847	0	0		panel_of_normals	ATCCGCGCCAT	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a	gdc_pon		True	Unknown	T	2	4	63	189864330	189864330	C	T	1	0	0	0	0	0	0	0	1	16871	755	27	2		2	TP63	3	189864330	Silent	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	38569387	189864330	8431229	4	920											
SLC12A7	10723	BI	GRCh38	chr5	1060348	1060348	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacggcccccacgtacctctCgctcctgctcgttcttggac	8	19	2	0	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.2843G>T	p.Arg948Leu	p.R948L	ENST00000264930	21/24	63	38	25	124			SLC12A7,missense_variant,p.R948L,ENST00000264930,NM_006598.2,c.2843G>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.828),-1;SLC12A7,missense_variant,p.R306L,ENST00000513223,,c.915G>T,MODERATE,,tolerated(0.08),possibly_damaging(0.806),-1;MIR4635,downstream_gene_variant,,ENST00000583759,,,MODIFIER,YES,,,-1;SLC12A7,non_coding_transcript_exon_variant,,ENST00000514994,,n.143G>T,MODIFIER,,,,-1	A	ENST00000264930	Transcript	missense_variant	missense_variant	2887/5280	2843/3252	948/1083	R/L	cGa/cTa		1		-1	SLC12A7	HGNC	HGNC:10915	protein_coding	YES	CCDS34129.1	ENSP00000264930	Q9Y666		UPI0000141815	NM_006598.2	deleterious(0.04)	possibly_damaging(0.828)	21/24		Coiled-coils_(Ncoils):ncoils;TIGRFAM_domain:TIGR00930																	MODERATE	1	SNV	1			1											panel_of_normals	CCTCTCGCTCC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a	gdc_pon		True	Unknown	A	3	1	63	1060348	1060348	C	A	1	0	0	0	0	1	0	0	0	14653	898	31	5		5	SLC12A7	5	1060348	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		1060348	180477911	5	921											
FKBP9	11328	BI	GRCh38	chr7	32988633	32988633	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcccgcctcacctgggGtatggagaggaaggaagagg	18	8	1	2	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1020G>A	p.=	p.G340G	ENST00000242209	6/10	33	18	15	46			FKBP9,synonymous_variant,p.G393G,ENST00000538336,NM_001284341.1,c.1179G>A,LOW,YES,,,1;FKBP9,synonymous_variant,p.G340G,ENST00000242209,NM_007270.4,c.1020G>A,LOW,,,,1;FKBP9,synonymous_variant,p.G108G,ENST00000490776,NM_001284343.1,c.324G>A,LOW,,,,1;FKBP9,synonymous_variant,p.G108G,ENST00000418354,,c.324G>A,LOW,,,,1;FKBP9,non_coding_transcript_exon_variant,,ENST00000489038,,n.409G>A,MODIFIER,,,,1;FKBP9,non_coding_transcript_exon_variant,,ENST00000472007,,n.594G>A,MODIFIER,,,,1;FKBP9,non_coding_transcript_exon_variant,,ENST00000463443,,n.243G>A,MODIFIER,,,,1;FKBP9,non_coding_transcript_exon_variant,,ENST00000494374,,n.1156G>A,MODIFIER,,,,1;FKBP9,non_coding_transcript_exon_variant,,ENST00000468510,,n.48G>A,MODIFIER,,,,1	A	ENST00000242209	Transcript	synonymous_variant	synonymous_variant	1189/3462	1020/1713	340/570	G	ggG/ggA		1		1	FKBP9	HGNC	HGNC:3725	protein_coding		CCDS5439.1	ENSP00000242209	O95302		UPI00001B6B0A	NM_007270.4			6/10		Pfam_domain:PF00254;PROSITE_profiles:PS50059;Superfamily_domains:SSF54534																	LOW		SNV	1			1											PASS	CTGGGGTATGG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	A	2	1	63	32988633	32988633	G	A	1	0	0	0	0	0	0	0	1	5778	1248	44	3		3	FKBP9	7	32988633	Silent	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		32988633	126357340	6	922											
SLC26A5	375611	BI	GRCh38	chr7	103410488	103410488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcggtggtaaacccaCggaccagaggctctgtgaga	14	11	1	2	rs773574721		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.632G>A	p.Arg211His	p.R211H	ENST00000306312	7/20	23	12	11	62			SLC26A5,missense_variant,p.R211H,ENST00000306312,NM_198999.2,c.632G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.917),-1;SLC26A5,missense_variant,p.R211H,ENST00000354356,,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.917),-1;SLC26A5,missense_variant,p.R211H,ENST00000432958,NM_001167962.1,c.632G>A,MODERATE,,deleterious(0),probably_damaging(0.973),-1;SLC26A5,missense_variant,p.R211H,ENST00000393730,,c.632G>A,MODERATE,,deleterious(0),probably_damaging(0.973),-1;SLC26A5,missense_variant,p.R211H,ENST00000339444,NM_206883.2,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.954),-1;SLC26A5,missense_variant,p.R174H,ENST00000393729,,c.521G>A,MODERATE,,deleterious(0),possibly_damaging(0.886),-1;SLC26A5,missense_variant,p.R211H,ENST00000393727,,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.917),-1;SLC26A5,missense_variant,p.R211H,ENST00000393723,,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.973),-1;SLC26A5,missense_variant,p.R211H,ENST00000393735,NM_206884.2,c.632G>A,MODERATE,,deleterious(0.03),probably_damaging(0.928),-1;SLC26A5,missense_variant,p.R211H,ENST00000356767,NM_206885.2,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.941),-1;SLC26A5,missense_variant,p.R211H,ENST00000423416,,c.632G>A,MODERATE,,deleterious(0),probably_damaging(0.944),-1;SLC26A5,missense_variant,p.R174H,ENST00000456463,,c.521G>A,MODERATE,,deleterious(0.01),probably_damaging(0.987),-1;SLC26A5,missense_variant,p.R211H,ENST00000445809,,c.632G>A,MODERATE,,deleterious(0.01),probably_damaging(0.969),-1;SLC26A5,missense_variant,p.R211H,ENST00000454864,,c.632G>A,MODERATE,,deleterious(0),probably_damaging(0.944),-1;SLC26A5,non_coding_transcript_exon_variant,,ENST00000487407,,n.783G>A,MODIFIER,,,,-1	T	ENST00000306312	Transcript	missense_variant	missense_variant	894/2689	632/2235	211/744	R/H	cGt/cAt	rs773574721	1		-1	SLC26A5	HGNC	HGNC:9359	protein_coding	YES	CCDS5733.1	ENSP00000304783	P58743		UPI0000132195	NM_198999.2	deleterious(0.01)	probably_damaging(0.917)	7/20		Transmembrane_helices:Tmhmm;Pfam_domain:PF00916;TIGRFAM_domain:TIGR00815																	MODERATE	1	SNV	1			1	8.237e-06	8.3e-06	0	0	0.0001171	0	0	0	0		PASS	ACCCACGGACC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	T	3	4	63	103410488	103410488	C	T	1	0	0	0	0	1	0	0	0	14790	536	19	1		1	SLC26A5	7	103410488	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	70421855	103410488	55935485	7	923											
PPP1R3A	5506	BI	GRCh38	chr7	113879435	113879435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttactagctccaatccctgCcacacttattttagggttac	6	12	0	0	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1657G>A	p.Ala553Thr	p.A553T	ENST00000284601	4/4	61	39	22	135			PPP1R3A,missense_variant,p.A553T,ENST00000284601,NM_002711.3,c.1657G>A,MODERATE,YES,tolerated(0.27),benign(0.002),-1;PPP1R3A,downstream_gene_variant,,ENST00000449795,,,MODIFIER,,,,-1;PPP1R3A,downstream_gene_variant,,ENST00000284602,,,MODIFIER,,,,-1	T	ENST00000284601	Transcript	missense_variant	missense_variant	1726/4384	1657/3369	553/1122	A/T	Gca/Aca		1		-1	PPP1R3A	HGNC	HGNC:9291	protein_coding	YES	CCDS5759.1	ENSP00000284601	Q16821		UPI000013DDAA	NM_002711.3	tolerated(0.27)	benign(0.002)	4/4																			MODERATE	1	SNV	1			1											PASS	CCCTGCCACAC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	T	3	4	63	113879435	113879435	C	T	1	0	0	0	0	1	0	0	0	12492	739	26	3		3	PPP1R3A	7	113879435	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	10468947	113879435	45466538	8	924											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	88	46	42	144			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a		COSM28758	True	Unknown	G	3	3	63	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-A87U-01A-11D-A39W-08		77794572	60600145	9	925											
SLC2A8	29988	BI	GRCh38	chr9	127407229	127407229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactctggaacaaatcacaGcccattttgaggggcgatga	11	9	2	3	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1414G>A	p.Ala472Thr	p.A472T	ENST00000373371	10/10	57	30	27	97			SLC2A8,missense_variant,p.A472T,ENST00000373371,NM_014580.4,c.1414G>A,MODERATE,YES,tolerated(0.09),possibly_damaging(0.574),1;SLC2A8,missense_variant,p.A309T,ENST00000610552,NM_001271712.1,c.925G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.574),1;SLC2A8,missense_variant,p.A209T,ENST00000373352,,c.625G>A,MODERATE,,tolerated(0.18),possibly_damaging(0.574),1;SLC2A8,3_prime_UTR_variant,,ENST00000373360,NM_001271711.1,c.*32G>A,MODIFIER,,,,1;SLC2A8,intron_variant,,ENST00000430147,,c.814-207G>A,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000451404,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000423934,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000439597,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000419917,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000419132,,,MODIFIER,,,,1;SLC2A8,intron_variant,,ENST00000477027,,n.366-207G>A,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000485806,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000489239,,,MODIFIER,,,,1;SLC2A8,downstream_gene_variant,,ENST00000484617,,,MODIFIER,,,,1;SLC2A8,upstream_gene_variant,,ENST00000484208,,,MODIFIER,,,,1	A	ENST00000373371	Transcript	missense_variant	missense_variant	1503/2172	1414/1434	472/477	A/T	Gcc/Acc		1		1	SLC2A8	HGNC	HGNC:13812	protein_coding	YES	CCDS6870.1	ENSP00000362469	Q9NY64	A0A024R871	UPI000003E7A8	NM_014580.4	tolerated(0.09)	possibly_damaging(0.574)	10/10		Pfam_domain:PF00083																	MODERATE	1	SNV	1			1											PASS	TCACAGCCCAT	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	A	3	1	63	127407229	127407229	G	A	1	0	0	0	0	1	0	0	0	14821	971	34	3		3	SLC2A8	9	127407229	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	49612657	127407229	10987488	10	926											
SETX	23064	BI	GRCh38	chr9	132288559	132288559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtacttactcattctgtGgtttacttggctgtccaaac	7	10	3	0	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.6199C>T	p.His2067Tyr	p.H2067Y	ENST00000224140	16/26	31	12	19	106			SETX,missense_variant,p.H2067Y,ENST00000224140,NM_015046.5,c.6199C>T,MODERATE,YES,tolerated(0.05),probably_damaging(1),-1;SETX,missense_variant,p.H309Y,ENST00000436441,,c.925C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.805),-1;SETX,upstream_gene_variant,,ENST00000474172,,,MODIFIER,,,,-1	A	ENST00000224140	Transcript	missense_variant	missense_variant	6382/11100	6199/8034	2067/2677	H/Y	Cac/Tac		1		-1	SETX	HGNC	HGNC:445	protein_coding	YES	CCDS6947.1	ENSP00000224140	Q7Z333		UPI0000210D28	NM_015046.5	tolerated(0.05)	probably_damaging(1)	16/26		Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	TCTGTGGTTTA	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	A	3	1	63	132288559	132288559	G	A	1	0	0	0	0	1	0	0	0	14420	1348	47	3		3	SETX	9	132288559	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	4881330	132288559	6106158	11	927											
KCNK13	56659	BI	GRCh38	chr14	90184974	90184974	+	Missense_Mutation	SNP	A	A	T													cctttgcaatcatgaacaacAggttggcagagaccagtggg					novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1198A>T	p.Arg400Trp	p.R400W	ENST00000282146	2/2	19	17	2	32			KCNK13,missense_variant,p.R400W,ENST00000282146,NM_022054.3,c.1198A>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),1	T	ENST00000282146	Transcript	missense_variant	missense_variant	1639/2522	1198/1227	400/408	R/W	Agg/Tgg		1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3	deleterious(0)	probably_damaging(0.996)	2/2																			MODERATE	1	SNV	1			1											PASS	ACAACAGGTTG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			False	Unknown	T	3	4	63	90184974	90184974	A	T	1	0	0	0	0	1	0	0	0	7978	179	7	5		5	KCNK13	14	90184974	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08		90184974	16858744	12	928	13	2									
KCNK13	56659	BI	GRCh38	chr14	90184975	90184975	+	Missense_Mutation	SNP	G	G	T													ctttgcaatcatgaacaacaGgttggcagagaccagtgggg					novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1199G>T	p.Arg400Met	p.R400M	ENST00000282146	2/2	19	17	2	32			KCNK13,missense_variant,p.R400M,ENST00000282146,NM_022054.3,c.1199G>T,MODERATE,YES,tolerated(0.05),probably_damaging(0.966),1	T	ENST00000282146	Transcript	missense_variant	missense_variant	1640/2522	1199/1227	400/408	R/M	aGg/aTg		1		1	KCNK13	HGNC	HGNC:6275	protein_coding	YES	CCDS9889.1	ENSP00000282146	Q9HB14		UPI0000127A55	NM_022054.3	tolerated(0.05)	probably_damaging(0.966)	2/2																			MODERATE	1	SNV	1			1											PASS	CAACAGGTTGG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			False	Unknown	T	3	4	63	90184975	90184975	G	T	1	0	0	0	0	1	0	0	0	7978	1000	35	5		5	KCNK13	14	90184975	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08	1	90184975	16858743	13	929	13	2									
PLD2	5338	BI	GRCh38	chr17	4819482	4819482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgggacagtgagctgGccgtgctgatcgaggacaca	17	9	0	2	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.2362G>A	p.Ala788Thr	p.A788T	ENST00000263088	23/25	14	5	9	28			PLD2,missense_variant,p.A788T,ENST00000263088,NM_002663.4,c.2362G>A,MODERATE,YES,deleterious(0),probably_damaging(0.968),1;PLD2,missense_variant,p.A788T,ENST00000572940,NM_001243108.1,c.2362G>A,MODERATE,,deleterious(0),probably_damaging(0.92),1;PLD2,missense_variant,p.A86T,ENST00000576864,,c.254G>A,MODERATE,,deleterious(0),probably_damaging(0.991),1;PLD2,missense_variant,p.A186T,ENST00000576983,,c.556G>A,MODERATE,,deleterious(0),probably_damaging(0.991),1;PLD2,downstream_gene_variant,,ENST00000575246,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000571273,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000574796,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000572127,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000572199,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000575813,,,MODIFIER,,,,1;PLD2,upstream_gene_variant,,ENST00000575945,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000576329,,,MODIFIER,,,,1;PLD2,downstream_gene_variant,,ENST00000573258,,,MODIFIER,,,,1	A	ENST00000263088	Transcript	missense_variant	missense_variant	2493/3503	2362/2802	788/933	A/T	Gcc/Acc		1		1	PLD2	HGNC	HGNC:9068	protein_coding	YES	CCDS11057.1	ENSP00000263088	O14939		UPI0000131BDE	NM_002663.4	deleterious(0)	probably_damaging(0.968)	23/25		Superfamily_domains:SSF56024;PIRSF_domain:PIRSF009376																	MODERATE	1	SNV	1			1											PASS	AGCTGGCCGTG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	A	3	1	63	4819482	4819482	G	A	1	0	0	0	0	1	0	0	0	12140	1203	42	3		3	PLD2	17	4819482	Missense_Mutation	SNP	G	TCGA-WC-A87U-01A-11D-A39W-08		4819482	78437959	14	930											
DHRS7B	25979	BI	GRCh38	chr17	21188790	21188790	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgaaattgaggtgacCgtcatcagccccggctacat	10	11	2	3	rs577733383	byCluster;byFrequency	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.699C>T	p.=	p.T233T	ENST00000395511	6/7	80	44	36	134			DHRS7B,synonymous_variant,p.T233T,ENST00000395511,NM_015510.4,c.699C>T,LOW,YES,,,1;DHRS7B,synonymous_variant,p.T218T,ENST00000579303,,c.654C>T,LOW,,,,1;DHRS7B,synonymous_variant,p.T53T,ENST00000581463,,c.159C>T,LOW,,,,1;DHRS7B,intron_variant,,ENST00000583388,,c.171-2158C>T,MODIFIER,,,,1;DHRS7B,3_prime_UTR_variant,,ENST00000578426,,c.*316C>T,MODIFIER,,,,1;DHRS7B,non_coding_transcript_exon_variant,,ENST00000346603,,n.1023C>T,MODIFIER,,,,1	T	ENST00000395511	Transcript	synonymous_variant	synonymous_variant	1019/2175	699/978	233/325	T	acC/acT	rs577733383	1		1	DHRS7B	HGNC	HGNC:24547	protein_coding	YES	CCDS11215.1	ENSP00000378887	Q6IAN0		UPI00000739CB	NM_015510.4			6/7		Pfam_domain:PF08643;Prints_domain:PR00081;Superfamily_domains:SSF51735																	LOW	1	SNV	1			1	2.471e-05	2.473e-05	0	0	0	0	0	0	0.0001818		PASS	GTGACCGTCAT	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	T	2	4	63	21188790	21188790	C	T	1	0	0	0	0	0	0	0	1	4300	639	23	2		2	DHRS7B	17	21188790	Silent	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	16369308	21188790	62068651	15	931											
CEP95	90799	BI	GRCh38	chr17	64534595	64534595	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttagcaagacttcaAggactgcattcgtaggcaaa	8	10	2	1	rs185494775	by1000G;byCluster	TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1928A>C	p.Lys643Thr	p.K643T	ENST00000556440	17/20	28	18	10	62			CEP95,missense_variant,p.K643T,ENST00000556440,NM_138363.1,c.1928A>C,MODERATE,YES,deleterious(0),possibly_damaging(0.736),1;CEP95,missense_variant,p.K578T,ENST00000553412,,c.1733A>C,MODERATE,,deleterious(0),possibly_damaging(0.856),1;CEP95,upstream_gene_variant,,ENST00000583676,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000583457,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000577476,,,MODIFIER,,,,1;CEP95,3_prime_UTR_variant,,ENST00000553956,,c.*1651A>C,MODIFIER,,,,1;CEP95,non_coding_transcript_exon_variant,,ENST00000581885,,n.580A>C,MODIFIER,,,,1;CEP95,non_coding_transcript_exon_variant,,ENST00000580285,,n.107A>C,MODIFIER,,,,1;CEP95,non_coding_transcript_exon_variant,,ENST00000582698,,n.394A>C,MODIFIER,,,,1;CEP95,upstream_gene_variant,,ENST00000581980,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000579117,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000584857,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000579478,,,MODIFIER,,,,1;CEP95,downstream_gene_variant,,ENST00000579637,,,MODIFIER,,,,1	C	ENST00000556440	Transcript	missense_variant	missense_variant	2438/3139	1928/2466	643/821	K/T	aAg/aCg	rs185494775	1		1	CEP95	HGNC	HGNC:25141	protein_coding	YES	CCDS45763.1	ENSP00000450461	Q96GE4		UPI000006F4B3	NM_138363.1	deleterious(0)	possibly_damaging(0.736)	17/20																			MODERATE	1	SNV	1			1	8.275e-06	8.32e-06	0	0	0.0001166	0	0	0	0		PASS	CTTCAAGGACT	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	C	3	2	63	64534595	64534595	A	C	1	0	0	0	0	1	0	0	0	2988	72	3	5		5	CEP95	17	64534595	Missense_Mutation	SNP	A	TCGA-WC-A87U-01A-11D-A39W-08	43345805	64534595	18722846	16	932											
ASXL3	80816	BI	GRCh38	chr18	33743366	33743366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcctagcaacaagtctgCccacctccgggagaccacca	7	17	2	1	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.3518C>T	p.Ala1173Val	p.A1173V	ENST00000269197	12/12	24	13	11	46			ASXL3,missense_variant,p.A1173V,ENST00000269197,NM_030632.1,c.3518C>T,MODERATE,YES,,benign(0.005),1;ASXL3,3_prime_UTR_variant,,ENST00000592288,,c.*2642C>T,MODIFIER,,,,1	T	ENST00000269197	Transcript	missense_variant	missense_variant	3518/11344	3518/6747	1173/2248	A/V	gCc/gTc		1		1	ASXL3	HGNC	HGNC:29357	protein_coding	YES	CCDS45847.1	ENSP00000269197	Q9C0F0		UPI000156D0F3	NM_030632.1		benign(0.005)	12/12																			MODERATE	1	SNV	5			1											PASS	GTCTGCCCACC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			True	Unknown	T	3	4	63	33743366	33743366	C	T	1	0	0	0	0	1	0	0	0	1216	739	26	3		3	ASXL3	18	33743366	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		33743366	46629919	17	933											
EEF2	1938	BI	GRCh38	chr19	3983121	3983121	+	Frame_Shift_Del	DEL	T	T	-													actgcttacctgacacgcagTccaccaccaccaatgcgcca					novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.389delA	p.Asp130AlafsTer26	p.D130Afs*26	ENST00000309311	3/15	49	46	3	96			EEF2,frameshift_variant,p.D130Afs*26,ENST00000309311,NM_001961.3,c.389delA,HIGH,YES,,,-1;EEF2,upstream_gene_variant,,ENST00000600794,,,MODIFIER,,,,-1;SNORD37,upstream_gene_variant,,ENST00000384048,,,MODIFIER,YES,,,-1;EEF2,downstream_gene_variant,,ENST00000600720,,,MODIFIER,,,,-1;EEF2,upstream_gene_variant,,ENST00000598182,,,MODIFIER,,,,-1;EEF2,downstream_gene_variant,,ENST00000594885,,,MODIFIER,,,,-1;EEF2,upstream_gene_variant,,ENST00000598436,,,MODIFIER,,,,-1;EEF2,upstream_gene_variant,,ENST00000596417,,,MODIFIER,,,,-1	-	ENST00000309311	Transcript	frameshift_variant	frameshift_variant	478/3164	389/2577	130/858	D/X	gAc/gc		1		-1	EEF2	HGNC	HGNC:3214	protein_coding	YES	CCDS12117.1	ENSP00000307940	P13639		UPI00001649F3	NM_001961.3			3/15		Low_complexity_(Seg):Seg;Pfam_domain:PF00009;TIGRFAM_domain:TIGR00231;Superfamily_domains:SSF52540																	HIGH	1	deletion	5			1											PASS	ACGCAGTCCACC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			False	Unknown	-	7	5	63	3983121	3983121	T	-	1	0	1	0	1	0	0	0	0	4759	1667	58	0		0	EEF2	19	3983121	Frame_Shift_Del	DEL	T	TCGA-WC-A87U-01A-11D-A39W-08		3983121	54634495	18	934											
CCDC155	147872	BI	GRCh38	chr19	49409756	49409756	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacttctgtcccagaaaCaggaagtggcaactgctgat	9	10	1	2	novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.1150C>T	p.Gln384Ter	p.Q384*	ENST00000447857	15/20	37	34	3	58			CCDC155,stop_gained,p.Q384*,ENST00000447857,NM_144688.4,c.1150C>T,HIGH,YES,,,1;CCDC155,splice_region_variant,,ENST00000600570,,c.1037-3C>T,LOW,,,,1;CCDC155,non_coding_transcript_exon_variant,,ENST00000593362,,n.192C>T,MODIFIER,,,,1;CCDC155,non_coding_transcript_exon_variant,,ENST00000596419,,n.346C>T,MODIFIER,,,,1;CCDC155,downstream_gene_variant,,ENST00000596130,,,MODIFIER,,,,1	T	ENST00000447857	Transcript	stop_gained	stop_gained	1355/2378	1150/1689	384/562	Q/*	Cag/Tag		1		1	CCDC155	HGNC	HGNC:26520	protein_coding	YES	CCDS46140.1	ENSP00000404220	Q8N6L0			NM_144688.4			15/20																			HIGH	1	SNV	1			1											PASS	AGAAACAGGAA	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			False	Unknown	T	4	4	63	49409756	49409756	C	T	1	0	0	0	0	0	1	0	0	2476	492	17	3		3	CCDC155	19	49409756	Nonsense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08	45426635	49409756	9207860	19	935											
EIF1AX	1964	BI	GRCh38	chrX	20138595	20138595	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	4	13	4	1			TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.44G>A	p.Gly15Asp	p.G15D	ENST00000379607	2/7	13	0	13	110			EIF1AX,missense_variant,p.G15D,ENST00000379607,NM_001412.3,c.44G>A,MODERATE,YES,deleterious(0),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2754G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant	248/4427	44/435	15/144	G/D	gGt/gAt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0)	unknown(0)	2/7		Low_complexity_(Seg):Seg;TIGRFAM_domain:TIGR00523;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	TCTTACCCCTG	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a		COSM3973544	True	Unknown	T	3	4	63	20138595	20138595	C	T	1	0	0	0	0	1	0	0	0	4828	507	18	3		3	EIF1AX	23	20138595	Missense_Mutation	SNP	C	TCGA-WC-A87U-01A-11D-A39W-08		20138595	135902300	20	936											
FAM3A	60343	BI	GRCh38	chrX	154512850	154512851	+	In_Frame_Ins	INS	-	-	GCCACT													agttgctggatgcgaggaaaINSgccactgccaggcccaccca					novel		TCGA-WC-A87U-01A-11D-A39W-08	TCGA-WC-A87U-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	78dac82e-48e6-44ae-9035-141deebe52b9	f817a8e1-3381-49dd-a7d9-5fb92e91ff54	c.94_99dupAGTGGC	p.Ser32_Gly33dup	p.S32_G33dup	ENST00000359889	3/10	14	13	1	60			FAM3A,inframe_insertion,p.Q13_W14dup,ENST00000322269,NM_001282311.1,c.38_43dupAGTGGC,MODERATE,YES,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000447601,NM_021806.3,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000419205,NM_001171134.2,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000359889,NM_001171132.2&NM_001282312.1,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000369643,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000369641,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000426266,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,intron_variant,,ENST00000393572,NM_001171133.2,c.14-985_14-980dupAGTGGC,MODIFIER,,,,-1;FAM3A,intron_variant,,ENST00000442929,,c.14-985_14-980dupAGTGGC,MODIFIER,,,,-1;WI2-89031B12.1,downstream_gene_variant,,ENST00000567614,,,MODIFIER,YES,,,-1;FAM3A,non_coding_transcript_exon_variant,,ENST00000492763,,n.487_492dupAGTGGC,MODIFIER,,,,-1;FAM3A,intron_variant,,ENST00000497506,,n.400-985_400-980dupAGTGGC,MODIFIER,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000621967,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000434658,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000416319,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000449971,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000457212,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000421517,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000433619,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,inframe_insertion,p.S32_G33dup,ENST00000440318,,c.94_99dupAGTGGC,MODERATE,,,,-1;FAM3A,intron_variant,,ENST00000412894,,c.14-985_14-980dupAGTGGC,MODIFIER,,,,-1;FAM3A,upstream_gene_variant,,ENST00000612856,,,MODIFIER,,,,-1	GCCACT	ENST00000359889	Transcript	inframe_insertion	inframe_insertion	466-467/1712	99-100/693	33-34/230	-/SG	-/AGTGGC		1		-1	FAM3A	HGNC	HGNC:13749	protein_coding		CCDS35453.1	ENSP00000352955	P98173		UPI0000169ECD	NM_001171132.2;NM_001282312.1			3/10																			MODERATE		insertion	2			1											PASS	AGGAAAGCCAC	988a0c07-02e8-48ea-a8c2-45c134063644	19a1ef7a-0f0a-490d-9286-e6f8a6441833	2a6193b7-321f-4dbb-bf7a-ba79581c0803	4498044c-1607-403e-867e-befd7fad275a			False	Unknown	GCCACT	7	5	63	154512850	154512850	-	GCCACT	1	0	1	1	0	0	0	0	0	5436	72	3	0		0	FAM3A	23	154512850	In_Frame_Ins	INS	-	TCGA-WC-A87U-01A-11D-A39W-08	134374255	154512850	1528045	21	937											
SCN11A	11280	BI	GRCh38	chr3	38897036	38897036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgtcgggcctgtcgGgttacagagttttggactct	14	8	1	2	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.2212C>A	p.Pro738Thr	p.P738T	ENST00000302328	14/26	51	31	20	50			SCN11A,missense_variant,p.P738T,ENST00000302328,NM_001287223.1&NM_014139.2,c.2212C>A,MODERATE,YES,tolerated(0.41),benign(0.011),-1;SCN11A,missense_variant,p.P738T,ENST00000444237,,c.2212C>A,MODERATE,,tolerated(0.45),benign(0.014),-1;SCN11A,missense_variant,p.P738T,ENST00000456224,,c.2212C>A,MODERATE,,tolerated(0.25),benign(0.006),-1	T	ENST00000302328	Transcript	missense_variant	missense_variant	2411/6500	2212/5376	738/1791	P/T	Ccg/Acg		1		-1	SCN11A	HGNC	HGNC:10583	protein_coding	YES	CCDS33737.1	ENSP00000307599	Q9UI33		UPI000006CCD7	NM_001287223.1;NM_014139.2	tolerated(0.41)	benign(0.011)	14/26		Pfam_domain:PF00520;Superfamily_domains:SSF81324																	MODERATE	1	SNV	5			1											PASS	TGTCGGGTTAC	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	T	3	4	64	38897036	38897036	G	T	1	0	0	0	0	1	0	0	0	14182	1232	43	5		5	SCN11A	3	38897036	Missense_Mutation	SNP	G	TCGA-WC-A87W-01A-11D-A39W-08		38897036	159398523	1	938											
NBEAL2	23218	BI	GRCh38	chr3	46991945	46991945	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcggctcattcagaacagcaAggtgggtagggcccagcctg	14	11	2	1	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.1031A>T	p.Lys344Met	p.K344M	ENST00000450053	9/54	9	4	5	13			NBEAL2,missense_variant,p.K344M,ENST00000450053,NM_015175.2,c.1031A>T,MODERATE,YES,deleterious(0),possibly_damaging(0.886),1;NBEAL2,upstream_gene_variant,,ENST00000416683,,,MODIFIER,,,,1	T	ENST00000450053	Transcript	missense_variant	missense_variant;splice_region_variant	1210/8827	1031/8265	344/2754	K/M	aAg/aTg		1		1	NBEAL2	HGNC	HGNC:31928	protein_coding	YES	CCDS46817.1	ENSP00000415034	Q6ZNJ1		UPI000022C020	NM_015175.2	deleterious(0)	possibly_damaging(0.886)	9/54		Superfamily_domains:SSF48371																	MODERATE	1	SNV	2			1											PASS	CAGCAAGGTGG	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	T	3	4	64	46991945	46991945	A	T	1	0	0	0	0	1	0	0	0	10200	86	3	5		5	NBEAL2	3	46991945	Missense_Mutation	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08	8094909	46991945	151303614	2	939											
PTPRG	5793	BI	GRCh38	chr3	61562368	61562380	+	Splice_Site	DEL	CCCCGGTGAGTGC	CCCCGGTGAGTGC	-													ctccattatgtcgtgtgcttCcccggtgagtgccggccgcc					novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.82_85+9delCCCGGTGAGTGCC		p.X28_splice	ENST00000474889	1/30	164	147	17	199			PTPRG,splice_donor_variant,p.X28_splice,ENST00000474889,NM_002841.3,c.82_85+9delCCCGGTGAGTGCC,HIGH,YES,,,1;PTPRG,splice_donor_variant,p.X28_splice,ENST00000295874,,c.82_85+9delCCCGGTGAGTGCC,HIGH,,,,1;PTPRG,splice_donor_variant,,ENST00000495879,,n.801_804+9delCCCGGTGAGTGCC,HIGH,,,,1;PTPRG,splice_donor_variant,,ENST00000475527,,n.519_522+9delCCCGGTGAGTGCC,HIGH,,,,1	-	ENST00000474889	Transcript	splice_donor_variant	splice_donor_variant;coding_sequence_variant;intron_variant	458-?/9021	81-?/4338	27-?/1445				1		1	PTPRG	HGNC	HGNC:9671	protein_coding	YES	CCDS2895.1	ENSP00000418112	P23470		UPI00001AEBFB	NM_002841.3			1/30	1/29																		HIGH	1	deletion	1	1		1											PASS	GTGCTTCCCCGGTGAGTGCCGGCC	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	-	8	5	64	61562368	61562368	CCCCGGTGAGTGC	-	1	0	1	0	1	0	0	1	0	12956	869	30	0		0	PTPRG	3	61562368	Splice_Site	DEL	CCCCGGTGAGTGC	TCGA-WC-A87W-01A-11D-A39W-08	14570423	61562368	136733191	3	940											
IGSF11	152404	BI	GRCh38	chr3	119105178	119105178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaccagagcaaaagTtccaccagagacatttattc	6	12	0	2	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.15A>G	p.=	p.E5E	ENST00000425327	2/8	31	17	14	36			IGSF11,synonymous_variant,p.E5E,ENST00000425327,NM_152538.2,c.15A>G,LOW,,,,-1;IGSF11,synonymous_variant,p.E5E,ENST00000354673,,c.15A>G,LOW,,,,-1;IGSF11,synonymous_variant,p.E5E,ENST00000441144,,c.15A>G,LOW,,,,-1;IGSF11,non_coding_transcript_exon_variant,,ENST00000494802,,n.314A>G,MODIFIER,,,,-1	C	ENST00000425327	Transcript	synonymous_variant	synonymous_variant	284/3525	15/1293	5/430	E	gaA/gaG		1		-1	IGSF11	HGNC	HGNC:16669	protein_coding		CCDS2983.1	ENSP00000406092	Q5DX21		UPI0000140923	NM_152538.2			2/8		Cleavage_site_(Signalp):Sigp																	LOW		SNV	2			1											PASS	AAAAGTTCCAC	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	C	2	2	64	119105178	119105178	T	C	1	0	0	0	0	0	0	0	1	7505	1722	60	4		4	IGSF11	3	119105178	Silent	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08	57542810	119105178	79190381	4	941											
KIAA1549	57670	BI	GRCh38	chr7	138868085	138868085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcaggacagccgttgaCctggtgtttccggcgaggct	16	11	0	1	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.4819G>A	p.Val1607Ile	p.V1607I	ENST00000422774	15/20	25	16	9	34			KIAA1549,missense_variant,p.V1607I,ENST00000440172,NM_020910.2,c.4819G>A,MODERATE,,tolerated(0.65),probably_damaging(0.998),-1;KIAA1549,missense_variant,p.V1607I,ENST00000422774,NM_001164665.1,c.4819G>A,MODERATE,YES,tolerated(0.65),probably_damaging(0.998),-1	T	ENST00000422774	Transcript	missense_variant	missense_variant	4868/6283	4819/5853	1607/1950	V/I	Gtc/Atc		1		-1	KIAA1549	HGNC	HGNC:22219	protein_coding	YES	CCDS56513.1	ENSP00000416040	Q9HCM3		UPI0001837EBD	NM_001164665.1	tolerated(0.65)	probably_damaging(0.998)	15/20																			MODERATE	1	SNV	1			1											PASS	GTTGACCTGGT	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	T	3	4	64	138868085	138868085	C	T	1	0	0	0	0	1	0	0	0	8120	507	18	3		3	KIAA1549	7	138868085	Missense_Mutation	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08		138868085	20477888	5	942											
EPC1	80314	BI	GRCh38	chr10	32273251	32273251	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagtgccagttgctgtTgatgttgctggtattgttcg	14	6	0	2	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.1775A>T	p.Gln592Leu	p.Q592L	ENST00000263062	11/15	47	44	3	48			EPC1,missense_variant,p.Q592L,ENST00000319778,NM_001272019.2&NM_001272004.1,c.1775A>T,MODERATE,,deleterious(0),probably_damaging(0.993),-1;EPC1,missense_variant,p.Q542L,ENST00000375110,NM_001282391.1,c.1625A>T,MODERATE,,deleterious(0),probably_damaging(0.995),-1;EPC1,missense_variant,p.Q592L,ENST00000263062,NM_025209.3,c.1775A>T,MODERATE,YES,deleterious(0),probably_damaging(0.954),-1;RP11-166N17.1,downstream_gene_variant,,ENST00000415731,,,MODIFIER,YES,,,1;RP11-166N17.1,downstream_gene_variant,,ENST00000628416,,,MODIFIER,,,,1;EPC1,non_coding_transcript_exon_variant,,ENST00000479380,,n.703A>T,MODIFIER,,,,-1;EPC1,upstream_gene_variant,,ENST00000492710,,,MODIFIER,,,,-1;EPC1,upstream_gene_variant,,ENST00000476533,,,MODIFIER,,,,-1	A	ENST00000263062	Transcript	missense_variant	missense_variant	2045/2913	1775/2511	592/836	Q/L	cAa/cTa		1		-1	EPC1	HGNC	HGNC:19876	protein_coding	YES	CCDS7172.1	ENSP00000263062	Q9H2F5		UPI000006F77F	NM_025209.3	deleterious(0)	probably_damaging(0.954)	11/15		Low_complexity_(Seg):Seg;Pfam_domain:PF06752;PROSITE_profiles:PS50322																	MODERATE	1	SNV	1			1											PASS	GCTGTTGATGT	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			False	Unknown	A	3	1	64	32273251	32273251	T	A	1	0	0	0	0	1	0	0	0	5006	1812	63	5		5	EPC1	10	32273251	Missense_Mutation	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08		32273251	101524171	6	943											
TRPM7	54822	BI	GRCh38	chr15	50574717	50574717	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctgctctctgttgttgaatTtcctataaaagggagggtgg	13	6	1	1	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.5022A>T	p.Glu1674Asp	p.E1674D	ENST00000313478	35/39	73	48	25	88			TRPM7,missense_variant,p.E1674D,ENST00000313478,NM_017672.4,c.5022A>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;TRPM7,missense_variant,p.E1673D,ENST00000560955,NM_001301212.1,c.5019A>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;TRPM7,missense_variant,p.E54D,ENST00000561267,,c.160A>T,MODERATE,,tolerated(0.25),probably_damaging(0.948),-1;TRPM7,splice_region_variant,,ENST00000561443,,n.579A>T,LOW,,,,-1;TRPM7,downstream_gene_variant,,ENST00000560849,,,MODIFIER,,,,-1;TRPM7,downstream_gene_variant,,ENST00000558444,,,MODIFIER,,,,-1;TRPM7,non_coding_transcript_exon_variant,,ENST00000560516,,n.369A>T,MODIFIER,,,,-1	A	ENST00000313478	Transcript	missense_variant	missense_variant;splice_region_variant	5304/10400	5022/5598	1674/1865	E/D	gaA/gaT		1		-1	TRPM7	HGNC	HGNC:17994	protein_coding	YES	CCDS42035.1	ENSP00000320239	Q96QT4	A0A024R5V1		NM_017672.4	deleterious(0)	probably_damaging(0.997)	35/39		Pfam_domain:PF02816;PROSITE_profiles:PS51158;SMART_domains:SM00811;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1											PASS	TGAATTTCCTA	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	A	3	1	64	50574717	50574717	T	A	1	0	0	0	0	1	0	0	0	17097	1855	64	5		5	TRPM7	15	50574717	Missense_Mutation	SNP	T	TCGA-WC-A87W-01A-11D-A39W-08		50574717	51416472	7	944											
RNF213	57674	BI	GRCh38	chr17	80358309	80358309	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaccctctggaagcgggtCcaaggtgctgtcacccctct	10	16	3	0	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.10884C>T	p.=	p.V3628V	ENST00000582970	37/68	40	27	13	45			RNF213,synonymous_variant,p.V3628V,ENST00000582970,NM_001256071.1,c.10884C>T,LOW,YES,,,1;RNF213,synonymous_variant,p.V3677V,ENST00000508628,,c.11031C>T,LOW,,,,1;CTD-2047H16.4,intron_variant,,ENST00000575034,,n.191-3021G>A,MODIFIER,YES,,,-1;CTD-2047H16.4,intron_variant,,ENST00000572151,,n.191-3494G>A,MODIFIER,,,,-1;CTD-2047H16.4,upstream_gene_variant,,ENST00000613190,,,MODIFIER,,,,-1;RNF213,non_coding_transcript_exon_variant,,ENST00000558116,,n.213C>T,MODIFIER,,,,1;RNF213,non_coding_transcript_exon_variant,,ENST00000560694,,n.140C>T,MODIFIER,,,,1	T	ENST00000582970	Transcript	synonymous_variant	synonymous_variant	11027/21055	10884/15624	3628/5207	V	gtC/gtT		1		1	RNF213	HGNC	HGNC:14539	protein_coding	YES	CCDS58606.1	ENSP00000464087		A0A0A0MTR7	UPI00043788D6	NM_001256071.1			37/68		Superfamily_domains:SSF52540;Superfamily_domains:SSF56770																	LOW	1	SNV	1			1											PASS	CGGGTCCAAGG	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	T	2	4	64	80358309	80358309	C	T	1	0	0	0	0	0	0	0	1	13656	842	30	3		3	RNF213	17	80358309	Silent	SNP	C	TCGA-WC-A87W-01A-11D-A39W-08		80358309	2899132	8	945											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	74	46	28	81			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393		COSM52969	True	Unknown	T	3	4	64	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08		3118944	55498672	9	946											
PPP1R15A	23645	BI	GRCh38	chr19	48874424	48874425	+	Frame_Shift_Ins	INS	-	-	G													atcagccaggagaggacacaINSgaggaggaggaagatgagga					novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.1192dupG	p.Glu398GlyfsTer6	p.E398Gfs*6	ENST00000200453	2/3	87	50	37	121			PPP1R15A,frameshift_variant,p.E398Gfs*6,ENST00000200453,NM_014330.3,c.1192dupG,HIGH,YES,,,1;PPP1R15A,frameshift_variant,p.E37Gfs*6,ENST00000600406,,c.108dupG,HIGH,,,,1	G	ENST00000200453	Transcript	frameshift_variant	frameshift_variant	1460-1461/2378	1191-1192/2025	397-398/674	-/X	-/G		1		1	PPP1R15A	HGNC	HGNC:14375	protein_coding	YES	CCDS12738.1	ENSP00000200453	O75807		UPI000006F652	NM_014330.3			2/3		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50313																	HIGH	1	insertion	1	1		1											PASS	GACACAGAGGA	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	G	7	5	64	48874424	48874424	-	G	1	0	1	1	0	0	0	0	0	12473	175	7	0		0	PPP1R15A	19	48874424	Frame_Shift_Ins	INS	-	TCGA-WC-A87W-01A-11D-A39W-08	45755480	48874424	9743192	10	947											
RBM10	8241	BI	GRCh38	chrX	47179964	47179994	+	Frame_Shift_Del	DEL	CCAACGTGCGCGTCATAAAGGACAAGCAGAC	CCAACGTGCGCGTCATAAAGGACAAGCAGAC	-													ctacgcggtgctgtcctcctCcaacgtgcgcgtcataaagg					novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.991_1021delGTGCGCGTCATAAAGGACAAGCAGACCCAAC	p.Val331Ter	p.V331*	ENST00000377604	10/24	24	18	6	58			RBM10,frameshift_variant,p.V331*,ENST00000377604,NM_005676.4&NM_001204467.1,c.991_1021delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,HIGH,,,,1;RBM10,frameshift_variant,p.V396*,ENST00000329236,NM_001204468.1,c.1186_1216delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,HIGH,YES,,,1;RBM10,frameshift_variant,p.V254*,ENST00000345781,NM_001204466.1,c.760_790delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,HIGH,,,,1;RBM10,frameshift_variant,p.V254*,ENST00000628161,NM_152856.2,c.760_790delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,HIGH,,,,1;RBM10,non_coding_transcript_exon_variant,,ENST00000478410,,n.369_399delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,MODIFIER,,,,1;RBM10,intron_variant,,ENST00000496012,,n.169-1246_169-1216delGTGCGCGTCATAAAGGACAAGCAGACCCAAC,MODIFIER,,,,1	-	ENST00000377604	Transcript	frameshift_variant	frameshift_variant	1728-1758/3747	986-1016/2793	329-339/930	SNVRVIKDKQT/X	tCCAACGTGCGCGTCATAAAGGACAAGCAGACc/tc		1		1	RBM10	HGNC	HGNC:9896	protein_coding		CCDS14274.1	ENSP00000366829	P98175		UPI0000070DF1	NM_005676.4;NM_001204467.1			10/24		PROSITE_profiles:PS50102;SMART_domains:SM00360;Superfamily_domains:SSF54928																	HIGH		deletion	1	5		1											PASS	CCTCCTCCAACGTGCGCGTCATAAAGGACAAGCAGACCCAAC	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			False	Unknown	-	7	5	64	47179964	47179964	CCAACGTGCGCGTCATAAAGGACAAGCAGAC	-	1	0	1	0	1	0	0	0	0	13277	855	30	0		0	RBM10	23	47179964	Frame_Shift_Del	DEL	CCAACGTGCGCGTCATAAAGGACAAGCAGAC	TCGA-WC-A87W-01A-11D-A39W-08		47179964	108860931	11	948											
MAGED1	9500	BI	GRCh38	chrX	51897809	51897809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagaaatttgggattcaActgaaagaaattgacaaaga	9	4	1	5	novel		TCGA-WC-A87W-01A-11D-A39W-08	TCGA-WC-A87W-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	5b97d5cc-c7d2-4d27-87cb-4c5090079458	addacac8-7364-409d-adce-53703cafaea2	c.1581A>G	p.=	p.Q527Q	ENST00000326587	7/13	26	17	9	23			MAGED1,synonymous_variant,p.Q583Q,ENST00000375695,NM_001005333.1,c.1749A>G,LOW,YES,,,1;MAGED1,synonymous_variant,p.Q527Q,ENST00000375722,,c.1581A>G,LOW,,,,1;MAGED1,synonymous_variant,p.Q527Q,ENST00000326587,NM_006986.3,c.1581A>G,LOW,,,,1;MAGED1,synonymous_variant,p.Q527Q,ENST00000375772,NM_001005332.1,c.1581A>G,LOW,,,,1;MAGED1,non_coding_transcript_exon_variant,,ENST00000494718,,n.2129A>G,MODIFIER,,,,1;MAGED1,non_coding_transcript_exon_variant,,ENST00000485420,,n.1708A>G,MODIFIER,,,,1;MAGED1,upstream_gene_variant,,ENST00000473931,,,MODIFIER,,,,1;MAGED1,downstream_gene_variant,,ENST00000470461,,,MODIFIER,,,,1;MAGED1,downstream_gene_variant,,ENST00000482188,,,MODIFIER,,,,1;MAGED1,downstream_gene_variant,,ENST00000482599,,,MODIFIER,,,,1	G	ENST00000326587	Transcript	synonymous_variant	synonymous_variant	1771/2747	1581/2337	527/778	Q	caA/caG		1		1	MAGED1	HGNC	HGNC:6813	protein_coding		CCDS14337.1	ENSP00000325333	Q9Y5V3		UPI000006CD3E	NM_006986.3			7/13		Pfam_domain:PF01454;PROSITE_profiles:PS50838																	LOW		SNV	1			1											PASS	ATTCAACTGAA	91fd7b6c-ff42-4be8-baf4-18374c56386e	99b3815a-1385-4845-85df-2d9733eb2846	be807141-3339-4b58-b2e9-98cc601abfb9	60d7b6cf-d605-4837-9061-612f6bbb7393			True	Unknown	G	2	3	64	51897809	51897809	A	G	1	0	0	0	0	0	0	0	1	9101	40	2	4		4	MAGED1	23	51897809	Silent	SNP	A	TCGA-WC-A87W-01A-11D-A39W-08	4717845	51897809	104143086	12	949											
AHCTF1	25909	BI	GRCh38	chr1	246842770	246842770	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtttctactgattgtgcatCatctttctatgggttaaaca	7	7	4	1	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.6559G>A	p.Asp2187Asn	p.D2187N	ENST00000326225	35/36	75	49	26	114			AHCTF1,missense_variant,p.D2213N,ENST00000366508,,c.6637G>A,MODERATE,,tolerated(0.09),benign(0.081),-1;AHCTF1,missense_variant,p.D2187N,ENST00000326225,NM_015446.4,c.6559G>A,MODERATE,YES,tolerated(0.09),benign(0.081),-1;AHCTF1,intron_variant,,ENST00000470300,,n.5140+1025G>A,MODIFIER,,,,-1;AHCTF1,stop_retained_variant,p.*81*,ENST00000498601,,c.242G>A,LOW,,,,-1	T	ENST00000326225	Transcript	missense_variant	missense_variant	6656/8633	6559/6828	2187/2275	D/N	Gat/Aat		1		-1	AHCTF1	HGNC	HGNC:24618	protein_coding	YES	CCDS1629.2	ENSP00000355465	Q8WYP5		UPI0000204034	NM_015446.4	tolerated(0.09)	benign(0.081)	35/36																			MODERATE	1	SNV	1			1											PASS	TGCATCATCTT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	T	3	4	65	246842770	246842770	C	T	1	0	0	0	0	1	0	0	0	485	826	29	3		3	AHCTF1	1	246842770	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		246842770	2113652	1	950											
SNTG2	54221	BI	GRCh38	chr2	1259375	1259375	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcaggtgagCacattcgattgggtgcgagc	13	9	2	1	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.1011C>T	p.=	p.S337S	ENST00000308624	13/17	49	41	8	48			SNTG2,synonymous_variant,p.S337S,ENST00000308624,NM_018968.3,c.1011C>T,LOW,YES,,,1;SNTG2,synonymous_variant,p.S210S,ENST00000407292,,c.630C>T,LOW,,,,1;SNTG2,upstream_gene_variant,,ENST00000471239,,,MODIFIER,,,,1;SNTG2,downstream_gene_variant,,ENST00000489646,,,MODIFIER,,,,1	T	ENST00000308624	Transcript	synonymous_variant	synonymous_variant	1140/1888	1011/1620	337/539	S	agC/agT		1		1	SNTG2	HGNC	HGNC:13741	protein_coding	YES	CCDS46220.1	ENSP00000311837	Q9NY99		UPI0000456D73	NM_018968.3			13/17		Superfamily_domains:SSF50729																	LOW	1	SNV	1			1											PASS	GTGAGCACATT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	T	2	4	65	1259375	1259375	C	T	1	0	0	0	0	0	0	0	1	15195	724	25	3		3	SNTG2	2	1259375	Silent	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		1259375	240934154	2	951											
GATS	352954	BI	GRCh38	chr7	100271928	100271944	+	Frame_Shift_Del	DEL	GTGCTCCAGGATGTGGA	GTGCTCCAGGATGTGGA	-													acgctggcaacttgcagccgGtgctccaggatgtggagttc					novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.40_56delTCCACATCCTGGAGCAC	p.Ser14ArgfsTer38	p.S14Rfs*38	ENST00000328453	1/8	22	18	4	36			GATS,frameshift_variant,p.S14Rfs*38,ENST00000436886,NM_178831.6,c.40_56delTCCACATCCTGGAGCAC,HIGH,YES,,,-1;GATS,frameshift_variant,p.S14Rfs*38,ENST00000454084,,c.40_56delTCCACATCCTGGAGCAC,HIGH,,,,-1;GATS,frameshift_variant,p.S14Rfs*38,ENST00000328453,,c.40_56delTCCACATCCTGGAGCAC,HIGH,,,,-1;GATS,frameshift_variant,p.S14Rfs*38,ENST00000543273,,c.40_56delTCCACATCCTGGAGCAC,HIGH,,,,-1;GATS,frameshift_variant,p.S14Rfs*38,ENST00000414739,,c.40_56delTCCACATCCTGGAGCAC,HIGH,,,,-1;GATS,frameshift_variant,p.S14Rfs*38,ENST00000435519,,c.40_56delTCCACATCCTGGAGCAC,HIGH,,,,-1	-	ENST00000328453	Transcript	frameshift_variant	frameshift_variant;NMD_transcript_variant	263-279/3526	40-56/492	14-19/163	STSWST/X	TCCACATCCTGGAGCACc/c		1		-1	GATS	HGNC	HGNC:29954	nonsense_mediated_decay		CCDS43621.1	ENSP00000482429	Q8NAP1		UPI0000071079				1/8																			HIGH		deletion	1			1											PASS	CAGCCGGTGCTCCAGGATGTGGAGTTCC	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			False	Unknown	-	7	5	65	100271928	100271928	GTGCTCCAGGATGTGGA	-	1	0	1	0	1	0	0	0	0	6135	1261	44	0		0	GATS	7	100271928	Frame_Shift_Del	DEL	GTGCTCCAGGATGTGGA	TCGA-WC-A87Y-01A-11D-A39W-08		100271928	59074045	3	952											
PRRG4	79056	BI	GRCh38	chr11	32836725	32836725	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtataatagatttgatctGgagctcttcactcccggcaa	8	10	3	2	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.171G>A	p.=	p.L57L	ENST00000257836	3/6	46	32	14	57			PRRG4,synonymous_variant,p.L57L,ENST00000257836,NM_024081.5,c.171G>A,LOW,YES,,,1	A	ENST00000257836	Transcript	synonymous_variant	synonymous_variant	424/5530	171/681	57/226	L	ctG/ctA		1		1	PRRG4	HGNC	HGNC:30799	protein_coding	YES	CCDS7881.1	ENSP00000257836	Q9BZD6		UPI000013707A	NM_024081.5			3/6		Pfam_domain:PF00594;Prints_domain:PR00001;PROSITE_profiles:PS50998;SMART_domains:SM00069;Superfamily_domains:SSF57630																	LOW	1	SNV	1			1											PASS	GATCTGGAGCT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	A	2	1	65	32836725	32836725	G	A	1	0	0	0	0	0	0	0	1	12754	1335	47	3		3	PRRG4	11	32836725	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		32836725	102249897	4	953											
UNC13C	440279	BI	GRCh38	chr15	54014553	54014553	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctaaacttagtcgttctgaAtcagatttttccaaattgtg	7	7	2	2	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.1650A>T	p.Glu550Asp	p.E550D	ENST00000260323	1/32	46	43	3	32			UNC13C,missense_variant,p.E550D,ENST00000260323,NM_001080534.1,c.1650A>T,MODERATE,YES,tolerated_low_confidence(0.09),benign(0.015),1	T	ENST00000260323	Transcript	missense_variant	missense_variant	1650/12946	1650/6645	550/2214	E/D	gaA/gaT		1		1	UNC13C	HGNC	HGNC:23149	protein_coding	YES	CCDS45264.1	ENSP00000260323	Q8NB66		UPI0000DD82AB	NM_001080534.1	tolerated_low_confidence(0.09)	benign(0.015)	1/32																			MODERATE	1	SNV	5			1											PASS	TCTGAATCAGA	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			False	Unknown	T	3	4	65	54014553	54014553	A	T	1	0	0	0	0	1	0	0	0	17510	98	4	5		5	UNC13C	15	54014553	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		54014553	47976636	5	954											
ANXA2	302	BI	GRCh38	chr15	60355986	60355986	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgtccttctccagaTcagtcttgtacacttggagg	8	9	3	1	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.461A>T	p.Asp154Val	p.D154V	ENST00000396024	8/14	41	20	21	50			ANXA2,missense_variant,p.D154V,ENST00000396024,NM_001136015.2,c.461A>T,MODERATE,,tolerated(0.06),benign(0.016),-1;ANXA2,missense_variant,p.D172V,ENST00000332680,NM_001002858.2,c.515A>T,MODERATE,YES,tolerated(0.05),benign(0.01),-1;ANXA2,missense_variant,p.D154V,ENST00000421017,NM_001002857.1,c.461A>T,MODERATE,,tolerated(0.06),benign(0.016),-1;ANXA2,missense_variant,p.D154V,ENST00000451270,NM_004039.2,c.461A>T,MODERATE,,tolerated(0.06),benign(0.016),-1;ANXA2,missense_variant,p.D154V,ENST00000559818,,c.461A>T,MODERATE,,deleterious(0.04),benign(0.016),-1;ANXA2,missense_variant,p.D154V,ENST00000557906,,c.461A>T,MODERATE,,deleterious(0.05),benign(0.016),-1;ANXA2,missense_variant,p.D37V,ENST00000558985,,c.110A>T,MODERATE,,tolerated(0.06),benign(0.016),-1;ANXA2,missense_variant,p.D154V,ENST00000560367,,c.461A>T,MODERATE,,deleterious(0.03),benign(0.016),-1;ANXA2,missense_variant,p.D123V,ENST00000559176,,c.367A>T,MODERATE,,deleterious(0),benign(0.075),-1;ANXA2,missense_variant,p.D154V,ENST00000560165,,c.461A>T,MODERATE,,deleterious(0.05),benign(0.016),-1;ANXA2,missense_variant,p.D37V,ENST00000560466,,c.110A>T,MODERATE,,tolerated(0.06),benign(0.016),-1;ANXA2,missense_variant,p.D154V,ENST00000560389,,c.461A>T,MODERATE,,deleterious(0.05),benign(0.016),-1;ANXA2,missense_variant,p.D89V,ENST00000558132,,c.266A>T,MODERATE,,deleterious(0),benign(0.075),-1;ANXA2,missense_variant,p.D37V,ENST00000559113,,c.110A>T,MODERATE,,deleterious(0),benign(0.016),-1;ANXA2,missense_variant,p.D37V,ENST00000559725,,c.110A>T,MODERATE,,deleterious(0),benign(0.016),-1;ANXA2,missense_variant,p.D37V,ENST00000558998,,c.110A>T,MODERATE,,deleterious(0),benign(0.016),-1;ANXA2,downstream_gene_variant,,ENST00000559780,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000559467,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000559350,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000560468,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000558986,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000559956,,,MODIFIER,,,,-1;ANXA2,downstream_gene_variant,,ENST00000558558,,,MODIFIER,,,,-1;ANXA2,missense_variant,p.D154V,ENST00000560014,,c.461A>T,MODERATE,,deleterious(0.03),benign(0.076),-1;ANXA2,3_prime_UTR_variant,,ENST00000561022,,c.*315A>T,MODIFIER,,,,-1;ANXA2,3_prime_UTR_variant,,ENST00000558503,,c.*72A>T,MODIFIER,,,,-1;ANXA2,non_coding_transcript_exon_variant,,ENST00000504475,,n.2799A>T,MODIFIER,,,,-1;ANXA2,non_coding_transcript_exon_variant,,ENST00000559559,,n.518A>T,MODIFIER,,,,-1;ANXA2,upstream_gene_variant,,ENST00000559647,,,MODIFIER,,,,-1	A	ENST00000396024	Transcript	missense_variant	missense_variant	621/1676	461/1020	154/339	D/V	gAt/gTt		1		-1	ANXA2	HGNC	HGNC:537	protein_coding		CCDS10175.1	ENSP00000379342	P07355	A0A024R5Z7	UPI0000161B7A	NM_001136015.2	tolerated(0.06)	benign(0.016)	8/14		Pfam_domain:PF00191;SMART_domains:SM00335;Superfamily_domains:SSF47874																	MODERATE		SNV	1			1											PASS	CCAGATCAGTC	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	A	3	1	65	60355986	60355986	T	A	1	0	0	0	0	1	0	0	0	825	1435	50	5		5	ANXA2	15	60355986	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08	6341433	60355986	41635203	6	955											
ABHD2	11057	BI	GRCh38	chr15	89151693	89151693	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagatacattccaccgttgAtctgggggaaaagtggacac	11	8	1	2	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.211A>G	p.Ile71Val	p.I71V	ENST00000352732	4/11	118	78	40	88			ABHD2,missense_variant,p.I71V,ENST00000352732,NM_152924.4,c.211A>G,MODERATE,YES,deleterious(0.01),benign(0.017),1;ABHD2,missense_variant,p.I71V,ENST00000355100,,c.211A>G,MODERATE,,deleterious(0.01),benign(0.017),1;ABHD2,missense_variant,p.I71V,ENST00000565973,NM_007011.7,c.211A>G,MODERATE,,deleterious(0.01),benign(0.017),1;ABHD2,missense_variant,p.I71V,ENST00000565066,,c.211A>G,MODERATE,,deleterious(0.01),benign(0.017),1;ABHD2,missense_variant,p.I71V,ENST00000569411,,c.211A>G,MODERATE,,deleterious(0.01),benign(0.017),1;ABHD2,non_coding_transcript_exon_variant,,ENST00000562073,,n.35A>G,MODIFIER,,,,1	G	ENST00000352732	Transcript	missense_variant	missense_variant	731/8735	211/1278	71/425	I/V	Atc/Gtc		1		1	ABHD2	HGNC	HGNC:18717	protein_coding	YES	CCDS10348.1	ENSP00000268129	P08910	A0A024RC89	UPI000012E24E	NM_152924.4	deleterious(0.01)	benign(0.017)	4/11		PIRSF_domain:PIRSF005211																	MODERATE	1	SNV	1			1											PASS	CGTTGATCTGG	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	G	3	3	65	89151693	89151693	A	G	1	0	0	0	0	1	0	0	0	92	333	12	4		4	ABHD2	15	89151693	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08	28795707	89151693	12839496	7	956											
RGS11	8786	BI	GRCh38	chr16	271228	271228	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcatgacccagtaggcGtcattgtctgagatccaggg	12	10	3	2	rs370941756	byCluster;byFrequency	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.837C>T	p.=	p.D279D	ENST00000397770	12/17	20	11	9	24			RGS11,synonymous_variant,p.D279D,ENST00000397770,NM_183337.2,c.837C>T,LOW,YES,,,-1;RGS11,synonymous_variant,p.D258D,ENST00000316163,NM_003834.2&NM_001286486.1,c.774C>T,LOW,,,,-1;RGS11,synonymous_variant,p.D268D,ENST00000359740,NM_001286485.1,c.804C>T,LOW,,,,-1;ARHGDIG,intron_variant,,ENST00000435035,,c.169+2223G>A,MODIFIER,,,,1;ARHGDIG,intron_variant,,ENST00000412541,,c.169+2223G>A,MODIFIER,,,,1;AC004754.3,downstream_gene_variant,,ENST00000600536,,,MODIFIER,YES,,,1;ITFG3,downstream_gene_variant,,ENST00000301679,,,MODIFIER,,,,1;ARHGDIG,intron_variant,,ENST00000464609,,n.25-654G>A,MODIFIER,,,,1;RGS11,3_prime_UTR_variant,,ENST00000168869,,c.*343C>T,MODIFIER,,,,-1;RGS11,non_coding_transcript_exon_variant,,ENST00000477143,,n.2777C>T,MODIFIER,,,,-1;RGS11,non_coding_transcript_exon_variant,,ENST00000481672,,n.527C>T,MODIFIER,,,,-1;RGS11,downstream_gene_variant,,ENST00000493449,,,MODIFIER,,,,-1;RGS11,downstream_gene_variant,,ENST00000472466,,,MODIFIER,,,,-1	A	ENST00000397770	Transcript	synonymous_variant	synonymous_variant	855/2390	837/1404	279/467	D	gaC/gaT	rs370941756	1		-1	RGS11	HGNC	HGNC:9993	protein_coding	YES	CCDS42088.1	ENSP00000380876	O94810	Q4TT70	UPI000013382E	NM_183337.2			12/17		SMART_domains:SM00224								0	1e-04								LOW	1	SNV	1			1	0.0001237	0.0001298	0.0003219	8.906e-05	0	0	7.859e-05	0	0.000369		PASS	TAGGCGTCATT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692		COSM5448860	True	Unknown	A	2	1	65	271228	271228	G	A	1	0	0	0	0	0	0	0	1	13465	1136	40	1		1	RGS11	16	271228	Silent	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08		271228	90067117	8	957											
PRR14	78994	BI	GRCh38	chr16	30654856	30654856	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccgagcagtctgggGctgctgagggcactgcgtct	17	11	2	2	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.886G>A	p.Ala296Thr	p.A296T	ENST00000300835	8/12	38	21	17	37			PRR14,missense_variant,p.A296T,ENST00000542965,,c.886G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.53),1;PRR14,missense_variant,p.A296T,ENST00000300835,NM_024031.2,c.886G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.53),1;FBRS,upstream_gene_variant,,ENST00000356166,,,MODIFIER,YES,,,1;PRR14,downstream_gene_variant,,ENST00000568754,,,MODIFIER,,,,1;PRR14,downstream_gene_variant,,ENST00000569864,,,MODIFIER,,,,1;PRR14,non_coding_transcript_exon_variant,,ENST00000571654,,n.36G>A,MODIFIER,,,,1;PRR14,non_coding_transcript_exon_variant,,ENST00000287463,,n.1150G>A,MODIFIER,,,,1;PRR14,non_coding_transcript_exon_variant,,ENST00000564946,,n.1161G>A,MODIFIER,,,,1;PRR14,non_coding_transcript_exon_variant,,ENST00000567322,,n.459G>A,MODIFIER,,,,1;PRR14,upstream_gene_variant,,ENST00000567989,,,MODIFIER,,,,1;PRR14,downstream_gene_variant,,ENST00000563211,,,MODIFIER,,,,1;PRR14,upstream_gene_variant,,ENST00000565977,,,MODIFIER,,,,1;PRR14,downstream_gene_variant,,ENST00000565410,,,MODIFIER,,,,1;PRR14,downstream_gene_variant,,ENST00000563399,,,MODIFIER,,,,1	A	ENST00000300835	Transcript	missense_variant	missense_variant	1197/2198	886/1758	296/585	A/T	Gct/Act		1		1	PRR14	HGNC	HGNC:28458	protein_coding		CCDS10687.1	ENSP00000300835	Q9BWN1	A0A024QZB5	UPI000006F1D0	NM_024031.2	deleterious(0.02)	possibly_damaging(0.53)	8/12		PROSITE_profiles:PS50099																	MODERATE		SNV	1			1											PASS	CTGGGGCTGCT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	A	3	1	65	30654856	30654856	G	A	1	0	0	0	0	1	0	0	0	12721	1203	42	3		3	PRR14	16	30654856	Missense_Mutation	SNP	G	TCGA-WC-A87Y-01A-11D-A39W-08	30383628	30654856	59683489	9	958											
CHST4	10164	BI	GRCh38	chr16	71537215	71537215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggtgctcaaggaggtgCgcttcttcaacctgcagtcc	12	12	3	0			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.538C>T	p.Arg180Cys	p.R180C	ENST00000338482	3/3	28	21	7	57			CHST4,missense_variant,p.R180C,ENST00000338482,NM_005769.2,c.538C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;CHST4,missense_variant,p.R180C,ENST00000539698,NM_001166395.1,c.538C>T,MODERATE,,deleterious(0),probably_damaging(1),1;ZNF19,intron_variant,,ENST00000566202,,c.-190+8987G>A,MODIFIER,,,,-1;ZNF19,intron_variant,,ENST00000564225,,c.-255+9062G>A,MODIFIER,,,,-1;RP11-510M2.5,downstream_gene_variant,,ENST00000568523,,,MODIFIER,YES,,,-1;ZNF19,intron_variant,,ENST00000568446,,n.105+9062G>A,MODIFIER,,,,-1;CHST4,non_coding_transcript_exon_variant,,ENST00000572693,,n.630C>T,MODIFIER,,,,1	T	ENST00000338482	Transcript	missense_variant	missense_variant	881/2412	538/1161	180/386	R/C	Cgc/Tgc		1		1	CHST4	HGNC	HGNC:1972	protein_coding	YES	CCDS10902.1	ENSP00000341206	Q8NCG5		UPI000006F41D	NM_005769.2	deleterious(0)	probably_damaging(1)	3/3		Pfam_domain:PF00685;Superfamily_domains:SSF52540;PIRSF_domain:PIRSF005883																	MODERATE	1	SNV	4			1											PASS	AGGTGCGCTTC	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692		COSM272031	True	Unknown	T	3	4	65	71537215	71537215	C	T	1	0	0	0	0	1	0	0	0	3166	768	27	2		2	CHST4	16	71537215	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08	40882359	71537215	18801130	10	959											
CDYL2	124359	BI	GRCh38	chr16	80685105	80685105	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattttcctttcttgttctTcctcttgtctacaatccttt	2	13	4	0	novel		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.49A>G	p.Lys17Glu	p.K17E	ENST00000570137	2/7	89	85	4	85			CDYL2,missense_variant,p.K17E,ENST00000570137,NM_152342.2,c.49A>G,MODERATE,YES,tolerated(0.06),possibly_damaging(0.745),-1;CDYL2,missense_variant,p.K17E,ENST00000566173,,c.49A>G,MODERATE,,tolerated(0.08),possibly_damaging(0.469),-1;CDYL2,missense_variant,p.K17E,ENST00000563890,,c.49A>G,MODERATE,,tolerated(0.08),possibly_damaging(0.469),-1;CDYL2,missense_variant,p.K17E,ENST00000562812,,c.49A>G,MODERATE,,tolerated(0.08),possibly_damaging(0.469),-1;CDYL2,non_coding_transcript_exon_variant,,ENST00000562753,,n.56A>G,MODIFIER,,,,-1	C	ENST00000570137	Transcript	missense_variant	missense_variant	205/8159	49/1521	17/506	K/E	Aag/Gag		1		-1	CDYL2	HGNC	HGNC:23030	protein_coding	YES	CCDS32493.1	ENSP00000476295	Q8N8U2		UPI00001B2954	NM_152342.2	tolerated(0.06)	possibly_damaging(0.745)	2/7		Pfam_domain:PF00385;PROSITE_profiles:PS50013;SMART_domains:SM00298;Superfamily_domains:SSF54160																	MODERATE	1	SNV	1			1											PASS	GTTCTTCCTCT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			False	Unknown	C	3	2	65	80685105	80685105	T	C	1	0	0	0	0	1	0	0	0	2892	1792	62	4		4	CDYL2	16	80685105	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08	9147890	80685105	9653240	11	960											
MYH4	4622	BI	GRCh38	chr17	10452207	10452207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctgaagtggccccacCggcttcttccagcctctcac	10	17	2	1	rs764056557	byFrequency	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.3472G>A	p.Gly1158Ser	p.G1158S	ENST00000255381	27/40	170	114	56	148			MYH4,missense_variant,p.G1158S,ENST00000255381,NM_017533.2,c.3472G>A,MODERATE,YES,deleterious(0.04),probably_damaging(1),-1;MYHAS,intron_variant,,ENST00000587182,,n.155+45969C>T,MODIFIER,YES,,,1;RP11-799N11.1,intron_variant,,ENST00000399342,,n.206+45930C>T,MODIFIER,YES,,,1;RP11-799N11.1,intron_variant,,ENST00000581304,,n.143+45969C>T,MODIFIER,,,,1	T	ENST00000255381	Transcript	missense_variant	missense_variant	3583/6016	3472/5820	1158/1939	G/S	Ggt/Agt	rs764056557	1		-1	MYH4	HGNC	HGNC:7574	protein_coding	YES	CCDS11154.1	ENSP00000255381	Q9Y623		UPI000013CEAB	NM_017533.2	deleterious(0.04)	probably_damaging(1)	27/40		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF01576;PROSITE_profiles:PS50313																	MODERATE	1	SNV	1			1	1.647e-05	1.651e-05	0	0	0	0	0	0	0.0001211		PASS	CCCACCGGCTT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692		COSM4063819	True	Unknown	T	3	4	65	10452207	10452207	C	T	1	0	0	0	0	1	0	0	0	10037	652	23	2		2	MYH4	17	10452207	Missense_Mutation	SNP	C	TCGA-WC-A87Y-01A-11D-A39W-08		10452207	72805234	12	961											
TNS4	84951	BI	GRCh38	chr17	40488805	40488805	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccctggttcccagagaagaTgaggctctcactgctgcttc	11	13	1	3	rs372464786	byCluster	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.604A>G	p.Ile202Val	p.I202V	ENST00000254051	3/13	79	54	25	79			TNS4,missense_variant,p.I202V,ENST00000254051,NM_032865.5,c.604A>G,MODERATE,YES,tolerated(0.68),benign(0.022),-1	C	ENST00000254051	Transcript	missense_variant	missense_variant	763/4067	604/2148	202/715	I/V	Atc/Gtc	rs372464786	1		-1	TNS4	HGNC	HGNC:24352	protein_coding	YES	CCDS11368.1	ENSP00000254051	Q8IZW8		UPI000013CE0F	NM_032865.5	tolerated(0.68)	benign(0.022)	3/13		PROSITE_profiles:PS50324								0	1e-04								MODERATE	1	SNV	1			1	8.24e-06	8.496e-06	0	0	0	0	1.551e-05	0	0		PASS	GAAGATGAGGC	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692			True	Unknown	C	3	2	65	40488805	40488805	T	C	1	0	0	0	0	1	0	0	0	16819	1464	51	4		4	TNS4	17	40488805	Missense_Mutation	SNP	T	TCGA-WC-A87Y-01A-11D-A39W-08	30036598	40488805	42768636	13	962											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	65	48	17	73			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	a5810a6f-8293-4975-a98d-15dcf77c571d	5d8da7f2-8875-4cdb-8306-20cd4557cc62	00271591-def5-4cb8-926f-0aabebf83b94	3a161c85-2544-4283-a10d-e332c9dd1692		COSM52969	True	Unknown	T	3	4	65	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A87Y-01A-11D-A39W-08		3118944	55498672	14	963											
POLR1B	84172	BI	GRCh38	chr2	112575029	112575029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccggctgaggacatgcCttttactgagagtgggatgg	17	7	0	2	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.2708C>T	p.Pro903Leu	p.P903L	ENST00000263331	15/15	105	64	41	103			POLR1B,missense_variant,p.P941L,ENST00000541869,NM_001282772.1,c.2822C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;POLR1B,missense_variant,p.P692L,ENST00000537335,NM_001282776.1,c.2075C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;POLR1B,missense_variant,p.P903L,ENST00000263331,NM_019014.5,c.2708C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;POLR1B,missense_variant,p.P720L,ENST00000409894,NM_001282774.1,c.2159C>T,MODERATE,,deleterious(0),possibly_damaging(0.851),1;POLR1B,missense_variant,p.P847L,ENST00000417433,NM_001137604.2&NM_001282779.1&NM_001282777.1,c.2540C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;POLR1B,missense_variant,p.P288L,ENST00000458012,,c.863C>T,MODERATE,,,,1;Y_RNA,downstream_gene_variant,,ENST00000384653,,,MODIFIER,YES,,,-1;POLR1B,3_prime_UTR_variant,,ENST00000333990,,c.*2578C>T,MODIFIER,,,,1;POLR1B,3_prime_UTR_variant,,ENST00000448770,,c.*955C>T,MODIFIER,,,,1;POLR1B,downstream_gene_variant,,ENST00000484574,,,MODIFIER,,,,1	T	ENST00000263331	Transcript	missense_variant	missense_variant	3288/4558	2708/3408	903/1135	P/L	cCt/cTt		1		1	POLR1B	HGNC	HGNC:20454	protein_coding		CCDS2097.1	ENSP00000263331	Q9H9Y6		UPI00001B6B03	NM_019014.5	deleterious(0)	probably_damaging(0.999)	15/15		Pfam_domain:PF00562;Superfamily_domains:SSF64484																	MODERATE		SNV	2			1											PASS	CATGCCTTTTA	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	T	3	4	66	112575029	112575029	C	T	1	0	0	0	0	1	0	0	0	12320	681	24	3		3	POLR1B	2	112575029	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		112575029	129618500	1	964											
SPHKAP	80309	BI	GRCh38	chr2	228018872	228018872	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagttcattcctgacgacaTtttctgagcacagggtctga	9	11	3	3	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.1982A>T	p.Asn661Ile	p.N661I	ENST00000392056	7/12	167	84	83	171			SPHKAP,missense_variant,p.N661I,ENST00000392056,NM_001142644.1,c.1982A>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.474),-1;SPHKAP,missense_variant,p.N661I,ENST00000344657,NM_030623.3,c.1982A>T,MODERATE,,deleterious(0.03),possibly_damaging(0.673),-1	A	ENST00000392056	Transcript	missense_variant	missense_variant	2029/6917	1982/5103	661/1700	N/I	aAt/aTt		1		-1	SPHKAP	HGNC	HGNC:30619	protein_coding	YES	CCDS46537.1	ENSP00000375909	Q2M3C7		UPI0000411D7E	NM_001142644.1	deleterious(0.04)	possibly_damaging(0.474)	7/12																			MODERATE	1	SNV	1			1											PASS	CGACATTTTCT	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	A	3	1	66	228018872	228018872	T	A	1	0	0	0	0	1	0	0	0	15399	1493	52	5		5	SPHKAP	2	228018872	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08	115443843	228018872	14174657	2	965											
PLSCR5	389158	BI	GRCh38	chr3	146591822	146591822	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgtgaatttaggcagaaaGgggtcccacttctgcgtaac	11	8	1	2	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.513C>G	p.=	p.P171P	ENST00000443512	5/8	28	18	10	14			PLSCR5,synonymous_variant,p.P171P,ENST00000443512,NM_001085420.1,c.513C>G,LOW,YES,,,-1;PLSCR5,synonymous_variant,p.P171P,ENST00000492200,,c.513C>G,LOW,,,,-1;PLSCR5,synonymous_variant,p.P159P,ENST00000482567,,c.477C>G,LOW,,,,-1;PLSCR5-AS1,downstream_gene_variant,,ENST00000473817,,,MODIFIER,YES,,,1	C	ENST00000443512	Transcript	synonymous_variant	synonymous_variant	1517/1969	513/816	171/271	P	ccC/ccG		1		-1	PLSCR5	HGNC	HGNC:19952	protein_coding	YES	CCDS46931.1	ENSP00000390111	A0PG75		UPI0000425F34	NM_001085420.1			5/8		Pfam_domain:PF03803;Superfamily_domains:SSF54518																	LOW	1	SNV	1			1											PASS	AGAAAGGGGTC	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	C	2	2	66	146591822	146591822	G	C	1	0	0	0	0	0	0	0	1	12220	987	35	5		5	PLSCR5	3	146591822	Silent	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		146591822	51703737	3	966											
MUC4	4585	BI	GRCh38	chr3	195757251	195757251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagtgcagatgccaagcCaatcttggcacttcttgcta	10	11	2	1	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.15064G>A	p.Gly5022Ser	p.G5022S	ENST00000463781	18/25	57	30	27	67			MUC4,missense_variant,p.G5022S,ENST00000463781,NM_018406.6,c.15064G>A,MODERATE,YES,,benign(0.213),-1;MUC4,missense_variant,p.G4970S,ENST00000475231,,c.14908G>A,MODERATE,,,benign(0.004),-1;MUC4,missense_variant,p.G786S,ENST00000346145,NM_004532.5,c.2356G>A,MODERATE,,tolerated(0.16),benign(0.041),-1;MUC4,missense_variant,p.G735S,ENST00000349607,NM_138297.4,c.2203G>A,MODERATE,,tolerated(0.16),benign(0.022),-1;MUC4,missense_variant,p.G5022S,ENST00000478156,,c.15064G>A,MODERATE,,,benign(0.098),-1;MUC4,3_prime_UTR_variant,,ENST00000466475,,c.*1785G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000477756,,c.*1503G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000477086,,c.*1785G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000480843,,c.*1503G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000462323,,c.*1503G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000470451,,c.*1469G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000448861,,c.*2024G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000308466,,c.*1696G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000339251,,c.*1757G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000415455,,c.*1696G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000392407,,c.*1785G>A,MODIFIER,,,,-1;MUC4,intron_variant,,ENST00000479406,,c.*1707+1873G>A,MODIFIER,,,,-1;MUC4,upstream_gene_variant,,ENST00000467235,,,MODIFIER,,,,-1;MUC4,upstream_gene_variant,,ENST00000464234,,,MODIFIER,,,,-1;MUC4,upstream_gene_variant,,ENST00000469992,,,MODIFIER,,,,-1	T	ENST00000463781	Transcript	missense_variant	missense_variant	15524/17110	15064/16239	5022/5412	G/S	Ggc/Agc		1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6		benign(0.213)	18/25																			MODERATE	1	SNV	5			1											PASS	CAAGCCAATCT	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	T	3	4	66	195757251	195757251	C	T	1	0	0	0	0	1	0	0	0	9977	594	21	3		3	MUC4	3	195757251	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08	49165429	195757251	2538308	4	967											
CALD1	800	BI	GRCh38	chr7	134935741	134935741	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaagctccaagaagaCaagcctaccttcaaaaaaga	7	9	1	4	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.1362C>T	p.=	p.D454D	ENST00000361675	6/15	21	11	10	20			CALD1,synonymous_variant,p.D219D,ENST00000393118,NM_033139.3,c.657C>T,LOW,,,,1;CALD1,synonymous_variant,p.D454D,ENST00000361675,NM_033138.3,c.1362C>T,LOW,YES,,,1;CALD1,synonymous_variant,p.D225D,ENST00000422748,NM_033157.3,c.675C>T,LOW,,,,1;CALD1,synonymous_variant,p.D219D,ENST00000495522,,c.657C>T,LOW,,,,1;CALD1,intron_variant,,ENST00000361901,NM_004342.6,c.621+2351C>T,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000424922,NM_033140.3,c.603+2351C>T,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000417172,,c.621+2351C>T,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000436461,,c.621+2351C>T,MODIFIER,,,,1;CALD1,downstream_gene_variant,,ENST00000445569,,,MODIFIER,,,,1;CALD1,downstream_gene_variant,,ENST00000496024,,,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000443197,,c.603+2351C>T,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000482470,,n.850+2351C>T,MODIFIER,,,,1;CALD1,intron_variant,,ENST00000430085,,c.*134+2351C>T,MODIFIER,,,,1	T	ENST00000361675	Transcript	synonymous_variant	synonymous_variant	1591/3612	1362/2382	454/793	D	gaC/gaT		1		1	CALD1	HGNC	HGNC:1441	protein_coding	YES	CCDS5835.1	ENSP00000354826	Q05682		UPI0000140A64	NM_033138.3			6/15		Pfam_domain:PF02029;PROSITE_profiles:PS50313;PROSITE_profiles:PS50318																	LOW	1	SNV	1			1											PASS	GAAGACAAGCC	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	T	2	4	66	134935741	134935741	C	T	1	0	0	0	0	0	0	0	1	2271	477	17	3		3	CALD1	7	134935741	Silent	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		134935741	24410232	5	968											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	110	52	58	77			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2		COSM28757	True	Unknown	A	3	1	66	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-A880-01A-11D-A39W-08		77794572	60600145	6	969											
TRIM68	55128	BI	GRCh38	chr11	4605142	4605142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcctcatgctctggggactgGctgcaggcctcacacattat	11	13	3	0	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.363C>G	p.Ser121Arg	p.S121R	ENST00000300747	2/7	73	48	25	65			TRIM68,missense_variant,p.S121R,ENST00000300747,NM_018073.6,c.363C>G,MODERATE,YES,tolerated(0.94),benign(0.014),-1;TRIM68,missense_variant,p.S121R,ENST00000533021,,c.363C>G,MODERATE,,tolerated(0.57),benign(0.018),-1;TRIM68,intron_variant,,ENST00000526337,,c.-243-1802C>G,MODIFIER,,,,-1;TRIM68,missense_variant,p.S121R,ENST00000531101,,c.363C>G,MODERATE,,tolerated(0.24),benign(0.018),-1;TRIM68,non_coding_transcript_exon_variant,,ENST00000532108,,n.562C>G,MODIFIER,,,,-1;TRIM68,intron_variant,,ENST00000531644,,n.151-1802C>G,MODIFIER,,,,-1;TRIM68,upstream_gene_variant,,ENST00000531717,,,MODIFIER,,,,-1	C	ENST00000300747	Transcript	missense_variant	missense_variant	653/3352	363/1458	121/485	S/R	agC/agG		1		-1	TRIM68	HGNC	HGNC:21161	protein_coding	YES	CCDS31356.1	ENSP00000300747	Q6AZZ1		UPI00001D6F26	NM_018073.6	tolerated(0.94)	benign(0.014)	2/7		Pfam_domain:PF00643;PROSITE_profiles:PS50119;SMART_domains:SM00336;Superfamily_domains:SSF57845																	MODERATE	1	SNV	1			1											PASS	GACTGGCTGCA	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	C	3	2	66	4605142	4605142	G	C	1	0	0	0	0	1	0	0	0	17037	1194	42	5		5	TRIM68	11	4605142	Missense_Mutation	SNP	G	TCGA-WC-A880-01A-11D-A39W-08		4605142	130481480	7	970											
NPAS1	4861	BI	GRCh38	chr19	47039512	47039512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgccactccatggacacAtgatcgtcttccgtctcagc	8	15	2	1	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.910A>T	p.Met304Leu	p.M304L	ENST00000449844	7/11	54	25	29	32			NPAS1,missense_variant,p.M304L,ENST00000602212,,c.910A>T,MODERATE,YES,deleterious(0.02),benign(0.017),1;NPAS1,missense_variant,p.M304L,ENST00000449844,NM_002517.2,c.910A>T,MODERATE,,deleterious(0.02),benign(0.017),1;NPAS1,missense_variant,p.M129L,ENST00000602189,,c.385A>T,MODERATE,,deleterious(0.02),benign(0.037),1;NPAS1,missense_variant,p.M128L,ENST00000439365,,c.382A>T,MODERATE,,deleterious(0.03),benign(0.074),1;NPAS1,missense_variant,p.M128L,ENST00000594670,,c.382A>T,MODERATE,,deleterious(0.04),benign(0.074),1;NPAS1,non_coding_transcript_exon_variant,,ENST00000600352,,n.422A>T,MODIFIER,,,,1;NPAS1,intron_variant,,ENST00000601169,,n.298-932A>T,MODIFIER,,,,1;NPAS1,intron_variant,,ENST00000594257,,c.161-932A>T,MODIFIER,,,,1	T	ENST00000449844	Transcript	missense_variant	missense_variant	1072/2043	910/1773	304/590	M/L	Atg/Ttg		1		1	NPAS1	HGNC	HGNC:7894	protein_coding		CCDS12694.1	ENSP00000405290	Q99742		UPI0000073CD1	NM_002517.2	deleterious(0.02)	benign(0.017)	7/11		SMART_domains:SM00091;Superfamily_domains:SSF55785																	MODERATE		SNV	1			1											PASS	GACACATGATC	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	T	3	4	66	47039512	47039512	A	T	1	0	0	0	0	1	0	0	0	10610	217	8	5		5	NPAS1	19	47039512	Missense_Mutation	SNP	A	TCGA-WC-A880-01A-11D-A39W-08		47039512	11578104	8	971											
TMC2	117532	BI	GRCh38	chr20	2617287	2617287	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatcatgtccctcccacCctcctttgactgcgggccgt	7	19	1	1	novel		TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.2156C>T	p.Pro719Leu	p.P719L	ENST00000358864	16/20	50	34	16	47			TMC2,missense_variant,p.P719L,ENST00000358864,NM_080751.2,c.2156C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;TMC2,non_coding_transcript_exon_variant,,ENST00000496948,,n.1577C>T,MODIFIER,,,,1	T	ENST00000358864	Transcript	missense_variant	missense_variant	2171/3169	2156/2721	719/906	P/L	cCc/cTc		1		1	TMC2	HGNC	HGNC:16527	protein_coding	YES	CCDS13029.2	ENSP00000351732	Q8TDI7		UPI0000246C98	NM_080751.2	deleterious(0)	probably_damaging(1)	16/20																			MODERATE	1	SNV	1			1											PASS	CCCACCCTCCT	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2			True	Unknown	T	3	4	66	2617287	2617287	C	T	1	0	0	0	0	1	0	0	0	16431	623	22	3		3	TMC2	20	2617287	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		2617287	61826880	9	972											
EIF1AX	1964	BI	GRCh38	chrX	20138622	20138622	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtttttacctcctttaCctgatggtttaaaaaaaaga	6	7	1	2			TCGA-WC-A880-01A-11D-A39W-08	TCGA-WC-A880-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	0e3e20e6-94c6-4561-b023-9ebd11545994	0714c842-679d-47ab-85b2-b3f269b2c2ae	c.17G>A	p.Gly6Asp	p.G6D	ENST00000379607	2/7	29	2	27	72			EIF1AX,missense_variant,p.G6D,ENST00000379607,NM_001412.3,c.17G>A,MODERATE,YES,deleterious(0.01),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2781G>A,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	T	ENST00000379607	Transcript	missense_variant	missense_variant;splice_region_variant	221/4427	17/435	6/144	G/D	gGt/gAt		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0.01)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	CTTTACCTGAT	f56bb6e7-73e2-4e28-a7a0-60f4e4317680	6a7108d7-bd17-4a58-9640-c9225431ce4c	7e9ed85c-72a8-40d7-b57a-56b871db32ca	d8e15178-d8c5-4e4e-895c-57ffe5bc80c2		COSM3736694	True	Unknown	T	3	4	66	20138622	20138622	C	T	1	0	0	0	0	1	0	0	0	4828	521	18	3		3	EIF1AX	23	20138622	Missense_Mutation	SNP	C	TCGA-WC-A880-01A-11D-A39W-08		20138622	135902273	10	973											
CELSR2	1952	BI	GRCh38	chr1	109261166	109261166	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgcccatctggagacttcgaGaagccctactgccaggtgac	11	13	1	3	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.4083G>A	p.=	p.E1361E	ENST00000271332	3/34	85	44	41	91			CELSR2,synonymous_variant,p.E1361E,ENST00000271332,NM_001408.2,c.4083G>A,LOW,YES,,,1;CELSR2,upstream_gene_variant,,ENST00000459940,,,MODIFIER,,,,1	A	ENST00000271332	Transcript	synonymous_variant	synonymous_variant	4144/10534	4083/8772	1361/2923	E	gaG/gaA		1		1	CELSR2	HGNC	HGNC:3231	protein_coding	YES	CCDS796.1	ENSP00000271332	Q9HCU4			NM_001408.2			3/34		PROSITE_profiles:PS50026;SMART_domains:SM00181;SMART_domains:SM00179;Superfamily_domains:SSF49899																	LOW	1	SNV	1			1											PASS	TTCGAGAAGCC	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	A	2	1	67	109261166	109261166	G	A	1	0	0	0	0	0	0	0	1	2929	933	33	3		3	CELSR2	1	109261166	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		109261166	139695256	1	974											
ATAD2B	54454	BI	GRCh38	chr2	23823287	23823290	+	Frame_Shift_Del	DEL	GCAT	GCAT	-													tgtcactctggctaatttcaGcatgaggaaacactttttgc					novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.2099_2102delATGC	p.His700LeufsTer12	p.H700Lfs*12	ENST00000238789	16/28	23	10	13	30			ATAD2B,frameshift_variant,p.H700Lfs*12,ENST00000238789,NM_017552.2&NM_001242338.1,c.2099_2102delATGC,HIGH,YES,,,-1;ATAD2B,upstream_gene_variant,,ENST00000381024,,,MODIFIER,,,,-1;ATAD2B,downstream_gene_variant,,ENST00000458510,,,MODIFIER,,,,-1;ATAD2B,non_coding_transcript_exon_variant,,ENST00000474583,,n.829_832delATGC,MODIFIER,,,,-1	-	ENST00000238789	Transcript	frameshift_variant	frameshift_variant	2443-2446/8103	2099-2102/4377	700-701/1458	HA/X	cATGCt/ct		1		-1	ATAD2B	HGNC	HGNC:29230	protein_coding	YES	CCDS46227.1	ENSP00000238789	Q9ULI0		UPI00006C056C	NM_017552.2;NM_001242338.1			16/28																			HIGH	1	deletion	5			1											PASS	ATTTCAGCATGAGGA	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	-	7	5	67	23823287	23823287	GCAT	-	1	0	1	0	1	0	0	0	0	1220	971	34	0		0	ATAD2B	2	23823287	Frame_Shift_Del	DEL	GCAT	TCGA-WC-A881-01A-12D-A39W-08		23823287	218370242	2	975											
SF3B1	23451	BI	GRCh38	chr2	197402648	197402648	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcttaataccagtgTgtctcgcttgccaggacttc	8	11	2	0	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.1985A>G	p.His662Arg	p.H662R	ENST00000335508	14/25	67	33	34	75			SF3B1,missense_variant,p.H662R,ENST00000335508,NM_012433.2,c.1985A>G,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	C	ENST00000335508	Transcript	missense_variant	missense_variant	2077/6526	1985/3915	662/1304	H/R	cAc/cGc		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(0.998)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CAGTGTGTCTC	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	C	3	2	67	197402648	197402648	T	C	1	0	0	0	0	1	0	0	0	14428	1696	59	4		4	SF3B1	2	197402648	Missense_Mutation	SNP	T	TCGA-WC-A881-01A-12D-A39W-08	173579361	197402648	44790881	3	976											
TF	7018	BI	GRCh38	chr3	133754654	133754654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgacttacctgagccacGtaaacctcttgagaaaggta	9	10	1	3	rs371174384	byCluster;byFrequency	TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.485G>A	p.Arg162His	p.R162H	ENST00000402696	4/17	115	57	58	166			TF,missense_variant,p.R162H,ENST00000402696,NM_001063.3,c.485G>A,MODERATE,YES,tolerated(0.19),benign(0.012),1;TF,missense_variant,p.R35H,ENST00000482271,,c.104G>A,MODERATE,,tolerated(0.16),benign(0.012),1;TF,downstream_gene_variant,,ENST00000466911,,,MODIFIER,,,,1;TF,non_coding_transcript_exon_variant,,ENST00000475382,,n.577G>A,MODIFIER,,,,1;TFP1,downstream_gene_variant,,ENST00000460564,,,MODIFIER,,,,1;TF,3_prime_UTR_variant,,ENST00000494430,,c.*114G>A,MODIFIER,,,,1;TF,non_coding_transcript_exon_variant,,ENST00000493011,,n.533G>A,MODIFIER,,,,1;TF,non_coding_transcript_exon_variant,,ENST00000498622,,n.714G>A,MODIFIER,,,,1;TF,intron_variant,,ENST00000485977,,c.158-2278G>A,MODIFIER,,,,1;TF,downstream_gene_variant,,ENST00000474287,,,MODIFIER,,,,1;TF,downstream_gene_variant,,ENST00000460531,,,MODIFIER,,,,1;TF,downstream_gene_variant,,ENST00000414694,,,MODIFIER,,,,1	A	ENST00000402696	Transcript	missense_variant	missense_variant	970/2968	485/2097	162/698	R/H	cGt/cAt	rs371174384	1		1	TF	HGNC	HGNC:11740	protein_coding	YES	CCDS3080.1	ENSP00000385834	P02787		UPI000013D5A6	NM_001063.3	tolerated(0.19)	benign(0.012)	4/17		Pfam_domain:PF00405;SMART_domains:SM00094;Superfamily_domains:SSF53850;PIRSF_domain:PIRSF002549								0	1e-04								MODERATE	1	SNV	1			1	2.471e-05	2.471e-05	0	0	0	0	4.496e-05	0	0		PASS	GCCACGTAAAC	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	A	3	1	67	133754654	133754654	G	A	1	0	0	0	0	1	0	0	0	16218	1145	40	1		1	TF	3	133754654	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		133754654	64540905	4	977											
SLIT2	9353	BI	GRCh38	chr4	20253828	20253828	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaagatgcgcggcgttGgctggcagatgctgtccctg	18	9	0	2	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.13G>T	p.Gly5Cys	p.G5C	ENST00000504154	1/37	97	53	44	79			SLIT2,missense_variant,p.G5C,ENST00000504154,NM_004787.2,c.13G>T,MODERATE,YES,deleterious_low_confidence(0.01),probably_damaging(0.965),1;SLIT2,missense_variant,p.G5C,ENST00000503823,NM_001289136.1,c.13G>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.984),1;SLIT2,missense_variant,p.G5C,ENST00000273739,,c.13G>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.984),1;SLIT2,missense_variant,p.G5C,ENST00000503837,NM_001289135.1,c.13G>T,MODERATE,,deleterious_low_confidence(0.01),probably_damaging(0.984),1;SLIT2,5_prime_UTR_variant,,ENST00000622093,,c.-246G>T,MODIFIER,,,,1;SLIT2,upstream_gene_variant,,ENST00000508824,,,MODIFIER,,,,1	T	ENST00000504154	Transcript	missense_variant	missense_variant	265/6390	13/4590	5/1529	G/C	Ggc/Tgc		1		1	SLIT2	HGNC	HGNC:11086	protein_coding	YES	CCDS3426.1	ENSP00000422591	O94813		UPI00000747E4	NM_004787.2	deleterious_low_confidence(0.01)	probably_damaging(0.965)	1/37		Cleavage_site_(Signalp):Sigp																	MODERATE	1	SNV	1			1											PASS	GCGTTGGCTGG	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	T	3	4	67	20253828	20253828	G	T	1	0	0	0	0	1	0	0	0	15031	1348	47	5		5	SLIT2	4	20253828	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		20253828	169960727	5	978											
VWA7	80737	BI	GRCh38	chr6	31769152	31769152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaggggacaagatctcacGccgagctcgaccctgaaccc	11	15	1	3	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.1369C>T	p.Arg457Cys	p.R457C	ENST00000375688	10/17	47	34	13	68			VWA7,missense_variant,p.R457C,ENST00000375688,NM_025258.2,c.1369C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SAPCD1,downstream_gene_variant,,ENST00000415669,NM_001039651.1,,MODIFIER,YES,,,1;MSH5-SAPCD1,downstream_gene_variant,,ENST00000425424,,,MODIFIER,,,,1;SAPCD1,downstream_gene_variant,,ENST00000433778,,,MODIFIER,,,,1;SAPCD1-AS1,upstream_gene_variant,,ENST00000419679,,,MODIFIER,YES,,,-1;VWA7,non_coding_transcript_exon_variant,,ENST00000467576,,n.1232C>T,MODIFIER,,,,-1;VWA7,downstream_gene_variant,,ENST00000487013,,,MODIFIER,,,,-1;MSH5-SAPCD1,downstream_gene_variant,,ENST00000493662,,,MODIFIER,YES,,,1;MSH5-SAPCD1,downstream_gene_variant,,ENST00000498473,,,MODIFIER,,,,1;MSH5-SAPCD1,downstream_gene_variant,,ENST00000476085,,,MODIFIER,,,,1;VWA7,upstream_gene_variant,,ENST00000486423,,,MODIFIER,,,,-1;SAPCD1,downstream_gene_variant,,ENST00000494299,,,MODIFIER,,,,1	A	ENST00000375688	Transcript	missense_variant	missense_variant	1570/2881	1369/2676	457/891	R/C	Cgt/Tgt		1		-1	VWA7	HGNC	HGNC:13939	protein_coding	YES	CCDS4721.2	ENSP00000364840	Q9Y334		UPI0000E5AD19	NM_025258.2	deleterious(0)	probably_damaging(1)	10/17		Superfamily_domains:SSF53300																	MODERATE		SNV	5			1											PASS	CTCACGCCGAG	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	A	3	1	67	31769152	31769152	G	A	1	0	0	0	0	1	0	0	0	17799	1087	38	2		2	VWA7	6	31769152	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		31769152	139036827	6	979											
PPP2R5D	5528	BI	GRCh38	chr6	43010467	43010467	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catctttcttcttggtggcaGgacaatccatggactgatct	9	10	4	1	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.1380-1G>C		p.X460_splice	ENST00000485511		75	54	21	59			PPP2R5D,splice_acceptor_variant,p.X460_splice,ENST00000485511,NM_006245.3,c.1380-1G>C,HIGH,YES,,,1;PPP2R5D,splice_acceptor_variant,p.X452_splice,ENST00000472118,,c.1356-1G>C,HIGH,,,,1;PPP2R5D,splice_acceptor_variant,p.X428_splice,ENST00000394110,NM_180976.2,c.1284-1G>C,HIGH,,,,1;PPP2R5D,splice_acceptor_variant,p.X362_splice,ENST00000470467,,c.1084-1G>C,HIGH,,,,1;PPP2R5D,splice_acceptor_variant,p.X354_splice,ENST00000461010,NM_180977.2&NM_001270476.1,c.1062-1G>C,HIGH,,,,1;PPP2R5D,splice_acceptor_variant,p.X82_splice,ENST00000486843,,c.244-1G>C,HIGH,,,,1;KLHDC3,upstream_gene_variant,,ENST00000326974,NM_057161.3,,MODIFIER,YES,,,1;KLHDC3,upstream_gene_variant,,ENST00000244670,,,MODIFIER,,,,1;KLHDC3,upstream_gene_variant,,ENST00000332245,,,MODIFIER,,,,1;MEA1,downstream_gene_variant,,ENST00000244711,NM_014623.2,,MODIFIER,YES,,,-1;PPP2R5D,splice_acceptor_variant,,ENST00000230402,,c.*1061-1G>C,HIGH,,,,1;PPP2R5D,splice_acceptor_variant,,ENST00000482315,,n.551-1G>C,HIGH,,,,1;PPP2R5D,downstream_gene_variant,,ENST00000467447,,,MODIFIER,,,,1	C	ENST00000485511	Transcript	splice_acceptor_variant	splice_acceptor_variant	-/3044	1380/1809	460/602				1		1	PPP2R5D	HGNC	HGNC:9312	protein_coding	YES	CCDS4878.1	ENSP00000417963	Q14738	A0A024RD11	UPI0000124E92	NM_006245.3				12/15																		HIGH	1	SNV	1			1											PASS	TGGCAGGACAA	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9	NonExonic		True	Unknown	C	5	2	67	43010467	43010467	G	C	1	0	0	0	0	0	0	1	0	12517	1014	35	5		5	PPP2R5D	6	43010467	Splice_Site	SNP	G	TCGA-WC-A881-01A-12D-A39W-08	11241315	43010467	127795512	7	980											
TRIM29	23650	BI	GRCh38	chr11	120125839	120125839	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctccagcaggacatgataGgtgggcaggggtggggggag	20	8	0	1	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.1185C>A	p.=	p.T395T	ENST00000341846	4/9	43	17	26	60			TRIM29,synonymous_variant,p.T395T,ENST00000341846,NM_012101.3,c.1185C>A,LOW,YES,,,-1;TRIM29,synonymous_variant,p.T134T,ENST00000529044,,c.402C>A,LOW,,,,-1;TRIM29,upstream_gene_variant,,ENST00000528870,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000533302,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000526881,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000524816,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000525887,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000525327,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000524956,,,MODIFIER,,,,-1;TRIM29,3_prime_UTR_variant,,ENST00000475051,,c.*523C>A,MODIFIER,,,,-1;TRIM29,non_coding_transcript_exon_variant,,ENST00000530470,,n.519C>A,MODIFIER,,,,-1;TRIM29,downstream_gene_variant,,ENST00000532195,,,MODIFIER,,,,-1;TRIM29,upstream_gene_variant,,ENST00000531555,,,MODIFIER,,,,-1	T	ENST00000341846	Transcript	synonymous_variant	synonymous_variant	1607/3328	1185/1767	395/588	T	acC/acA		1		-1	TRIM29	HGNC	HGNC:17274	protein_coding	YES	CCDS8428.1	ENSP00000343129	Q14134	A0A024R3J1	UPI0000073FDE	NM_012101.3			4/9																			LOW	1	SNV	1			1											PASS	TGATAGGTGGG	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	T	2	4	67	120125839	120125839	G	T	1	0	0	0	0	0	0	0	1	16992	987	35	5		5	TRIM29	11	120125839	Silent	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		120125839	14960783	8	981											
DCUN1D2	55208	BI	GRCh38	chr13	113461117	113461117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataacactaatttccaataCgcaacagccatttctaagtc	4	11	1	0	rs765799407	byFrequency	TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.540G>A	p.=	p.A180A	ENST00000478244	5/7	34	20	14	54			DCUN1D2,synonymous_variant,p.A47A,ENST00000332592,,c.141G>A,LOW,,,,-1;DCUN1D2,synonymous_variant,p.A180A,ENST00000478244,NM_001014283.1,c.540G>A,LOW,YES,,,-1;DCUN1D2,3_prime_UTR_variant,,ENST00000375403,,c.*131G>A,MODIFIER,,,,-1;DCUN1D2,3_prime_UTR_variant,,ENST00000438545,,c.*131G>A,MODIFIER,,,,-1;DCUN1D2,non_coding_transcript_exon_variant,,ENST00000491647,,n.369G>A,MODIFIER,,,,-1;DCUN1D2,upstream_gene_variant,,ENST00000482038,,,MODIFIER,,,,-1	T	ENST00000478244	Transcript	synonymous_variant	synonymous_variant	823/2045	540/780	180/259	A	gcG/gcA	rs765799407	1		-1	DCUN1D2	HGNC	HGNC:20328	protein_coding	YES	CCDS32013.1	ENSP00000417706	Q6PH85		UPI00001CE006	NM_001014283.1			5/7		Pfam_domain:PF03556																	LOW	1	SNV	1			1	4.118e-05	4.299e-05	0	0	0	0	6.263e-05	0	6.32e-05		PASS	CAATACGCAAC	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9		COSM6051090	True	Unknown	T	2	4	67	113461117	113461117	C	T	1	0	0	0	0	0	0	0	1	4117	523	19	1		1	DCUN1D2	13	113461117	Silent	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		113461117	903211	9	982											
GOLGA8B	440270	BI	GRCh38	chr15	34532850	34532850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccactggactcttaccaaaGatttgatggtgtcattcagt	8	10	3	2	rs202243985	byCluster	TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.281C>A	p.Ser94Tyr	p.S94Y	ENST00000342314	3/16	36	19	17	152			GOLGA8B,missense_variant,p.S94Y,ENST00000342314,NM_001023567.4,c.281C>A,MODERATE,YES,deleterious(0.04),benign(0.268),-1;GOLGA8B,missense_variant,p.S124Y,ENST00000438958,,c.371C>A,MODERATE,,deleterious(0.02),benign(0.118),-1;MIR1233-2,upstream_gene_variant,,ENST00000408138,,,MODIFIER,YES,,,-1;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000569100,,n.2607C>A,MODIFIER,,,,-1;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000484716,,n.2605C>A,MODIFIER,,,,-1;GOLGA8B,non_coding_transcript_exon_variant,,ENST00000568555,,n.127C>A,MODIFIER,,,,-1	T	ENST00000342314	Transcript	missense_variant	missense_variant	379/4335	281/1812	94/603	S/Y	tCt/tAt	rs202243985	1		-1	GOLGA8B	HGNC	HGNC:31973	protein_coding	YES	CCDS45211.1	ENSP00000343064	A8MQT2		UPI00001995F1	NM_001023567.4	deleterious(0.04)	benign(0.268)	3/16		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1	0.001296	0.001461	0.001279	0.008227	0	0	0.0006811	0.006042	0.000171		panel_of_normals	CCAAAGATTTG	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9	common_in_exac;gdc_pon		True	Unknown	T	3	4	67	34532850	34532850	G	T	1	0	0	0	0	1	0	0	0	6448	956	33	5		5	GOLGA8B	15	34532850	Missense_Mutation	SNP	G	TCGA-WC-A881-01A-12D-A39W-08		34532850	67458339	10	983											
PPL	5493	BI	GRCh38	chr16	4885850	4885850	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccttcttgagcacctcCttcctcaccaccgattcctg	6	18	2	1	novel		TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.2805G>C	p.Lys935Asn	p.K935N	ENST00000345988	22/22	88	44	44	123			PPL,missense_variant,p.K935N,ENST00000345988,NM_002705.4,c.2805G>C,MODERATE,YES,deleterious(0),possibly_damaging(0.616),-1;PPL,missense_variant,p.K933N,ENST00000590782,,c.2799G>C,MODERATE,,deleterious(0),possibly_damaging(0.71),-1;PPL,missense_variant,p.K356N,ENST00000592772,,c.1068G>C,MODERATE,,deleterious(0),possibly_damaging(0.798),-1;UBN1,downstream_gene_variant,,ENST00000396658,,,MODIFIER,YES,,,1;UBN1,downstream_gene_variant,,ENST00000262376,NM_001079514.2,,MODIFIER,,,,1;PPL,downstream_gene_variant,,ENST00000589090,,,MODIFIER,,,,-1	G	ENST00000345988	Transcript	missense_variant	missense_variant	2895/6238	2805/5271	935/1756	K/N	aaG/aaC		1		-1	PPL	HGNC	HGNC:9273	protein_coding	YES	CCDS10526.1	ENSP00000340510	O60437		UPI00001AE832	NM_002705.4	deleterious(0)	possibly_damaging(0.616)	22/22		PROSITE_profiles:PS50313																	MODERATE	1	SNV	1			1											PASS	ACCTCCTTCCT	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9			True	Unknown	G	3	3	67	4885850	4885850	C	G	1	0	0	0	0	1	0	0	0	12444	680	24	5		5	PPL	16	4885850	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08		4885850	85452495	11	984											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	42	22	20	81			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9		COSM52969	True	Unknown	T	3	4	67	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A881-01A-12D-A39W-08		3118944	55498672	12	985											
CLEC4M	10332	BI	GRCh38	chr19	7768866	7768866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtactggaacagtggagaaCccaacaatagcgggaatgaa	13	7	0	2			TCGA-WC-A881-01A-12D-A39W-08	TCGA-WC-A881-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	437fb6d9-48be-4a5b-b625-d7f20e754c85	f7b9a88b-162a-44d4-b659-d3d32d99f6b6	c.1078C>T	p.Pro360Ser	p.P360S	ENST00000327325	7/7	44	21	23	96			CLEC4M,missense_variant,p.P360S,ENST00000327325,NM_001144910.1&NM_001144905.1&NM_001144909.1&NM_014257.4,c.1078C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;CLEC4M,missense_variant,p.P348S,ENST00000394122,,c.1042C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;CLEC4M,missense_variant,p.P337S,ENST00000248228,,c.1009C>T,MODERATE,,deleterious(0.01),probably_damaging(0.994),1;CLEC4M,missense_variant,p.P309S,ENST00000334806,NM_001144904.1,c.925C>T,MODERATE,,deleterious(0),probably_damaging(0.922),1;CLEC4M,missense_variant,p.P293S,ENST00000359059,NM_001144907.1,c.877C>T,MODERATE,,deleterious(0),probably_damaging(1),1;CLEC4M,missense_variant,p.T294I,ENST00000596363,NM_001144911.1,c.881C>T,MODERATE,,deleterious_low_confidence(0.04),benign(0.075),1;CLEC4M,missense_variant,p.P293S,ENST00000596707,,c.877C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;CLEC4M,missense_variant,p.T230I,ENST00000597522,NM_001144908.1,c.689C>T,MODERATE,,tolerated_low_confidence(0.05),benign(0.01),1;CLEC4M,missense_variant,p.P224S,ENST00000595496,NM_001144906.1,c.670C>T,MODERATE,,,probably_damaging(1),1;CLEC4M,downstream_gene_variant,,ENST00000595751,,,MODIFIER,,,,1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000598879,,n.1413C>T,MODIFIER,,,,1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000599333,,n.1350C>T,MODIFIER,,,,1;CLEC4M,non_coding_transcript_exon_variant,,ENST00000602143,,n.356C>T,MODIFIER,,,,1;CLEC4M,downstream_gene_variant,,ENST00000601089,,,MODIFIER,,,,1	T	ENST00000327325	Transcript	missense_variant	missense_variant	1196/1935	1078/1200	360/399	P/S	Ccc/Tcc		1		1	CLEC4M	HGNC	HGNC:13523	protein_coding	YES	CCDS12187.1	ENSP00000316228	Q9H2X3		UPI0000073C48	NM_001144910.1;NM_001144905.1;NM_001144909.1;NM_014257.4	deleterious(0)	probably_damaging(0.997)	7/7		Pfam_domain:PF00059;PROSITE_profiles:PS50041;SMART_domains:SM00034;Superfamily_domains:SSF56436																	MODERATE	1	SNV	1			1											PASS	GAGAACCCAAC	606a82d0-b801-4580-87b0-0167acff4b9c	9dccbc01-402d-40c6-b21e-7457965b3151	0e06e452-21d8-4f83-bdfe-8a277f81d558	56ed4ea2-18ce-48d4-bf72-9ffabe576ca9		COSM3971375	True	Unknown	T	3	4	67	7768866	7768866	C	T	1	0	0	0	0	1	0	0	0	3286	507	18	3		3	CLEC4M	19	7768866	Missense_Mutation	SNP	C	TCGA-WC-A881-01A-12D-A39W-08	4649922	7768866	50848750	13	986											
LIMS1	3987	BI	GRCh38	chr2	108680747	108680747	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aactgctttgcctgttctacCtgcaacactaaattaacact	4	12	1	0	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.840C>G	p.=	p.T280T	ENST00000332345	9/10	32	21	11	165			LIMS1,synonymous_variant,p.T342T,ENST00000542845,NM_001193485.2,c.1026C>G,LOW,YES,,,1;LIMS1,synonymous_variant,p.T292T,ENST00000544547,NM_001193483.2,c.876C>G,LOW,,,,1;LIMS1,synonymous_variant,p.T280T,ENST00000393310,NM_001193488.1,c.840C>G,LOW,,,,1;LIMS1,synonymous_variant,p.T280T,ENST00000338045,,c.840C>G,LOW,,,,1;LIMS1,synonymous_variant,p.T317T,ENST00000409441,NM_001193484.1,c.951C>G,LOW,,,,1;LIMS1,synonymous_variant,p.T284T,ENST00000410093,NM_001193482.1,c.852C>G,LOW,,,,1;LIMS1,synonymous_variant,p.T280T,ENST00000332345,NM_004987.5,c.840C>G,LOW,,,,1;LIMS1-AS1,upstream_gene_variant,,ENST00000411710,,,MODIFIER,YES,,,-1;LIMS1,non_coding_transcript_exon_variant,,ENST00000480744,,n.347C>G,MODIFIER,,,,1	G	ENST00000332345	Transcript	synonymous_variant	synonymous_variant	959/1235	840/978	280/325	T	acC/acG		1		1	LIMS1	HGNC	HGNC:6616	protein_coding		CCDS2078.1	ENSP00000331775	P48059		UPI0000131AF3	NM_004987.5			9/10		Pfam_domain:PF00412;PROSITE_profiles:PS50023;SMART_domains:SM00132;Superfamily_domains:SSF57716;Superfamily_domains:SSF57716;PIRSF_domain:PIRSF038003																	LOW		SNV	1			1											PASS	TCTACCTGCAA	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	G	2	3	68	108680747	108680747	C	G	1	0	0	0	0	0	0	0	1	8711	668	24	5		5	LIMS1	2	108680747	Silent	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		108680747	133512782	1	987											
SNTN	132203	BI	GRCh38	chr3	63652787	63652787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcgcacctaggaaaAtgcccaaaaggtcagtggca	10	13	1	0	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.100A>T	p.Met34Leu	p.M34L	ENST00000343837	1/4	40	26	14	46			SNTN,missense_variant,p.M30L,ENST00000496807,,c.88A>T,MODERATE,,tolerated(0.06),benign(0.368),1;SNTN,missense_variant,p.M34L,ENST00000343837,NM_001080537.1,c.100A>T,MODERATE,YES,tolerated(0.05),possibly_damaging(0.539),1;SNTN,missense_variant,p.M34L,ENST00000469440,,c.100A>T,MODERATE,,tolerated_low_confidence(0.05),benign(0.255),1	T	ENST00000343837	Transcript	missense_variant	missense_variant	120/1090	100/444	34/147	M/L	Atg/Ttg		1		1	SNTN	HGNC	HGNC:33706	protein_coding	YES	CCDS33779.1	ENSP00000341442	A6NMZ2		UPI000015D697	NM_001080537.1	tolerated(0.05)	possibly_damaging(0.539)	1/4																			MODERATE	1	SNV	2			1											PASS	GGAAAATGCCC	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	T	3	4	68	63652787	63652787	A	T	1	0	0	0	0	1	0	0	0	15196	101	4	5		5	SNTN	3	63652787	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		63652787	134642772	2	988											
ZNF518B	85460	BI	GRCh38	chr4	10443228	10443228	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaccagcacttaaatacaCactgtgaagaatcatcaggc	6	10	2	2	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.3101G>A	p.Cys1034Tyr	p.C1034Y	ENST00000326756	3/3	60	43	17	91			ZNF518B,missense_variant,p.C1034Y,ENST00000326756,NM_053042.2,c.3101G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;ZNF518B,downstream_gene_variant,,ENST00000507515,,,MODIFIER,,,,-1	T	ENST00000326756	Transcript	missense_variant	missense_variant	3540/6894	3101/3225	1034/1074	C/Y	tGt/tAt		1		-1	ZNF518B	HGNC	HGNC:29365	protein_coding	YES	CCDS33960.1	ENSP00000317614	Q9C0D4		UPI0000160B97	NM_053042.2	deleterious(0)	probably_damaging(0.997)	3/3																			MODERATE	1	SNV	3			1											PASS	ATACACACTGT	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	T	3	4	68	10443228	10443228	C	T	1	0	0	0	0	1	0	0	0	18535	478	17	3		3	ZNF518B	4	10443228	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		10443228	179771327	3	989											
PCDHGB4	8641	BI	GRCh38	chr5	141389751	141389751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctggggctgcgcacgggcGaagtgcgcacagcgcgtgcc	18	14	0	0			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.1867G>A	p.Glu623Lys	p.E623K	ENST00000519479	1/4	70	45	25	64			PCDHGB4,missense_variant,p.E623K,ENST00000615384,NM_032098.1,c.1867G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.752),1;PCDHGB4,missense_variant,p.E623K,ENST00000519479,NM_003736.2,c.1867G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.944),1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3,c.2514+32130G>A,MODIFIER,YES,,,1;PCDHGA6,intron_variant,,ENST00000517434,NM_018919.2,c.2424+13244G>A,MODIFIER,YES,,,1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,c.2424+43294G>A,MODIFIER,YES,,,1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,c.2415+16942G>A,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3,c.2424+48356G>A,MODIFIER,YES,,,1;PCDHGA7,intron_variant,,ENST00000518325,NM_018920.3,c.2424+4428G>A,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+56646G>A,MODIFIER,YES,,,1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,c.2421+23000G>A,MODIFIER,YES,,,1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,c.2421+27195G>A,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2409+37082G>A,MODIFIER,YES,,,1;PCDHGA8,upstream_gene_variant,,ENST00000610569,NM_014004.2,,MODIFIER,,,,1;PCDHGA8,upstream_gene_variant,,ENST00000398604,NM_032088.1,,MODIFIER,YES,,,1;PCDHGA7,downstream_gene_variant,,ENST00000617050,NM_032087.2,,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2003+43294G>A,MODIFIER,,,,1	A	ENST00000519479	Transcript	missense_variant	missense_variant	1867/4578	1867/2772	623/923	E/K	Gaa/Aaa		1		1	PCDHGB4	HGNC	HGNC:8711	protein_coding	YES	CCDS54928.1	ENSP00000428288	Q9UN71		UPI000006F773	NM_003736.2	deleterious(0.01)	probably_damaging(0.944)	1/4		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	CGGGCGAAGTG	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3		COSM3851931	True	Unknown	A	3	1	68	141389751	141389751	G	A	1	0	0	0	0	1	0	0	0	11652	1059	37	2		2	PCDHGB4	5	141389751	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		141389751	40148508	4	990											
LAMA2	3908	BI	GRCh38	chr6	129342394	129342394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacgatgtgctcttggaTactatggaattgtcaaggga	13	5	2	1	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.4363T>C	p.Tyr1455His	p.Y1455H	ENST00000421865	30/65	89	65	24	112			LAMA2,missense_variant,p.Y1455H,ENST00000618192,,c.4363T>C,MODERATE,,deleterious(0.01),possibly_damaging(0.771),1;LAMA2,missense_variant,p.Y1455H,ENST00000617695,,c.4363T>C,MODERATE,,deleterious(0.01),benign(0.134),1;LAMA2,missense_variant,p.Y1455H,ENST00000421865,NM_000426.3&NM_001079823.1,c.4363T>C,MODERATE,YES,deleterious(0.01),possibly_damaging(0.853),1	C	ENST00000421865	Transcript	missense_variant	missense_variant	4412/9640	4363/9369	1455/3122	Y/H	Tac/Cac		1		1	LAMA2	HGNC	HGNC:6482	protein_coding	YES	CCDS5138.1	ENSP00000400365	P24043		UPI00003673E0	NM_000426.3;NM_001079823.1	deleterious(0.01)	possibly_damaging(0.853)	30/65		Pfam_domain:PF00053;PROSITE_profiles:PS50311;PROSITE_profiles:PS50027;SMART_domains:SM00180;SMART_domains:SM00181;Superfamily_domains:SSF57196																	MODERATE	1	SNV	5			1											PASS	TTGGATACTAT	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	C	3	2	68	129342394	129342394	T	C	1	0	0	0	0	1	0	0	0	8510	1406	49	4		4	LAMA2	6	129342394	Missense_Mutation	SNP	T	TCGA-WC-A882-01A-11D-A39W-08		129342394	41463585	5	991											
ZNF511	118472	BI	GRCh38	chr10	133309856	133309856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgagcaccactaccacaCgctgcacggaaatgtttgct	8	14	0	0	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.308C>T	p.Thr103Met	p.T103M	ENST00000359035	3/5	55	34	21	57			ZNF511,missense_variant,p.T103M,ENST00000359035,,c.308C>T,MODERATE,,tolerated(0.14),benign(0.105),1;ZNF511,missense_variant,p.T103M,ENST00000361518,NM_145806.2,c.308C>T,MODERATE,YES,tolerated(0.22),benign(0.062),1;PRAP1,missense_variant,p.T38M,ENST00000368554,,c.113C>T,MODERATE,,tolerated_low_confidence(0.17),possibly_damaging(0.897),1;TUBGCP2,upstream_gene_variant,,ENST00000543663,NM_001256617.1,,MODIFIER,YES,,,-1;TUBGCP2,upstream_gene_variant,,ENST00000368563,NM_006659.3,,MODIFIER,,,,-1;TUBGCP2,upstream_gene_variant,,ENST00000417178,NM_001256618.1,,MODIFIER,,,,-1;ZNF511,intron_variant,,ENST00000463816,,n.25-308C>T,MODIFIER,,,,1;TUBGCP2,upstream_gene_variant,,ENST00000470829,,,MODIFIER,,,,-1;ZNF511,non_coding_transcript_exon_variant,,ENST00000482153,,n.303C>T,MODIFIER,,,,1;TUBGCP2,intron_variant,,ENST00000482278,,c.-40+1764G>A,MODIFIER,,,,-1;TUBGCP2,upstream_gene_variant,,ENST00000480198,,,MODIFIER,,,,-1;TUBGCP2,upstream_gene_variant,,ENST00000487796,,,MODIFIER,,,,-1	T	ENST00000359035	Transcript	missense_variant	missense_variant	311/2004	308/789	103/262	T/M	aCg/aTg		1		1	ZNF511	HGNC	HGNC:28445	protein_coding			ENSP00000351929	Q8NB15		UPI00000729D2		tolerated(0.14)	benign(0.105)	3/5		SMART_domains:SM00355;Superfamily_domains:SSF57667;Superfamily_domains:SSF57716																	MODERATE		SNV	2			1											PASS	CCACACGCTGC	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	T	3	4	68	133309856	133309856	C	T	1	0	0	0	0	1	0	0	0	18527	536	19	1		1	ZNF511	10	133309856	Missense_Mutation	SNP	C	TCGA-WC-A882-01A-11D-A39W-08		133309856	487566	6	992											
SHF	90525	BI	GRCh38	chr15	45171924	45171924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgctggtctcactgttGcgcaccaggtagctggcctc	11	13	2	0	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.1044C>T	p.=	p.R348R	ENST00000290894	7/8	31	15	16	40			SHF,stop_gained,p.Q413*,ENST00000560471,,c.1237C>T,HIGH,,,,-1;SHF,stop_gained,p.Q366*,ENST00000560540,NM_001301169.1&NM_001301168.1,c.1096C>T,HIGH,,,,-1;SHF,splice_region_variant,,ENST00000561239,,c.328+6C>T,LOW,,,,-1;SHF,synonymous_variant,p.R348R,ENST00000290894,NM_138356.2,c.1044C>T,LOW,YES,,,-1;SHF,synonymous_variant,p.R164R,ENST00000458022,NM_001301171.1,c.492C>T,LOW,,,,-1;SHF,synonymous_variant,p.R185R,ENST00000559566,,c.554C>T,LOW,,,,-1;SHF,synonymous_variant,p.R88R,ENST00000558294,,c.263C>T,LOW,,,,-1;SHF,3_prime_UTR_variant,,ENST00000558685,,c.*79C>T,MODIFIER,,,,-1;SHF,intron_variant,,ENST00000560734,NM_001301170.1,c.847+3295C>T,MODIFIER,,,,-1;SHF,downstream_gene_variant,,ENST00000561278,,,MODIFIER,,,,-1;RP11-519G16.2,intron_variant,,ENST00000560034,,n.191+1390G>A,MODIFIER,YES,,,1;CTD-2651B20.1,upstream_gene_variant,,ENST00000558039,,,MODIFIER,YES,,,-1;SHF,downstream_gene_variant,,ENST00000561091,,,MODIFIER,,,,-1	A	ENST00000290894	Transcript	synonymous_variant	synonymous_variant	1539/2500	1044/1272	348/423	R	cgC/cgT		1		-1	SHF	HGNC	HGNC:25116	protein_coding	YES	CCDS10120.2	ENSP00000290894	Q7M4L6		UPI00001402D9	NM_138356.2			7/8		Pfam_domain:PF00017;PROSITE_profiles:PS50001;SMART_domains:SM00252;Prints_domain:PR00401;Superfamily_domains:SSF55550																	LOW	1	SNV	2			1											PASS	CTGTTGCGCAC	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	A	2	1	68	45171924	45171924	G	A	1	0	0	0	0	0	0	0	1	14537	1328	46	3		3	SHF	15	45171924	Silent	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		45171924	56819265	7	993											
SRSF2	6427	BI	GRCh38	chr17	76736861	76736887	+	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-													ggtggcggtccccggcggctGtggtgtgagtccggggggcg					novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.274_300delTACGGCCGCCCCCCGGACTCACACCAC	p.Tyr92_His100del	p.Y92_H100del	ENST00000359995	1/3	45	34	11	46			SRSF2,inframe_deletion,p.Y92_H100del,ENST00000392485,NM_003016.4,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,YES,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000359995,NM_001195427.1,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000508921,,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000358156,,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000583836,,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;MFSD11,5_prime_UTR_variant,,ENST00000588460,,c.-1491_-1465delTGGTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,YES,,,1;MFSD11,5_prime_UTR_variant,,ENST00000586622,,c.-301_-275delTGGTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;MFSD11,5_prime_UTR_variant,,ENST00000621483,NM_001242534.1,c.-301_-275delTGGTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;MFSD11,5_prime_UTR_variant,,ENST00000591864,,c.-301_-275delTGGTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,,,,1;RP11-318A15.7,intron_variant,,ENST00000587459,,c.239-1420_239-1394delTGGTGTGAGTCCGGGGGGCGGCCGTAG,MODIFIER,YES,,,1;MFSD11,upstream_gene_variant,,ENST00000355954,NM_001242536.1&NM_001242537.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000336509,NM_001242533.1&NM_001242535.1&NM_024311.3&NM_001242532.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000593181,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590514,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588783,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000615984,NM_001206983.1&NM_001080510.3&NM_001206984.1,,MODIFIER,YES,,,1;METTL23,downstream_gene_variant,,ENST00000341249,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590393,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586738,NM_001302703.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588822,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000590964,NM_001206987.1&NM_001206985.1&NM_001206986.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588302,NM_001302704.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586752,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000587661,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000592849,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000589977,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588964,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000591571,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588563,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000586689,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586200,,,MODIFIER,,,,1;MIR636,upstream_gene_variant,,ENST00000384825,,,MODIFIER,YES,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000585202,,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.Y92_H100del,ENST00000452355,,c.274_300delTACGGCCGCCCCCCGGACTCACACCAC,MODERATE,,,,-1;SRSF2,upstream_gene_variant,,ENST00000582449,,,MODIFIER,,,,-1;SRSF2,upstream_gene_variant,,ENST00000586778,,,MODIFIER,,,,-1;MFSD11,upstream_gene_variant,,ENST00000588768,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588670,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588031,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000589919,,,MODIFIER,,,,-1;METTL23,downstream_gene_variant,,ENST00000589581,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000592676,,,MODIFIER,,,,-1	-	ENST00000359995	Transcript	inframe_deletion	inframe_deletion	488-514/1927	274-300/666	92-100/221	YGRPPDSHH/-	TACGGCCGCCCCCCGGACTCACACCAC/-		1		-1	SRSF2	HGNC	HGNC:10783	protein_coding		CCDS11749.1	ENSP00000353089	Q01130	A0A024R8U5		NM_001195427.1			1/3		PROSITE_profiles:PS50323;PROSITE_profiles:PS50102;Superfamily_domains:SSF54928																	MODERATE		deletion	1			1											PASS	GCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTAGCGCG	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			True	Unknown	-	7	5	68	76736861	76736861	GTGGTGTGAGTCCGGGGGGCGGCCGTA	-	1	0	1	0	1	0	0	0	0	15539	1368	48	0		0	SRSF2	17	76736861	In_Frame_Del	DEL	GTGGTGTGAGTCCGGGGGGCGGCCGTA	TCGA-WC-A882-01A-11D-A39W-08		76736861	6520580	8	994											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	38	23	15	71			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3		COSM52969	True	Unknown	T	3	4	68	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A882-01A-11D-A39W-08		3118944	55498672	9	995											
PPP2R1A	5518	BI	GRCh38	chr19	52212730	52212730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacccccatggtgcggcGggccgcagcctccaagctgg	14	16	0	1			TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.548G>A	p.Arg183Gln	p.R183Q	ENST00000322088	5/15	46	30	16	59			PPP2R1A,missense_variant,p.R183Q,ENST00000322088,NM_014225.5,c.548G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;PPP2R1A,missense_variant,p.R4Q,ENST00000462990,,c.11G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;PPP2R1A,missense_variant,p.R223Q,ENST00000454220,,c.668G>A,MODERATE,,deleterious(0),probably_damaging(0.994),1;PPP2R1A,downstream_gene_variant,,ENST00000473455,,,MODIFIER,,,,1;PPP2R1A,downstream_gene_variant,,ENST00000495876,,,MODIFIER,,,,1;PPP2R1A,non_coding_transcript_exon_variant,,ENST00000462047,,n.239G>A,MODIFIER,,,,1;PPP2R1A,downstream_gene_variant,,ENST00000468280,,,MODIFIER,,,,1;PPP2R1A,downstream_gene_variant,,ENST00000490868,,,MODIFIER,,,,1;PPP2R1A,upstream_gene_variant,,ENST00000473820,,,MODIFIER,,,,1	A	ENST00000322088	Transcript	missense_variant	missense_variant	606/5380	548/1770	183/589	R/Q	cGg/cAg		1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5	deleterious(0)	probably_damaging(0.997)	5/15		Pfam_domain:PF02985;PROSITE_profiles:PS50077;Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	GCGGCGGGCCG	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3		COSM51253	True	Unknown	A	3	1	68	52212730	52212730	G	A	1	0	0	0	0	1	0	0	0	12505	1116	39	2		2	PPP2R1A	19	52212730	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08	49093786	52212730	6404886	10	996											
DGKK	139189	BI	GRCh38	chrX	50470125	50470125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctcgagtgtccaccGgacattgcaatagacatggt	9	12	2	1	novel		TCGA-WC-A882-01A-11D-A39W-08	TCGA-WC-A882-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	80a27cb8-c383-4f8f-88ce-26d7e1b1a7b7	3db1ec77-aa26-4f4e-aff9-887f1bf67264	c.554C>T	p.Pro185Leu	p.P185L	ENST00000611977	1/28	49	46	3	56			DGKK,missense_variant,p.P185L,ENST00000611977,NM_001013742.2,c.554C>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.216),-1	A	ENST00000611977	Transcript	missense_variant	missense_variant	614/7407	554/3816	185/1271	P/L	cCg/cTg		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.2	deleterious_low_confidence(0)	benign(0.216)	1/28		PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CCACCGGACAT	527495a2-d822-41c1-9789-7fef14a6014e	8d8666e3-9b09-49d4-9f0e-16ccc36b3454	584e8b78-4108-4497-98d2-23686d5af2e0	7f1e74d4-8789-4954-8a63-b0ca5f0373c3			False	Unknown	A	3	1	68	50470125	50470125	G	A	1	0	0	0	0	1	0	0	0	4278	1116	39	2		2	DGKK	23	50470125	Missense_Mutation	SNP	G	TCGA-WC-A882-01A-11D-A39W-08		50470125	105570770	11	997											
JAK1	3716	BI	GRCh38	chr1	64873369	64873369	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggcccaaacttcctaCctgagcaaacagatactcca	6	15	0	2	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.483+1G>A		p.X161_splice	ENST00000342505		11	3	8	63			JAK1,splice_donor_variant,p.X161_splice,ENST00000342505,NM_002227.2,c.483+1G>A,HIGH,YES,,,-1;JAK1,downstream_gene_variant,,ENST00000467764,,,MODIFIER,,,,-1	T	ENST00000342505	Transcript	splice_donor_variant	splice_donor_variant	-/5047	483/3465	161/1154				1		-1	JAK1	HGNC	HGNC:6190	protein_coding	YES	CCDS41346.1	ENSP00000343204	P23458		UPI0000054C7D	NM_002227.2				5/24																		HIGH	1	SNV	5			1											PASS	TCCTACCTGAG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e	NonExonic		True	Unknown	T	5	4	69	64873369	64873369	C	T	1	0	0	0	0	0	0	1	0	7850	521	18	3		3	JAK1	1	64873369	Splice_Site	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		64873369	184083053	1	998											
NOP14	8602	BI	GRCh38	chr4	2950117	2950117	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctcctctgtgtcctcccCgcctgaactgtcaccttctt	6	18	4	1	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.1099G>A	p.Gly367Arg	p.G367R	ENST00000314262	8/19	156	88	68	225			NOP14,missense_variant,p.G367R,ENST00000416614,NM_001291978.1,c.1099G>A,MODERATE,YES,tolerated(0.45),benign(0.004),-1;NOP14,missense_variant,p.G367R,ENST00000314262,NM_003703.1,c.1099G>A,MODERATE,,tolerated(0.45),benign(0.004),-1;NOP14,missense_variant,p.G367R,ENST00000502735,NM_001291979.1,c.1099G>A,MODERATE,,tolerated(0.45),benign(0.007),-1;NOP14,missense_variant,p.G367R,ENST00000398071,,c.1099G>A,MODERATE,,tolerated(0.47),benign(0.004),-1;NOP14-AS1,intron_variant,,ENST00000515194,,n.2946-36C>T,MODIFIER,YES,,,1;NOP14-AS1,intron_variant,,ENST00000503709,,n.828-36C>T,MODIFIER,,,,1;NOP14-AS1,downstream_gene_variant,,ENST00000505731,,,MODIFIER,,,,1;NOP14-AS1,downstream_gene_variant,,ENST00000507702,,,MODIFIER,,,,1	T	ENST00000314262	Transcript	missense_variant	missense_variant	1148/2889	1099/2574	367/857	G/R	Ggg/Agg		1		-1	NOP14	HGNC	HGNC:16821	protein_coding		CCDS33945.1	ENSP00000315674	P78316		UPI00001A9472	NM_003703.1	tolerated(0.45)	benign(0.004)	8/19		Low_complexity_(Seg):Seg;Pfam_domain:PF04147																	MODERATE		SNV	1			1											panel_of_normals	CTCCCCGCCTG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e	gdc_pon		True	Unknown	T	3	4	69	2950117	2950117	C	T	1	0	0	0	0	1	0	0	0	10580	652	23	2		2	NOP14	4	2950117	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		2950117	187264438	2	999											
UBA6	55236	BI	GRCh38	chr4	67665264	67665264	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggttccagttctgtggtgtcAccaatactaaaagaaaatgg	10	7	2	1	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.822T>C	p.=	p.G274G	ENST00000322244	10/33	85	48	37	135			UBA6,synonymous_variant,p.G274G,ENST00000322244,NM_018227.5,c.822T>C,LOW,YES,,,-1;UBA6,synonymous_variant,p.G274G,ENST00000420827,,c.822T>C,LOW,,,,-1;UBA6,non_coding_transcript_exon_variant,,ENST00000429659,,n.851T>C,MODIFIER,,,,-1	G	ENST00000322244	Transcript	synonymous_variant	synonymous_variant	882/9564	822/3159	274/1052	G	ggT/ggC		1		-1	UBA6	HGNC	HGNC:25581	protein_coding	YES	CCDS3516.1	ENSP00000313454	A0AVT1	A0A024RDB0	UPI000004A4F7	NM_018227.5			10/33		TIGRFAM_domain:TIGR01408;Superfamily_domains:SSF69572																	LOW	1	SNV	1			1											PASS	GTGTCACCAAT	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	G	2	3	69	67665264	67665264	A	G	1	0	0	0	0	0	0	0	1	17351	146	6	4		4	UBA6	4	67665264	Silent	SNP	A	TCGA-WC-A883-01A-12D-A39W-08	64715147	67665264	122549291	3	1000											
CYC1	1537	BI	GRCh38	chr8	144096597	144096598	+	In_Frame_Ins	INS	-	-	ACTACT													tcctaggcatggtggtgaggINSactacgtcttctccctgctc					novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.630_631insTACTAC	p.Tyr210_Val211insTyrTyr	p.Y210_V211insYY	ENST00000318911	5/7	134	116	18	73			CYC1,inframe_insertion,p.Y210_V211insYY,ENST00000318911,NM_001916.4,c.630_631insTACTAC,MODERATE,YES,,,1;SHARPIN,downstream_gene_variant,,ENST00000398712,NM_030974.3,,MODIFIER,YES,,,-1;SHARPIN,downstream_gene_variant,,ENST00000532536,,,MODIFIER,,,,-1;SHARPIN,downstream_gene_variant,,ENST00000533948,,,MODIFIER,,,,-1;SHARPIN,downstream_gene_variant,,ENST00000534242,,,MODIFIER,,,,-1;CYC1,non_coding_transcript_exon_variant,,ENST00000533444,,n.1295_1296insTACTAC,MODIFIER,,,,1;CYC1,non_coding_transcript_exon_variant,,ENST00000525122,,n.258_259insTACTAC,MODIFIER,,,,1;SHARPIN,downstream_gene_variant,,ENST00000359551,,,MODIFIER,,,,-1;CYC1,downstream_gene_variant,,ENST00000528618,,,MODIFIER,,,,1;SHARPIN,downstream_gene_variant,,ENST00000530216,,,MODIFIER,,,,-1;SHARPIN,downstream_gene_variant,,ENST00000525275,,,MODIFIER,,,,-1	ACTACT	ENST00000318911	Transcript	inframe_insertion	inframe_insertion	698-699/1240	625-626/978	209/325	D/DYY	gac/gACTACTac		1		1	CYC1	HGNC	HGNC:2579	protein_coding	YES	CCDS6415.1	ENSP00000317159	P08574		UPI000014046B	NM_001916.4			5/7		Pfam_domain:PF02167;Prints_domain:PR00603;Superfamily_domains:SSF46626																	MODERATE	1	insertion	1	5		1											panel_of_normals	GTGAGGACTAC	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e	gdc_pon		True	Unknown	ACTACT	7	5	69	144096597	144096597	-	ACTACT	1	0	1	1	0	0	0	0	0	3938	1174	41	0		0	CYC1	8	144096597	In_Frame_Ins	INS	-	TCGA-WC-A883-01A-12D-A39W-08		144096597	1042039	4	1001											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	71	42	29	113			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e		COSM28758	True	Unknown	G	3	3	69	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		77794572	60600145	5	1002											
ZNF462	58499	BI	GRCh38	chr9	106929017	106929017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcaagtgtgccctgtGtgcctacaccaaccccatcc	6	18	2	0	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.5105G>A	p.Cys1702Tyr	p.C1702Y	ENST00000277225	3/13	30	20	10	41			ZNF462,missense_variant,p.C1702Y,ENST00000277225,NM_021224.4,c.5105G>A,MODERATE,YES,,probably_damaging(0.993),1;ZNF462,missense_variant,p.C585Y,ENST00000374686,,c.1754G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;ZNF462,missense_variant,p.C547Y,ENST00000441147,,c.1640G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;ZNF462,intron_variant,,ENST00000472574,,c.281-1508G>A,MODIFIER,,,,1;RP11-508N12.4,downstream_gene_variant,,ENST00000451160,,,MODIFIER,YES,,,1;ZNF462,intron_variant,,ENST00000480607,,n.241-1508G>A,MODIFIER,,,,1;ZNF462,upstream_gene_variant,,ENST00000497489,,,MODIFIER,,,,1;ZNF462,upstream_gene_variant,,ENST00000479166,,,MODIFIER,,,,1;ZNF462,upstream_gene_variant,,ENST00000469433,,,MODIFIER,,,,1;ZNF462,upstream_gene_variant,,ENST00000471032,,,MODIFIER,,,,1	A	ENST00000277225	Transcript	missense_variant	missense_variant	5394/10414	5105/7521	1702/2506	C/Y	tGt/tAt		1		1	ZNF462	HGNC	HGNC:21684	protein_coding	YES	CCDS35096.1	ENSP00000277225	Q96JM2		UPI0000470106	NM_021224.4		probably_damaging(0.993)	3/13		SMART_domains:SM00355;Superfamily_domains:SSF81995																	MODERATE	1	SNV	1			1											PASS	CCTGTGTGCCT	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	A	3	1	69	106929017	106929017	G	A	1	0	0	0	0	1	0	0	0	18497	1377	48	3		3	ZNF462	9	106929017	Missense_Mutation	SNP	G	TCGA-WC-A883-01A-12D-A39W-08	29134445	106929017	31465700	6	1003											
USP15	9958	BI	GRCh38	chr12	62384085	62384085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attatccttgtaggtggttgCcgaagaagcctgggaaaacc	12	8	0	1	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.1256C>T	p.Ala419Val	p.A419V	ENST00000280377	11/22	67	40	27	76			USP15,missense_variant,p.A390V,ENST00000353364,NM_006313.2,c.1169C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;USP15,missense_variant,p.A419V,ENST00000280377,NM_001252078.1,c.1256C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;USP15,downstream_gene_variant,,ENST00000547317,,,MODIFIER,,,,1;USP15,non_coding_transcript_exon_variant,,ENST00000549268,,n.614C>T,MODIFIER,,,,1	T	ENST00000280377	Transcript	missense_variant	missense_variant	1314/4748	1256/2946	419/981	A/V	gCc/gTc		1		1	USP15	HGNC	HGNC:12613	protein_coding	YES	CCDS58251.1	ENSP00000280377	Q9Y4E8		UPI00001379F8	NM_001252078.1	deleterious(0)	probably_damaging(0.999)	11/22		Pfam_domain:PF00443;PROSITE_profiles:PS50235;Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1											PASS	GGTTGCCGAAG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	T	3	4	69	62384085	62384085	C	T	1	0	0	0	0	1	0	0	0	17580	739	26	3		3	USP15	12	62384085	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		62384085	70891224	7	1004											
GRN	2896	BI	GRCh38	chr17	44351694	44351695	+	In_Frame_Ins	INS	-	-	GGGCACCTGTGGGGAGTG													cctgccagacccacaagcctINStgaagagagatgtcccctgt					novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.1078_1079insGGGCACCTGTGGGGAGTG	p.Leu360delinsTrpAlaProValGlySerVal	p.L360delinsWAPVGSV	ENST00000053867	10/13	48	46	2	99			GRN,protein_altering_variant,p.L360delinsWAPVGSV,ENST00000053867,NM_002087.2,c.1078_1079insGGGCACCTGTGGGGAGTG,MODERATE,YES,,,1;GRN,protein_altering_variant,p.L203delinsWAPVGSV,ENST00000589265,,c.607_608insGGGCACCTGTGGGGAGTG,MODERATE,,,,1;GRN,protein_altering_variant,p.L174delinsWAPVGSV,ENST00000586443,,c.519_520insGGGCACCTGTGGGGAGTG,MODERATE,,,,1;FAM171A2,downstream_gene_variant,,ENST00000293443,NM_198475.2,,MODIFIER,YES,,,-1;GRN,downstream_gene_variant,,ENST00000593167,,,MODIFIER,,,,1;GRN,upstream_gene_variant,,ENST00000586242,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000587387,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000591740,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000585512,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000588237,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000588143,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000589536,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000592783,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000587109,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000587518,,,MODIFIER,,,,1;GRN,non_coding_transcript_exon_variant,,ENST00000589923,,n.336_337insGGGCACCTGTGGGGAGTG,MODIFIER,,,,1;FAM171A2,downstream_gene_variant,,ENST00000589407,,,MODIFIER,,,,-1;FAM171A2,downstream_gene_variant,,ENST00000588067,,,MODIFIER,,,,-1;GRN,downstream_gene_variant,,ENST00000586782,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000585348,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000588170,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000590984,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000587958,,,MODIFIER,,,,1;GRN,downstream_gene_variant,,ENST00000592323,,,MODIFIER,,,,1	GGGCACCTGTGGGGAGTG	ENST00000053867	Transcript	protein_altering_variant	protein_altering_variant	1140-1141/2148	1078-1079/1782	360/593	L/WAPVGSV	ttg/tGGGCACCTGTGGGGAGTGtg		1		1	GRN	HGNC	HGNC:4601	protein_coding	YES	CCDS11483.1	ENSP00000053867	P28799		UPI00000015E0	NM_002087.2			10/13		PROSITE_profiles:PS50311																	MODERATE	1	insertion	1			1											PASS	AAGCCTTGAAG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			False	Unknown	GGGCACCTGTGGGGAGTG	7	5	69	44351694	44351694	-	GGGCACCTGTGGGGAGTG	1	0	1	1	0	0	0	0	0	6686	1606	56	0		0	GRN	17	44351694	In_Frame_Ins	INS	-	TCGA-WC-A883-01A-12D-A39W-08		44351694	38905747	8	1005											
PSG4	5672	BI	GRCh38	chr19	43203939	43203939	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcccatcgcgtcgcTttatgatgtgtaaggtgtag	11	10	0	1	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.377A>T	p.Lys126Met	p.K126M	ENST00000405312	2/6	201	125	76	255			PSG4,missense_variant,p.K126M,ENST00000405312,NM_002780.4,c.377A>T,MODERATE,YES,deleterious(0.03),benign(0.22),-1;PSG4,missense_variant,p.K126M,ENST00000433626,NM_001276495.1,c.377A>T,MODERATE,,tolerated(0.05),probably_damaging(0.948),-1;PSG4,missense_variant,p.K126M,ENST00000244295,NM_213633.2,c.377A>T,MODERATE,,deleterious(0.04),probably_damaging(0.999),-1;PSG4,missense_variant,p.K142M,ENST00000451895,,c.425A>T,MODERATE,,tolerated(0.07),benign(0.391),-1;PSG4,missense_variant,p.K105M,ENST00000599746,,c.313A>T,MODERATE,,tolerated(0.06),benign(0.158),-1;PSG4,missense_variant,p.K55M,ENST00000600572,,c.164A>T,MODERATE,,deleterious(0.04),benign(0.22),-1;PSG4,intron_variant,,ENST00000596907,,c.64+1534A>T,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000599391,,c.64+1534A>T,MODIFIER,,,,-1;PSG4,non_coding_transcript_exon_variant,,ENST00000597912,,n.1444A>T,MODIFIER,,,,-1;PSG4,non_coding_transcript_exon_variant,,ENST00000495316,,n.113A>T,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000595949,,c.64+1534A>T,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000601041,,c.64+1534A>T,MODIFIER,,,,-1;PSG4,intron_variant,,ENST00000596199,,n.166+1534A>T,MODIFIER,,,,-1	A	ENST00000405312	Transcript	missense_variant	missense_variant	615/2168	377/1260	126/419	K/M	aAg/aTg		1		-1	PSG4	HGNC	HGNC:9521	protein_coding	YES	CCDS46093.1	ENSP00000384770	Q00888		UPI000034ECBA	NM_002780.4	deleterious(0.03)	benign(0.22)	2/6		Pfam_domain:PF07686;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	GTCGCTTTATG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	A	3	1	69	43203939	43203939	T	A	1	0	0	0	0	1	0	0	0	12808	1609	56	5		5	PSG4	19	43203939	Missense_Mutation	SNP	T	TCGA-WC-A883-01A-12D-A39W-08		43203939	15413677	9	1006											
MATN4	8785	BI	GRCh38	chr20	45298262	45298262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaggcacgttaagggcaCggggccgtgcaccctgcgcc	15	15	0	0	rs150948243	by1000G;byCluster	TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.1457G>A	p.Arg486His	p.R486H	ENST00000372754	7/10	56	16	40	64			MATN4,missense_variant,p.R486H,ENST00000372754,,c.1457G>A,MODERATE,,,probably_damaging(0.909),-1;MATN4,missense_variant,p.R404H,ENST00000360607,NM_030590.3,c.1211G>A,MODERATE,,,probably_damaging(0.921),-1;MATN4,missense_variant,p.R445H,ENST00000372756,NM_003833.4,c.1334G>A,MODERATE,YES,,possibly_damaging(0.852),-1;MATN4,missense_variant,p.R445H,ENST00000537548,,c.1334G>A,MODERATE,,,possibly_damaging(0.852),-1;MATN4,missense_variant,p.R363H,ENST00000353917,NM_030592.3,c.1088G>A,MODERATE,,tolerated(0.55),probably_damaging(0.953),-1	T	ENST00000372754	Transcript	missense_variant	missense_variant	1466/2200	1457/1869	486/622	R/H	cGt/cAt	rs150948243	1		-1	MATN4	HGNC	HGNC:6910	protein_coding			ENSP00000361840	O95460					probably_damaging(0.909)	7/10		Pfam_domain:PF00092;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300	2e-04	0	0.0014		0	0	0	0	5e-04								MODERATE		SNV	5			1	0.0002472	0.0002521	9.929e-05	0.0001737	0	0	0.0004144	0	0		panel_of_normals	GGGCACGGGGC	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e	common_in_exac;gdc_pon	COSM5047886;COSM5047887	True	Unknown	T	3	4	69	45298262	45298262	C	T	1	0	0	0	0	1	0	0	0	9262	536	19	1		1	MATN4	20	45298262	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		45298262	19145905	10	1007											
EMID1	129080	BI	GRCh38	chr22	29225200	29225200	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcggatggcgcttcgGcccacagccttctcaggtgg	15	13	1	0	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.387G>T	p.=	p.R129R	ENST00000334018	4/15	66	37	29	79			EMID1,synonymous_variant,p.R129R,ENST00000334018,NM_001267895.1&NM_133455.3,c.387G>T,LOW,YES,,,1;EMID1,synonymous_variant,p.R129R,ENST00000404820,,c.387G>T,LOW,,,,1;EMID1,synonymous_variant,p.R129R,ENST00000404755,,c.387G>T,LOW,,,,1;EMID1,synonymous_variant,p.R129R,ENST00000429226,,c.387G>T,LOW,,,,1;EMID1,intron_variant,,ENST00000430127,,c.320-1290G>T,MODIFIER,,,,1;EMID1,non_coding_transcript_exon_variant,,ENST00000484039,,n.122G>T,MODIFIER,,,,1;EMID1,intron_variant,,ENST00000435427,,c.102-5820G>T,MODIFIER,,,,1	T	ENST00000334018	Transcript	synonymous_variant	synonymous_variant	575/2173	387/1332	129/443	R	cgG/cgT		1		1	EMID1	HGNC	HGNC:18036	protein_coding	YES	CCDS33630.1	ENSP00000335481	Q96A84		UPI00001A796B	NM_001267895.1;NM_133455.3			4/15																			LOW	1	SNV	1			1											PASS	CTTCGGCCCAC	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	T	2	4	69	29225200	29225200	G	T	1	0	0	0	0	0	0	0	1	4935	1190	42	5		5	EMID1	22	29225200	Silent	SNP	G	TCGA-WC-A883-01A-12D-A39W-08		29225200	21593268	11	1008											
DGKK	139189	BI	GRCh38	chrX	50470357	50470357	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggccggttctggggccggctCtgtggcaggttctggggccg	20	11	3	0	novel		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	c.322G>C	p.Glu108Gln	p.E108Q	ENST00000611977	1/28	198	106	92	299			DGKK,missense_variant,p.E108Q,ENST00000611977,NM_001013742.2,c.322G>C,MODERATE,YES,tolerated_low_confidence(0.12),unknown(0),-1	G	ENST00000611977	Transcript	missense_variant	missense_variant	382/7407	322/3816	108/1271	E/Q	Gag/Cag		1		-1	DGKK	HGNC	HGNC:32395	protein_coding	YES	CCDS75980.1	ENSP00000477515	Q5KSL6		UPI00004BA922	NM_001013742.2	tolerated_low_confidence(0.12)	unknown(0)	1/28		Low_complexity_(Seg):Seg;Prints_domain:PR01217;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CGGCTCTGTGG	e0add685-312f-413d-9f8b-d1960c1e8d6a	d8a41cb9-8142-47b9-b4f2-0e133dc073d9	da0e77ba-9eda-444b-bc96-eb69b73d26d7	a08e4c1d-5d92-43ec-b0b9-87b2286d685e			True	Unknown	G	3	3	69	50470357	50470357	C	G	1	0	0	0	0	1	0	0	0	4278	922	32	5		5	DGKK	23	50470357	Missense_Mutation	SNP	C	TCGA-WC-A883-01A-12D-A39W-08		50470357	105570538	12	1009											
PTCH2	8643	BI	GRCh38	chr1	44827632	44827632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgaggcaccacatccGtcagggccaggccgtcttgc	12	17	2	0	rs777545138	byFrequency	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.2141C>T	p.Thr714Met	p.T714M	ENST00000372192	15/22	82	52	30	69			PTCH2,missense_variant,p.T714M,ENST00000447098,NM_001166292.1,c.2141C>T,MODERATE,,deleterious(0.03),probably_damaging(0.928),-1;PTCH2,missense_variant,p.T714M,ENST00000372192,NM_003738.4,c.2141C>T,MODERATE,YES,deleterious(0.03),benign(0.296),-1;PTCH2,upstream_gene_variant,,ENST00000438067,,,MODIFIER,,,,-1	A	ENST00000372192	Transcript	missense_variant	missense_variant	2272/4225	2141/3612	714/1203	T/M	aCg/aTg	rs777545138	1		-1	PTCH2	HGNC	HGNC:9586	protein_coding	YES	CCDS516.1	ENSP00000361266	Q9Y6C5		UPI00001328B8	NM_003738.4	deleterious(0.03)	benign(0.296)	15/22		Pfam_domain:PF02460;TIGRFAM_domain:TIGR00918																	MODERATE	1	SNV	1			1	3.295e-05	3.327e-05	9.802e-05	8.673e-05	0	0	0	0	0.0001214		PASS	CATCCGTCAGG	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	A	3	1	70	44827632	44827632	G	A	1	0	0	0	0	1	0	0	0	12884	1145	40	1		1	PTCH2	1	44827632	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		44827632	204128790	1	1010											
AMY2A	279	BI	GRCh38	chr1	103623895	103623895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gattgggttgggccaccaaaTaataatggagtaattaaaga	11	4	0	1	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.1131T>A	p.Asn377Lys	p.N377K	ENST00000414303	8/10	270	249	21	579			AMY2A,missense_variant,p.N377K,ENST00000622339,,c.1131T>A,MODERATE,YES,tolerated(0.16),benign(0.331),1;AMY2A,missense_variant,p.N377K,ENST00000414303,NM_000699.2,c.1131T>A,MODERATE,,tolerated(0.16),benign(0.331),1;AMY2A,downstream_gene_variant,,ENST00000423678,,,MODIFIER,,,,1;AMY2A,non_coding_transcript_exon_variant,,ENST00000497748,,n.268T>A,MODIFIER,,,,1	A	ENST00000414303	Transcript	missense_variant	missense_variant	1195/1634	1131/1536	377/511	N/K	aaT/aaA		1		1	AMY2A	HGNC	HGNC:477	protein_coding		CCDS783.1	ENSP00000397582	P04746		UPI0000000C80	NM_000699.2	tolerated(0.16)	benign(0.331)	8/10		SMART_domains:SM00642;Superfamily_domains:SSF51445																	MODERATE		SNV	1			1											PASS	CCAAATAATAA	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			False	Unknown	A	3	1	70	103623895	103623895	T	A	1	0	0	0	0	1	0	0	0	691	1403	49	5		5	AMY2A	1	103623895	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08	58796263	103623895	145332527	2	1011											
UNC13B	10497	BI	GRCh38	chr9	35380594	35380594	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccttggccaaaccatcattGaggttcggaccctaagtggc	10	12	1	1	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.2083G>A	p.Glu695Lys	p.E695K	ENST00000378495	17/39	112	105	7	76			UNC13B,missense_variant,p.E282K,ENST00000617908,,c.844G>A,MODERATE,,deleterious(0),possibly_damaging(0.786),1;UNC13B,missense_variant,p.E695K,ENST00000619578,,c.2083G>A,MODERATE,,deleterious(0),possibly_damaging(0.638),1;UNC13B,missense_variant,p.E695K,ENST00000378495,NM_006377.3,c.2083G>A,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;UNC13B,missense_variant,p.E707K,ENST00000396787,,c.2119G>A,MODERATE,,deleterious(0),benign(0.272),1;UNC13B,missense_variant,p.E282K,ENST00000378496,,c.844G>A,MODERATE,,deleterious(0),possibly_damaging(0.816),1	A	ENST00000378495	Transcript	missense_variant	missense_variant	2305/6303	2083/4776	695/1591	E/K	Gag/Aag		1		1	UNC13B	HGNC	HGNC:12566	protein_coding	YES	CCDS6579.1	ENSP00000367756	O14795		UPI0000211336	NM_006377.3	deleterious(0)	probably_damaging(0.994)	17/39		SMART_domains:SM00239;Superfamily_domains:SSF49562																	MODERATE	1	SNV	1			1											PASS	TCATTGAGGTT	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	A	3	1	70	35380594	35380594	G	A	1	0	0	0	0	1	0	0	0	17509	1291	45	3		3	UNC13B	9	35380594	Missense_Mutation	SNP	G	TCGA-WC-A884-01A-11D-A39W-08		35380594	103014123	3	1012											
TMEM179B	374395	BI	GRCh38	chr11	62789939	62789939	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggtcttggtgctccaggtCgtgcagtggaagtctgaagc	16	8	2	1	rs149169067	byCluster	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.552C>T	p.=	p.V184V	ENST00000333449	5/5	169	159	10	138			TMEM179B,synonymous_variant,p.V184V,ENST00000333449,NM_199337.2,c.552C>T,LOW,YES,,,1;TMEM179B,3_prime_UTR_variant,,ENST00000533861,,c.*38C>T,MODIFIER,,,,1;TMEM223,intron_variant,,ENST00000528367,,c.314+1740G>A,MODIFIER,,,,-1;TMEM223,intron_variant,,ENST00000525631,,c.316+1740G>A,MODIFIER,,,,-1;NXF1,downstream_gene_variant,,ENST00000531709,NM_001081491.1,,MODIFIER,,,,-1;NXF1,downstream_gene_variant,,ENST00000532297,,,MODIFIER,YES,,,-1;NXF1,downstream_gene_variant,,ENST00000294172,NM_006362.4,,MODIFIER,,,,-1;TAF6L,downstream_gene_variant,,ENST00000294168,NM_006473.3,,MODIFIER,YES,,,1;NXF1,downstream_gene_variant,,ENST00000530875,,,MODIFIER,,,,-1;TMEM223,downstream_gene_variant,,ENST00000307366,NM_001080501.2,,MODIFIER,YES,,,-1;NXF1,downstream_gene_variant,,ENST00000527902,,,MODIFIER,,,,-1;TMEM179B,downstream_gene_variant,,ENST00000526546,,,MODIFIER,,,,1;MIR6748,downstream_gene_variant,,ENST00000610433,,,MODIFIER,YES,,,1;MIR6514,downstream_gene_variant,,ENST00000622549,,,MODIFIER,YES,,,-1;RP11-727F15.12,upstream_gene_variant,,ENST00000601484,,,MODIFIER,YES,,,-1;TMEM223,intron_variant,,ENST00000527073,,n.65+1740G>A,MODIFIER,,,,-1;NXF1,downstream_gene_variant,,ENST00000533048,,,MODIFIER,,,,-1;TMEM179B,non_coding_transcript_exon_variant,,ENST00000532345,,n.674C>T,MODIFIER,,,,1;TMEM179B,non_coding_transcript_exon_variant,,ENST00000532586,,n.611C>T,MODIFIER,,,,1;NXF1,downstream_gene_variant,,ENST00000533499,,,MODIFIER,,,,-1;NXF1,downstream_gene_variant,,ENST00000533440,,,MODIFIER,,,,-1;NXF1,downstream_gene_variant,,ENST00000527497,,,MODIFIER,,,,-1	T	ENST00000333449	Transcript	synonymous_variant	synonymous_variant	557/1023	552/660	184/219	V	gtC/gtT	rs149169067	1		1	TMEM179B	HGNC	HGNC:33744	protein_coding	YES	CCDS8036.1	ENSP00000333697	Q7Z7N9		UPI000019AB69	NM_199337.2			5/5		Low_complexity_(Seg):Seg								0	2e-04								LOW	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	3e-05	0	0		PASS	CAGGTCGTGCA	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d		COSM4034896	True	Unknown	T	2	4	70	62789939	62789939	C	T	1	0	0	0	0	0	0	0	1	16542	871	31	2		2	TMEM179B	11	62789939	Silent	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		62789939	72296683	4	1013											
BEST3	144453	BI	GRCh38	chr12	69693761	69693761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagggaggtgagattgaCgtagcgcatcagcgtccttc	15	9	1	2	rs117505973	by1000G;byCluster	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.394G>A	p.Val132Ile	p.V132I	ENST00000330891	4/10	77	54	23	63			BEST3,missense_variant,p.V132I,ENST00000330891,NM_032735.2,c.394G>A,MODERATE,YES,tolerated(0.13),benign(0.252),-1;BEST3,missense_variant,p.V26I,ENST00000553096,NM_001282613.1,c.76G>A,MODERATE,,tolerated(0.12),benign(0.252),-1;BEST3,missense_variant,p.V26I,ENST00000266661,NM_001282615.1,c.76G>A,MODERATE,,tolerated(0.2),benign(0.054),-1;BEST3,missense_variant,p.V132I,ENST00000331471,NM_001282614.1,c.394G>A,MODERATE,,tolerated(0.13),benign(0.018),-1;BEST3,missense_variant,p.V26I,ENST00000551160,NM_001282616.1,c.76G>A,MODERATE,,tolerated(0.2),benign(0.054),-1;BEST3,missense_variant,p.V26I,ENST00000552295,,c.76G>A,MODERATE,,tolerated(0.33),benign(0.008),-1;BEST3,5_prime_UTR_variant,,ENST00000476098,,c.-38G>A,MODIFIER,,,,-1;BEST3,intron_variant,,ENST00000548658,,c.247+609G>A,MODIFIER,,,,-1;BEST3,upstream_gene_variant,,ENST00000488961,NM_152439.3,,MODIFIER,,,,-1;BEST3,non_coding_transcript_exon_variant,,ENST00000533674,,n.382G>A,MODIFIER,,,,-1;BEST3,upstream_gene_variant,,ENST00000529843,,,MODIFIER,,,,-1;BEST3,missense_variant,p.V4I,ENST00000547208,,c.10G>A,MODERATE,,tolerated(0.48),benign(0.018),-1	T	ENST00000330891	Transcript	missense_variant	missense_variant	621/3532	394/2007	132/668	V/I	Gtc/Atc	rs117505973	1		-1	BEST3	HGNC	HGNC:17105	protein_coding	YES	CCDS8992.2	ENSP00000332413	Q8N1M1		UPI000006E397	NM_032735.2	tolerated(0.13)	benign(0.252)	4/10		Pfam_domain:PF01062	2e-04	0	0		0	0.001	0	0	1e-04								MODERATE	1	SNV	5			1	5.765e-05	5.768e-05	0	0	0	0	0.0001049	0	0		PASS	ATTGACGTAGC	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	T	3	4	70	69693761	69693761	C	T	1	0	0	0	0	1	0	0	0	1554	536	19	1		1	BEST3	12	69693761	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		69693761	63581548	5	1014											
CUX2	23316	BI	GRCh38	chr12	111310577	111310577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcccggcccaagccctggCgcaagctcacggtgaagggc	14	15	1	1	rs200707164	byCluster	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.1795C>T	p.Arg599Cys	p.R599C	ENST00000261726	15/22	91	79	12	66			CUX2,missense_variant,p.R599C,ENST00000261726,NM_015267.3,c.1795C>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),1	T	ENST00000261726	Transcript	missense_variant	missense_variant	1949/6844	1795/4461	599/1486	R/C	Cgc/Tgc	rs200707164	1		1	CUX2	HGNC	HGNC:19347	protein_coding	YES	CCDS41837.1	ENSP00000261726	O14529		UPI00001FBB07	NM_015267.3	deleterious(0)	probably_damaging(0.993)	15/22		Pfam_domain:PF02376;PROSITE_profiles:PS51042;Superfamily_domains:SSF47413																	MODERATE	1	SNV	1			1	4.133e-05	4.193e-05	0	8.667e-05	0.0004674	0	0	0	0		PASS	CCTGGCGCAAG	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d	common_in_exac		True	Unknown	T	3	4	70	111310577	111310577	C	T	1	0	0	0	0	1	0	0	0	3875	768	27	2		2	CUX2	12	111310577	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	41616816	111310577	21964732	6	1015											
RPL36AL	6166	BI	GRCh38	chr14	49618915	49618915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagccttagcacaatcttctTtgtggtcttagccttcttcc	6	13	4	0	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.190A>G	p.Lys64Glu	p.K64E	ENST00000298289	2/2	189	159	30	147			RPL36AL,missense_variant,p.K64E,ENST00000298289,NM_001001.4,c.190A>G,MODERATE,YES,tolerated(0.06),probably_damaging(0.93),-1;MGAT2,upstream_gene_variant,,ENST00000305386,NM_002408.3,,MODIFIER,YES,,,1;LRR1,downstream_gene_variant,,ENST00000298288,NM_152329.3,,MODIFIER,YES,,,1;LRR1,downstream_gene_variant,,ENST00000318317,NM_203467.1,,MODIFIER,,,,1;RP11-649E7.5,downstream_gene_variant,,ENST00000555043,,,MODIFIER,YES,,,-1;LRR1,downstream_gene_variant,,ENST00000554869,,,MODIFIER,,,,1;LRR1,downstream_gene_variant,,ENST00000540712,,,MODIFIER,,,,1	C	ENST00000298289	Transcript	missense_variant	missense_variant	350/746	190/321	64/106	K/E	Aag/Gag		1		-1	RPL36AL	HGNC	HGNC:10346	protein_coding	YES	CCDS9689.1	ENSP00000346012	Q969Q0		UPI000000D720	NM_001001.4	tolerated(0.06)	probably_damaging(0.93)	2/2		Pfam_domain:PF00935;Superfamily_domains:SSF57829																	MODERATE	1	SNV	1			1											PASS	CTTCTTTGTGG	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	C	3	2	70	49618915	49618915	T	C	1	0	0	0	0	1	0	0	0	13841	1850	64	4		4	RPL36AL	14	49618915	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08		49618915	57424803	7	1016											
KRT39	390792	BI	GRCh38	chr17	40964508	40964509	+	In_Frame_Ins	INS	-	-	CCCCCAGCTCTCCCCTCGGGAGGGCTCAAGGAG													gcgagaccagtctggaattcINStcggccttggtacacaagat					novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.488_489insCTCCTTGAGCCCTCCCGAGGGGAGAGCTGGGGG	p.Glu163delinsAspSerLeuSerProProGluGlyArgAlaGlyGly	p.E163delinsDSLSPPEGRAGG	ENST00000355612	2/7	219	179	40	164			KRT39,protein_altering_variant,p.E163delinsDSLSPPEGRAGG,ENST00000355612,NM_213656.3,c.488_489insCTCCTTGAGCCCTCCCGAGGGGAGAGCTGGGGG,MODERATE,YES,,,-1;AC004231.2,intron_variant,,ENST00000418393,,n.386-10989_386-10988insCCCCCAGCTCTCCCCTCGGGAGGGCTCAAGGAG,MODIFIER,YES,,,1;KRT39,protein_altering_variant,p.E163delinsDSLSPPEGRAGG,ENST00000578078,,c.488_489insCTCCTTGAGCCCTCCCGAGGGGAGAGCTGGGGG,MODERATE,,,,-1;KRT39,upstream_gene_variant,,ENST00000578029,,,MODIFIER,,,,-1	CCCCCAGCTCTCCCCTCGGGAGGGCTCAAGGAG	ENST00000355612	Transcript	protein_altering_variant	protein_altering_variant	524-525/1696	488-489/1476	163/491	E/DSLSPPEGRAGG	gag/gaCTCCTTGAGCCCTCCCGAGGGGAGAGCTGGGGGg		1		-1	KRT39	HGNC	HGNC:32971	protein_coding	YES	CCDS11382.1	ENSP00000347823	Q6A163		UPI0000237913	NM_213656.3			2/7		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00038																	MODERATE	1	insertion	1			1											PASS	GAATTCTCGGC	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			False	Unknown	CCCCCAGCTCTCCCCTCGGGAGGGCTCAAGGAG	7	5	70	40964508	40964508	-	CCCCCAGCTCTCCCCTCGGGAGGGCTCAAGGAG	1	0	1	1	0	0	0	0	0	8358	912	32	0		0	KRT39	17	40964508	In_Frame_Ins	INS	-	TCGA-WC-A884-01A-11D-A39W-08		40964508	42292933	8	1017											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	60	31	29	64			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d		COSM52969	True	Unknown	T	3	4	70	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A884-01A-11D-A39W-08		3118944	55498672	9	1018											
DOCK6	57572	BI	GRCh38	chr19	11222247	11222247	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttggctggagaaggtggagCtctgcagagtgggggaaaaa	18	5	1	2	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.3242G>T	p.Ser1081Ile	p.S1081I	ENST00000294618	27/48	13	11	2	11			DOCK6,missense_variant,p.S1081I,ENST00000294618,NM_020812.3,c.3242G>T,MODERATE,YES,deleterious(0.04),benign(0.086),-1;DOCK6,missense_variant,p.S370I,ENST00000587656,,c.1107G>T,MODERATE,,deleterious(0.04),possibly_damaging(0.854),-1;CTC-510F12.7,downstream_gene_variant,,ENST00000615848,,,MODIFIER,YES,,,1;DOCK6,non_coding_transcript_exon_variant,,ENST00000592550,,n.78G>T,MODIFIER,,,,-1;DOCK6,upstream_gene_variant,,ENST00000588429,,,MODIFIER,,,,-1;DOCK6,upstream_gene_variant,,ENST00000592403,,,MODIFIER,,,,-1	A	ENST00000294618	Transcript	missense_variant	missense_variant;splice_region_variant	3254/6358	3242/6144	1081/2047	S/I	aGc/aTc		1		-1	DOCK6	HGNC	HGNC:19189	protein_coding	YES	CCDS45975.1	ENSP00000294618	Q96HP0		UPI000059D66F	NM_020812.3	deleterious(0.04)	benign(0.086)	27/48		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	TGGAGCTCTGC	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			False	Unknown	A	3	1	70	11222247	11222247	C	A	1	0	0	0	0	1	0	0	0	4506	811	28	5		5	DOCK6	19	11222247	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08	8103303	11222247	47395369	10	1019											
EIF1AX	1964	BI	GRCh38	chrX	20138617	20138617	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtctgtttttacctcCtttacctgatggtttaaaaa	6	10	1	1	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.22G>C	p.Gly8Arg	p.G8R	ENST00000379607	2/7	77	41	36	133			EIF1AX,missense_variant,p.G8R,ENST00000379607,NM_001412.3,c.22G>C,MODERATE,YES,deleterious(0.03),unknown(0),-1;EIF1AX,intron_variant,,ENST00000379593,,c.17-2776G>C,MODIFIER,,,,-1;snoU2_19,upstream_gene_variant,,ENST00000364722,,,MODIFIER,YES,,,-1;snoU2-30,upstream_gene_variant,,ENST00000365012,,,MODIFIER,YES,,,-1;EIF1AX-AS1,upstream_gene_variant,,ENST00000424026,,,MODIFIER,YES,,,1	G	ENST00000379607	Transcript	missense_variant	missense_variant	226/4427	22/435	8/144	G/R	Gga/Cga		1		-1	EIF1AX	HGNC	HGNC:3250	protein_coding	YES	CCDS14196.1	ENSP00000368927	P47813		UPI00000041DF	NM_001412.3	deleterious(0.03)	unknown(0)	2/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF50249																	MODERATE	1	SNV	1			1											PASS	ACCTCCTTTAC	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	G	3	3	70	20138617	20138617	C	G	1	0	0	0	0	1	0	0	0	4828	695	24	5		5	EIF1AX	23	20138617	Missense_Mutation	SNP	C	TCGA-WC-A884-01A-11D-A39W-08		20138617	135902278	11	1020											
FAM47A	158724	BI	GRCh38	chrX	34130460	34130460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaattcacggagttTttccgatgtgtatctatatt	8	6	2	2	novel		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	c.1819A>G	p.Lys607Glu	p.K607E	ENST00000346193	1/1	73	38	35	71			FAM47A,missense_variant,p.K607E,ENST00000346193,NM_203408.3,c.1819A>G,MODERATE,YES,tolerated(0.05),probably_damaging(0.953),-1;FAM47A,missense_variant,p.K594E,ENST00000613251,,c.1780A>G,MODERATE,,tolerated(0.06),probably_damaging(0.942),-1	C	ENST00000346193	Transcript	missense_variant	missense_variant	1852/2556	1819/2376	607/791	K/E	Aaa/Gaa		1		-1	FAM47A	HGNC	HGNC:29962	protein_coding	YES	CCDS43926.1	ENSP00000345029	Q5JRC9		UPI000013F1F4	NM_203408.3	tolerated(0.05)	probably_damaging(0.953)	1/1																			MODERATE	1	SNV				1											PASS	GAGTTTTTCCG	dca1a797-6624-461e-ae9a-b543b062fea5	be124f8b-d356-43e8-b956-cc286d67519f	b274c4c1-932e-4c7f-a39a-7f6800c30353	a83802da-0219-4cf1-9560-16295363491d			True	Unknown	C	3	2	70	34130460	34130460	T	C	1	0	0	0	0	1	0	0	0	5447	1850	64	4		4	FAM47A	23	34130460	Missense_Mutation	SNP	T	TCGA-WC-A884-01A-11D-A39W-08	13991843	34130460	121910435	12	1021											
RTCA	8634	BI	GRCh38	chr1	100275714	100275714	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcatttggcaatggaaAtggaataatgtgagacaata	10	5	0	1	rs767927227		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.731A>G	p.Asn244Ser	p.N244S	ENST00000370128	7/11	92	48	44	102			RTCA,missense_variant,p.N244S,ENST00000370128,NM_003729.3,c.731A>G,MODERATE,,tolerated(1),benign(0.001),1;RTCA,missense_variant,p.N257S,ENST00000260563,NM_001130841.1,c.770A>G,MODERATE,YES,tolerated(1),benign(0),1;RTCA,downstream_gene_variant,,ENST00000498617,,,MODIFIER,,,,1;RTCA,downstream_gene_variant,,ENST00000483474,,,MODIFIER,,,,1	G	ENST00000370128	Transcript	missense_variant	missense_variant	900/2535	731/1101	244/366	N/S	aAt/aGt	rs767927227	1		1	RTCA	HGNC	HGNC:17981	protein_coding		CCDS768.1	ENSP00000359146	O00442		UPI00001352BF	NM_003729.3	tolerated(1)	benign(0.001)	7/11		Low_complexity_(Seg):Seg;Pfam_domain:PF01137;Pfam_domain:PF05189;TIGRFAM_domain:TIGR03399;Superfamily_domains:SSF52913																	MODERATE		SNV	1			1	8.236e-06	8.24e-06	9.615e-05	0	0	0	0	0	0		PASS	TGGAAATGGAA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	G	3	3	71	100275714	100275714	A	G	1	0	0	0	0	1	0	0	0	13977	101	4	4		4	RTCA	1	100275714	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08		100275714	148680708	1	1022											
ESRRG	2104	BI	GRCh38	chr1	216519271	216519271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagaaggcctgctaatTtggactggtcttcgtccatt	10	9	2	1	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1013A>G	p.Lys338Arg	p.K338R	ENST00000408911	6/7	87	46	41	71			ESRRG,missense_variant,p.K315R,ENST00000391890,NM_001243519.1&NM_001243515.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000360012,NM_001243514.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K350R,ENST00000366937,NM_001243518.1,c.1049A>G,MODERATE,YES,tolerated(1),benign(0.003),-1;ESRRG,missense_variant,p.K315R,ENST00000361525,NM_206594.2,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000366940,NM_001134285.2,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000493603,,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000366938,NM_001243513.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000361395,NM_001243510.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K338R,ENST00000408911,NM_001438.3,c.1013A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000359162,NM_001243511.1&NM_001243506.1&NM_206595.2,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000616180,,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K276R,ENST00000463665,NM_001243507.1,c.827A>G,MODERATE,,tolerated(1),benign(0.002),-1;ESRRG,missense_variant,p.K315R,ENST00000487276,NM_001243512.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000493748,NM_001243509.1,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1;ESRRG,missense_variant,p.K315R,ENST00000475275,,c.944A>G,MODERATE,,tolerated(1),benign(0.001),-1	C	ENST00000408911	Transcript	missense_variant	missense_variant	1167/5216	1013/1377	338/458	K/R	aAa/aGa		1		-1	ESRRG	HGNC	HGNC:3474	protein_coding		CCDS41468.1	ENSP00000386171	P62508	F1D8R5	UPI00000272E7	NM_001438.3	tolerated(1)	benign(0.001)	6/7		Pfam_domain:PF00104;SMART_domains:SM00430;Superfamily_domains:SSF48508																	MODERATE		SNV	1			1											PASS	CTAATTTGGAC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	C	3	2	71	216519271	216519271	T	C	1	0	0	0	0	1	0	0	0	5124	1841	64	4		4	ESRRG	1	216519271	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08	116243557	216519271	32437151	2	1023											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	48	28	20	56			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f		COSM255276	True	Unknown	T	3	4	71	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		197402759	44790770	3	1024											
FAM198B	51313	BI	GRCh38	chr4	158155671	158155671	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgtatttcagtacaAcccgattcaggcttgggtac	10	8	2	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1065T>C	p.=	p.G355G	ENST00000296530	3/5	64	35	29	70			FAM198B,synonymous_variant,p.G355G,ENST00000296530,NM_016613.6,c.1065T>C,LOW,,,,-1;FAM198B,synonymous_variant,p.G355G,ENST00000585682,NM_001128424.1,c.1065T>C,LOW,,,,-1;FAM198B,synonymous_variant,p.G363G,ENST00000393807,NM_001031700.2,c.1089T>C,LOW,YES,,,-1;FAM198B,synonymous_variant,p.G61G,ENST00000590648,,c.183T>C,LOW,,,,-1;FAM198B,synonymous_variant,p.G96G,ENST00000593260,,c.287T>C,LOW,,,,-1;FAM198B,5_prime_UTR_variant,,ENST00000592586,,c.-34T>C,MODIFIER,,,,-1;FAM198B,non_coding_transcript_exon_variant,,ENST00000589306,,n.311T>C,MODIFIER,,,,-1	G	ENST00000296530	Transcript	synonymous_variant	synonymous_variant	1687/4985	1065/1560	355/519	G	ggT/ggC		1		-1	FAM198B	HGNC	HGNC:25312	protein_coding		CCDS3798.1	ENSP00000296530	Q6UWH4		UPI000004C63B	NM_016613.6			3/5																			LOW		SNV	1			1											PASS	GTACAACCCGA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	G	2	3	71	158155671	158155671	A	G	1	0	0	0	0	0	0	0	1	5376	30	2	4		4	FAM198B	4	158155671	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08		158155671	32058884	4	1025											
PCDHA12	56137	BI	GRCh38	chr5	140876166	140876166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccagattcaaataaccGtcctggatgtgaatgacaat	8	9	1	3	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.694G>A	p.Val232Ile	p.V232I	ENST00000398631	1/4	43	40	3	60			PCDHA12,missense_variant,p.V232I,ENST00000398631,NM_018903.3,c.694G>A,MODERATE,YES,tolerated_low_confidence(0.11),benign(0.276),1;PCDHA12,missense_variant,p.V232I,ENST00000613593,NM_031864.2,c.694G>A,MODERATE,,tolerated_low_confidence(0.18),benign(0.278),1;PCDHA9,intron_variant,,ENST00000532602,NM_031857.1,c.2394+25277G>A,MODIFIER,YES,,,1;PCDHA11,intron_variant,,ENST00000398640,NM_018902.4,c.2391+4672G>A,MODIFIER,YES,,,1;PCDHA6,intron_variant,,ENST00000529310,NM_018909.3,c.2394+45681G>A,MODIFIER,YES,,,1;PCDHA1,intron_variant,,ENST00000504120,NM_018900.3,c.2394+87482G>A,MODIFIER,YES,,,1;PCDHA3,intron_variant,,ENST00000522353,NM_018906.2,c.2394+72575G>A,MODIFIER,YES,,,1;PCDHA8,intron_variant,,ENST00000531613,NM_018911.2,c.2394+32451G>A,MODIFIER,YES,,,1;PCDHA10,intron_variant,,ENST00000307360,NM_018901.3,c.2388+17730G>A,MODIFIER,YES,,,1;PCDHA2,intron_variant,,ENST00000526136,NM_018905.2,c.2388+78814G>A,MODIFIER,YES,,,1;PCDHA4,intron_variant,,ENST00000530339,NM_018907.3,c.2385+66594G>A,MODIFIER,YES,,,1;PCDHA7,intron_variant,,ENST00000525929,NM_018910.2,c.2355+39428G>A,MODIFIER,YES,,,1;PCDHA5,intron_variant,,ENST00000529859,NM_018908.2,c.2352+52039G>A,MODIFIER,YES,,,1;PCDHA4,intron_variant,,ENST00000512229,,c.2385+66594G>A,MODIFIER,,,,1;PCDHA5,intron_variant,,ENST00000529619,,c.2352+52039G>A,MODIFIER,,,,1;PCDHA10,intron_variant,,ENST00000506939,NM_031860.2,c.1599+18519G>A,MODIFIER,,,,1;PCDHA6,intron_variant,,ENST00000527624,NM_031849.2,c.1602+46473G>A,MODIFIER,,,,1;PCDHA1,intron_variant,,ENST00000394633,NM_031411.2,c.1602+88274G>A,MODIFIER,,,,1;PCDHA11,intron_variant,,ENST00000617408,,c.277+4672G>A,MODIFIER,,,,1;PCDHA11,downstream_gene_variant,,ENST00000616325,NM_031861.2,,MODIFIER,,,,1;AC005609.17,downstream_gene_variant,,ENST00000625195,,,MODIFIER,YES,,,-1;AC005609.18,upstream_gene_variant,,ENST00000624566,,,MODIFIER,YES,,,-1	A	ENST00000398631	Transcript	missense_variant	missense_variant	694/5233	694/2826	232/941	V/I	Gtc/Atc		1		1	PCDHA12	HGNC	HGNC:8666	protein_coding	YES	CCDS47285.1	ENSP00000381628	Q9UN75		UPI00001273D5	NM_018903.3	tolerated_low_confidence(0.11)	benign(0.276)	1/4		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	TAACCGTCCTG	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			False	Unknown	A	3	1	71	140876166	140876166	G	A	1	0	0	0	0	1	0	0	0	11609	1145	40	1		1	PCDHA12	5	140876166	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		140876166	40662093	5	1026											
ATXN1	6310	BI	GRCh38	chr6	16327027	16327027	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaatgaccgtgtggggtgaGagcgcgtaggaccggtggcc	19	8	0	3	rs745328393	byFrequency	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1284C>G	p.=	p.L428L	ENST00000244769	8/9	204	154	50	164			ATXN1,synonymous_variant,p.L428L,ENST00000244769,NM_000332.3,c.1284C>G,LOW,YES,,,-1;ATXN1,synonymous_variant,p.L428L,ENST00000436367,NM_001128164.1,c.1284C>G,LOW,,,,-1	C	ENST00000244769	Transcript	synonymous_variant	synonymous_variant	2221/10602	1284/2448	428/815	L	ctC/ctG	rs745328393	1		-1	ATXN1	HGNC	HGNC:10548	protein_coding	YES	CCDS34342.1	ENSP00000244769	P54253		UPI000013CB8B	NM_000332.3			8/9		Pfam_domain:PF12547																	LOW	1	SNV	1			1	4.118e-05	4.12e-05	0.0003848	8.639e-05	0	0	0	0	0		PASS	GGTGAGAGCGC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f		COSM5357838	True	Unknown	C	2	2	71	16327027	16327027	G	C	1	0	0	0	0	0	0	0	1	1362	929	33	5		5	ATXN1	6	16327027	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		16327027	154478952	6	1027											
TRIM15	89870	BI	GRCh38	chr6	30167265	30167265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaccagaagcttcaagtGctgctggtacaggccacgtc	12	11	1	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.471G>A	p.=	p.V157V	ENST00000376694	2/7	153	48	105	72			TRIM15,synonymous_variant,p.V88V,ENST00000619857,,c.264G>A,LOW,,,,1;TRIM15,synonymous_variant,p.V157V,ENST00000376694,NM_033229.2,c.471G>A,LOW,YES,,,1;TRIM15,intron_variant,,ENST00000376688,,c.304+3277G>A,MODIFIER,,,,1;TRIM15,upstream_gene_variant,,ENST00000433744,,,MODIFIER,,,,1;TRIM15,upstream_gene_variant,,ENST00000477944,,,MODIFIER,,,,1	A	ENST00000376694	Transcript	synonymous_variant	synonymous_variant	940/2214	471/1398	157/465	V	gtG/gtA		1		1	TRIM15	HGNC	HGNC:16284	protein_coding	YES	CCDS4677.1	ENSP00000365884	Q9C019	Q5SRL0	UPI0000137066	NM_033229.2			2/7																			LOW	1	SNV	1			1											PASS	CAAGTGCTGCT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	2	1	71	30167265	30167265	G	A	1	0	0	0	0	0	0	0	1	16979	1306	46	3		3	TRIM15	6	30167265	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	13840238	30167265	140638714	7	1028											
TRERF1	55809	BI	GRCh38	chr6	42228458	42228458	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caactgctggacgacgtcgtCgtcgaggatgtccacatcct	11	13	0	0	rs762778385	byCluster;byFrequency	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.3490G>A	p.Asp1164Asn	p.D1164N	ENST00000372922	18/18	231	171	60	155			TRERF1,missense_variant,p.D1184N,ENST00000541110,NM_001297573.1,c.3550G>A,MODERATE,YES,tolerated_low_confidence(0.14),possibly_damaging(0.555),-1;TRERF1,missense_variant,p.D1164N,ENST00000372922,NM_033502.2,c.3490G>A,MODERATE,,tolerated_low_confidence(0.14),possibly_damaging(0.555),-1;TRERF1,missense_variant,p.D1093N,ENST00000340840,,c.3277G>A,MODERATE,,tolerated_low_confidence(0.06),possibly_damaging(0.741),-1;TRERF1,missense_variant,p.D1081N,ENST00000354325,,c.3241G>A,MODERATE,,tolerated_low_confidence(0.06),possibly_damaging(0.741),-1;TRERF1,missense_variant,p.D920N,ENST00000372917,,c.2758G>A,MODERATE,,tolerated_low_confidence(0.06),possibly_damaging(0.741),-1	T	ENST00000372922	Transcript	missense_variant	missense_variant	4053/7286	3490/3603	1164/1200	D/N	Gac/Aac	rs762778385	1		-1	TRERF1	HGNC	HGNC:18273	protein_coding		CCDS4867.1	ENSP00000362013	Q96PN7		UPI0000052952	NM_033502.2	tolerated_low_confidence(0.14)	possibly_damaging(0.555)	18/18		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1	1.647e-05	1.647e-05	0	0	0	0	0	0	0.0001211		PASS	GTCGTCGTCGA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f		COSM4947548;COSM4947549;COSM76808	True	Unknown	T	3	4	71	42228458	42228458	C	T	1	0	0	0	0	1	0	0	0	16964	884	31	2		2	TRERF1	6	42228458	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	12061193	42228458	128577521	8	1029											
AMZ1	155185	BI	GRCh38	chr7	2700623	2700623	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agaggacgctcttctgcaccCtgctcatccgcacgggcttc	10	16	3	1	rs754107925		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.172C>G	p.Leu58Val	p.L58V	ENST00000312371	2/7	113	53	60	173			AMZ1,missense_variant,p.L58V,ENST00000312371,NM_133463.2,c.172C>G,MODERATE,YES,deleterious(0.01),possibly_damaging(0.607),1;AMZ1,missense_variant,p.L58V,ENST00000407112,NM_001284355.1,c.172C>G,MODERATE,,deleterious(0.02),probably_damaging(0.94),1;AMZ1,upstream_gene_variant,,ENST00000489665,,,MODIFIER,,,,1;AMZ1,upstream_gene_variant,,ENST00000485540,,,MODIFIER,,,,1;AMZ1,upstream_gene_variant,,ENST00000480560,,,MODIFIER,,,,1	G	ENST00000312371	Transcript	missense_variant	missense_variant	540/5516	172/1497	58/498	L/V	Ctg/Gtg	rs754107925	1		1	AMZ1	HGNC	HGNC:22231	protein_coding	YES	CCDS34589.1	ENSP00000308149	Q400G9	A4D202	UPI00001C1E77	NM_133463.2	deleterious(0.01)	possibly_damaging(0.607)	2/7																			MODERATE	1	SNV	1			1	8.237e-06	8.279e-06	9.666e-05	0	0	0	0	0	0		panel_of_normals	GCACCCTGCTC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f	gdc_pon		True	Unknown	G	3	3	71	2700623	2700623	C	G	1	0	0	0	0	1	0	0	0	693	680	24	5		5	AMZ1	7	2700623	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		2700623	156645350	9	1030											
ZAN	7455	BI	GRCh38	chr7	100787915	100787915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacaatgctcagtctatggcGacccccgttacctcacattt	6	14	3	0	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.7006G>A	p.Asp2336Asn	p.D2336N	ENST00000613979	38/48	25	21	4	29			ZAN,missense_variant,p.D2336N,ENST00000613979,NM_003386.1,c.7006G>A,MODERATE,YES,,benign(0.006),1;ZAN,missense_variant,p.D2336N,ENST00000618565,,c.7006G>A,MODERATE,,,benign(0.006),1;ZAN,missense_variant,p.D2336N,ENST00000620596,NM_173059.1,c.7006G>A,MODERATE,,,probably_damaging(0.987),1;ZAN,missense_variant,p.D2336N,ENST00000546292,,c.7006G>A,MODERATE,,,probably_damaging(0.987),1;ZAN,missense_variant,p.D2336N,ENST00000542585,,c.7006G>A,MODERATE,,,benign(0.202),1;ZAN,missense_variant,p.D2336N,ENST00000538115,,c.7006G>A,MODERATE,,deleterious(0.04),benign(0.081),1;ZAN,missense_variant,p.D2336N,ENST00000546213,,c.7006G>A,MODERATE,,deleterious(0.04),probably_damaging(0.922),1;ZAN,non_coding_transcript_exon_variant,,ENST00000620868,,n.7171G>A,MODIFIER,,,,1	A	ENST00000613979	Transcript	missense_variant	missense_variant	7171/8669	7006/8439	2336/2812	D/N	Gac/Aac		1		1	ZAN	HGNC	HGNC:12857	protein_coding	YES		ENSP00000480750		A0A087WU49	UPI000441C79E	NM_003386.1		benign(0.006)	38/48		Pfam_domain:PF00094;SMART_domains:SM00215;SMART_domains:SM00216																	MODERATE	1	SNV	1			1											PASS	ATGGCGACCCC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			False	Unknown	A	3	1	71	100787915	100787915	G	A	1	0	0	0	0	1	0	0	0	18074	1058	37	2		2	ZAN	7	100787915	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	98087292	100787915	58558058	10	1031											
DNAJB6	10049	BI	GRCh38	chr7	157384946	157384962	+	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	CAACTTCAAATCGATAT	-													tttggtggtagtggcatgggCaacttcaaatcgatatcaac					novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.567_583delATCGATATCAACTTCAA	p.Lys189AsnfsTer2	p.K189Nfs*2	ENST00000262177	7/10	95	63	32	160			DNAJB6,frameshift_variant,p.K189Nfs*2,ENST00000262177,NM_058246.3,c.567_583delATCGATATCAACTTCAA,HIGH,YES,,,1;DNAJB6,frameshift_variant,p.K189Nfs*2,ENST00000429029,NM_005494.2,c.567_583delATCGATATCAACTTCAA,HIGH,,,,1;DNAJB6,frameshift_variant,p.K189Nfs*2,ENST00000417758,,c.567_583delATCGATATCAACTTCAA,HIGH,,,,1;DNAJB6,intron_variant,,ENST00000443280,,c.346+17472_346+17488delATCGATATCAACTTCAA,MODIFIER,,,,1;DNAJB6,downstream_gene_variant,,ENST00000441561,,,MODIFIER,,,,1;DNAJB6,downstream_gene_variant,,ENST00000412557,,,MODIFIER,,,,1;DNAJB6,non_coding_transcript_exon_variant,,ENST00000465908,,n.363_379delATCGATATCAACTTCAA,MODIFIER,,,,1;DNAJB6,non_coding_transcript_exon_variant,,ENST00000459889,,n.715_731delATCGATATCAACTTCAA,MODIFIER,,,,1;DNAJB6,non_coding_transcript_exon_variant,,ENST00000487480,,n.4342_4358delATCGATATCAACTTCAA,MODIFIER,,,,1;DNAJB6,non_coding_transcript_exon_variant,,ENST00000468928,,n.868_884delTCAAATCGATATCAACT,MODIFIER,,,,1;DNAJB6,downstream_gene_variant,,ENST00000486247,,,MODIFIER,,,,1;DNAJB6,downstream_gene_variant,,ENST00000441291,,,MODIFIER,,,,1	-	ENST00000262177	Transcript	frameshift_variant	frameshift_variant	763-779/2527	558-574/981	186-192/326	GNFKSIS/GX	ggCAACTTCAAATCGATATca/ggca		1		1	DNAJB6	HGNC	HGNC:14888	protein_coding	YES	CCDS5946.1	ENSP00000262177	O75190		UPI0000129436	NM_058246.3			7/10																			HIGH	1	deletion	1	9		1											PASS	CATGGGCAACTTCAAATCGATATCAACT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	-	7	5	71	157384946	157384946	CAACTTCAAATCGATAT	-	1	0	1	0	1	0	0	0	0	4438	697	25	0		0	DNAJB6	7	157384946	Frame_Shift_Del	DEL	CAACTTCAAATCGATAT	TCGA-WC-A885-01A-11D-A39W-08	56597031	157384946	1961027	11	1032											
ADHFE1	137872	BI	GRCh38	chr8	66445282	66445282	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctatgttgctgtcggtggtGgctctaccatggacacctgt	12	11	1	0	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.418G>C	p.Gly140Arg	p.G140R	ENST00000396623	6/14	89	83	6	97			ADHFE1,missense_variant,p.G140R,ENST00000396623,NM_144650.2,c.418G>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;ADHFE1,missense_variant,p.G92R,ENST00000415254,,c.274G>C,MODERATE,,deleterious(0),probably_damaging(1),1;ADHFE1,missense_variant,p.G75R,ENST00000523113,,c.223G>C,MODERATE,,deleterious(0),probably_damaging(1),1;ADHFE1,non_coding_transcript_exon_variant,,ENST00000496501,,n.292G>C,MODIFIER,,,,1;ADHFE1,downstream_gene_variant,,ENST00000518781,,,MODIFIER,,,,1;ADHFE1,missense_variant,p.G140R,ENST00000424777,,c.418G>C,MODERATE,,deleterious(0),probably_damaging(1),1;ADHFE1,3_prime_UTR_variant,,ENST00000426810,,c.*254G>C,MODIFIER,,,,1;ADHFE1,3_prime_UTR_variant,,ENST00000276576,,c.*254G>C,MODIFIER,,,,1;ADHFE1,3_prime_UTR_variant,,ENST00000449512,,c.*225G>C,MODIFIER,,,,1;ADHFE1,3_prime_UTR_variant,,ENST00000431959,,c.*275G>C,MODIFIER,,,,1;ADHFE1,intron_variant,,ENST00000419955,,c.*210+534G>C,MODIFIER,,,,1;ADHFE1,intron_variant,,ENST00000396621,,c.353+534G>C,MODIFIER,,,,1;ADHFE1,intron_variant,,ENST00000422166,,c.353+534G>C,MODIFIER,,,,1;ADHFE1,intron_variant,,ENST00000443372,,c.*160+534G>C,MODIFIER,,,,1;ADHFE1,downstream_gene_variant,,ENST00000466920,,,MODIFIER,,,,1;ADHFE1,downstream_gene_variant,,ENST00000463261,,,MODIFIER,,,,1	C	ENST00000396623	Transcript	missense_variant	missense_variant	449/1990	418/1404	140/467	G/R	Ggc/Cgc		1		1	ADHFE1	HGNC	HGNC:16354	protein_coding	YES	CCDS6190.2	ENSP00000379865	Q8IWW8		UPI000004966C	NM_144650.2	deleterious(0)	probably_damaging(1)	6/14		Pfam_domain:PF00465;Superfamily_domains:SSF56796																	MODERATE	1	SNV	1			1											PASS	GTGGTGGCTCT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			False	Unknown	C	3	2	71	66445282	66445282	G	C	1	0	0	0	0	1	0	0	0	387	1348	47	5		5	ADHFE1	8	66445282	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		66445282	78693354	12	1033											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	86	45	41	115			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f		COSM28758	True	Unknown	G	3	3	71	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		77794572	60600145	13	1034											
SLC28A3	64078	BI	GRCh38	chr9	84279273	84279273	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaatacaatacctgctcaaCagactttggcaacaagctat	6	10	1	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1941G>T	p.=	p.L647L	ENST00000376238	17/18	56	36	20	91			SLC28A3,synonymous_variant,p.L647L,ENST00000376238,NM_001199633.1&NM_022127.2,c.1941G>T,LOW,YES,,,-1;RP11-380F14.2,intron_variant,,ENST00000419815,,n.181+874C>A,MODIFIER,YES,,,1	A	ENST00000376238	Transcript	synonymous_variant	synonymous_variant	1991/4887	1941/2076	647/691	L	ctG/ctT		1		-1	SLC28A3	HGNC	HGNC:16484	protein_coding	YES	CCDS6670.1	ENSP00000365413	Q9HAS3		UPI000006F5A6	NM_001199633.1;NM_022127.2			17/18																			LOW	1	SNV	1			1											PASS	CTCAACAGACT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	2	1	71	84279273	84279273	C	A	1	0	0	0	0	0	0	0	1	14803	465	17	5		5	SLC28A3	9	84279273	Silent	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	6484701	84279273	54115444	14	1035											
FGFR2	2263	BI	GRCh38	chr10	121538712	121538712	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggctccagtgctggtttcGtacctgaaaagatcaaagca	11	9	1	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.628C>T	p.Arg210Ter	p.R210*	ENST00000358487	6/18	74	38	36	87			FGFR2,stop_gained,p.R121*,ENST00000613048,NM_023029.2,c.361C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000358487,NM_000141.4,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000369061,NM_001144914.1,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R121*,ENST00000357555,NM_001144915.1,c.361C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R95*,ENST00000356226,NM_001144918.1&NM_001144916.1,c.283C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000369060,NM_001144917.1,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000457416,NM_022970.3,c.628C>T,HIGH,YES,,,-1;FGFR2,stop_gained,p.R95*,ENST00000369059,,c.283C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R121*,ENST00000360144,NM_001144919.1,c.361C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000369058,,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000369056,NM_001144913.1,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R121*,ENST00000336553,,c.361C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000351936,,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000346997,,c.628C>T,HIGH,,,,-1;FGFR2,stop_gained,p.R210*,ENST00000359354,,c.628C>T,HIGH,,,,-1;FGFR2,non_coding_transcript_exon_variant,,ENST00000490349,,n.889C>T,MODIFIER,,,,-1;FGFR2,stop_gained,p.R95*,ENST00000604236,,c.283C>T,HIGH,,,,-1	A	ENST00000358487	Transcript	stop_gained	stop_gained	901/4255	628/2466	210/821	R/*	Cga/Tga		1		-1	FGFR2	HGNC	HGNC:3689	protein_coding		CCDS31298.1	ENSP00000351276	P21802		UPI000012A72A	NM_000141.4			6/18		Pfam_domain:PF07679;Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726;PIRSF_domain:PIRSF000628																	HIGH		SNV	1			1											PASS	GTTTCGTACCT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	4	1	71	121538712	121538712	G	A	1	0	0	0	0	0	1	0	0	5730	1159	40	1		1	FGFR2	10	121538712	Nonsense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		121538712	12258710	15	1036											
ALG9	0	BI	GRCh38	chr11	111844619	111844619	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgaaatctctgcagcaGgtattccataagagaagtca	8	9	2	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1699C>T	p.=	p.L567L	ENST00000622211	13/19	208	105	103	220			RP11-108O10.8,synonymous_variant,p.L567L,ENST00000622211,,c.1699C>T,LOW,YES,,,-1;ALG9,synonymous_variant,p.L163L,ENST00000398006,NM_001077692.1,c.487C>T,LOW,,,,-1;ALG9,synonymous_variant,p.L334L,ENST00000616540,NM_024740.2,c.1000C>T,LOW,YES,,,-1;ALG9,synonymous_variant,p.L334L,ENST00000614444,NM_001077690.1,c.1000C>T,LOW,,,,-1;ALG9,synonymous_variant,p.L163L,ENST00000531154,NM_001077691.1,c.487C>T,LOW,,,,-1;ALG9,non_coding_transcript_exon_variant,,ENST00000527294,,n.318C>T,MODIFIER,,,,-1;ALG9,intron_variant,,ENST00000530851,,n.537+8761C>T,MODIFIER,,,,-1;ALG9,3_prime_UTR_variant,,ENST00000619129,,c.*552C>T,MODIFIER,,,,-1;ALG9,3_prime_UTR_variant,,ENST00000613181,,c.*422C>T,MODIFIER,,,,-1;ALG9,non_coding_transcript_exon_variant,,ENST00000527714,,n.642C>T,MODIFIER,,,,-1;ALG9,downstream_gene_variant,,ENST00000618252,,,MODIFIER,,,,-1	A	ENST00000622211	Transcript	synonymous_variant	synonymous_variant	1992/2939	1699/2535	567/844	L	Ctg/Ttg		1		-1	RP11-108O10.8	Clone_based_vega_gene		protein_coding	YES		ENSP00000482396		A0A087WZ62	UPI000206546E				13/19		Pfam_domain:PF03901																	LOW		SNV	2			1											PASS	CAGCAGGTATT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	2	1	71	111844619	111844619	G	A	1	0	0	0	0	0	0	0	1	624	991	35	3		3	ALG9	11	111844619	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		111844619	23242003	16	1037											
SORL1	6653	BI	GRCh38	chr11	121558763	121558763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acctggagtgcatagagcggAtcacgttcagtggccagcag	14	10	2	1	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.2836A>T	p.Ile946Phe	p.I946F	ENST00000260197	20/48	79	54	25	94			SORL1,missense_variant,p.I946F,ENST00000260197,NM_003105.5,c.2836A>T,MODERATE,YES,deleterious(0.05),benign(0.172),1;SORL1,non_coding_transcript_exon_variant,,ENST00000529445,,n.542A>T,MODIFIER,,,,1;SORL1,non_coding_transcript_exon_variant,,ENST00000524873,,n.564A>T,MODIFIER,,,,1	T	ENST00000260197	Transcript	missense_variant	missense_variant	2965/10904	2836/6645	946/2214	I/F	Atc/Ttc		1		1	SORL1	HGNC	HGNC:11185	protein_coding	YES	CCDS8436.1	ENSP00000260197	Q92673			NM_003105.5	deleterious(0.05)	benign(0.172)	20/48		PROSITE_profiles:PS51120;SMART_domains:SM00135;Superfamily_domains:SSF63825																	MODERATE	1	SNV	1			1											PASS	AGCGGATCACG	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	T	3	4	71	121558763	121558763	A	T	1	0	0	0	0	1	0	0	0	15256	333	12	5		5	SORL1	11	121558763	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	9714144	121558763	13527859	17	1038											
SLC6A13	6540	BI	GRCh38	chr12	224425	224425	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatccagtcccaggagaacGaccatgaagaagaaacagca	9	11	0	4	rs145951312	byCluster	TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1149C>T	p.=	p.V383V	ENST00000343164	10/15	50	27	23	77			SLC6A13,synonymous_variant,p.V383V,ENST00000343164,NM_016615.4,c.1149C>T,LOW,YES,,,-1;SLC6A13,synonymous_variant,p.V291V,ENST00000445055,NM_001190997.2,c.873C>T,LOW,,,,-1;SLC6A13,non_coding_transcript_exon_variant,,ENST00000539668,,n.7C>T,MODIFIER,,,,-1;SLC6A13,intron_variant,,ENST00000542379,,n.220-1191C>T,MODIFIER,,,,-1;SLC6A13,non_coding_transcript_exon_variant,,ENST00000543722,,n.379C>T,MODIFIER,,,,-1;SLC6A13,downstream_gene_variant,,ENST00000542947,,,MODIFIER,,,,-1	A	ENST00000343164	Transcript	synonymous_variant	synonymous_variant	1202/2185	1149/1809	383/602	V	gtC/gtT	rs145951312	1		-1	SLC6A13	HGNC	HGNC:11046	protein_coding	YES	CCDS8502.1	ENSP00000339260	Q9NSD5		UPI0000046060	NM_016615.4			10/15		Pfam_domain:PF00209;Transmembrane_helices:Tmhmm;Prints_domain:PR00176;PROSITE_profiles:PS50267								0	2e-04								LOW	1	SNV	1			1	0.0001647	0.0001653	0.0001943	0	0.0001157	0	0.0002406	0	6.059e-05		panel_of_normals	AGAACGACCAT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f	gdc_pon		True	Unknown	A	2	1	71	224425	224425	G	A	1	0	0	0	0	0	0	0	1	14959	1045	37	2		2	SLC6A13	12	224425	Silent	SNP	G	TCGA-WC-A885-01A-11D-A39W-08		224425	133050884	18	1039											
BAZ2A	11176	BI	GRCh38	chr12	56609798	56609798	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagctcagtgattttgAccttaggtggccgacctcga	10	10	2	2	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.2036T>G	p.Val679Gly	p.V679G	ENST00000551812	10/29	24	14	10	46			BAZ2A,missense_variant,p.V649G,ENST00000379441,,c.1946T>G,MODERATE,,deleterious(0),possibly_damaging(0.742),-1;BAZ2A,missense_variant,p.V679G,ENST00000551812,NM_013449.3,c.2036T>G,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;BAZ2A,missense_variant,p.V677G,ENST00000549884,NM_001300905.1,c.2030T>G,MODERATE,,deleterious(0),probably_damaging(0.996),-1;BAZ2A,missense_variant,p.V105G,ENST00000547650,,c.313T>G,MODERATE,,tolerated(0.06),benign(0.173),-1;BAZ2A,downstream_gene_variant,,ENST00000551996,,,MODIFIER,,,,-1;BAZ2A,upstream_gene_variant,,ENST00000549763,,,MODIFIER,,,,-1;BAZ2A,downstream_gene_variant,,ENST00000547647,,,MODIFIER,,,,-1;BAZ2A,downstream_gene_variant,,ENST00000549327,,,MODIFIER,,,,-1;BAZ2A,upstream_gene_variant,,ENST00000548578,,,MODIFIER,,,,-1;BAZ2A,upstream_gene_variant,,ENST00000551759,,,MODIFIER,,,,-1	C	ENST00000551812	Transcript	missense_variant	missense_variant	2230/8600	2036/5718	679/1905	V/G	gTc/gGc		1		-1	BAZ2A	HGNC	HGNC:962	protein_coding	YES	CCDS44924.1	ENSP00000446880	Q9UIF9		UPI0000D4FED1	NM_013449.3	deleterious(0)	probably_damaging(0.996)	10/29		PROSITE_profiles:PS50318;SMART_domains:SM00384																	MODERATE	1	SNV	1			1											PASS	TTTTGACCTTA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	C	3	2	71	56609798	56609798	A	C	1	0	0	0	0	1	0	0	0	1476	275	10	5		5	BAZ2A	12	56609798	Missense_Mutation	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	56385373	56609798	76665511	19	1040											
SSH1	54434	BI	GRCh38	chr12	108788337	108788337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctatcgctgctggagctcCgggtcaggttggagctcatg	15	10	2	0	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.2801G>A	p.Arg934Gln	p.R934Q	ENST00000326495	15/15	68	33	35	80			SSH1,missense_variant,p.R934Q,ENST00000326495,NM_018984.3,c.2801G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),-1;SSH1,downstream_gene_variant,,ENST00000326470,NM_001161331.1,,MODIFIER,,,,-1;SSH1,downstream_gene_variant,,ENST00000551165,NM_001161330.1,,MODIFIER,,,,-1;SSH1,3_prime_UTR_variant,,ENST00000546433,,c.*1794G>A,MODIFIER,,,,-1	T	ENST00000326495	Transcript	missense_variant	missense_variant	2895/13040	2801/3150	934/1049	R/Q	cGg/cAg		1		-1	SSH1	HGNC	HGNC:30579	protein_coding	YES	CCDS9121.1	ENSP00000315713	Q8WYL5			NM_018984.3	deleterious_low_confidence(0)	probably_damaging(0.999)	15/15		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											panel_of_normals	AGCTCCGGGTC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f	gdc_pon		True	Unknown	T	3	4	71	108788337	108788337	C	T	1	0	0	0	0	1	0	0	0	15560	652	23	2		2	SSH1	12	108788337	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08	52178539	108788337	24486972	20	1041											
WDR66	144406	BI	GRCh38	chr12	121954173	121954173	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatctttcacttgaatttAacacaaatactctcagccac	2	13	3	1	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.1374A>G	p.=	p.L458L	ENST00000288912	10/22	107	45	62	123			WDR66,synonymous_variant,p.L458L,ENST00000288912,NM_144668.5,c.1374A>G,LOW,YES,,,1;WDR66,synonymous_variant,p.L458L,ENST00000397454,NM_001178003.1,c.1374A>G,LOW,,,,1;WDR66,non_coding_transcript_exon_variant,,ENST00000535257,,n.1479A>G,MODIFIER,,,,1;WDR66,intron_variant,,ENST00000543211,,n.3863-1526A>G,MODIFIER,,,,1;WDR66,downstream_gene_variant,,ENST00000546044,,,MODIFIER,,,,1	G	ENST00000288912	Transcript	synonymous_variant	synonymous_variant	2228/4467	1374/3450	458/1149	L	ttA/ttG		1		1	WDR66	HGNC	HGNC:28506	protein_coding	YES	CCDS41853.1	ENSP00000288912	Q8TBY9		UPI00001AEB2C	NM_144668.5			10/22		SMART_domains:SM00320;Superfamily_domains:SSF50978																	LOW	1	SNV	1			1											PASS	AATTTAACACA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	G	2	3	71	121954173	121954173	A	G	1	0	0	0	0	0	0	0	1	17875	359	13	4		4	WDR66	12	121954173	Silent	SNP	A	TCGA-WC-A885-01A-11D-A39W-08	13165836	121954173	11321136	21	1042											
WDHD1	11169	BI	GRCh38	chr14	54957630	54957630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttggctgctaaaggtaaCtgcacctttcacaaaaaaga	7	10	1	1	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.2707G>A	p.Val903Ile	p.V903I	ENST00000360586	22/26	50	30	20	96			WDHD1,missense_variant,p.V903I,ENST00000360586,NM_007086.3,c.2707G>A,MODERATE,YES,tolerated(0.51),benign(0.013),-1;WDHD1,missense_variant,p.V780I,ENST00000420358,NM_001008396.2,c.2338G>A,MODERATE,,tolerated(0.48),benign(0.013),-1;WDHD1,3_prime_UTR_variant,,ENST00000567693,,c.*1157G>A,MODIFIER,,,,-1	T	ENST00000360586	Transcript	missense_variant	missense_variant	2773/5996	2707/3390	903/1129	V/I	Gtt/Att		1		-1	WDHD1	HGNC	HGNC:23170	protein_coding	YES	CCDS9721.1	ENSP00000353793	O75717		UPI0000125AC6	NM_007086.3	tolerated(0.51)	benign(0.013)	22/26																			MODERATE	1	SNV	1			1											PASS	GGTAACTGCAC	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	T	3	4	71	54957630	54957630	C	T	1	0	0	0	0	1	0	0	0	17832	579	20	3		3	WDHD1	14	54957630	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		54957630	52086088	22	1043											
LAMA1	284217	BI	GRCh38	chr18	6985238	6985238	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaggcgtgttcctaccTgtacagaacatctgctagtc	8	12	1	1	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.5659A>T	p.Ser1887Cys	p.S1887C	ENST00000389658	39/63	229	138	91	284			LAMA1,missense_variant,p.S1887C,ENST00000389658,NM_005559.3,c.5659A>T,MODERATE,YES,deleterious(0.02),probably_damaging(0.928),-1;LAMA1,splice_region_variant,,ENST00000579014,,n.6674A>T,LOW,,,,-1	A	ENST00000389658	Transcript	missense_variant	missense_variant;splice_region_variant	5753/9657	5659/9228	1887/3075	S/C	Agt/Tgt		1		-1	LAMA1	HGNC	HGNC:6481	protein_coding	YES	CCDS32787.1	ENSP00000374309	P25391		UPI00001C1FF9	NM_005559.3	deleterious(0.02)	probably_damaging(0.928)	39/63																			MODERATE	1	SNV	2			1											PASS	CTACCTGTACA	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	3	1	71	6985238	6985238	T	A	1	0	0	0	0	1	0	0	0	8509	1594	55	5		5	LAMA1	18	6985238	Missense_Mutation	SNP	T	TCGA-WC-A885-01A-11D-A39W-08		6985238	73388047	23	1044											
MRPL4	51073	BI	GRCh38	chr19	10254602	10254602	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaggctggacatactgCaccaggttgctatgtggcag	13	12	0	0	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.289C>T	p.His97Tyr	p.H97Y	ENST00000253099	4/9	168	93	75	251			MRPL4,missense_variant,p.H97Y,ENST00000393733,,c.289C>T,MODERATE,,tolerated(0.1),possibly_damaging(0.498),1;MRPL4,missense_variant,p.H97Y,ENST00000253099,NM_015956.2,c.289C>T,MODERATE,YES,tolerated(0.06),benign(0.443),1;MRPL4,missense_variant,p.H97Y,ENST00000590669,NM_146388.1,c.289C>T,MODERATE,,tolerated(0.06),benign(0.149),1;MRPL4,missense_variant,p.H97Y,ENST00000307422,NM_146387.1,c.289C>T,MODERATE,,tolerated(0.06),benign(0.443),1;MRPL4,missense_variant,p.H97Y,ENST00000592514,,c.289C>T,MODERATE,,tolerated(0.06),benign(0.443),1;MRPL4,missense_variant,p.H96Y,ENST00000588502,,c.286C>T,MODERATE,,tolerated(0.07),benign(0.149),1;MRPL4,missense_variant,p.H108Y,ENST00000590150,,c.322C>T,MODERATE,,tolerated(0.05),benign(0.222),1;MRPL4,upstream_gene_variant,,ENST00000590702,,,MODIFIER,,,,1;CTD-2369P2.5,intron_variant,,ENST00000592893,,n.359-1775G>A,MODIFIER,YES,,,-1;CTD-2369P2.4,downstream_gene_variant,,ENST00000587088,,,MODIFIER,YES,,,-1;MRPL4,missense_variant,p.H97Y,ENST00000591054,,c.289C>T,MODERATE,,tolerated(0.06),benign(0.287),1;MRPL4,non_coding_transcript_exon_variant,,ENST00000592071,,n.372C>T,MODIFIER,,,,1;MRPL4,downstream_gene_variant,,ENST00000588963,,,MODIFIER,,,,1	T	ENST00000253099	Transcript	missense_variant	missense_variant	576/1455	289/936	97/311	H/Y	Cac/Tac		1		1	MRPL4	HGNC	HGNC:14276	protein_coding	YES	CCDS12230.1	ENSP00000253099	Q9BYD3	A0A024R7C5	UPI0000072264	NM_015956.2	tolerated(0.06)	benign(0.443)	4/9		Pfam_domain:PF00573;TIGRFAM_domain:TIGR03953;Superfamily_domains:SSF52166																	MODERATE	1	SNV	1			1											PASS	TACTGCACCAG	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	T	3	4	71	10254602	10254602	C	T	1	0	0	0	0	1	0	0	0	9778	710	25	3		3	MRPL4	19	10254602	Missense_Mutation	SNP	C	TCGA-WC-A885-01A-11D-A39W-08		10254602	48363014	24	1045											
FAM187B	148109	BI	GRCh38	chr19	35228212	35228212	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtttacactcgcccgGctcctcacagcggttgcagt	11	15	1	0	novel		TCGA-WC-A885-01A-11D-A39W-08	TCGA-WC-A885-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	26623935-ef1b-48ed-82be-61f510b345f1	b4aab0c3-d7a4-4363-8f30-0ffe07fdd691	c.469C>T	p.Pro157Ser	p.P157S	ENST00000324675	1/2	48	24	24	83			FAM187B,missense_variant,p.P157S,ENST00000324675,NM_152481.1,c.469C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.976),-1;FAM187B2P,downstream_gene_variant,,ENST00000577135,,,MODIFIER,YES,,,-1	A	ENST00000324675	Transcript	missense_variant	missense_variant	518/1184	469/1110	157/369	P/S	Ccg/Tcg		1		-1	FAM187B	HGNC	HGNC:26366	protein_coding	YES	CCDS12448.1	ENSP00000323355	Q17R55		UPI0000049306	NM_152481.1	deleterious(0.01)	probably_damaging(0.976)	1/2																			MODERATE	1	SNV	1			1											PASS	GCCCGGCTCCT	8de53e00-af1a-4aae-97ec-3229c6766842	76f510ec-2f9e-4469-acaa-fd0e97486954	ac529319-9c0b-40d2-8582-4f8678757066	f78d8541-b317-4c8a-aa66-f172a8eaf14f			True	Unknown	A	3	1	71	35228212	35228212	G	A	1	0	0	0	0	1	0	0	0	5364	1203	42	3		3	FAM187B	19	35228212	Missense_Mutation	SNP	G	TCGA-WC-A885-01A-11D-A39W-08	24973610	35228212	23389404	25	1046											
CADM3	57863	BI	GRCh38	chr1	159192614	159192614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattcagctggttacctctaCgccccacgagctcagcatca	7	15	4	0	rs748945624	byFrequency	TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.266C>T	p.Thr89Met	p.T89M	ENST00000368125	3/9	70	58	12	75			CADM3,missense_variant,p.T89M,ENST00000368125,NM_001127173.1,c.266C>T,MODERATE,,deleterious(0),probably_damaging(0.964),1;CADM3,missense_variant,p.T123M,ENST00000368124,NM_021189.3,c.368C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.849),1;CADM3,missense_variant,p.T89M,ENST00000416746,,c.266C>T,MODERATE,,deleterious(0),probably_damaging(0.94),1;CADM3-AS1,downstream_gene_variant,,ENST00000415675,,,MODIFIER,YES,,,-1	T	ENST00000368125	Transcript	missense_variant	missense_variant	423/3745	266/1197	89/398	T/M	aCg/aTg	rs748945624	1		1	CADM3	HGNC	HGNC:17601	protein_coding		CCDS44251.1	ENSP00000357107	Q8N126		UPI0000031579	NM_001127173.1	deleterious(0)	probably_damaging(0.964)	3/9		Pfam_domain:PF07679;Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE		SNV	1			1	2.471e-05	2.471e-05	0.0001922	8.64e-05	0	0	0	0	0		PASS	CTCTACGCCCC	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678		COSM228815	True	Unknown	T	3	4	72	159192614	159192614	C	T	1	0	0	0	0	1	0	0	0	2258	536	19	1		1	CADM3	1	159192614	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		159192614	89763808	1	1047											
DDR2	4921	BI	GRCh38	chr1	162767302	162767302	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggccatcatctttatcctCctggccatcattgtcatcat	6	13	5	0	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.1236C>T	p.=	p.L412L	ENST00000367921	11/18	88	67	21	80			DDR2,synonymous_variant,p.L412L,ENST00000367922,NM_001014796.1,c.1236C>T,LOW,YES,,,1;DDR2,synonymous_variant,p.L412L,ENST00000367921,NM_006182.2,c.1236C>T,LOW,,,,1;DDR2,synonymous_variant,p.L5L,ENST00000433757,,c.13C>T,LOW,,,,1;DDR2,synonymous_variant,p.L22L,ENST00000458105,,c.66C>T,LOW,,,,1	T	ENST00000367921	Transcript	synonymous_variant	synonymous_variant	1589/3096	1236/2568	412/855	L	ctC/ctT		1		1	DDR2	HGNC	HGNC:2731	protein_coding		CCDS1241.1	ENSP00000356898	Q16832	A0A024R906	UPI000013E1B4	NM_006182.2			11/18		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	LOW		SNV	1			1											PASS	ATCCTCCTGGC	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	T	2	4	72	162767302	162767302	C	T	1	0	0	0	0	0	0	0	1	4141	842	30	3		3	DDR2	1	162767302	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08	3574688	162767302	86189120	2	1048											
SPTBN1	6711	BI	GRCh38	chr2	54618190	54618190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactaaactgttggaccccGaaggtagggactcaagggat	12	9	2	0			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.760G>A	p.Glu254Lys	p.E254K	ENST00000356805	7/36	50	45	5	46			SPTBN1,missense_variant,p.E254K,ENST00000615901,,c.760G>A,MODERATE,,deleterious(0),probably_damaging(0.985),1;SPTBN1,missense_variant,p.E241K,ENST00000333896,NM_178313.2,c.721G>A,MODERATE,,deleterious(0),probably_damaging(0.979),1;SPTBN1,missense_variant,p.E254K,ENST00000356805,NM_003128.2,c.760G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;SPTBN1,missense_variant,p.E254K,ENST00000389980,,c.760G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1	A	ENST00000356805	Transcript	missense_variant	missense_variant	1041/8482	760/7095	254/2364	E/K	Gaa/Aaa		1		1	SPTBN1	HGNC	HGNC:11275	protein_coding	YES	CCDS33198.1	ENSP00000349259	Q01082	B2ZZ89	UPI0000DBEE4B	NM_003128.2	deleterious(0)	probably_damaging(0.997)	7/36		Pfam_domain:PF00307;Pfam_domain:PF11971;PROSITE_profiles:PS50021;SMART_domains:SM00033;Superfamily_domains:SSF47576;PIRSF_domain:PIRSF002297																	MODERATE	1	SNV	1			1											PASS	ACCCCGAAGGT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678		COSM1021636;COSM1021637	True	Unknown	A	3	1	72	54618190	54618190	G	A	1	0	0	0	0	1	0	0	0	15475	1072	37	2		2	SPTBN1	2	54618190	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		54618190	187575339	3	1049											
SPAG16	79582	BI	GRCh38	chr2	213930057	213930057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaaggacacagccgcGcagtgtggtcctgcacatgg	13	12	0	1	rs747474099	byFrequency	TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.1312G>A	p.Ala438Thr	p.A438T	ENST00000331683	12/16	79	71	8	84			SPAG16,missense_variant,p.A438T,ENST00000331683,NM_024532.4,c.1312G>A,MODERATE,YES,deleterious(0.03),benign(0.238),1;SPAG16,intron_variant,,ENST00000451561,,c.272+67429G>A,MODIFIER,,,,1;SPAG16,intron_variant,,ENST00000480494,,n.142+6053G>A,MODIFIER,,,,1;SPAG16,3_prime_UTR_variant,,ENST00000452556,,c.*878G>A,MODIFIER,,,,1;SPAG16,3_prime_UTR_variant,,ENST00000406979,,c.*1313G>A,MODIFIER,,,,1	A	ENST00000331683	Transcript	missense_variant	missense_variant	1407/2177	1312/1896	438/631	A/T	Gca/Aca	rs747474099	1		1	SPAG16	HGNC	HGNC:23225	protein_coding	YES	CCDS2396.1	ENSP00000332592	Q8N0X2		UPI00001AFF12	NM_024532.4	deleterious(0.03)	benign(0.238)	12/16		Pfam_domain:PF00400;SMART_domains:SM00320;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1	5.765e-05	5.767e-05	0	0	0.0006946	0	0	0	6.057e-05		PASS	GCCGCGCAGTG	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678	common_in_exac		True	Unknown	A	3	1	72	213930057	213930057	G	A	1	0	0	0	0	1	0	0	0	15309	1087	38	2		2	SPAG16	2	213930057	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08	159311867	213930057	28263472	4	1050											
BAP1	8314	BI	GRCh38	chr3	52407236	52407236	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccggcctgtgataggcacaTagctgacaaagtggaacgcc	13	11	0	2			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.518A>G	p.Tyr173Cys	p.Y173C	ENST00000460680	7/17	24	20	4	37			BAP1,missense_variant,p.Y173C,ENST00000460680,NM_004656.3,c.518A>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;BAP1,missense_variant,p.Y173C,ENST00000296288,,c.518A>G,MODERATE,,deleterious(0),probably_damaging(1),-1;BAP1,missense_variant,p.Y94C,ENST00000470173,,c.281A>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;BAP1,3_prime_UTR_variant,,ENST00000490917,,c.*259A>G,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,,n.233A>G,MODIFIER,,,,-1;BAP1,intron_variant,,ENST00000483984,,n.437+163A>G,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	C	ENST00000460680	Transcript	missense_variant	missense_variant	990/3937	518/2190	173/729	Y/C	tAt/tGt		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3	deleterious(0)	probably_damaging(0.999)	7/17		Pfam_domain:PF01088;Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1											PASS	GCACATAGCTG	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678		COSM1666806	False	Unknown	C	3	2	72	52407236	52407236	T	C	1	0	0	0	0	1	0	0	0	1463	1406	49	4		4	BAP1	3	52407236	Missense_Mutation	SNP	T	TCGA-WC-A888-01A-11D-A39W-08		52407236	145888323	5	1051											
GPR78	27201	BI	GRCh38	chr4	8587242	8587242	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagcatccacccatgAcagctctctggatgtggccg	11	16	1	1	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.971A>G	p.Asp324Gly	p.D324G	ENST00000382487	3/3	58	47	11	64			GPR78,missense_variant,p.D324G,ENST00000382487,NM_080819.4,c.971A>G,MODERATE,YES,tolerated_low_confidence(0.23),benign(0),1;GPR78,non_coding_transcript_exon_variant,,ENST00000509216,,n.771A>G,MODIFIER,,,,1;GPR78,non_coding_transcript_exon_variant,,ENST00000504255,,n.449A>G,MODIFIER,,,,1;GPR78,intron_variant,,ENST00000514302,,c.782+4598A>G,MODIFIER,,,,1	G	ENST00000382487	Transcript	missense_variant	missense_variant	1388/1694	971/1092	324/363	D/G	gAc/gGc		1		1	GPR78	HGNC	HGNC:4528	protein_coding	YES	CCDS3403.1	ENSP00000371927	Q96P69	B2R7M4	UPI0000037A5F	NM_080819.4	tolerated_low_confidence(0.23)	benign(0)	3/3		Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	CCATGACAGCT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	G	3	3	72	8587242	8587242	A	G	1	0	0	0	0	1	0	0	0	6592	275	10	4		4	GPR78	4	8587242	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		8587242	181627313	6	1052											
OR9A4	130075	BI	GRCh38	chr7	141918929	141918929	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatctccttggcttccctggCtctgaagaactacatcatat	6	12	3	2	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.54C>A	p.=	p.G18G	ENST00000548136	1/1	161	149	12	184			OR9A4,synonymous_variant,p.G18G,ENST00000548136,NM_001001656.1,c.54C>A,LOW,YES,,,1;MGAM,intron_variant,,ENST00000465654,,c.-180+11061C>A,MODIFIER,,,,1;MGAM,intron_variant,,ENST00000497554,,n.37-10848C>A,MODIFIER,,,,1	A	ENST00000548136	Transcript	synonymous_variant	synonymous_variant	113/1093	54/945	18/314	G	ggC/ggA		1		1	OR9A4	HGNC	HGNC:15095	protein_coding	YES	CCDS43661.1	ENSP00000448789	Q8NGU2		UPI0000041D24	NM_001001656.1			1/1		Superfamily_domains:SSF81321																	LOW	1	SNV				1											PASS	CCTGGCTCTGA	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	A	2	1	72	141918929	141918929	C	A	1	0	0	0	0	0	0	0	1	11316	784	28	5		5	OR9A4	7	141918929	Silent	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		141918929	17427044	7	1053											
CACNA1B	774	BI	GRCh38	chr9	138121752	138121752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcgaattggctctgaccCttacctggggcagcgtctgg	12	13	3	1	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.6773C>T	p.Pro2258Leu	p.P2258L	ENST00000371372	47/47	42	31	11	63			CACNA1B,missense_variant,p.P2258L,ENST00000371372,NM_000718.3,c.6773C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;CACNA1B,missense_variant,p.P2256L,ENST00000371363,,c.6767C>T,MODERATE,,deleterious(0),possibly_damaging(0.713),1;CACNA1B,missense_variant,p.P2259L,ENST00000371355,,c.6776C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;CACNA1B,missense_variant,p.P2257L,ENST00000371357,,c.6770C>T,MODERATE,,deleterious(0),possibly_damaging(0.908),1;CACNA1B,missense_variant,p.L2196F,ENST00000277549,,c.6586C>T,MODERATE,,tolerated_low_confidence(0.21),unknown(0),1;CACNA1B,missense_variant,p.L2196F,ENST00000277551,NM_001243812.1,c.6586C>T,MODERATE,,tolerated_low_confidence(0.21),unknown(0),1	T	ENST00000371372	Transcript	missense_variant	missense_variant	6918/9790	6773/7020	2258/2339	P/L	cCt/cTt		1		1	CACNA1B	HGNC	HGNC:1389	protein_coding	YES	CCDS59522.1	ENSP00000360423	Q00975		UPI0000127267	NM_000718.3	deleterious(0)	probably_damaging(0.999)	47/47																			MODERATE	1	SNV	5			1											PASS	TGACCCTTACC	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	T	3	4	72	138121752	138121752	C	T	1	0	0	0	0	1	0	0	0	2227	681	24	3		3	CACNA1B	9	138121752	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		138121752	272965	8	1054											
CFAP70	118491	BI	GRCh38	chr10	73293283	73293283	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttataatatgctgctgCcatctcaaagttctcattga	5	10	3	1	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.1960G>A	p.Ala654Thr	p.A654T	ENST00000310715	17/28	35	28	7	40			CFAP70,missense_variant,p.A654T,ENST00000310715,NM_145170.3,c.1960G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;CFAP70,missense_variant,p.A123T,ENST00000355577,,c.367G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CFAP70,missense_variant,p.A61T,ENST00000433268,,c.181G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;CFAP70,intron_variant,,ENST00000340329,,c.648-18733G>A,MODIFIER,,,,-1;CFAP70,upstream_gene_variant,,ENST00000394865,,,MODIFIER,,,,-1;CFAP70,non_coding_transcript_exon_variant,,ENST00000493787,,n.5540G>A,MODIFIER,,,,-1;CFAP70,upstream_gene_variant,,ENST00000495161,,,MODIFIER,,,,-1;CFAP70,upstream_gene_variant,,ENST00000462684,,,MODIFIER,,,,-1	T	ENST00000310715	Transcript	missense_variant	missense_variant	2081/3703	1960/3366	654/1121	A/T	Gca/Aca		1		-1	CFAP70	HGNC	HGNC:30726	protein_coding	YES	CCDS7324.3	ENSP00000310829	Q5T0N1		UPI00001AEF7A	NM_145170.3	deleterious(0)	probably_damaging(0.995)	17/28		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50293;SMART_domains:SM00028;Superfamily_domains:SSF48452																	MODERATE	1	SNV	5			1											PASS	TGCTGCCATCT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	T	3	4	72	73293283	73293283	C	T	1	0	0	0	0	1	0	0	0	3031	739	26	3		3	CFAP70	10	73293283	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08		73293283	60504139	9	1055											
OR5B21	219968	BI	GRCh38	chr11	58507247	58507247	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgttcctaaggctgtAtatcaagggattcagcatgg	10	7	3	0	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.859T>C	p.Tyr287His	p.Y287H	ENST00000360374	1/1	163	141	22	171			OR5B21,missense_variant,p.Y287H,ENST00000360374,NM_001005218.1,c.859T>C,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.996),-1;RP11-655C2.3,upstream_gene_variant,,ENST00000531715,,,MODIFIER,YES,,,-1;RP11-655C2.3,upstream_gene_variant,,ENST00000528978,,,MODIFIER,,,,-1;RP11-655C2.3,upstream_gene_variant,,ENST00000527054,,,MODIFIER,,,,-1	G	ENST00000360374	Transcript	missense_variant	missense_variant	859/931	859/930	287/309	Y/H	Tac/Cac		1		-1	OR5B21	HGNC	HGNC:19616	protein_coding	YES	CCDS31552.1	ENSP00000353537	A6NL26		UPI000015FCAA	NM_001005218.1	deleterious_low_confidence(0)	probably_damaging(0.996)	1/1		Pfam_domain:PF00001;Transmembrane_helices:Tmhmm;Prints_domain:PR00245;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE		SNV				1											PASS	GCTGTATATCA	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	G	3	3	72	58507247	58507247	A	G	1	0	0	0	0	1	0	0	0	11222	449	16	4		4	OR5B21	11	58507247	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		58507247	76579375	10	1056											
THBS1	7057	BI	GRCh38	chr15	39582282	39582282	+	Frame_Shift_Del	DEL	G	G	-													gccgactggtgaagggccccGacccttccagcccagctttc					novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.157delG	p.Asp53ThrfsTer14	p.D53Tfs*14	ENST00000260356	3/22	37	33	4	60			THBS1,frameshift_variant,p.D53Tfs*14,ENST00000260356,NM_003246.2,c.157delG,HIGH,YES,,,1;THBS1,frameshift_variant,p.D53Tfs*14,ENST00000397591,,c.157delG,HIGH,,,,1;CTD-2033D15.2,upstream_gene_variant,,ENST00000478845,,,MODIFIER,YES,,,1	-	ENST00000260356	Transcript	frameshift_variant	frameshift_variant	322/7775	157/3513	53/1170	D/X	Gac/ac		1		1	THBS1	HGNC	HGNC:11785	protein_coding	YES	CCDS32194.1	ENSP00000260356	P07996		UPI00001FE219	NM_003246.2			3/22		SMART_domains:SM00210;Superfamily_domains:SSF49899																	HIGH	1	deletion	1			1											PASS	GGCCCCGACCCT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	-	7	5	72	39582282	39582282	G	-	1	0	1	0	1	0	0	0	0	16286	1058	37	0		0	THBS1	15	39582282	Frame_Shift_Del	DEL	G	TCGA-WC-A888-01A-11D-A39W-08		39582282	62408907	11	1057											
SRSF2	6427	BI	GRCh38	chr17	76736291	76736308	+	In_Frame_Del	DEL	GATCTGGAGACCGACGAG	GATCTGGAGACCGACGAG	-													gggacctggaccgcgaacgaGatctggagaccgacgaggac					novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.519_536delCTCGTCGGTCTCCAGATC	p.Ser174_Ser179del	p.S174_S179del	ENST00000359995	2/3	66	54	12	85			SRSF2,inframe_deletion,p.S174_S179del,ENST00000392485,NM_003016.4,c.519_536delCTCGTCGGTCTCCAGATC,MODERATE,YES,,,-1;SRSF2,inframe_deletion,p.S174_S179del,ENST00000359995,NM_001195427.1,c.519_536delCTCGTCGGTCTCCAGATC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.S162_S167del,ENST00000508921,,c.483_500delCTCGTCGGTCTCCAGATC,MODERATE,,,,-1;MFSD11,5_prime_UTR_variant,,ENST00000586622,,c.-870_-853delTCTGGAGACCGACGAGGA,MODIFIER,,,,1;RP11-318A15.7,intron_variant,,ENST00000587459,,c.239-1989_239-1972delTCTGGAGACCGACGAGGA,MODIFIER,YES,,,1;MFSD11,upstream_gene_variant,,ENST00000588460,,,MODIFIER,YES,,,1;MFSD11,upstream_gene_variant,,ENST00000621483,NM_001242534.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000355954,NM_001242536.1&NM_001242537.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000336509,NM_001242533.1&NM_001242535.1&NM_024311.3&NM_001242532.1,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000593181,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590514,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588783,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000615984,NM_001206983.1&NM_001080510.3&NM_001206984.1,,MODIFIER,YES,,,1;METTL23,downstream_gene_variant,,ENST00000341249,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000590393,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586738,NM_001302703.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588822,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000590964,NM_001206987.1&NM_001206985.1&NM_001206986.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588302,NM_001302704.1,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000586752,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000587661,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000592849,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000589977,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588964,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000591571,,,MODIFIER,,,,1;METTL23,downstream_gene_variant,,ENST00000588563,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000586689,,,MODIFIER,,,,1;SRSF2,downstream_gene_variant,,ENST00000358156,,,MODIFIER,,,,-1;SRSF2,downstream_gene_variant,,ENST00000583836,,,MODIFIER,,,,-1;METTL23,downstream_gene_variant,,ENST00000586200,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000591864,,,MODIFIER,,,,1;MIR636,downstream_gene_variant,,ENST00000384825,,,MODIFIER,YES,,,-1;SRSF2,inframe_deletion,p.S174_S179del,ENST00000585202,,c.519_536delCTCGTCGGTCTCCAGATC,MODERATE,,,,-1;SRSF2,inframe_deletion,p.S174_S179del,ENST00000452355,,c.519_536delCTCGTCGGTCTCCAGATC,MODERATE,,,,-1;SRSF2,non_coding_transcript_exon_variant,,ENST00000582449,,n.248_265delCTCGTCGGTCTCCAGATC,MODIFIER,,,,-1;SRSF2,upstream_gene_variant,,ENST00000586778,,,MODIFIER,,,,-1;MFSD11,upstream_gene_variant,,ENST00000588768,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588670,,,MODIFIER,,,,1;MFSD11,upstream_gene_variant,,ENST00000588031,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000589919,,,MODIFIER,,,,-1;METTL23,downstream_gene_variant,,ENST00000589581,,,MODIFIER,,,,1;SRSF2,upstream_gene_variant,,ENST00000592676,,,MODIFIER,,,,-1	-	ENST00000359995	Transcript	inframe_deletion	inframe_deletion	733-750/1927	519-536/666	173-179/221	SSSVSRS/S	tcCTCGTCGGTCTCCAGATCt/tct		1		-1	SRSF2	HGNC	HGNC:10783	protein_coding		CCDS11749.1	ENSP00000353089	Q01130	A0A024R8U5		NM_001195427.1			2/3		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50323;PROSITE_profiles:PS50324																	MODERATE		deletion	1			1											PASS	GAACGAGATCTGGAGACCGACGAGGACTT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	-	7	5	72	76736291	76736291	GATCTGGAGACCGACGAG	-	1	0	1	0	1	0	0	0	0	15539	942	33	0		0	SRSF2	17	76736291	In_Frame_Del	DEL	GATCTGGAGACCGACGAG	TCGA-WC-A888-01A-11D-A39W-08		76736291	6521150	12	1058											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	53	35	18	51			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678		COSM52969	True	Unknown	T	3	4	72	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A888-01A-11D-A39W-08		3118944	55498672	13	1059											
KIR2DL4	3805	BI	GRCh38	chr19	54813951	54813951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcaagagaccctcaaCagataccagcgtgtgtatag	12	9	1	2	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.869C>T	p.Thr290Ile	p.T290I	ENST00000345540	7/7	308	276	32	344			KIR2DL4,missense_variant,p.T364I,ENST00000396284,,c.1091C>T,MODERATE,,tolerated(0.07),benign(0.073),1;KIR2DL4,missense_variant,p.T346I,ENST00000396289,NM_002255.5,c.1035C>T,MODERATE,,tolerated(0.09),benign(0.081),1;KIR2DL4,missense_variant,p.T290I,ENST00000345540,NM_001080770.1,c.869C>T,MODERATE,YES,tolerated(0.09),benign(0.042),1;KIR2DL4,missense_variant,p.T273I,ENST00000357494,,c.818C>T,MODERATE,,deleterious(0.03),benign(0.019),1;KIR2DL4,missense_variant,p.T195I,ENST00000346587,,c.584C>T,MODERATE,,tolerated(0.09),benign(0.007),1;KIR2DL4,missense_variant,p.T178I,ENST00000396293,,c.533C>T,MODERATE,,deleterious(0.04),benign(0.066),1;KIR2DL4,3_prime_UTR_variant,,ENST00000359085,NM_001080772.1,c.*151C>T,MODIFIER,,,,1;KIR3DL1,intron_variant,,ENST00000538269,,c.35-3583C>T,MODIFIER,,,,1;KIR3DL1,intron_variant,,ENST00000541392,,c.35-3583C>T,MODIFIER,,,,1;KIR3DL1,upstream_gene_variant,,ENST00000391728,NM_013289.2,,MODIFIER,YES,,,1;KIR3DL1,upstream_gene_variant,,ENST00000326542,,,MODIFIER,,,,1;KIR3DL1,upstream_gene_variant,,ENST00000402254,,,MODIFIER,,,,1;KIR3DL1,upstream_gene_variant,,ENST00000358178,,,MODIFIER,,,,1;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,,n.934C>T,MODIFIER,,,,1;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000486965,,n.776C>T,MODIFIER,,,,1	T	ENST00000345540	Transcript	missense_variant	missense_variant	881/1447	869/1029	290/342	T/I	aCa/aTa		1		1	KIR2DL4	HGNC	HGNC:6332	protein_coding	YES	CCDS42619.1	ENSP00000339634	Q99706		UPI000013E082	NM_001080770.1	tolerated(0.09)	benign(0.042)	7/7																			MODERATE	1	SNV	1			1											PASS	CTCAACAGATA	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			False	Unknown	T	3	4	72	54813951	54813951	C	T	1	0	0	0	0	1	0	0	0	8183	478	17	3		3	KIR2DL4	19	54813951	Missense_Mutation	SNP	C	TCGA-WC-A888-01A-11D-A39W-08	51695007	54813951	3803665	14	1060											
LIPI	149998	BI	GRCh38	chr21	14181793	14181793	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacatccacaaactttGcatccgtgtaatctaatctg	7	10	2	1	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.671C>A	p.Ala224Glu	p.A224E	ENST00000344577	4/10	72	66	6	53			LIPI,missense_variant,p.A224E,ENST00000344577,NM_198996.2,c.671C>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;LIPI,missense_variant,p.A194E,ENST00000536861,NM_001303000.1&NM_001302998.1,c.581C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;LIPI,missense_variant,p.A194E,ENST00000614229,NM_001302999.1,c.581C>A,MODERATE,,deleterious(0),probably_damaging(1),-1;LIPI,missense_variant,p.A83E,ENST00000400211,,c.246C>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1	T	ENST00000344577	Transcript	missense_variant	missense_variant	697/1652	671/1446	224/481	A/E	gCa/gAa		1		-1	LIPI	HGNC	HGNC:18821	protein_coding	YES	CCDS13564.1	ENSP00000343331	Q6XZB0		UPI000462096D	NM_198996.2	deleterious(0)	probably_damaging(1)	4/10		Pfam_domain:PF00151;Superfamily_domains:SSF53474;PIRSF_domain:PIRSF000865																	MODERATE	1	SNV	1			1											PASS	ACTTTGCATCC	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	T	3	4	72	14181793	14181793	G	T	1	0	0	0	0	1	0	0	0	8746	1319	46	5		5	LIPI	21	14181793	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		14181793	32528190	15	1061											
OSM	5008	BI	GRCh38	chr22	30265064	30265064	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctggagctggccaaGgagcacgcggtactctttcg	13	12	2	0	novel		TCGA-WC-A888-01A-11D-A39W-08	TCGA-WC-A888-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	1fcd43d1-6d9e-483d-bbf1-5729efbc8b18	b43e1b51-25e9-44bb-a804-0159be269c75	c.115C>A	p.Leu39Ile	p.L39I	ENST00000215781	2/3	100	90	10	150			OSM,missense_variant,p.L39I,ENST00000215781,NM_020530.4,c.115C>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.949),-1;OSM,missense_variant,p.L18I,ENST00000403389,,c.52C>A,MODERATE,,deleterious(0.01),probably_damaging(0.949),-1;OSM,intron_variant,,ENST00000403463,,c.35-600C>A,MODIFIER,,,,-1	T	ENST00000215781	Transcript	missense_variant	missense_variant	156/1854	115/759	39/252	L/I	Ctt/Att		1		-1	OSM	HGNC	HGNC:8506	protein_coding	YES	CCDS13873.1	ENSP00000215781	P13725		UPI0000130D33	NM_020530.4	deleterious(0.01)	probably_damaging(0.949)	2/3		Pfam_domain:PF01291;SMART_domains:SM00080;Superfamily_domains:SSF47266																	MODERATE	1	SNV	1			1											PASS	GCCAAGGAGCA	10c6eff1-8302-468b-8a59-9e199e7049a6	80b25efb-c216-4d42-aa40-3976ffe5ea47	9f5e8151-3fcc-483c-8c49-37e2339fc718	339490ef-6cf5-4d05-81b1-5e339e95f678			True	Unknown	T	3	4	72	30265064	30265064	G	T	1	0	0	0	0	1	0	0	0	11358	1000	35	5		5	OSM	22	30265064	Missense_Mutation	SNP	G	TCGA-WC-A888-01A-11D-A39W-08		30265064	20553404	16	1062											
DR1	1810	BI	GRCh38	chr1	93346665	93346665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggcttcctcgtctggcaAcgatgatgatctcactatcc	8	12	2	2	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.20A>G	p.Asn7Ser	p.N7S	ENST00000370267	2/4	124	61	63	114			DR1,missense_variant,p.N7S,ENST00000370272,,c.20A>G,MODERATE,YES,tolerated(0.42),benign(0.006),1;DR1,missense_variant,p.N7S,ENST00000370267,NM_001938.2,c.20A>G,MODERATE,,tolerated(0.42),benign(0.006),1;RP4-717I23.3,upstream_gene_variant,,ENST00000421202,,,MODIFIER,YES,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000452347,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000457387,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000438777,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000449305,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000411670,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000445076,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000451302,,,MODIFIER,,,,-1;RP4-717I23.3,upstream_gene_variant,,ENST00000413606,,,MODIFIER,,,,-1	G	ENST00000370267	Transcript	missense_variant	missense_variant	607/1647	20/531	7/176	N/S	aAc/aGc		1		1	DR1	HGNC	HGNC:3017	protein_coding		CCDS744.1	ENSP00000359290	Q01658	Q658N3	UPI0000136997	NM_001938.2	tolerated(0.42)	benign(0.006)	2/4																			MODERATE		SNV	2			1											PASS	TGGCAACGATG	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	G	3	3	73	93346665	93346665	A	G	1	0	0	0	0	1	0	0	0	4567	43	2	4		4	DR1	1	93346665	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		93346665	155609757	1	1063											
CCR9	10803	BI	GRCh38	chr3	45901664	45901664	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctccaactgtgccgtttcCaccaacattgacatctgctt	5	14	2	1	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.876C>T	p.=	p.S292S	ENST00000357632	3/3	72	68	4	65			CCR9,synonymous_variant,p.S280S,ENST00000355983,NM_001256369.1,c.840C>T,LOW,,,,1;CCR9,synonymous_variant,p.S292S,ENST00000357632,NM_031200.2,c.876C>T,LOW,YES,,,1;CCR9,synonymous_variant,p.S280S,ENST00000395963,NM_006641.3,c.840C>T,LOW,,,,1;CCR9,3_prime_UTR_variant,,ENST00000422395,,c.*638C>T,MODIFIER,,,,1;LZTFL1,intron_variant,,ENST00000536047,NM_001276378.1,c.-138+11456G>A,MODIFIER,,,,-1;LZTFL1,intron_variant,,ENST00000539217,NM_001276379.1,c.27+11456G>A,MODIFIER,,,,-1;Y_RNA,upstream_gene_variant,,ENST00000364765,,,MODIFIER,YES,,,1;LZTFL1,intron_variant,,ENST00000483279,,n.350+11456G>A,MODIFIER,,,,-1;LZTFL1,intron_variant,,ENST00000472635,,n.281+11456G>A,MODIFIER,,,,-1;LZTFL1,intron_variant,,ENST00000492333,,n.297+11456G>A,MODIFIER,,,,-1;LZTFL1,intron_variant,,ENST00000418700,,c.256+11456G>A,MODIFIER,,,,-1;LZTFL1,intron_variant,,ENST00000448111,,c.256+11456G>A,MODIFIER,,,,-1	T	ENST00000357632	Transcript	synonymous_variant	synonymous_variant	1056/2569	876/1110	292/369	S	tcC/tcT		1		1	CCR9	HGNC	HGNC:1610	protein_coding	YES	CCDS2732.1	ENSP00000350256	P51686		UPI0000039DBB	NM_031200.2			3/3		Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR01531;Prints_domain:PR00641;Prints_domain:PR00241;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV	1			1											PASS	GTTTCCACCAA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			False	Unknown	T	2	4	73	45901664	45901664	C	T	1	0	0	0	0	0	0	0	1	2648	581	21	3		3	CCR9	3	45901664	Silent	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		45901664	152393895	2	1064											
BAP1	8314	BI	GRCh38	chr3	52408532	52408563	+	Frame_Shift_Del	DEL	ACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	ACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-													caatcacggacgtatcatccAccaaggtagagacctttcgc					novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.166_197delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT	p.Arg56GlyfsTer2	p.R56Gfs*2	ENST00000460680	4/17	10	0	10	19			BAP1,frameshift_variant,p.R56Gfs*2,ENST00000460680,NM_004656.3,c.166_197delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT,HIGH,YES,,,-1;BAP1,frameshift_variant,p.R56Gfs*2,ENST00000296288,,c.166_197delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT,HIGH,,,,-1;BAP1,5_prime_UTR_variant,,ENST00000470173,,c.-72_-41delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000614886,NM_001278221.1,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000615126,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;PHF7,upstream_gene_variant,,ENST00000472337,,,MODIFIER,,,,1;BAP1,non_coding_transcript_exon_variant,,ENST00000483984,,n.166_197delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT,MODIFIER,,,,-1;BAP1,intron_variant,,ENST00000490917,,c.123-486_123-455delCGCCGGTCCCGGCGAAAGGTCTCTACCTTGGT,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	638-669/3937	166-197/2190	56-66/729	RRSRRKVSTLV/X	CGCCGGTCCCGGCGAAAGGTCTCTACCTTGGTg/g		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			4/17		Low_complexity_(Seg):Seg;Pfam_domain:PF01088;Superfamily_domains:SSF54001																	HIGH	1	deletion	1			1											PASS	TCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTT	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			False	Unknown	-	7	5	73	52408532	52408532	ACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	-	1	0	1	0	1	0	0	0	0	1463	159	6	0		0	BAP1	3	52408532	Frame_Shift_Del	DEL	ACCAAGGTAGAGACCTTTCGCCGGGACCGGCG	TCGA-WC-A88A-01A-11D-A39W-08	6506868	52408532	145887027	3	1065											
ZSCAN16	80345	BI	GRCh38	chr6	28129562	28129562	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctaagtccaaagatattaTtgaaaatgagggcagatcag	9	6	1	4	rs773429225	byFrequency	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.659T>C	p.Ile220Thr	p.I220T	ENST00000340487	4/4	100	42	58	44			ZSCAN16,missense_variant,p.I220T,ENST00000340487,NM_025231.1,c.659T>C,MODERATE,YES,tolerated(0.27),benign(0),1;ZSCAN16-AS1,intron_variant,,ENST00000600652,,n.550-3743A>G,MODIFIER,YES,,,-1;ZSCAN16-AS1,intron_variant,,ENST00000602810,,n.123-6351A>G,MODIFIER,,,,-1	C	ENST00000340487	Transcript	missense_variant	missense_variant	808/1328	659/1047	220/348	I/T	aTt/aCt	rs773429225	1		1	ZSCAN16	HGNC	HGNC:20813	protein_coding	YES	CCDS4644.1	ENSP00000366527	Q9H4T2			NM_025231.1	tolerated(0.27)	benign(0)	4/4																			MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	0	0	0.0001212		PASS	TATTATTGAAA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	C	3	2	73	28129562	28129562	T	C	1	0	0	0	0	1	0	0	0	18823	1493	52	4		4	ZSCAN16	6	28129562	Missense_Mutation	SNP	T	TCGA-WC-A88A-01A-11D-A39W-08		28129562	142676417	4	1066											
GAL3ST4	79690	BI	GRCh38	chr7	100160808	100160808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccaggcctgtagaagCctcgaggattggccaggaag	16	11	0	1	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.581G>A	p.Gly194Asp	p.G194D	ENST00000360039	4/4	92	62	30	54			GAL3ST4,missense_variant,p.G194D,ENST00000360039,NM_024637.4,c.581G>A,MODERATE,YES,tolerated(0.19),benign(0.049),-1;GAL3ST4,missense_variant,p.G194D,ENST00000413800,,c.581G>A,MODERATE,,tolerated(0.19),benign(0.049),-1;GAL3ST4,missense_variant,p.A93T,ENST00000423751,,c.277G>A,MODERATE,,,unknown(0),-1;GAL3ST4,missense_variant,p.A93T,ENST00000411994,,c.277G>A,MODERATE,,,unknown(0),-1;C7orf43,upstream_gene_variant,,ENST00000316937,NM_018275.3,,MODIFIER,YES,,,-1;C7orf43,upstream_gene_variant,,ENST00000456769,NM_001303470.1,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000457641,,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000419841,,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000394035,,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000612870,,,MODIFIER,,,,-1;LAMTOR4,downstream_gene_variant,,ENST00000490633,,,MODIFIER,,,,1;MIR4658,upstream_gene_variant,,ENST00000584344,,,MODIFIER,YES,,,-1;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000498000,,n.500G>A,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000498638,,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000472061,,,MODIFIER,,,,-1;GAL3ST4,non_coding_transcript_exon_variant,,ENST00000495882,,n.1598G>A,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000419037,,,MODIFIER,,,,-1;C7orf43,upstream_gene_variant,,ENST00000448720,,,MODIFIER,,,,-1	T	ENST00000360039	Transcript	missense_variant	missense_variant	974/2537	581/1461	194/486	G/D	gGc/gAc		1		-1	GAL3ST4	HGNC	HGNC:24145	protein_coding	YES	CCDS5688.1	ENSP00000353142	Q96RP7			NM_024637.4	tolerated(0.19)	benign(0.049)	4/4		Pfam_domain:PF06990;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	AGAAGCCTCGA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	T	3	4	73	100160808	100160808	C	T	1	0	0	0	0	1	0	0	0	6068	739	26	3		3	GAL3ST4	7	100160808	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		100160808	59185165	5	1067											
SVEP1	79987	BI	GRCh38	chr9	110503130	110503130	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccttcatcacaggcaAccaaacatgttgtcttatat	5	11	3	0	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.1391T>C	p.Val464Ala	p.V464A	ENST00000374469	6/48	95	51	44	61			SVEP1,missense_variant,p.V464A,ENST00000401783,,c.1391T>C,MODERATE,YES,tolerated(0.18),benign(0.019),-1;SVEP1,missense_variant,p.V464A,ENST00000374469,NM_153366.3,c.1391T>C,MODERATE,,,benign(0.032),-1;SVEP1,missense_variant,p.V464A,ENST00000374461,,c.1391T>C,MODERATE,,tolerated(0.18),benign(0.015),-1;SVEP1,non_coding_transcript_exon_variant,,ENST00000467821,,n.810T>C,MODIFIER,,,,-1	G	ENST00000374469	Transcript	missense_variant	missense_variant	1586/12194	1391/10716	464/3571	V/A	gTt/gCt		1		-1	SVEP1	HGNC	HGNC:15985	protein_coding			ENSP00000363593	Q4LDE5	A0A075B6H2	UPI000153DA74	NM_153366.3		benign(0.032)	6/48		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	MODERATE		SNV	5			1											PASS	AGGCAACCAAA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	G	3	3	73	110503130	110503130	A	G	1	0	0	0	0	1	0	0	0	15805	43	2	4		4	SVEP1	9	110503130	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		110503130	27891587	6	1068											
PRDM11	56981	BI	GRCh38	chr11	45182963	45182963	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggcatcccagaccgggCggcgctcaccatcccacagg	13	17	1	1	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.428C>G	p.Ala143Gly	p.A143G	ENST00000530656	4/7	62	33	29	30			PRDM11,missense_variant,p.A109G,ENST00000622142,NM_001256695.1,c.326C>G,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.991),1;PRDM11,missense_variant,p.A73G,ENST00000534751,,c.216C>G,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.947),1;PRDM11,missense_variant,p.A109G,ENST00000424263,NM_001256696.1,c.326C>G,MODERATE,,deleterious(0),probably_damaging(0.986),1;PRDM11,missense_variant,p.A143G,ENST00000530656,,c.428C>G,MODERATE,,deleterious(0),probably_damaging(0.986),1;PRDM11,missense_variant,p.A109G,ENST00000526442,,c.326C>G,MODERATE,,deleterious(0.01),probably_damaging(0.986),1;PRDM11,non_coding_transcript_exon_variant,,ENST00000528980,,n.47C>G,MODIFIER,,,,1	G	ENST00000530656	Transcript	missense_variant	missense_variant	428/1536	428/1536	143/511	A/G	gCg/gGg		1		1	PRDM11	HGNC	HGNC:13996	protein_coding			ENSP00000435976	Q9NQV5		UPI000013D45B		deleterious(0)	probably_damaging(0.986)	4/7																			MODERATE		SNV	2			1											PASS	CCGGGCGGCGC	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	G	3	3	73	45182963	45182963	C	G	1	0	0	0	0	1	0	0	0	12583	768	27	5		5	PRDM11	11	45182963	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		45182963	89903659	7	1069											
SCARB1	949	BI	GRCh38	chr12	124814302	124814302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagccccacatgatctcaCccacagtgcggttcatgaag	9	13	2	2	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.530G>A	p.Gly177Asp	p.G177D	ENST00000415380	4/12	73	68	5	34			SCARB1,missense_variant,p.G177D,ENST00000339570,NM_001082959.1,c.530G>A,MODERATE,,tolerated(0.09),benign(0.162),-1;SCARB1,missense_variant,p.G177D,ENST00000415380,,c.530G>A,MODERATE,,tolerated(0.06),benign(0.314),-1;SCARB1,missense_variant,p.G177D,ENST00000261693,NM_005505.4,c.530G>A,MODERATE,YES,tolerated(0.1),benign(0.114),-1;SCARB1,missense_variant,p.G123D,ENST00000544327,,c.368G>A,MODERATE,,tolerated(0.11),benign(0.208),-1;SCARB1,missense_variant,p.G177D,ENST00000546215,,c.530G>A,MODERATE,,tolerated(0.1),benign(0.182),-1;SCARB1,downstream_gene_variant,,ENST00000545493,,,MODIFIER,,,,-1;SCARB1,non_coding_transcript_exon_variant,,ENST00000535005,,n.845G>A,MODIFIER,,,,-1;SCARB1,downstream_gene_variant,,ENST00000539320,,,MODIFIER,,,,-1;SCARB1,downstream_gene_variant,,ENST00000541661,,,MODIFIER,,,,-1;SCARB1,non_coding_transcript_exon_variant,,ENST00000538291,,n.673G>A,MODIFIER,,,,-1	T	ENST00000415380	Transcript	missense_variant	missense_variant	656/2731	530/1659	177/552	G/D	gGt/gAt		1		-1	SCARB1	HGNC	HGNC:1664	protein_coding			ENSP00000414979	Q8WTV0		UPI000006E977		tolerated(0.06)	benign(0.314)	4/12		Pfam_domain:PF01130																	MODERATE		SNV	2			1											PASS	TCTCACCCACA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	T	3	4	73	124814302	124814302	C	T	1	0	0	0	0	1	0	0	0	14147	507	18	3		3	SCARB1	12	124814302	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		124814302	8461007	8	1070											
NOC4L	79050	BI	GRCh38	chr12	132148852	132148852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctgccgcagctggcgcaGcccacgctcatgatcgactt	10	16	1	1	rs529616528	by1000G;byFrequency	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.858G>T	p.Gln286His	p.Q286H	ENST00000330579	9/15	14	10	4	27			NOC4L,missense_variant,p.Q286H,ENST00000330579,NM_024078.1,c.858G>T,MODERATE,YES,deleterious(0.04),benign(0.003),1;NOC4L,missense_variant,p.Q253H,ENST00000541954,,c.759G>T,MODERATE,,deleterious(0.03),benign(0.275),1;DDX51,upstream_gene_variant,,ENST00000397333,NM_175066.3,,MODIFIER,YES,,,-1;NOC4L,non_coding_transcript_exon_variant,,ENST00000535343,,n.381G>T,MODIFIER,,,,1;NOC4L,upstream_gene_variant,,ENST00000538784,,,MODIFIER,,,,1	T	ENST00000330579	Transcript	missense_variant	missense_variant	899/1632	858/1551	286/516	Q/H	caG/caT	rs529616528	1		1	NOC4L	HGNC	HGNC:28461	protein_coding	YES	CCDS9277.1	ENSP00000328854	Q9BVI4		UPI00000723C4	NM_024078.1	deleterious(0.04)	benign(0.003)	9/15																			MODERATE	1	SNV	1			1	8.284e-06	1.074e-05	0	0	0	0	1.916e-05	0	0		PASS	GCGCAGCCCAC	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7		COSM1605817	True	Unknown	T	3	4	73	132148852	132148852	G	T	1	0	0	0	0	1	0	0	0	10557	962	34	5		5	NOC4L	12	132148852	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08	7334550	132148852	1126457	9	1071											
PLCB2	5330	BI	GRCh38	chr15	40298938	40298938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttggtcaggtgctccttcGtcatgtagggtttggcctta	12	8	2	0	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.710C>T	p.Thr237Met	p.T237M	ENST00000260402	9/32	95	49	46	89			PLCB2,missense_variant,p.T237M,ENST00000260402,NM_004573.2,c.710C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.898),-1;PLCB2,missense_variant,p.T237M,ENST00000557821,NM_001284297.1,c.710C>T,MODERATE,,deleterious(0),probably_damaging(0.928),-1;PLCB2,missense_variant,p.T237M,ENST00000456256,NM_001284298.1,c.710C>T,MODERATE,,deleterious(0),possibly_damaging(0.898),-1;PLCB2,downstream_gene_variant,,ENST00000543785,NM_001284299.1,,MODIFIER,,,,-1;PLCB2-AS1,upstream_gene_variant,,ENST00000559520,,,MODIFIER,YES,,,1;PLCB2,non_coding_transcript_exon_variant,,ENST00000558588,,n.731C>T,MODIFIER,,,,-1;PLCB2,non_coding_transcript_exon_variant,,ENST00000560093,,n.189C>T,MODIFIER,,,,-1;PLCB2,downstream_gene_variant,,ENST00000559634,,,MODIFIER,,,,-1;PLCB2,upstream_gene_variant,,ENST00000558409,,,MODIFIER,,,,-1	A	ENST00000260402	Transcript	missense_variant	missense_variant	960/4616	710/3558	237/1185	T/M	aCg/aTg		1		-1	PLCB2	HGNC	HGNC:9055	protein_coding	YES	CCDS42020.1	ENSP00000260402	Q00722		UPI0000D79B75	NM_004573.2	deleterious(0)	possibly_damaging(0.898)	9/32		Pfam_domain:PF09279;Superfamily_domains:SSF47473;PIRSF_domain:PIRSF000956																	MODERATE	1	SNV	2			1											PASS	CCTTCGTCATG	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	A	3	1	73	40298938	40298938	G	A	1	0	0	0	0	1	0	0	0	12122	1145	40	1		1	PLCB2	15	40298938	Missense_Mutation	SNP	G	TCGA-WC-A88A-01A-11D-A39W-08		40298938	61692251	10	1072											
CPEB1	64506	BI	GRCh38	chr15	82549515	82549515	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcatacaccactccaccaaaTaggtcgttcaagatggctgc	8	13	1	1	rs368407272	by1000G;byCluster	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.1344A>G	p.=	p.L448L	ENST00000615198	9/12	55	37	18	45			CPEB1,synonymous_variant,p.L475L,ENST00000614918,,c.1425A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L448L,ENST00000611031,,c.1344A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L513L,ENST00000617958,,c.1539A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L378L,ENST00000618449,NM_001079533.1,c.1134A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L373L,ENST00000620182,NM_001288819.1,c.1119A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L373L,ENST00000617522,,c.1119A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L448L,ENST00000615198,NM_030594.4,c.1344A>G,LOW,YES,,,-1;CPEB1,synonymous_variant,p.L373L,ENST00000617462,NM_001079535.1,c.1119A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L451L,ENST00000616959,,c.1353A>G,LOW,,,,-1;CPEB1,synonymous_variant,p.L373L,ENST00000611163,NM_001288820.1&NM_001079534.1,c.1119A>G,LOW,,,,-1;RP11-152F13.10,synonymous_variant,p.L183L,ENST00000562833,,c.548A>G,LOW,YES,,,-1;RP11-379H8.1,intron_variant,,ENST00000621893,,n.226+744T>C,MODIFIER,YES,,,1;CPEB1,3_prime_UTR_variant,,ENST00000614977,,c.*475A>G,MODIFIER,,,,-1;CPEB1,non_coding_transcript_exon_variant,,ENST00000618698,,n.1152A>G,MODIFIER,,,,-1	C	ENST00000615198	Transcript	synonymous_variant	synonymous_variant	1451/2112	1344/1686	448/561	L	ctA/ctG	rs368407272	1		-1	CPEB1	HGNC	HGNC:21744	protein_coding	YES	CCDS45329.2	ENSP00000477715	Q9BZB8		UPI000018CEBD	NM_030594.4			9/12		PROSITE_profiles:PS50102;Superfamily_domains:SSF54928	2e-04	8e-04	0		0	0	0	0	1e-04								LOW	1	SNV	1			1	3.307e-05	3.313e-05	0	0	0	0	0	0	0.0002422		PASS	CCAAATAGGTC	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	C	2	2	73	82549515	82549515	T	C	1	0	0	0	0	0	0	0	1	3594	1393	49	4		4	CPEB1	15	82549515	Silent	SNP	T	TCGA-WC-A88A-01A-11D-A39W-08	42250577	82549515	19441674	11	1073											
BNC1	646	BI	GRCh38	chr15	83268171	83268171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcattggtcacactgaCggtggtttattttcccgggt	12	9	1	1	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.161G>A	p.Arg54His	p.R54H	ENST00000345382	2/5	73	39	34	65			BNC1,missense_variant,p.R54H,ENST00000345382,NM_001717.3,c.161G>A,MODERATE,YES,deleterious(0),probably_damaging(0.912),-1;BNC1,missense_variant,p.R53H,ENST00000618086,,c.158G>A,MODERATE,,deleterious(0),probably_damaging(0.939),-1;BNC1,missense_variant,p.R47H,ENST00000569704,NM_001301206.1,c.140G>A,MODERATE,,deleterious(0),probably_damaging(0.986),-1;RP11-382A20.4,intron_variant,,ENST00000565495,,n.264+83103C>T,MODIFIER,,,,1	T	ENST00000345382	Transcript	missense_variant	missense_variant	247/4610	161/2985	54/994	R/H	cGt/cAt		1		-1	BNC1	HGNC	HGNC:1081	protein_coding	YES	CCDS10324.1	ENSP00000307041	Q01954			NM_001717.3	deleterious(0)	probably_damaging(0.912)	2/5																			MODERATE	1	SNV	1			1											PASS	ACTGACGGTGG	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	T	3	4	73	83268171	83268171	C	T	1	0	0	0	0	1	0	0	0	1630	536	19	1		1	BNC1	15	83268171	Missense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	718656	83268171	18723018	12	1074											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	69	42	27	54			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7		COSM52969	True	Unknown	T	3	4	73	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		3118944	55498672	13	1075											
MEGF8	1954	BI	GRCh38	chr19	42335346	42335346	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctatacaacttctcCgccaacacctgggagtcttg	7	15	2	0	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.789C>A	p.=	p.S263S	ENST00000251268	5/42	68	64	4	71			MEGF8,synonymous_variant,p.S263S,ENST00000334370,NM_001410.2,c.789C>A,LOW,,,,1;MEGF8,synonymous_variant,p.S263S,ENST00000251268,NM_001271938.1,c.789C>A,LOW,YES,,,1;MEGF8,5_prime_UTR_variant,,ENST00000378073,,c.-6297C>A,MODIFIER,,,,1	A	ENST00000251268	Transcript	synonymous_variant	synonymous_variant	789/9549	789/8538	263/2845	S	tcC/tcA		1		1	MEGF8	HGNC	HGNC:3233	protein_coding	YES	CCDS62693.1	ENSP00000251268	Q7Z7M0		UPI00005788D1	NM_001271938.1			5/42		Superfamily_domains:SSF117281																	LOW	1	SNV	5			1											PASS	TTCTCCGCCAA	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			True	Unknown	A	2	1	73	42335346	42335346	C	A	1	0	0	0	0	0	0	0	1	9403	639	23	5		5	MEGF8	19	42335346	Silent	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08	39216402	42335346	16282270	14	1076											
PPARA	5465	BI	GRCh38	chr22	46219826	46219826	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctagcgattcgttttggaCgaatgccaagatctgagaaa	10	9	1	2	rs764930526	byFrequency	TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.523C>T	p.Arg175Ter	p.R175*	ENST00000262735	6/8	73	59	14	57			PPARA,stop_gained,p.R175*,ENST00000407236,,c.523C>T,HIGH,YES,,,1;PPARA,stop_gained,p.R175*,ENST00000262735,NM_005036.4&NM_001001928.2,c.523C>T,HIGH,,,,1;PPARA,stop_gained,p.R175*,ENST00000402126,,c.523C>T,HIGH,,,,1;PPARA,downstream_gene_variant,,ENST00000420804,,,MODIFIER,,,,1;PPARA,non_coding_transcript_exon_variant,,ENST00000493286,,n.733C>T,MODIFIER,,,,1	T	ENST00000262735	Transcript	stop_gained	stop_gained	705/9965	523/1407	175/468	R/*	Cga/Tga	rs764930526	1		1	PPARA	HGNC	HGNC:9232	protein_coding		CCDS33669.1	ENSP00000262735	Q07869	F1D8S4	UPI000000D8E0	NM_005036.4;NM_001001928.2			6/8		Superfamily_domains:SSF57716																	HIGH		SNV	5			1	3.295e-05	3.3e-05	0	0	0	0	4.505e-05	0	6.058e-05		PASS	TTGGACGAATG	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7		COSM1736297	True	Unknown	T	4	4	73	46219826	46219826	C	T	1	0	0	0	0	0	1	0	0	12406	528	19	1		1	PPARA	22	46219826	Nonsense_Mutation	SNP	C	TCGA-WC-A88A-01A-11D-A39W-08		46219826	4598642	15	1077											
AR	367	BI	GRCh38	chrX	67545928	67545928	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatctgagtccaggggAacagcttcggggggattgca	17	8	1	1	novel		TCGA-WC-A88A-01A-11D-A39W-08	TCGA-WC-A88A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7fa547f0-0f26-4820-b656-91fd80de778f	5988ab24-4371-4065-97bd-e0c7aa7fa1b1	c.782A>T	p.Glu261Val	p.E261V	ENST00000374690	1/8	31	28	3	39			AR,missense_variant,p.E71V,ENST00000612452,,c.212A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;AR,missense_variant,p.E261V,ENST00000396044,,c.782A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.986),1;AR,missense_variant,p.E261V,ENST00000374690,NM_000044.3,c.782A>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.92),1;AR,missense_variant,p.E261V,ENST00000612010,,c.782A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.978),1;AR,missense_variant,p.E261V,ENST00000504326,,c.782A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.98),1;AR,missense_variant,p.E261V,ENST00000613054,,c.782A>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.906),1;AL049564.1,downstream_gene_variant,,ENST00000630292,,,MODIFIER,YES,,,1;AR,non_coding_transcript_exon_variant,,ENST00000513847,,n.1109A>T,MODIFIER,,,,1;AR,missense_variant,p.E261V,ENST00000514029,,c.782A>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1	T	ENST00000374690	Transcript	missense_variant	missense_variant	1306/10065	782/2763	261/920	E/V	gAa/gTa		1		1	AR	HGNC	HGNC:644	protein_coding	YES	CCDS14387.1	ENSP00000363822		A0A0B4J1T2	UPI0000167B08	NM_000044.3	deleterious_low_confidence(0)	probably_damaging(0.92)	1/8		Pfam_domain:PF02166																	MODERATE	1	SNV	1			1											PASS	AGGGGAACAGC	51995983-11b6-4657-808c-a9193bda2efb	e78fc967-8bea-468a-81b0-1fde52b961d0	6b99ed7a-cc5b-4996-937d-8eb34ada937f	4e531546-56f1-4165-94a2-ee45abd5e0f7			False	Unknown	T	3	4	73	67545928	67545928	A	T	1	0	0	0	0	1	0	0	0	958	246	9	5		5	AR	23	67545928	Missense_Mutation	SNP	A	TCGA-WC-A88A-01A-11D-A39W-08		67545928	88494967	16	1078											
SF3B1	23451	BI	GRCh38	chr2	197402636	197402636	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagctatctgttgtacaatcTtaataccagtgtgtctcgct	7	9	3	0	rs374250186	byCluster;byFrequency	TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.1997A>C	p.Lys666Thr	p.K666T	ENST00000335508	14/25	65	37	28	46			SF3B1,missense_variant,p.K666T,ENST00000335508,NM_012433.2,c.1997A>C,MODERATE,YES,deleterious(0),probably_damaging(0.994),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	G	ENST00000335508	Transcript	missense_variant	missense_variant	2089/6526	1997/3915	666/1304	K/T	aAg/aCg	rs374250186	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(0.994)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	2.471e-05	2.473e-05	0	0	0	0	4.497e-05	0	0		PASS	CAATCTTAATA	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60		COSM131556	True	Unknown	G	3	3	74	197402636	197402636	T	G	1	0	0	0	0	1	0	0	0	14428	1609	56	5		5	SF3B1	2	197402636	Missense_Mutation	SNP	T	TCGA-WC-AA9A-01A-11D-A39W-08		197402636	44790893	1	1079											
BAP1	8314	BI	GRCh38	chr3	52407201	52407201	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aatggggtagaccttcagccCatccagctcaaagagccggc	11	13	2	2	novel		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.553G>C	p.Gly185Arg	p.G185R	ENST00000460680	7/17	21	0	21	41			BAP1,missense_variant,p.G185R,ENST00000460680,NM_004656.3,c.553G>C,MODERATE,YES,deleterious(0.04),possibly_damaging(0.856),-1;BAP1,missense_variant,p.G185R,ENST00000296288,,c.553G>C,MODERATE,,deleterious(0.04),possibly_damaging(0.775),-1;BAP1,missense_variant,p.G106R,ENST00000470173,,c.316G>C,MODERATE,,deleterious(0.02),possibly_damaging(0.856),-1;PHF7,upstream_gene_variant,,ENST00000327906,NM_016483.5,,MODIFIER,YES,,,1;PHF7,upstream_gene_variant,,ENST00000620464,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000347025,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000482327,,,MODIFIER,,,,1;BAP1,3_prime_UTR_variant,,ENST00000490917,,c.*294G>C,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000471532,,n.268G>C,MODIFIER,,,,-1;BAP1,intron_variant,,ENST00000483984,,n.437+198G>C,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;PHF7,upstream_gene_variant,,ENST00000473145,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1	G	ENST00000460680	Transcript	missense_variant	missense_variant	1025/3937	553/2190	185/729	G/R	Ggg/Cgg		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3	deleterious(0.04)	possibly_damaging(0.856)	7/17		Pfam_domain:PF01088;Prints_domain:PR00707;Superfamily_domains:SSF54001																	MODERATE	1	SNV	1			1											PASS	CAGCCCATCCA	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60			True	Unknown	G	3	3	74	52407201	52407201	C	G	1	0	0	0	0	1	0	0	0	1463	594	21	5		5	BAP1	3	52407201	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		52407201	145888358	2	1080											
FBXL17	64839	BI	GRCh38	chr5	107881056	107881056	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttatcacatctcatcagcCccaaatatctcagagacttg	4	13	4	1	novel		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.1946G>T	p.Gly649Val	p.G649V	ENST00000542267	8/9	141	90	51	116			FBXL17,missense_variant,p.G649V,ENST00000542267,NM_001163315.2,c.1946G>T,MODERATE,YES,deleterious(0.01),benign(0.383),-1;FBXL17,missense_variant,p.G251V,ENST00000359660,,c.752G>T,MODERATE,,deleterious(0),benign(0.383),-1;FBXL17,missense_variant,p.G411V,ENST00000619412,,c.1232G>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;FBXL17,missense_variant,p.G251V,ENST00000496714,,c.752G>T,MODERATE,,deleterious(0),possibly_damaging(0.81),-1	A	ENST00000542267	Transcript	missense_variant	missense_variant	2353/5188	1946/2106	649/701	G/V	gGg/gTg		1		-1	FBXL17	HGNC	HGNC:13615	protein_coding	YES	CCDS54886.1	ENSP00000437464	Q9UF56		UPI00019B21FB	NM_001163315.2	deleterious(0.01)	benign(0.383)	8/9		SMART_domains:SM00367;Superfamily_domains:SSF52047																	MODERATE	1	SNV	1			1											PASS	TCAGCCCCAAA	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60			True	Unknown	A	3	1	74	107881056	107881056	C	A	1	0	0	0	0	1	0	0	0	5577	623	22	5		5	FBXL17	5	107881056	Missense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08		107881056	73657203	3	1081											
APC	324	BI	GRCh38	chr5	112844005	112844005	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacttcagctcggccatctcAgatcccaactccagtgaata	6	15	2	2	novel		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.8411A>C	p.Gln2804Pro	p.Q2804P	ENST00000257430	16/16	89	41	48	52			APC,missense_variant,p.Q2804P,ENST00000257430,NM_000038.5,c.8411A>C,MODERATE,YES,,probably_damaging(0.999),1;APC,missense_variant,p.Q2804P,ENST00000508376,NM_001127510.2,c.8411A>C,MODERATE,,,probably_damaging(0.999),1;APC,downstream_gene_variant,,ENST00000512211,,,MODIFIER,,,,1;APC,downstream_gene_variant,,ENST00000507379,NM_001127511.2,,MODIFIER,,,,1;CTC-554D6.1,intron_variant,,ENST00000520401,,c.231-12644A>C,MODIFIER,YES,,,1;APC,downstream_gene_variant,,ENST00000508624,,,MODIFIER,,,,1;APC,downstream_gene_variant,,ENST00000502371,,,MODIFIER,,,,1	C	ENST00000257430	Transcript	missense_variant	missense_variant	8467/10701	8411/8532	2804/2843	Q/P	cAg/cCg		1		1	APC	HGNC	HGNC:583	protein_coding	YES	CCDS4107.1	ENSP00000257430	P25054		UPI000013CF60	NM_000038.5		probably_damaging(0.999)	16/16		Pfam_domain:PF05937																	MODERATE		SNV	5			1											PASS	ATCTCAGATCC	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60			True	Unknown	C	3	2	74	112844005	112844005	A	C	1	0	0	0	0	1	0	0	0	883	188	7	5		5	APC	5	112844005	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08	4962949	112844005	68694254	4	1082											
FLRT1	23769	BI	GRCh38	chr11	64116944	64116944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcaacagcctgcggcGcctggtgctggacggtaacc	15	14	1	0	rs771760157	byFrequency	TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.677G>A	p.Arg226His	p.R226H	ENST00000246841	2/2	25	18	7	25			FLRT1,missense_variant,p.R226H,ENST00000246841,NM_013280.4,c.677G>A,MODERATE,YES,tolerated(0.06),possibly_damaging(0.581),1;MACROD1,intron_variant,,ENST00000255681,NM_014067.3,c.517+34295C>T,MODIFIER,YES,,,-1;RP11-21A7A.3,downstream_gene_variant,,ENST00000543817,,,MODIFIER,YES,,,-1;MACROD1,intron_variant,,ENST00000542359,,n.298+34295C>T,MODIFIER,,,,-1;MACROD1,intron_variant,,ENST00000543422,,n.81+9910C>T,MODIFIER,,,,-1;MACROD1,intron_variant,,ENST00000545464,,n.629+34295C>T,MODIFIER,,,,-1	A	ENST00000246841	Transcript	missense_variant	missense_variant	1720/3949	677/2025	226/674	R/H	cGc/cAc	rs771760157	1		1	FLRT1	HGNC	HGNC:3760	protein_coding	YES	CCDS8057.1	ENSP00000246841	Q9NZU1		UPI0000039F94	NM_013280.4	tolerated(0.06)	possibly_damaging(0.581)	2/2		SMART_domains:SM00369;Superfamily_domains:SSF52058																	MODERATE	1	SNV	1			1	4.119e-05	3.402e-05	0	0	0	0	6.218e-05	0	0		PASS	GCGGCGCCTGG	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60		COSM1207245	True	Unknown	A	3	1	74	64116944	64116944	G	A	1	0	0	0	0	1	0	0	0	5794	1087	38	2		2	FLRT1	11	64116944	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		64116944	70969678	5	1083											
CNPY2	10330	BI	GRCh38	chr12	56311288	56311288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcactggattctccattccGgcccactacacgtacgtagt	7	14	2	0	rs768166554	byFrequency	TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.331C>T	p.Arg111Trp	p.R111W	ENST00000273308	4/6	223	123	100	148			CNPY2,missense_variant,p.R111W,ENST00000273308,NM_014255.5,c.331C>T,MODERATE,YES,deleterious(0),probably_damaging(0.966),-1;RP11-977G19.10,missense_variant,p.R111W,ENST00000549318,,c.331C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.632),-1;CNPY2,missense_variant,p.R111W,ENST00000551475,,c.331C>T,MODERATE,,deleterious(0),probably_damaging(0.966),-1;CNPY2,missense_variant,p.R59W,ENST00000551286,,c.175C>T,MODERATE,,deleterious(0),probably_damaging(0.966),-1;RP11-977G19.10,intron_variant,,ENST00000547423,,c.204+3563C>T,MODIFIER,,,,-1;RP11-977G19.10,intron_variant,,ENST00000548360,,c.204+3563C>T,MODIFIER,,,,-1;PAN2,downstream_gene_variant,,ENST00000425394,NM_001127460.2,,MODIFIER,YES,,,-1;PAN2,downstream_gene_variant,,ENST00000610546,,,MODIFIER,,,,-1;RP11-977G19.11,intron_variant,,ENST00000549860,,n.158-3241G>A,MODIFIER,YES,,,1;RP11-977G19.11,intron_variant,,ENST00000549565,,n.47-1119G>A,MODIFIER,,,,1;RP11-977G19.12,downstream_gene_variant,,ENST00000546789,,,MODIFIER,YES,,,1;CNPY2,downstream_gene_variant,,ENST00000551720,,,MODIFIER,,,,-1;CNPY2,downstream_gene_variant,,ENST00000551276,,,MODIFIER,,,,-1;CNPY2,missense_variant,p.R9W,ENST00000546466,,c.25C>T,MODERATE,,deleterious(0),probably_damaging(0.966),-1;CNPY2,3_prime_UTR_variant,,ENST00000553191,,c.*160C>T,MODIFIER,,,,-1;CNPY2,non_coding_transcript_exon_variant,,ENST00000546937,,n.642C>T,MODIFIER,,,,-1;CNPY2,downstream_gene_variant,,ENST00000548013,,,MODIFIER,,,,-1;CNPY2,downstream_gene_variant,,ENST00000546388,,,MODIFIER,,,,-1;CNPY2,downstream_gene_variant,,ENST00000553164,,,MODIFIER,,,,-1;CNPY2,downstream_gene_variant,,ENST00000547570,,,MODIFIER,,,,-1	A	ENST00000273308	Transcript	missense_variant	missense_variant	872/1214	331/549	111/182	R/W	Cgg/Tgg	rs768166554	1		-1	CNPY2	HGNC	HGNC:13529	protein_coding	YES	CCDS8914.1	ENSP00000273308	Q9Y2B0		UPI000004C630	NM_014255.5	deleterious(0)	probably_damaging(0.966)	4/6		Pfam_domain:PF11938;PROSITE_profiles:PS50015;Superfamily_domains:SSF47862																	MODERATE	1	SNV	1			1	3.295e-05	3.295e-05	0	0	0.0001156	0	2.997e-05	0	6.056e-05		PASS	ATTCCGGCCCA	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60			True	Unknown	A	3	1	74	56311288	56311288	G	A	1	0	0	0	0	1	0	0	0	3410	1115	39	2		2	CNPY2	12	56311288	Missense_Mutation	SNP	G	TCGA-WC-AA9A-01A-11D-A39W-08		56311288	76964021	6	1084											
TPCN1	53373	BI	GRCh38	chr12	113285941	113285941	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggccctgtggagtaCttgtcttccggatggaactt	14	10	1	0	novel		TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.1506C>G	p.Tyr502Ter	p.Y502*	ENST00000335509	18/28	77	32	45	55			TPCN1,stop_gained,p.Y574*,ENST00000550785,NM_001143819.1&NM_001301214.1,c.1722C>G,HIGH,YES,,,1;TPCN1,stop_gained,p.Y502*,ENST00000335509,NM_017901.4&NM_001301214.1,c.1506C>G,HIGH,,,,1;TPCN1,stop_gained,p.Y574*,ENST00000541517,,c.1722C>G,HIGH,,,,1;TPCN1,stop_gained,p.Y434*,ENST00000392569,,c.1302C>G,HIGH,,,,1;TPCN1,stop_gained,p.Y171*,ENST00000546781,,c.511C>G,HIGH,,,,1;TPCN1,stop_gained,p.Y37*,ENST00000547955,,c.109C>G,HIGH,,,,1;TPCN1,non_coding_transcript_exon_variant,,ENST00000552077,,n.1772C>G,MODIFIER,,,,1;TPCN1,non_coding_transcript_exon_variant,,ENST00000551127,,n.480C>G,MODIFIER,,,,1;TPCN1,non_coding_transcript_exon_variant,,ENST00000428632,,n.1635C>G,MODIFIER,,,,1;TPCN1,non_coding_transcript_exon_variant,,ENST00000550543,,n.120C>G,MODIFIER,,,,1;TPCN1,upstream_gene_variant,,ENST00000546907,,,MODIFIER,,,,1	G	ENST00000335509	Transcript	stop_gained	stop_gained	1820/5274	1506/2451	502/816	Y/*	taC/taG		1		1	TPCN1	HGNC	HGNC:18182	protein_coding		CCDS31908.1	ENSP00000335300	Q9ULQ1		UPI0000041252	NM_017901.4;NM_001301214.1			18/28		Pfam_domain:PF00520;Superfamily_domains:SSF81324																	HIGH		SNV	1			1											PASS	GAGTACTTGTC	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60			True	Unknown	G	4	3	74	113285941	113285941	C	G	1	0	0	0	0	0	1	0	0	16874	576	20	5		5	TPCN1	12	113285941	Nonsense_Mutation	SNP	C	TCGA-WC-AA9A-01A-11D-A39W-08	56974653	113285941	19989368	7	1085											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-WC-AA9A-01A-11D-A39W-08	TCGA-WC-AA9A-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	d7085559-a11b-4892-a575-5dd34dd1ea5b	b1d978ea-0c97-4a80-96e6-f9de780b6f68	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	50	33	17	58			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	91bdf761-30e2-4fad-b579-1117dddf633f	c72bc3ce-d7b8-481f-98db-71871a7cb2f7	8cd0f763-1d9b-4392-8d5b-8f3fee3d0c77	01b18f83-da8a-4d3f-b722-f00fe7559c60		COSM52969	True	Unknown	T	3	4	74	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-WC-AA9A-01A-11D-A39W-08		3118944	55498672	8	1086											
NUP210L	91181	BI	GRCh38	chr1	154127395	154127395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccacctctagactccatcgGtttccaggttggacagtgaa	9	13	1	2	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1101C>A	p.Asn367Lys	p.N367K	ENST00000368559	9/40	46	43	3	53			NUP210L,missense_variant,p.N367K,ENST00000368559,NM_207308.2,c.1101C>A,MODERATE,YES,tolerated(0.13),benign(0.044),-1;NUP210L,missense_variant,p.N367K,ENST00000271854,NM_001159484.1,c.1101C>A,MODERATE,,tolerated(0.11),benign(0.044),-1	T	ENST00000368559	Transcript	missense_variant	missense_variant	1173/5889	1101/5667	367/1888	N/K	aaC/aaA		1		-1	NUP210L	HGNC	HGNC:29915	protein_coding	YES	CCDS41399.1	ENSP00000357547	Q5VU65		UPI000023724F	NM_207308.2	tolerated(0.13)	benign(0.044)	9/40																			MODERATE	1	SNV	5			1											PASS	CATCGGTTTCC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			False	Unknown	T	3	4	75	154127395	154127395	G	T	1	0	0	0	0	1	0	0	0	10826	1252	44	5		5	NUP210L	1	154127395	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		154127395	94829027	1	1087											
SELE	6401	BI	GRCh38	chr1	169729327	169729327	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggggaatggctgcAcctcacagagccattctgag	12	12	2	2	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.949T>A	p.Cys317Ser	p.C317S	ENST00000333360	7/14	29	17	12	32			SELE,missense_variant,p.C317S,ENST00000333360,NM_000450.2,c.949T>A,MODERATE,YES,deleterious(0),probably_damaging(0.993),-1;SELE,missense_variant,p.C317S,ENST00000367777,,c.949T>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;SELE,missense_variant,p.C317S,ENST00000367776,,c.949T>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;SELE,missense_variant,p.C255S,ENST00000367775,,c.763T>A,MODERATE,,deleterious(0),probably_damaging(0.985),-1;SELE,missense_variant,p.C317S,ENST00000367774,,c.949T>A,MODERATE,,deleterious(0),probably_damaging(0.971),-1;SELE,downstream_gene_variant,,ENST00000609271,,,MODIFIER,,,,-1;C1orf112,intron_variant,,ENST00000498289,,n.851+45395A>T,MODIFIER,,,,1;SELE,downstream_gene_variant,,ENST00000461085,,,MODIFIER,,,,-1	T	ENST00000333360	Transcript	missense_variant	missense_variant	1089/3857	949/1833	317/610	C/S	Tgc/Agc		1		-1	SELE	HGNC	HGNC:10718	protein_coding	YES	CCDS1283.1	ENSP00000331736	P16581		UPI000012E44A	NM_000450.2	deleterious(0)	probably_damaging(0.993)	7/14		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	MODERATE	1	SNV	1			1											PASS	GCTGCACCTCA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	3	4	75	169729327	169729327	A	T	1	0	0	0	0	1	0	0	0	14290	159	6	5		5	SELE	1	169729327	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08	15601932	169729327	79227095	2	1088											
SF3B1	23451	BI	GRCh38	chr2	197402759	197402759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagctgttgtgttaCggacatactcatccatgtta	8	9	2	0			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1874G>A	p.Arg625His	p.R625H	ENST00000335508	14/25	52	28	24	43			SF3B1,missense_variant,p.R625H,ENST00000335508,NM_012433.2,c.1874G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	T	ENST00000335508	Transcript	missense_variant	missense_variant	1966/6526	1874/3915	625/1304	R/H	cGt/cAt		1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	TGTTACGGACA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412		COSM255276	True	Unknown	T	3	4	75	197402759	197402759	C	T	1	0	0	0	0	1	0	0	0	14428	536	19	1		1	SF3B1	2	197402759	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		197402759	44790770	3	1089											
ABCA12	26154	BI	GRCh38	chr2	215000778	215000778	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagttccttccagtttGcaattcaatgattgctcttt	8	9	2	1	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.3106C>G	p.Gln1036Glu	p.Q1036E	ENST00000272895	22/53	128	72	56	134			ABCA12,missense_variant,p.Q1036E,ENST00000272895,NM_173076.2,c.3106C>G,MODERATE,YES,deleterious(0),benign(0.396),-1;ABCA12,missense_variant,p.Q718E,ENST00000389661,NM_015657.3,c.2152C>G,MODERATE,,deleterious(0),benign(0.161),-1;AC072062.3,upstream_gene_variant,,ENST00000617699,,,MODIFIER,,,,1	C	ENST00000272895	Transcript	missense_variant	missense_variant	3326/9100	3106/7788	1036/2595	Q/E	Caa/Gaa		1		-1	ABCA12	HGNC	HGNC:14637	protein_coding	YES	CCDS33372.1	ENSP00000272895	Q86UK0		UPI000019AB7A	NM_173076.2	deleterious(0)	benign(0.396)	22/53																			MODERATE	1	SNV	1			1											PASS	AGTTTGCAATT	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	C	3	2	75	215000778	215000778	G	C	1	0	0	0	0	1	0	0	0	34	1328	46	5		5	ABCA12	2	215000778	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08	17598019	215000778	27192751	4	1090											
TRAF3IP1	26146	BI	GRCh38	chr2	238328702	238328702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagctctctagtgacgatgCggtgcggagggttttagctg	15	8	1	1	rs764922323	byCluster;byFrequency	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.371C>T	p.Ala124Val	p.A124V	ENST00000373327	4/17	62	58	4	57			TRAF3IP1,missense_variant,p.A124V,ENST00000373327,NM_015650.3,c.371C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.829),1;TRAF3IP1,missense_variant,p.A124V,ENST00000391993,NM_001139490.1,c.371C>T,MODERATE,,deleterious(0),possibly_damaging(0.738),1;TRAF3IP1,3_prime_UTR_variant,,ENST00000409739,,c.*240C>T,MODIFIER,,,,1	T	ENST00000373327	Transcript	missense_variant	missense_variant	593/4279	371/2076	124/691	A/V	gCg/gTg	rs764922323	1		1	TRAF3IP1	HGNC	HGNC:17861	protein_coding	YES	CCDS33415.1	ENSP00000362424	Q8TDR0		UPI0000070E5D	NM_015650.3	deleterious(0)	possibly_damaging(0.829)	4/17		Pfam_domain:PF10243																	MODERATE	1	SNV	1			1	4.118e-05	4.12e-05	0	0	0.0001156	0	2.998e-05	0	0.0001212		PASS	CGATGCGGTGC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	3	4	75	238328702	238328702	C	T	1	0	0	0	0	1	0	0	0	16923	768	27	2		2	TRAF3IP1	2	238328702	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	23327924	238328702	3864827	5	1091											
CACNA1D	776	BI	GRCh38	chr3	53762037	53762037	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacgtttgactccctcAtcgtaatcggcagcattata	8	11	1	1	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.3826A>T	p.Ile1276Phe	p.I1276F	ENST00000350061	30/48	166	121	45	111			CACNA1D,missense_variant,p.I1296F,ENST00000288139,NM_000720.3,c.3886A>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.928),1;CACNA1D,missense_variant,p.I1276F,ENST00000350061,NM_001128840.2,c.3826A>T,MODERATE,,deleterious(0.01),probably_damaging(0.989),1;CACNA1D,missense_variant,p.I1276F,ENST00000422281,NM_001128839.2,c.3826A>T,MODERATE,,deleterious(0.01),probably_damaging(0.965),1;CACNA1D,intron_variant,,ENST00000481478,,c.2866-514A>T,MODIFIER,,,,1	T	ENST00000350061	Transcript	missense_variant	missense_variant	4337/7636	3826/6486	1276/2161	I/F	Atc/Ttc		1		1	CACNA1D	HGNC	HGNC:1391	protein_coding		CCDS46848.1	ENSP00000288133	Q01668		UPI000013DEF4	NM_001128840.2	deleterious(0.01)	probably_damaging(0.989)	30/48		Pfam_domain:PF00520;Pfam_domain:PF08016;Superfamily_domains:SSF81324																	MODERATE		SNV	1			1											PASS	CCCTCATCGTA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	3	4	75	53762037	53762037	A	T	1	0	0	0	0	1	0	0	0	2229	217	8	5		5	CACNA1D	3	53762037	Missense_Mutation	SNP	A	TCGA-WC-AA9E-01A-11D-A39W-08		53762037	144533522	6	1092											
ADGRL3	23284	BI	GRCh38	chr4	61733512	61733512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatggaataactatcacgtcGtgaaatattctttggatttt	7	5	2	1			TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1153G>A	p.Val385Met	p.V385M	ENST00000514591	7/25	35	25	10	19			ADGRL3,missense_variant,p.V385M,ENST00000512091,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(0.994),1;ADGRL3,missense_variant,p.V385M,ENST00000514591,NM_015236.4,c.1153G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.997),1;ADGRL3,missense_variant,p.V261M,ENST00000545650,,c.781G>A,MODERATE,,deleterious(0.01),probably_damaging(0.997),1;ADGRL3,missense_variant,p.V453M,ENST00000509896,,c.1357G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.997),1;ADGRL3,missense_variant,p.V453M,ENST00000511324,,c.1357G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.99),1;ADGRL3,missense_variant,p.V453M,ENST00000508693,,c.1357G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.99),1;ADGRL3,missense_variant,p.V453M,ENST00000507164,,c.1357G>A,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.995),1;ADGRL3,missense_variant,p.V453M,ENST00000506720,,c.1357G>A,MODERATE,,deleterious(0),probably_damaging(1),1;ADGRL3,missense_variant,p.V453M,ENST00000506746,,c.1357G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;ADGRL3,missense_variant,p.V453M,ENST00000507625,,c.1357G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;ADGRL3,missense_variant,p.V385M,ENST00000506700,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(0.99),1;ADGRL3,missense_variant,p.V385M,ENST00000504896,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(0.997),1;ADGRL3,missense_variant,p.V385M,ENST00000514157,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(0.995),1;ADGRL3,missense_variant,p.V385M,ENST00000508946,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(0.997),1;ADGRL3,missense_variant,p.V385M,ENST00000514996,,c.1153G>A,MODERATE,,deleterious(0.01),probably_damaging(1),1	A	ENST00000514591	Transcript	missense_variant	missense_variant	1482/6297	1153/4410	385/1469	V/M	Gtg/Atg		1		1	ADGRL3	HGNC	HGNC:20974	protein_coding	YES	CCDS54768.1	ENSP00000422533	Q9HAR2			NM_015236.4	deleterious(0.01)	probably_damaging(0.997)	7/25		Pfam_domain:PF02191;PROSITE_profiles:PS51132;SMART_domains:SM00284;Superfamily_domains:SSF63825																	MODERATE	1	SNV	5			1											PASS	ACGTCGTGAAA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412		COSM1430450;COSM1430451;COSM1430452;COSM4996453	True	Unknown	A	3	1	75	61733512	61733512	G	A	1	0	0	0	0	1	0	0	0	377	1145	40	1		1	ADGRL3	4	61733512	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		61733512	128481043	7	1093											
OCLN	100506658	BI	GRCh38	chr5	69514021	69514021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttctttgctgtgaaaactcGaagaaagatggacaggtatg	11	5	1	3	rs762992411		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.803G>A	p.Arg268Gln	p.R268Q	ENST00000355237	4/9	57	34	23	68			OCLN,missense_variant,p.R268Q,ENST00000355237,NM_002538.3,c.803G>A,MODERATE,YES,deleterious(0),probably_damaging(0.951),1;OCLN,missense_variant,p.R17Q,ENST00000538151,NM_001205255.1,c.50G>A,MODERATE,,deleterious(0),probably_damaging(0.951),1;OCLN,missense_variant,p.R268Q,ENST00000396442,NM_001205254.1,c.803G>A,MODERATE,,deleterious(0),probably_damaging(0.951),1	A	ENST00000355237	Transcript	missense_variant	missense_variant	1239/6438	803/1569	268/522	R/Q	cGa/cAa	rs762992411	1		1	OCLN	HGNC	HGNC:8104	protein_coding	YES	CCDS4006.1	ENSP00000347379	Q16625		UPI00000341F0	NM_002538.3	deleterious(0)	probably_damaging(0.951)	4/9		PIRSF_domain:PIRSF005993																	MODERATE	1	SNV	1			1											PASS	AACTCGAAGAA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412		COSM1218271	True	Unknown	A	3	1	75	69514021	69514021	G	A	1	0	0	0	0	1	0	0	0	10897	1058	37	2		2	OCLN	5	69514021	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		69514021	112024238	8	1094											
MGAT4B	11282	BI	GRCh38	chr5	179799505	179799505	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgccagctcttgctcaCcgcatccttctcggggttgc	10	17	3	0	rs112845536	byCluster	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1041+1G>A		p.X347_splice	ENST00000292591		43	25	18	62			MGAT4B,splice_donor_variant,p.X362_splice,ENST00000337755,NM_054013.3,c.1086+1G>A,HIGH,YES,,,-1;MGAT4B,splice_donor_variant,p.X347_splice,ENST00000292591,NM_014275.4,c.1041+1G>A,HIGH,,,,-1;MGAT4B,splice_donor_variant,p.X173_splice,ENST00000518778,,c.517+1G>A,HIGH,,,,-1;MGAT4B,splice_donor_variant,p.X44_splice,ENST00000520969,,c.131+1G>A,HIGH,,,,-1;MGAT4B,splice_donor_variant,p.X146_splice,ENST00000520875,,c.436+1G>A,HIGH,,,,-1;MGAT4B,splice_donor_variant,p.X159_splice,ENST00000518867,,c.475+1G>A,HIGH,,,,-1;MGAT4B,intron_variant,,ENST00000519836,,c.754-384G>A,MODIFIER,,,,-1;MGAT4B,intron_variant,,ENST00000518980,,c.339-255G>A,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000523108,,,MODIFIER,,,,-1;LTC4S,downstream_gene_variant,,ENST00000292596,NM_145867.1,,MODIFIER,YES,,,1;LTC4S,downstream_gene_variant,,ENST00000401985,,,MODIFIER,,,,1;MIR1229,upstream_gene_variant,,ENST00000408467,,,MODIFIER,YES,,,-1;MGAT4B,splice_donor_variant,,ENST00000522293,,n.71+1G>A,HIGH,,,,-1;MGAT4B,intron_variant,,ENST00000523382,,n.409-255G>A,MODIFIER,,,,-1;MAML1,downstream_gene_variant,,ENST00000503050,,,MODIFIER,,,,1;MGAT4B,downstream_gene_variant,,ENST00000521305,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000520019,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000520134,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000519965,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000519616,,,MODIFIER,,,,-1;MGAT4B,splice_donor_variant,,ENST00000518702,,n.527+1G>A,HIGH,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000518168,,,MODIFIER,,,,-1;LTC4S,downstream_gene_variant,,ENST00000465572,,,MODIFIER,,,,1;MGAT4B,downstream_gene_variant,,ENST00000520918,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000520822,,,MODIFIER,,,,-1;MGAT4B,downstream_gene_variant,,ENST00000521855,,,MODIFIER,,,,-1;MGAT4B,upstream_gene_variant,,ENST00000522451,,,MODIFIER,,,,-1;LTC4S,downstream_gene_variant,,ENST00000505170,,,MODIFIER,,,,1;LTC4S,downstream_gene_variant,,ENST00000466071,,,MODIFIER,,,,1;MGAT4B,downstream_gene_variant,,ENST00000523329,,,MODIFIER,,,,-1;LTC4S,downstream_gene_variant,,ENST00000509898,,,MODIFIER,,,,1;LTC4S,downstream_gene_variant,,ENST00000486713,,,MODIFIER,,,,1;LTC4S,downstream_gene_variant,,ENST00000510544,,,MODIFIER,,,,1	T	ENST00000292591	Transcript	splice_donor_variant	splice_donor_variant	-/2446	1041/1647	347/548			rs112845536	1		-1	MGAT4B	HGNC	HGNC:7048	protein_coding		CCDS4448.1	ENSP00000292591	Q9UQ53		UPI000006FDB8	NM_014275.4				9/14																		HIGH		SNV	1			1											PASS	GCTCACCGCAT	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412	NonExonic		True	Unknown	T	5	4	75	179799505	179799505	C	T	1	0	0	0	0	0	0	1	0	9506	521	18	3		3	MGAT4B	5	179799505	Splice_Site	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	110285484	179799505	1738754	9	1095											
CSMD3	114788	BI	GRCh38	chr8	112573632	112573632	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	taaaagcacctagtagatgaGtcgttttatcttttccatca	6	8	2	2	rs143652338	byCluster	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.3911C>G	p.Thr1304Ser	p.T1304S	ENST00000297405	24/71	160	138	22	91			CSMD3,missense_variant,p.T1304S,ENST00000297405,NM_198123.1,c.3911C>G,MODERATE,YES,tolerated(0.72),benign(0.016),-1;CSMD3,missense_variant,p.T1264S,ENST00000343508,NM_198124.1,c.3791C>G,MODERATE,,tolerated(0.77),benign(0.004),-1;CSMD3,missense_variant,p.T1200S,ENST00000455883,NM_052900.2,c.3599C>G,MODERATE,,tolerated(0.75),benign(0.402),-1;CSMD3,missense_variant,p.T644S,ENST00000339701,,c.1931C>G,MODERATE,,tolerated(1),benign(0.036),-1	C	ENST00000297405	Transcript	missense_variant	missense_variant	4156/13212	3911/11124	1304/3707	T/S	aCt/aGt	rs143652338	1		-1	CSMD3	HGNC	HGNC:19291	protein_coding	YES	CCDS6315.1	ENSP00000297405	Q7Z407		UPI00001E0584	NM_198123.1	tolerated(0.72)	benign(0.016)	24/71		Pfam_domain:PF00431;PROSITE_profiles:PS01180;SMART_domains:SM00042;Superfamily_domains:SSF49854								0	1e-04								MODERATE	1	SNV	1			1	8.237e-06	8.273e-06	0	0	0	0	1.504e-05	0	0		PASS	GATGAGTCGTT	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	C	3	2	75	112573632	112573632	G	C	1	0	0	0	0	1	0	0	0	3747	1029	36	5		5	CSMD3	8	112573632	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		112573632	32565004	10	1096											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000286548	5/7	109	63	46	122			GNAQ,missense_variant,p.Q209L,ENST00000286548,NM_002072.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	A	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/L	cAa/cTa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412		COSM28757	True	Unknown	A	3	1	75	77794572	77794572	T	A	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		77794572	60600145	11	1097											
ARHGEF17	9828	BI	GRCh38	chr11	73362538	73362538	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagccgcgacgctcgcGgagccggggccgcagccctg	18	15	0	0	rs748441561		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.4800G>A	p.=	p.A1600A	ENST00000263674	14/21	32	21	11	24			ARHGEF17,synonymous_variant,p.A1600A,ENST00000263674,NM_014786.3,c.4800G>A,LOW,YES,,,1;ARHGEF17,upstream_gene_variant,,ENST00000543530,,,MODIFIER,,,,1;ARHGEF17,upstream_gene_variant,,ENST00000536481,,,MODIFIER,,,,1	A	ENST00000263674	Transcript	synonymous_variant	synonymous_variant	5150/7853	4800/6192	1600/2063	A	gcG/gcA	rs748441561	1		1	ARHGEF17	HGNC	HGNC:21726	protein_coding	YES	CCDS8221.1	ENSP00000263674	Q96PE2		UPI000004980B	NM_014786.3			14/21		Low_complexity_(Seg):Seg																	LOW	1	SNV	1			1	8.331e-06	9.401e-06	0.0001308	0	0	0	0	0	0		PASS	CTCGCGGAGCC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	A	2	1	75	73362538	73362538	G	A	1	0	0	0	0	0	0	0	1	1030	1103	39	2		2	ARHGEF17	11	73362538	Silent	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		73362538	61724084	12	1098											
MCRS1	10445	BI	GRCh38	chr12	49565618	49565618	+	Frame_Shift_Del	DEL	C	C	-													tgcccgggtagaagattttgCcaggctgctctccaccagct					novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.199delG	p.Ala67GlnfsTer53	p.A67Qfs*53	ENST00000343810	4/15	158	96	62	174			MCRS1,frameshift_variant,p.A67Qfs*53,ENST00000550165,,c.199delG,HIGH,,,,-1;MCRS1,frameshift_variant,p.A67Qfs*53,ENST00000343810,NM_006337.4,c.199delG,HIGH,,,,-1;MCRS1,frameshift_variant,p.A80Qfs*53,ENST00000357123,NM_001012300.1,c.238delG,HIGH,YES,,,-1;MCRS1,frameshift_variant,p.A54Qfs*53,ENST00000553173,,c.160delG,HIGH,,,,-1;MCRS1,frameshift_variant,p.A67Qfs*53,ENST00000548596,,c.199delG,HIGH,,,,-1;MCRS1,frameshift_variant,p.A67Qfs*53,ENST00000548334,,c.199delG,HIGH,,,,-1;MCRS1,frameshift_variant,p.A71Qfs*53,ENST00000549528,,c.211delG,HIGH,,,,-1;MCRS1,5_prime_UTR_variant,,ENST00000546244,NM_001278341.1,c.-375delG,MODIFIER,,,,-1;PRPF40B,upstream_gene_variant,,ENST00000551063,,,MODIFIER,,,,1;PRPF40B,upstream_gene_variant,,ENST00000552301,,,MODIFIER,,,,1;PRPF40B,upstream_gene_variant,,ENST00000547764,,,MODIFIER,,,,1;MCRS1,upstream_gene_variant,,ENST00000547182,,,MODIFIER,,,,-1;MCRS1,frameshift_variant,p.W9Cfs*22,ENST00000548602,,c.27delG,HIGH,,,,-1;MCRS1,non_coding_transcript_exon_variant,,ENST00000551625,,n.919delG,MODIFIER,,,,-1;MCRS1,non_coding_transcript_exon_variant,,ENST00000552206,,n.896delG,MODIFIER,,,,-1;MCRS1,intron_variant,,ENST00000549000,,n.664+645delG,MODIFIER,,,,-1	-	ENST00000343810	Transcript	frameshift_variant	frameshift_variant	415/1928	199/1389	67/462	A/X	Gca/ca		1		-1	MCRS1	HGNC	HGNC:6960	protein_coding		CCDS8787.1	ENSP00000345358	Q96EZ8		UPI000012EDE9	NM_006337.4			4/15																			HIGH		deletion	1			1											PASS	ATTTTGCCAGGC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	-	7	5	75	49565618	49565618	C	-	1	0	1	0	1	0	0	0	0	9335	739	26	0		0	MCRS1	12	49565618	Frame_Shift_Del	DEL	C	TCGA-WC-AA9E-01A-11D-A39W-08		49565618	83709691	13	1099											
SAP30BP	29115	BI	GRCh38	chr17	75699801	75699801	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctccttttctgaaagagTtcggaacatgtcgcctgatg	10	10	1	3	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.326T>C	p.Val109Ala	p.V109A	ENST00000584667	5/11	171	162	9	138			SAP30BP,missense_variant,p.V109A,ENST00000584667,NM_013260.6,c.326T>C,MODERATE,YES,deleterious(0.03),possibly_damaging(0.497),1;SAP30BP,missense_variant,p.V93A,ENST00000355423,NM_001301839.1,c.278T>C,MODERATE,,deleterious(0.04),benign(0.311),1;SAP30BP,missense_variant,p.V126A,ENST00000583536,,c.375T>C,MODERATE,,deleterious(0.03),possibly_damaging(0.82),1;SAP30BP,missense_variant,p.V74A,ENST00000578909,,c.220T>C,MODERATE,,deleterious(0.04),possibly_damaging(0.84),1;SAP30BP,5_prime_UTR_variant,,ENST00000584240,,c.-8T>C,MODIFIER,,,,1;SAP30BP,5_prime_UTR_variant,,ENST00000583063,,c.-8T>C,MODIFIER,,,,1;SAP30BP,non_coding_transcript_exon_variant,,ENST00000579864,,n.333T>C,MODIFIER,,,,1;SAP30BP,missense_variant,p.V109A,ENST00000582022,,c.326T>C,MODERATE,,deleterious(0.03),possibly_damaging(0.667),1;SAP30BP,missense_variant,p.V109A,ENST00000580322,,c.325T>C,MODERATE,,deleterious(0.03),benign(0.275),1;SAP30BP,missense_variant,p.V93A,ENST00000293208,,c.278T>C,MODERATE,,deleterious(0.02),possibly_damaging(0.907),1;SAP30BP,missense_variant,p.V109A,ENST00000542343,,c.326T>C,MODERATE,,deleterious(0.03),possibly_damaging(0.775),1;SAP30BP,3_prime_UTR_variant,,ENST00000579877,,c.*102T>C,MODIFIER,,,,1;SAP30BP,3_prime_UTR_variant,,ENST00000583737,,c.*336T>C,MODIFIER,,,,1;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580601,,n.1932T>C,MODIFIER,,,,1;SAP30BP,non_coding_transcript_exon_variant,,ENST00000577292,,n.348T>C,MODIFIER,,,,1;SAP30BP,non_coding_transcript_exon_variant,,ENST00000580484,,n.329T>C,MODIFIER,,,,1;SAP30BP,upstream_gene_variant,,ENST00000584557,,,MODIFIER,,,,1;SAP30BP,upstream_gene_variant,,ENST00000583329,,,MODIFIER,,,,1;SAP30BP,upstream_gene_variant,,ENST00000581207,,,MODIFIER,,,,1;SAP30BP,upstream_gene_variant,,ENST00000578756,,,MODIFIER,,,,1;SAP30BP,upstream_gene_variant,,ENST00000581385,,,MODIFIER,,,,1	C	ENST00000584667	Transcript	missense_variant	missense_variant	583/2722	326/927	109/308	V/A	gTt/gCt		1		1	SAP30BP	HGNC	HGNC:30785	protein_coding	YES	CCDS11726.1	ENSP00000462116	Q9UHR5	A0A024R8R0		NM_013260.6	deleterious(0.03)	possibly_damaging(0.497)	5/11																			MODERATE	1	SNV	1			1											PASS	AAGAGTTCGGA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	C	3	2	75	75699801	75699801	T	C	1	0	0	0	0	1	0	0	0	14095	1725	60	4		4	SAP30BP	17	75699801	Missense_Mutation	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		75699801	7557640	14	1100											
WDR7	23335	BI	GRCh38	chr18	56935836	56935836	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgactcggcccgctcTgcgaggcatgccctctcgct	12	17	2	1	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.3762T>A	p.=	p.S1254S	ENST00000254442	23/28	101	45	56	101			WDR7,synonymous_variant,p.S1254S,ENST00000254442,NM_015285.2,c.3762T>A,LOW,YES,,,1;WDR7,synonymous_variant,p.S1221S,ENST00000357574,NM_052834.2,c.3663T>A,LOW,,,,1;WDR7,synonymous_variant,p.S579S,ENST00000615645,,c.1737T>A,LOW,,,,1;WDR7,intron_variant,,ENST00000589935,,c.1-91168T>A,MODIFIER,,,,1;WDR7,non_coding_transcript_exon_variant,,ENST00000586124,,n.352T>A,MODIFIER,,,,1;WDR7,upstream_gene_variant,,ENST00000591449,,,MODIFIER,,,,1	A	ENST00000254442	Transcript	synonymous_variant	synonymous_variant	3973/14083	3762/4473	1254/1490	S	tcT/tcA		1		1	WDR7	HGNC	HGNC:13490	protein_coding	YES	CCDS11962.1	ENSP00000254442	Q9Y4E6		UPI000013CE33	NM_015285.2			23/28		Superfamily_domains:SSF48371																	LOW	1	SNV	1			1											PASS	CGCTCTGCGAG	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	A	2	1	75	56935836	56935836	T	A	1	0	0	0	0	0	0	0	1	17876	1567	55	5		5	WDR7	18	56935836	Silent	SNP	T	TCGA-WC-AA9E-01A-11D-A39W-08		56935836	23437449	15	1101											
GRIN3B	116444	BI	GRCh38	chr19	1005225	1005225	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgtggcccctgcactGgtccacgtggctgggcgtct	13	13	1	0	rs112116006	by1000G;byCluster;byFrequency	TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1724G>T	p.Trp575Leu	p.W575L	ENST00000234389	3/9	26	18	8	51			GRIN3B,missense_variant,p.W575L,ENST00000234389,NM_138690.1,c.1724G>T,MODERATE,YES,deleterious(0),probably_damaging(0.992),1;TMEM259,downstream_gene_variant,,ENST00000356663,NM_001033026.1,,MODIFIER,YES,,,-1;TMEM259,downstream_gene_variant,,ENST00000333175,NM_033420.3,,MODIFIER,,,,-1;TMEM259,downstream_gene_variant,,ENST00000592590,,,MODIFIER,,,,-1;LLNLR-284B4.2,upstream_gene_variant,,ENST00000588380,,,MODIFIER,YES,,,-1;LLNLR-284B4.1,upstream_gene_variant,,ENST00000610701,,,MODIFIER,YES,,,1;GRIN3B,non_coding_transcript_exon_variant,,ENST00000588335,,n.474G>T,MODIFIER,,,,1;TMEM259,downstream_gene_variant,,ENST00000586704,,,MODIFIER,,,,-1;TMEM259,downstream_gene_variant,,ENST00000593068,,,MODIFIER,,,,-1;TMEM259,downstream_gene_variant,,ENST00000592618,,,MODIFIER,,,,-1;TMEM259,downstream_gene_variant,,ENST00000592052,,,MODIFIER,,,,-1	T	ENST00000234389	Transcript	missense_variant	missense_variant	1743/3281	1724/3132	575/1043	W/L	tGg/tTg	rs112116006	1		1	GRIN3B	HGNC	HGNC:16768	protein_coding	YES	CCDS32861.1	ENSP00000234389	O60391		UPI000004064B	NM_138690.1	deleterious(0)	probably_damaging(0.992)	3/9		Pfam_domain:PF00060;Pfam_domain:PF00497;Transmembrane_helices:Tmhmm;SMART_domains:SM00079;Superfamily_domains:SSF53850																	MODERATE	1	SNV	1			1	8.238e-06	8.323e-06	0	8.679e-05	0	0	0	0	0		panel_of_normals	GCACTGGTCCA	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412	gdc_pon		True	Unknown	T	3	4	75	1005225	1005225	G	T	1	0	0	0	0	1	0	0	0	6666	1357	47	5		5	GRIN3B	19	1005225	Missense_Mutation	SNP	G	TCGA-WC-AA9E-01A-11D-A39W-08		1005225	57612391	16	1102											
ZNF304	57343	BI	GRCh38	chr19	57356745	57356745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttcattcacttgcaCcacctaaaaatgcaccagaa	4	13	2	1	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.876C>T	p.=	p.H292H	ENST00000282286	3/3	60	45	15	77			ZNF304,synonymous_variant,p.H292H,ENST00000391705,NM_020657.2,c.876C>T,LOW,YES,,,1;ZNF304,synonymous_variant,p.H292H,ENST00000282286,,c.876C>T,LOW,,,,1;ZNF304,synonymous_variant,p.H339H,ENST00000443917,,c.1017C>T,LOW,,,,1;ZNF304,synonymous_variant,p.H250H,ENST00000598744,NM_001290319.1,c.750C>T,LOW,,,,1;CTC-444N24.13,upstream_gene_variant,,ENST00000597973,,,MODIFIER,YES,,,-1	T	ENST00000282286	Transcript	synonymous_variant	synonymous_variant	1049/4202	876/1980	292/659	H	caC/caT		1		1	ZNF304	HGNC	HGNC:13505	protein_coding		CCDS12950.1	ENSP00000282286	Q9HCX3		UPI000013CAB8				3/3		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667;Superfamily_domains:SSF57667																	LOW		SNV	2			1											PASS	TTGCACCACCT	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	2	4	75	57356745	57356745	C	T	1	0	0	0	0	0	0	0	1	18408	506	18	3		3	ZNF304	19	57356745	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08	56351520	57356745	1260871	17	1103											
RSPH14	27156	BI	GRCh38	chr22	23064059	23064059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggatgaactcctggaactCctcctcctccacctccacct	5	19	0	1	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.496G>A	p.Glu166Lys	p.E166K	ENST00000216036	5/7	44	26	18	38			RSPH14,missense_variant,p.E166K,ENST00000216036,NM_014433.2,c.496G>A,MODERATE,YES,tolerated(0.15),benign(0.025),-1	T	ENST00000216036	Transcript	missense_variant	missense_variant	693/1291	496/1047	166/348	E/K	Gag/Aag		1		-1	RSPH14	HGNC	HGNC:13437	protein_coding	YES	CCDS13803.1	ENSP00000216036	Q9UHP6		UPI000004A0CE	NM_014433.2	tolerated(0.15)	benign(0.025)	5/7		Low_complexity_(Seg):Seg;Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	GAACTCCTCCT	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	3	4	75	23064059	23064059	C	T	1	0	0	0	0	1	0	0	0	13962	864	30	3		3	RSPH14	22	23064059	Missense_Mutation	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		23064059	27754409	18	1104											
GAB3	139716	BI	GRCh38	chrX	154680243	154680243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggaactggctgttcggtgCtcctcctaggaaccaacatc	11	12	0	0	novel		TCGA-WC-AA9E-01A-11D-A39W-08	TCGA-WC-AA9E-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	afccff1a-7b6e-4def-ba95-5e8089668317	7ef509a4-bb46-49f5-9e51-48bf5c4ca903	c.1533G>A	p.=	p.E511E	ENST00000369575	9/10	71	4	67	50			GAB3,synonymous_variant,p.E511E,ENST00000369575,NM_080612.3,c.1533G>A,LOW,,,,-1;GAB3,synonymous_variant,p.E512E,ENST00000424127,NM_001081573.2,c.1536G>A,LOW,YES,,,-1;GAB3,intron_variant,,ENST00000369568,NM_001282283.1,c.1531-1949G>A,MODIFIER,,,,-1;GAB3,upstream_gene_variant,,ENST00000454973,,,MODIFIER,,,,-1;GAB3,non_coding_transcript_exon_variant,,ENST00000496390,,n.1083G>A,MODIFIER,,,,-1;GAB3,non_coding_transcript_exon_variant,,ENST00000475685,,n.182G>A,MODIFIER,,,,-1	T	ENST00000369575	Transcript	synonymous_variant	synonymous_variant	1565/4718	1533/1761	511/586	E	gaG/gaA		1		-1	GAB3	HGNC	HGNC:17515	protein_coding		CCDS14760.1	ENSP00000358588	Q8WWW8		UPI000006F752	NM_080612.3			9/10																			LOW		SNV	1			1											PASS	CGGTGCTCCTC	ae91a8ac-8c1a-4dc9-b0f3-1fb8c99d845c	c390636e-aac7-4a13-86b6-ffe18c5cedf8	83e5a4fa-c14c-418b-9f60-e6b49ee843ba	4480d290-5e8a-4289-8e3c-de087e0de412			True	Unknown	T	2	4	75	154680243	154680243	C	T	1	0	0	0	0	0	0	0	1	6021	811	28	3		3	GAB3	23	154680243	Silent	SNP	C	TCGA-WC-AA9E-01A-11D-A39W-08		154680243	1360652	19	1105											
FSHR	2492	BI	GRCh38	chr2	49154277	49154277	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatactcacagttcaatggcAttcctcgggaggtcagaagg	12	9	3	1	novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.141T>C	p.=	p.N47N	ENST00000406846	1/10	51	38	13	36			FSHR,synonymous_variant,p.N47N,ENST00000406846,NM_000145.3,c.141T>C,LOW,YES,,,-1;FSHR,synonymous_variant,p.N47N,ENST00000304421,NM_181446.2,c.141T>C,LOW,,,,-1;FSHR,synonymous_variant,p.N47N,ENST00000454032,,c.141T>C,LOW,,,,-1;FSHR,synonymous_variant,p.N47N,ENST00000419927,,c.141T>C,LOW,,,,-1	G	ENST00000406846	Transcript	synonymous_variant	synonymous_variant	261/2784	141/2088	47/695	N	aaT/aaC		1		-1	FSHR	HGNC	HGNC:3969	protein_coding	YES	CCDS1843.1	ENSP00000384708		A0A0A0MSC5	UPI000013E97A	NM_000145.3			1/10		Prints_domain:PR01143;SMART_domains:SM00013;Superfamily_domains:SSF52058																	LOW	1	SNV	1			1											PASS	ATGGCATTCCT	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	G	2	3	76	49154277	49154277	A	G	1	0	0	0	0	0	0	0	1	5947	214	8	4		4	FSHR	2	49154277	Silent	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		49154277	193039252	1	1106											
EIF1B	10289	BI	GRCh38	chr3	40311518	40311519	+	Frame_Shift_Ins	INS	-	-	T													acatcctgaatacggagaggINSttattcagcttcaaggtgac					novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.246dupT	p.Ile83TyrfsTer6	p.I83Yfs*6	ENST00000232905	3/4	52	42	10	62			EIF1B,frameshift_variant,p.I83Yfs*6,ENST00000232905,NM_005875.2,c.246dupT,HIGH,YES,,,1;EIF1B-AS1,upstream_gene_variant,,ENST00000629723,,,MODIFIER,YES,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000625390,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000631175,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000629217,,,MODIFIER,,,,-1;EIF1B-AS1,upstream_gene_variant,,ENST00000628298,,,MODIFIER,,,,-1;ENTPD3-AS1,downstream_gene_variant,,ENST00000439293,,,MODIFIER,,,,-1;EIF1B,non_coding_transcript_exon_variant,,ENST00000488260,,n.362dupT,MODIFIER,,,,1;EIF1B,non_coding_transcript_exon_variant,,ENST00000487151,,n.480dupT,MODIFIER,,,,1;EIF1B,downstream_gene_variant,,ENST00000462088,,,MODIFIER,,,,1;EIF1B-AS1,upstream_gene_variant,,ENST00000626073,,,MODIFIER,,,,-1	T	ENST00000232905	Transcript	frameshift_variant	frameshift_variant	502-503/1010	244-245/342	82/113	V/VX	gtt/gTtt		1		1	EIF1B	HGNC	HGNC:30792	protein_coding	YES	CCDS2690.1	ENSP00000232905	O60739	Q6FG85	UPI0000003EA1	NM_005875.2			3/4		Pfam_domain:PF01253;TIGRFAM_domain:TIGR01160;PROSITE_profiles:PS50296;Superfamily_domains:SSF55159;PIRSF_domain:PIRSF004499																	HIGH	1	insertion	1	2		1											PASS	GAGAGGTTATT	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	T	7	5	76	40311518	40311518	-	T	1	0	1	1	0	0	0	0	0	4830	1261	44	0		0	EIF1B	3	40311518	Frame_Shift_Ins	INS	-	TCGA-YZ-A980-01A-11D-A39W-08		40311518	157984041	2	1107											
BAP1	8314	BI	GRCh38	chr3	52405213	52405213	+	Frame_Shift_Del	DEL	G	G	-													cattgaggctgctgcctggaGgcttcaccactagcttgggt					novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.1013delC	p.Pro338LeufsTer24	p.P338Lfs*24	ENST00000460680	11/17	83	59	24	150			BAP1,frameshift_variant,p.P338Lfs*24,ENST00000460680,NM_004656.3,c.1013delC,HIGH,YES,,,-1;BAP1,frameshift_variant,p.P320Lfs*24,ENST00000296288,,c.959delC,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000469613,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,,n.441delC,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	1485/3937	1013/2190	338/729	P/X	cCt/ct		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			11/17		Low_complexity_(Seg):Seg																	HIGH	1	deletion	1			1											PASS	CCTGGAGGCTTC	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	-	7	5	76	52405213	52405213	G	-	1	0	1	0	1	0	0	0	0	1463	1000	35	0		0	BAP1	3	52405213	Frame_Shift_Del	DEL	G	TCGA-YZ-A980-01A-11D-A39W-08	12093695	52405213	145890346	3	1108											
EIF2B5	8893	BI	GRCh38	chr3	184138231	184138231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactggattgtcatatcagCatctgttctcctcaggtgag	9	9	5	1			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.750C>T	p.=	p.S250S	ENST00000273783	5/16	49	36	13	76			EIF2B5,synonymous_variant,p.S250S,ENST00000273783,NM_003907.2,c.750C>T,LOW,YES,,,1;EIF2B5,synonymous_variant,p.S250S,ENST00000444495,,c.750C>T,LOW,,,,1;EIF2B5,downstream_gene_variant,,ENST00000432569,,,MODIFIER,,,,1;RP11-778D9.13,upstream_gene_variant,,ENST00000609288,,,MODIFIER,YES,,,-1;RP11-778D9.12,upstream_gene_variant,,ENST00000608135,,,MODIFIER,YES,,,-1;RP11-778D9.12,upstream_gene_variant,,ENST00000608232,,,MODIFIER,,,,-1;EIF2B5,non_coding_transcript_exon_variant,,ENST00000479833,,n.66C>T,MODIFIER,,,,1;EIF2B5,downstream_gene_variant,,ENST00000498831,,,MODIFIER,,,,1;EIF2B5,upstream_gene_variant,,ENST00000492773,,,MODIFIER,,,,1;EIF2B5,downstream_gene_variant,,ENST00000471832,,,MODIFIER,,,,1;EIF2B5,non_coding_transcript_exon_variant,,ENST00000481054,,n.751C>T,MODIFIER,,,,1;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491144,,n.1190C>T,MODIFIER,,,,1;EIF2B5,non_coding_transcript_exon_variant,,ENST00000491008,,n.714C>T,MODIFIER,,,,1;EIF2B5,non_coding_transcript_exon_variant,,ENST00000468748,,n.203C>T,MODIFIER,,,,1;EIF2B5,intron_variant,,ENST00000432982,,c.245+1556C>T,MODIFIER,,,,1;EIF2B5,upstream_gene_variant,,ENST00000465218,,,MODIFIER,,,,1;EIF2B5,upstream_gene_variant,,ENST00000493740,,,MODIFIER,,,,1;EIF2B5,upstream_gene_variant,,ENST00000479250,,,MODIFIER,,,,1;EIF2B5,upstream_gene_variant,,ENST00000484154,,,MODIFIER,,,,1	T	ENST00000273783	Transcript	synonymous_variant	synonymous_variant	872/2655	750/2166	250/721	S	agC/agT		1		1	EIF2B5	HGNC	HGNC:3261	protein_coding	YES	CCDS3252.1	ENSP00000273783	Q13144		UPI000013D9CF	NM_003907.2			5/16		Superfamily_domains:SSF53448																	LOW	1	SNV	1			1											PASS	ATCAGCATCTG	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a		COSM3373107	True	Unknown	T	2	4	76	184138231	184138231	C	T	1	0	0	0	0	0	0	0	1	4840	709	25	3		3	EIF2B5	3	184138231	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08	131733018	184138231	14157328	4	1109											
TRIML1	339976	BI	GRCh38	chr4	188147171	188147171	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtcagcacgtcagagaGcctgtgtgtaaggttggtgt	15	6	2	1	rs376744139		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.1206G>A	p.=	p.E402E	ENST00000332517	6/6	115	86	29	115			TRIML1,synonymous_variant,p.E402E,ENST00000332517,NM_178556.3,c.1206G>A,LOW,YES,,,1;RP11-366H4.3,upstream_gene_variant,,ENST00000501322,,,MODIFIER,YES,,,-1;TRIML1,non_coding_transcript_exon_variant,,ENST00000507581,,n.666G>A,MODIFIER,,,,1;TRIML1,non_coding_transcript_exon_variant,,ENST00000512233,,n.556G>A,MODIFIER,,,,1	A	ENST00000332517	Transcript	synonymous_variant	synonymous_variant	1346/1797	1206/1407	402/468	E	gaG/gaA	rs376744139	1		1	TRIML1	HGNC	HGNC:26698	protein_coding	YES	CCDS3851.1	ENSP00000327738	Q8N9V2		UPI000006FC8A	NM_178556.3			6/6		Pfam_domain:PF00622;Prints_domain:PR01407;PROSITE_profiles:PS50188;SMART_domains:SM00449;Superfamily_domains:SSF49899								0	1e-04								LOW	1	SNV	1			1											PASS	AGAGAGCCTGT	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	A	2	1	76	188147171	188147171	G	A	1	0	0	0	0	0	0	0	1	17047	962	34	3		3	TRIML1	4	188147171	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		188147171	2067384	5	1110											
PPARD	5467	BI	GRCh38	chr6	35426028	35426028	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggatcaagaagaccgaaacCgagacctcgctgcaccctct	9	15	2	3	rs764302707	byFrequency	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.1275C>G	p.=	p.T425T	ENST00000311565	9/9	34	29	5	32			PPARD,synonymous_variant,p.T425T,ENST00000311565,NM_001171818.1,c.1275C>G,LOW,YES,,,1;PPARD,synonymous_variant,p.T425T,ENST00000360694,NM_006238.4,c.1275C>G,LOW,,,,1;PPARD,synonymous_variant,p.T386T,ENST00000448077,NM_001171819.1,c.1158C>G,LOW,,,,1;PPARD,synonymous_variant,p.T327T,ENST00000418635,NM_001171820.1,c.981C>G,LOW,,,,1;PPARD,downstream_gene_variant,,ENST00000337400,NM_177435.2,,MODIFIER,,,,1	G	ENST00000311565	Transcript	synonymous_variant	synonymous_variant	1624/3774	1275/1326	425/441	T	acC/acG	rs764302707	1		1	PPARD	HGNC	HGNC:9235	protein_coding	YES	CCDS4803.1	ENSP00000310928	Q03181	A0A024RCW6	UPI000004EF98	NM_001171818.1			9/9		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00104;Prints_domain:PR01288;Superfamily_domains:SSF48508																	LOW	1	SNV	5			1	2.471e-05	2.479e-05	0.0001926	0	0	0	1.502e-05	0	0		PASS	GAAACCGAGAC	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	G	2	3	76	35426028	35426028	C	G	1	0	0	0	0	0	0	0	1	12407	639	23	5		5	PPARD	6	35426028	Silent	SNP	C	TCGA-YZ-A980-01A-11D-A39W-08		35426028	135379951	6	1111											
CCAR2	57805	BI	GRCh38	chr8	22618449	22618450	+	Frame_Shift_Ins	INS	-	-	A													tacttgcaccggcgagacttINSagagaggatcctccttaccc					novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.2175dupA	p.Glu726ArgfsTer86	p.E726Rfs*86	ENST00000308511	17/21	64	47	17	100			CCAR2,frameshift_variant,p.E726Rfs*86,ENST00000308511,,c.2175dupA,HIGH,YES,,,1;CCAR2,frameshift_variant,p.E726Rfs*86,ENST00000389279,NM_021174.5,c.2175dupA,HIGH,,,,1;CCAR2,frameshift_variant,p.E401Rfs*86,ENST00000520861,,c.1200dupA,HIGH,,,,1;CCAR2,frameshift_variant,p.E418Rfs*86,ENST00000520738,,c.1250dupA,HIGH,,,,1;CCAR2,frameshift_variant,p.E189Rfs*84,ENST00000613179,,c.564dupA,HIGH,,,,1;BIN3,downstream_gene_variant,,ENST00000276416,NM_018688.4,,MODIFIER,YES,,,-1;BIN3,downstream_gene_variant,,ENST00000519513,,,MODIFIER,,,,-1;BIN3,downstream_gene_variant,,ENST00000399977,,,MODIFIER,,,,-1;CCAR2,downstream_gene_variant,,ENST00000522599,,,MODIFIER,,,,1;RP11-582J16.5,upstream_gene_variant,,ENST00000521025,,,MODIFIER,YES,,,-1;BIN3,downstream_gene_variant,,ENST00000519335,,,MODIFIER,,,,-1;BIN3,downstream_gene_variant,,ENST00000519863,,,MODIFIER,,,,-1;CCAR2,non_coding_transcript_exon_variant,,ENST00000520536,,n.294dupA,MODIFIER,,,,1;CCAR2,non_coding_transcript_exon_variant,,ENST00000521436,,n.359dupA,MODIFIER,,,,1;BIN3,downstream_gene_variant,,ENST00000520489,,,MODIFIER,,,,-1;CCAR2,downstream_gene_variant,,ENST00000521020,,,MODIFIER,,,,1	A	ENST00000308511	Transcript	frameshift_variant	frameshift_variant	2423-2424/4853	2174-2175/2772	725/923	L/LX	tta/ttAa		1		1	CCAR2	HGNC	HGNC:23360	protein_coding	YES	CCDS34863.1	ENSP00000310670	Q8N163		UPI0000070A46				17/21		Superfamily_domains:SSF47473																	HIGH	1	insertion	1	1		1											PASS	AGACTTAGAGA	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	A	7	5	76	22618449	22618449	-	A	1	0	1	1	0	0	0	0	0	2432	1764	61	0		0	CCAR2	8	22618449	Frame_Shift_Ins	INS	-	TCGA-YZ-A980-01A-11D-A39W-08		22618449	122520187	7	1112											
PSAP	5660	BI	GRCh38	chr10	71829046	71829046	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctggagagactcgcagaggTtgagagcagagcacacctcc	13	11	1	4	rs374177795	byCluster	TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.407A>G	p.Asn136Ser	p.N136S	ENST00000394936	5/14	94	82	12	89			PSAP,missense_variant,p.N136S,ENST00000394936,NM_001042466.1&NM_002778.2&NM_001042465.1,c.407A>G,MODERATE,YES,tolerated(0.69),benign(0.006),-1;PSAP,missense_variant,p.N136S,ENST00000394934,,c.407A>G,MODERATE,,tolerated(0.69),benign(0.004),-1;PSAP,intron_variant,,ENST00000610929,,c.270+2185A>G,MODIFIER,,,,-1	C	ENST00000394936	Transcript	missense_variant	missense_variant	555/2866	407/1575	136/524	N/S	aAc/aGc	rs374177795	1		-1	PSAP	HGNC	HGNC:9498	protein_coding	YES	CCDS7311.1	ENSP00000378394	P07602	A0A024QZQ2	UPI0000000DBF	NM_001042466.1;NM_002778.2;NM_001042465.1	tolerated(0.69)	benign(0.006)	5/14		Pfam_domain:PF03489;Prints_domain:PR01797;PROSITE_profiles:PS50015;SMART_domains:SM00741;Superfamily_domains:SSF47862;PIRSF_domain:PIRSF002431								2e-04	0								MODERATE	1	SNV	1			1	8.236e-06	8.298e-06	9.815e-05	0	0	0	0	0	0		PASS	AGAGGTTGAGA	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	C	3	2	76	71829046	71829046	T	C	1	0	0	0	0	1	0	0	0	12793	1725	60	4		4	PSAP	10	71829046	Missense_Mutation	SNP	T	TCGA-YZ-A980-01A-11D-A39W-08		71829046	61968376	8	1113											
KCNH5	27133	BI	GRCh38	chr14	62802473	62802473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctaccgccaaggcgcGcagacacccatcgctggcca	10	17	1	1			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.1678C>T	p.Arg560Cys	p.R560C	ENST00000322893	9/11	50	43	7	69			KCNH5,missense_variant,p.R560C,ENST00000322893,NM_139318.4,c.1678C>T,MODERATE,YES,deleterious(0),probably_damaging(0.945),-1;KCNH5,missense_variant,p.R560C,ENST00000420622,NM_172375.2,c.1678C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;KCNH5,missense_variant,p.R502C,ENST00000394968,,c.1504C>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1	A	ENST00000322893	Transcript	missense_variant	missense_variant	1947/11290	1678/2967	560/988	R/C	Cgc/Tgc		1		-1	KCNH5	HGNC	HGNC:6254	protein_coding	YES	CCDS9756.1	ENSP00000321427	Q8NCM2		UPI0000039E2D	NM_139318.4	deleterious(0)	probably_damaging(0.945)	9/11		PROSITE_profiles:PS50042;SMART_domains:SM00100;Superfamily_domains:SSF51206																	MODERATE	1	SNV	1			1											PASS	GGCGCGCAGAC	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a		COSM5054028;COSM5054029	True	Unknown	A	3	1	76	62802473	62802473	G	A	1	0	0	0	0	1	0	0	0	7951	1087	38	2		2	KCNH5	14	62802473	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		62802473	44241245	9	1114											
RNF167	26001	BI	GRCh38	chr17	4943253	4943253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctttcacagggattgtggGactgctggttttggccatgg	14	9	1	0	novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.545G>A	p.Gly182Glu	p.G182E	ENST00000262482	7/10	35	28	7	50			RNF167,missense_variant,p.G182E,ENST00000262482,NM_015528.1,c.545G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.706),1;RNF167,missense_variant,p.G182E,ENST00000575111,,c.545G>A,MODERATE,,deleterious(0),possibly_damaging(0.706),1;RNF167,missense_variant,p.G182E,ENST00000571816,,c.545G>A,MODERATE,,deleterious(0),possibly_damaging(0.706),1;RNF167,missense_variant,p.G182E,ENST00000572430,,c.545G>A,MODERATE,,deleterious(0),possibly_damaging(0.706),1;RNF167,missense_variant,p.G147E,ENST00000576229,,c.440G>A,MODERATE,,deleterious(0),possibly_damaging(0.706),1;RNF167,missense_variant,p.G71E,ENST00000572382,,c.212G>A,MODERATE,,deleterious(0),probably_damaging(0.986),1;RNF167,intron_variant,,ENST00000576965,,c.91+312G>A,MODIFIER,,,,1;SLC25A11,upstream_gene_variant,,ENST00000225665,NM_003562.4,,MODIFIER,YES,,,-1;PFN1,downstream_gene_variant,,ENST00000225655,NM_005022.3,,MODIFIER,YES,,,-1;PFN1,downstream_gene_variant,,ENST00000574872,,,MODIFIER,,,,-1;SLC25A11,upstream_gene_variant,,ENST00000544061,NM_001165418.1,,MODIFIER,,,,-1;SLC25A11,upstream_gene_variant,,ENST00000576951,NM_001165417.1,,MODIFIER,,,,-1;ENO3,upstream_gene_variant,,ENST00000520221,,,MODIFIER,,,,1;RNF167,downstream_gene_variant,,ENST00000576452,,,MODIFIER,,,,1;RNF167,downstream_gene_variant,,ENST00000573404,,,MODIFIER,,,,1;PFN1,downstream_gene_variant,,ENST00000572383,,,MODIFIER,,,,-1;ENO3,upstream_gene_variant,,ENST00000519266,,,MODIFIER,,,,1;RNF167,downstream_gene_variant,,ENST00000570328,,,MODIFIER,,,,1;RNF167,intron_variant,,ENST00000570492,,n.722+312G>A,MODIFIER,,,,1;RNF167,downstream_gene_variant,,ENST00000571365,,,MODIFIER,,,,1;RNF167,non_coding_transcript_exon_variant,,ENST00000575524,,n.186G>A,MODIFIER,,,,1;RNF167,intron_variant,,ENST00000575400,,c.389+312G>A,MODIFIER,,,,1;SLC25A11,upstream_gene_variant,,ENST00000574710,,,MODIFIER,,,,-1;RNF167,downstream_gene_variant,,ENST00000572554,,,MODIFIER,,,,1;RNF167,upstream_gene_variant,,ENST00000574548,,,MODIFIER,,,,1;SLC25A11,upstream_gene_variant,,ENST00000570543,,,MODIFIER,,,,-1	A	ENST00000262482	Transcript	missense_variant	missense_variant	1201/1915	545/1053	182/350	G/E	gGa/gAa		1		1	RNF167	HGNC	HGNC:24544	protein_coding	YES	CCDS11060.1	ENSP00000262482	Q9H6Y7		UPI000006DFEF	NM_015528.1	deleterious(0)	possibly_damaging(0.706)	7/10		Transmembrane_helices:Tmhmm																	MODERATE		SNV	2			1											PASS	TGTGGGACTGC	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	A	3	1	76	4943253	4943253	G	A	1	0	0	0	0	1	0	0	0	13635	1174	41	3		3	RNF167	17	4943253	Missense_Mutation	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		4943253	78314188	10	1115											
GNA11	2767	BI	GRCh38	chr19	3118944	3118944	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatgtggggggccAgcggtcggagcggaggaagt	23	5	0	0			TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.626A>T	p.Gln209Leu	p.Q209L	ENST00000078429	5/7	32	25	7	64			GNA11,missense_variant,p.Q209L,ENST00000078429,NM_002067.4,c.626A>T,MODERATE,YES,deleterious(0),probably_damaging(0.911),1;GNA11,missense_variant,p.Q58L,ENST00000587636,,c.172A>T,MODERATE,,deleterious(0),probably_damaging(0.958),1;GNA11,downstream_gene_variant,,ENST00000588401,,,MODIFIER,,,,1;AC005262.3,non_coding_transcript_exon_variant,,ENST00000587701,,n.173T>A,MODIFIER,YES,,,-1;AC005262.2,downstream_gene_variant,,ENST00000585980,,,MODIFIER,YES,,,-1;GNA11,non_coding_transcript_exon_variant,,ENST00000586180,,n.145A>T,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000590534,,n.1795A>T,MODIFIER,,,,1;GNA11,non_coding_transcript_exon_variant,,ENST00000591301,,n.132A>T,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	868/4147	626/1080	209/359	Q/L	cAg/cTg		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(0.911)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	GGGCCAGCGGT	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a		COSM52969	True	Unknown	T	3	4	76	3118944	3118944	A	T	1	0	0	0	0	1	0	0	0	6379	188	7	5		5	GNA11	19	3118944	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		3118944	55498672	11	1116											
STK4	6789	BI	GRCh38	chr20	45025112	45025112	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagattggaaaataccacaGgatggagactacgagtttgt	11	6	1	2	novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.1287G>A	p.=	p.Q429Q	ENST00000372806	10/11	52	45	7	62			STK4,synonymous_variant,p.Q429Q,ENST00000372806,NM_006282.2,c.1287G>A,LOW,YES,,,1;STK4,synonymous_variant,p.Q374Q,ENST00000499879,,c.1122G>A,LOW,,,,1;STK4,synonymous_variant,p.Q429Q,ENST00000372801,,c.1287G>A,LOW,,,,1	A	ENST00000372806	Transcript	synonymous_variant	synonymous_variant	1382/6342	1287/1464	429/487	Q	caG/caA		1		1	STK4	HGNC	HGNC:11408	protein_coding	YES	CCDS13341.1	ENSP00000361892	Q13043		UPI00001360FF	NM_006282.2			10/11		Superfamily_domains:SSF56112																	LOW	1	SNV	1			1											PASS	CCACAGGATGG	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	A	2	1	76	45025112	45025112	G	A	1	0	0	0	0	0	0	0	1	15683	991	35	3		3	STK4	20	45025112	Silent	SNP	G	TCGA-YZ-A980-01A-11D-A39W-08		45025112	19419055	12	1117											
DRG1	4733	BI	GRCh38	chr22	31420324	31420324	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggacataagaagataAttgaaaatgagctggaaggc	12	4	0	4	novel		TCGA-YZ-A980-01A-11D-A39W-08	TCGA-YZ-A980-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	2acd7e08-0c2b-46ce-b3bb-9a2087f87ec5	40222640-92e6-45b0-9b35-b35133e45faf	c.481A>G	p.Ile161Val	p.I161V	ENST00000331457	5/9	61	46	15	90			DRG1,missense_variant,p.I161V,ENST00000331457,NM_004147.3,c.481A>G,MODERATE,YES,deleterious(0),possibly_damaging(0.644),1;DRG1,non_coding_transcript_exon_variant,,ENST00000433341,,n.548A>G,MODIFIER,,,,1;DRG1,3_prime_UTR_variant,,ENST00000416465,,c.*113A>G,MODIFIER,,,,1	G	ENST00000331457	Transcript	missense_variant	missense_variant	642/1746	481/1104	161/367	I/V	Att/Gtt		1		1	DRG1	HGNC	HGNC:3029	protein_coding	YES	CCDS13897.1	ENSP00000329715	Q9Y295		UPI0000129879	NM_004147.3	deleterious(0)	possibly_damaging(0.644)	5/9		Pfam_domain:PF01926;TIGRFAM_domain:TIGR00231;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	AGATAATTGAA	a54344df-c543-4642-8f4c-95693abe0b38	e9dca749-85e2-4f8e-ae69-6181534af6ac	00e44a91-379e-4a9c-aab1-73cdf626c7b7	e00ce846-9a0e-48b5-be9f-84d443a0f78a			True	Unknown	G	3	3	76	31420324	31420324	A	G	1	0	0	0	0	1	0	0	0	4580	101	4	4		4	DRG1	22	31420324	Missense_Mutation	SNP	A	TCGA-YZ-A980-01A-11D-A39W-08		31420324	19398144	13	1118											
EIF4G3	8672	BI	GRCh38	chr1	20851435	20851435	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttggccgagctgttgcagAtggaaggggcttgtcattct	14	7	2	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.3427T>G	p.Ser1143Ala	p.S1143A	ENST00000264211	22/31	46	43	3	64			EIF4G3,missense_variant,p.S1179A,ENST00000400422,NM_001198801.1,c.3535T>G,MODERATE,YES,tolerated(0.39),benign(0.001),-1;EIF4G3,missense_variant,p.S1149A,ENST00000602326,NM_001198802.1,c.3445T>G,MODERATE,,tolerated(0.43),benign(0.001),-1;EIF4G3,missense_variant,p.S1143A,ENST00000264211,NM_003760.4,c.3427T>G,MODERATE,,tolerated(0.44),benign(0.001),-1;EIF4G3,missense_variant,p.S863A,ENST00000374935,,c.2587T>G,MODERATE,,tolerated(0.53),benign(0.002),-1;EIF4G3,upstream_gene_variant,,ENST00000435383,,,MODIFIER,,,,-1	C	ENST00000264211	Transcript	missense_variant	missense_variant	3622/5802	3427/4758	1143/1585	S/A	Tct/Gct		1		-1	EIF4G3	HGNC	HGNC:3298	protein_coding		CCDS214.1	ENSP00000264211	O43432			NM_003760.4	tolerated(0.44)	benign(0.001)	22/31																			MODERATE		SNV	1			1											PASS	TGCAGATGGAA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			False	Unknown	C	3	2	77	20851435	20851435	A	C	1	0	0	0	0	1	0	0	0	4871	333	12	5		5	EIF4G3	1	20851435	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		20851435	228104987	1	1119											
SPTA1	6708	BI	GRCh38	chr1	158642941	158642941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagtctccaagctttgtcCgctcatcaatcagttgtgct	7	12	4	0	rs544007770		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.4478G>A	p.Arg1493Gln	p.R1493Q	ENST00000368147	32/52	74	33	41	87			SPTA1,missense_variant,p.R1493Q,ENST00000368147,NM_003126.2,c.4478G>A,MODERATE,YES,tolerated(0.05),benign(0.003),-1;SPTA1,missense_variant,p.R1493Q,ENST00000614909,,c.4478G>A,MODERATE,,tolerated(0.05),benign(0.002),-1;SPTA1,upstream_gene_variant,,ENST00000465741,,,MODIFIER,,,,-1	T	ENST00000368147	Transcript	missense_variant	missense_variant	4659/7999	4478/7260	1493/2419	R/Q	cGg/cAg	rs544007770	1		-1	SPTA1	HGNC	HGNC:11272	protein_coding	YES	CCDS41423.1	ENSP00000357129	P02549			NM_003126.2	tolerated(0.05)	benign(0.003)	32/52		Pfam_domain:PF00435;SMART_domains:SM00150;Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1											PASS	TTGTCCGCTCA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8		COSM5211683	True	Unknown	T	3	4	77	158642941	158642941	C	T	1	0	0	0	0	1	0	0	0	15472	652	23	2		2	SPTA1	1	158642941	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	137791506	158642941	90313481	2	1120											
PAPPA2	60676	BI	GRCh38	chr1	176594580	176594580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgggccctggggatcCgctcagggaaggacaaggga	18	9	1	0	rs368485332	by1000G;byCluster	TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.976C>T	p.Arg326Cys	p.R326C	ENST00000367662	3/23	71	50	21	64			PAPPA2,missense_variant,p.R326C,ENST00000367662,NM_020318.2,c.976C>T,MODERATE,YES,deleterious(0),probably_damaging(0.94),1;PAPPA2,missense_variant,p.R326C,ENST00000367661,NM_021936.2,c.976C>T,MODERATE,,deleterious(0),probably_damaging(0.97),1	T	ENST00000367662	Transcript	missense_variant	missense_variant	2140/9691	976/5376	326/1791	R/C	Cgc/Tgc	rs368485332	1		1	PAPPA2	HGNC	HGNC:14615	protein_coding	YES	CCDS41438.1	ENSP00000356634	Q9BXP8		UPI000004A835	NM_020318.2	deleterious(0)	probably_damaging(0.94)	3/23		SMART_domains:SM00560;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1	9.098e-05	9.152e-05	0	0.0006083	0	0.0001526	4.51e-05	0	0		PASS	GGATCCGCTCA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8	common_in_exac	COSM322465;COSM322466	True	Unknown	T	3	4	77	176594580	176594580	C	T	1	0	0	0	0	1	0	0	0	11513	652	23	2		2	PAPPA2	1	176594580	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	17951639	176594580	72361842	3	1121											
SCN9A	6335	BI	GRCh38	chr2	166199564	166199564	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaggttgtaatttggAacaggcaaatcatactgttg	11	6	1	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.5075T>C	p.Phe1692Ser	p.F1692S	ENST00000303354	27/27	251	132	119	198			SCN9A,missense_variant,p.F1692S,ENST00000303354,,c.5075T>C,MODERATE,,deleterious(0),probably_damaging(1),-1;SCN9A,missense_variant,p.F1681S,ENST00000409672,NM_002977.3,c.5042T>C,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SCN9A,missense_variant,p.F1692S,ENST00000409435,,c.5075T>C,MODERATE,,deleterious(0),probably_damaging(1),-1;AC010127.3,intron_variant,,ENST00000447809,,n.432-75A>G,MODIFIER,YES,,,1	G	ENST00000303354	Transcript	missense_variant	missense_variant	5416/9786	5075/5967	1692/1988	F/S	tTc/tCc		1		-1	SCN9A	HGNC	HGNC:10597	protein_coding			ENSP00000304748	Q15858		UPI0001881757		deleterious(0)	probably_damaging(1)	27/27		Pfam_domain:PF00520;Pfam_domain:PF08016;Superfamily_domains:SSF81324																	MODERATE		SNV	5			1											PASS	TTTGGAACAGG	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	G	3	3	77	166199564	166199564	A	G	1	0	0	0	0	1	0	0	0	14194	246	9	4		4	SCN9A	2	166199564	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		166199564	75993965	4	1122											
SPEG	10290	BI	GRCh38	chr2	219488251	219488251	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctgctggagggggaggCagccaccctgctctgcctgc	17	13	1	0	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.7799C>G	p.Ala2600Gly	p.A2600G	ENST00000312358	32/41	63	43	20	97			SPEG,missense_variant,p.A2600G,ENST00000312358,NM_005876.4,c.7799C>G,MODERATE,YES,,probably_damaging(0.998),1;SPEG,upstream_gene_variant,,ENST00000412982,,,MODIFIER,,,,1;AC053503.11,intron_variant,,ENST00000429882,,n.183-5842G>C,MODIFIER,YES,,,-1;SPEG,non_coding_transcript_exon_variant,,ENST00000485813,,n.7042C>G,MODIFIER,,,,1	G	ENST00000312358	Transcript	missense_variant	missense_variant	7931/10782	7799/9804	2600/3267	A/G	gCa/gGa		1		1	SPEG	HGNC	HGNC:16901	protein_coding	YES	CCDS42824.1	ENSP00000311684	Q15772		UPI000066D99E	NM_005876.4		probably_damaging(0.998)	32/41		Low_complexity_(Seg):Seg;Pfam_domain:PF07679;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE		SNV	5			1											PASS	GGAGGCAGCCA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	G	3	3	77	219488251	219488251	C	G	1	0	0	0	0	1	0	0	0	15387	710	25	5		5	SPEG	2	219488251	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	53288687	219488251	22705278	5	1123											
IGSF10	285313	BI	GRCh38	chr3	151448099	151448099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatattcttaatgtgcCattgtttagaactttcttgt	6	6	2	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1882G>A	p.Gly628Ser	p.G628S	ENST00000282466	4/6	85	65	20	116			IGSF10,missense_variant,p.G628S,ENST00000282466,NM_178822.4,c.1882G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.964),-1;IGSF10,upstream_gene_variant,,ENST00000489791,,,MODIFIER,,,,-1	T	ENST00000282466	Transcript	missense_variant	missense_variant	1882/11067	1882/7872	628/2623	G/S	Ggc/Agc		1		-1	IGSF10	HGNC	HGNC:26384	protein_coding	YES	CCDS3160.1	ENSP00000282466	Q6WRI0		UPI00001D629A	NM_178822.4	deleterious(0.02)	probably_damaging(0.964)	4/6		Pfam_domain:PF07679;Pfam_domain:PF00047;Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;SMART_domains:SM00406;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	TGTGCCATTGT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	T	3	4	77	151448099	151448099	C	T	1	0	0	0	0	1	0	0	0	7504	594	21	3		3	IGSF10	3	151448099	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		151448099	46847460	6	1124											
PPM1L	151742	BI	GRCh38	chr3	161068868	161068868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatcctggccatgtctcGgtccctgggggattatccgc	14	12	1	0			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.794G>A	p.Arg265Gln	p.R265Q	ENST00000498165	4/4	73	69	4	50			PPM1L,missense_variant,p.R265Q,ENST00000498165,NM_139245.2,c.794G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;PPM1L,missense_variant,p.R86Q,ENST00000464260,,c.257G>A,MODERATE,,deleterious(0),probably_damaging(1),1;PPM1L,missense_variant,p.R138Q,ENST00000295839,,c.413G>A,MODERATE,,deleterious(0),probably_damaging(1),1;PPM1L,non_coding_transcript_exon_variant,,ENST00000480117,,n.814G>A,MODIFIER,,,,1	A	ENST00000498165	Transcript	missense_variant	missense_variant	895/10934	794/1083	265/360	R/Q	cGg/cAg		1		1	PPM1L	HGNC	HGNC:16381	protein_coding	YES	CCDS33886.1	ENSP00000417659	Q5SGD2		UPI000046F91B	NM_139245.2	deleterious(0)	probably_damaging(1)	4/4		Pfam_domain:PF00481;SMART_domains:SM00332;SMART_domains:SM00331;Superfamily_domains:SSF81606																	MODERATE	1	SNV	1			1											PASS	GTCTCGGTCCC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8		COSM3915240;COSM3915241	True	Unknown	A	3	1	77	161068868	161068868	G	A	1	0	0	0	0	1	0	0	0	12454	1116	39	2		2	PPM1L	3	161068868	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	9620769	161068868	37226691	7	1125											
ANK2	287	BI	GRCh38	chr4	113353779	113353779	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaagaggaaggtttacaaGctagtgcagagaaagctgaa	12	4	0	3	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.5161G>A	p.Ala1721Thr	p.A1721T	ENST00000357077	38/46	189	74	115	204			ANK2,missense_variant,p.A1721T,ENST00000357077,NM_001148.4,c.5161G>A,MODERATE,YES,,benign(0.005),1;ANK2,missense_variant,p.A1688T,ENST00000264366,,c.5062G>A,MODERATE,,,benign(0.002),1;ANK2,intron_variant,,ENST00000506722,NM_001127493.1,c.4399+3530G>A,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000394537,NM_020977.3,c.4426+3530G>A,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000514960,,c.1430+3530G>A,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000509550,,c.1954+3530G>A,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000510275,,c.382+3530G>A,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000504415,,c.383+3530G>A,MODIFIER,,,,1;ANK2,upstream_gene_variant,,ENST00000612754,,,MODIFIER,,,,1;ANK2,upstream_gene_variant,,ENST00000505342,,,MODIFIER,,,,1;ANK2,downstream_gene_variant,,ENST00000504454,,,MODIFIER,,,,1;ANK2,downstream_gene_variant,,ENST00000503423,,,MODIFIER,,,,1;ANK2,intron_variant,,ENST00000508007,,n.535+3530G>A,MODIFIER,,,,1;ANK2,downstream_gene_variant,,ENST00000512298,,,MODIFIER,,,,1	A	ENST00000357077	Transcript	missense_variant	missense_variant	5214/14196	5161/11874	1721/3957	A/T	Gct/Act		1		1	ANK2	HGNC	HGNC:493	protein_coding	YES	CCDS3702.1	ENSP00000349588	Q01484		UPI0000441EF3	NM_001148.4		benign(0.005)	38/46		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1											PASS	TACAAGCTAGT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	113353779	113353779	G	A	1	0	0	0	0	1	0	0	0	721	971	34	3		3	ANK2	4	113353779	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		113353779	76860776	8	1126											
PGBD1	84547	BI	GRCh38	chr6	28301119	28301119	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgaacccagtagagcTttttgaattattttttgatg	8	4	0	4	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1265T>G	p.Leu422Arg	p.L422R	ENST00000259883	7/7	186	74	112	108			PGBD1,missense_variant,p.L422R,ENST00000259883,NM_001184743.1&NM_032507.3,c.1265T>G,MODERATE,YES,deleterious(0),probably_damaging(0.969),1	G	ENST00000259883	Transcript	missense_variant	missense_variant	1670/3100	1265/2430	422/809	L/R	cTt/cGt		1		1	PGBD1	HGNC	HGNC:19398	protein_coding	YES	CCDS4648.1	ENSP00000259883	Q96JS3		UPI000006ED63	NM_001184743.1;NM_032507.3	deleterious(0)	probably_damaging(0.969)	7/7		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	AGAGCTTTTTG	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	G	3	3	77	28301119	28301119	T	G	1	0	0	0	0	1	0	0	0	11870	1609	56	5		5	PGBD1	6	28301119	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		28301119	142504860	9	1127											
ARMT1	79624	BI	GRCh38	chr6	151469013	151469013	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagctgaaattcaggttgGtctgcagcctgggcaagggg	15	7	2	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1229G>A	p.Gly410Asp	p.G410D	ENST00000367294	5/5	60	37	23	62			ARMT1,missense_variant,p.G410D,ENST00000367294,NM_024573.2,c.1229G>A,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;ARMT1,missense_variant,p.G291D,ENST00000545879,NM_001286562.1,c.872G>A,MODERATE,,deleterious(0),probably_damaging(0.994),1;ARMT1,downstream_gene_variant,,ENST00000483931,,,MODIFIER,,,,1;ARMT1,downstream_gene_variant,,ENST00000494826,,,MODIFIER,,,,1	A	ENST00000367294	Transcript	missense_variant	missense_variant	1488/2576	1229/1326	410/441	G/D	gGt/gAt		1		1	ARMT1	HGNC	HGNC:17872	protein_coding	YES	CCDS5233.1	ENSP00000356263	Q9H993		UPI00000708C7	NM_024573.2	deleterious(0)	probably_damaging(0.994)	5/5		Pfam_domain:PF01937;Superfamily_domains:SSF111321																	MODERATE	1	SNV	1			1											PASS	GGTTGGTCTGC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	151469013	151469013	G	A	1	0	0	0	0	1	0	0	0	1106	1261	44	3		3	ARMT1	6	151469013	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	123167894	151469013	19336966	10	1128											
MUC17	140453	BI	GRCh38	chr7	101036071	101036071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacttattctcaagccaGttcatctcctacaactgctg	5	14	3	0	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.4655G>A	p.Ser1552Asn	p.S1552N	ENST00000306151	3/13	137	126	11	354			MUC17,missense_variant,p.S1552N,ENST00000306151,NM_001040105.1,c.4655G>A,MODERATE,YES,,unknown(0),1;MUC17,missense_variant,p.S1552N,ENST00000379439,,c.4655G>A,MODERATE,,,unknown(0),1	A	ENST00000306151	Transcript	missense_variant	missense_variant	4719/14247	4655/13482	1552/4493	S/N	aGt/aAt		1		1	MUC17	HGNC	HGNC:16800	protein_coding	YES	CCDS34711.1	ENSP00000302716	Q685J3		UPI0000D5BB56	NM_001040105.1		unknown(0)	3/13		PROSITE_profiles:PS50324;PROSITE_profiles:PS50325																	MODERATE	1	SNV	1			1											PASS	AGCCAGTTCAT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	101036071	101036071	G	A	1	0	0	0	0	1	0	0	0	9973	1029	36	3		3	MUC17	7	101036071	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		101036071	58309902	11	1129											
TP53INP1	94241	BI	GRCh38	chr8	94939892	94939892	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggctatgtaattcatcagtCccacgggtggcctcactgag	12	11	3	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.441G>A	p.=	p.G147G	ENST00000342697	3/4	88	65	23	75			TP53INP1,synonymous_variant,p.G147G,ENST00000342697,NM_033285.3,c.441G>A,LOW,YES,,,-1;TP53INP1,synonymous_variant,p.G147G,ENST00000448464,NM_001135733.1,c.441G>A,LOW,,,,-1;NDUFAF6,intron_variant,,ENST00000396113,,c.-935-5591C>T,MODIFIER,,,,1;NDUFAF6,intron_variant,,ENST00000523378,,c.-387-18103C>T,MODIFIER,,,,1;NDUFAF6,intron_variant,,ENST00000519136,,c.-440-18103C>T,MODIFIER,,,,1	T	ENST00000342697	Transcript	synonymous_variant	synonymous_variant	849/5638	441/723	147/240	G	ggG/ggA		1		-1	TP53INP1	HGNC	HGNC:18022	protein_coding	YES	CCDS6265.1	ENSP00000344215	Q96A56	A0A024R9C8	UPI00000725F8	NM_033285.3			3/4																			LOW	1	SNV	1			1											PASS	TCAGTCCCACG	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	T	2	4	77	94939892	94939892	C	T	1	0	0	0	0	0	0	0	1	16866	842	30	3		3	TP53INP1	8	94939892	Silent	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		94939892	50198744	12	1130											
NFX1	4799	BI	GRCh38	chr9	33301355	33301355	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtgtggagttgtcagAgctgttaccatgtgtttcat	11	9	2	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1126A>T	p.Ser376Cys	p.S376C	ENST00000379540	3/24	115	86	29	124			NFX1,missense_variant,p.S376C,ENST00000379540,NM_002504.4,c.1126A>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.765),1;NFX1,missense_variant,p.S376C,ENST00000379521,NM_147133.2,c.1126A>T,MODERATE,,deleterious(0),possibly_damaging(0.882),1;NFX1,missense_variant,p.S376C,ENST00000318524,NM_147134.2,c.1126A>T,MODERATE,,deleterious(0),probably_damaging(0.937),1	T	ENST00000379540	Transcript	missense_variant	missense_variant	1188/4604	1126/3363	376/1120	S/C	Agc/Tgc		1		1	NFX1	HGNC	HGNC:7803	protein_coding	YES	CCDS6538.1	ENSP00000368856	Q12986		UPI0000072140	NM_002504.4	deleterious(0.01)	possibly_damaging(0.765)	3/24		SMART_domains:SM00184;PROSITE_profiles:PS50016;PROSITE_profiles:PS50089;Superfamily_domains:SSF57850																	MODERATE	1	SNV	1			1											PASS	GTCAGAGCTGT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	T	3	4	77	33301355	33301355	A	T	1	0	0	0	0	1	0	0	0	10423	304	11	5		5	NFX1	9	33301355	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08		33301355	105093362	13	1131											
ASB6	140459	BI	GRCh38	chr9	129637917	129637917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagagccggatggccacaCggcacaggtgcttgaggggc	18	10	0	2	rs371398374	byCluster	TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1139G>A	p.Arg380His	p.R380H	ENST00000277458	6/6	28	12	16	65			ASB6,missense_variant,p.R351H,ENST00000450050,NM_001202403.1,c.1052G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;ASB6,missense_variant,p.R380H,ENST00000277458,NM_017873.3,c.1139G>A,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.999),-1;ASB6,3_prime_UTR_variant,,ENST00000277459,NM_177999.2,c.*436G>A,MODIFIER,,,,-1;NTMT1,downstream_gene_variant,,ENST00000611055,NM_014064.3&NM_001286798.1,,MODIFIER,YES,,,1;NTMT1,downstream_gene_variant,,ENST00000613644,NM_001286797.1,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000372486,NM_001286796.1,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000617943,NM_001286802.1&NM_001286803.1,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000372483,,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000459968,,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000482347,,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000372480,NM_001286799.1,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000372481,NM_001286801.1&NM_001286800.1,,MODIFIER,,,,1;RP11-483H20.4,upstream_gene_variant,,ENST00000455074,,,MODIFIER,YES,,,1;NTMT1,downstream_gene_variant,,ENST00000486391,,,MODIFIER,,,,1;NTMT1,downstream_gene_variant,,ENST00000481189,,,MODIFIER,,,,1	T	ENST00000277458	Transcript	missense_variant	missense_variant	1305/2330	1139/1266	380/421	R/H	cGt/cAt	rs371398374	1		-1	ASB6	HGNC	HGNC:17181	protein_coding	YES	CCDS6924.1	ENSP00000277458	Q9NWX5		UPI000004A09F	NM_017873.3	deleterious_low_confidence(0)	probably_damaging(0.999)	6/6		Pfam_domain:PF07525;PROSITE_profiles:PS50225;SMART_domains:SM00253;SMART_domains:SM00969								0	1e-04								MODERATE	1	SNV	1			1	8.241e-06	8.95e-06	0	0	0	0	1.561e-05	0	0		PASS	CCACACGGCAC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	T	3	4	77	129637917	129637917	C	T	1	0	0	0	0	1	0	0	0	1169	536	19	1		1	ASB6	9	129637917	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	96336562	129637917	8756800	14	1132											
CACNA1C	775	BI	GRCh38	chr12	2581774	2581774	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcacattcgataacttccccCagtccctcctcactgtgttt	5	16	1	0	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.2080C>G	p.Gln694Glu	p.Q694E	ENST00000347598	14/49	37	34	3	43			CACNA1C,missense_variant,p.Q694E,ENST00000399655,NM_000719.6,c.2080C>G,MODERATE,,deleterious(0.02),possibly_damaging(0.508),1;CACNA1C,missense_variant,p.Q535E,ENST00000615303,,c.1603C>G,MODERATE,,deleterious(0.02),benign(0.016),1;CACNA1C,missense_variant,p.Q535E,ENST00000620878,,c.1603C>G,MODERATE,,deleterious(0.02),probably_damaging(0.95),1;CACNA1C,missense_variant,p.Q535E,ENST00000615400,,c.1603C>G,MODERATE,,deleterious(0.02),benign(0.17),1;CACNA1C,missense_variant,p.Q535E,ENST00000621625,,c.1603C>G,MODERATE,,deleterious(0.02),benign(0.014),1;CACNA1C,missense_variant,p.Q535E,ENST00000613940,,c.1603C>G,MODERATE,,deleterious(0.02),benign(0.014),1;CACNA1C,missense_variant,p.Q694E,ENST00000399634,NM_001167625.1,c.2080C>G,MODERATE,,deleterious(0.02),probably_damaging(0.964),1;CACNA1C,missense_variant,p.Q694E,ENST00000406454,,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.425),1;CACNA1C,missense_variant,p.Q694E,ENST00000399617,NM_001167624.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.02),1;CACNA1C,missense_variant,p.Q694E,ENST00000399603,NM_001167623.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.411),1;CACNA1C,missense_variant,p.Q719E,ENST00000335762,,c.2155C>G,MODERATE,,deleterious(0.02),benign(0.041),1;CACNA1C,missense_variant,p.Q694E,ENST00000480911,,c.2080C>G,MODERATE,,deleterious(0.03),possibly_damaging(0.64),1;CACNA1C,missense_variant,p.Q694E,ENST00000347598,NM_199460.2&NM_001129827.1,c.2080C>G,MODERATE,YES,deleterious(0.02),benign(0.17),1;CACNA1C,missense_variant,p.Q694E,ENST00000344100,NM_001129829.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.024),1;CACNA1C,missense_variant,p.Q694E,ENST00000327702,NM_001129830.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.066),1;CACNA1C,missense_variant,p.Q694E,ENST00000399638,NM_001129831.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.073),1;CACNA1C,missense_variant,p.Q694E,ENST00000399606,NM_001129832.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.03),1;CACNA1C,missense_variant,p.Q694E,ENST00000402845,NM_001129833.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.041),1;CACNA1C,missense_variant,p.Q694E,ENST00000399621,NM_001129834.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.03),1;CACNA1C,missense_variant,p.Q694E,ENST00000399637,NM_001129835.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.024),1;CACNA1C,missense_variant,p.Q694E,ENST00000399629,NM_001129836.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.17),1;CACNA1C,missense_variant,p.Q694E,ENST00000399591,NM_001129838.1&NM_001129846.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.078),1;CACNA1C,missense_variant,p.Q694E,ENST00000399595,NM_001129837.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.041),1;CACNA1C,missense_variant,p.Q694E,ENST00000399649,NM_001129839.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.038),1;CACNA1C,missense_variant,p.Q694E,ENST00000399601,NM_001129843.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.073),1;CACNA1C,missense_variant,p.Q694E,ENST00000399597,NM_001129844.1&NM_001129842.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.073),1;CACNA1C,missense_variant,p.Q694E,ENST00000399644,NM_001129841.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.024),1;CACNA1C,missense_variant,p.Q694E,ENST00000399641,NM_001129840.1,c.2080C>G,MODERATE,,deleterious(0.02),benign(0.113),1;CACNA1C,upstream_gene_variant,,ENST00000465278,,,MODIFIER,,,,1	G	ENST00000347598	Transcript	missense_variant	missense_variant	2080/6655	2080/6561	694/2186	Q/E	Cag/Gag		1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_199460.2;NM_001129827.1	deleterious(0.02)	benign(0.17)	14/49		Pfam_domain:PF00520;Prints_domain:PR00167;Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1											PASS	TCCCCCAGTCC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			False	Unknown	G	3	3	77	2581774	2581774	C	G	1	0	0	0	0	1	0	0	0	2228	595	21	5		5	CACNA1C	12	2581774	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		2581774	130693535	15	1133											
SERTM1	400120	BI	GRCh38	chr13	36695199	36695199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggccacctgtcaaacGtctacatctatgtgtccata	6	14	4	0	rs776122890		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.121G>A	p.Val41Ile	p.V41I	ENST00000315190	2/2	186	179	7	136			SERTM1,missense_variant,p.V41I,ENST00000315190,NM_203451.2,c.121G>A,MODERATE,YES,deleterious_low_confidence(0.04),probably_damaging(0.981),1	A	ENST00000315190	Transcript	missense_variant	missense_variant	567/3207	121/324	41/107	V/I	Gtc/Atc	rs776122890	1		1	SERTM1	HGNC	HGNC:33792	protein_coding	YES	CCDS9358.1	ENSP00000325776	A2A2V5		UPI00000306E4	NM_203451.2	deleterious_low_confidence(0.04)	probably_damaging(0.981)	2/2		Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	CAAACGTCTAC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	36695199	36695199	G	A	1	0	0	0	0	1	0	0	0	14400	1145	40	1		1	SERTM1	13	36695199	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		36695199	77669129	16	1134											
CYSLTR2	57105	BI	GRCh38	chr13	48707203	48707203	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcagtatttatttccTgaccgtgctgagtgttgtgc	11	8	0	2			TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.386T>A	p.Leu129Gln	p.L129Q	ENST00000282018	1/1	276	161	115	187			CYSLTR2,missense_variant,p.L129Q,ENST00000282018,NM_020377.2,c.386T>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;CYSLTR2,missense_variant,p.L129Q,ENST00000614739,,c.386T>A,MODERATE,,deleterious(0),probably_damaging(1),1;CYSLTR2,downstream_gene_variant,,ENST00000622559,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000617562,,,MODIFIER,,,,1;CYSLTR2,downstream_gene_variant,,ENST00000621321,,,MODIFIER,,,,1	A	ENST00000282018	Transcript	missense_variant	missense_variant	649/4672	386/1041	129/346	L/Q	cTg/cAg		1		1	CYSLTR2	HGNC	HGNC:18274	protein_coding	YES	CCDS9412.1	ENSP00000282018	Q9NS75	Q5KU17	UPI000003BCCC	NM_020377.2	deleterious(0)	probably_damaging(1)	1/1		Pfam_domain:PF00001;Pfam_domain:PF05296;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Prints_domain:PR00237;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	TTTCCTGACCG	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8		COSM1666392	True	Unknown	A	3	1	77	48707203	48707203	T	A	1	0	0	0	0	1	0	0	0	4005	1580	55	5		5	CYSLTR2	13	48707203	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08	12012004	48707203	65657125	17	1135											
SPRY2	10253	BI	GRCh38	chr13	80337656	80337656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgccaccgtcacggggcGtctgcagcaagggctgcgac	15	14	3	0	rs372480996	byCluster;byFrequency	TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.50C>T	p.Thr17Met	p.T17M	ENST00000377102	2/2	99	50	49	105			SPRY2,missense_variant,p.T17M,ENST00000377102,,c.50C>T,MODERATE,YES,tolerated(0.18),benign(0.001),-1;SPRY2,missense_variant,p.T17M,ENST00000377104,NM_005842.2,c.50C>T,MODERATE,,tolerated(0.18),benign(0.001),-1;SPRY2,missense_variant,p.T17M,ENST00000540649,,c.50C>T,MODERATE,,tolerated(0.1),benign(0.008),-1	A	ENST00000377102	Transcript	missense_variant	missense_variant	1028/2708	50/948	17/315	T/M	aCg/aTg	rs372480996	1		-1	SPRY2	HGNC	HGNC:11270	protein_coding	YES	CCDS9463.1	ENSP00000366306	O43597		UPI0000001301		tolerated(0.18)	benign(0.001)	2/2										2e-04	0								MODERATE	1	SNV	1			1	2.471e-05	2.486e-05	0.0002927	0	0	0	0	0	0		PASS	GGGGCGTCTGC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	80337656	80337656	G	A	1	0	0	0	0	1	0	0	0	15462	1145	40	1		1	SPRY2	13	80337656	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08	31630453	80337656	34026672	18	1136											
FAM214A	56204	BI	GRCh38	chr15	52611146	52611146	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacctgtagagaatatttcGtggaatagcaccatgagaaa	9	6	0	2	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.514C>T	p.Arg172Ter	p.R172*	ENST00000261844	5/13	89	73	16	90			FAM214A,stop_gained,p.R172*,ENST00000261844,NM_019600.3,c.514C>T,HIGH,,,,-1;FAM214A,stop_gained,p.R179*,ENST00000546305,NM_001286495.1,c.535C>T,HIGH,YES,,,-1;FAM214A,stop_gained,p.R172*,ENST00000619572,,c.514C>T,HIGH,,,,-1;FAM214A,stop_gained,p.R84*,ENST00000399202,,c.250C>T,HIGH,,,,-1;FAM214A,downstream_gene_variant,,ENST00000561543,,,MODIFIER,,,,-1;FAM214A,downstream_gene_variant,,ENST00000562135,,,MODIFIER,,,,-1;FAM214A,downstream_gene_variant,,ENST00000566768,,,MODIFIER,,,,-1;FAM214A,downstream_gene_variant,,ENST00000561490,,,MODIFIER,,,,-1;FAM214A,downstream_gene_variant,,ENST00000568863,,,MODIFIER,,,,-1;FAM214A,stop_gained,p.R172*,ENST00000534964,,c.514C>T,HIGH,,,,-1;FAM214A,upstream_gene_variant,,ENST00000566948,,,MODIFIER,,,,-1	A	ENST00000261844	Transcript	stop_gained	stop_gained	667/4217	514/3231	172/1076	R/*	Cga/Tga		1		-1	FAM214A	HGNC	HGNC:25609	protein_coding		CCDS45263.1	ENSP00000261844	Q32MH5		UPI00001C1F8D	NM_019600.3			5/13																			HIGH		SNV	1			1											PASS	ATTTCGTGGAA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	4	1	77	52611146	52611146	G	A	1	0	0	0	0	0	1	0	0	5402	1153	40	1		1	FAM214A	15	52611146	Nonsense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		52611146	49380043	19	1137											
KIAA0430	9665	BI	GRCh38	chr16	15596756	15596756	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttgactctatttttgggttgCtttttggccgggctttccac	10	9	1	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.5166G>C	p.Lys1722Asn	p.K1722N	ENST00000396368	27/27	85	31	54	102			KIAA0430,missense_variant,p.K1722N,ENST00000396368,NM_014647.3,c.5166G>C,MODERATE,YES,deleterious(0),probably_damaging(0.92),-1;KIAA0430,missense_variant,p.K1557N,ENST00000540441,,c.4671G>C,MODERATE,,deleterious(0.01),probably_damaging(0.979),-1;KIAA0430,missense_variant,p.K1722N,ENST00000551742,NM_001184998.1,c.5166G>C,MODERATE,,deleterious(0.01),possibly_damaging(0.791),-1;KIAA0430,missense_variant,p.K1719N,ENST00000548025,NM_001184999.1,c.5157G>C,MODERATE,,deleterious(0),possibly_damaging(0.697),-1;C16orf45,intron_variant,,ENST00000565857,,c.*12+5641C>G,MODIFIER,,,,1;KIAA0430,3_prime_UTR_variant,,ENST00000552553,,c.*1876G>C,MODIFIER,,,,-1;KIAA0430,3_prime_UTR_variant,,ENST00000551878,,c.*420G>C,MODIFIER,,,,-1;KIAA0430,non_coding_transcript_exon_variant,,ENST00000552771,,n.1789G>C,MODIFIER,,,,-1;KIAA0430,downstream_gene_variant,,ENST00000549337,,,MODIFIER,,,,-1;KIAA0430,downstream_gene_variant,,ENST00000551579,,,MODIFIER,,,,-1	G	ENST00000396368	Transcript	missense_variant	missense_variant	5373/7743	5166/5229	1722/1742	K/N	aaG/aaC		1		-1	KIAA0430	HGNC	HGNC:29562	protein_coding	YES	CCDS10562.2	ENSP00000379654	Q9Y4F3		UPI00006881BC	NM_014647.3	deleterious(0)	probably_damaging(0.92)	27/27																			MODERATE	1	SNV	1			1											PASS	GGTTGCTTTTT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	G	3	3	77	15596756	15596756	C	G	1	0	0	0	0	1	0	0	0	8086	796	28	5		5	KIAA0430	16	15596756	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08		15596756	74741589	20	1138											
NSMCE1	197370	BI	GRCh38	chr16	27257551	27257551	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catcagtcatgacgcccattCtccttgtgctgccctgcatg	8	15	3	1	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.20G>A	p.Arg7Lys	p.R7K	ENST00000361439	2/8	69	65	4	79			NSMCE1,missense_variant,p.R7K,ENST00000361439,NM_145080.3,c.20G>A,MODERATE,YES,tolerated_low_confidence(0.12),benign(0.002),-1;NSMCE1,missense_variant,p.R7K,ENST00000563273,,c.20G>A,MODERATE,,tolerated_low_confidence(0.14),benign(0.003),-1;NSMCE1,missense_variant,p.R7K,ENST00000564342,,c.20G>A,MODERATE,,tolerated(0.13),benign(0.002),-1;NSMCE1,missense_variant,p.R7K,ENST00000563900,,c.20G>A,MODERATE,,tolerated(0.13),benign(0.002),-1;NSMCE1,missense_variant,p.R7K,ENST00000567710,,c.20G>A,MODERATE,,,,-1;NSMCE1,non_coding_transcript_exon_variant,,ENST00000563512,,n.261G>A,MODIFIER,,,,-1;NSMCE1,missense_variant,p.R7K,ENST00000569236,,c.20G>A,MODERATE,,tolerated_low_confidence(0.06),benign(0.14),-1;NSMCE1,missense_variant,p.R7K,ENST00000566087,,c.20G>A,MODERATE,,tolerated_low_confidence(0.06),benign(0.14),-1;NSMCE1,non_coding_transcript_exon_variant,,ENST00000565070,,n.67G>A,MODIFIER,,,,-1;NSMCE1,non_coding_transcript_exon_variant,,ENST00000561960,,n.88G>A,MODIFIER,,,,-1;NSMCE1,non_coding_transcript_exon_variant,,ENST00000565626,,n.50G>A,MODIFIER,,,,-1	T	ENST00000361439	Transcript	missense_variant	missense_variant	120/1067	20/801	7/266	R/K	aGa/aAa		1		-1	NSMCE1	HGNC	HGNC:29897	protein_coding	YES	CCDS10628.2	ENSP00000355077	Q8WV22		UPI0000035D91	NM_145080.3	tolerated_low_confidence(0.12)	benign(0.002)	2/8																			MODERATE	1	SNV	1			1											PASS	CCATTCTCCTT	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			False	Unknown	T	3	4	77	27257551	27257551	C	T	1	0	0	0	0	1	0	0	0	10735	913	32	3		3	NSMCE1	16	27257551	Missense_Mutation	SNP	C	TCGA-YZ-A982-01A-11D-A39W-08	11660795	27257551	63080794	21	1139											
BAHCC1	57597	BI	GRCh38	chr17	81444745	81444745	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgtgccctctgtcTtccccctcccacaggacgcc	8	21	2	0	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.2590T>A	p.Phe864Ile	p.F864I	ENST00000584436	8/29	38	20	18	43			BAHCC1,missense_variant,p.F864I,ENST00000584436,NM_001291324.1,c.2590T>A,MODERATE,YES,,possibly_damaging(0.798),1;BAHCC1,missense_variant,p.F864I,ENST00000307745,NM_001080519.2,c.2590T>A,MODERATE,,,possibly_damaging(0.508),1;BAHCC1,downstream_gene_variant,,ENST00000585224,,,MODIFIER,,,,1	A	ENST00000584436	Transcript	missense_variant	missense_variant	2957/10801	2590/7920	864/2639	F/I	Ttc/Atc		1		1	BAHCC1	HGNC	HGNC:29279	protein_coding	YES	CCDS74173.1	ENSP00000462154		A0A075B747	UPI0003EAE637	NM_001291324.1		possibly_damaging(0.798)	8/29		PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1											PASS	CTGTCTTCCCC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	81444745	81444745	T	A	1	0	0	0	0	1	0	0	0	1451	1609	56	5		5	BAHCC1	17	81444745	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08		81444745	1812696	22	1140											
TBCD	6904	BI	GRCh38	chr17	82870293	82870293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcgtgggcaccaacgTcagggacgccgcctgctacg	14	15	1	0	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1388T>C	p.Val463Ala	p.V463A	ENST00000355528	14/39	57	32	25	60			TBCD,missense_variant,p.V463A,ENST00000355528,NM_005993.4,c.1388T>C,MODERATE,YES,deleterious(0),possibly_damaging(0.529),1;TBCD,missense_variant,p.V463A,ENST00000539345,,c.1388T>C,MODERATE,,deleterious(0),possibly_damaging(0.831),1;TBCD,5_prime_UTR_variant,,ENST00000576160,,c.-299T>C,MODIFIER,,,,1;TBCD,5_prime_UTR_variant,,ENST00000571712,,c.-356T>C,MODIFIER,,,,1;TBCD,5_prime_UTR_variant,,ENST00000576996,,c.-299T>C,MODIFIER,,,,1;TBCD,non_coding_transcript_exon_variant,,ENST00000574801,,n.207T>C,MODIFIER,,,,1	C	ENST00000355528	Transcript	missense_variant	missense_variant	1518/7168	1388/3579	463/1192	V/A	gTc/gCc		1		1	TBCD	HGNC	HGNC:11581	protein_coding	YES	CCDS45818.1	ENSP00000347719	Q9BTW9			NM_005993.4	deleterious(0)	possibly_damaging(0.529)	14/39		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CAACGTCAGGG	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	C	3	2	77	82870293	82870293	T	C	1	0	0	0	0	1	0	0	0	16038	1667	58	4		4	TBCD	17	82870293	Missense_Mutation	SNP	T	TCGA-YZ-A982-01A-11D-A39W-08	1425548	82870293	387148	23	1141											
MUC16	94025	BI	GRCh38	chr19	8972656	8972656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgatttcagacatgGctgtaacctcacctgggttc	11	10	2	2	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.8483C>T	p.Ala2828Val	p.A2828V	ENST00000397910	1/84	18	13	5	39			MUC16,missense_variant,p.A2828V,ENST00000397910,NM_024690.2,c.8483C>T,MODERATE,YES,,unknown(0),-1	A	ENST00000397910	Transcript	missense_variant	missense_variant	8687/43816	8483/43524	2828/14507	A/V	gCc/gTc		1		-1	MUC16	HGNC	HGNC:15582	protein_coding	YES	CCDS54212.1	ENSP00000381008		B5ME49	UPI000065CA24	NM_024690.2		unknown(0)	1/84		PROSITE_profiles:PS50324;PROSITE_profiles:PS50325																	MODERATE	1	SNV	5			1											PASS	ACATGGCTGTA	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	A	3	1	77	8972656	8972656	G	A	1	0	0	0	0	1	0	0	0	9972	1203	42	3		3	MUC16	19	8972656	Missense_Mutation	SNP	G	TCGA-YZ-A982-01A-11D-A39W-08		8972656	49644960	24	1142											
MYO9B	4650	BI	GRCh38	chr19	17206737	17206738	+	In_Frame_Ins	INS	-	-	GAAGCCAACCACAACTCCCTG													ccgtcctggagcaccttccaINSgaagccaaccacaactccct					novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.5448_5468dupAGCCAACCACAACTCCCTGGA	p.Ala1817_Glu1823dup	p.A1817_E1823dup	ENST00000594824	34/40	5	2	3	11			MYO9B,inframe_insertion,p.A1817_E1823dup,ENST00000595618,NM_001130065.1,c.5448_5468dupAGCCAACCACAACTCCCTGGA,MODERATE,YES,,,1;MYO9B,inframe_insertion,p.A1817_E1823dup,ENST00000594824,NM_004145.3,c.5448_5468dupAGCCAACCACAACTCCCTGGA,MODERATE,,,,1;MYO9B,inframe_insertion,p.A1817_E1823dup,ENST00000397274,,c.5448_5468dupAGCCAACCACAACTCCCTGGA,MODERATE,,,,1;MYO9B,inframe_insertion,p.A1817_E1823dup,ENST00000595641,,c.5448_5468dupAGCCAACCACAACTCCCTGGA,MODERATE,,,,1;MYO9B,inframe_insertion,p.A19_E25dup,ENST00000596942,,c.52_72dupAGCCAACCACAACTCCCTGGA,MODERATE,,,,1;MYO9B,upstream_gene_variant,,ENST00000597073,,,MODIFIER,,,,1;MYO9B,upstream_gene_variant,,ENST00000598419,,,MODIFIER,,,,1;CTD-3032J10.3,downstream_gene_variant,,ENST00000601929,,,MODIFIER,YES,,,-1;MYO9B,non_coding_transcript_exon_variant,,ENST00000593533,,n.890_910dupAGCCAACCACAACTCCCTGGA,MODIFIER,,,,1;MYO9B,downstream_gene_variant,,ENST00000599420,,,MODIFIER,,,,1;MYO9B,upstream_gene_variant,,ENST00000597572,,,MODIFIER,,,,1;MYO9B,downstream_gene_variant,,ENST00000602158,,,MODIFIER,,,,1;MYO9B,upstream_gene_variant,,ENST00000597881,,,MODIFIER,,,,1	GAAGCCAACCACAACTCCCTG	ENST00000594824	Transcript	inframe_insertion	inframe_insertion	5592-5593/7595	5445-5446/6474	1815-1816/2157	-/EANHNSL	-/GAAGCCAACCACAACTCCCTG		1		1	MYO9B	HGNC	HGNC:7609	protein_coding			ENSP00000471367		M0R0P8	UPI0002A47676	NM_004145.3			34/40		Pfam_domain:PF00620;PROSITE_profiles:PS50238;SMART_domains:SM00324;Superfamily_domains:SSF48350																	MODERATE		insertion	5	23		1											PASS	CTTCCAGAAGC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			False	Unknown	GAAGCCAACCACAACTCCCTG	7	5	77	17206737	17206737	-	GAAGCCAACCACAACTCCCTG	1	0	1	1	0	0	0	0	0	10086	175	7	0		0	MYO9B	19	17206737	In_Frame_Ins	INS	-	TCGA-YZ-A982-01A-11D-A39W-08	8234081	17206737	41410879	25	1143											
PPP2R1A	5518	BI	GRCh38	chr19	52221002	52221002	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccgcgaggcagccAccagcaacctgaagaagcta	10	14	0	2	novel		TCGA-YZ-A982-01A-11D-A39W-08	TCGA-YZ-A982-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	6dd88bd4-a48e-4288-8b66-2a1c65794e06	926d3706-e1ae-4b81-aaac-c8b57a5bb970	c.1387A>C	p.Thr463Pro	p.T463P	ENST00000322088	12/15	47	27	20	83			PPP2R1A,missense_variant,p.T463P,ENST00000322088,NM_014225.5,c.1387A>C,MODERATE,YES,deleterious(0),possibly_damaging(0.63),1;PPP2R1A,missense_variant,p.T284P,ENST00000462990,,c.850A>C,MODERATE,,deleterious(0),possibly_damaging(0.63),1;PPP2R1A,missense_variant,p.T8P,ENST00000391791,,c.20A>C,MODERATE,,deleterious(0),probably_damaging(0.968),1;PPP2R1A,downstream_gene_variant,,ENST00000454220,,,MODIFIER,,,,1;MIR6801,upstream_gene_variant,,ENST00000614975,,,MODIFIER,YES,,,1;CTD-2525I3.3,downstream_gene_variant,,ENST00000593857,,,MODIFIER,,,,-1;PPP2R1A,downstream_gene_variant,,ENST00000473820,,,MODIFIER,,,,1	C	ENST00000322088	Transcript	missense_variant	missense_variant	1445/5380	1387/1770	463/589	T/P	Acc/Ccc		1		1	PPP2R1A	HGNC	HGNC:9302	protein_coding	YES	CCDS12849.1	ENSP00000324804	P30153	A8K7B7	UPI000006EB9C	NM_014225.5	deleterious(0)	possibly_damaging(0.63)	12/15		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1											PASS	CAGCCACCAGC	87ee424d-3e71-4428-b72c-2b0f8b2740e8	a71f1add-ed27-4c38-8de1-7f3206e1e36b	4d980c39-0396-4a7b-97df-47ed7b6f0473	cba920f4-c57f-47bc-958d-9b7872df01c8			True	Unknown	C	3	2	77	52221002	52221002	A	C	1	0	0	0	0	1	0	0	0	12505	159	6	5		5	PPP2R1A	19	52221002	Missense_Mutation	SNP	A	TCGA-YZ-A982-01A-11D-A39W-08	35014265	52221002	6396614	26	1144											
VASH2	79805	BI	GRCh38	chr1	212972662	212972662	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaaactactttcaccacGttgtgctggggatttactgc	10	10	1	0	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.580G>T	p.Val194Phe	p.V194F	ENST00000517399	5/7	69	40	29	83			VASH2,missense_variant,p.V129F,ENST00000366968,NM_001136474.1,c.385G>T,MODERATE,,deleterious(0),possibly_damaging(0.857),1;VASH2,missense_variant,p.V150F,ENST00000366965,NM_024749.3,c.448G>T,MODERATE,,deleterious(0),possibly_damaging(0.738),1;VASH2,missense_variant,p.V129F,ENST00000366966,,c.385G>T,MODERATE,,deleterious(0),possibly_damaging(0.857),1;VASH2,missense_variant,p.V90F,ENST00000366967,NM_001136475.1,c.268G>T,MODERATE,,deleterious(0),possibly_damaging(0.857),1;VASH2,missense_variant,p.V194F,ENST00000517399,NM_001301056.1,c.580G>T,MODERATE,YES,deleterious(0),possibly_damaging(0.857),1;VASH2,downstream_gene_variant,,ENST00000366964,,,MODIFIER,,,,1;VASH2,non_coding_transcript_exon_variant,,ENST00000271776,,n.453G>T,MODIFIER,,,,1;VASH2,non_coding_transcript_exon_variant,,ENST00000366969,,n.223G>T,MODIFIER,,,,1	T	ENST00000517399	Transcript	missense_variant	missense_variant	580/1068	580/1068	194/355	V/F	Gtt/Ttt		1		1	VASH2	HGNC	HGNC:25723	protein_coding	YES	CCDS73026.1	ENSP00000428324	Q86V25		UPI0000205E4B	NM_001301056.1	deleterious(0)	possibly_damaging(0.857)	5/7																			MODERATE	1	SNV	1			1											PASS	ACCACGTTGTG	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	T	3	4	78	212972662	212972662	G	T	1	0	0	0	0	1	0	0	0	17671	1145	40	5		5	VASH2	1	212972662	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		212972662	35983760	1	1145											
LRP1B	53353	BI	GRCh38	chr2	140334479	140334479	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtaagttcttttgtActaaaatccttctcagtgta	6	8	3	0	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.12197T>C	p.Val4066Ala	p.V4066A	ENST00000389484	79/91	54	29	25	55			LRP1B,missense_variant,p.V4066A,ENST00000389484,NM_018557.2,c.12197T>C,MODERATE,YES,,benign(0.008),-1;LRP1B,missense_variant,p.V3952A,ENST00000618808,,c.11855T>C,MODERATE,,,benign(0.008),-1;LRP1B,missense_variant,p.V298A,ENST00000437977,,c.892T>C,MODERATE,,deleterious(0),possibly_damaging(0.517),-1	G	ENST00000389484	Transcript	missense_variant	missense_variant	13169/16535	12197/13800	4066/4599	V/A	gTa/gCa		1		-1	LRP1B	HGNC	HGNC:6693	protein_coding	YES	CCDS2182.1	ENSP00000374135	Q9NZR2		UPI00001B045B	NM_018557.2		benign(0.008)	79/91		Pfam_domain:PF00058;PROSITE_profiles:PS51120;SMART_domains:SM00135;Superfamily_domains:SSF63825;Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1											PASS	TTTGTACTAAA	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	G	3	3	78	140334479	140334479	A	G	1	0	0	0	0	1	0	0	0	8850	391	14	4		4	LRP1B	2	140334479	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		140334479	101859050	2	1146											
GOLGA4	2803	BI	GRCh38	chr3	37327495	37327495	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtaagacagaaagaagtacAtagagttgaaatggaagagt	12	2	0	6	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.5609A>C	p.His1870Pro	p.H1870P	ENST00000361924	14/24	34	10	24	60			GOLGA4,missense_variant,p.H1870P,ENST00000361924,NM_002078.4,c.5609A>C,MODERATE,,,benign(0.056),1;GOLGA4,missense_variant,p.H1892P,ENST00000356847,NM_001172713.1,c.5675A>C,MODERATE,YES,,benign(0.12),1;GOLGA4,missense_variant,p.H1741P,ENST00000437131,,c.5222A>C,MODERATE,,,benign(0.12),1;GOLGA4,intron_variant,,ENST00000444882,,c.478-38585A>C,MODIFIER,,,,1;GOLGA4,downstream_gene_variant,,ENST00000429018,,,MODIFIER,,,,1;GOLGA4,upstream_gene_variant,,ENST00000498250,,,MODIFIER,,,,1;GOLGA4,downstream_gene_variant,,ENST00000497537,,,MODIFIER,,,,1	C	ENST00000361924	Transcript	missense_variant	missense_variant	5983/7772	5609/6693	1870/2230	H/P	cAt/cCt		1		1	GOLGA4	HGNC	HGNC:4427	protein_coding		CCDS2666.1	ENSP00000354486	Q13439			NM_002078.4		benign(0.056)	14/24		Coiled-coils_(Ncoils):ncoils;PROSITE_profiles:PS50313																	MODERATE		SNV	1			1											PASS	AGTACATAGAG	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	37327495	37327495	A	C	1	0	0	0	0	1	0	0	0	6433	217	8	5		5	GOLGA4	3	37327495	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		37327495	160968064	3	1147											
TMEM39A	55254	BI	GRCh38	chr3	119436939	119436939	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attgatccacaccataatgaGgtgctcacatgaccagcgca	8	12	1	3	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.964C>G	p.Leu322Val	p.L322V	ENST00000319172	7/9	92	56	36	177			TMEM39A,missense_variant,p.L322V,ENST00000319172,NM_018266.2,c.964C>G,MODERATE,YES,tolerated(0.45),probably_damaging(0.947),-1;TMEM39A,downstream_gene_variant,,ENST00000491685,,,MODIFIER,,,,-1;TMEM39A,downstream_gene_variant,,ENST00000486159,,,MODIFIER,,,,-1;TMEM39A,3_prime_UTR_variant,,ENST00000438581,,c.*632C>G,MODIFIER,,,,-1;TMEM39A,non_coding_transcript_exon_variant,,ENST00000468545,,n.225C>G,MODIFIER,,,,-1;TMEM39A,upstream_gene_variant,,ENST00000473684,,,MODIFIER,,,,-1	C	ENST00000319172	Transcript	missense_variant	missense_variant	1385/4369	964/1467	322/488	L/V	Ctc/Gtc		1		-1	TMEM39A	HGNC	HGNC:25600	protein_coding	YES	CCDS2987.1	ENSP00000326063	Q9NV64		UPI00000715E5	NM_018266.2	tolerated(0.45)	probably_damaging(0.947)	7/9		Pfam_domain:PF10271;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	AATGAGGTGCT	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	119436939	119436939	G	C	1	0	0	0	0	1	0	0	0	16638	1000	35	5		5	TMEM39A	3	119436939	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	82109444	119436939	78858620	4	1148											
PCDHGB1	56104	BI	GRCh38	chr5	141350587	141350587	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgaaacggtcgctgaaaaCccaatgaatgttttccacgt	8	10	0	2	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.327C>A	p.Asn109Lys	p.N109K	ENST00000523390	1/4	31	28	3	54			PCDHGB1,missense_variant,p.N109K,ENST00000523390,NM_018922.2,c.327C>A,MODERATE,YES,tolerated(0.15),benign(0.252),1;PCDHGB1,missense_variant,p.N109K,ENST00000611598,NM_032095.1,c.327C>A,MODERATE,,tolerated(0.12),benign(0.036),1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,c.2424+4130C>A,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3,c.2424+9192C>A,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+17482C>A,MODIFIER,YES,,,1;PCDHGA4,upstream_gene_variant,,ENST00000571252,NM_018917.3,,MODIFIER,YES,,,1;PCDHGA3,downstream_gene_variant,,ENST00000619750,NM_032011.1,,MODIFIER,,,,1;PCDHGA4,upstream_gene_variant,,ENST00000612927,NM_032053.2,,MODIFIER,,,,1;AC005618.8,non_coding_transcript_exon_variant,,ENST00000625053,,n.76G>T,MODIFIER,YES,,,-1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2003+4130C>A,MODIFIER,,,,1	A	ENST00000523390	Transcript	missense_variant	missense_variant	327/4590	327/2784	109/927	N/K	aaC/aaA		1		1	PCDHGB1	HGNC	HGNC:8708	protein_coding	YES	CCDS54923.1	ENSP00000429273	Q9Y5G3		UPI0000073588	NM_018922.2	tolerated(0.15)	benign(0.252)	1/4		Pfam_domain:PF08266;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	GAAAACCCAAT	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	A	3	1	78	141350587	141350587	C	A	1	0	0	0	0	1	0	0	0	11649	506	18	5		5	PCDHGB1	5	141350587	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		141350587	40187672	5	1149											
SNAP91	9892	BI	GRCh38	chr6	83582260	83582260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctggaagttgaaggcGttgtcccaaaagctgcctca	12	10	1	1	rs764466153	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.2111C>T	p.Thr704Met	p.T704M	ENST00000369694	23/30	49	31	18	54			SNAP91,missense_variant,p.T704M,ENST00000521485,,c.2111C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.858),-1;SNAP91,missense_variant,p.T704M,ENST00000439399,NM_014841.2,c.2111C>T,MODERATE,YES,tolerated(0.06),probably_damaging(0.95),-1;SNAP91,missense_variant,p.T704M,ENST00000369694,NM_001242792.1,c.2111C>T,MODERATE,,tolerated(0.06),probably_damaging(0.95),-1;SNAP91,missense_variant,p.T704M,ENST00000195649,NM_001256718.1,c.2111C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.858),-1;SNAP91,missense_variant,p.T704M,ENST00000521743,,c.2111C>T,MODERATE,,tolerated(0.06),probably_damaging(0.95),-1;SNAP91,missense_variant,p.T674M,ENST00000520302,NM_001256717.1&NM_001242793.1,c.2021C>T,MODERATE,,deleterious(0.04),possibly_damaging(0.886),-1;SNAP91,missense_variant,p.T397M,ENST00000520213,NM_001242794.1,c.1190C>T,MODERATE,,tolerated(0.14),probably_damaging(0.966),-1;SNAP91,missense_variant,p.T517M,ENST00000521931,,c.1550C>T,MODERATE,,,,-1;SNAP91,missense_variant,p.T45M,ENST00000523448,,c.134C>T,MODERATE,,deleterious(0.02),possibly_damaging(0.857),-1;SNAP91,upstream_gene_variant,,ENST00000519133,,,MODIFIER,,,,-1;SNAP91,3_prime_UTR_variant,,ENST00000518312,,c.*2202C>T,MODIFIER,,,,-1;SNAP91,3_prime_UTR_variant,,ENST00000521616,,c.*1836C>T,MODIFIER,,,,-1	A	ENST00000369694	Transcript	missense_variant	missense_variant	2425/4449	2111/2724	704/907	T/M	aCg/aTg	rs764466153	1		-1	SNAP91	HGNC	HGNC:14986	protein_coding		CCDS47455.1	ENSP00000358708	O60641		UPI0000124FB3	NM_001242792.1	tolerated(0.06)	probably_damaging(0.95)	23/30		Low_complexity_(Seg):Seg																	MODERATE		SNV	5			1	2.48e-05	2.486e-05	0	8.666e-05	0	0	1.499e-05	0	6.06e-05		panel_of_normals	AAGGCGTTGTC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd	gdc_pon		True	Unknown	A	3	1	78	83582260	83582260	G	A	1	0	0	0	0	1	0	0	0	15154	1145	40	1		1	SNAP91	6	83582260	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		83582260	87223719	6	1150											
OPRM1	4988	BI	GRCh38	chr6	154090123	154090123	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgtctgcaactggatcctCtcttcagccattggtcttcc	7	13	4	0			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.588C>T	p.=	p.L196L	ENST00000330432	2/4	66	39	27	106			OPRM1,synonymous_variant,p.L196L,ENST00000414028,NM_001145284.3,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L96L,ENST00000522236,NM_001145287.2,c.288C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L96L,ENST00000522555,NM_001285526.1,c.288C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000435918,NM_001145283.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000330432,NM_000914.4,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L289L,ENST00000434900,NM_001285524.1&NM_001145279.3,c.867C>T,LOW,YES,,,1;OPRM1,synonymous_variant,p.L258L,ENST00000360422,NM_001285523.1,c.774C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L96L,ENST00000520708,NM_001145280.3,c.288C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000428397,NM_001008504.3,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000229768,NM_001008505.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000419506,NM_001145286.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000337049,NM_001008503.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000452687,NM_001145282.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000524163,NM_001145285.2,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L115L,ENST00000518759,NM_001145281.2,c.345C>T,LOW,,,,1;OPRM1,downstream_gene_variant,,ENST00000520282,,,MODIFIER,,,,1;OPRM1,non_coding_transcript_exon_variant,,ENST00000522382,,n.362C>T,MODIFIER,,,,1;OPRM1,non_coding_transcript_exon_variant,,ENST00000519613,,n.520C>T,MODIFIER,,,,1;OPRM1,non_coding_transcript_exon_variant,,ENST00000521106,,n.298C>T,MODIFIER,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000519083,,c.588C>T,LOW,,,,1;OPRM1,synonymous_variant,p.L196L,ENST00000522739,,c.588C>T,LOW,,,,1;OPRM1,intron_variant,,ENST00000524150,,c.291-829C>T,MODIFIER,,,,1	T	ENST00000330432	Transcript	synonymous_variant	synonymous_variant	825/2178	588/1203	196/400	L	ctC/ctT		1		1	OPRM1	HGNC	HGNC:8156	protein_coding		CCDS55070.1	ENSP00000328264	P35372		UPI0000130D9C	NM_000914.4			2/4		Pfam_domain:PF00001;Pfam_domain:PF10320;Pfam_domain:PF10328;Transmembrane_helices:Tmhmm;Prints_domain:PR00237;Prints_domain:PR01855;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW		SNV	1			1											PASS	ATCCTCTCTTC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd		COSM3920935;COSM3920936;COSM3920937;COSM3920938;COSM3920939;COSM3920940	True	Unknown	T	2	4	78	154090123	154090123	C	T	1	0	0	0	0	0	0	0	1	10962	900	32	3		3	OPRM1	6	154090123	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	70507863	154090123	16715856	7	1151											
ERMARD	55780	BI	GRCh38	chr6	169776007	169776007	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaatgacggatgagctgtatCaccatatgcctgagaatcgt	10	8	1	3	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1462C>T	p.His488Tyr	p.H488Y	ENST00000366773	15/18	54	30	24	76			ERMARD,missense_variant,p.H352Y,ENST00000588451,,c.1054C>T,MODERATE,,tolerated(0.68),benign(0.271),1;ERMARD,missense_variant,p.H488Y,ENST00000366773,NM_018341.2,c.1462C>T,MODERATE,YES,tolerated(0.68),benign(0.003),1;ERMARD,missense_variant,p.H488Y,ENST00000366772,NM_001278531.1,c.1462C>T,MODERATE,,tolerated(0.48),benign(0.009),1;ERMARD,missense_variant,p.H362Y,ENST00000392095,NM_001278532.1,c.1084C>T,MODERATE,,tolerated(0.51),benign(0.003),1;ERMARD,missense_variant,p.H488Y,ENST00000418781,NM_001278533.1,c.1462C>T,MODERATE,,tolerated(0.5),benign(0.002),1;RP1-266L20.9,downstream_gene_variant,,ENST00000586101,,,MODIFIER,YES,,,1;ERMARD,non_coding_transcript_exon_variant,,ENST00000366771,,n.1560C>T,MODIFIER,,,,1;ERMARD,non_coding_transcript_exon_variant,,ENST00000477995,,n.130C>T,MODIFIER,,,,1;ERMARD,non_coding_transcript_exon_variant,,ENST00000492738,,n.504C>T,MODIFIER,,,,1	T	ENST00000366773	Transcript	missense_variant	missense_variant	1495/2141	1462/2037	488/678	H/Y	Cac/Tac		1		1	ERMARD	HGNC	HGNC:21056	protein_coding	YES	CCDS34576.1	ENSP00000355735	Q5T6L9		UPI000020DF6E	NM_018341.2	tolerated(0.68)	benign(0.003)	15/18																			MODERATE	1	SNV	2			1											PASS	TGTATCACCAT	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	T	3	4	78	169776007	169776007	C	T	1	0	0	0	0	1	0	0	0	5092	826	29	3		3	ERMARD	6	169776007	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	15685884	169776007	1029972	8	1152											
LMTK2	22853	BI	GRCh38	chr7	98191906	98191906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtatgtctgggaggccGctaagcacgaccactttgac	12	11	1	1	rs144291659	byCluster	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1441G>A	p.Ala481Thr	p.A481T	ENST00000297293	11/14	33	30	3	42			LMTK2,missense_variant,p.A481T,ENST00000297293,NM_014916.3,c.1441G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1	A	ENST00000297293	Transcript	missense_variant	missense_variant	1734/8946	1441/4512	481/1503	A/T	Gct/Act	rs144291659	1		1	LMTK2	HGNC	HGNC:17880	protein_coding	YES	CCDS5654.1	ENSP00000297293	Q8IWU2		UPI000014F277	NM_014916.3	deleterious(0)	probably_damaging(1)	11/14										0	2e-04								MODERATE	1	SNV	1			1	4.118e-05	4.123e-05	0	0	0	0	4.502e-05	0	0.0001211		PASS	AGGCCGCTAAG	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	A	3	1	78	98191906	98191906	G	A	1	0	0	0	0	1	0	0	0	8786	1087	38	2		2	LMTK2	7	98191906	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		98191906	61154067	9	1153											
PTPRD	5789	BI	GRCh38	chr9	8331704	8331704	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctggccagtcagtgaaCtggaactgccttactgttcg	11	11	2	1	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.5412G>A	p.=	p.Q1804Q	ENST00000356435	33/35	135	124	11	180			PTPRD,synonymous_variant,p.Q1804Q,ENST00000381196,NM_002839.3,c.5412G>A,LOW,YES,,,-1;PTPRD,synonymous_variant,p.Q1804Q,ENST00000356435,,c.5412G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1398Q,ENST00000355233,NM_130392.3,c.4194G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1397Q,ENST00000397617,,c.4191G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1394Q,ENST00000397611,NM_001040712.2,c.4182G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1388Q,ENST00000537002,NM_130393.3,c.4164G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1804Q,ENST00000540109,,c.5412G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1397Q,ENST00000486161,NM_130391.3,c.4191G>A,LOW,,,,-1;PTPRD,synonymous_variant,p.Q1397Q,ENST00000397606,NM_001171025.1,c.4191G>A,LOW,,,,-1	T	ENST00000356435	Transcript	synonymous_variant	synonymous_variant	5518/9472	5412/5739	1804/1912	Q	caG/caA		1		-1	PTPRD	HGNC	HGNC:9668	protein_coding		CCDS43786.1	ENSP00000348812	P23468		UPI0000132990				33/35		Pfam_domain:PF00102;PROSITE_profiles:PS50055;SMART_domains:SM00194;SMART_domains:SM00404;Superfamily_domains:SSF52799																	LOW		SNV	5			1											PASS	GTGAACTGGAA	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	T	2	4	78	8331704	8331704	C	T	1	0	0	0	0	0	0	0	1	12953	564	20	3		3	PTPRD	9	8331704	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		8331704	130063013	10	1154											
GNAQ	2776	BI	GRCh38	chr9	77794572	77794572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attttcttctctctgaccttTggccccctacatcgaccatt	4	15	3	1	rs121913492	byCluster	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.626A>C	p.Gln209Pro	p.Q209P	ENST00000286548	5/7	72	41	31	95			GNAQ,missense_variant,p.Q209P,ENST00000286548,NM_002072.4,c.626A>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;GNAQ,downstream_gene_variant,,ENST00000411677,,,MODIFIER,,,,-1	G	ENST00000286548	Transcript	missense_variant	missense_variant	849/6539	626/1080	209/359	Q/P	cAa/cCa	rs121913492	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0)	probably_damaging(0.999)	5/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	ACCTTTGGCCC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd		COSM28758	True	Unknown	G	3	3	78	77794572	77794572	T	G	1	0	0	0	0	1	0	0	0	6389	1812	63	5		5	GNAQ	9	77794572	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08	69462868	77794572	60600145	11	1155											
GABBR2	9568	BI	GRCh38	chr9	98541891	98541891	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagagaacctctgaacGtcttgcgtcagcgtgcccac	9	15	4	2	rs142025089	by1000G;byCluster;byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.612C>T	p.=	p.D204D	ENST00000259455	3/19	28	17	11	43			GABBR2,synonymous_variant,p.D204D,ENST00000259455,NM_005458.7,c.612C>T,LOW,YES,,,-1;GABBR2,non_coding_transcript_exon_variant,,ENST00000477471,,n.399C>T,MODIFIER,,,,-1	A	ENST00000259455	Transcript	synonymous_variant	synonymous_variant	1072/5761	612/2826	204/941	D	gaC/gaT	rs142025089	1		-1	GABBR2	HGNC	HGNC:4507	protein_coding	YES	CCDS6736.1	ENSP00000259455	O75899	H9NIL8	UPI0000035832	NM_005458.7			3/19		Pfam_domain:PF01094;Superfamily_domains:SSF53822	6e-04	0.0023	0		0	0	0	5e-04	0								LOW	1	SNV	1			1	3.295e-05	3.3e-05	0.0003846	0	0	0	0	0	0		PASS	TGAACGTCTTG	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd		COSM3902492	True	Unknown	A	2	1	78	98541891	98541891	G	A	1	0	0	0	0	0	0	0	1	6027	1136	40	1		1	GABBR2	9	98541891	Silent	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08	20747319	98541891	39852826	12	1156											
PRRC2B	84726	BI	GRCh38	chr9	131475511	131475511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccagagccaagccccgaCggagagttgccagtgagacc	13	15	0	3	rs559310957	by1000G	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.3382C>T	p.Arg1128Trp	p.R1128W	ENST00000357304	15/31	18	14	4	23			PRRC2B,missense_variant,p.R1128W,ENST00000357304,NM_013318.3,c.3382C>T,MODERATE,YES,deleterious(0),benign(0.028),1;PRRC2B,intron_variant,,ENST00000405995,,c.2324+1787C>T,MODIFIER,,,,1;PRRC2B,upstream_gene_variant,,ENST00000451855,,,MODIFIER,,,,1;PRRC2B,downstream_gene_variant,,ENST00000422467,,,MODIFIER,,,,1;PRRC2B,downstream_gene_variant,,ENST00000456307,,,MODIFIER,,,,1	T	ENST00000357304	Transcript	missense_variant	missense_variant	3437/11042	3382/6690	1128/2229	R/W	Cgg/Tgg	rs559310957	1		1	PRRC2B	HGNC	HGNC:28121	protein_coding	YES	CCDS48044.1	ENSP00000349856	Q5JSZ5		UPI00002374A3	NM_013318.3	deleterious(0)	benign(0.028)	15/31			2e-04	8e-04	0		0	0	0										MODERATE	1	SNV	5			1	1.66e-05	1.853e-05	0	9.141e-05	0	0	1.683e-05	0	0		PASS	CCCGACGGAGA	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd		COSM4607178;COSM4607179	True	Unknown	T	3	4	78	131475511	131475511	C	T	1	0	0	0	0	1	0	0	0	12749	527	19	1		1	PRRC2B	9	131475511	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	32933620	131475511	6919206	13	1157											
PTPMT1	114971	BI	GRCh38	chr11	47569720	47569720	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gagtggaagagactaggagtCgagcagctgcggctcagcac	16	9	1	1	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.276C>T	p.=	p.V92V	ENST00000326674	3/4	28	17	11	29			PTPMT1,stop_gained,p.R129*,ENST00000534775,,c.385C>T,HIGH,,,,1;PTPMT1,synonymous_variant,p.V92V,ENST00000326674,NM_175732.2,c.276C>T,LOW,YES,,,1;PTPMT1,intron_variant,,ENST00000426530,NM_001143984.1,c.365-1751C>T,MODIFIER,,,,1;PTPMT1,intron_variant,,ENST00000326656,,c.256-1751C>T,MODIFIER,,,,1;KBTBD4,downstream_gene_variant,,ENST00000533290,,,MODIFIER,,,,-1;KBTBD4,downstream_gene_variant,,ENST00000395288,NM_016506.5,,MODIFIER,,,,-1;KBTBD4,downstream_gene_variant,,ENST00000526005,,,MODIFIER,,,,-1;KBTBD4,downstream_gene_variant,,ENST00000430070,NM_018095.4,,MODIFIER,YES,,,-1;CELF1,upstream_gene_variant,,ENST00000525841,,,MODIFIER,,,,-1;CELF1,upstream_gene_variant,,ENST00000530151,,,MODIFIER,,,,-1;CELF1,upstream_gene_variant,,ENST00000526419,,,MODIFIER,,,,-1;PTPMT1,non_coding_transcript_exon_variant,,ENST00000527079,,n.110C>T,MODIFIER,,,,1;NDUFS3,intron_variant,,ENST00000533507,,n.543-1751C>T,MODIFIER,,,,1	T	ENST00000326674	Transcript	synonymous_variant	synonymous_variant	298/768	276/606	92/201	V	gtC/gtT		1		1	PTPMT1	HGNC	HGNC:26965	protein_coding	YES	CCDS41643.1	ENSP00000325958	Q8WUK0		UPI00000472C6	NM_175732.2			3/4		Pfam_domain:PF00782;SMART_domains:SM00195;Superfamily_domains:SSF52799																	LOW	1	SNV	1			1											PASS	GGAGTCGAGCA	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	T	2	4	78	47569720	47569720	C	T	1	0	0	0	0	0	0	0	1	12931	876	31	2		2	PTPMT1	11	47569720	Silent	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08		47569720	87516902	14	1158											
CD4	920	BI	GRCh38	chr12	6814202	6814202	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttgggaccaaggaaactTtcccctgatcatcaagaatc	7	12	2	2	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.275T>C	p.Phe92Ser	p.F92S	ENST00000011653	4/10	75	38	37	121			CD4,missense_variant,p.F92S,ENST00000011653,NM_000616.4,c.275T>C,MODERATE,YES,deleterious(0),probably_damaging(1),1;CD4,missense_variant,p.F37S,ENST00000541982,,c.110T>C,MODERATE,,deleterious(0),probably_damaging(1),1;CD4,non_coding_transcript_exon_variant,,ENST00000538827,,n.188T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000536610,,n.577T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000536563,,n.112T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000536590,,n.505T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000437800,,n.188T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000544344,,n.188T>C,MODIFIER,,,,1;CD4,non_coding_transcript_exon_variant,,ENST00000543755,,n.149T>C,MODIFIER,,,,1	C	ENST00000011653	Transcript	missense_variant	missense_variant	533/3114	275/1377	92/458	F/S	tTt/tCt		1		1	CD4	HGNC	HGNC:1678	protein_coding	YES	CCDS8562.1	ENSP00000011653	P01730			NM_000616.4	deleterious(0)	probably_damaging(1)	4/10		Pfam_domain:PF00047;Pfam_domain:PF07686;Pfam_domain:PF07679;Pfam_domain:PF11465;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;SMART_domains:SM00406;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	AAACTTTCCCC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	6814202	6814202	T	C	1	0	0	0	0	1	0	0	0	2718	1841	64	4		4	CD4	12	6814202	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		6814202	126461107	15	1159											
KRT79	338785	BI	GRCh38	chr12	52823103	52823103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtagtcaCgcagcagccgtgtcaggtcc	11	14	4	0	rs775879705	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1280G>A	p.Arg427His	p.R427H	ENST00000330553	7/9	35	18	17	104			KRT79,missense_variant,p.R427H,ENST00000330553,NM_175834.2,c.1280G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.807),-1;KRT79,missense_variant,p.R13H,ENST00000549255,,c.38G>A,MODERATE,,deleterious(0),benign(0.071),-1;AC107016.2,upstream_gene_variant,,ENST00000631286,,,MODIFIER,YES,,,1;KRT79,non_coding_transcript_exon_variant,,ENST00000546453,,n.752G>A,MODIFIER,,,,-1	T	ENST00000330553	Transcript	missense_variant	missense_variant	1315/2068	1280/1608	427/535	R/H	cGt/cAt	rs775879705	1		-1	KRT79	HGNC	HGNC:28930	protein_coding	YES	CCDS8839.1	ENSP00000328358	Q5XKE5		UPI0000198204	NM_175834.2	deleterious(0.01)	possibly_damaging(0.807)	7/9		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00038;Superfamily_domains:SSF140453																	MODERATE	1	SNV	1			1	4.942e-05	4.942e-05	0	0	0.0001156	0	1.498e-05	0	0.0002422		PASS	AGTCACGCAGC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd		COSM1362606	True	Unknown	T	3	4	78	52823103	52823103	C	T	1	0	0	0	0	1	0	0	0	8374	536	19	1		1	KRT79	12	52823103	Missense_Mutation	SNP	C	TCGA-YZ-A983-01A-11D-A39W-08	46008901	52823103	80452206	16	1160											
PROSER1	80209	BI	GRCh38	chr13	39013381	39013381	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgagagggattcccagaaTgagatggacctttgaaggcc	13	8	0	4	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1871A>G	p.His624Arg	p.H624R	ENST00000352251	11/13	111	64	47	126			PROSER1,missense_variant,p.H624R,ENST00000352251,NM_025138.4,c.1871A>G,MODERATE,YES,tolerated(0.88),benign(0.329),-1;PROSER1,missense_variant,p.H602R,ENST00000625998,,c.1805A>G,MODERATE,,tolerated(0.78),benign(0.244),-1;PROSER1,intron_variant,,ENST00000484434,,n.709-1192A>G,MODIFIER,,,,-1;PROSER1,upstream_gene_variant,,ENST00000468017,,,MODIFIER,,,,-1;PROSER1,downstream_gene_variant,,ENST00000602899,,,MODIFIER,,,,-1;PROSER1,downstream_gene_variant,,ENST00000602512,,,MODIFIER,,,,-1;PROSER1,upstream_gene_variant,,ENST00000492646,,,MODIFIER,,,,-1	C	ENST00000352251	Transcript	missense_variant	missense_variant	2705/5168	1871/2835	624/944	H/R	cAt/cGt		1		-1	PROSER1	HGNC	HGNC:20291	protein_coding	YES	CCDS9368.2	ENSP00000332034	Q86XN7		UPI00001FCC65	NM_025138.4	tolerated(0.88)	benign(0.329)	11/13		PROSITE_profiles:PS50324																	MODERATE	1	SNV	1			1											PASS	CAGAATGAGAT	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	39013381	39013381	T	C	1	0	0	0	0	1	0	0	0	12693	1464	51	4		4	PROSER1	13	39013381	Missense_Mutation	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		39013381	75350947	17	1161											
PCK2	5106	BI	GRCh38	chr14	24100054	24100054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcccctggtacctctGccaccaccaatcccaacgcc	8	19	1	0	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1075G>A	p.Ala359Thr	p.A359T	ENST00000216780	7/10	70	35	35	112			PCK2,missense_variant,p.A225T,ENST00000545054,,c.673G>A,MODERATE,,tolerated(0.47),benign(0.008),1;PCK2,missense_variant,p.A225T,ENST00000558096,,c.673G>A,MODERATE,,tolerated(0.45),benign(0.008),1;PCK2,missense_variant,p.A359T,ENST00000216780,NM_004563.2,c.1075G>A,MODERATE,YES,tolerated(0.46),benign(0.009),1;PCK2,missense_variant,p.A225T,ENST00000561286,NM_001291556.1,c.673G>A,MODERATE,,tolerated(0.47),benign(0.008),1;PCK2,missense_variant,p.A359T,ENST00000396973,NM_001018073.1,c.1075G>A,MODERATE,,tolerated(0.47),benign(0.011),1;PCK2,missense_variant,p.A371T,ENST00000559250,,c.1111G>A,MODERATE,,tolerated(0.43),benign(0.006),1;NRL,intron_variant,,ENST00000561028,,c.-28+14668C>T,MODIFIER,YES,,,-1;NRL,intron_variant,,ENST00000558280,,c.-254+14668C>T,MODIFIER,,,,-1;NRL,upstream_gene_variant,,ENST00000396997,,,MODIFIER,,,,-1;PCK2,downstream_gene_variant,,ENST00000560736,,,MODIFIER,,,,1;PCK2,downstream_gene_variant,,ENST00000559837,,,MODIFIER,,,,1;PCK2,upstream_gene_variant,,ENST00000559171,,,MODIFIER,,,,1;PCK2,downstream_gene_variant,,ENST00000560657,,,MODIFIER,,,,1;PCK2,3_prime_UTR_variant,,ENST00000559503,,c.*222G>A,MODIFIER,,,,1;PCK2,non_coding_transcript_exon_variant,,ENST00000558674,,n.1940G>A,MODIFIER,,,,1;PCK2,non_coding_transcript_exon_variant,,ENST00000561050,,n.1667G>A,MODIFIER,,,,1;PCK2,downstream_gene_variant,,ENST00000560106,,,MODIFIER,,,,1;PCK2,downstream_gene_variant,,ENST00000559584,,,MODIFIER,,,,1;PCK2,upstream_gene_variant,,ENST00000557969,,,MODIFIER,,,,1	A	ENST00000216780	Transcript	missense_variant	missense_variant	1343/2357	1075/1923	359/640	A/T	Gcc/Acc		1		1	PCK2	HGNC	HGNC:8725	protein_coding	YES	CCDS9609.1	ENSP00000216780	Q16822			NM_004563.2	tolerated(0.46)	benign(0.009)	7/10		Pfam_domain:PF00821;Superfamily_domains:SSF53795;PIRSF_domain:PIRSF001348																	MODERATE	1	SNV	1			1											PASS	CCTCTGCCACC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	A	3	1	78	24100054	24100054	G	A	1	0	0	0	0	1	0	0	0	11670	1319	46	3		3	PCK2	14	24100054	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		24100054	82943664	18	1162											
FES	2242	BI	GRCh38	chr15	90889867	90889867	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacagatgagctggcTgtggccaccgagatggtgtt	15	8	1	4	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.954T>G	p.=	p.A318A	ENST00000328850	8/19	80	70	10	142			FES,synonymous_variant,p.A318A,ENST00000328850,NM_002005.3,c.954T>G,LOW,YES,,,1;FES,synonymous_variant,p.A260A,ENST00000414248,NM_001143785.1,c.780T>G,LOW,,,,1;FES,synonymous_variant,p.A260A,ENST00000394300,NM_001143783.1,c.780T>G,LOW,,,,1;FES,synonymous_variant,p.A318A,ENST00000444422,NM_001143784.1,c.954T>G,LOW,,,,1;FES,synonymous_variant,p.A260A,ENST00000394302,,c.780T>G,LOW,,,,1;FES,downstream_gene_variant,,ENST00000559355,,,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000452243,,,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000443697,,,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000416779,,,MODIFIER,,,,1;FES,non_coding_transcript_exon_variant,,ENST00000448367,,n.115T>G,MODIFIER,,,,1;FES,synonymous_variant,p.A318A,ENST00000464684,,c.954T>G,LOW,,,,1;FES,non_coding_transcript_exon_variant,,ENST00000496379,,n.28T>G,MODIFIER,,,,1;FES,non_coding_transcript_exon_variant,,ENST00000494259,,n.459T>G,MODIFIER,,,,1;FES,non_coding_transcript_exon_variant,,ENST00000462476,,n.19T>G,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000470152,,,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000481665,,,MODIFIER,,,,1;FES,downstream_gene_variant,,ENST00000497945,,,MODIFIER,,,,1	G	ENST00000328850	Transcript	synonymous_variant	synonymous_variant	1096/2829	954/2469	318/822	A	gcT/gcG		1		1	FES	HGNC	HGNC:3657	protein_coding	YES	CCDS10365.1	ENSP00000331504	P07332	A0A024RC92	UPI0000001C30	NM_002005.3			8/19		PIRSF_domain:PIRSF000632																	LOW	1	SNV	1			1											PASS	CTGGCTGTGGC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	G	2	3	78	90889867	90889867	T	G	1	0	0	0	0	0	0	0	1	5683	1567	55	5		5	FES	15	90889867	Silent	SNP	T	TCGA-YZ-A983-01A-11D-A39W-08		90889867	11101322	19	1163											
TBX6	6911	BI	GRCh38	chr16	30088613	30088613	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgcaatcttcagttgtgtGatctggggacacacatgcag	12	9	3	1	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.771C>G	p.Ile257Met	p.I257M	ENST00000279386	5/8	100	53	47	148			TBX6,missense_variant,p.I257M,ENST00000553607,,c.771C>G,MODERATE,,deleterious(0),probably_damaging(0.998),-1;TBX6,missense_variant,p.I257M,ENST00000395224,NM_004608.3,c.771C>G,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;TBX6,missense_variant,p.I257M,ENST00000279386,,c.771C>G,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TBX6,intron_variant,,ENST00000627355,,c.808+37C>G,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000398841,NM_031477.4,,MODIFIER,YES,,,-1;PPP4C,downstream_gene_variant,,ENST00000279387,NM_002720.1&NM_001303503.1,,MODIFIER,YES,,,1;PPP4C,downstream_gene_variant,,ENST00000561610,,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000627746,NM_001303507.1,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000562664,,,MODIFIER,,,,1;YPEL3,downstream_gene_variant,,ENST00000398838,NM_001145524.1,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000566595,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000566134,,,MODIFIER,,,,-1;PPP4C,downstream_gene_variant,,ENST00000562222,,,MODIFIER,,,,1;YPEL3,downstream_gene_variant,,ENST00000563788,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000565110,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000565479,,,MODIFIER,,,,-1;YPEL3,downstream_gene_variant,,ENST00000568674,,,MODIFIER,,,,-1;TBX6,missense_variant,p.I257M,ENST00000567664,,c.771C>G,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PPP4C,downstream_gene_variant,,ENST00000566749,,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000563200,,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000567040,,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000563732,,,MODIFIER,,,,1;PPP4C,downstream_gene_variant,,ENST00000563597,,,MODIFIER,,,,1;YPEL3,downstream_gene_variant,,ENST00000570099,,,MODIFIER,,,,-1	C	ENST00000279386	Transcript	missense_variant	missense_variant;splice_region_variant	827/1796	771/1311	257/436	I/M	atC/atG		1		-1	TBX6	HGNC	HGNC:11605	protein_coding		CCDS10670.1	ENSP00000279386	O95947		UPI000013DBC7		deleterious(0)	probably_damaging(0.999)	5/8		Pfam_domain:PF00907;Prints_domain:PR00937;PROSITE_profiles:PS50252;SMART_domains:SM00425;Superfamily_domains:SSF49417																	MODERATE		SNV	1			1											PASS	TGTGTGATCTG	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	30088613	30088613	G	C	1	0	0	0	0	1	0	0	0	16066	1304	45	5		5	TBX6	16	30088613	Missense_Mutation	SNP	G	TCGA-YZ-A983-01A-11D-A39W-08		30088613	60249732	20	1164											
MPP3	4356	BI	GRCh38	chr17	43801786	43801786	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgtaggcaccctggAgatcctccttcaccagcacg	11	15	1	1	novel		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08									Somatic						Illumina HiSeq 2000	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	c.1673T>G	p.Leu558Arg	p.L558R	ENST00000398389	20/20	93	55	38	102			MPP3,missense_variant,p.L583R,ENST00000398393,,c.1748T>G,MODERATE,,deleterious(0),probably_damaging(0.997),-1;MPP3,missense_variant,p.L558R,ENST00000398389,NM_001932.4,c.1673T>G,MODERATE,YES,deleterious(0),possibly_damaging(0.873),-1;MPP3,3_prime_UTR_variant,,ENST00000496503,,c.*704T>G,MODIFIER,,,,-1	C	ENST00000398389	Transcript	missense_variant	missense_variant	1839/2182	1673/1758	558/585	L/R	cTc/cGc		1		-1	MPP3	HGNC	HGNC:7221	protein_coding	YES	CCDS42344.1	ENSP00000381425	Q13368		UPI0000167B23	NM_001932.4	deleterious(0)	possibly_damaging(0.873)	20/20		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00625;SMART_domains:SM00072;PROSITE_profiles:PS50052;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	CCTGGAGATCC	fc16e990-d443-4b31-8242-77a39c4dd9ba	4d6c7148-8362-4068-a43d-f56874fc2c23	6aed4a8e-9b5e-4d35-a31e-ac83266ac9c2	df291bbf-fc62-4c40-9582-289ac78225fd			True	Unknown	C	3	2	78	43801786	43801786	A	C	1	0	0	0	0	1	0	0	0	9701	304	11	5		5	MPP3	17	43801786	Missense_Mutation	SNP	A	TCGA-YZ-A983-01A-11D-A39W-08		43801786	39455655	21	1165											
PRDM2	7799	BI	GRCh38	chr1	13779968	13779968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtctgctcctgcatcaAtgttgcctgtgacctcaagt	10	11	3	1	rs139578720	by1000G;byCluster;byFrequency	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.2173A>G	p.Met725Val	p.M725V	ENST00000235372	8/10	92	40	52	104			PRDM2,missense_variant,p.M725V,ENST00000235372,NM_012231.4,c.2173A>G,MODERATE,YES,,benign(0.014),1;PRDM2,missense_variant,p.M725V,ENST00000311066,NM_015866.4,c.2173A>G,MODERATE,,,benign(0.039),1;PRDM2,missense_variant,p.M524V,ENST00000413440,NM_001007257.2,c.1570A>G,MODERATE,,,unknown(0),1;PRDM2,missense_variant,p.M524V,ENST00000343137,,c.1570A>G,MODERATE,,,unknown(0),1;PRDM2,intron_variant,,ENST00000376048,NM_001135610.1,c.511+30481A>G,MODIFIER,,,,1;PRDM2,intron_variant,,ENST00000503842,,c.19+6780A>G,MODIFIER,,,,1;PRDM2,intron_variant,,ENST00000505823,,c.19+6780A>G,MODIFIER,,,,1;PRDM2,downstream_gene_variant,,ENST00000487453,,,MODIFIER,,,,1;PRDM2,downstream_gene_variant,,ENST00000407521,,,MODIFIER,,,,1;PRDM2,intron_variant,,ENST00000491134,,c.*413-6547A>G,MODIFIER,,,,1	G	ENST00000235372	Transcript	missense_variant	missense_variant	3029/7957	2173/5157	725/1718	M/V	Atg/Gtg	rs139578720	1		1	PRDM2	HGNC	HGNC:9347	protein_coding	YES	CCDS150.1	ENSP00000235372	Q13029		UPI000013C9CD	NM_012231.4		benign(0.014)	8/10		PIRSF_domain:PIRSF002395	6e-04	8e-04	0		0.002	0	0	7e-04	1e-04								MODERATE	1	SNV	1			1	0.0001647	0.0001647	0.0007688	0	0.0005778	0	8.99e-05	0	6.056e-05		panel_of_normals	CATCAATGTTG	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0	common_in_exac;gdc_pon		True	Unknown	G	3	3	79	13779968	13779968	A	G	1	0	0	0	0	1	0	0	0	12589	101	4	4		4	PRDM2	1	13779968	Missense_Mutation	SNP	A	TCGA-YZ-A984-01A-11D-A39W-08		13779968	235176454	1	1166											
CHML	1122	BI	GRCh38	chr1	241634661	241634661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagggggtgttgccaaacCgtccgagacactgaaggaag	14	8	0	2	rs200203736	byCluster	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.1106G>A	p.Arg369Gln	p.R369Q	ENST00000366553	1/1	55	40	15	66			CHML,missense_variant,p.R369Q,ENST00000366553,NM_001821.3,c.1106G>A,MODERATE,YES,deleterious(0.01),benign(0.228),-1;OPN3,intron_variant,,ENST00000366554,NM_014322.2,c.373+5221G>A,MODIFIER,YES,,,-1;OPN3,intron_variant,,ENST00000469376,,n.459+5221G>A,MODIFIER,,,,-1;OPN3,intron_variant,,ENST00000490673,,n.474+5221G>A,MODIFIER,,,,-1;OPN3,intron_variant,,ENST00000478849,,n.329+5221G>A,MODIFIER,,,,-1;OPN3,intron_variant,,ENST00000463155,,n.75-36664G>A,MODIFIER,,,,-1	T	ENST00000366553	Transcript	missense_variant	missense_variant	1270/7078	1106/1971	369/656	R/Q	cGg/cAg	rs200203736	1		-1	CHML	HGNC	HGNC:1941	protein_coding	YES	CCDS31073.1	ENSP00000355511	P26374		UPI0000073C74	NM_001821.3	deleterious(0.01)	benign(0.228)	1/1		Pfam_domain:PF00996;Prints_domain:PR00893;Prints_domain:PR00891;Superfamily_domains:SSF51905;PIRSF_domain:PIRSF016550								2e-04	0								MODERATE		SNV				1	1.647e-05	1.65e-05	9.69e-05	0	0	0	1.499e-05	0	0		PASS	CAAACCGTCCG	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	T	3	4	79	241634661	241634661	C	T	1	0	0	0	0	1	0	0	0	3110	652	23	2		2	CHML	1	241634661	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	227854693	241634661	7321761	2	1167											
BAP1	8314	BI	GRCh38	chr3	52403883	52403883	+	Frame_Shift_Del	DEL	T	T	-													cccctggcttccctgttcccTtccccttatacctgtggggc					novel		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.1262delA	p.Lys421ArgfsTer9	p.K421Rfs*9	ENST00000460680	13/17	46	10	36	77			BAP1,frameshift_variant,p.K421Rfs*9,ENST00000460680,NM_004656.3,c.1262delA,HIGH,YES,,,-1;BAP1,frameshift_variant,p.K403Rfs*9,ENST00000296288,,c.1208delA,HIGH,,,,-1;BAP1,frameshift_variant,p.K13Rfs*9,ENST00000469613,,c.37delA,HIGH,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,upstream_gene_variant,,ENST00000478368,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000490804,,n.690delA,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,upstream_gene_variant,,ENST00000466093,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	1734/3937	1262/2190	421/729	K/X	aAg/ag		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			13/17																			HIGH	1	deletion	1			1											PASS	GTTCCCTTCCCC	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	-	7	5	79	52403883	52403883	T	-	1	0	1	0	1	0	0	0	0	1463	1609	56	0		0	BAP1	3	52403883	Frame_Shift_Del	DEL	T	TCGA-YZ-A984-01A-11D-A39W-08		52403883	145891676	3	1168											
TMEM44	93109	BI	GRCh38	chr3	194625907	194625907	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacactcacctgaattagaCttgaatttggatccacagac	6	11	1	4	novel		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.348G>A	p.=	p.K116K	ENST00000392432	3/11	70	12	58	111			TMEM44,synonymous_variant,p.K116K,ENST00000392432,NM_001166305.1,c.348G>A,LOW,YES,,,-1;TMEM44,synonymous_variant,p.K116K,ENST00000347147,NM_001011655.2,c.348G>A,LOW,,,,-1;TMEM44,synonymous_variant,p.K116K,ENST00000381975,NM_001166306.1,c.348G>A,LOW,,,,-1;TMEM44,synonymous_variant,p.K116K,ENST00000473092,NM_138399.4,c.348G>A,LOW,,,,-1;TMEM44,synonymous_variant,p.K13K,ENST00000330115,,c.39G>A,LOW,,,,-1;TMEM44,synonymous_variant,p.K15K,ENST00000452358,,c.45G>A,LOW,,,,-1;TMEM44,intron_variant,,ENST00000494894,,n.211-2212G>A,MODIFIER,,,,-1;TMEM44,missense_variant,p.S95N,ENST00000430601,,c.284G>A,MODERATE,,,unknown(0),-1;TMEM44,synonymous_variant,p.K13K,ENST00000419280,,c.39G>A,LOW,,,,-1	T	ENST00000392432	Transcript	synonymous_variant	synonymous_variant	554/2490	348/1428	116/475	K	aaG/aaA		1		-1	TMEM44	HGNC	HGNC:25120	protein_coding	YES	CCDS54699.1	ENSP00000376227	Q2T9K0		UPI00015E0940	NM_001166305.1			3/11																			LOW	1	SNV	1			1											PASS	TTAGACTTGAA	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	T	2	4	79	194625907	194625907	C	T	1	0	0	0	0	0	0	0	1	16645	564	20	3		3	TMEM44	3	194625907	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08	142222024	194625907	3669652	4	1169											
SPARCL1	8404	BI	GRCh38	chr4	87493807	87493807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaactccatgatttctgggCgtggtattaccatcatcagt	8	10	4	1	rs145736129	by1000G;byCluster	TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.993G>A	p.=	p.T331T	ENST00000282470	4/11	123	53	70	139			SPARCL1,synonymous_variant,p.T331T,ENST00000418378,NM_001128310.1,c.993G>A,LOW,YES,,,-1;SPARCL1,synonymous_variant,p.T331T,ENST00000282470,NM_004684.4,c.993G>A,LOW,,,,-1;SPARCL1,synonymous_variant,p.T206T,ENST00000503414,,c.618G>A,LOW,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000434434,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000541496,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000512317,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000543631,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000509407,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000458304,,,MODIFIER,,,,-1;SPARCL1,downstream_gene_variant,,ENST00000535835,,,MODIFIER,,,,-1	T	ENST00000282470	Transcript	synonymous_variant	synonymous_variant	1464/2906	993/1995	331/664	T	acG/acA	rs145736129	1		-1	SPARCL1	HGNC	HGNC:11220	protein_coding		CCDS3622.1	ENSP00000282470	Q14515	A0A024RDE1	UPI000013DCE3	NM_004684.4			4/11		PIRSF_domain:PIRSF002574	2e-04	0	0		0.001	0	0	0	3e-04								LOW		SNV	1			1	9.06e-05	9.062e-05	0	0	0.0001156	0	0.0001499	0	0		panel_of_normals	CTGGGCGTGGT	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0	gdc_pon		True	Unknown	T	2	4	79	87493807	87493807	C	T	1	0	0	0	0	0	0	0	1	15327	755	27	2		2	SPARCL1	4	87493807	Silent	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		87493807	102720748	5	1170											
CDC40	51362	BI	GRCh38	chr6	110219790	110219790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgatcggcatttgggagctGtcaacaccattgtttttgtg	11	7	1	1	novel		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.1261G>A	p.Val421Ile	p.V421I	ENST00000307731	12/15	124	96	28	106			CDC40,missense_variant,p.V421I,ENST00000368932,,c.1261G>A,MODERATE,YES,tolerated(0.08),possibly_damaging(0.856),1;CDC40,missense_variant,p.V421I,ENST00000307731,NM_015891.2,c.1261G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.856),1;CDC40,missense_variant,p.V421I,ENST00000368930,,c.1261G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.67),1;CDC40,upstream_gene_variant,,ENST00000445340,,,MODIFIER,,,,1;CDC40,non_coding_transcript_exon_variant,,ENST00000606893,,n.2691G>A,MODIFIER,,,,1	A	ENST00000307731	Transcript	missense_variant	missense_variant	1285/3848	1261/1740	421/579	V/I	Gtc/Atc		1		1	CDC40	HGNC	HGNC:17350	protein_coding		CCDS5081.1	ENSP00000304370	O60508		UPI0000132145	NM_015891.2	tolerated(0.08)	possibly_damaging(0.856)	12/15		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE		SNV	1			1											PASS	GAGCTGTCAAC	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	A	3	1	79	110219790	110219790	G	A	1	0	0	0	0	1	0	0	0	2773	1377	48	3		3	CDC40	6	110219790	Missense_Mutation	SNP	G	TCGA-YZ-A984-01A-11D-A39W-08		110219790	60586189	6	1171											
HERC2	8924	BI	GRCh38	chr15	28196492	28196492	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgaatactgggtaccaactCcatttctgatagcaacccag	7	11	1	2	novel		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.8089G>T	p.Glu2697Ter	p.E2697*	ENST00000261609	51/93	126	58	68	117			HERC2,stop_gained,p.E2697*,ENST00000261609,NM_004667.5,c.8089G>T,HIGH,YES,,,-1;HERC2,non_coding_transcript_exon_variant,,ENST00000567869,,n.2199G>T,MODIFIER,,,,-1	A	ENST00000261609	Transcript	stop_gained	stop_gained	8198/15337	8089/14505	2697/4834	E/*	Gag/Tag		1		-1	HERC2	HGNC	HGNC:4868	protein_coding	YES	CCDS10021.1	ENSP00000261609	O95714			NM_004667.5			51/93																			HIGH	1	SNV	1			1											PASS	CAACTCCATTT	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	A	4	1	79	28196492	28196492	C	A	1	0	0	0	0	0	1	0	0	6942	864	30	5		5	HERC2	15	28196492	Nonsense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		28196492	73794697	7	1172											
SIGLEC1	6614	BI	GRCh38	chr20	3693630	3693630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgggtgagtggtccacaCaaggcaggtcaggttcacca	15	11	2	1	novel		TCGA-YZ-A984-01A-11D-A39W-08	TCGA-YZ-A984-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	b5de40e2-d2f6-4027-a8ad-f910915e22e7	5111a54d-a424-4c60-b712-670f14bb3450	c.3325G>A	p.Val1109Met	p.V1109M	ENST00000344754	13/21	25	13	12	26			SIGLEC1,missense_variant,p.V1109M,ENST00000344754,NM_023068.3,c.3325G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;SIGLEC1,upstream_gene_variant,,ENST00000419548,,,MODIFIER,,,,-1	T	ENST00000344754	Transcript	missense_variant	missense_variant	3325/6720	3325/5130	1109/1709	V/M	Gtg/Atg		1		-1	SIGLEC1	HGNC	HGNC:11127	protein_coding	YES	CCDS13060.1	ENSP00000341141	Q9BZZ2		UPI0000049BA6	NM_023068.3	deleterious(0)	probably_damaging(0.996)	13/21		Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	CCACACAAGGC	6cdf6096-c0d9-4bf4-9928-5d86fd0fa8d0	06723dbf-d641-487a-aa5f-dd2be8e9b285	21920654-5e78-4ecb-981e-821df69f66e9	743fc661-9ba2-4fa8-966e-508fb4b965e0			True	Unknown	T	3	4	79	3693630	3693630	C	T	1	0	0	0	0	1	0	0	0	14569	478	17	3		3	SIGLEC1	20	3693630	Missense_Mutation	SNP	C	TCGA-YZ-A984-01A-11D-A39W-08		3693630	60750537	8	1173											
AGRN	375790	BI	GRCh38	chr1	1042015	1042015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccgccgtggccgtcccCgctgctcctgcgaccgcgtc	12	20	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1237C>T	p.Arg413Cys	p.R413C	ENST00000379370	7/36	49	35	14	52			AGRN,missense_variant,p.R275C,ENST00000620552,NM_001305275.1,c.823C>T,MODERATE,,deleterious(0.01),probably_damaging(0.988),1;AGRN,missense_variant,p.R413C,ENST00000379370,NM_198576.3,c.1237C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.689),1;AGRN,downstream_gene_variant,,ENST00000477585,,,MODIFIER,,,,1;AGRN,downstream_gene_variant,,ENST00000469403,,,MODIFIER,,,,1;AGRN,upstream_gene_variant,,ENST00000479707,,,MODIFIER,,,,1	T	ENST00000379370	Transcript	missense_variant	missense_variant	1287/7323	1237/6138	413/2045	R/C	Cgc/Tgc		1		1	AGRN	HGNC	HGNC:329	protein_coding	YES	CCDS30551.1	ENSP00000368678	O00468			NM_198576.3	deleterious(0.01)	possibly_damaging(0.689)	7/36		PROSITE_profiles:PS50311;Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1											PASS	GTCCCCGCTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	1042015	1042015	C	T	1	0	0	0	0	1	0	0	0	476	652	23	2		2	AGRN	1	1042015	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1042015	247914407	1	1174											
UBE2J2	118424	BI	GRCh38	chr1	1255391	1255391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaatcccgttctggaCgaggtgcgtctccccgtctg	12	14	3	1	rs146586696	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.592G>A	p.Val198Ile	p.V198I	ENST00000349431	7/7	88	76	12	87			UBE2J2,missense_variant,p.V146I,ENST00000347370,NM_194458.1,c.436G>A,MODERATE,,tolerated(0.36),benign(0.009),-1;UBE2J2,missense_variant,p.V198I,ENST00000349431,NM_058167.2,c.592G>A,MODERATE,,tolerated(0.21),benign(0.009),-1;UBE2J2,missense_variant,p.V146I,ENST00000400929,NM_194457.1,c.436G>A,MODERATE,,tolerated(0.36),benign(0.009),-1;UBE2J2,missense_variant,p.V198I,ENST00000360466,,c.592G>A,MODERATE,,tolerated(0.21),benign(0.009),-1;UBE2J2,missense_variant,p.V214I,ENST00000400930,NM_194315.1,c.640G>A,MODERATE,YES,tolerated(0.21),benign(0.018),-1;UBE2J2,downstream_gene_variant,,ENST00000435198,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000422076,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000502382,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000509720,,,MODIFIER,,,,-1;RP5-902P8.12,upstream_gene_variant,,ENST00000565563,,,MODIFIER,YES,,,-1;UBE2J2,non_coding_transcript_exon_variant,,ENST00000467339,,n.388G>A,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000491779,,,MODIFIER,,,,-1;UBE2J2,3_prime_UTR_variant,,ENST00000450390,,c.*653G>A,MODIFIER,,,,-1;UBE2J2,3_prime_UTR_variant,,ENST00000464036,,c.*396G>A,MODIFIER,,,,-1;UBE2J2,3_prime_UTR_variant,,ENST00000473215,,c.*586G>A,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000466752,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000503294,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000477894,,,MODIFIER,,,,-1;UBE2J2,downstream_gene_variant,,ENST00000471154,,,MODIFIER,,,,-1	T	ENST00000349431	Transcript	missense_variant	missense_variant	812/1733	592/780	198/259	V/I	Gtc/Atc	rs146586696	1		-1	UBE2J2	HGNC	HGNC:19268	protein_coding		CCDS14.1	ENSP00000305826	Q8N2K1	A0A024R075	UPI0000149EE7	NM_058167.2	tolerated(0.21)	benign(0.009)	7/7										2e-04	0								MODERATE		SNV	1			1	8.237e-06	8.277e-06	0	8.651e-05	0	0	0	0	0		PASS	CTGGACGAGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	1255391	1255391	C	T	1	0	0	0	0	1	0	0	0	17382	536	19	1		1	UBE2J2	1	1255391	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	213376	1255391	247701031	2	1175											
GABRD	2563	BI	GRCh38	chr1	2030070	2030070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccgccggcagcgccgcGtcccggggaacctgatgggc	15	17	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1147G>A	p.Val383Ile	p.V383I	ENST00000378585	9/9	27	20	7	46			GABRD,missense_variant,p.V383I,ENST00000378585,NM_000815.4,c.1147G>A,MODERATE,YES,tolerated(0.81),benign(0.004),1	A	ENST00000378585	Transcript	missense_variant	missense_variant	1247/1928	1147/1359	383/452	V/I	Gtc/Atc		1		1	GABRD	HGNC	HGNC:4084	protein_coding	YES	CCDS36.1	ENSP00000367848	O14764		UPI0000070D0A	NM_000815.4	tolerated(0.81)	benign(0.004)	9/9		Pfam_domain:PF02932;Prints_domain:PR01722;Superfamily_domains:SSF90112																	MODERATE	1	SNV	1			1											PASS	GCCGCGTCCCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	2030070	2030070	G	A	1	0	0	0	0	1	0	0	0	6040	1145	40	1		1	GABRD	1	2030070	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	774679	2030070	246926352	3	1176											
PANK4	55229	BI	GRCh38	chr1	2514411	2514411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttctgccggaacttctccGccctctcggctgcatccaca	7	18	3	0	rs753091403	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1430C>T	p.Ala477Val	p.A477V	ENST00000378466	11/19	60	41	19	81			PANK4,missense_variant,p.A477V,ENST00000378466,NM_018216.1,c.1430C>T,MODERATE,YES,deleterious(0.03),probably_damaging(0.998),-1;PANK4,missense_variant,p.A438V,ENST00000435556,,c.1313C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.886),-1;PANK4,missense_variant,p.A335V,ENST00000505228,,c.1003C>T,MODERATE,,deleterious(0.03),possibly_damaging(0.758),-1;PANK4,downstream_gene_variant,,ENST00000486396,,,MODIFIER,,,,-1;PANK4,upstream_gene_variant,,ENST00000471361,,,MODIFIER,,,,-1;PANK4,upstream_gene_variant,,ENST00000487804,,,MODIFIER,,,,-1;PANK4,upstream_gene_variant,,ENST00000502512,,,MODIFIER,,,,-1;PANK4,downstream_gene_variant,,ENST00000468002,,,MODIFIER,,,,-1;PANK4,downstream_gene_variant,,ENST00000515423,,,MODIFIER,,,,-1	A	ENST00000378466	Transcript	missense_variant	missense_variant	1443/2649	1430/2322	477/773	A/V	gCg/gTg	rs753091403	1		-1	PANK4	HGNC	HGNC:19366	protein_coding	YES	CCDS42.1	ENSP00000367727	Q9NVE7		UPI000000DA54	NM_018216.1	deleterious(0.03)	probably_damaging(0.998)	11/19		Superfamily_domains:SSF111321;PIRSF_domain:PIRSF036939																	MODERATE	1	SNV	1			1	2.475e-05	2.506e-05	0	0	0	0	1.53e-05	0	0.0001212		PASS	TCTCCGCCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2051264	True	Unknown	A	3	1	80	2514411	2514411	G	A	1	0	0	0	0	1	0	0	0	11500	1087	38	2		2	PANK4	1	2514411	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	484341	2514411	246442011	4	1177											
CAMTA1	23261	BI	GRCh38	chr1	7670940	7670940	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtcctcatcacaggcccGtggcaagaagccagcaataa	10	12	2	1	rs776020744	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2682G>A	p.=	p.P894P	ENST00000303635	10/23	77	36	41	89			CAMTA1,synonymous_variant,p.P894P,ENST00000303635,NM_015215.3,c.2682G>A,LOW,YES,,,1	A	ENST00000303635	Transcript	synonymous_variant	synonymous_variant	2889/8444	2682/5022	894/1673	P	ccG/ccA	rs776020744	1		1	CAMTA1	HGNC	HGNC:18806	protein_coding	YES	CCDS30576.1	ENSP00000306522	Q9Y6Y1		UPI00001C1D72	NM_015215.3			10/23		Pfam_domain:PF01833;Superfamily_domains:SSF81296																	LOW	1	SNV	1			1	1.647e-05	1.654e-05	0	0	0.0001157	0	1.507e-05	0	0		PASS	GGCCCGTGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	7670940	7670940	G	A	1	0	0	0	0	0	0	0	1	2306	1132	40	1		1	CAMTA1	1	7670940	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5156529	7670940	241285482	5	1178											
DHRS3	9249	BI	GRCh38	chr1	12617167	12617167	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggtacctttctggcgccgCgctccgcgaactcgcgggcg	14	16	1	0	rs765594786		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.182G>A	p.Arg61His	p.R61H	ENST00000616661	1/6	21	15	6	31			DHRS3,missense_variant,p.R61H,ENST00000616661,NM_004753.5,c.182G>A,MODERATE,YES,tolerated(0.46),benign(0.005),-1;DHRS3,upstream_gene_variant,,ENST00000464917,,,MODIFIER,,,,-1;RP11-474O21.5,downstream_gene_variant,,ENST00000606790,,,MODIFIER,YES,,,-1;DHRS3,upstream_gene_variant,,ENST00000482265,,,MODIFIER,,,,-1	T	ENST00000616661	Transcript	missense_variant	missense_variant	565/1722	182/909	61/302	R/H	cGc/cAc	rs765594786	1		-1	DHRS3	HGNC	HGNC:17693	protein_coding	YES	CCDS146.1	ENSP00000480439	O75911		UPI000006EE74	NM_004753.5	tolerated(0.46)	benign(0.005)	1/6		Pfam_domain:PF00106;Pfam_domain:PF08659;Pfam_domain:PF02719;SMART_domains:SM00822;Superfamily_domains:SSF51735																	MODERATE	1	SNV	1			1	8.278e-06	9.015e-06	0	0	0	0	1.662e-05	0	0		PASS	CGCCGCGCTCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM458657	True	Unknown	T	3	4	80	12617167	12617167	C	T	1	0	0	0	0	1	0	0	0	4296	768	27	2		2	DHRS3	1	12617167	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4946227	12617167	236339255	6	1179											
TAS1R2	80834	BI	GRCh38	chr1	18854585	18854585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggcgatccacacggcGccagtgaagttctggcgcag	15	12	1	1	rs148401055	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.885C>T	p.=	p.G295G	ENST00000375371	3/6	17	9	8	26			TAS1R2,synonymous_variant,p.G295G,ENST00000375371,NM_152232.2,c.885C>T,LOW,YES,,,-1;RP13-279N23.2,3_prime_UTR_variant,,ENST00000494072,,c.*2830C>T,MODIFIER,YES,,,-1	A	ENST00000375371	Transcript	synonymous_variant	synonymous_variant	907/2542	885/2520	295/839	G	ggC/ggT	rs148401055	1		-1	TAS1R2	HGNC	HGNC:14905	protein_coding	YES	CCDS187.1	ENSP00000364520	Q8TE23		UPI0000456168	NM_152232.2			3/6		Pfam_domain:PF01094;Superfamily_domains:SSF53822								0	1e-04								LOW	1	SNV	2			1	2.471e-05	2.482e-05	0	8.669e-05	0	0	3.008e-05	0	0		PASS	ACGGCGCCAGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM164794	True	Unknown	A	2	1	80	18854585	18854585	G	A	1	0	0	0	0	0	0	0	1	15962	1074	38	2		2	TAS1R2	1	18854585	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6237418	18854585	230101837	7	1180											
EMC1	23065	BI	GRCh38	chr1	19231417	19231417	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatacagagaactcattccCgactcctaaaatgagcaaac	5	12	1	2	rs150315726	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1788G>A	p.=	p.S596S	ENST00000477853	16/23	17	7	10	36			EMC1,synonymous_variant,p.S596S,ENST00000477853,NM_015047.2&NM_001271428.1,c.1788G>A,LOW,YES,,,-1;EMC1,synonymous_variant,p.S595S,ENST00000375199,NM_001271427.1,c.1785G>A,LOW,,,,-1;EMC1,synonymous_variant,p.S574S,ENST00000375208,NM_001271429.1,c.1722G>A,LOW,,,,-1;RP1-43E13.2,intron_variant,,ENST00000437898,,n.60-8840C>T,MODIFIER,YES,,,1;EMC1,upstream_gene_variant,,ENST00000494770,,,MODIFIER,,,,-1	T	ENST00000477853	Transcript	synonymous_variant	synonymous_variant	1831/6664	1788/2982	596/993	S	tcG/tcA	rs150315726	1		-1	EMC1	HGNC	HGNC:28957	protein_coding	YES	CCDS190.1	ENSP00000420608	Q8N766		UPI0000070A23	NM_015047.2;NM_001271428.1			16/23										5e-04	0								LOW	1	SNV	1			1	2.471e-05	2.581e-05	9.994e-05	0	0	0	3.137e-05	0	0		PASS	ATTCCCGACTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	19231417	19231417	C	T	1	0	0	0	0	0	0	0	1	4921	666	23	2		2	EMC1	1	19231417	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	376832	19231417	229725005	8	1181											
NBPF3	84224	BI	GRCh38	chr1	21483149	21483149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccttttccaggctcaaCgaggtgctgatggaagcaga	12	10	2	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1665C>T	p.=	p.N555N	ENST00000318249	15/15	67	31	36	164			NBPF3,synonymous_variant,p.N543N,ENST00000342104,NM_001256416.2,c.1629C>T,LOW,,,,1;NBPF3,synonymous_variant,p.N555N,ENST00000318249,NM_032264.4,c.1665C>T,LOW,YES,,,1;NBPF3,synonymous_variant,p.N485N,ENST00000454000,NM_001256417.2,c.1455C>T,LOW,,,,1;NBPF3,synonymous_variant,p.N499N,ENST00000619554,,c.1497C>T,LOW,,,,1;NBPF3,non_coding_transcript_exon_variant,,ENST00000469876,,n.823C>T,MODIFIER,,,,1;NBPF3,downstream_gene_variant,,ENST00000477050,,,MODIFIER,,,,1;NBPF3,3_prime_UTR_variant,,ENST00000318220,,c.*2032C>T,MODIFIER,,,,1;NBPF3,3_prime_UTR_variant,,ENST00000434838,,c.*2253C>T,MODIFIER,,,,1	T	ENST00000318249	Transcript	synonymous_variant	synonymous_variant	1840/3591	1665/1902	555/633	N	aaC/aaT		1		1	NBPF3	HGNC	HGNC:25076	protein_coding	YES	CCDS216.1	ENSP00000316782	Q9H094		UPI0000037D6C	NM_032264.4			15/15		Pfam_domain:PF06758																	LOW	1	SNV	1			1											PASS	CTCAACGAGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	21483149	21483149	C	T	1	0	0	0	0	0	0	0	1	10212	535	19	1		1	NBPF3	1	21483149	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2251732	21483149	227473273	9	1182											
HSPG2	3339	BI	GRCh38	chr1	21850169	21850169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagacgatgactcgatccGgaccgtgggggtgaccccaa	14	12	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7318C>T	p.Arg2440Trp	p.R2440W	ENST00000374695	57/97	43	31	12	54			HSPG2,missense_variant,p.R2440W,ENST00000374695,NM_005529.5&NM_001291860.1,c.7318C>T,MODERATE,YES,,probably_damaging(1),-1;HSPG2,upstream_gene_variant,,ENST00000453796,,,MODIFIER,,,,-1;HSPG2,downstream_gene_variant,,ENST00000493940,,,MODIFIER,,,,-1	A	ENST00000374695	Transcript	missense_variant	missense_variant	7398/14327	7318/13176	2440/4391	R/W	Cgg/Tgg		1		-1	HSPG2	HGNC	HGNC:5273	protein_coding	YES	CCDS30625.1	ENSP00000363827	P98160		UPI0000212778	NM_005529.5;NM_001291860.1		probably_damaging(1)	57/97		Pfam_domain:PF07679;PROSITE_profiles:PS50835;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	GATCCGGACCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3385772	True	Unknown	A	3	1	80	21850169	21850169	G	A	1	0	0	0	0	1	0	0	0	7326	1115	39	2		2	HSPG2	1	21850169	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	367020	21850169	227106253	10	1183											
GRHL3	57822	BI	GRCh38	chr1	24342713	24342713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagctgagaggaagatgcGcgatgacgagcggaagcagt	19	6	0	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1226G>A	p.Arg409His	p.R409H	ENST00000350501	10/16	65	45	20	108			GRHL3,missense_variant,p.R409H,ENST00000361548,NM_198173.2,c.1226G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;GRHL3,missense_variant,p.R363H,ENST00000356046,NM_001195010.1,c.1088G>A,MODERATE,,deleterious(0),probably_damaging(0.986),1;GRHL3,missense_variant,p.R409H,ENST00000350501,NM_198174.2,c.1226G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),1;GRHL3,missense_variant,p.R414H,ENST00000236255,NM_021180.3,c.1241G>A,MODERATE,,deleterious(0),probably_damaging(0.988),1;GRHL3,3_prime_UTR_variant,,ENST00000528064,,c.*895G>A,MODIFIER,,,,1;GRHL3,non_coding_transcript_exon_variant,,ENST00000461318,,n.134G>A,MODIFIER,,,,1;GRHL3,downstream_gene_variant,,ENST00000528181,,,MODIFIER,,,,1	A	ENST00000350501	Transcript	missense_variant	missense_variant	1353/2119	1226/1881	409/626	R/H	cGc/cAc		1		1	GRHL3	HGNC	HGNC:25839	protein_coding	YES	CCDS252.2	ENSP00000288955	Q8TE85			NM_198174.2	deleterious(0)	probably_damaging(0.995)	10/16		Pfam_domain:PF04516																	MODERATE	1	SNV	2			1											PASS	GATGCGCGATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	24342713	24342713	G	A	1	0	0	0	0	1	0	0	0	6645	1087	38	2		2	GRHL3	1	24342713	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2492544	24342713	224613709	11	1184											
TRIM63	84676	BI	GRCh38	chr1	26060279	26060279	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaccttggtcactcgaCgggaatcctccagctgagtg	11	14	2	1	rs764437396	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.584G>A	p.Arg195His	p.R195H	ENST00000374272	4/9	61	33	28	84			TRIM63,missense_variant,p.R195H,ENST00000374272,NM_032588.3,c.584G>A,MODERATE,YES,deleterious(0),benign(0.243),-1;TRIM63,downstream_gene_variant,,ENST00000483052,,,MODIFIER,,,,-1	T	ENST00000374272	Transcript	missense_variant	missense_variant	723/1770	584/1062	195/353	R/H	cGt/cAt	rs764437396	1		-1	TRIM63	HGNC	HGNC:16007	protein_coding	YES	CCDS273.1	ENSP00000363390	Q969Q1		UPI00000437F6	NM_032588.3	deleterious(0)	benign(0.243)	4/9																			MODERATE	1	SNV	1			1	2.471e-05	2.474e-05	9.63e-05	0	0.0001158	0	1.5e-05	0	0		PASS	CTCGACGGGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	26060279	26060279	C	T	1	0	0	0	0	1	0	0	0	17030	536	19	1		1	TRIM63	1	26060279	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1717566	26060279	222896143	12	1185											
SRSF4	6429	BI	GRCh38	chr1	29149122	29149122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccagcgctatggctgCggctgcggctcttttccttg	12	13	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.773G>A	p.Arg258His	p.R258H	ENST00000373795	6/6	275	154	121	219			SRSF4,missense_variant,p.R258H,ENST00000373795,NM_005626.4,c.773G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.522),-1;SRSF4,missense_variant,p.R228H,ENST00000466448,,c.683G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.715),-1;RP11-242O24.3,upstream_gene_variant,,ENST00000413004,,,MODIFIER,YES,,,-1	T	ENST00000373795	Transcript	missense_variant	missense_variant	1008/2387	773/1485	258/494	R/H	cGc/cAc		1		-1	SRSF4	HGNC	HGNC:10786	protein_coding	YES	CCDS333.1	ENSP00000362900	Q08170		UPI00001358BF	NM_005626.4	deleterious(0.02)	possibly_damaging(0.522)	6/6		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50323;PROSITE_profiles:PS50324																	MODERATE	1	SNV	1			1											PASS	GGCTGCGGCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5053372	True	Unknown	T	3	4	80	29149122	29149122	C	T	1	0	0	0	0	1	0	0	0	15541	768	27	2		2	SRSF4	1	29149122	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3088843	29149122	219807300	13	1186											
PTPRU	10076	BI	GRCh38	chr1	29311656	29311656	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctaggtgaaatgctcacGgtactggccggaggactcag	13	11	3	1	rs752247574	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2999G>A	p.Arg1000Gln	p.R1000Q	ENST00000345512	22/31	56	29	27	76			PTPRU,missense_variant,p.R990Q,ENST00000373779,NM_133178.3,c.2969G>A,MODERATE,,tolerated(0.11),benign(0.071),1;PTPRU,missense_variant,p.R987Q,ENST00000428026,NM_001195001.1,c.2960G>A,MODERATE,,tolerated(0.13),benign(0.048),1;PTPRU,missense_variant,p.R996Q,ENST00000460170,NM_133177.3,c.2987G>A,MODERATE,,tolerated(0.11),benign(0.071),1;PTPRU,missense_variant,p.R1000Q,ENST00000345512,NM_005704.4,c.2999G>A,MODERATE,YES,tolerated(0.11),benign(0.081),1;PTPRU,non_coding_transcript_exon_variant,,ENST00000415600,,n.1332G>A,MODIFIER,,,,1;PTPRU,non_coding_transcript_exon_variant,,ENST00000526080,,n.213G>A,MODIFIER,,,,1	A	ENST00000345512	Transcript	missense_variant	missense_variant	3128/4470	2999/4341	1000/1446	R/Q	cGg/cAg	rs752247574	1		1	PTPRU	HGNC	HGNC:9683	protein_coding	YES	CCDS334.1	ENSP00000334941	Q92729			NM_005704.4	tolerated(0.11)	benign(0.081)	22/31		Pfam_domain:PF00102;PROSITE_profiles:PS50055;SMART_domains:SM00194;Superfamily_domains:SSF52799																	MODERATE	1	SNV	1			1	1.647e-05	1.648e-05	0	8.639e-05	0.0001156	0	0	0	0		panel_of_normals	CTCACGGTACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	29311656	29311656	G	A	1	0	0	0	0	1	0	0	0	12968	1116	39	2		2	PTPRU	1	29311656	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	162534	29311656	219644766	14	1187											
ZSCAN20	7579	BI	GRCh38	chr1	33495249	33495249	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtgtggaaaattcttcCgtgaccgttctaacctcatt	8	9	3	2	rs763522543	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2905C>T	p.Arg969Cys	p.R969C	ENST00000361328	8/8	36	17	19	60			ZSCAN20,missense_variant,p.R969C,ENST00000361328,NM_145238.3,c.2905C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),1;ZSCAN20,downstream_gene_variant,,ENST00000373413,,,MODIFIER,,,,1	T	ENST00000361328	Transcript	missense_variant	missense_variant	3058/4316	2905/3132	969/1043	R/C	Cgt/Tgt	rs763522543	1		1	ZSCAN20	HGNC	HGNC:13093	protein_coding	YES	CCDS41300.1	ENSP00000355053	P17040		UPI0000D61EC5	NM_145238.3	deleterious(0)	probably_damaging(0.998)	8/8		Pfam_domain:PF00096;PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	2			1	3.301e-05	3.339e-05	0	0	0	0	1.505e-05	0	0.0001899		PASS	TCTTCCGTGAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	33495249	33495249	C	T	1	0	0	0	0	1	0	0	0	18826	652	23	2		2	ZSCAN20	1	33495249	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4183593	33495249	215461173	15	1188											
CSMD2	114784	BI	GRCh38	chr1	33624546	33624546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagcgccttcggggaccacGatcttccacacacagttgag	10	15	1	1	rs761883622	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5478C>T	p.=	p.I1826I	ENST00000241312	35/70	55	46	9	71			CSMD2,synonymous_variant,p.I1866I,ENST00000373381,NM_001281956.1,c.5598C>T,LOW,YES,,,-1;CSMD2,synonymous_variant,p.I1826I,ENST00000619121,,c.5478C>T,LOW,,,,-1;CSMD2,synonymous_variant,p.I1826I,ENST00000373388,NM_052896.4,c.5478C>T,LOW,,,,-1;CSMD2,synonymous_variant,p.I739I,ENST00000373380,,c.2217C>T,LOW,,,,-1;CSMD2,5_prime_UTR_variant,,ENST00000373377,,c.-106C>T,MODIFIER,,,,-1;CSMD2,synonymous_variant,p.I1826I,ENST00000241312,,c.5478C>T,LOW,,,,-1	A	ENST00000241312	Transcript	synonymous_variant	synonymous_variant;NMD_transcript_variant	5507/13108	5478/10464	1826/3487	I	atC/atT	rs761883622	1		-1	CSMD2	HGNC	HGNC:19290	nonsense_mediated_decay		CCDS380.1	ENSP00000241312	Q7Z408		UPI00004561AB				35/70		Pfam_domain:PF00431;PROSITE_profiles:PS01180;SMART_domains:SM00042;Superfamily_domains:SSF49854																	LOW		SNV	1			1	1.647e-05	1.649e-05	0	8.64e-05	0	0	1.501e-05	0	0		PASS	ACCACGATCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3488531;COSM3488532	True	Unknown	A	2	1	80	33624546	33624546	G	A	1	0	0	0	0	0	0	0	1	3746	1048	37	2		2	CSMD2	1	33624546	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	129297	33624546	215331876	16	1189											
DLGAP3	58512	BI	GRCh38	chr1	34900087	34900087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgatcctggcctggtccaCgctggaggagcgacgggtgg	17	11	0	1	rs377551672	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1294G>A	p.Val432Met	p.V432M	ENST00000235180	2/10	27	19	8	52			DLGAP3,missense_variant,p.V432M,ENST00000373347,,c.1294G>A,MODERATE,YES,tolerated(0.25),benign(0.375),-1;DLGAP3,missense_variant,p.V432M,ENST00000235180,NM_001080418.1,c.1294G>A,MODERATE,,tolerated(0.25),benign(0.375),-1	T	ENST00000235180	Transcript	missense_variant	missense_variant	1294/3587	1294/2940	432/979	V/M	Gtg/Atg	rs377551672	1		-1	DLGAP3	HGNC	HGNC:30368	protein_coding		CCDS30670.1	ENSP00000235180	O95886		UPI00003D4D81	NM_001080418.1	tolerated(0.25)	benign(0.375)	2/10										0	1e-04								MODERATE		SNV	2			1	8.236e-06	8.261e-06	0	0	0	0	1.503e-05	0	0		PASS	GTCCACGCTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2079939	True	Unknown	T	3	4	80	34900087	34900087	C	T	1	0	0	0	0	1	0	0	0	4368	536	19	1		1	DLGAP3	1	34900087	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1275541	34900087	214056335	17	1190											
GRIK3	2899	BI	GRCh38	chr1	36841902	36841902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggtcattcccgtatagcGtcctgtctgatttccgaaac	8	13	2	1	rs376333303	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1364C>T	p.Thr455Met	p.T455M	ENST00000373091	10/16	96	48	48	111			GRIK3,missense_variant,p.T455M,ENST00000373091,NM_000831.3,c.1364C>T,MODERATE,YES,tolerated(0.13),possibly_damaging(0.492),-1;GRIK3,missense_variant,p.T455M,ENST00000373093,,c.1364C>T,MODERATE,,tolerated(0.15),possibly_damaging(0.492),-1	A	ENST00000373091	Transcript	missense_variant	missense_variant	1381/9101	1364/2760	455/919	T/M	aCg/aTg	rs376333303	1		-1	GRIK3	HGNC	HGNC:4581	protein_coding	YES	CCDS416.1	ENSP00000362183	Q13003		UPI000013E311	NM_000831.3	tolerated(0.13)	possibly_damaging(0.492)	10/16		Pfam_domain:PF10613;Pfam_domain:PF00497;SMART_domains:SM00079;SMART_domains:SM00918;Superfamily_domains:SSF53850								0	1e-04								MODERATE	1	SNV	1			1	9.884e-05	9.884e-05	0	0	0	0.0004536	0.0001199	0	6.056e-05		PASS	ATAGCGTCCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM186834;COSM3751170	True	Unknown	A	3	1	80	36841902	36841902	G	A	1	0	0	0	0	1	0	0	0	6657	1145	40	1		1	GRIK3	1	36841902	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1941815	36841902	212114520	18	1191											
COL9A2	1298	BI	GRCh38	chr1	40311131	40311131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcacccagaatcccgcGtttgcccgcatgcccctgaa	9	16	1	2	rs767929481	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.592C>T	p.Arg198Cys	p.R198C	ENST00000372748	12/32	31	23	8	41			COL9A2,missense_variant,p.R198C,ENST00000372748,NM_001852.3,c.592C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.898),-1;COL9A2,missense_variant,p.R187C,ENST00000417105,,c.557C>T,MODERATE,,deleterious(0.01),probably_damaging(0.929),-1;COL9A2,downstream_gene_variant,,ENST00000372736,,,MODIFIER,,,,-1;COL9A2,downstream_gene_variant,,ENST00000490132,,,MODIFIER,,,,-1;COL9A2,downstream_gene_variant,,ENST00000495948,,,MODIFIER,,,,-1;COL9A2,non_coding_transcript_exon_variant,,ENST00000482722,,n.895C>T,MODIFIER,,,,-1;COL9A2,non_coding_transcript_exon_variant,,ENST00000488463,,n.643C>T,MODIFIER,,,,-1;COL9A2,downstream_gene_variant,,ENST00000461118,,,MODIFIER,,,,-1;COL9A2,downstream_gene_variant,,ENST00000496215,,,MODIFIER,,,,-1	A	ENST00000372748	Transcript	missense_variant	missense_variant	689/2862	592/2070	198/689	R/C	Cgc/Tgc	rs767929481	1		-1	COL9A2	HGNC	HGNC:2218	protein_coding	YES	CCDS450.1	ENSP00000361834	Q14055		UPI0000126D47	NM_001852.3	deleterious(0.01)	possibly_damaging(0.898)	12/32		Pfam_domain:PF01391;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1	2.471e-05	2.472e-05	0	0	0	0	1.499e-05	0	0.0001211		PASS	CCCGCGTTTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	40311131	40311131	G	A	1	0	0	0	0	1	0	0	0	3497	1145	40	1		1	COL9A2	1	40311131	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469229	40311131	208645291	19	1192											
HIVEP3	59269	BI	GRCh38	chr1	41583282	41583282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggatgacaggggctcccGgtagaggctggattttgggg	20	6	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1516C>T	p.Arg506Trp	p.R506W	ENST00000247584	3/8	71	44	27	61			HIVEP3,missense_variant,p.R506W,ENST00000372584,NM_001127714.2,c.1516C>T,MODERATE,,,probably_damaging(1),-1;HIVEP3,missense_variant,p.R506W,ENST00000372583,NM_024503.4,c.1516C>T,MODERATE,YES,,probably_damaging(0.999),-1;HIVEP3,missense_variant,p.R506W,ENST00000247584,,c.1516C>T,MODERATE,,,probably_damaging(0.999),-1;HIVEP3,upstream_gene_variant,,ENST00000460604,,,MODIFIER,,,,-1	A	ENST00000247584	Transcript	missense_variant	missense_variant	2322/12110	1516/7221	506/2406	R/W	Cgg/Tgg		1		-1	HIVEP3	HGNC	HGNC:13561	protein_coding		CCDS463.1	ENSP00000247584	Q5T1R4		UPI000013CC24			probably_damaging(0.999)	3/8																			MODERATE		SNV	1			1											PASS	CTCCCGGTAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	41583282	41583282	G	A	1	0	0	0	0	1	0	0	0	7077	1115	39	2		2	HIVEP3	1	41583282	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1272151	41583282	207373140	20	1193											
ST3GAL3	6487	BI	GRCh38	chr1	43920545	43920545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacaatggcctcatgggcCggggggtgagatatctgggc	16	9	3	1	rs554609799	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.886C>T	p.Arg296Trp	p.R296W	ENST00000361392	10/12	33	19	14	55			ST3GAL3,missense_variant,p.R365W,ENST00000262915,NM_174963.3,c.1093C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;ST3GAL3,missense_variant,p.R334W,ENST00000351035,NM_174971.3,c.1000C>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;ST3GAL3,missense_variant,p.R296W,ENST00000361392,NM_006279.3,c.886C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;ST3GAL3,missense_variant,p.R280W,ENST00000361400,NM_174969.2,c.838C>T,MODERATE,,deleterious(0),probably_damaging(0.913),1;ST3GAL3,missense_variant,p.R265W,ENST00000372374,NM_001270460.1,c.793C>T,MODERATE,,deleterious(0),probably_damaging(0.978),1;ST3GAL3,missense_variant,p.R365W,ENST00000361746,,c.1093C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;ST3GAL3,missense_variant,p.R311W,ENST00000347631,NM_174964.2,c.931C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;ST3GAL3,missense_variant,p.R350W,ENST00000372368,NM_174968.3,c.1048C>T,MODERATE,,deleterious(0),probably_damaging(0.978),1;ST3GAL3,missense_variant,p.R334W,ENST00000372372,,c.1000C>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;ST3GAL3,missense_variant,p.R266W,ENST00000372369,NM_001270459.1,c.796C>T,MODERATE,,deleterious(0),probably_damaging(0.963),1;ST3GAL3,missense_variant,p.R265W,ENST00000332628,,c.793C>T,MODERATE,,deleterious(0),probably_damaging(0.978),1;ST3GAL3,missense_variant,p.R95W,ENST00000490502,,c.282C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;ST3GAL3,intron_variant,,ENST00000353126,NM_174966.2,c.745-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000335430,NM_001270465.1,c.*23-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000545417,NM_174965.2,c.443-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000330208,NM_001270466.1,c.255-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000533933,,c.745-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000531993,NM_001270462.1&NM_001270461.1,c.697-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000372365,,c.*23-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000372366,,c.*23-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000372367,NM_001270463.1,c.555-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000528371,NM_001270464.1,c.510-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000361812,,c.443-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000372362,NM_174967.2,c.398-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000531451,NM_174970.2,c.350-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000531816,,c.255-9587C>T,MODIFIER,,,,1;ST3GAL3,downstream_gene_variant,,ENST00000461375,,,MODIFIER,,,,1;ST3GAL3,synonymous_variant,p.A217A,ENST00000530581,,c.651C>T,LOW,,,,1;ST3GAL3,3_prime_UTR_variant,,ENST00000469715,,c.*348C>T,MODIFIER,,,,1;ST3GAL3,3_prime_UTR_variant,,ENST00000490541,,c.*512C>T,MODIFIER,,,,1;ST3GAL3,3_prime_UTR_variant,,ENST00000533212,,c.*83C>T,MODIFIER,,,,1;ST3GAL3,non_coding_transcript_exon_variant,,ENST00000495482,,n.423C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000533997,,c.*570-9587C>T,MODIFIER,,,,1;ST3GAL3,intron_variant,,ENST00000489897,,c.*366-9587C>T,MODIFIER,,,,1;ST3GAL3,downstream_gene_variant,,ENST00000530154,,,MODIFIER,,,,1	T	ENST00000361392	Transcript	missense_variant	missense_variant	1063/2243	886/1128	296/375	R/W	Cgg/Tgg	rs554609799	1		1	ST3GAL3	HGNC	HGNC:10866	protein_coding		CCDS492.1	ENSP00000355341	Q11203		UPI000000D7A9	NM_006279.3	deleterious(0)	probably_damaging(0.994)	10/12		Pfam_domain:PF00777;PIRSF_domain:PIRSF005557	2e-04	0	0		0.001	0	0										MODERATE		SNV	1			1											PASS	TGGGCCGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	43920545	43920545	C	T	1	0	0	0	0	1	0	0	0	15594	666	23	2		2	ST3GAL3	1	43920545	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2337263	43920545	205035877	21	1194											
SLC6A9	6536	BI	GRCh38	chr1	43997900	43997900	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagagccggaacatggcGtagagggggatgcagaggac	19	8	0	3	rs145370858	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1881C>T	p.=	p.Y627Y	ENST00000360584	13/14	21	17	4	40			SLC6A9,synonymous_variant,p.Y554Y,ENST00000372310,NM_001024845.2,c.1662C>T,LOW,,,,-1;SLC6A9,synonymous_variant,p.Y627Y,ENST00000360584,NM_201649.3,c.1881C>T,LOW,YES,,,-1;SLC6A9,synonymous_variant,p.Y573Y,ENST00000357730,NM_001261380.1&NM_006934.3,c.1719C>T,LOW,,,,-1;SLC6A9,synonymous_variant,p.Y443Y,ENST00000475075,,c.1329C>T,LOW,,,,-1;SLC6A9,intron_variant,,ENST00000372307,,c.1341+2867C>T,MODIFIER,,,,-1;SLC6A9,intron_variant,,ENST00000372306,,c.1624+2867C>T,MODIFIER,,,,-1;CCDC24,downstream_gene_variant,,ENST00000372318,NM_152499.1,,MODIFIER,YES,,,1;CCDC24,downstream_gene_variant,,ENST00000466180,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000479055,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000472562,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000486064,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000490563,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000463846,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000485811,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000486504,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000460543,,,MODIFIER,,,,1;CCDC24,downstream_gene_variant,,ENST00000490064,,,MODIFIER,,,,1	A	ENST00000360584	Transcript	synonymous_variant	synonymous_variant	2073/2330	1881/2121	627/706	Y	taC/taT	rs145370858	1		-1	SLC6A9	HGNC	HGNC:11056	protein_coding	YES	CCDS41317.1	ENSP00000353791	P48067		UPI000053030B	NM_201649.3			13/14		Pfam_domain:PF00209;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50267								2e-04	0								LOW	1	SNV	1			1	2.471e-05	2.486e-05	9.654e-05	0	0	0	0	0	0.0001225		PASS	ATGGCGTAGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	43997900	43997900	G	A	1	0	0	0	0	0	0	0	1	14974	1140	40	1		1	SLC6A9	1	43997900	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	77355	43997900	204958522	22	1195											
LRP8	7804	BI	GRCh38	chr1	53276726	53276726	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgatttgtctttgcagtcGcggtcgccgtcgcagcgcca	12	14	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.849C>T	p.=	p.R283R	ENST00000306052	5/19	3	0	3	9			LRP8,synonymous_variant,p.R283R,ENST00000306052,NM_004631.4,c.849C>T,LOW,YES,,,-1;LRP8,synonymous_variant,p.R283R,ENST00000371454,NM_001018054.2,c.849C>T,LOW,,,,-1;LRP8,intron_variant,,ENST00000465675,,c.-332-973C>T,MODIFIER,,,,-1;LRP8,intron_variant,,ENST00000354412,NM_017522.4,c.497-973C>T,MODIFIER,,,,-1;LRP8,intron_variant,,ENST00000613948,,c.497-973C>T,MODIFIER,,,,-1;LRP8,intron_variant,,ENST00000347547,NM_033300.3,c.496+3861C>T,MODIFIER,,,,-1;LRP8,upstream_gene_variant,,ENST00000475501,,,MODIFIER,,,,-1;LRP8,synonymous_variant,p.R283R,ENST00000480045,,c.849C>T,LOW,,,,-1	A	ENST00000306052	Transcript	synonymous_variant	synonymous_variant	951/7648	849/2892	283/963	R	cgC/cgT		1		-1	LRP8	HGNC	HGNC:6700	protein_coding	YES	CCDS578.1	ENSP00000303634	Q14114		UPI00001AF338	NM_004631.4			5/19		Pfam_domain:PF00057;Prints_domain:PR00261;PROSITE_profiles:PS50311;PROSITE_profiles:PS50068;SMART_domains:SM00192;Superfamily_domains:SSF57424																	LOW	1	SNV	1			1											PASS	CAGTCGCGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			False	Unknown	A	2	1	80	53276726	53276726	G	A	1	0	0	0	0	0	0	0	1	8858	1074	38	2		2	LRP8	1	53276726	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9278826	53276726	195679696	23	1196											
CDCP2	200008	BI	GRCh38	chr1	54144713	54144713	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggatccctcggccaccacGatcagccagctgcactctgt	10	16	2	0	rs150004831	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.180C>T	p.=	p.I60I	ENST00000371330	2/4	23	11	12	29			CDCP2,synonymous_variant,p.I60I,ENST00000371330,NM_201546.3,c.180C>T,LOW,YES,,,-1;RP11-446E24.4,non_coding_transcript_exon_variant,,ENST00000525949,,n.193C>T,MODIFIER,,,,-1;RP11-446E24.3,downstream_gene_variant,,ENST00000623663,,,MODIFIER,YES,,,1;CDCP2,upstream_gene_variant,,ENST00000530059,,,MODIFIER,,,,-1;RP11-446E24.4,3_prime_UTR_variant,,ENST00000311841,,c.*528C>T,MODIFIER,YES,,,-1	A	ENST00000371330	Transcript	synonymous_variant	synonymous_variant	1028/2723	180/1350	60/449	I	atC/atT	rs150004831	1		-1	CDCP2	HGNC	HGNC:27297	protein_coding	YES	CCDS588.2	ENSP00000360381	Q5VXM1		UPI0000458963	NM_201546.3			2/4		Pfam_domain:PF00431;PROSITE_profiles:PS01180;SMART_domains:SM00042;Superfamily_domains:SSF49854								2e-04	0								LOW	1	SNV	2			1	1.647e-05	1.653e-05	9.675e-05	0	0	0	0	0	6.09e-05		PASS	ACCACGATCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2193645	True	Unknown	A	2	1	80	54144713	54144713	G	A	1	0	0	0	0	0	0	0	1	2797	1048	37	2		2	CDCP2	1	54144713	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	867987	54144713	194811709	24	1197											
CACHD1	57685	BI	GRCh38	chr1	64675411	64675411	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgtagggggatttgaCgaaccttgtgcatggcagcc	14	8	1	1	rs182391558	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2585C>T	p.Thr862Met	p.T862M	ENST00000290039	20/27	92	81	11	90			CACHD1,missense_variant,p.T862M,ENST00000290039,NM_020925.2,c.2585C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.84),1;CACHD1,non_coding_transcript_exon_variant,,ENST00000495994,,n.2968C>T,MODIFIER,,,,1;CACHD1,non_coding_transcript_exon_variant,,ENST00000470527,,n.2676C>T,MODIFIER,,,,1	T	ENST00000290039	Transcript	missense_variant	missense_variant	2691/5275	2585/3672	862/1223	T/M	aCg/aTg	rs182391558	1		1	CACHD1	HGNC	HGNC:29314	protein_coding	YES	CCDS628.2	ENSP00000290039		A0A0A0MQY7	UPI0000458A70	NM_020925.2	deleterious(0)	possibly_damaging(0.84)	20/27			2e-04	0	0.0014		0	0	0										MODERATE	1	SNV	5			1	8.236e-06	8.273e-06	0	8.648e-05	0	0	0	0	0		PASS	TTTGACGAACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3400948	True	Unknown	T	3	4	80	64675411	64675411	C	T	1	0	0	0	0	1	0	0	0	2225	536	19	1		1	CACHD1	1	64675411	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10530698	64675411	184281011	25	1198											
CLCA1	1179	BI	GRCh38	chr1	86494297	86494297	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attacagtgacttccaaaacGaacaaggacaccagcaaatt	6	10	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1791G>A	p.=	p.T597T	ENST00000234701	12/15	41	22	19	43			CLCA1,synonymous_variant,p.T597T,ENST00000234701,,c.1791G>A,LOW,YES,,,1;CLCA1,synonymous_variant,p.T597T,ENST00000394711,NM_001285.3,c.1791G>A,LOW,,,,1	A	ENST00000234701	Transcript	synonymous_variant	synonymous_variant	2142/3310	1791/2745	597/914	T	acG/acA		1		1	CLCA1	HGNC	HGNC:2015	protein_coding	YES	CCDS709.1	ENSP00000234701	A8K7I4		UPI00001AE689				12/15		Pfam_domain:PF09315;TIGRFAM_domain:TIGR00868																	LOW	1	SNV	1			1											PASS	AAAACGAACAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3419537	True	Unknown	A	2	1	80	86494297	86494297	G	A	1	0	0	0	0	0	0	0	1	3221	1045	37	2		2	CLCA1	1	86494297	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	21818886	86494297	162462125	26	1199											
NOTCH2	4853	BI	GRCh38	chr1	119963578	119963578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagagtgggcttacctgaCgtgcctggctggcagttgca	14	10	0	2	rs369028361	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1911G>A	p.=	p.T637T	ENST00000256646	11/34	176	165	11	195			NOTCH2,synonymous_variant,p.T637T,ENST00000256646,NM_024408.3,c.1911G>A,LOW,YES,,,-1;NOTCH2,synonymous_variant,p.T598T,ENST00000579475,,c.1794G>A,LOW,,,,-1;NOTCH2,non_coding_transcript_exon_variant,,ENST00000479412,,n.2049G>A,MODIFIER,,,,-1	T	ENST00000256646	Transcript	synonymous_variant	synonymous_variant	2131/11389	1911/7416	637/2471	T	acG/acA	rs369028361	1		-1	NOTCH2	HGNC	HGNC:7882	protein_coding	YES	CCDS908.1	ENSP00000256646	Q04721		UPI000013CF1D	NM_024408.3			11/34		Pfam_domain:PF00008;PROSITE_profiles:PS50311;PROSITE_profiles:PS50026;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196;PIRSF_domain:PIRSF002279								0	1e-04								LOW	1	SNV	1			1	2.471e-05	2.473e-05	0	0	0	0	4.499e-05	0	0		PASS	CCTGACGTGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	119963578	119963578	C	T	1	0	0	0	0	0	0	0	1	10593	550	19	1		1	NOTCH2	1	119963578	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	33469281	119963578	128992844	27	1200											
TCHH	7062	BI	GRCh38	chr1	152109157	152109157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcacgctcttggcggcGcagcggctgttcctcccttt	11	15	3	0	rs780658407	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4060C>T	p.Arg1354Cys	p.R1354C	ENST00000368804	2/2	223	199	24	209			TCHH,missense_variant,p.R1354C,ENST00000614923,NM_007113.3,c.4060C>T,MODERATE,YES,,unknown(0),-1;TCHH,missense_variant,p.R1354C,ENST00000368804,,c.4060C>T,MODERATE,,,unknown(0),-1	A	ENST00000368804	Transcript	missense_variant	missense_variant	4060/6900	4060/5832	1354/1943	R/C	Cgc/Tgc	rs780658407	1		-1	TCHH	HGNC	HGNC:11791	protein_coding		CCDS41396.1	ENSP00000357794	Q07283		UPI0000458A5E			unknown(0)	2/2		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50323;PROSITE_profiles:PS50322;PROSITE_profiles:PS50313																	MODERATE		SNV	1			1	1.655e-05	1.66e-05	0	0	0	0	3.005e-05	0	0		PASS	GCGGCGCAGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM895994	True	Unknown	A	3	1	80	152109157	152109157	G	A	1	0	0	0	0	1	0	0	0	16107	1087	38	2		2	TCHH	1	152109157	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	32145579	152109157	96847265	28	1201											
EFNA4	1945	BI	GRCh38	chr1	155068970	155068970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctgcttctgattcttcGtcttctgcgaattctgtgag	9	10	5	2	rs200331554	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.587G>A	p.Arg196His	p.R196H	ENST00000368409	4/4	48	37	11	82			EFNA4,missense_variant,p.R196H,ENST00000368409,NM_005227.2,c.587G>A,MODERATE,,deleterious_low_confidence(0.04),unknown(0),1;EFNA4,intron_variant,,ENST00000359751,NM_182690.2,c.470-29G>A,MODIFIER,,,,1;EFNA4,intron_variant,,ENST00000427683,NM_182689.1,c.470-49G>A,MODIFIER,YES,,,1;RP11-540D14.8,intron_variant,,ENST00000505139,,c.113+5034G>A,MODIFIER,YES,,,1	A	ENST00000368409	Transcript	missense_variant	missense_variant	680/1263	587/606	196/201	R/H	cGt/cAt	rs200331554	1		1	EFNA4	HGNC	HGNC:3224	protein_coding		CCDS1089.1	ENSP00000357394	P52798		UPI0000129C90	NM_005227.2	deleterious_low_confidence(0.04)	unknown(0)	4/4		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1	1.647e-05	1.65e-05	0	0	0	0	3e-05	0	0		panel_of_normals	TCTTCGTCTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM4022934	True	Unknown	A	3	1	80	155068970	155068970	G	A	1	0	0	0	0	1	0	0	0	4789	1145	40	1		1	EFNA4	1	155068970	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2959813	155068970	93887452	29	1202											
THBS3	7059	BI	GRCh38	chr1	155198098	155198098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccctcaggatccaggaCgacggtctgataggcccgaa	11	13	3	1	rs373078740	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2197G>A	p.Val733Ile	p.V733I	ENST00000368378	18/23	30	26	4	49			THBS3,missense_variant,p.V724I,ENST00000541576,NM_001252607.1,c.2170G>A,MODERATE,,tolerated(0.29),benign(0),-1;THBS3,missense_variant,p.V733I,ENST00000368378,NM_007112.4,c.2197G>A,MODERATE,YES,tolerated(0.29),benign(0.001),-1;THBS3,missense_variant,p.V262I,ENST00000541990,,c.784G>A,MODERATE,,tolerated(0.55),benign(0.001),-1;THBS3,missense_variant,p.V613I,ENST00000457183,NM_001252608.1,c.1837G>A,MODERATE,,tolerated(0.3),benign(0),-1;MIR92B,downstream_gene_variant,,ENST00000607575,,,MODIFIER,YES,,,1;RP11-263K19.4,intron_variant,,ENST00000447623,,n.151-305C>T,MODIFIER,,,,1;RP11-263K19.4,upstream_gene_variant,,ENST00000453136,,,MODIFIER,YES,,,1;RP11-263K19.4,upstream_gene_variant,,ENST00000430312,,,MODIFIER,,,,1;RP11-263K19.4,upstream_gene_variant,,ENST00000436772,,,MODIFIER,,,,1;RP11-263K19.4,upstream_gene_variant,,ENST00000454348,,,MODIFIER,,,,1;RP11-263K19.4,upstream_gene_variant,,ENST00000422665,,,MODIFIER,,,,1;THBS3,non_coding_transcript_exon_variant,,ENST00000465596,,n.462G>A,MODIFIER,,,,-1;THBS3,downstream_gene_variant,,ENST00000486260,,,MODIFIER,,,,-1;THBS3,downstream_gene_variant,,ENST00000460050,,,MODIFIER,,,,-1;THBS3,3_prime_UTR_variant,,ENST00000428962,,c.*519G>A,MODIFIER,,,,-1;THBS3,downstream_gene_variant,,ENST00000496332,,,MODIFIER,,,,-1;THBS3,upstream_gene_variant,,ENST00000469769,,,MODIFIER,,,,-1;THBS3,upstream_gene_variant,,ENST00000498500,,,MODIFIER,,,,-1	T	ENST00000368378	Transcript	missense_variant	missense_variant	2218/3145	2197/2871	733/956	V/I	Gtc/Atc	rs373078740	1		-1	THBS3	HGNC	HGNC:11787	protein_coding	YES	CCDS1099.1	ENSP00000357362	P49746		UPI000013776E	NM_007112.4	tolerated(0.29)	benign(0.001)	18/23		Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1	8.236e-06	8.248e-06	0	0	0	0	0	0	6.064e-05		PASS	CAGGACGACGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	155198098	155198098	C	T	1	0	0	0	0	1	0	0	0	16288	536	19	1		1	THBS3	1	155198098	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	129128	155198098	93758324	30	1203											
SYT11	23208	BI	GRCh38	chr1	155868221	155868221	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtaggaacctgttggtggaCgcagcagaggctggcctgct	16	10	0	1	rs73002934	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.291C>T	p.=	p.D97D	ENST00000368324	2/4	67	38	29	78			SYT11,synonymous_variant,p.D97D,ENST00000368324,NM_152280.4,c.291C>T,LOW,YES,,,1	T	ENST00000368324	Transcript	synonymous_variant	synonymous_variant	544/5240	291/1296	97/431	D	gaC/gaT	rs73002934	1		1	SYT11	HGNC	HGNC:19239	protein_coding	YES	CCDS1122.1	ENSP00000357307	Q9BT88			NM_152280.4			2/4			0.0016	0.0053	0		0	0.001	0	0.0059	0								LOW	1	SNV	1			1	0.0006095	0.0006095	0.006631	0	0	0	7.492e-05	0	0		panel_of_normals	GTGGACGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	155868221	155868221	C	T	1	0	0	0	0	0	0	0	1	15861	535	19	1		1	SYT11	1	155868221	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	670123	155868221	93088201	31	1204											
RRNAD1	51093	BI	GRCh38	chr1	156734106	156734106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttccactggagaaccCgtgtcagggcagggcccgct	13	14	2	1	rs747351211	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.734C>T	p.Pro245Leu	p.P245L	ENST00000368216	6/8	41	25	16	53			RRNAD1,missense_variant,p.P245L,ENST00000368216,NM_015997.3,c.734C>T,MODERATE,YES,deleterious(0.04),benign(0.003),1;RRNAD1,missense_variant,p.P224L,ENST00000519086,,c.671C>T,MODERATE,,deleterious(0.03),benign(0.003),1;RRNAD1,intron_variant,,ENST00000368218,NM_001142560.1,c.636+586C>T,MODIFIER,,,,1;RRNAD1,intron_variant,,ENST00000476229,,c.267+586C>T,MODIFIER,,,,1;RRNAD1,intron_variant,,ENST00000522237,,c.340+54C>T,MODIFIER,,,,1;MRPL24,downstream_gene_variant,,ENST00000434558,,,MODIFIER,,,,-1;MRPL24,downstream_gene_variant,,ENST00000361531,,,MODIFIER,YES,,,-1;MRPL24,downstream_gene_variant,,ENST00000368211,NM_024540.3&NM_145729.2,,MODIFIER,,,,-1;RRNAD1,downstream_gene_variant,,ENST00000484742,,,MODIFIER,,,,1;MRPL24,downstream_gene_variant,,ENST00000412846,,,MODIFIER,,,,-1;RRNAD1,downstream_gene_variant,,ENST00000524343,,,MODIFIER,,,,1;MRPL24,downstream_gene_variant,,ENST00000420938,,,MODIFIER,,,,-1;RRNAD1,non_coding_transcript_exon_variant,,ENST00000462397,,n.252C>T,MODIFIER,,,,1;RRNAD1,upstream_gene_variant,,ENST00000481920,,,MODIFIER,,,,1;RRNAD1,upstream_gene_variant,,ENST00000497515,,,MODIFIER,,,,1;MRPL24,downstream_gene_variant,,ENST00000478899,,,MODIFIER,,,,-1;RRNAD1,downstream_gene_variant,,ENST00000517871,,,MODIFIER,,,,1	T	ENST00000368216	Transcript	missense_variant	missense_variant	1364/2254	734/1428	245/475	P/L	cCg/cTg	rs747351211	1		1	RRNAD1	HGNC	HGNC:24273	protein_coding	YES	CCDS1154.1	ENSP00000357199	Q96FB5			NM_015997.3	deleterious(0.04)	benign(0.003)	6/8		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	4.118e-05	4.12e-05	0	0	0	0	7.495e-05	0	0		panel_of_normals	GAACCCGTGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	156734106	156734106	C	T	1	0	0	0	0	1	0	0	0	13939	652	23	2		2	RRNAD1	1	156734106	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	865885	156734106	92222316	32	1205											
ARHGEF11	9826	BI	GRCh38	chr1	156937459	156937459	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggtcggtgcttgagtcCgggggtcctgatggcatgct	18	8	0	2	rs748039263	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4110G>A	p.=	p.P1370P	ENST00000361409	38/40	34	31	3	73			ARHGEF11,synonymous_variant,p.P1410P,ENST00000368194,NM_198236.2,c.4230G>A,LOW,YES,,,-1;ARHGEF11,synonymous_variant,p.P1370P,ENST00000361409,NM_014784.3,c.4110G>A,LOW,,,,-1;LRRC71,downstream_gene_variant,,ENST00000337428,NM_144702.2,,MODIFIER,YES,,,1;MIR765,upstream_gene_variant,,ENST00000390226,,,MODIFIER,YES,,,-1;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000487682,,n.3182G>A,MODIFIER,,,,-1;ARHGEF11,non_coding_transcript_exon_variant,,ENST00000492592,,n.464G>A,MODIFIER,,,,-1;LRRC71,downstream_gene_variant,,ENST00000490146,,,MODIFIER,,,,1;LRRC71,downstream_gene_variant,,ENST00000476550,,,MODIFIER,,,,1;LRRC71,downstream_gene_variant,,ENST00000472465,,,MODIFIER,,,,1	T	ENST00000361409	Transcript	synonymous_variant	synonymous_variant	4853/5788	4110/4569	1370/1522	P	ccG/ccA	rs748039263	1		-1	ARHGEF11	HGNC	HGNC:14580	protein_coding		CCDS1162.1	ENSP00000354644	O15085		UPI000007027F	NM_014784.3			38/40																			LOW		SNV	1			1	0.0001408	0.0001531	9.802e-05	0.0006094	0	0.0003025	0.0001092	0	0		PASS	GAGTCCGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	2	4	80	156937459	156937459	C	T	1	0	0	0	0	0	0	0	1	1026	639	23	2		2	ARHGEF11	1	156937459	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	203353	156937459	92018963	33	1206											
KIRREL	55243	BI	GRCh38	chr1	158078073	158078073	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgctgagctctctgacgaCgcctcttacgagtgccaggc	12	13	2	2	rs746915018	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.285C>T	p.=	p.D95D	ENST00000359209	3/15	104	54	50	108			KIRREL,synonymous_variant,p.D34D,ENST00000360089,,c.102C>T,LOW,,,,1;KIRREL,synonymous_variant,p.D95D,ENST00000359209,NM_018240.6,c.285C>T,LOW,YES,,,1;KIRREL,intron_variant,,ENST00000368173,NM_001286349.1,c.53-6349C>T,MODIFIER,,,,1	T	ENST00000359209	Transcript	synonymous_variant	synonymous_variant	352/2874	285/2274	95/757	D	gaC/gaT	rs746915018	1		1	KIRREL	HGNC	HGNC:15734	protein_coding	YES	CCDS1172.2	ENSP00000352138	Q96J84		UPI0000443FBD	NM_018240.6			3/15		Pfam_domain:PF07679;Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	LOW	1	SNV	1			1	4.118e-05	4.119e-05	9.61e-05	0	0.0002311	0	2.998e-05	0	0		PASS	GACGACGCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	158078073	158078073	C	T	1	0	0	0	0	0	0	0	1	8188	535	19	1		1	KIRREL	1	158078073	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1140614	158078073	90878349	34	1207											
ATP1A2	477	BI	GRCh38	chr1	160135874	160135874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacttgaagaaatccatcGcctacaccctgaccagcaac	5	15	0	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2320G>A	p.Ala774Thr	p.A774T	ENST00000361216	17/23	88	65	23	152			ATP1A2,missense_variant,p.A774T,ENST00000361216,NM_000702.3,c.2320G>A,MODERATE,YES,deleterious(0.04),benign(0.227),1;ATP1A2,missense_variant,p.A485T,ENST00000447527,,c.1452G>A,MODERATE,,deleterious(0.03),benign(0.078),1;ATP1A2,missense_variant,p.A774T,ENST00000392233,,c.2320G>A,MODERATE,,deleterious(0.04),benign(0.154),1;ATP1A2,upstream_gene_variant,,ENST00000459972,,,MODIFIER,,,,1;ATP1A2,non_coding_transcript_exon_variant,,ENST00000472488,,n.2423G>A,MODIFIER,,,,1;ATP1A2,upstream_gene_variant,,ENST00000463989,,,MODIFIER,,,,1	A	ENST00000361216	Transcript	missense_variant	missense_variant	2409/5421	2320/3063	774/1020	A/T	Gcc/Acc		1		1	ATP1A2	HGNC	HGNC:800	protein_coding	YES	CCDS1196.1	ENSP00000354490	P50993		UPI0000124FC1	NM_000702.3	deleterious(0.04)	benign(0.227)	17/23		TIGRFAM_domain:TIGR01106;TIGRFAM_domain:TIGR01494;Superfamily_domains:SSF81665																	MODERATE	1	SNV	1			1											PASS	CCATCGCCTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4806973	True	Unknown	A	3	1	80	160135874	160135874	G	A	1	0	0	0	0	1	0	0	0	1281	1087	38	2		2	ATP1A2	1	160135874	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2057801	160135874	88820548	35	1208											
NOS1AP	9722	BI	GRCh38	chr1	162367162	162367162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcattcgccgccgctgggcGcgggcttggctgactttgcc	15	14	0	1	rs760300331	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1216G>A	p.Ala406Thr	p.A406T	ENST00000361897	10/10	84	51	33	106			NOS1AP,missense_variant,p.A111T,ENST00000493151,NM_001126060.1,c.331G>A,MODERATE,,tolerated(0.59),benign(0.176),1;NOS1AP,missense_variant,p.A406T,ENST00000361897,NM_014697.2,c.1216G>A,MODERATE,YES,tolerated_low_confidence(0.65),benign(0.005),1;NOS1AP,missense_variant,p.A401T,ENST00000530878,NM_001164757.1,c.1201G>A,MODERATE,,tolerated(0.63),benign(0.036),1;NOS1AP,missense_variant,p.A62T,ENST00000464284,,c.184G>A,MODERATE,,tolerated_low_confidence(0.73),benign(0.005),1;RP11-565P22.6,missense_variant,p.A62T,ENST00000431696,,c.184G>A,MODERATE,YES,tolerated(0.7),benign(0.054),1;C1orf226,5_prime_UTR_variant,,ENST00000420220,,c.-54G>A,MODIFIER,,,,1;NOS1AP,non_coding_transcript_exon_variant,,ENST00000454693,,n.140G>A,MODIFIER,,,,1;NOS1AP,3_prime_UTR_variant,,ENST00000430120,,c.*264G>A,MODIFIER,,,,1;RP11-565P22.6,upstream_gene_variant,,ENST00000367932,,,MODIFIER,,,,1	A	ENST00000361897	Transcript	missense_variant	missense_variant	1618/4931	1216/1521	406/506	A/T	Gcg/Acg	rs760300331	1		1	NOS1AP	HGNC	HGNC:16859	protein_coding	YES	CCDS1237.1	ENSP00000355133	O75052		UPI000019C573	NM_014697.2	tolerated_low_confidence(0.65)	benign(0.005)	10/10																			MODERATE	1	SNV	1			1	8.238e-06	8.299e-06	0	8.663e-05	0	0	0	0	0		PASS	TGGGCGCGGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	162367162	162367162	G	A	1	0	0	0	0	1	0	0	0	10587	1087	38	2		2	NOS1AP	1	162367162	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2231288	162367162	86589260	36	1209											
GPA33	10223	BI	GRCh38	chr1	167055070	167055070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataatgagggctgcaaccaCgcccaccgcgatgcccacat	10	15	0	1	rs767074475		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.733G>A	p.Val245Met	p.V245M	ENST00000367868	6/7	24	18	6	53			GPA33,missense_variant,p.V245M,ENST00000367868,NM_005814.1,c.733G>A,MODERATE,YES,deleterious(0.03),benign(0.127),-1;RP11-102C16.3,intron_variant,,ENST00000417644,,n.216+2304C>T,MODIFIER,YES,,,1;GPA33,non_coding_transcript_exon_variant,,ENST00000527955,,n.824G>A,MODIFIER,,,,-1	T	ENST00000367868	Transcript	missense_variant	missense_variant	1077/2802	733/960	245/319	V/M	Gtg/Atg	rs767074475	1		-1	GPA33	HGNC	HGNC:4445	protein_coding	YES	CCDS1258.1	ENSP00000356842	Q99795		UPI000012502D	NM_005814.1	deleterious(0.03)	benign(0.127)	6/7		Transmembrane_helices:Tmhmm;Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	8.236e-06	8.248e-06	0	0	0	0	1.501e-05	0	0		PASS	AACCACGCCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	167055070	167055070	C	T	1	0	0	0	0	1	0	0	0	6481	536	19	1		1	GPA33	1	167055070	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4687908	167055070	81901352	37	1210											
FMO3	2328	BI	GRCh38	chr1	171117113	171117113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctccaggtttggcaaaagcGagaccatacagacagattac	9	10	1	3	rs751472166		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1270G>A	p.Glu424Lys	p.E424K	ENST00000367755	9/9	47	18	29	50			FMO3,missense_variant,p.E424K,ENST00000367755,NM_001002294.2&NM_006894.5,c.1270G>A,MODERATE,YES,tolerated(0.37),benign(0.003),1	A	ENST00000367755	Transcript	missense_variant	missense_variant	1381/2087	1270/1599	424/532	E/K	Gag/Aag	rs751472166	1		1	FMO3	HGNC	HGNC:3771	protein_coding	YES	CCDS1292.1	ENSP00000356729	P31513	A0A024R8Z4	UPI000016A103	NM_001002294.2;NM_006894.5	tolerated(0.37)	benign(0.003)	9/9		Pfam_domain:PF00743;Prints_domain:PR01123;Prints_domain:PR01122;Superfamily_domains:SSF51905;PIRSF_domain:PIRSF000332																	MODERATE	1	SNV	1			1	8.236e-06	8.244e-06	0	8.667e-05	0	0	0	0	0		PASS	AAAGCGAGACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1689161	True	Unknown	A	3	1	80	171117113	171117113	G	A	1	0	0	0	0	1	0	0	0	5812	1059	37	2		2	FMO3	1	171117113	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4062043	171117113	77839309	38	1211											
FMO2	2327	BI	GRCh38	chr1	171205611	171205611	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgctgaacttcaagctcGttgggtgacaagagttttca	10	8	2	3	rs187393653	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1160G>A	p.Arg387His	p.R387H	ENST00000209929	7/9	35	19	16	36			FMO2,missense_variant,p.R387H,ENST00000629548,NM_001460.3,c.1160G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.94),1;FMO2,missense_variant,p.R387H,ENST00000209929,,c.1160G>A,MODERATE,,deleterious(0.01),probably_damaging(0.988),1;RP1-127D3.4,intron_variant,,ENST00000422841,,n.289-1623C>T,MODIFIER,YES,,,-1;RP1-127D3.4,intron_variant,,ENST00000445909,,n.76-1623C>T,MODIFIER,,,,-1;RP1-127D3.4,intron_variant,,ENST00000445290,,n.139-6096C>T,MODIFIER,,,,-1;FMO2,downstream_gene_variant,,ENST00000489354,,,MODIFIER,,,,1;FMO2,3_prime_UTR_variant,,ENST00000529935,,c.*483G>A,MODIFIER,,,,1;FMO2,upstream_gene_variant,,ENST00000488431,,,MODIFIER,,,,1	A	ENST00000209929	Transcript	missense_variant	missense_variant	1318/3851	1160/1608	387/535	R/H	cGt/cAt	rs187393653	1		1	FMO2	HGNC	HGNC:3770	protein_coding			ENSP00000209929	Q99518		UPI0000ED9123		deleterious(0.01)	probably_damaging(0.988)	7/9		Pfam_domain:PF00743;Prints_domain:PR00370;Superfamily_domains:SSF51905;PIRSF_domain:PIRSF000332																	MODERATE		SNV	1			1	5.766e-05	6.083e-05	0.0001009	8.853e-05	0	0	4.652e-05	0	0.000149		PASS	AGCTCGTTGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	171205611	171205611	G	A	1	0	0	0	0	1	0	0	0	5811	1145	40	1		1	FMO2	1	171205611	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	88498	171205611	77750811	39	1212											
ADIPOR1	51094	BI	GRCh38	chr1	202950953	202950953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgggttggcgattacccGtttgcccttctcttctagca	12	11	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.118C>T	p.Arg40Trp	p.R40W	ENST00000340990	2/8	69	41	28	97			ADIPOR1,missense_variant,p.R40W,ENST00000340990,NM_015999.4&NM_001290629.1&NM_001290553.1&NM_001290557.1,c.118C>T,MODERATE,YES,deleterious(0.02),benign(0.153),-1;ADIPOR1,missense_variant,p.R40W,ENST00000367254,,c.118C>T,MODERATE,,deleterious(0.01),probably_damaging(0.928),-1;ADIPOR1,missense_variant,p.R40W,ENST00000417068,,c.118C>T,MODERATE,,deleterious(0.02),benign(0.153),-1;ADIPOR1,missense_variant,p.R40W,ENST00000426229,,c.118C>T,MODERATE,,deleterious(0.02),benign(0.153),-1	A	ENST00000340990	Transcript	missense_variant	missense_variant	417/2177	118/1128	40/375	R/W	Cgg/Tgg		1		-1	ADIPOR1	HGNC	HGNC:24040	protein_coding	YES	CCDS1430.1	ENSP00000341785	Q96A54			NM_015999.4;NM_001290629.1;NM_001290553.1;NM_001290557.1	deleterious(0.02)	benign(0.153)	2/8																			MODERATE	1	SNV	1			1											PASS	TACCCGTTTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	202950953	202950953	G	A	1	0	0	0	0	1	0	0	0	391	1144	40	1		1	ADIPOR1	1	202950953	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31745342	202950953	46005469	40	1213											
CHIT1	1118	BI	GRCh38	chr1	203225707	203225707	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactcctggtagagagtctcGtcattccactcagtggtgct	10	11	3	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.219C>T	p.=	p.D73D	ENST00000367229	3/11	49	39	10	68			CHIT1,synonymous_variant,p.D73D,ENST00000367229,NM_001270509.1&NM_003465.2,c.219C>T,LOW,YES,,,-1;CHIT1,synonymous_variant,p.D73D,ENST00000255427,NM_001256125.1,c.219C>T,LOW,,,,-1;CHIT1,non_coding_transcript_exon_variant,,ENST00000484834,,n.4576C>T,MODIFIER,,,,-1;CHIT1,non_coding_transcript_exon_variant,,ENST00000513472,,n.415C>T,MODIFIER,,,,-1;CHIT1,upstream_gene_variant,,ENST00000506427,,,MODIFIER,,,,-1;CHIT1,synonymous_variant,p.D73D,ENST00000491855,,c.219C>T,LOW,,,,-1;CHIT1,synonymous_variant,p.D73D,ENST00000503786,,c.219C>T,LOW,,,,-1	A	ENST00000367229	Transcript	synonymous_variant	synonymous_variant	254/2246	219/1401	73/466	D	gaC/gaT		1		-1	CHIT1	HGNC	HGNC:1936	protein_coding	YES	CCDS1436.1	ENSP00000356198	Q13231		UPI00000399C1	NM_001270509.1;NM_003465.2			3/11		Pfam_domain:PF00704;SMART_domains:SM00636;Superfamily_domains:SSF51445																	LOW	1	SNV	1			1											PASS	GTCTCGTCATT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	203225707	203225707	G	A	1	0	0	0	0	0	0	0	1	3105	1136	40	1		1	CHIT1	1	203225707	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	274754	203225707	45730715	41	1214											
CNTN2	6900	BI	GRCh38	chr1	205067175	205067175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatggactatgagttcCgggtcatagccagcaacatt	11	10	1	1	rs756558390		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2050C>T	p.Arg684Trp	p.R684W	ENST00000331830	16/23	65	58	7	99			CNTN2,missense_variant,p.R684W,ENST00000331830,NM_005076.3,c.2050C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;AL583832.1,downstream_gene_variant,,ENST00000515887,,,MODIFIER,YES,,,1;CNTN2,non_coding_transcript_exon_variant,,ENST00000481872,,n.2042C>T,MODIFIER,,,,1;CNTN2,downstream_gene_variant,,ENST00000530117,,,MODIFIER,,,,1;CNTN2,upstream_gene_variant,,ENST00000525433,,,MODIFIER,,,,1;CNTN2,downstream_gene_variant,,ENST00000527340,,,MODIFIER,,,,1;CNTN2,downstream_gene_variant,,ENST00000530594,,,MODIFIER,,,,1	T	ENST00000331830	Transcript	missense_variant	missense_variant	2334/8141	2050/3123	684/1040	R/W	Cgg/Tgg	rs756558390	1		1	CNTN2	HGNC	HGNC:2172	protein_coding	YES	CCDS1449.1	ENSP00000330633	Q02246	A0A024R9B4	UPI00001266A5	NM_005076.3	deleterious(0)	probably_damaging(0.994)	16/23		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1	8.236e-06	8.252e-06	0	0	0	0	1.501e-05	0	0		PASS	AGTTCCGGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	205067175	205067175	C	T	1	0	0	0	0	1	0	0	0	3422	643	23	2		2	CNTN2	1	205067175	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1841468	205067175	43889247	42	1215											
CENPF	1063	BI	GRCh38	chr1	214642777	214642777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatccctgtcatcctcttGtgtgcctgacagctctagtc	7	15	3	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4439G>A	p.Cys1480Tyr	p.C1480Y	ENST00000366955	12/20	38	19	19	67			CENPF,missense_variant,p.C1480Y,ENST00000366955,NM_016343.3,c.4439G>A,MODERATE,YES,,possibly_damaging(0.66),1	A	ENST00000366955	Transcript	missense_variant	missense_variant	4607/10307	4439/9345	1480/3114	C/Y	tGt/tAt		1		1	CENPF	HGNC	HGNC:1857	protein_coding	YES	CCDS31023.1	ENSP00000355922	P49454		UPI00001AE985	NM_016343.3		possibly_damaging(0.66)	12/20		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CTCTTGTGTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	214642777	214642777	G	A	1	0	0	0	0	1	0	0	0	2939	1377	48	3		3	CENPF	1	214642777	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9575602	214642777	34313645	43	1216											
OBSCN	84033	BI	GRCh38	chr1	228317745	228317745	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctgccccagacagtgCggcttggtgagttgcttcat	11	12	2	2	rs528758181	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.13843C>T	p.Arg4615Trp	p.R4615W	ENST00000422127	52/105	57	29	28	67			OBSCN,missense_variant,p.R5572W,ENST00000366707,,c.16714C>T,MODERATE,,,probably_damaging(0.981),1;OBSCN,missense_variant,p.R5572W,ENST00000570156,NM_001271223.2,c.16714C>T,MODERATE,YES,,probably_damaging(0.978),1;OBSCN,missense_variant,p.R4615W,ENST00000422127,NM_001098623.2,c.13843C>T,MODERATE,,,possibly_damaging(0.551),1;OBSCN,missense_variant,p.R4615W,ENST00000284548,NM_052843.3,c.13843C>T,MODERATE,,,probably_damaging(0.927),1;OBSCN,intron_variant,,ENST00000483539,,c.4693+13292C>T,MODIFIER,,,,1	T	ENST00000422127	Transcript	missense_variant	missense_variant	13917/24060	13843/23907	4615/7968	R/W	Cgg/Tgg	rs528758181	1		1	OBSCN	HGNC	HGNC:15719	protein_coding		CCDS58065.1	ENSP00000409493	Q5VST9		UPI0001838884	NM_001098623.2		possibly_damaging(0.551)	52/105		Superfamily_domains:SSF49265	2e-04	0	0		0	0.001	0										MODERATE		SNV	5			1	2.49e-05	2.581e-05	0.0001151	0	0	0	1.569e-05	0	6.116e-05		PASS	CAGTGCGGCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	228317745	228317745	C	T	1	0	0	0	0	1	0	0	0	10889	759	27	2		2	OBSCN	1	228317745	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13674968	228317745	20638677	44	1217											
GALNT2	2590	BI	GRCh38	chr1	230236034	230236034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagcggaagcagtggcGggtggatctgccggccacca	17	11	2	0	rs151140953	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.395G>A	p.Arg132Gln	p.R132Q	ENST00000366672	4/16	26	18	8	27			GALNT2,missense_variant,p.R132Q,ENST00000366672,NM_004481.3&NM_001291866.1,c.395G>A,MODERATE,YES,tolerated(0.63),benign(0.005),1;GALNT2,non_coding_transcript_exon_variant,,ENST00000494106,,n.358G>A,MODIFIER,,,,1	A	ENST00000366672	Transcript	missense_variant	missense_variant	467/4454	395/1716	132/571	R/Q	cGg/cAg	rs151140953	1		1	GALNT2	HGNC	HGNC:4124	protein_coding	YES	CCDS1582.1	ENSP00000355632	Q10471		UPI0000074053	NM_004481.3;NM_001291866.1	tolerated(0.63)	benign(0.005)	4/16		Superfamily_domains:SSF53448								2e-04	0								MODERATE	1	SNV	1			1	2.471e-05	2.526e-05	0	0	0	0	3.056e-05	0	6.136e-05		PASS	GTGGCGGGTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	230236034	230236034	G	A	1	0	0	0	0	1	0	0	0	6084	1116	39	2		2	GALNT2	1	230236034	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1918289	230236034	18720388	45	1218											
GALNT2	2590	BI	GRCh38	chr1	230255312	230255312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaagcagcacccctacacGttcccgggtggcagtggcac	13	15	0	0	rs75919037	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1104G>A	p.=	p.T368T	ENST00000366672	11/16	50	40	10	53			GALNT2,synonymous_variant,p.T368T,ENST00000366672,NM_004481.3&NM_001291866.1,c.1104G>A,LOW,YES,,,1;RP5-956O18.2,downstream_gene_variant,,ENST00000440729,,,MODIFIER,YES,,,-1;GALNT2,upstream_gene_variant,,ENST00000485438,,,MODIFIER,,,,1	A	ENST00000366672	Transcript	synonymous_variant	synonymous_variant	1176/4454	1104/1716	368/571	T	acG/acA	rs75919037	1		1	GALNT2	HGNC	HGNC:4124	protein_coding	YES	CCDS1582.1	ENSP00000355632	Q10471		UPI0000074053	NM_004481.3;NM_001291866.1			11/16		Superfamily_domains:SSF53448	0.002	0.0076	0		0	0	0	0.0095	0								LOW	1	SNV	1			1	0.0008154	0.0008155	0.008553	0.0006046	0	0	2.997e-05	0.001101	0		panel_of_normals	TACACGTTCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	230255312	230255312	G	A	1	0	0	0	0	0	0	0	1	6084	1132	40	1		1	GALNT2	1	230255312	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19278	230255312	18701110	46	1219											
COG2	22796	BI	GRCh38	chr1	230683588	230683588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagatttagagaaatagCgggatccttagaagcagcac	10	8	1	3	rs753073596	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1181C>T	p.Ala394Val	p.A394V	ENST00000366669	11/18	72	44	28	93			COG2,missense_variant,p.A335V,ENST00000534989,,c.1004C>T,MODERATE,,deleterious(0.03),benign(0.406),1;COG2,missense_variant,p.A394V,ENST00000366669,NM_007357.2,c.1181C>T,MODERATE,YES,deleterious(0.03),benign(0.406),1;COG2,missense_variant,p.A394V,ENST00000366668,NM_001145036.1,c.1181C>T,MODERATE,,deleterious(0.03),benign(0.406),1;COG2,upstream_gene_variant,,ENST00000490900,,,MODIFIER,,,,1;COG2,upstream_gene_variant,,ENST00000482012,,,MODIFIER,,,,1;COG2,3_prime_UTR_variant,,ENST00000468893,,c.*1039C>T,MODIFIER,,,,1;COG2,downstream_gene_variant,,ENST00000494371,,,MODIFIER,,,,1	T	ENST00000366669	Transcript	missense_variant	missense_variant	1296/2921	1181/2217	394/738	A/V	gCg/gTg	rs753073596	1		1	COG2	HGNC	HGNC:6546	protein_coding	YES	CCDS1584.1	ENSP00000355629	Q14746	B1ALW7	UPI0000127E38	NM_007357.2	deleterious(0.03)	benign(0.406)	11/18																			MODERATE	1	SNV	1			1	2.471e-05	2.472e-05	0	0	0.0001156	0	1.499e-05	0	6.056e-05		PASS	AATAGCGGGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5447023	True	Unknown	T	3	4	80	230683588	230683588	C	T	1	0	0	0	0	1	0	0	0	3446	768	27	2		2	COG2	1	230683588	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	428276	230683588	18272834	47	1220											
SLC35F3	148641	BI	GRCh38	chr1	234231557	234231557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctggggcgtggcggtcGtgctgtgcgtgtgctcctcg	17	11	2	0	rs530447111	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.217G>A	p.Val73Met	p.V73M	ENST00000366617	2/7	125	68	57	156			SLC35F3,missense_variant,p.V142M,ENST00000366618,NM_173508.2,c.424G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.985),1;SLC35F3,missense_variant,p.V73M,ENST00000366617,NM_001300845.1,c.217G>A,MODERATE,,deleterious(0.01),probably_damaging(0.923),1	A	ENST00000366617	Transcript	missense_variant	missense_variant	445/2762	217/1266	73/421	V/M	Gtg/Atg	rs530447111	1		1	SLC35F3	HGNC	HGNC:23616	protein_coding		CCDS73050.1	ENSP00000355576	Q8IY50		UPI00001AF636	NM_001300845.1	deleterious(0.01)	probably_damaging(0.923)	2/7		Transmembrane_helices:Tmhmm	2e-04	8e-04	0		0	0	0										MODERATE		SNV	1			1	1.647e-05	1.652e-05	9.647e-05	0	0	0	1.505e-05	0	0		PASS	CGGTCGTGCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	234231557	234231557	G	A	1	0	0	0	0	1	0	0	0	14861	1145	40	1		1	SLC35F3	1	234231557	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3547969	234231557	14724865	48	1221											
LYST	1130	BI	GRCh38	chr1	235664617	235664617	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaggtcactgcctccGccagctaaaacacccaaatc	7	15	2	1	rs757560834	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.11043C>T	p.=	p.G3681G	ENST00000389793	51/53	48	39	9	50			LYST,synonymous_variant,p.G3681G,ENST00000389793,NM_000081.3&NM_001301365.1,c.11043C>T,LOW,YES,,,-1;LYST,3_prime_UTR_variant,,ENST00000389794,,c.*6467C>T,MODIFIER,,,,-1;LYST,non_coding_transcript_exon_variant,,ENST00000473037,,n.6033C>T,MODIFIER,,,,-1	A	ENST00000389793	Transcript	synonymous_variant	synonymous_variant	11218/13480	11043/11406	3681/3801	G	ggC/ggT	rs757560834	1		-1	LYST	HGNC	HGNC:1968	protein_coding	YES	CCDS31062.1	ENSP00000374443	Q99698		UPI000020509E	NM_000081.3;NM_001301365.1			51/53		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	LOW	1	SNV	5			1	2.471e-05	2.494e-05	0	0	0	0	0	0	0.0001828		PASS	CCTCCGCCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	235664617	235664617	G	A	1	0	0	0	0	0	0	0	1	9041	1101	38	2		2	LYST	1	235664617	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1433060	235664617	13291805	49	1222											
RYR2	6262	BI	GRCh38	chr1	237707047	237707047	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattagccgagtccggcattCgctacactcaaatgccacat	7	13	1	0	rs747271394		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.9679C>T	p.Arg3227Cys	p.R3227C	ENST00000366574	68/105	66	30	36	85			RYR2,missense_variant,p.R3227C,ENST00000366574,NM_001035.2,c.9679C>T,MODERATE,YES,,possibly_damaging(0.75),1;RYR2,missense_variant,p.R3211C,ENST00000360064,,c.9631C>T,MODERATE,,,benign(0.34),1;RYR2,non_coding_transcript_exon_variant,,ENST00000609119,,n.817C>T,MODIFIER,,,,1	T	ENST00000366574	Transcript	missense_variant	missense_variant	9996/16562	9679/14904	3227/4967	R/C	Cgc/Tgc	rs747271394	1		1	RYR2	HGNC	HGNC:10484	protein_coding	YES	CCDS55691.1	ENSP00000355533	Q92736		UPI0000DD0308	NM_001035.2		possibly_damaging(0.75)	68/105																			MODERATE	1	SNV	1			1	8.269e-06	8.284e-06	0	0	0	0	1.499e-05	0	0		PASS	GCATTCGCTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM906241	True	Unknown	T	3	4	80	237707047	237707047	C	T	1	0	0	0	0	1	0	0	0	14029	884	31	2		2	RYR2	1	237707047	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2042430	237707047	11249375	50	1223											
GREB1	9687	BI	GRCh38	chr2	11634329	11634329	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtggacctgacccagaaCgtgcagtacaaccagaaccg	10	13	0	3	rs368127534	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5190C>T	p.=	p.N1730N	ENST00000234142	28/32	12	7	5	29			GREB1,synonymous_variant,p.N1730N,ENST00000381486,NM_014668.3,c.5190C>T,LOW,YES,,,1;GREB1,synonymous_variant,p.N1730N,ENST00000234142,,c.5190C>T,LOW,,,,1;GREB1,synonymous_variant,p.N728N,ENST00000396123,,c.2184C>T,LOW,,,,1	T	ENST00000234142	Transcript	synonymous_variant	synonymous_variant	5452/8444	5190/5850	1730/1949	N	aaC/aaT	rs368127534	1		1	GREB1	HGNC	HGNC:24885	protein_coding		CCDS42655.1	ENSP00000234142	Q4ZG55		UPI0000163937				28/32																			LOW		SNV	2			1	8.257e-06	8.86e-06	0	0	0	0	0	0.001193	0		PASS	CAGAACGTGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM1494620	True	Unknown	T	2	4	80	11634329	11634329	C	T	1	0	0	0	0	0	0	0	1	6639	535	19	1		1	GREB1	2	11634329	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		11634329	230559200	51	1224											
EIF2AK2	5610	BI	GRCh38	chr2	37122654	37122654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaatgcttttacttcacGctccgccttcctagttaaaa	5	13	1	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.919C>T	p.Arg307Cys	p.R307C	ENST00000233057	12/17	46	26	20	72			EIF2AK2,missense_variant,p.R307C,ENST00000233057,,c.919C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;EIF2AK2,missense_variant,p.R307C,ENST00000395127,NM_002759.3&NM_001135651.2,c.919C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;EIF2AK2,missense_variant,p.R266C,ENST00000405334,NM_001135652.2,c.796C>T,MODERATE,,deleterious(0),probably_damaging(1),-1	A	ENST00000233057	Transcript	missense_variant	missense_variant	1242/10042	919/1656	307/551	R/C	Cgt/Tgt		1		-1	EIF2AK2	HGNC	HGNC:9437	protein_coding	YES	CCDS1786.1	ENSP00000233057	P19525		UPI000000D925		deleterious(0)	probably_damaging(1)	12/17		Coiled-coils_(Ncoils):ncoils;Pfam_domain:PF00069;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	2			1											PASS	TTCACGCTCCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM84586	True	Unknown	A	3	1	80	37122654	37122654	G	A	1	0	0	0	0	1	0	0	0	4833	1087	38	2		2	EIF2AK2	2	37122654	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	25488325	37122654	205070875	52	1225											
STON1	11037	BI	GRCh38	chr2	48582292	48582292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacatggcctcattggcGcagaggtcatcctatgctgg	12	11	3	1	rs370458736	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1659G>A	p.=	p.A553A	ENST00000404752	2/4	78	46	32	95			STON1,synonymous_variant,p.A553A,ENST00000406226,NM_001198595.1,c.1659G>A,LOW,YES,,,1;STON1,synonymous_variant,p.A553A,ENST00000404752,NM_006873.3,c.1659G>A,LOW,,,,1;STON1-GTF2A1L,synonymous_variant,p.A553A,ENST00000394754,NM_172311.2,c.1659G>A,LOW,YES,,,1;STON1-GTF2A1L,synonymous_variant,p.A553A,ENST00000405008,,c.1659G>A,LOW,,,,1;STON1-GTF2A1L,synonymous_variant,p.A553A,ENST00000402114,NM_001198593.1,c.1659G>A,LOW,,,,1;STON1-GTF2A1L,synonymous_variant,p.A553A,ENST00000309827,,c.1659G>A,LOW,,,,1;STON1-GTF2A1L,synonymous_variant,p.A553A,ENST00000394751,NM_001198594.1,c.1659G>A,LOW,,,,1;STON1,upstream_gene_variant,,ENST00000444932,,,MODIFIER,,,,1	A	ENST00000404752	Transcript	synonymous_variant	synonymous_variant	1752/5511	1659/2208	553/735	A	gcG/gcA	rs370458736	1		1	STON1	HGNC	HGNC:17003	protein_coding		CCDS1841.1	ENSP00000385273	Q9Y6Q2		UPI000006E627	NM_006873.3			2/4		Pfam_domain:PF00928;PROSITE_profiles:PS51072;Superfamily_domains:SSF49447;PIRSF_domain:PIRSF037099								0	1e-04								LOW		SNV	1			1	4.942e-05	4.942e-05	9.61e-05	0	0.0001156	0.0001512	4.495e-05	0	0		PASS	TTGGCGCAGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4094499;COSM4094500	True	Unknown	A	2	1	80	48582292	48582292	G	A	1	0	0	0	0	0	0	0	1	15695	1074	38	2		2	STON1	2	48582292	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11459638	48582292	193611237	53	1226											
ALMS1	7840	BI	GRCh38	chr2	73601358	73601358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggggcagcacctggaCggtcggggctacctggcagg	18	11	1	0	rs370981817	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.12036C>T	p.=	p.D4012D	ENST00000613296	19/23	42	37	5	60			ALMS1,synonymous_variant,p.D4012D,ENST00000613296,NM_015120.4,c.12036C>T,LOW,YES,,,1;ALMS1,synonymous_variant,p.D3970D,ENST00000484298,,c.11910C>T,LOW,,,,1;ALMS1,non_coding_transcript_exon_variant,,ENST00000464408,,n.211C>T,MODIFIER,,,,1;ALMS1,upstream_gene_variant,,ENST00000490821,,,MODIFIER,,,,1;ALMS1,non_coding_transcript_exon_variant,,ENST00000620466,,n.5839C>T,MODIFIER,,,,1	T	ENST00000613296	Transcript	synonymous_variant	synonymous_variant	12147/12925	12036/12507	4012/4168	D	gaC/gaT	rs370981817	1		1	ALMS1	HGNC	HGNC:428	protein_coding	YES	CCDS42697.1	ENSP00000482968		A0A087WZY3	UPI00046209B2	NM_015120.4			19/23										0	1e-04								LOW	1	SNV	1			1	7.414e-05	7.453e-05	0	0	0.0002313	0	4.499e-05	0	0.0002423		PASS	CTGGACGGTCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	73601358	73601358	C	T	1	0	0	0	0	0	0	0	1	635	535	19	1		1	ALMS1	2	73601358	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25019066	73601358	168592171	54	1227											
DUSP11	8446	BI	GRCh38	chr2	73774981	73774981	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttcttcattttgttctcGgattttgttaaaaagatcca	6	6	3	1	rs754705080	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.382C>T	p.Arg128Ter	p.R128*	ENST00000272444	3/9	31	14	17	54			DUSP11,stop_gained,p.R128*,ENST00000443070,,c.382C>T,HIGH,,,,-1;DUSP11,stop_gained,p.R128*,ENST00000272444,NM_003584.2,c.382C>T,HIGH,YES,,,-1;DUSP11,stop_gained,p.R79*,ENST00000452812,,c.235C>T,HIGH,,,,-1;DUSP11,non_coding_transcript_exon_variant,,ENST00000480948,,n.145C>T,MODIFIER,,,,-1;DUSP11,non_coding_transcript_exon_variant,,ENST00000477458,,n.252C>T,MODIFIER,,,,-1	A	ENST00000272444	Transcript	stop_gained	stop_gained	424/1653	382/1134	128/377	R/*	Cga/Tga	rs754705080	1		-1	DUSP11	HGNC	HGNC:3066	protein_coding	YES	CCDS1928.2	ENSP00000272444	O75319		UPI0000EE25F4	NM_003584.2			3/9		SMART_domains:SM00195;Superfamily_domains:SSF52799																	HIGH	1	SNV	1			1	8.237e-06	8.258e-06	0	0	0	0	1.502e-05	0	0		PASS	TTCTCGGATTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1022860;COSM4873993	True	Unknown	A	4	1	80	73774981	73774981	G	A	1	0	0	0	0	0	1	0	0	4633	1124	39	2		2	DUSP11	2	73774981	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	173623	73774981	168418548	55	1228											
DCTN1	1639	BI	GRCh38	chr2	74366609	74366609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcctgcagtctaggagCgtgtcagatacctgtgtgcc	12	10	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2478G>A	p.=	p.T826T	ENST00000361874	22/32	139	85	54	188			DCTN1,synonymous_variant,p.T826T,ENST00000361874,NM_004082.4,c.2478G>A,LOW,YES,,,-1;DCTN1,synonymous_variant,p.T809T,ENST00000628224,,c.2427G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T819T,ENST00000394003,NM_001190837.1,c.2457G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T789T,ENST00000409240,NM_001190836.1,c.2367G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T809T,ENST00000409868,,c.2427G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T692T,ENST00000409438,NM_023019.3&NM_001135041.2,c.2076G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T806T,ENST00000409567,NM_001135040.2,c.2418G>A,LOW,,,,-1;DCTN1,intron_variant,,ENST00000495643,,n.494+174G>A,MODIFIER,,,,-1;DCTN1,intron_variant,,ENST00000497666,,n.96+2691G>A,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000463583,,,MODIFIER,,,,-1;DCTN1,synonymous_variant,p.T789T,ENST00000434055,,c.2367G>A,LOW,,,,-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,,n.3457G>A,MODIFIER,,,,-1;RP11-287D1.3,upstream_gene_variant,,ENST00000451608,,,MODIFIER,YES,,,-1;DCTN1,upstream_gene_variant,,ENST00000491465,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000477966,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000470351,,,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000495895,,,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000492717,,,MODIFIER,,,,-1	T	ENST00000361874	Transcript	synonymous_variant	synonymous_variant	2796/4500	2478/3837	826/1278	T	acG/acA		1		-1	DCTN1	HGNC	HGNC:2711	protein_coding	YES	CCDS1939.1	ENSP00000354791	Q14203		UPI0000129A25	NM_004082.4			22/32		Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	AGGAGCGTGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	74366609	74366609	C	T	1	0	0	0	0	0	0	0	1	4109	755	27	2		2	DCTN1	2	74366609	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	591628	74366609	167826920	56	1229											
DCTN1	1639	BI	GRCh38	chr2	74369357	74369357	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctggtagtctgcaacCgtctcctgggctgcctccac	11	15	3	0	rs777762235		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1527G>A	p.=	p.T509T	ENST00000361874	14/32	31	24	7	50			DCTN1,synonymous_variant,p.T509T,ENST00000361874,NM_004082.4,c.1527G>A,LOW,YES,,,-1;DCTN1,synonymous_variant,p.T492T,ENST00000628224,,c.1476G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T502T,ENST00000394003,NM_001190837.1,c.1506G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T472T,ENST00000409240,NM_001190836.1,c.1416G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T492T,ENST00000409868,,c.1476G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T375T,ENST00000409438,NM_023019.3&NM_001135041.2,c.1125G>A,LOW,,,,-1;DCTN1,synonymous_variant,p.T489T,ENST00000409567,NM_001135040.2,c.1467G>A,LOW,,,,-1;DCTN1,downstream_gene_variant,,ENST00000458655,,,MODIFIER,,,,-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000497666,,n.39G>A,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000495643,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000463583,,,MODIFIER,,,,-1;DCTN1,synonymous_variant,p.T472T,ENST00000434055,,c.1416G>A,LOW,,,,-1;DCTN1,non_coding_transcript_exon_variant,,ENST00000466110,,n.1748G>A,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000491465,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000477966,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000470351,,,MODIFIER,,,,-1;DCTN1,upstream_gene_variant,,ENST00000495895,,,MODIFIER,,,,-1;DCTN1,downstream_gene_variant,,ENST00000462813,,,MODIFIER,,,,-1	T	ENST00000361874	Transcript	synonymous_variant	synonymous_variant	1845/4500	1527/3837	509/1278	T	acG/acA	rs777762235	1		-1	DCTN1	HGNC	HGNC:2711	protein_coding	YES	CCDS1939.1	ENSP00000354791	Q14203		UPI0000129A25	NM_004082.4			14/32		Coiled-coils_(Ncoils):ncoils;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1	8.236e-06	8.24e-06	0	0	0	0	1.499e-05	0	0		PASS	GCAACCGTCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	74369357	74369357	C	T	1	0	0	0	0	0	0	0	1	4109	639	23	2		2	DCTN1	2	74369357	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2748	74369357	167824172	57	1230											
BUB1	699	BI	GRCh38	chr2	110655794	110655794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtggaatggtgtagaCgcaagttgtgcagcagatgt	15	5	0	2	rs772143908	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1821G>A	p.=	p.A607A	ENST00000302759	16/25	125	113	12	145			BUB1,synonymous_variant,p.A587A,ENST00000535254,NM_001278616.1,c.1761G>A,LOW,,,,-1;BUB1,synonymous_variant,p.A607A,ENST00000302759,NM_004336.4,c.1821G>A,LOW,YES,,,-1;BUB1,synonymous_variant,p.A607A,ENST00000409311,NM_001278617.1,c.1821G>A,LOW,,,,-1;BUB1,non_coding_transcript_exon_variant,,ENST00000466333,,n.1854G>A,MODIFIER,,,,-1	T	ENST00000302759	Transcript	synonymous_variant	synonymous_variant	1940/3507	1821/3258	607/1085	A	gcG/gcA	rs772143908	1		-1	BUB1	HGNC	HGNC:1148	protein_coding	YES	CCDS33273.1	ENSP00000302530	O43683			NM_004336.4			16/25																			LOW	1	SNV	1			1	1.647e-05	1.648e-05	0	0	0	0	2.997e-05	0	0		PASS	GTAGACGCAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	110655794	110655794	C	T	1	0	0	0	0	0	0	0	1	1746	523	19	1		1	BUB1	2	110655794	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	36286437	110655794	131537735	58	1231											
MERTK	10461	BI	GRCh38	chr2	111947478	111947478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgtcaggctgtgggccCgcctgagcccgtcaacattt	11	15	2	1	rs765685308		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.668C>T	p.Pro223Leu	p.P223L	ENST00000295408	4/19	59	33	26	56			MERTK,missense_variant,p.P223L,ENST00000295408,,c.668C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;MERTK,missense_variant,p.P223L,ENST00000421804,NM_006343.2,c.668C>T,MODERATE,,deleterious(0),probably_damaging(1),1;MERTK,missense_variant,p.P47L,ENST00000409780,,c.140C>T,MODERATE,,deleterious(0),probably_damaging(1),1;MERTK,5_prime_UTR_variant,,ENST00000616902,,c.-548C>T,MODIFIER,,,,1;MERTK,3_prime_UTR_variant,,ENST00000439966,,c.*141C>T,MODIFIER,,,,1;AC104651.3,downstream_gene_variant,,ENST00000447549,,,MODIFIER,YES,,,-1	T	ENST00000295408	Transcript	missense_variant	missense_variant	925/3954	668/3000	223/999	P/L	cCg/cTg	rs765685308	1		1	MERTK	HGNC	HGNC:7027	protein_coding	YES	CCDS2094.1	ENSP00000295408	Q12866		UPI000013E252		deleterious(0)	probably_damaging(1)	4/19		PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1	8.236e-06	8.238e-06	0	0	0	0	1.498e-05	0	0		PASS	GGGCCCGCCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	111947478	111947478	C	T	1	0	0	0	0	1	0	0	0	9424	652	23	2		2	MERTK	2	111947478	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1291684	111947478	130246051	59	1232											
PSD4	23550	BI	GRCh38	chr2	113183214	113183214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaccccctcttcctggCgagtccttgctcagagaaca	8	16	2	1	rs201700173	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.758C>T	p.Ala253Val	p.A253V	ENST00000245796	2/17	46	24	22	71			PSD4,missense_variant,p.A253V,ENST00000441564,,c.758C>T,MODERATE,,deleterious_low_confidence(0),benign(0.002),1;PSD4,missense_variant,p.A253V,ENST00000245796,NM_012455.2,c.758C>T,MODERATE,YES,deleterious_low_confidence(0),benign(0.001),1;PSD4,intron_variant,,ENST00000485525,,n.84-1743C>T,MODIFIER,,,,1;PSD4,downstream_gene_variant,,ENST00000465917,,,MODIFIER,,,,1;PSD4,non_coding_transcript_exon_variant,,ENST00000418251,,n.944C>T,MODIFIER,,,,1;PSD4,upstream_gene_variant,,ENST00000409656,,,MODIFIER,,,,1	T	ENST00000245796	Transcript	missense_variant	missense_variant	953/5188	758/3171	253/1056	A/V	gCg/gTg	rs201700173	1		1	PSD4	HGNC	HGNC:19096	protein_coding	YES	CCDS33276.1	ENSP00000245796	Q8NDX1		UPI00004A0748	NM_012455.2	deleterious_low_confidence(0)	benign(0.001)	2/17																			MODERATE	1	SNV	1			1	2.471e-05	2.471e-05	0	0	0	0	4.496e-05	0	0		PASS	CCTGGCGAGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1005671	True	Unknown	T	3	4	80	113183214	113183214	C	T	1	0	0	0	0	1	0	0	0	12800	768	27	2		2	PSD4	2	113183214	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1235736	113183214	129010315	60	1233											
CNTNAP5	129684	BI	GRCh38	chr2	124446912	124446912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgcaccaagggcgagaCggatgccttagacattgact	11	12	0	3	rs375042758	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.893C>T	p.Thr298Met	p.T298M	ENST00000431078	6/24	42	28	14	48			CNTNAP5,missense_variant,p.T298M,ENST00000431078,NM_130773.3,c.893C>T,MODERATE,YES,tolerated(0.21),possibly_damaging(0.505),1	T	ENST00000431078	Transcript	missense_variant	missense_variant	1257/5284	893/3921	298/1306	T/M	aCg/aTg	rs375042758	1		1	CNTNAP5	HGNC	HGNC:18748	protein_coding	YES	CCDS46401.1	ENSP00000399013	Q8WYK1		UPI0000071988	NM_130773.3	tolerated(0.21)	possibly_damaging(0.505)	6/24		Pfam_domain:PF02210;Pfam_domain:PF00054;PROSITE_profiles:PS50025;SMART_domains:SM00282;Superfamily_domains:SSF49899								0	1e-04								MODERATE	1	SNV	1			1	1.65e-05	1.667e-05	0	0	0	0	3.013e-05	0	0		PASS	CGAGACGGATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM122251	True	Unknown	T	3	4	80	124446912	124446912	C	T	1	0	0	0	0	1	0	0	0	3432	536	19	1		1	CNTNAP5	2	124446912	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11263698	124446912	117746617	61	1234											
IMP4	92856	BI	GRCh38	chr2	130345790	130345790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccagtggggctcatcGtcagccacctgccctttggt	11	17	2	0	rs11542413	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.451G>A	p.Val151Ile	p.V151I	ENST00000259239	6/9	53	24	29	67			IMP4,missense_variant,p.V151I,ENST00000259239,NM_033416.1,c.451G>A,MODERATE,YES,tolerated(0.65),benign(0.05),1;IMP4,missense_variant,p.V151I,ENST00000409935,,c.451G>A,MODERATE,,tolerated(0.67),benign(0.085),1;IMP4,missense_variant,p.V96I,ENST00000428740,,c.286G>A,MODERATE,,tolerated(0.71),benign(0.029),1;IMP4,missense_variant,p.V140I,ENST00000452955,,c.417G>A,MODERATE,,tolerated(0.61),benign(0.063),1;IMP4,missense_variant,p.V66I,ENST00000409649,,c.196G>A,MODERATE,,tolerated(0.72),benign(0.05),1;CCDC115,upstream_gene_variant,,ENST00000259229,NM_032357.3,,MODIFIER,YES,,,-1;CCDC115,upstream_gene_variant,,ENST00000409127,,,MODIFIER,,,,-1;IMP4,non_coding_transcript_exon_variant,,ENST00000460766,,n.612G>A,MODIFIER,,,,1;IMP4,non_coding_transcript_exon_variant,,ENST00000464432,,n.571G>A,MODIFIER,,,,1;IMP4,non_coding_transcript_exon_variant,,ENST00000473689,,n.567G>A,MODIFIER,,,,1;IMP4,non_coding_transcript_exon_variant,,ENST00000490895,,n.598G>A,MODIFIER,,,,1;IMP4,non_coding_transcript_exon_variant,,ENST00000460100,,n.79G>A,MODIFIER,,,,1;IMP4,non_coding_transcript_exon_variant,,ENST00000462357,,n.70G>A,MODIFIER,,,,1;IMP4,intron_variant,,ENST00000462392,,n.628+91G>A,MODIFIER,,,,1;CCDC115,upstream_gene_variant,,ENST00000465315,,,MODIFIER,,,,-1;CCDC115,upstream_gene_variant,,ENST00000442217,,,MODIFIER,,,,-1;IMP4,downstream_gene_variant,,ENST00000470672,,,MODIFIER,,,,1;IMP4,downstream_gene_variant,,ENST00000477375,,,MODIFIER,,,,1;IMP4,downstream_gene_variant,,ENST00000495606,,,MODIFIER,,,,1;IMP4,upstream_gene_variant,,ENST00000475074,,,MODIFIER,,,,1;IMP4,downstream_gene_variant,,ENST00000456713,,,MODIFIER,,,,1	A	ENST00000259239	Transcript	missense_variant	missense_variant	1159/1740	451/876	151/291	V/I	Gtc/Atc	rs11542413	1		1	IMP4	HGNC	HGNC:30856	protein_coding	YES	CCDS2160.1	ENSP00000259239	Q96G21			NM_033416.1	tolerated(0.65)	benign(0.05)	6/9		Pfam_domain:PF04427;PROSITE_profiles:PS50833;SMART_domains:SM00879;Superfamily_domains:SSF52954	2e-04	0	0.0014		0	0	0										MODERATE	1	SNV	1			1	8.236e-06	8.248e-06	0	0	0	0	0	0	6.056e-05		PASS	TCATCGTCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	130345790	130345790	G	A	1	0	0	0	0	1	0	0	0	7623	1145	40	1		1	IMP4	2	130345790	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5898878	130345790	111847739	62	1235											
MAP3K19	80122	BI	GRCh38	chr2	134981281	134981281	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcaatggcccaaaacGgtttataatactagagattg	9	8	1	1	rs749899105	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3460C>T	p.Arg1154Cys	p.R1154C	ENST00000375845	9/10	93	46	47	96			MAP3K19,missense_variant,p.R1154C,ENST00000375845,NM_025052.4,c.3460C>T,MODERATE,YES,deleterious(0),probably_damaging(0.977),-1;MAP3K19,missense_variant,p.R1041C,ENST00000358371,NM_001018044.2,c.3121C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;MAP3K19,missense_variant,p.R544C,ENST00000437365,,c.1630C>T,MODERATE,,deleterious(0),probably_damaging(0.977),-1;MAP3K19,missense_variant,p.R286C,ENST00000392917,NM_001282883.1,c.856C>T,MODERATE,,deleterious(0),probably_damaging(0.998),-1;MAP3K19,missense_variant,p.R336C,ENST00000375844,NM_001018046.2,c.1006C>T,MODERATE,,deleterious(0),possibly_damaging(0.835),-1;MAP3K19,missense_variant,p.R288C,ENST00000392918,NM_001018047.2,c.862C>T,MODERATE,,deleterious(0),possibly_damaging(0.835),-1;MAP3K19,3_prime_UTR_variant,,ENST00000392915,,c.*204C>T,MODIFIER,,,,-1;MAP3K19,non_coding_transcript_exon_variant,,ENST00000478805,,n.538C>T,MODIFIER,,,,-1	A	ENST00000375845	Transcript	missense_variant	missense_variant	3491/4377	3460/3987	1154/1328	R/C	Cgt/Tgt	rs749899105	1		-1	MAP3K19	HGNC	HGNC:26249	protein_coding	YES	CCDS2176.2	ENSP00000365005	Q56UN5		UPI00004F77F2	NM_025052.4	deleterious(0)	probably_damaging(0.977)	9/10		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1	8.237e-06	8.237e-06	0	0	0	0	1.498e-05	0	0		PASS	AAAACGGTTTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	134981281	134981281	G	A	1	0	0	0	0	1	0	0	0	9172	1116	39	2		2	MAP3K19	2	134981281	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4635491	134981281	107212248	63	1236											
NEB	4703	BI	GRCh38	chr2	151492472	151492472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccttgtatttgtttcCggaaactatcagaataaaga	7	7	1	2	rs745615279		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.19220G>A	p.Arg6407Gln	p.R6407Q	ENST00000172853	144/149	76	59	17	73			NEB,missense_variant,p.R8298Q,ENST00000618972,NM_001271208.1,c.24893G>A,MODERATE,YES,,probably_damaging(0.999),-1;NEB,missense_variant,p.R8263Q,ENST00000397345,NM_001164508.1,c.24788G>A,MODERATE,,,probably_damaging(0.986),-1;NEB,missense_variant,p.R8263Q,ENST00000427231,NM_001164507.1,c.24788G>A,MODERATE,,,probably_damaging(0.997),-1;NEB,missense_variant,p.R8263Q,ENST00000604864,,c.24788G>A,MODERATE,,,probably_damaging(0.997),-1;NEB,missense_variant,p.R8263Q,ENST00000603639,,c.24788G>A,MODERATE,,,probably_damaging(0.986),-1;NEB,missense_variant,p.R6407Q,ENST00000409198,NM_004543.4,c.19220G>A,MODERATE,,,probably_damaging(0.935),-1;NEB,missense_variant,p.R6407Q,ENST00000172853,,c.19220G>A,MODERATE,,,possibly_damaging(0.778),-1;NEB,missense_variant,p.R2745Q,ENST00000413693,,c.8234G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.71),-1;NEB,missense_variant,p.R397Q,ENST00000397337,,c.1189G>A,MODERATE,,tolerated(0.12),possibly_damaging(0.837),-1;NEB,missense_variant,p.R504Q,ENST00000434685,,c.1510G>A,MODERATE,,tolerated(0.45),benign(0.033),-1;NEB,downstream_gene_variant,,ENST00000421461,,,MODIFIER,,,,-1;NEB,downstream_gene_variant,,ENST00000424585,,,MODIFIER,,,,-1;NEB,non_coding_transcript_exon_variant,,ENST00000498015,,n.248G>A,MODIFIER,,,,-1;RIF1,intron_variant,,ENST00000457745,,n.481-2757C>T,MODIFIER,,,,1;RIF1,upstream_gene_variant,,ENST00000484077,,,MODIFIER,,,,1;NEB,non_coding_transcript_exon_variant,,ENST00000497809,,n.825G>A,MODIFIER,,,,-1;RIF1,intron_variant,,ENST00000454583,,c.*416-2757C>T,MODIFIER,,,,1	T	ENST00000172853	Transcript	missense_variant	missense_variant	19423/20634	19220/20010	6407/6669	R/Q	cGg/cAg	rs745615279	1		-1	NEB	HGNC	HGNC:7720	protein_coding			ENSP00000172853	P20929		UPI0000212787			possibly_damaging(0.778)	144/149		Pfam_domain:PF00880;PROSITE_profiles:PS51216;SMART_domains:SM00227																	MODERATE		SNV	1			1											PASS	GTTTCCGGAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4537979;COSM4537980;COSM4537981	True	Unknown	T	3	4	80	151492472	151492472	C	T	1	0	0	0	0	1	0	0	0	10326	652	23	2		2	NEB	2	151492472	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	16511191	151492472	90701057	64	1237											
SCN2A	6326	BI	GRCh38	chr2	165354394	165354394	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctttagatgaaattaaacCgcttgaagatctaaataata	6	5	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3122C>T	p.Pro1041Leu	p.P1041L	ENST00000283256	17/27	47	38	9	62			SCN2A,missense_variant,p.P1041L,ENST00000375437,NM_001040142.1,c.3122C>T,MODERATE,YES,deleterious(0.03),benign(0.149),1;SCN2A,missense_variant,p.P1041L,ENST00000283256,NM_021007.2,c.3122C>T,MODERATE,,deleterious(0.03),benign(0.149),1;SCN2A,missense_variant,p.P1041L,ENST00000375427,NM_001040143.1,c.3122C>T,MODERATE,,deleterious(0.03),benign(0.065),1;SCN2A,missense_variant,p.P1041L,ENST00000631182,,c.3122C>T,MODERATE,,deleterious(0.03),benign(0.065),1;SCN2A,non_coding_transcript_exon_variant,,ENST00000480032,,n.3265C>T,MODIFIER,,,,1	T	ENST00000283256	Transcript	missense_variant	missense_variant	3278/8660	3122/6018	1041/2005	P/L	cCg/cTg		1		1	SCN2A	HGNC	HGNC:10588	protein_coding		CCDS33314.1	ENSP00000283256	Q99250		UPI00001279C9	NM_021007.2	deleterious(0.03)	benign(0.149)	17/27		Pfam_domain:PF06512																	MODERATE		SNV	1			1											PASS	TAAACCGCTTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1264993;COSM1264994	True	Unknown	T	3	4	80	165354394	165354394	C	T	1	0	0	0	0	1	0	0	0	14185	652	23	2		2	SCN2A	2	165354394	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13861922	165354394	76839135	65	1238											
LRP2	4036	BI	GRCh38	chr2	169156288	169156288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcataccctcagctgcacatCgttttccagggcggtcactc	8	15	3	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.12137G>A	p.Arg4046Gln	p.R4046Q	ENST00000263816	65/79	73	63	10	98			LRP2,missense_variant,p.R4046Q,ENST00000263816,NM_004525.2,c.12137G>A,MODERATE,YES,,benign(0.079),-1	T	ENST00000263816	Transcript	missense_variant	missense_variant	12423/15808	12137/13968	4046/4655	R/Q	cGa/cAa		1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2		benign(0.079)	65/79		SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57184																	MODERATE	1	SNV	1			1											PASS	CACATCGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	169156288	169156288	C	T	1	0	0	0	0	1	0	0	0	8851	884	31	2		2	LRP2	2	169156288	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3801894	169156288	73037241	66	1239											
LRP2	4036	BI	GRCh38	chr2	169204121	169204121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcaatctgacctgacccGtcatatttgttagctcggta	8	10	2	2	rs139514301	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7866C>T	p.=	p.D2622D	ENST00000263816	42/79	127	63	64	212			LRP2,synonymous_variant,p.D2622D,ENST00000263816,NM_004525.2,c.7866C>T,LOW,YES,,,-1	A	ENST00000263816	Transcript	synonymous_variant	synonymous_variant	8152/15808	7866/13968	2622/4655	D	gaC/gaT	rs139514301	1		-1	LRP2	HGNC	HGNC:6694	protein_coding	YES	CCDS2232.1	ENSP00000263816	P98164		UPI0000141BA5	NM_004525.2			42/79		SMART_domains:SM00135;Superfamily_domains:SSF63825	2e-04	0	0		0	0.001	0	0	7e-04								LOW	1	SNV	1			1	0.0008154	0.0008156	0.0002884	0.0001728	0.0004622	0.0004536	0.001304	0	0		panel_of_normals	GACCCGTCATA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM4698871	True	Unknown	A	2	1	80	169204121	169204121	G	A	1	0	0	0	0	0	0	0	1	8851	1136	40	1		1	LRP2	2	169204121	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	47833	169204121	72989408	67	1240											
MYO3B	140469	BI	GRCh38	chr2	170515003	170515003	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgaggttcaagactgcagCgagcctggtgaccataaagg	14	10	1	2	rs750438385	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3453C>T	p.=	p.S1151S	ENST00000408978	29/35	29	22	7	31			MYO3B,synonymous_variant,p.S1151S,ENST00000408978,NM_138995.4,c.3453C>T,LOW,YES,,,1;MYO3B,synonymous_variant,p.S1124S,ENST00000409044,NM_001083615.3,c.3372C>T,LOW,,,,1;MYO3B,non_coding_transcript_exon_variant,,ENST00000602629,,n.2681C>T,MODIFIER,,,,1;MYO3B,non_coding_transcript_exon_variant,,ENST00000438642,,n.3596C>T,MODIFIER,,,,1;MYO3B,synonymous_variant,p.S1124S,ENST00000317935,,c.3372C>T,LOW,,,,1;MYO3B,non_coding_transcript_exon_variant,,ENST00000409940,,n.3596C>T,MODIFIER,,,,1	T	ENST00000408978	Transcript	synonymous_variant	synonymous_variant	3596/5529	3453/4026	1151/1341	S	agC/agT	rs750438385	1		1	MYO3B	HGNC	HGNC:15576	protein_coding	YES	CCDS42773.1	ENSP00000386213	Q8WXR4		UPI000020907B	NM_138995.4			29/35																			LOW	1	SNV	1			1	8.272e-06	8.393e-06	0	0	0	0	0	0	6.21e-05		PASS	TGCAGCGAGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	170515003	170515003	C	T	1	0	0	0	0	0	0	0	1	10078	767	27	2		2	MYO3B	2	170515003	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1310882	170515003	71678526	68	1241											
SLC25A12	8604	BI	GRCh38	chr2	171785376	171785376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttcgatgcctgcaaaCgtggctgtggcgagtctgta	13	8	1	0	rs369901246	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1935G>A	p.=	p.T645T	ENST00000422440	18/18	80	62	18	98			SLC25A12,synonymous_variant,p.T645T,ENST00000422440,NM_003705.4,c.1935G>A,LOW,YES,,,-1;SLC25A12,3_prime_UTR_variant,,ENST00000263812,,c.*1555G>A,MODIFIER,,,,-1;SLC25A12,non_coding_transcript_exon_variant,,ENST00000472070,,n.1345G>A,MODIFIER,,,,-1	T	ENST00000422440	Transcript	synonymous_variant	synonymous_variant	1973/2979	1935/2037	645/678	T	acG/acA	rs369901246	1		-1	SLC25A12	HGNC	HGNC:10982	protein_coding	YES	CCDS33327.1	ENSP00000388658	O75746		UPI0000070D4E	NM_003705.4			18/18										2e-04	0								LOW	1	SNV	1			1	8.236e-06	8.237e-06	9.61e-05	0	0	0	0	0	0		PASS	GCAAACGTGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	171785376	171785376	C	T	1	0	0	0	0	0	0	0	1	14739	523	19	1		1	SLC25A12	2	171785376	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1270373	171785376	70408153	69	1242											
DLX2	1746	BI	GRCh38	chr2	172100920	172100920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcttgaacttggaccGgcggttctggaaccagattt	10	10	3	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.610C>T	p.Arg204Trp	p.R204W	ENST00000234198	3/3	51	44	7	49			DLX2,missense_variant,p.R204W,ENST00000234198,NM_004405.3,c.610C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;DLX2,3_prime_UTR_variant,,ENST00000466293,,c.*473C>T,MODIFIER,,,,-1;DLX2-AS1,upstream_gene_variant,,ENST00000448117,,,MODIFIER,YES,,,1	A	ENST00000234198	Transcript	missense_variant	missense_variant	972/2453	610/987	204/328	R/W	Cgg/Tgg		1		-1	DLX2	HGNC	HGNC:2915	protein_coding	YES	CCDS2248.1	ENSP00000234198	Q07687	X5D7D8;Q53QU7	UPI00001294AC	NM_004405.3	deleterious(0)	probably_damaging(1)	3/3		Pfam_domain:PF00046;Prints_domain:PR00031;Prints_domain:PR00024;PROSITE_profiles:PS50071;SMART_domains:SM00389;Superfamily_domains:SSF46689																	MODERATE	1	SNV	1			1											PASS	GGACCGGCGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1325760	True	Unknown	A	3	1	80	172100920	172100920	G	A	1	0	0	0	0	1	0	0	0	4378	1115	39	2		2	DLX2	2	172100920	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	315544	172100920	70092609	70	1243											
TTN	7273	BI	GRCh38	chr2	178558524	178558524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctttttctagtgcttcaaCgacatagtgtacaattctgc	6	10	3	0	rs201687390	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.82012G>A	p.Val27338Ile	p.V27338I	ENST00000591111	277/313	24	21	3	31			TTN,missense_variant,p.V28979I,ENST00000589042,NM_001267550.1,c.86935G>A,MODERATE,YES,,,-1;TTN,missense_variant,p.V27338I,ENST00000615779,NM_001256850.1,c.82012G>A,MODERATE,,,,-1;TTN,missense_variant,p.V27338I,ENST00000591111,,c.82012G>A,MODERATE,,,,-1;TTN,missense_variant,p.V26411I,ENST00000342992,NM_133378.4,c.79231G>A,MODERATE,,,,-1;TTN,missense_variant,p.V20106I,ENST00000342175,NM_133437.3,c.60316G>A,MODERATE,,,,-1;TTN,missense_variant,p.V20039I,ENST00000359218,NM_133432.3,c.60115G>A,MODERATE,,,benign(0.14),-1;TTN,missense_variant,p.V19914I,ENST00000460472,NM_003319.4,c.59740G>A,MODERATE,,,,-1;TTN-AS1,intron_variant,,ENST00000419746,,n.2043+16163C>T,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.414-12776C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000627564,,n.378-12776C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+34888C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.551+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.74+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.346-25189C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.75-12776C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.462+16163C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.346-26049C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.75-25000C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.214+16163C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590932,,n.615+16163C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.21+20833C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.49+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.433+20833C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.49+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.345+34888C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.74+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.442+22696C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.49+29711C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000438095,,n.195-12776C>T,MODIFIER,,,,1;RP11-65L3.3,non_coding_transcript_exon_variant,,ENST00000624360,,n.3964C>T,MODIFIER,YES,,,1	T	ENST00000591111	Transcript	missense_variant	missense_variant	82237/104301	82012/103053	27338/34350	V/I	Gtt/Att	rs201687390	1		-1	TTN	HGNC	HGNC:12403	protein_coding			ENSP00000465570	Q8WZ42		UPI00025287CD				277/313		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265;Superfamily_domains:SSF49758;Superfamily_domains:SSF88633;Superfamily_domains:SSF50729;Superfamily_domains:SSF53300;Superfamily_domains:SSF53098;Superfamily_domains:SSF53300;Superfamily_domains:SSF88633								5e-04	1e-04	uncertain_significance							MODERATE		SNV	5		1	1	0.0001655	0.0001663	0.0002044	0.0001739	0.001297	0	1.503e-05	0.001116	0.000182		panel_of_normals	TTCAACGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM1636871;COSM1636872;COSM1636873;COSM1636874	True	Unknown	T	3	4	80	178558524	178558524	C	T	1	0	0	0	0	1	0	0	0	17245	536	19	1		1	TTN	2	178558524	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6457604	178558524	63635005	71	1244											
TTN	7273	BI	GRCh38	chr2	178566447	178566447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctttgttgagggcacagactCgtattttatactcttggtgt	10	7	1	2	rs538960023	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.74762G>A	p.Arg24921Gln	p.R24921Q	ENST00000591111	276/313	113	82	31	135			TTN,missense_variant,p.R26562Q,ENST00000589042,NM_001267550.1,c.79685G>A,MODERATE,YES,,,-1;TTN,missense_variant,p.R24921Q,ENST00000615779,NM_001256850.1,c.74762G>A,MODERATE,,,,-1;TTN,missense_variant,p.R24921Q,ENST00000591111,,c.74762G>A,MODERATE,,,,-1;TTN,missense_variant,p.R23994Q,ENST00000342992,NM_133378.4,c.71981G>A,MODERATE,,,,-1;TTN,missense_variant,p.R17689Q,ENST00000342175,NM_133437.3,c.53066G>A,MODERATE,,,,-1;TTN,missense_variant,p.R17622Q,ENST00000359218,NM_133432.3,c.52865G>A,MODERATE,,,possibly_damaging(0.553),-1;TTN,missense_variant,p.R17497Q,ENST00000460472,NM_003319.4,c.52490G>A,MODERATE,,,,-1;TTN-AS1,intron_variant,,ENST00000419746,,n.2044-16125C>T,MODIFIER,YES,,,1;TTN-AS1,intron_variant,,ENST00000456053,,n.414-4853C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000627564,,n.378-4853C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000585451,,n.198+42811C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000630096,,n.552-31149C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626954,,n.75-31149C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586707,,n.346-17266C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586452,,n.75-4853C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592689,,n.462+24086C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592600,,n.346-18126C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590807,,n.75-17077C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000586831,,n.215-16125C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000590932,,n.615+24086C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626138,,n.50-31149C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625536,,n.22-24692C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592630,,n.433+28756C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628826,,n.49+37634C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000625480,,n.50-31149C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000592750,,n.346-31149C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000626117,,n.75-24692C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000591332,,n.442+30619C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000628296,,n.50-24692C>T,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000438095,,n.195-4853C>T,MODIFIER,,,,1	T	ENST00000591111	Transcript	missense_variant	missense_variant	74987/104301	74762/103053	24921/34350	R/Q	cGa/cAa	rs538960023	1		-1	TTN	HGNC	HGNC:12403	protein_coding			ENSP00000465570	Q8WZ42		UPI00025287CD				276/313		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49758;Superfamily_domains:SSF49265;Superfamily_domains:SSF88633;Superfamily_domains:SSF50729;Superfamily_domains:SSF53300;Superfamily_domains:SSF53098;Superfamily_domains:SSF53300;Superfamily_domains:SSF88633	2e-04	0	0		0	0	0.001										MODERATE		SNV	5			1	5.793e-05	5.799e-05	0	0	0	0	1.499e-05	0	0.0003635		panel_of_normals	AGACTCGTATT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	178566447	178566447	C	T	1	0	0	0	0	1	0	0	0	17245	884	31	2		2	TTN	2	178566447	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7923	178566447	63627082	72	1245											
TTN	7273	BI	GRCh38	chr2	178770077	178770077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactctccacaaacagttttGctttgcattccaattgcccg	5	13	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.8624C>T	p.Ala2875Val	p.A2875V	ENST00000591111	36/313	81	39	42	113			TTN,missense_variant,p.A2875V,ENST00000589042,NM_001267550.1,c.8624C>T,MODERATE,YES,,,-1;TTN,missense_variant,p.A2875V,ENST00000591111,,c.8624C>T,MODERATE,,,,-1;TTN,missense_variant,p.A2875V,ENST00000615779,NM_001256850.1,c.8624C>T,MODERATE,,,,-1;TTN,missense_variant,p.A2875V,ENST00000342992,NM_133378.4,c.8624C>T,MODERATE,,,,-1;TTN,missense_variant,p.A2829V,ENST00000342175,NM_133437.3,c.8486C>T,MODERATE,,,,-1;TTN,missense_variant,p.A2829V,ENST00000359218,NM_133432.3,c.8486C>T,MODERATE,,,unknown(0),-1;TTN,missense_variant,p.A2829V,ENST00000460472,NM_003319.4,c.8486C>T,MODERATE,,,,-1;TTN,missense_variant,p.A2875V,ENST00000360870,NM_133379.4,c.8624C>T,MODERATE,,,probably_damaging(0.997),-1;TTN-AS1,intron_variant,,ENST00000585451,,n.457-3198G>A,MODIFIER,,,,1;TTN-AS1,intron_variant,,ENST00000610005,,n.562-3198G>A,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000584485,,,MODIFIER,,,,1;TTN-AS1,upstream_gene_variant,,ENST00000629094,,,MODIFIER,,,,1	A	ENST00000591111	Transcript	missense_variant	missense_variant	8849/104301	8624/103053	2875/34350	A/V	gCa/gTa		1		-1	TTN	HGNC	HGNC:12403	protein_coding			ENSP00000465570	Q8WZ42		UPI00025287CD				36/313		Pfam_domain:PF07679;SMART_domains:SM00409;Superfamily_domains:SSF88633;Superfamily_domains:SSF50729;Superfamily_domains:SSF48726;Superfamily_domains:SSF53300;Superfamily_domains:SSF53098;Superfamily_domains:SSF53300;Superfamily_domains:SSF88633;Superfamily_domains:SSF48452;Superfamily_domains:SSF53474;Superfamily_domains:SSF52540																	MODERATE		SNV	5			1											PASS	GTTTTGCTTTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	178770077	178770077	G	A	1	0	0	0	0	1	0	0	0	17245	1319	46	3		3	TTN	2	178770077	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	203630	178770077	63423452	73	1246											
DNAH7	56171	BI	GRCh38	chr2	195923720	195923720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacaagtgctcccagagttaCgcgattctgcatggacaatt	9	11	1	1	rs764826384	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3700G>A	p.Val1234Ile	p.V1234I	ENST00000312428	23/65	73	60	13	57			DNAH7,missense_variant,p.V1234I,ENST00000312428,NM_018897.2,c.3700G>A,MODERATE,YES,tolerated(1),benign(0.021),-1	T	ENST00000312428	Transcript	missense_variant	missense_variant	3801/12394	3700/12075	1234/4024	V/I	Gta/Ata	rs764826384	1		-1	DNAH7	HGNC	HGNC:18661	protein_coding	YES	CCDS42794.1	ENSP00000311273	Q8WXX0		UPI0000141B95	NM_018897.2	tolerated(1)	benign(0.021)	23/65																			MODERATE	1	SNV	1			1	1.654e-05	1.66e-05	0	0	0	0	3.003e-05	0	0		panel_of_normals	AGTTACGCGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	195923720	195923720	C	T	1	0	0	0	0	1	0	0	0	4421	536	19	1		1	DNAH7	2	195923720	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17153643	195923720	46269809	74	1247											
SF3B1	23451	BI	GRCh38	chr2	197402760	197402760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagctgttgtgttacGgacatactcatccatgttat	8	9	2	0	rs775623976	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1873C>T	p.Arg625Cys	p.R625C	ENST00000335508	14/25	37	19	18	56			SF3B1,missense_variant,p.R625C,ENST00000335508,NM_012433.2,c.1873C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SF3B1,upstream_gene_variant,,ENST00000424674,,,MODIFIER,,,,-1;SNORA4,upstream_gene_variant,,ENST00000365564,,,MODIFIER,YES,,,1;SF3B1,upstream_gene_variant,,ENST00000462613,,,MODIFIER,,,,-1;SF3B1,upstream_gene_variant,,ENST00000496458,,,MODIFIER,,,,-1	A	ENST00000335508	Transcript	missense_variant	missense_variant	1965/6526	1873/3915	625/1304	R/C	Cgt/Tgt	rs775623976	1		-1	SF3B1	HGNC	HGNC:10768	protein_coding	YES	CCDS33356.1	ENSP00000335321	O75533		UPI000013D493	NM_012433.2	deleterious(0)	probably_damaging(1)	14/25		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0	0	2.998e-05	0	0		PASS	GTTACGGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM110696	True	Unknown	A	3	1	80	197402760	197402760	G	A	1	0	0	0	0	1	0	0	0	14428	1116	39	2		2	SF3B1	2	197402760	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1479040	197402760	44790769	75	1248											
PLCL1	5334	BI	GRCh38	chr2	198084033	198084033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcagactggggaaaaacacGgaaacatttagaaacaatgg	10	6	1	2	rs750066298		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.516G>A	p.=	p.T172T	ENST00000428675	2/6	73	37	36	88			PLCL1,synonymous_variant,p.T95T,ENST00000437704,,c.285G>A,LOW,,,,1;PLCL1,synonymous_variant,p.T172T,ENST00000428675,NM_006226.3,c.516G>A,LOW,YES,,,1;PLCL1,synonymous_variant,p.T98T,ENST00000487695,,c.294G>A,LOW,,,,1;PLCL1,3_prime_UTR_variant,,ENST00000435320,,c.*288G>A,MODIFIER,,,,1	A	ENST00000428675	Transcript	synonymous_variant	synonymous_variant	914/5125	516/3288	172/1095	T	acG/acA	rs750066298	1		1	PLCL1	HGNC	HGNC:9063	protein_coding	YES	CCDS2326.2	ENSP00000402861	Q15111		UPI000165BCF5	NM_006226.3			2/6		PROSITE_profiles:PS50003;SMART_domains:SM00233;Superfamily_domains:SSF50729																	LOW	1	SNV	5			1											panel_of_normals	AACACGGAAAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM4551038;COSM4551039	True	Unknown	A	2	1	80	198084033	198084033	G	A	1	0	0	0	0	0	0	0	1	12133	1103	39	2		2	PLCL1	2	198084033	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	681273	198084033	44109496	76	1249											
AOX1	316	BI	GRCh38	chr2	200613873	200613873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccttttgggctcGgcgccaggtgggaaagtgga	16	9	1	0	rs748850939	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1518G>A	p.=	p.S506S	ENST00000374700	15/35	49	46	3	57			AOX1,synonymous_variant,p.S506S,ENST00000374700,NM_001159.3,c.1518G>A,LOW,YES,,,1;AOX1,non_coding_transcript_exon_variant,,ENST00000485106,,n.427G>A,MODIFIER,,,,1;AOX1,non_coding_transcript_exon_variant,,ENST00000465297,,n.450G>A,MODIFIER,,,,1;AOX1,non_coding_transcript_exon_variant,,ENST00000485965,,n.571G>A,MODIFIER,,,,1	A	ENST00000374700	Transcript	synonymous_variant	synonymous_variant	1759/5074	1518/4017	506/1338	S	tcG/tcA	rs748850939	1		1	AOX1	HGNC	HGNC:553	protein_coding	YES	CCDS33360.1	ENSP00000363832	Q06278		UPI0000071863	NM_001159.3			15/35		Pfam_domain:PF03450;TIGRFAM_domain:TIGR02969;Superfamily_domains:SSF55447;PIRSF_domain:PIRSF000127																	LOW	1	SNV	1			1	3.295e-05	3.3e-05	0	0	0.000116	0	3e-05	0	6.061e-05		PASS	GGCTCGGCGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4420758	True	Unknown	A	2	1	80	200613873	200613873	G	A	1	0	0	0	0	0	0	0	1	839	1103	39	2		2	AOX1	2	200613873	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2529840	200613873	41579656	77	1250											
PLEKHM3	389072	BI	GRCh38	chr2	207931086	207931086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcggctcttcgtacaCgtactccagaaactccttgg	10	12	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1726G>A	p.Val576Met	p.V576M	ENST00000427836	5/8	54	38	16	79			PLEKHM3,missense_variant,p.V576M,ENST00000457206,,c.1726G>A,MODERATE,,deleterious(0),probably_damaging(0.993),-1;PLEKHM3,missense_variant,p.V576M,ENST00000427836,NM_001080475.2,c.1726G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),-1;PLEKHM3,missense_variant,p.V328M,ENST00000447645,,c.980G>A,MODERATE,,deleterious(0),probably_damaging(0.988),-1	T	ENST00000427836	Transcript	missense_variant	missense_variant	2216/2792	1726/2286	576/761	V/M	Gtg/Atg		1		-1	PLEKHM3	HGNC	HGNC:34006	protein_coding	YES	CCDS42808.1	ENSP00000417003	Q6ZWE6		UPI0000DBEE58	NM_001080475.2	deleterious(0)	probably_damaging(0.995)	5/8																			MODERATE	1	SNV	5			1											PASS	GTACACGTACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	207931086	207931086	C	T	1	0	0	0	0	1	0	0	0	12175	536	19	1		1	PLEKHM3	2	207931086	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7317213	207931086	34262443	78	1251											
MAP2	4133	BI	GRCh38	chr2	209694762	209694762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaaaaacggacagtcagctCgaagacctgggctactgtgt	12	9	1	1	rs762767061	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2592C>T	p.=	p.L864L	ENST00000360351	7/15	56	51	5	53			MAP2,synonymous_variant,p.L864L,ENST00000360351,NM_002374.3,c.2592C>T,LOW,YES,,,1;MAP2,synonymous_variant,p.L860L,ENST00000447185,,c.2580C>T,LOW,,,,1;MAP2,intron_variant,,ENST00000392194,NM_031845.2,c.455-5515C>T,MODIFIER,,,,1;MAP2,intron_variant,,ENST00000199940,NM_031847.2&NM_001039538.1,c.455-5515C>T,MODIFIER,,,,1;MAP2,intron_variant,,ENST00000361559,,c.455-5515C>T,MODIFIER,,,,1;MAP2,intron_variant,,ENST00000452717,,c.233-5515C>T,MODIFIER,,,,1;MAP2,downstream_gene_variant,,ENST00000445941,,,MODIFIER,,,,1;MAP2,intron_variant,,ENST00000471619,,n.407-5515C>T,MODIFIER,,,,1;MAP2,intron_variant,,ENST00000482864,,n.357-1780C>T,MODIFIER,,,,1;MAP2,upstream_gene_variant,,ENST00000475600,,,MODIFIER,,,,1;MAP2,downstream_gene_variant,,ENST00000461253,,,MODIFIER,,,,1;MAP2,downstream_gene_variant,,ENST00000481649,,,MODIFIER,,,,1	T	ENST00000360351	Transcript	synonymous_variant	synonymous_variant	3098/9711	2592/5484	864/1827	L	ctC/ctT	rs762767061	1		1	MAP2	HGNC	HGNC:6839	protein_coding	YES	CCDS2384.1	ENSP00000353508	P11137	A0A024R407	UPI000013D119	NM_002374.3			7/15		Pfam_domain:PF08377																	LOW	1	SNV	5			1	1.647e-05	1.649e-05	0	0	0	0.0001513	1.5e-05	0	0		PASS	CAGCTCGAAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	209694762	209694762	C	T	1	0	0	0	0	0	0	0	1	9157	871	31	2		2	MAP2	2	209694762	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1763676	209694762	32498767	79	1252											
DOCK10	55619	BI	GRCh38	chr2	224823579	224823579	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttccaaatcacatggtcGgataggaccatgacaagatt	8	8	1	2	rs369199175	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3105C>T	p.=	p.S1035S	ENST00000258390	28/56	42	34	8	43			DOCK10,synonymous_variant,p.S1029S,ENST00000409592,NM_001290263.1,c.3087C>T,LOW,,,,-1;DOCK10,synonymous_variant,p.S1035S,ENST00000258390,NM_014689.2,c.3105C>T,LOW,YES,,,-1	A	ENST00000258390	Transcript	synonymous_variant	synonymous_variant	3173/7260	3105/6561	1035/2186	S	tcC/tcT	rs369199175	1		-1	DOCK10	HGNC	HGNC:23479	protein_coding	YES	CCDS46528.1	ENSP00000258390	Q96BY6		UPI000021D2A7	NM_014689.2			28/56		Superfamily_domains:SSF48371;Superfamily_domains:SSF48371								3e-04	0								LOW	1	SNV	5			1	2.483e-05	2.486e-05	0.0001021	0	0.0002321	0	0	0	0		panel_of_normals	TGGTCGGATAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM476996	True	Unknown	A	2	1	80	224823579	224823579	G	A	1	0	0	0	0	0	0	0	1	4500	1103	39	2		2	DOCK10	2	224823579	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15128817	224823579	17369950	80	1253											
HTR2B	3357	BI	GRCh38	chr2	231108732	231108732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtagatcttactggagcGttttctgagagtttttactg	11	5	2	2	rs180891719	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1231C>T	p.Arg411Cys	p.R411C	ENST00000258400	4/4	54	33	21	78			HTR2B,missense_variant,p.R411C,ENST00000258400,NM_000867.4,c.1231C>T,MODERATE,YES,tolerated(0.25),benign(0),-1;PSMD1,intron_variant,,ENST00000308696,NM_002807.3,c.1883+21551G>A,MODIFIER,YES,,,1;PSMD1,intron_variant,,ENST00000373635,NM_001191037.1,c.1883+21551G>A,MODIFIER,,,,1;PSMD1,intron_variant,,ENST00000619128,,c.1883+21551G>A,MODIFIER,,,,1;PSMD1,intron_variant,,ENST00000409643,,c.1883+21551G>A,MODIFIER,,,,1;PSMD1,intron_variant,,ENST00000447633,,c.361+21551G>A,MODIFIER,,,,1;PSMD1,non_coding_transcript_exon_variant,,ENST00000488354,,n.269G>A,MODIFIER,,,,1;PSMD1,intron_variant,,ENST00000431051,,c.*1566+21551G>A,MODIFIER,,,,1	A	ENST00000258400	Transcript	missense_variant	missense_variant	1744/2246	1231/1446	411/481	R/C	Cgc/Tgc	rs180891719	1		-1	HTR2B	HGNC	HGNC:5294	protein_coding	YES	CCDS2483.1	ENSP00000258400	P41595		UPI0000001C05	NM_000867.4	tolerated(0.25)	benign(0)	4/4		Prints_domain:PR00651;Superfamily_domains:SSF81321	2e-04	0	0		0.001	0	0										MODERATE	1	SNV	1			1	0.0001153	0.0001154	0	0.0005196	0.0002314	0	8.994e-05	0	0		PASS	GGAGCGTTTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	231108732	231108732	G	A	1	0	0	0	0	1	0	0	0	7338	1145	40	1		1	HTR2B	2	231108732	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6285153	231108732	11084797	81	1254											
AGAP1	116987	BI	GRCh38	chr2	235750488	235750488	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagggtcttccaggacGgtaaatgcgcgtggctggga	18	7	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.673G>A	p.Val225Ile	p.V225I	ENST00000304032	6/18	81	62	19	88			AGAP1,missense_variant,p.V225I,ENST00000304032,NM_001037131.2,c.673G>A,MODERATE,YES,tolerated(0.07),possibly_damaging(0.87),1;AGAP1,missense_variant,p.V171I,ENST00000428334,,c.511G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.87),1;AGAP1,missense_variant,p.V171I,ENST00000614409,,c.511G>A,MODERATE,,tolerated(0.12),possibly_damaging(0.776),1;AGAP1,missense_variant,p.V490I,ENST00000409538,,c.1468G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.776),1;AGAP1,missense_variant,p.V225I,ENST00000336665,NM_014914.4,c.673G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.595),1;AGAP1,missense_variant,p.V225I,ENST00000409457,NM_001244888.1,c.673G>A,MODERATE,,tolerated(0.07),benign(0.06),1;AGAP1,missense_variant,p.V171I,ENST00000619456,,c.511G>A,MODERATE,,tolerated(0.07),benign(0.06),1	A	ENST00000304032	Transcript	missense_variant	missense_variant;splice_region_variant	1253/10832	673/2574	225/857	V/I	Gtt/Att		1		1	AGAP1	HGNC	HGNC:16922	protein_coding	YES	CCDS33408.1	ENSP00000307634	Q9UPQ3		UPI00005E1AE1	NM_001037131.2	tolerated(0.07)	possibly_damaging(0.87)	6/18		Pfam_domain:PF00071;Prints_domain:PR00449;SMART_domains:SM00173;SMART_domains:SM00175;Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1											PASS	AGGACGGTAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	235750488	235750488	G	A	1	0	0	0	0	1	0	0	0	443	1130	39	2		2	AGAP1	2	235750488	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4641756	235750488	6443041	82	1255											
AGAP1	116987	BI	GRCh38	chr2	236123941	236123941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggagtggacgtcacggcccGagatgcccacgggaacacag	15	13	1	1	rs138364081	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2393G>A	p.Arg798Gln	p.R798Q	ENST00000304032	18/18	36	23	13	51			AGAP1,missense_variant,p.R798Q,ENST00000304032,NM_001037131.2,c.2393G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.998),1;AGAP1,missense_variant,p.R744Q,ENST00000428334,,c.2231G>A,MODERATE,,tolerated(0.07),probably_damaging(0.998),1;AGAP1,missense_variant,p.R691Q,ENST00000614409,,c.2072G>A,MODERATE,,tolerated(0.09),probably_damaging(0.998),1;AGAP1,missense_variant,p.R1010Q,ENST00000409538,,c.3029G>A,MODERATE,,deleterious(0.02),probably_damaging(0.998),1;AGAP1,missense_variant,p.R745Q,ENST00000336665,NM_014914.4,c.2234G>A,MODERATE,,tolerated(0.09),probably_damaging(0.998),1;AGAP1,downstream_gene_variant,,ENST00000418654,,,MODIFIER,,,,1;AGAP1,non_coding_transcript_exon_variant,,ENST00000453371,,n.597G>A,MODIFIER,,,,1;AGAP1,downstream_gene_variant,,ENST00000466575,,,MODIFIER,,,,1	A	ENST00000304032	Transcript	missense_variant	missense_variant	2973/10832	2393/2574	798/857	R/Q	cGa/cAa	rs138364081	1		1	AGAP1	HGNC	HGNC:16922	protein_coding	YES	CCDS33408.1	ENSP00000307634	Q9UPQ3		UPI00005E1AE1	NM_001037131.2	tolerated(0.07)	probably_damaging(0.998)	18/18		Pfam_domain:PF00023;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;Superfamily_domains:SSF48403								5e-04	3e-04								MODERATE	1	SNV	5			1	0.0003542	0.0003566	0.0003896	0	0	0	0.0005896	0	0		panel_of_normals	GGCCCGAGATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	3	1	80	236123941	236123941	G	A	1	0	0	0	0	1	0	0	0	443	1058	37	2		2	AGAP1	2	236123941	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	373453	236123941	6069588	83	1256											
C2orf54	79919	BI	GRCh38	chr2	240890073	240890073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctctcgtggttgacccggtCgaggatggagaggctgtcca	16	10	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.826G>A	p.Asp276Asn	p.D276N	ENST00000388934	3/5	32	28	4	59			C2orf54,missense_variant,p.D127N,ENST00000307486,NM_001282921.1,c.379G>A,MODERATE,,tolerated(0.08),probably_damaging(0.949),-1;C2orf54,missense_variant,p.D108N,ENST00000402775,NM_024861.3,c.322G>A,MODERATE,,tolerated(0.08),probably_damaging(0.949),-1;C2orf54,missense_variant,p.D276N,ENST00000388934,NM_001085437.2,c.826G>A,MODERATE,YES,tolerated(0.09),probably_damaging(0.989),-1	T	ENST00000388934	Transcript	missense_variant	missense_variant	985/1911	826/1344	276/447	D/N	Gac/Aac		1		-1	C2orf54	HGNC	HGNC:26216	protein_coding	YES	CCDS42839.1	ENSP00000373586	Q08AI8		UPI000049DF42	NM_001085437.2	tolerated(0.09)	probably_damaging(0.989)	3/5																			MODERATE	1	SNV	2			1											PASS	CCGGTCGAGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	240890073	240890073	C	T	1	0	0	0	0	1	0	0	0	2038	884	31	2		2	C2orf54	2	240890073	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4766132	240890073	1303456	84	1257											
HDLBP	3069	BI	GRCh38	chr2	241239775	241239775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggatgacgaagtggcGgtggtgcttggggtccacca	17	9	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2437C>T	p.Arg813Cys	p.R813C	ENST00000391975	19/28	26	20	6	43			HDLBP,missense_variant,p.R813C,ENST00000391975,NM_203346.3,c.2437C>T,MODERATE,YES,deleterious(0),probably_damaging(0.99),-1;HDLBP,missense_variant,p.R780C,ENST00000427183,NM_001243900.1,c.2338C>T,MODERATE,,deleterious(0),probably_damaging(0.982),-1;HDLBP,missense_variant,p.R813C,ENST00000310931,NM_005336.4,c.2437C>T,MODERATE,,deleterious(0),probably_damaging(0.99),-1;HDLBP,missense_variant,p.R813C,ENST00000391976,,c.2437C>T,MODERATE,,deleterious(0),probably_damaging(0.99),-1;HDLBP,missense_variant,p.R622C,ENST00000373292,,c.1862C>T,MODERATE,,deleterious(0),probably_damaging(0.994),-1;HDLBP,missense_variant,p.R215C,ENST00000427487,,c.642C>T,MODERATE,,deleterious(0),probably_damaging(0.991),-1;HDLBP,downstream_gene_variant,,ENST00000452931,,,MODIFIER,,,,-1;HDLBP,upstream_gene_variant,,ENST00000470482,,,MODIFIER,,,,-1;HDLBP,upstream_gene_variant,,ENST00000483086,,,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000471294,,,MODIFIER,,,,-1;HDLBP,non_coding_transcript_exon_variant,,ENST00000487169,,n.2022C>T,MODIFIER,,,,-1;HDLBP,non_coding_transcript_exon_variant,,ENST00000479169,,n.349C>T,MODIFIER,,,,-1;HDLBP,upstream_gene_variant,,ENST00000479894,,,MODIFIER,,,,-1;HDLBP,downstream_gene_variant,,ENST00000459788,,,MODIFIER,,,,-1	A	ENST00000391975	Transcript	missense_variant	missense_variant	2665/6372	2437/3807	813/1268	R/C	Cgc/Tgc		1		-1	HDLBP	HGNC	HGNC:4857	protein_coding	YES	CCDS2547.1	ENSP00000375836		A0A024R4E5	UPI0000000C28	NM_203346.3	deleterious(0)	probably_damaging(0.99)	19/28		Pfam_domain:PF00013;PROSITE_profiles:PS50084;SMART_domains:SM00322;Superfamily_domains:SSF54791																	MODERATE	1	SNV	1			1											PASS	GTGGCGGTGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4808548;COSM4808549	True	Unknown	A	3	1	80	241239775	241239775	G	A	1	0	0	0	0	1	0	0	0	6908	1116	39	2		2	HDLBP	2	241239775	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	349702	241239775	953754	85	1258											
MTMR14	64419	BI	GRCh38	chr3	9701907	9701907	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccagtccttccggtgccatCgggggcctgctggagcaatt	13	14	0	0	rs777595702		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1887C>T	p.=	p.I629I	ENST00000296003	19/19	24	1	23	84			MTMR14,synonymous_variant,p.I629I,ENST00000296003,NM_001077525.2,c.1887C>T,LOW,YES,,,1;MTMR14,synonymous_variant,p.I577I,ENST00000353332,NM_001077526.2,c.1731C>T,LOW,,,,1;MTMR14,synonymous_variant,p.I517I,ENST00000351233,NM_022485.4,c.1551C>T,LOW,,,,1;MTMR14,synonymous_variant,p.I271I,ENST00000420925,,c.813C>T,LOW,,,,1;MTMR14,3_prime_UTR_variant,,ENST00000617504,,c.*322C>T,MODIFIER,,,,1;CPNE9,upstream_gene_variant,,ENST00000383832,NM_153635.2,,MODIFIER,YES,,,1;CPNE9,upstream_gene_variant,,ENST00000383831,,,MODIFIER,,,,1;CPNE9,upstream_gene_variant,,ENST00000613455,,,MODIFIER,,,,1;MTMR14,3_prime_UTR_variant,,ENST00000414996,,c.*1064C>T,MODIFIER,,,,1;MTMR14,3_prime_UTR_variant,,ENST00000447144,,c.*680C>T,MODIFIER,,,,1;MTMR14,non_coding_transcript_exon_variant,,ENST00000606184,,n.2481C>T,MODIFIER,,,,1;CPNE9,upstream_gene_variant,,ENST00000491802,,,MODIFIER,,,,1	T	ENST00000296003	Transcript	synonymous_variant	synonymous_variant	2009/2494	1887/1953	629/650	I	atC/atT	rs777595702	1		1	MTMR14	HGNC	HGNC:26190	protein_coding	YES	CCDS43043.1	ENSP00000296003	Q8NCE2		UPI000007423D	NM_001077525.2			19/19																			LOW	1	SNV	1			1											PASS	GCCATCGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	9701907	9701907	C	T	1	0	0	0	0	0	0	0	1	9930	874	31	2		2	MTMR14	3	9701907	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		9701907	188593652	86	1259											
TADA3	10474	BI	GRCh38	chr3	9789751	9789751	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggggatccgtggcacgtcGatagggtcatcagtgaattc	14	8	2	1	rs760618790	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.420C>T	p.=	p.I140I	ENST00000301964	3/9	62	53	9	126			TADA3,synonymous_variant,p.I140I,ENST00000343450,NM_133480.2,c.420C>T,LOW,,,,-1;TADA3,synonymous_variant,p.I140I,ENST00000301964,NM_006354.3,c.420C>T,LOW,YES,,,-1;TADA3,synonymous_variant,p.I140I,ENST00000440161,NM_001278270.1,c.420C>T,LOW,,,,-1;ARPC4,upstream_gene_variant,,ENST00000397261,NM_005718.4,,MODIFIER,,,,1;ARPC4-TTLL3,upstream_gene_variant,,ENST00000397256,NM_001198793.1,,MODIFIER,YES,,,1;ARPC4,upstream_gene_variant,,ENST00000498623,NM_001024959.2&NM_001024960.2,,MODIFIER,,,,1;ARPC4,upstream_gene_variant,,ENST00000433034,NM_001198780.1,,MODIFIER,YES,,,1;OGG1,downstream_gene_variant,,ENST00000426518,,,MODIFIER,,,,1;TADA3,downstream_gene_variant,,ENST00000439043,,,MODIFIER,,,,-1;ARPC4,upstream_gene_variant,,ENST00000485273,,,MODIFIER,,,,1;TADA3,non_coding_transcript_exon_variant,,ENST00000492635,,n.528C>T,MODIFIER,,,,-1;TADA3,upstream_gene_variant,,ENST00000492103,,,MODIFIER,,,,-1;ARPC4,upstream_gene_variant,,ENST00000417500,,,MODIFIER,,,,1;ARPC4,upstream_gene_variant,,ENST00000440787,,,MODIFIER,,,,1;ARPC4-TTLL3,upstream_gene_variant,,ENST00000424442,,,MODIFIER,,,,1;ARPC4,upstream_gene_variant,,ENST00000467289,,,MODIFIER,,,,1;ARPC4-TTLL3,upstream_gene_variant,,ENST00000418163,,,MODIFIER,,,,1;ARPC4,upstream_gene_variant,,ENST00000479956,,,MODIFIER,,,,1	A	ENST00000301964	Transcript	synonymous_variant	synonymous_variant	979/2355	420/1299	140/432	I	atC/atT	rs760618790	1		-1	TADA3	HGNC	HGNC:19422	protein_coding	YES	CCDS2583.1	ENSP00000307684	O75528			NM_006354.3			3/9																			LOW	1	SNV	1			1	8.236e-06	8.243e-06	0	0	0	0	1.499e-05	0	0		PASS	ACGTCGATAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3598403	True	Unknown	A	2	1	80	9789751	9789751	G	A	1	0	0	0	0	0	0	0	1	15908	1048	37	2		2	TADA3	3	9789751	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	87844	9789751	188505808	87	1260											
NUP210	23225	BI	GRCh38	chr3	13328829	13328829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacatctccagagttgtCgtggaagtggacagtgaagg	15	6	1	3	rs769147767		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4228G>A	p.Asp1410Asn	p.D1410N	ENST00000254508	31/40	31	3	28	77			NUP210,missense_variant,p.D1410N,ENST00000254508,NM_024923.3,c.4228G>A,MODERATE,YES,tolerated(0.47),probably_damaging(0.996),-1	T	ENST00000254508	Transcript	missense_variant	missense_variant	4311/7193	4228/5664	1410/1887	D/N	Gac/Aac	rs769147767	1		-1	NUP210	HGNC	HGNC:30052	protein_coding	YES	CCDS33704.1	ENSP00000254508	Q8TEM1		UPI00001600AF	NM_024923.3	tolerated(0.47)	probably_damaging(0.996)	31/40																			MODERATE	1	SNV	2			1											PASS	GTTGTCGTGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	13328829	13328829	C	T	1	0	0	0	0	1	0	0	0	10825	884	31	2		2	NUP210	3	13328829	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3539078	13328829	184966730	88	1261											
ZNF860	344787	BI	GRCh38	chr3	31989507	31989507	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tagcaccgacagatatgatcGaaggcatcctggaaacaagc	10	10	0	2	rs570687729	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.428G>A	p.Arg143Gln	p.R143Q	ENST00000360311	2/2	26	23	3	78			ZNF860,missense_variant,p.R143Q,ENST00000360311,NM_001137674.2,c.428G>A,MODERATE,YES,tolerated(1),benign(0),1;OSBPL10,intron_variant,,ENST00000479173,,n.298+56984C>T,MODIFIER,,,,-1;ZNF860,downstream_gene_variant,,ENST00000489408,,,MODIFIER,,,,1	A	ENST00000360311	Transcript	missense_variant	missense_variant	977/3098	428/1899	143/632	R/Q	cGa/cAa	rs570687729	1		1	ZNF860	HGNC	HGNC:34513	protein_coding	YES	CCDS46784.1	ENSP00000373274	A6NHJ4		UPI0000D61AE9	NM_001137674.2	tolerated(1)	benign(0)	2/2				0	0		0	0	0.001										MODERATE	1	SNV	2			1	0.0002883	0.0002896	0	8.637e-05	0.0001156	0	3.012e-05	0.001109	0.001817		PASS	TGATCGAAGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM149347	True	Unknown	A	3	1	80	31989507	31989507	G	A	1	0	0	0	0	1	0	0	0	18785	1058	37	2		2	ZNF860	3	31989507	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	18660678	31989507	166306052	89	1262											
SLC22A14	9389	BI	GRCh38	chr3	38313803	38313803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgtccacttcagacacGtggtccccagcatcatggag	11	13	2	2	rs760758304	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1240G>A	p.Val414Met	p.V414M	ENST00000273173	7/10	41	1	40	110			SLC22A14,missense_variant,p.V414M,ENST00000273173,NM_004803.3,c.1240G>A,MODERATE,YES,tolerated(0.25),benign(0.02),1;SLC22A14,missense_variant,p.V414M,ENST00000448498,,c.1240G>A,MODERATE,,tolerated(0.25),benign(0.02),1	A	ENST00000273173	Transcript	missense_variant	missense_variant	1331/2202	1240/1785	414/594	V/M	Gtg/Atg	rs760758304	1		1	SLC22A14	HGNC	HGNC:8495	protein_coding	YES	CCDS2677.1	ENSP00000273173	Q9Y267		UPI00001AE9A8	NM_004803.3	tolerated(0.25)	benign(0.02)	7/10		Pfam_domain:PF00083;Pfam_domain:PF07690;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1	3.295e-05	3.296e-05	0	0	0	0	2.998e-05	0	0.0001211		PASS	GACACGTGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2986170	True	Unknown	A	3	1	80	38313803	38313803	G	A	1	0	0	0	0	1	0	0	0	14711	1145	40	1		1	SLC22A14	3	38313803	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6324296	38313803	159981756	90	1263											
BAP1	8314	BI	GRCh38	chr3	52403173	52403201	+	Frame_Shift_Del	DEL	CAGGCCTCACCATCCCCGTCTTCTCTCTG	CAGGCCTCACCATCCCCGTCTTCTCTCTG	-													ctccccactcaagggctcgcCaggcctcaccatccccgtct					novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1827_1855delCAGAGAGAAGACGGGGATGGTGAGGCCTG	p.Ser609ArgfsTer24	p.S609Rfs*24	ENST00000460680	14/17	5	1	4	78			BAP1,frameshift_variant,p.S609Rfs*24,ENST00000460680,NM_004656.3,c.1827_1855delCAGAGAGAAGACGGGGATGGTGAGGCCTG,HIGH,YES,,,-1;BAP1,frameshift_variant,p.S591Rfs*24,ENST00000296288,,c.1773_1801delCAGAGAGAAGACGGGGATGGTGAGGCCTG,HIGH,,,,-1;BAP1,frameshift_variant,p.S110Rfs*47,ENST00000478368,,c.330_358delCAGAGAGAAGACGGGGATGGTGAGGCCTG,HIGH,,,,-1;BAP1,intron_variant,,ENST00000469613,,c.120-360_120-332delCAGAGAGAAGACGGGGATGGTGAGGCCTG,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000420323,NM_015512.4,,MODIFIER,YES,,,1;BAP1,downstream_gene_variant,,ENST00000470173,,,MODIFIER,,,,-1;BAP1,upstream_gene_variant,,ENST00000615113,,,MODIFIER,,,,-1;BAP1,non_coding_transcript_exon_variant,,ENST00000466093,,n.234_262delCAGAGAGAAGACGGGGATGGTGAGGCCTG,MODIFIER,,,,-1;DNAH1,downstream_gene_variant,,ENST00000486752,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000488988,,,MODIFIER,,,,1;DNAH1,downstream_gene_variant,,ENST00000490713,,,MODIFIER,,,,1;BAP1,downstream_gene_variant,,ENST00000471532,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490804,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000483984,,,MODIFIER,,,,-1;BAP1,downstream_gene_variant,,ENST00000490917,,,MODIFIER,,,,-1	-	ENST00000460680	Transcript	frameshift_variant	frameshift_variant	2299-2327/3937	1827-1855/2190	609-619/729	SREKTGMVRPG/RX	agCAGAGAGAAGACGGGGATGGTGAGGCCTGgc/aggc		1		-1	BAP1	HGNC	HGNC:950	protein_coding	YES	CCDS2853.1	ENSP00000417132	Q92560	A0A024R305	UPI0000071B3D	NM_004656.3			14/17																			HIGH	1	deletion	1			1											PASS	GCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			False	Unknown	-	7	5	80	52403173	52403173	CAGGCCTCACCATCCCCGTCTTCTCTCTG	-	1	0	1	0	1	0	0	0	0	1463	594	21	0		0	BAP1	3	52403173	Frame_Shift_Del	DEL	CAGGCCTCACCATCCCCGTCTTCTCTCTG	TCGA-YZ-A985-01A-11D-A39W-08	14089370	52403173	145892386	91	1264											
CACNA1D	776	BI	GRCh38	chr3	53735502	53735502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccactccttccggaacaCggtaagtccccagggtgggg	13	14	0	0	rs145327253	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2750C>T	p.Thr917Met	p.T917M	ENST00000350061	20/48	9	1	8	37			CACNA1D,missense_variant,p.T937M,ENST00000288139,NM_000720.3,c.2810C>T,MODERATE,YES,tolerated(0.23),possibly_damaging(0.492),1;CACNA1D,missense_variant,p.T917M,ENST00000350061,NM_001128840.2,c.2750C>T,MODERATE,,tolerated(0.23),benign(0.232),1;CACNA1D,missense_variant,p.T917M,ENST00000422281,NM_001128839.2,c.2750C>T,MODERATE,,tolerated(0.23),benign(0.27),1;CACNA1D,missense_variant,p.T610M,ENST00000481478,,c.1829C>T,MODERATE,,tolerated(0.24),benign(0.153),1	T	ENST00000350061	Transcript	missense_variant	missense_variant;splice_region_variant	3261/7636	2750/6486	917/2161	T/M	aCg/aTg	rs145327253	1		1	CACNA1D	HGNC	HGNC:1391	protein_coding		CCDS46848.1	ENSP00000288133	Q01668		UPI000013DEF4	NM_001128840.2	tolerated(0.23)	benign(0.232)	20/48		Superfamily_domains:SSF81324								2e-04	0								MODERATE		SNV	1			1	2.471e-05	2.48e-05	0.0001939	0	0	0	0	0	6.058e-05		PASS	GAACACGGTAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	53735502	53735502	C	T	1	0	0	0	0	1	0	0	0	2229	550	19	1		1	CACNA1D	3	53735502	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1332329	53735502	144560057	92	1265											
IL17RD	54756	BI	GRCh38	chr3	57097802	57097802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctaccgtcaagggcaggcCgggcctccccgtcttggtcc	13	17	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1901G>A	p.Arg634Gln	p.R634Q	ENST00000296318	12/13	10	3	7	13			IL17RD,missense_variant,p.R634Q,ENST00000296318,NM_017563.3,c.1901G>A,MODERATE,YES,tolerated_low_confidence(0.85),benign(0),-1;IL17RD,missense_variant,p.R490Q,ENST00000320057,,c.1469G>A,MODERATE,,tolerated_low_confidence(0.82),benign(0),-1;IL17RD,missense_variant,p.R490Q,ENST00000463523,,c.1469G>A,MODERATE,,tolerated_low_confidence(0.82),benign(0),-1;IL17RD,non_coding_transcript_exon_variant,,ENST00000469841,,n.1838G>A,MODIFIER,,,,-1	T	ENST00000296318	Transcript	missense_variant	missense_variant	1990/8720	1901/2220	634/739	R/Q	cGg/cAg		1		-1	IL17RD	HGNC	HGNC:17616	protein_coding	YES	CCDS2880.2	ENSP00000296318	Q8NFM7		UPI0000047CC3	NM_017563.3	tolerated_low_confidence(0.85)	benign(0)	12/13																			MODERATE	1	SNV	1			1											PASS	CAGGCCGGGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	57097802	57097802	C	T	1	0	0	0	0	1	0	0	0	7550	652	23	2		2	IL17RD	3	57097802	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3362300	57097802	141197757	93	1266											
ROBO1	6091	BI	GRCh38	chr3	78651745	78651745	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaataccttttctgataccCgcgtaggtactagtaagtcc	7	11	1	1	rs374375350	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2799G>A	p.=	p.A933A	ENST00000464233	19/31	10	0	10	17			ROBO1,synonymous_variant,p.A813A,ENST00000436010,,c.2439G>A,LOW,,,,-1;ROBO1,synonymous_variant,p.A897A,ENST00000618833,,c.2691G>A,LOW,,,,-1;ROBO1,synonymous_variant,p.A816A,ENST00000618846,,c.2448G>A,LOW,,,,-1;ROBO1,synonymous_variant,p.A933A,ENST00000464233,NM_002941.3,c.2799G>A,LOW,YES,,,-1;ROBO1,synonymous_variant,p.A897A,ENST00000495273,NM_133631.3,c.2691G>A,LOW,,,,-1;ROBO1,synonymous_variant,p.A897A,ENST00000467549,NM_001145845.1,c.2691G>A,LOW,,,,-1;ROBO1,non_coding_transcript_exon_variant,,ENST00000498428,,n.1696G>A,MODIFIER,,,,-1	T	ENST00000464233	Transcript	synonymous_variant	synonymous_variant	2913/6742	2799/4956	933/1651	A	gcG/gcA	rs374375350	1		-1	ROBO1	HGNC	HGNC:10249	protein_coding	YES	CCDS54611.1	ENSP00000420321	Q9Y6N7		UPI00000713D9	NM_002941.3			19/31				0	0		0	0.001	0	0	1e-04								LOW	1	SNV	5			1	4.137e-05	3.5e-05	0	0	0	0	6.305e-05	0	0		PASS	ATACCCGCGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5059962;COSM5059963;COSM5059964;COSM5059965	True	Unknown	T	2	4	80	78651745	78651745	C	T	1	0	0	0	0	0	0	0	1	13691	639	23	2		2	ROBO1	3	78651745	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	21553943	78651745	119643814	94	1267											
ADCY5	111	BI	GRCh38	chr3	123330936	123330936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctccacacagcagtgggcGtggtcagcccttgcttcagg	12	13	3	0	rs552930549	by1000G;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1599C>T	p.=	p.H533H	ENST00000462833	5/21	15	1	14	23			ADCY5,synonymous_variant,p.H533H,ENST00000462833,NM_183357.2,c.1599C>T,LOW,YES,,,-1;ADCY5,synonymous_variant,p.H166H,ENST00000491190,,c.498C>T,LOW,,,,-1;ADCY5,synonymous_variant,p.H183H,ENST00000309879,NM_001199642.1,c.549C>T,LOW,,,,-1;ADCY5,synonymous_variant,p.H92H,ENST00000466617,,c.276C>T,LOW,,,,-1;ADCY5,downstream_gene_variant,,ENST00000483566,,,MODIFIER,,,,-1;ADCY5,downstream_gene_variant,,ENST00000476455,,,MODIFIER,,,,-1	A	ENST00000462833	Transcript	synonymous_variant	synonymous_variant	2812/7311	1599/3786	533/1261	H	caC/caT	rs552930549	1		-1	ADCY5	HGNC	HGNC:236	protein_coding	YES	CCDS3022.1	ENSP00000419361	O95622		UPI000015E262	NM_183357.2			5/21		Pfam_domain:PF00211;PROSITE_profiles:PS50125;SMART_domains:SM00044;Superfamily_domains:SSF55073		8e-04	0.0014		0	0.001	0										LOW	1	SNV	1			1	1.647e-05	1.652e-05	9.63e-05	8.66e-05	0	0	0	0	0		PASS	TGGGCGTGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	123330936	123330936	G	A	1	0	0	0	0	0	0	0	1	341	1136	40	1		1	ADCY5	3	123330936	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	44679191	123330936	74964623	95	1268											
SLITRK3	22865	BI	GRCh38	chr3	165188477	165188477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagcctcacccattcccGgtggttgtgtccctggaccc	12	15	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2354C>T	p.Pro785Leu	p.P785L	ENST00000241274	2/2	45	24	21	75			SLITRK3,missense_variant,p.P785L,ENST00000475390,,c.2354C>T,MODERATE,YES,tolerated(0.26),possibly_damaging(0.726),-1;SLITRK3,missense_variant,p.P785L,ENST00000241274,NM_014926.2,c.2354C>T,MODERATE,,tolerated(0.26),possibly_damaging(0.726),-1;SLITRK3,downstream_gene_variant,,ENST00000497724,,,MODIFIER,,,,-1	A	ENST00000241274	Transcript	missense_variant	missense_variant	2636/4391	2354/2934	785/977	P/L	cCg/cTg		1		-1	SLITRK3	HGNC	HGNC:23501	protein_coding		CCDS3197.1	ENSP00000241274	O94933		UPI000004F259	NM_014926.2	tolerated(0.26)	possibly_damaging(0.726)	2/2																			MODERATE		SNV	1			1											panel_of_normals	TTCCCGGTGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM76519	True	Unknown	A	3	1	80	165188477	165188477	G	A	1	0	0	0	0	1	0	0	0	15035	1116	39	2		2	SLITRK3	3	165188477	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41857541	165188477	33107082	96	1269											
MUC4	4585	BI	GRCh38	chr3	195747259	195747259	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaggaccacgaacgtccCgacccccagcagcaagaggc	12	17	0	1	rs769504147		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.16156G>A	p.Gly5386Arg	p.G5386R	ENST00000463781	25/25	45	34	11	109			MUC4,missense_variant,p.G5386R,ENST00000463781,NM_018406.6,c.16156G>A,MODERATE,YES,,benign(0.002),-1;MUC4,missense_variant,p.G5334R,ENST00000475231,,c.16000G>A,MODERATE,,,benign(0.004),-1;MUC4,missense_variant,p.G1150R,ENST00000346145,NM_004532.5,c.3448G>A,MODERATE,,deleterious_low_confidence(0.04),possibly_damaging(0.579),-1;MUC4,missense_variant,p.G1099R,ENST00000349607,NM_138297.4,c.3295G>A,MODERATE,,deleterious_low_confidence(0.04),possibly_damaging(0.476),-1;MUC4,3_prime_UTR_variant,,ENST00000478156,,c.*783G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000466475,,c.*2877G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000477756,,c.*2595G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000477086,,c.*2877G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000480843,,c.*2595G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000462323,,c.*2595G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000470451,,c.*2561G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000479406,,c.*2509G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000448861,,c.*2956G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000308466,,c.*2788G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000339251,,c.*2849G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000415455,,c.*2788G>A,MODIFIER,,,,-1;MUC4,3_prime_UTR_variant,,ENST00000392407,,c.*2717G>A,MODIFIER,,,,-1;MUC4,non_coding_transcript_exon_variant,,ENST00000464234,,n.1592G>A,MODIFIER,,,,-1;MUC4,downstream_gene_variant,,ENST00000467235,,,MODIFIER,,,,-1;MUC4,downstream_gene_variant,,ENST00000469992,,,MODIFIER,,,,-1	T	ENST00000463781	Transcript	missense_variant	missense_variant	16616/17110	16156/16239	5386/5412	G/R	Ggg/Agg	rs769504147	1		-1	MUC4	HGNC	HGNC:7514	protein_coding	YES	CCDS54700.1	ENSP00000417498		E9PDY6	UPI0001B3CB30	NM_018406.6		benign(0.002)	25/25		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	5			1	8.236e-06	8.249e-06	0	8.646e-05	0	0	0	0	0		panel_of_normals	CGTCCCGACCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM3591637;COSM3591638	True	Unknown	T	3	4	80	195747259	195747259	C	T	1	0	0	0	0	1	0	0	0	9977	652	23	2		2	MUC4	3	195747259	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30558782	195747259	2548300	97	1270											
PDE6B	5158	BI	GRCh38	chr4	653963	653963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgcgagcggtactccGtgggcctcctggacatgacc	12	14	1	1	rs199768318	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.823G>A	p.Val275Met	p.V275M	ENST00000496514	4/22	30	24	6	59			PDE6B,missense_variant,p.V275M,ENST00000255622,NM_001145291.1,c.823G>A,MODERATE,,deleterious(0),probably_damaging(1),1;PDE6B,missense_variant,p.V275M,ENST00000496514,NM_000283.3,c.823G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;PDE6B,5_prime_UTR_variant,,ENST00000429163,NM_001145292.1,c.-15G>A,MODIFIER,,,,1;PDE6B,5_prime_UTR_variant,,ENST00000488061,,c.-15G>A,MODIFIER,,,,1;PDE6B,5_prime_UTR_variant,,ENST00000487902,,c.-15G>A,MODIFIER,,,,1;PDE6B,5_prime_UTR_variant,,ENST00000465426,,c.-15G>A,MODIFIER,,,,1;RP11-1191J2.2,non_coding_transcript_exon_variant,,ENST00000468356,,n.1290C>T,MODIFIER,YES,,,-1;RP11-1191J2.2,non_coding_transcript_exon_variant,,ENST00000489312,,n.405C>T,MODIFIER,,,,-1;RP11-1191J2.2,upstream_gene_variant,,ENST00000599030,,,MODIFIER,,,,-1;RP11-1191J2.2,upstream_gene_variant,,ENST00000598370,,,MODIFIER,,,,-1;PDE6B,non_coding_transcript_exon_variant,,ENST00000476034,,n.393G>A,MODIFIER,,,,1;PDE6B,non_coding_transcript_exon_variant,,ENST00000467152,,n.221G>A,MODIFIER,,,,1;PDE6B,non_coding_transcript_exon_variant,,ENST00000474251,,n.274G>A,MODIFIER,,,,1	A	ENST00000496514	Transcript	missense_variant	missense_variant	844/3232	823/2565	275/854	V/M	Gtg/Atg	rs199768318	1		1	PDE6B	HGNC	HGNC:8786	protein_coding	YES	CCDS33932.1	ENSP00000420295	P35913		UPI0000DBEE72	NM_000283.3	deleterious(0)	probably_damaging(1)	4/22		Pfam_domain:PF01590;SMART_domains:SM00065;Superfamily_domains:SSF55781																	MODERATE	1	SNV	1			1	1.647e-05	1.658e-05	0	0	0.0001158	0	1.513e-05	0	0		PASS	ACTCCGTGGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4424550	True	Unknown	A	3	1	80	653963	653963	G	A	1	0	0	0	0	1	0	0	0	11734	1145	40	1		1	PDE6B	4	653963	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		653963	189560592	98	1271											
DGKQ	1609	BI	GRCh38	chr4	961562	961562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgtcggagccccacaggtCggcccccgagccccagctgc	13	19	0	0	rs756724535		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2479G>A	p.Asp827Asn	p.D827N	ENST00000273814	21/23	10	2	8	11			DGKQ,missense_variant,p.D827N,ENST00000273814,NM_001347.3,c.2479G>A,MODERATE,YES,tolerated(0.61),possibly_damaging(0.665),-1;DGKQ,missense_variant,p.D761N,ENST00000509465,,c.2280G>A,MODERATE,,tolerated(0.66),possibly_damaging(0.534),-1;DGKQ,missense_variant,p.D42N,ENST00000515182,,c.124G>A,MODERATE,,tolerated(0.61),benign(0.024),-1;TMEM175,downstream_gene_variant,,ENST00000622959,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000264771,NM_032326.2,,MODIFIER,YES,,,1;TMEM175,downstream_gene_variant,,ENST00000515740,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000508204,NM_001297424.1&NM_001297423.1,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000510493,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000515492,,,MODIFIER,,,,1;DGKQ,downstream_gene_variant,,ENST00000502309,,,MODIFIER,,,,-1;TMEM175,downstream_gene_variant,,ENST00000438836,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000513952,NM_001297426.1,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000452360,,,MODIFIER,,,,1	T	ENST00000273814	Transcript	missense_variant	missense_variant	2553/4636	2479/2829	827/942	D/N	Gac/Aac	rs756724535	1		-1	DGKQ	HGNC	HGNC:2856	protein_coding	YES	CCDS3342.1	ENSP00000273814	P52824		UPI00001AE9B4	NM_001347.3	tolerated(0.61)	possibly_damaging(0.665)	21/23		Pfam_domain:PF00609;SMART_domains:SM00045																	MODERATE	1	SNV	1			1	8.289e-06	1.156e-05	0.0001587	0	0	0	0	0	0		PASS	CAGGTCGGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4138558	True	Unknown	T	3	4	80	961562	961562	C	T	1	0	0	0	0	1	0	0	0	4279	884	31	2		2	DGKQ	4	961562	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	307599	961562	189252993	99	1272											
DGKQ	1609	BI	GRCh38	chr4	961742	961742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagctccacctcctgcCgctccacctgcagccggatc	10	19	0	0	rs143203696	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2408G>A	p.Arg803Gln	p.R803Q	ENST00000273814	20/23	27	18	9	55			DGKQ,missense_variant,p.R803Q,ENST00000273814,NM_001347.3,c.2408G>A,MODERATE,YES,tolerated(0.88),benign(0.004),-1;DGKQ,missense_variant,p.R737Q,ENST00000509465,,c.2209G>A,MODERATE,,tolerated(0.76),benign(0.002),-1;DGKQ,intron_variant,,ENST00000515182,,c.108-164G>A,MODIFIER,,,,-1;TMEM175,downstream_gene_variant,,ENST00000622959,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000264771,NM_032326.2,,MODIFIER,YES,,,1;TMEM175,downstream_gene_variant,,ENST00000515740,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000508204,NM_001297424.1&NM_001297423.1,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000510493,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000515492,,,MODIFIER,,,,1;DGKQ,downstream_gene_variant,,ENST00000502309,,,MODIFIER,,,,-1;TMEM175,downstream_gene_variant,,ENST00000438836,,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000513952,NM_001297426.1,,MODIFIER,,,,1;TMEM175,downstream_gene_variant,,ENST00000452360,,,MODIFIER,,,,1	T	ENST00000273814	Transcript	missense_variant	missense_variant	2482/4636	2408/2829	803/942	R/Q	cGg/cAg	rs143203696	1		-1	DGKQ	HGNC	HGNC:2856	protein_coding	YES	CCDS3342.1	ENSP00000273814	P52824		UPI00001AE9B4	NM_001347.3	tolerated(0.88)	benign(0.004)	20/23		Pfam_domain:PF00609;SMART_domains:SM00045	2e-04	8e-04	0		0	0	0	9e-04	0								MODERATE	1	SNV	1			1	9.885e-05	9.188e-05	0.0008837	0	0	0	1.525e-05	0	6.125e-05		PASS	CCTGCCGCTCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	961742	961742	C	T	1	0	0	0	0	1	0	0	0	4279	652	23	2		2	DGKQ	4	961742	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	180	961742	189252813	100	1273											
TNIP2	79155	BI	GRCh38	chr4	2744727	2744727	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatctgcacccgctccaaCgcagcatcccgggccgtcct	9	19	1	0	rs755915638	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.876G>A	p.=	p.A292A	ENST00000315423	4/6	47	33	14	75			TNIP2,synonymous_variant,p.A185A,ENST00000510267,NM_001161527.1,c.555G>A,LOW,,,,-1;TNIP2,synonymous_variant,p.A292A,ENST00000315423,NM_024309.3,c.876G>A,LOW,YES,,,-1;TNIP2,intron_variant,,ENST00000503235,NM_001292016.1,c.658-221G>A,MODIFIER,,,,-1;TNIP2,non_coding_transcript_exon_variant,,ENST00000505186,,n.439G>A,MODIFIER,,,,-1;TNIP2,non_coding_transcript_exon_variant,,ENST00000502256,,n.137G>A,MODIFIER,,,,-1;TNIP2,downstream_gene_variant,,ENST00000511352,,,MODIFIER,,,,-1;TNIP2,downstream_gene_variant,,ENST00000507686,,,MODIFIER,,,,-1	T	ENST00000315423	Transcript	synonymous_variant	synonymous_variant	963/1974	876/1290	292/429	A	gcG/gcA	rs755915638	1		-1	TNIP2	HGNC	HGNC:19118	protein_coding	YES	CCDS3362.1	ENSP00000321203	Q8NFZ5		UPI00000702D2	NM_024309.3			4/6		Coiled-coils_(Ncoils):ncoils																	LOW	1	SNV	1			1	1.647e-05	1.674e-05	0	0	0	0	3.045e-05	0	0		PASS	TCCAACGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4124273	True	Unknown	T	2	4	80	2744727	2744727	C	T	1	0	0	0	0	0	0	0	1	16788	523	19	1		1	TNIP2	4	2744727	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1782985	2744727	187469828	101	1274											
HTT	3064	BI	GRCh38	chr4	3121326	3121326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcagaacgcctccaccCgagcttctgcaaaccctgac	6	18	3	2	rs759711755		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1167C>T	p.=	p.P389P	ENST00000355072	9/67	38	19	19	57			HTT,synonymous_variant,p.P389P,ENST00000355072,NM_002111.6,c.1167C>T,LOW,YES,,,1;HTT,non_coding_transcript_exon_variant,,ENST00000506137,,n.395C>T,MODIFIER,,,,1;HTT,upstream_gene_variant,,ENST00000512909,,,MODIFIER,,,,1	T	ENST00000355072	Transcript	synonymous_variant	synonymous_variant	1312/13474	1167/9429	389/3142	P	ccC/ccT	rs759711755	1		1	HTT	HGNC	HGNC:4851	protein_coding	YES	CCDS43206.1	ENSP00000347184	P42858		UPI000013D567	NM_002111.6			9/67		Superfamily_domains:SSF48371																	LOW	1	SNV	1			1											PASS	CCACCCGAGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	3121326	3121326	C	T	1	0	0	0	0	0	0	0	1	7353	639	23	2		2	HTT	4	3121326	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	376599	3121326	187093229	102	1275											
PDGFRA	5156	BI	GRCh38	chr4	54280424	54280424	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaggtttctaaatattcCgacatccagagatcactcta	6	9	3	2	rs149659832	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2265C>T	p.=	p.S755S	ENST00000257290	16/23	58	34	24	63			PDGFRA,synonymous_variant,p.S755S,ENST00000257290,NM_006206.4,c.2265C>T,LOW,YES,,,1;FIP1L1,synonymous_variant,p.S515S,ENST00000507166,,c.1545C>T,LOW,,,,1;PDGFRA,3_prime_UTR_variant,,ENST00000509490,,c.*186C>T,MODIFIER,,,,1;PDGFRA,non_coding_transcript_exon_variant,,ENST00000509092,,n.2083C>T,MODIFIER,,,,1;PDGFRA,non_coding_transcript_exon_variant,,ENST00000507536,,n.691C>T,MODIFIER,,,,1;PDGFRA,downstream_gene_variant,,ENST00000461294,,,MODIFIER,,,,1	T	ENST00000257290	Transcript	synonymous_variant	synonymous_variant	2596/6576	2265/3270	755/1089	S	tcC/tcT	rs149659832	1		1	PDGFRA	HGNC	HGNC:8803	protein_coding	YES	CCDS3495.1	ENSP00000257290	P16234		UPI0000131793	NM_006206.4			16/23		Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112;PIRSF_domain:PIRSF000615								5e-04	1e-04								LOW	1	SNV	1			1	0.0001153	0.0001157	0.0004814	8.676e-05	0	0	0.0001202	0	0		PASS	TATTCCGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	2	4	80	54280424	54280424	C	T	1	0	0	0	0	0	0	0	1	11749	639	23	2		2	PDGFRA	4	54280424	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	51159098	54280424	135934131	103	1276											
UNC5C	8633	BI	GRCh38	chr4	95242577	95242577	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaccacttgctccatggCgtccacctgccatccactgc	8	17	0	1	rs760640387	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.960G>A	p.=	p.T320T	ENST00000453304	7/16	22	14	8	25			UNC5C,synonymous_variant,p.T320T,ENST00000453304,NM_003728.3,c.960G>A,LOW,YES,,,-1;UNC5C,synonymous_variant,p.T279T,ENST00000610318,,c.837G>A,LOW,,,,-1;UNC5C,synonymous_variant,p.T320T,ENST00000513796,,c.960G>A,LOW,,,,-1;UNC5C,synonymous_variant,p.T320T,ENST00000506749,,c.960G>A,LOW,,,,-1	T	ENST00000453304	Transcript	synonymous_variant	synonymous_variant	1309/9875	960/2796	320/931	T	acG/acA	rs760640387	1		-1	UNC5C	HGNC	HGNC:12569	protein_coding	YES	CCDS3643.1	ENSP00000406022	O95185			NM_003728.3			7/16		Pfam_domain:PF00090;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	LOW	1	SNV	1			1	4.951e-05	9.554e-05	0	0.0003577	0.0002065	0	8.854e-05	0	0		PASS	CATGGCGTCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1059098	True	Unknown	T	2	4	80	95242577	95242577	C	T	1	0	0	0	0	0	0	0	1	17517	755	27	2		2	UNC5C	4	95242577	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	40962153	95242577	94971978	104	1277											
EGF	1950	BI	GRCh38	chr4	109960990	109960990	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgggaaacgatgtcatcGtaagttatagcaacaagtat	10	5	1	1	rs764061176	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1189+1G>A		p.X397_splice	ENST00000265171		99	92	7	91			EGF,splice_donor_variant,p.X397_splice,ENST00000265171,NM_001963.4,c.1189+1G>A,HIGH,YES,,,1;EGF,splice_donor_variant,p.X355_splice,ENST00000509793,NM_001178131.1,c.1063+1G>A,HIGH,,,,1;EGF,splice_donor_variant,p.X397_splice,ENST00000503392,NM_001178130.1,c.1189+1G>A,HIGH,,,,1;EGF,splice_donor_variant,,ENST00000504633,,n.427+1G>A,HIGH,,,,1	A	ENST00000265171	Transcript	splice_donor_variant	splice_donor_variant	-/4880	1189/3624	397/1207			rs764061176	1		1	EGF	HGNC	HGNC:3229	protein_coding	YES	CCDS3689.1	ENSP00000265171	P01133		UPI000013D5C8	NM_001963.4				7/23																		HIGH	1	SNV	1			1	1.648e-05	1.653e-05	0	8.721e-05	0.0001159	0	0	0	0		PASS	TCATCGTAAGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	NonExonic		True	Unknown	A	5	1	80	109960990	109960990	G	A	1	0	0	0	0	0	0	1	0	4798	1159	40	1		1	EGF	4	109960990	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14718413	109960990	80253565	105	1278											
C4orf32	132720	BI	GRCh38	chr4	112186823	112186823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaggatgtattttggagaacGaatagtggaaccagtaatag	12	3	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.284G>A	p.Arg95Gln	p.R95Q	ENST00000309733	2/2	161	129	32	181			C4orf32,missense_variant,p.R95Q,ENST00000309733,NM_152400.2,c.284G>A,MODERATE,YES,tolerated(0.14),benign(0.359),1	A	ENST00000309733	Transcript	missense_variant	missense_variant	468/8901	284/399	95/132	R/Q	cGa/cAa		1		1	C4orf32	HGNC	HGNC:26813	protein_coding	YES	CCDS3695.1	ENSP00000310182	Q8N8J7		UPI000013EF13	NM_152400.2	tolerated(0.14)	benign(0.359)	2/2																			MODERATE	1	SNV	1			1											PASS	AGAACGAATAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3599169	True	Unknown	A	3	1	80	112186823	112186823	G	A	1	0	0	0	0	1	0	0	0	2082	1058	37	2		2	C4orf32	4	112186823	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2225833	112186823	78027732	106	1279											
ANKRD50	57182	BI	GRCh38	chr4	124671391	124671391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacgccagcataaagtagtGcagaaactacctcagtatgg	9	9	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1886C>T	p.Ala629Val	p.A629V	ENST00000504087	4/5	82	49	33	93			ANKRD50,missense_variant,p.A629V,ENST00000504087,NM_020337.2,c.1886C>T,MODERATE,YES,tolerated(1),benign(0.173),-1;ANKRD50,missense_variant,p.A450V,ENST00000515641,NM_001167882.1,c.1349C>T,MODERATE,,tolerated(1),benign(0.173),-1	A	ENST00000504087	Transcript	missense_variant	missense_variant	2924/8794	1886/4290	629/1429	A/V	gCa/gTa		1		-1	ANKRD50	HGNC	HGNC:29223	protein_coding	YES	CCDS34060.1	ENSP00000425658	Q9ULJ7		UPI00002377E8	NM_020337.2	tolerated(1)	benign(0.173)	4/5		Pfam_domain:PF00023;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;SMART_domains:SM00248;Superfamily_domains:SSF48403																	MODERATE	1	SNV	2			1											PASS	GTAGTGCAGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	124671391	124671391	G	A	1	0	0	0	0	1	0	0	0	781	1319	46	3		3	ANKRD50	4	124671391	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12484568	124671391	65543164	107	1280											
ELMOD2	255520	BI	GRCh38	chr4	140540191	140540191	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaatcttctaatgcccacGaagaagttaaacgctagaat	8	8	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.423G>A	p.=	p.T141T	ENST00000323570	6/9	42	38	4	54			ELMOD2,synonymous_variant,p.T141T,ENST00000323570,NM_153702.3,c.423G>A,LOW,YES,,,1;ELMOD2,synonymous_variant,p.T141T,ENST00000502397,,c.423G>A,LOW,,,,1;ELMOD2,synonymous_variant,p.T64T,ENST00000513606,,c.192G>A,LOW,,,,1;ELMOD2,non_coding_transcript_exon_variant,,ENST00000512057,,n.568G>A,MODIFIER,,,,1;ELMOD2,upstream_gene_variant,,ENST00000502290,,,MODIFIER,,,,1	A	ENST00000323570	Transcript	synonymous_variant	synonymous_variant	555/4409	423/882	141/293	T	acG/acA		1		1	ELMOD2	HGNC	HGNC:28111	protein_coding	YES	CCDS3752.1	ENSP00000326342	Q8IZ81		UPI0000074163	NM_153702.3			6/9		Pfam_domain:PF04727																	LOW	1	SNV	1			1											PASS	CCCACGAAGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1051456	True	Unknown	A	2	1	80	140540191	140540191	G	A	1	0	0	0	0	0	0	0	1	4903	1045	37	2		2	ELMOD2	4	140540191	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15868800	140540191	49674364	108	1281											
OTUD4	54726	BI	GRCh38	chr4	145137510	145137510	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtcgccctctgacatttcGatggtactgataaccttcat	8	11	2	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3265C>T	p.Arg1089Ter	p.R1089*	ENST00000447906	21/21	114	93	21	115			OTUD4,stop_gained,p.R1024*,ENST00000454497,NM_001102653.1,c.3070C>T,HIGH,YES,,,-1;OTUD4,stop_gained,p.R1089*,ENST00000447906,,c.3265C>T,HIGH,,,,-1;OTUD4,intron_variant,,ENST00000455611,,n.2028+2441C>T,MODIFIER,,,,-1	A	ENST00000447906	Transcript	stop_gained	stop_gained	3453/3829	3265/3345	1089/1114	R/*	Cga/Tga		1		-1	OTUD4	HGNC	HGNC:24949	protein_coding			ENSP00000395487	Q01804		UPI0000E825C1				21/21		Low_complexity_(Seg):Seg																	HIGH		SNV	5			1											PASS	ATTTCGATGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	145137510	145137510	G	A	1	0	0	0	0	0	1	0	0	11383	1066	37	2		2	OTUD4	4	145137510	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4597319	145137510	45077045	109	1282											
FBXW7	55294	BI	GRCh38	chr4	152326214	152326214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaccctaagagtggcatctCgagaaccgctaacaactctg	8	12	2	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1436G>A	p.Arg479Gln	p.R479Q	ENST00000281708	10/12	42	35	7	54			FBXW7,missense_variant,p.R479Q,ENST00000281708,NM_033632.3,c.1436G>A,MODERATE,YES,deleterious(0.03),probably_damaging(1),-1;FBXW7,missense_variant,p.R399Q,ENST00000263981,NM_018315.4,c.1196G>A,MODERATE,,deleterious(0.03),probably_damaging(1),-1;FBXW7,missense_variant,p.R361Q,ENST00000296555,NM_001013415.1,c.1082G>A,MODERATE,,deleterious(0.04),probably_damaging(1),-1;FBXW7,missense_variant,p.R479Q,ENST00000603548,,c.1436G>A,MODERATE,,deleterious(0.03),probably_damaging(1),-1;FBXW7,missense_variant,p.R479Q,ENST00000603841,,c.1436G>A,MODERATE,,deleterious(0.03),probably_damaging(1),-1;FBXW7,missense_variant,p.R303Q,ENST00000393956,,c.908G>A,MODERATE,,tolerated(0.05),probably_damaging(1),-1;FBXW7,non_coding_transcript_exon_variant,,ENST00000603821,,n.884G>A,MODIFIER,,,,-1;FBXW7,downstream_gene_variant,,ENST00000604069,,,MODIFIER,,,,-1;FBXW7,upstream_gene_variant,,ENST00000604316,,,MODIFIER,,,,-1	T	ENST00000281708	Transcript	missense_variant	missense_variant	2666/4976	1436/2124	479/707	R/Q	cGa/cAa		1		-1	FBXW7	HGNC	HGNC:16712	protein_coding	YES	CCDS3777.1	ENSP00000281708	Q969H0		UPI000007007E	NM_033632.3	deleterious(0.03)	probably_damaging(1)	10/12		Pfam_domain:PF00400;Prints_domain:PR00320;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1											PASS	CATCTCGAGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1154291;COSM22974;COSM447498;COSM447499;COSM94297	True	Unknown	T	3	4	80	152326214	152326214	C	T	1	0	0	0	0	1	0	0	0	5632	884	31	2		2	FBXW7	4	152326214	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7188704	152326214	37888341	110	1283											
LRP2BP	55805	BI	GRCh38	chr4	185374341	185374341	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcttcctcatttgatcGtttaacaccttttccttcat	3	12	3	1	rs201973995	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.451C>T	p.Arg151Ter	p.R151*	ENST00000328559	4/8	68	41	27	77			LRP2BP,stop_gained,p.R151*,ENST00000328559,NM_018409.3,c.451C>T,HIGH,YES,,,-1;LRP2BP,stop_gained,p.R125*,ENST00000510776,,c.373C>T,HIGH,,,,-1;LRP2BP,stop_gained,p.R151*,ENST00000505916,,c.451C>T,HIGH,,,,-1;LRP2BP,stop_gained,p.R151*,ENST00000511404,,c.451C>T,HIGH,,,,-1;RP11-714G18.1,intron_variant,,ENST00000514884,,n.242+3276G>A,MODIFIER,YES,,,1;SNX25,downstream_gene_variant,,ENST00000504959,,,MODIFIER,,,,1	A	ENST00000328559	Transcript	stop_gained	stop_gained	1263/5157	451/1044	151/347	R/*	Cga/Tga	rs201973995	1		-1	LRP2BP	HGNC	HGNC:25434	protein_coding	YES	CCDS3840.1	ENSP00000332681	Q9P2M1		UPI00001BB2BB	NM_018409.3			4/8		Pfam_domain:PF08238;SMART_domains:SM00671;Superfamily_domains:SSF81901	4e-04	0.0015	0		0	0	0	5e-04	0								HIGH	1	SNV	1			1	8.236e-05	8.237e-05	0.0004808	0	0	0	7.492e-05	0	0		PASS	TGATCGTTTAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	4	1	80	185374341	185374341	G	A	1	0	0	0	0	0	1	0	0	8852	1153	40	1		1	LRP2BP	4	185374341	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	33048127	185374341	4840214	111	1284											
SLC9A3	6550	BI	GRCh38	chr5	476341	476341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtttctcgtcctccGtgggcgtgagctcgtgtcgg	15	12	1	1	rs150973602	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1928C>T	p.Thr643Met	p.T643M	ENST00000264938	13/17	109	65	44	129			SLC9A3,missense_variant,p.T643M,ENST00000264938,NM_004174.2,c.1928C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.508),-1;SLC9A3,missense_variant,p.T634M,ENST00000514375,NM_001284351.1,c.1901C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.508),-1;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000607286,,n.457G>A,MODIFIER,,,,1;CTD-2228K2.7,non_coding_transcript_exon_variant,,ENST00000606319,,n.328G>A,MODIFIER,,,,1;PP7080,upstream_gene_variant,,ENST00000342584,,,MODIFIER,YES,,,-1;PP7080,upstream_gene_variant,,ENST00000510604,,,MODIFIER,,,,-1;CTD-2228K2.7,upstream_gene_variant,,ENST00000606288,,,MODIFIER,,,,1;PP7080,upstream_gene_variant,,ENST00000510714,,,MODIFIER,,,,-1;PP7080,upstream_gene_variant,,ENST00000502511,,,MODIFIER,,,,-1;CTD-2228K2.7,upstream_gene_variant,,ENST00000607005,,,MODIFIER,,,,1;EXOC3,downstream_gene_variant,,ENST00000509294,,,MODIFIER,,,,1;EXOC3,downstream_gene_variant,,ENST00000515601,,,MODIFIER,,,,1;EXOC3,downstream_gene_variant,,ENST00000503889,,,MODIFIER,,,,1;CTD-2228K2.7,upstream_gene_variant,,ENST00000534918,,,MODIFIER,YES,,,1;CTD-2228K2.7,upstream_gene_variant,,ENST00000606074,,,MODIFIER,,,,1;CTD-2228K2.7,upstream_gene_variant,,ENST00000606107,,,MODIFIER,,,,1;SLC9A3,downstream_gene_variant,,ENST00000507407,,,MODIFIER,,,,-1	A	ENST00000264938	Transcript	missense_variant	missense_variant	1938/2584	1928/2505	643/834	T/M	aCg/aTg	rs150973602	1		-1	SLC9A3	HGNC	HGNC:11073	protein_coding	YES	CCDS3855.1	ENSP00000264938	P48764		UPI000013D597	NM_004174.2	deleterious(0.01)	possibly_damaging(0.508)	13/17		TIGRFAM_domain:TIGR00840;Superfamily_domains:SSF55136								2e-04	0								MODERATE	1	SNV	1			1	2.471e-05	2.489e-05	9.775e-05	8.675e-05	0	0	1.511e-05	0	0		PASS	CCTCCGTGGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	476341	476341	G	A	1	0	0	0	0	1	0	0	0	14995	1145	40	1		1	SLC9A3	5	476341	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		476341	181061918	112	1285											
LPCAT1	79888	BI	GRCh38	chr5	1501569	1501569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcggcaaccaggagcCggaccgggaagagcgtcagt	17	11	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.170G>A	p.Arg57Gln	p.R57Q	ENST00000283415	2/14	37	24	13	78			LPCAT1,missense_variant,p.R57Q,ENST00000283415,NM_024830.3,c.170G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;LPCAT1,non_coding_transcript_exon_variant,,ENST00000514484,,n.200G>A,MODIFIER,,,,-1;LPCAT1,missense_variant,p.R57Q,ENST00000475622,,c.170G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1	T	ENST00000283415	Transcript	missense_variant	missense_variant	303/3966	170/1605	57/534	R/Q	cGg/cAg		1		-1	LPCAT1	HGNC	HGNC:25718	protein_coding	YES	CCDS3864.1	ENSP00000283415	Q8NF37		UPI000004771C	NM_024830.3	deleterious(0)	probably_damaging(0.999)	2/14		Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	GGAGCCGGACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1619857	True	Unknown	T	3	4	80	1501569	1501569	C	T	1	0	0	0	0	1	0	0	0	8813	652	23	2		2	LPCAT1	5	1501569	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1025228	1501569	180036690	113	1286											
TRIO	7204	BI	GRCh38	chr5	14508240	14508240	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggaggaccccgccaagCgtccctcggctgcgctggcc	14	17	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.9112C>T	p.Arg3038Cys	p.R3038C	ENST00000344204	57/57	38	33	5	64			TRIO,missense_variant,p.R3038C,ENST00000344204,NM_007118.2,c.9112C>T,MODERATE,YES,,unknown(0),1;TRIO,missense_variant,p.R537C,ENST00000344135,,c.1609C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;TRIO,intron_variant,,ENST00000513206,,c.7610+5583C>T,MODIFIER,,,,1;TRIO,intron_variant,,ENST00000620511,,c.706-1169C>T,MODIFIER,,,,1;TRIO,3_prime_UTR_variant,,ENST00000512070,,c.*1475C>T,MODIFIER,,,,1;TRIO,non_coding_transcript_exon_variant,,ENST00000508717,,n.766C>T,MODIFIER,,,,1;TRIO,downstream_gene_variant,,ENST00000508283,,,MODIFIER,,,,1	T	ENST00000344204	Transcript	missense_variant	missense_variant	9136/11100	9112/9294	3038/3097	R/C	Cgt/Tgt		1		1	TRIO	HGNC	HGNC:12303	protein_coding	YES	CCDS3883.1	ENSP00000339299	O75962		UPI000034ECE6	NM_007118.2		unknown(0)	57/57		Pfam_domain:PF00069;Pfam_domain:PF07714;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE	1	SNV	1			1											PASS	CCAAGCGTCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	14508240	14508240	C	T	1	0	0	0	0	1	0	0	0	17049	768	27	2		2	TRIO	5	14508240	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13006671	14508240	167030019	114	1287											
CDH18	1016	BI	GRCh38	chr5	19721362	19721362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaacctgttttagggtcgaCggagaagtagggttgtcctt	13	7	0	1	rs750768779		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.628G>A	p.Val210Ile	p.V210I	ENST00000274170	3/11	113	102	11	119			CDH18,missense_variant,p.V210I,ENST00000507958,NM_001291956.1,c.628G>A,MODERATE,YES,tolerated(0.1),probably_damaging(0.963),-1;CDH18,missense_variant,p.V210I,ENST00000382275,NM_004934.3,c.628G>A,MODERATE,,tolerated(0.1),probably_damaging(0.963),-1;CDH18,missense_variant,p.V210I,ENST00000274170,,c.628G>A,MODERATE,,tolerated(0.1),probably_damaging(0.963),-1;CDH18,missense_variant,p.V210I,ENST00000506372,NM_001291957.1,c.628G>A,MODERATE,,tolerated(0.08),probably_damaging(0.963),-1;CDH18,missense_variant,p.V210I,ENST00000502796,NM_001167667.1,c.628G>A,MODERATE,,tolerated(0.09),probably_damaging(0.963),-1;CDH18,missense_variant,p.V210I,ENST00000511273,,c.628G>A,MODERATE,,tolerated(0.09),probably_damaging(0.963),-1;CDH18,missense_variant,p.V156I,ENST00000515257,,c.466G>A,MODERATE,,tolerated(0.09),probably_damaging(0.91),-1;CDH18,downstream_gene_variant,,ENST00000508350,,,MODIFIER,,,,-1	T	ENST00000274170	Transcript	missense_variant	missense_variant	886/2809	628/2373	210/790	V/I	Gtc/Atc	rs750768779	1		-1	CDH18	HGNC	HGNC:1757	protein_coding		CCDS3889.1	ENSP00000274170	Q13634				tolerated(0.1)	probably_damaging(0.963)	3/11		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE		SNV	1			1	8.236e-06	8.251e-06	0	0	0	0.0001512	0	0	0		PASS	GTCGACGGAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM182561;COSM3854517	True	Unknown	T	3	4	80	19721362	19721362	C	T	1	0	0	0	0	1	0	0	0	2806	536	19	1		1	CDH18	5	19721362	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5213122	19721362	161816897	115	1288											
PDZD2	23037	BI	GRCh38	chr5	32090571	32090571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattgggaggcggtcttccGgcagcattgtttccgggagc	15	11	1	0	rs761908408	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7123G>A	p.Gly2375Ser	p.G2375S	ENST00000438447	20/25	47	40	7	47			PDZD2,missense_variant,p.G2375S,ENST00000438447,NM_178140.2,c.7123G>A,MODERATE,YES,tolerated(0.17),possibly_damaging(0.837),1	A	ENST00000438447	Transcript	missense_variant	missense_variant	7511/11704	7123/8520	2375/2839	G/S	Ggc/Agc	rs761908408	1		1	PDZD2	HGNC	HGNC:18486	protein_coding	YES	CCDS34137.1	ENSP00000402033	O15018	A0A024RE15		NM_178140.2	tolerated(0.17)	possibly_damaging(0.837)	20/25		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	2.471e-05	1.656e-05	0	0	0.000116	0	0	0	6.066e-05		PASS	CTTCCGGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1734246	True	Unknown	A	3	1	80	32090571	32090571	G	A	1	0	0	0	0	1	0	0	0	11789	1116	39	2		2	PDZD2	5	32090571	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12369209	32090571	149447688	116	1289											
RANBP3L	202151	BI	GRCh38	chr5	36257482	36257482	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaaagttgacaggaaatttCggaatggatttgaatggttt	11	2	0	2	rs138358489	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.744G>A	p.=	p.P248P	ENST00000296604	9/14	30	18	12	38			RANBP3L,synonymous_variant,p.P248P,ENST00000296604,NM_145000.3,c.744G>A,LOW,,,,-1;RANBP3L,synonymous_variant,p.P273P,ENST00000502994,NM_001161429.1,c.819G>A,LOW,YES,,,-1;RANBP3L,synonymous_variant,p.P248P,ENST00000515759,,c.744G>A,LOW,,,,-1	T	ENST00000296604	Transcript	synonymous_variant	synonymous_variant	1230/3104	744/1398	248/465	P	ccG/ccA	rs138358489	1		-1	RANBP3L	HGNC	HGNC:26353	protein_coding		CCDS3918.1	ENSP00000296604	Q86VV4		UPI000020C984	NM_145000.3			9/14				0.0091	0		0	0	0	0.0104	0								LOW		SNV	1			1	0.001211	0.001221	0.01107	0.002088	0.0002322	0	9.073e-05	0	0.0001215		panel_of_normals	AATTTCGGAAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM5778402	True	Unknown	T	2	4	80	36257482	36257482	C	T	1	0	0	0	0	0	0	0	1	13189	871	31	2		2	RANBP3L	5	36257482	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4166911	36257482	145280777	117	1290											
ITGA2	3673	BI	GRCh38	chr5	53062848	53062848	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gataaagacaccattacagaCgtgctcttggtaggtgcacc	10	10	1	2	rs371281604	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1521C>T	p.=	p.D507D	ENST00000296585	13/30	60	31	29	113			ITGA2,synonymous_variant,p.D507D,ENST00000296585,NM_002203.3,c.1521C>T,LOW,YES,,,1;ITGA2,synonymous_variant,p.D507D,ENST00000509960,,c.1521C>T,LOW,,,,1;ITGA2,synonymous_variant,p.D507D,ENST00000510722,,c.1521C>T,LOW,,,,1;ITGA2,synonymous_variant,p.D507D,ENST00000509814,,c.1521C>T,LOW,,,,1;ITGA2,3_prime_UTR_variant,,ENST00000503810,,c.*865C>T,MODIFIER,,,,1;ITGA2,3_prime_UTR_variant,,ENST00000513685,,c.*1235C>T,MODIFIER,,,,1	T	ENST00000296585	Transcript	synonymous_variant	synonymous_variant	1664/7869	1521/3546	507/1181	D	gaC/gaT	rs371281604	1		1	ITGA2	HGNC	HGNC:6137	protein_coding	YES	CCDS3957.1	ENSP00000296585	P17301		UPI0000169C36	NM_002203.3			13/30		SMART_domains:SM00191;Superfamily_domains:SSF69318								0	1e-04								LOW	1	SNV	1			1	4.118e-05	4.128e-05	0	0	0	0	7.501e-05	0	0		PASS	ACAGACGTGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	53062848	53062848	C	T	1	0	0	0	0	0	0	0	1	7782	535	19	1		1	ITGA2	5	53062848	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	16805366	53062848	128475411	118	1291											
ESM1	11082	BI	GRCh38	chr5	54985236	54985257	+	Frame_Shift_Del	DEL	TTCACCAAAAGGATCCTCCCCA	TTCACCAAAAGGATCCTCCCCA	-													cctttgcagataccaaactcTtcaccaaaaggatcctcccc					novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.261_282delTGGGGAGGATCCTTTTGGTGAA	p.Asn87LysfsTer37	p.N87Kfs*37	ENST00000381405	1/3	142	130	12	152			ESM1,frameshift_variant,p.N87Kfs*37,ENST00000381405,NM_007036.4,c.261_282delTGGGGAGGATCCTTTTGGTGAA,HIGH,YES,,,-1;ESM1,frameshift_variant,p.N87Kfs*19,ENST00000381403,NM_001135604.1,c.261_282delTGGGGAGGATCCTTTTGGTGAA,HIGH,,,,-1;ESM1,coding_sequence_variant,,ENST00000601836,,,MODIFIER,,,,-1;ESM1,intron_variant,,ENST00000598310,,n.230-5822_230-5801delTGGGGAGGATCCTTTTGGTGAA,MODIFIER,,,,-1	-	ENST00000381405	Transcript	frameshift_variant	frameshift_variant	407-428/2169	261-282/555	87-94/184	NGEDPFGE/X	aaTGGGGAGGATCCTTTTGGTGAA/aa		1		-1	ESM1	HGNC	HGNC:3466	protein_coding	YES	CCDS3963.1	ENSP00000370812	Q9NQ30		UPI000012A1BA	NM_007036.4			1/3		PROSITE_profiles:PS50311;SMART_domains:SM00121																	HIGH	1	deletion	1			1											PASS	AAACTCTTCACCAAAAGGATCCTCCCCATTAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			False	Unknown	-	7	5	80	54985236	54985236	TTCACCAAAAGGATCCTCCCCA	-	1	0	1	0	1	0	0	0	0	5114	1606	56	0		0	ESM1	5	54985236	Frame_Shift_Del	DEL	TTCACCAAAAGGATCCTCCCCA	TCGA-YZ-A985-01A-11D-A39W-08	1922388	54985236	126553023	119	1292											
CDC20B	166979	BI	GRCh38	chr5	55124901	55124901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtccatcactgcagcCgctggaaagcagcctgccat	10	15	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1117G>A	p.Gly373Ser	p.G373S	ENST00000381375	9/12	84	74	10	89			CDC20B,missense_variant,p.G373S,ENST00000296733,NM_152623.2,c.1117G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;CDC20B,missense_variant,p.G373S,ENST00000381375,NM_001170402.1,c.1117G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;CDC20B,missense_variant,p.G373S,ENST00000322374,NM_001145734.2,c.1117G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CDC20B,3_prime_UTR_variant,,ENST00000513180,,c.*84G>A,MODIFIER,,,,-1	T	ENST00000381375	Transcript	missense_variant	missense_variant	1263/2591	1117/1560	373/519	G/S	Ggc/Agc		1		-1	CDC20B	HGNC	HGNC:24222	protein_coding	YES	CCDS54852.1	ENSP00000370781	Q86Y33		UPI0000D61625	NM_001170402.1	deleterious(0)	probably_damaging(0.999)	9/12		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1											PASS	GCAGCCGCTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	55124901	55124901	C	T	1	0	0	0	0	1	0	0	0	2763	652	23	2		2	CDC20B	5	55124901	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	139665	55124901	126413358	120	1293											
TTC37	9652	BI	GRCh38	chr5	95523274	95523274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagccaggcccattttgccGttccagcacttgccttttga	8	13	0	1	rs143193581	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1685C>T	p.Thr562Met	p.T562M	ENST00000358746	18/43	190	105	85	235			TTC37,missense_variant,p.T562M,ENST00000358746,NM_014639.3,c.1685C>T,MODERATE,YES,deleterious(0.04),possibly_damaging(0.77),-1;TTC37,missense_variant,p.T514M,ENST00000514952,,c.1541C>T,MODERATE,,tolerated(0.06),possibly_damaging(0.627),-1;RNU6-308P,downstream_gene_variant,,ENST00000390957,,,MODIFIER,YES,,,1;TTC37,downstream_gene_variant,,ENST00000504421,,,MODIFIER,,,,-1;TTC37,synonymous_variant,p.N124N,ENST00000505578,,c.372C>T,LOW,,,,-1;TTC37,3_prime_UTR_variant,,ENST00000513232,,c.*400C>T,MODIFIER,,,,-1;TTC37,upstream_gene_variant,,ENST00000507805,,,MODIFIER,,,,-1	A	ENST00000358746	Transcript	missense_variant	missense_variant	1984/5706	1685/4695	562/1564	T/M	aCg/aTg	rs143193581	1		-1	TTC37	HGNC	HGNC:23639	protein_coding	YES	CCDS4072.1	ENSP00000351596	Q6PGP7		UPI00000709BD	NM_014639.3	deleterious(0.04)	possibly_damaging(0.77)	18/43		PROSITE_profiles:PS50293;Superfamily_domains:SSF48452								5e-04	0								MODERATE	1	SNV	1			1	0.0001071	0.0001071	0.0001922	0	0.0001156	0	7.493e-05	0.001101	0.0002423		PASS	TTGCCGTTCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	95523274	95523274	G	A	1	0	0	0	0	1	0	0	0	17214	1145	40	1		1	TTC37	5	95523274	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	40398373	95523274	86014985	121	1294											
ERAP2	64167	BI	GRCh38	chr5	96883830	96883830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagccaacccaggcacGcatggctttcccttgctttg	9	13	0	1	rs73150323	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.614G>A	p.Arg205His	p.R205H	ENST00000437043	3/19	54	36	18	61			ERAP2,missense_variant,p.R205H,ENST00000437043,NM_001130140.1&NM_022350.3,c.614G>A,MODERATE,YES,deleterious(0),probably_damaging(0.984),1;ERAP2,missense_variant,p.R205H,ENST00000379904,,c.614G>A,MODERATE,,deleterious(0),probably_damaging(0.972),1;ERAP2,missense_variant,p.R205H,ENST00000510373,,c.614G>A,MODERATE,,deleterious(0),probably_damaging(0.984),1;ERAP2,missense_variant,p.R205H,ENST00000510309,,c.614G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;ERAP2,downstream_gene_variant,,ENST00000507346,,,MODIFIER,,,,1;CTD-2260A17.2,intron_variant,,ENST00000501338,,n.1689-10452C>T,MODIFIER,YES,,,-1;ERAP2,missense_variant,p.R205H,ENST00000513084,,c.614G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1	A	ENST00000437043	Transcript	missense_variant	missense_variant	1325/5705	614/2883	205/960	R/H	cGc/cAc	rs73150323	1		1	ERAP2	HGNC	HGNC:29499	protein_coding	YES	CCDS4086.1	ENSP00000400376	Q6P179		UPI0000036336	NM_001130140.1;NM_022350.3	deleterious(0)	probably_damaging(0.984)	3/19		Pfam_domain:PF01433;Prints_domain:PR00756;Superfamily_domains:SSF63737		0.0015	0		0	0	0	9e-04	0								MODERATE	1	SNV	1			1	7.413e-05	7.431e-05	0.0006727	8.685e-05	0	0	0	0	6.087e-05		panel_of_normals	GGCACGCATGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	3	1	80	96883830	96883830	G	A	1	0	0	0	0	1	0	0	0	5053	1087	38	2		2	ERAP2	5	96883830	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1360556	96883830	84654429	122	1295											
SLC27A6	28965	BI	GRCh38	chr5	129027312	129027312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcctttatttttgggacCgtactggagacactttcagg	9	8	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1435C>T	p.Arg479Cys	p.R479C	ENST00000262462	7/10	54	46	8	66			SLC27A6,missense_variant,p.R479C,ENST00000262462,,c.1435C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;SLC27A6,missense_variant,p.R479C,ENST00000395266,NM_001017372.1&NM_014031.3,c.1435C>T,MODERATE,,deleterious(0),probably_damaging(1),1;SLC27A6,missense_variant,p.R479C,ENST00000506176,,c.1435C>T,MODERATE,,deleterious(0),probably_damaging(1),1	T	ENST00000262462	Transcript	missense_variant	missense_variant	2445/3219	1435/1860	479/619	R/C	Cgt/Tgt		1		1	SLC27A6	HGNC	HGNC:11000	protein_coding	YES	CCDS4145.1	ENSP00000262462	Q9Y2P4		UPI0000038E83		deleterious(0)	probably_damaging(1)	7/10		Pfam_domain:PF00501;Superfamily_domains:SSF56801																	MODERATE	1	SNV	1			1											panel_of_normals	GGGACCGTACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	129027312	129027312	C	T	1	0	0	0	0	1	0	0	0	14800	652	23	2		2	SLC27A6	5	129027312	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32143482	129027312	52510947	123	1296											
SHROOM1	134549	BI	GRCh38	chr5	132822984	132822984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcccgccagcagggCgcaatagacgcgcagctcct	13	16	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2371G>A	p.Ala791Thr	p.A791T	ENST00000378679	10/10	21	13	8	32			SHROOM1,missense_variant,p.A791T,ENST00000378679,NM_001172700.1,c.2371G>A,MODERATE,YES,tolerated(0.5),benign(0.009),-1;SHROOM1,missense_variant,p.A791T,ENST00000617339,,c.2371G>A,MODERATE,,tolerated(0.5),benign(0.009),-1;SHROOM1,missense_variant,p.A786T,ENST00000319854,NM_133456.2,c.2356G>A,MODERATE,,tolerated(0.51),benign(0.036),-1;SHROOM1,missense_variant,p.A722T,ENST00000378676,,c.2164G>A,MODERATE,,tolerated(0.55),benign(0.049),-1;SHROOM1,downstream_gene_variant,,ENST00000440118,,,MODIFIER,,,,-1;AC004775.5,upstream_gene_variant,,ENST00000607389,,,MODIFIER,YES,,,-1;SHROOM1,downstream_gene_variant,,ENST00000488072,,,MODIFIER,,,,-1;SHROOM1,downstream_gene_variant,,ENST00000495680,,,MODIFIER,,,,-1;SHROOM1,downstream_gene_variant,,ENST00000606676,,,MODIFIER,,,,-1	T	ENST00000378679	Transcript	missense_variant	missense_variant	3176/4019	2371/2559	791/852	A/T	Gcc/Acc		1		-1	SHROOM1	HGNC	HGNC:24084	protein_coding	YES	CCDS54902.1	ENSP00000367950	Q2M3G4		UPI000036FD4D	NM_001172700.1	tolerated(0.5)	benign(0.009)	10/10		Pfam_domain:PF08687																	MODERATE	1	SNV	1			1											panel_of_normals	CAGGGCGCAAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	132822984	132822984	C	T	1	0	0	0	0	1	0	0	0	14556	768	27	2		2	SHROOM1	5	132822984	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3795672	132822984	48715275	124	1297											
PCDHB7	56129	BI	GRCh38	chr5	141174828	141174828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgctcctggtggacGgcttctcccagccctacctg	11	16	1	0	rs782528648		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1993G>A	p.Gly665Ser	p.G665S	ENST00000231137	1/1	153	120	33	233			PCDHB7,missense_variant,p.G665S,ENST00000231137,NM_018940.3,c.1993G>A,MODERATE,YES,deleterious_low_confidence(0.01),possibly_damaging(0.606),1;PCDHB8,upstream_gene_variant,,ENST00000239444,NM_019120.3,,MODIFIER,YES,,,1;CH17-140K24.2,intron_variant,,ENST00000624192,,n.73-37645C>T,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000625128,,,MODIFIER,,,,-1;AC005754.7,upstream_gene_variant,,ENST00000624802,,,MODIFIER,,,,-1;CH17-140K24.4,upstream_gene_variant,,ENST00000623995,,,MODIFIER,YES,,,1	A	ENST00000231137	Transcript	missense_variant	missense_variant	2210/3765	1993/2382	665/793	G/S	Ggc/Agc	rs782528648	1		1	PCDHB7	HGNC	HGNC:8692	protein_coding	YES	CCDS4249.1	ENSP00000231137	Q9Y5E2		UPI00001273E3	NM_018940.3	deleterious_low_confidence(0.01)	possibly_damaging(0.606)	1/1		PROSITE_profiles:PS50268;SMART_domains:SM00112																	MODERATE		SNV				1	8.253e-06	8.526e-06	0	0	0	0	0	0	6.078e-05		PASS	TGGACGGCTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1434239	True	Unknown	A	3	1	80	141174828	141174828	G	A	1	0	0	0	0	1	0	0	0	11634	1116	39	2		2	PCDHB7	5	141174828	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8351844	141174828	40363431	125	1298											
PCDHGA6	56109	BI	GRCh38	chr5	141375181	141375181	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcacctccaggaacagtaatCgccctttttcaagtgttcga	8	12	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1098C>T	p.=	p.I366I	ENST00000517434	1/4	63	59	4	62			PCDHGA6,synonymous_variant,p.I366I,ENST00000610583,NM_032086.1,c.1098C>T,LOW,,,,1;PCDHGA6,synonymous_variant,p.I366I,ENST00000517434,NM_018919.2,c.1098C>T,LOW,YES,,,1;PCDHGA4,intron_variant,,ENST00000571252,NM_018917.3,c.2514+17560C>T,MODIFIER,YES,,,1;PCDHGA3,intron_variant,,ENST00000253812,NM_018916.3,c.2424+28724C>T,MODIFIER,YES,,,1;PCDHGB3,intron_variant,,ENST00000576222,NM_018924.2,c.2415+2372C>T,MODIFIER,YES,,,1;PCDHGA2,intron_variant,,ENST00000394576,NM_018915.3,c.2424+33786C>T,MODIFIER,YES,,,1;PCDHGA1,intron_variant,,ENST00000517417,NM_018912.2,c.2421+42076C>T,MODIFIER,YES,,,1;PCDHGA5,intron_variant,,ENST00000518069,NM_018918.2,c.2421+8430C>T,MODIFIER,YES,,,1;PCDHGB2,intron_variant,,ENST00000522605,NM_018923.2,c.2421+12625C>T,MODIFIER,YES,,,1;PCDHGB1,intron_variant,,ENST00000523390,NM_018922.2,c.2409+22512C>T,MODIFIER,YES,,,1;PCDHGB3,downstream_gene_variant,,ENST00000618934,NM_032097.1,,MODIFIER,,,,1;PCDHGA3,intron_variant,,ENST00000612467,,c.*2003+28724C>T,MODIFIER,,,,1	T	ENST00000517434	Transcript	synonymous_variant	synonymous_variant	1268/4775	1098/2799	366/932	I	atC/atT		1		1	PCDHGA6	HGNC	HGNC:8704	protein_coding	YES	CCDS54926.1	ENSP00000429601	Q9Y5G7		UPI00000715C8	NM_018919.2			1/4		Pfam_domain:PF00028;PROSITE_profiles:PS50268;Superfamily_domains:SSF49313																	LOW	1	SNV	1			1											PASS	GTAATCGCCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	141375181	141375181	C	T	1	0	0	0	0	0	0	0	1	11645	874	31	2		2	PCDHGA6	5	141375181	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	200353	141375181	40163078	126	1299											
RBM22	55696	BI	GRCh38	chr5	150695650	150695650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcattgattccgtaataaCggtctttaatattctgatca	6	7	4	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.602G>A	p.Arg201His	p.R201H	ENST00000199814	7/11	120	75	45	142			RBM22,missense_variant,p.R201H,ENST00000199814,NM_018047.2,c.602G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;RBM22,missense_variant,p.R152H,ENST00000447771,,c.455G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;RBM22,downstream_gene_variant,,ENST00000521464,,,MODIFIER,,,,-1;RBM22,downstream_gene_variant,,ENST00000518917,,,MODIFIER,,,,-1;RBM22,non_coding_transcript_exon_variant,,ENST00000522469,,n.663G>A,MODIFIER,,,,-1;RBM22,upstream_gene_variant,,ENST00000520132,,,MODIFIER,,,,-1;RBM22,downstream_gene_variant,,ENST00000521248,,,MODIFIER,,,,-1;RBM22,downstream_gene_variant,,ENST00000521594,,,MODIFIER,,,,-1	T	ENST00000199814	Transcript	missense_variant	missense_variant	724/2342	602/1263	201/420	R/H	cGt/cAt		1		-1	RBM22	HGNC	HGNC:25503	protein_coding	YES	CCDS34278.1	ENSP00000199814	Q9NW64		UPI00000223D3	NM_018047.2	deleterious(0)	probably_damaging(0.999)	7/11																			MODERATE	1	SNV	1			1											PASS	AATAACGGTCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	150695650	150695650	C	T	1	0	0	0	0	1	0	0	0	13288	536	19	1		1	RBM22	5	150695650	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9320469	150695650	30842609	127	1300											
FAT2	2196	BI	GRCh38	chr5	151512321	151512321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcctcttcgttgaccaCgacagcatccaggcagcctt	9	14	1	2	rs756607776	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.11749G>A	p.Val3917Met	p.V3917M	ENST00000261800	20/23	36	32	4	58			FAT2,missense_variant,p.V3917M,ENST00000261800,NM_001447.2,c.11749G>A,MODERATE,YES,,benign(0.013),-1;FAT2,missense_variant,p.V690M,ENST00000520200,,c.2066G>A,MODERATE,,tolerated(0.17),benign(0.03),-1;CTC-251D13.1,non_coding_transcript_exon_variant,,ENST00000606930,,n.2869C>T,MODIFIER,YES,,,1	T	ENST00000261800	Transcript	missense_variant	missense_variant	11762/14534	11749/13050	3917/4349	V/M	Gtg/Atg	rs756607776	1		-1	FAT2	HGNC	HGNC:3596	protein_coding	YES	CCDS4317.1	ENSP00000261800	Q9NYQ8		UPI0000055B22	NM_001447.2		benign(0.013)	20/23		Pfam_domain:PF02210;Pfam_domain:PF00054;PROSITE_profiles:PS50025;SMART_domains:SM00282;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1	2.471e-05	2.474e-05	0	0.0001728	0	0	0	0	6.056e-05		PASS	GACCACGACAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3852889	True	Unknown	T	3	4	80	151512321	151512321	C	T	1	0	0	0	0	1	0	0	0	5550	536	19	1		1	FAT2	5	151512321	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	816671	151512321	30025938	128	1301											
LARP1	23367	BI	GRCh38	chr5	154793676	154793676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggcttcacgccccactcGcccaccggagcctagacaca	8	19	1	1	rs779864945	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.590G>A	p.Arg197His	p.R197H	ENST00000336314	5/19	96	49	47	145			LARP1,missense_variant,p.R197H,ENST00000336314,NM_015315.4,c.590G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),1;LARP1,missense_variant,p.R274H,ENST00000518297,,c.821G>A,MODERATE,,,,1;LARP1,missense_variant,p.R69H,ENST00000524248,,c.206G>A,MODERATE,,,,1;LARP1,missense_variant,p.R49H,ENST00000523163,,c.146G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.885),1;LARP1,missense_variant,p.R69H,ENST00000519931,,c.206G>A,MODERATE,,,,1;LARP1,missense_variant,p.R36H,ENST00000518194,,c.105G>A,MODERATE,,tolerated(0.07),probably_damaging(0.989),1;LARP1,upstream_gene_variant,,ENST00000518742,,,MODIFIER,,,,1;LARP1,downstream_gene_variant,,ENST00000517616,,,MODIFIER,,,,1;LARP1,3_prime_UTR_variant,,ENST00000521577,,c.*289G>A,MODIFIER,,,,1;LARP1,upstream_gene_variant,,ENST00000518595,,,MODIFIER,,,,1	A	ENST00000336314	Transcript	missense_variant	missense_variant	614/6595	590/3060	197/1019	R/H	cGc/cAc	rs779864945	1		1	LARP1	HGNC	HGNC:29531	protein_coding	YES	CCDS4328.1	ENSP00000336721	Q6PKG0		UPI00001DFE1B	NM_015315.4	deleterious(0.01)	probably_damaging(0.999)	5/19																			MODERATE	1	SNV	1			1	1.647e-05	1.648e-05	0	8.637e-05	0	0	1.499e-05	0	0		PASS	CACTCGCCCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	154793676	154793676	G	A	1	0	0	0	0	1	0	0	0	8539	1087	38	2		2	LARP1	5	154793676	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3281355	154793676	26744583	129	1302											
KIF4B	285643	BI	GRCh38	chr5	155015814	155015814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	7	1	2	rs199820075	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1955G>A	p.Arg652His	p.R652H	ENST00000435029	1/1	109	102	7	119			KIF4B,missense_variant,p.R652H,ENST00000435029,NM_001099293.1,c.1955G>A,MODERATE,YES,tolerated(0.06),benign(0.035),1	A	ENST00000435029	Transcript	missense_variant	missense_variant	2060/4378	1955/3705	652/1234	R/H	cGt/cAt	rs199820075	1		1	KIF4B	HGNC	HGNC:6322	protein_coding	YES	CCDS47324.1	ENSP00000387875	Q2VIQ3		UPI000013D5DB	NM_001099293.1	tolerated(0.06)	benign(0.035)	1/1				0	0		0.001	0	0										MODERATE	1	SNV				1	7.413e-05	7.415e-05	0	0	0	0	0.0001199	0	6.056e-05		panel_of_normals	AATGCGTCAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM590778;COSM590779	True	Unknown	A	3	1	80	155015814	155015814	G	A	1	0	0	0	0	1	0	0	0	8169	1145	40	1		1	KIF4B	5	155015814	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	222138	155015814	26522445	130	1303											
FGFR4	2264	BI	GRCh38	chr5	177093430	177093430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggagtcaggctcttccGgcaagtcaagctcatccctg	10	15	4	0	rs55879131	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1276G>A	p.Gly426Ser	p.G426S	ENST00000292408	10/18	67	51	16	92			FGFR4,missense_variant,p.G426S,ENST00000292408,NM_002011.3&NM_213647.1,c.1276G>A,MODERATE,YES,tolerated(0.66),benign(0.067),1;FGFR4,missense_variant,p.G426S,ENST00000502906,,c.1276G>A,MODERATE,,tolerated(0.66),benign(0.067),1;FGFR4,missense_variant,p.G386S,ENST00000393637,NM_022963.2,c.1156G>A,MODERATE,,tolerated(0.43),benign(0.064),1;FGFR4,missense_variant,p.G58S,ENST00000511076,,c.170G>A,MODERATE,,tolerated(0.46),benign(0.208),1;FGFR4,synonymous_variant,p.P374P,ENST00000393648,NM_001291980.1,c.1122G>A,LOW,,,,1;FGFR4,downstream_gene_variant,,ENST00000503708,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000510911,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000513166,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000514472,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000507708,,,MODIFIER,,,,1;FGFR4,non_coding_transcript_exon_variant,,ENST00000508139,,n.654G>A,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000509511,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000430285,,,MODIFIER,,,,1;FGFR4,downstream_gene_variant,,ENST00000426612,,,MODIFIER,,,,1;FGFR4,upstream_gene_variant,,ENST00000483872,,,MODIFIER,,,,1;FGFR4,upstream_gene_variant,,ENST00000513423,,,MODIFIER,,,,1	A	ENST00000292408	Transcript	missense_variant	missense_variant	1521/3122	1276/2409	426/802	G/S	Ggc/Agc	rs55879131	1		1	FGFR4	HGNC	HGNC:3691	protein_coding	YES	CCDS4410.1	ENSP00000292408	P22455		UPI000012A72D	NM_002011.3;NM_213647.1	tolerated(0.66)	benign(0.067)	10/18		Low_complexity_(Seg):Seg;PIRSF_domain:PIRSF000628		0	0		0	0.001	0	0	1e-04								MODERATE	1	SNV	1			1	5.766e-05	5.789e-05	0	8.643e-05	0	0	7.538e-05	0	6.056e-05		PASS	CTTCCGGCAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	177093430	177093430	G	A	1	0	0	0	0	1	0	0	0	5732	1116	39	2		2	FGFR4	5	177093430	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22077616	177093430	4444829	131	1304											
NSD1	64324	BI	GRCh38	chr5	177210573	177210573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagcctggaaccgagaCgtctcaggttaatctctctg	11	11	3	2	rs774810620		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2174C>T	p.Thr725Met	p.T725M	ENST00000439151	5/23	45	22	23	56			NSD1,missense_variant,p.T725M,ENST00000439151,NM_022455.4,c.2174C>T,MODERATE,YES,tolerated_low_confidence(0.28),benign(0.008),1;NSD1,missense_variant,p.T456M,ENST00000354179,NM_172349.2,c.1367C>T,MODERATE,,tolerated_low_confidence(0.28),benign(0.018),1;NSD1,missense_variant,p.T456M,ENST00000347982,,c.1367C>T,MODERATE,,tolerated_low_confidence(0.28),benign(0.018),1;NSD1,downstream_gene_variant,,ENST00000508896,,,MODIFIER,,,,1;NSD1,upstream_gene_variant,,ENST00000375350,,,MODIFIER,,,,1	T	ENST00000439151	Transcript	missense_variant	missense_variant	2219/12892	2174/8091	725/2696	T/M	aCg/aTg	rs774810620	1		1	NSD1	HGNC	HGNC:14234	protein_coding	YES	CCDS4412.1	ENSP00000395929	Q96L73		UPI000006F9C6	NM_022455.4	tolerated_low_confidence(0.28)	benign(0.008)	5/23																			MODERATE	1	SNV	1			1	8.236e-06	8.241e-06	9.641e-05	0	0	0	0	0	0		PASS	CGAGACGTCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	177210573	177210573	C	T	1	0	0	0	0	1	0	0	0	10728	536	19	1		1	NSD1	5	177210573	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	117143	177210573	4327686	132	1305											
ELOVL2	54898	BI	GRCh38	chr6	10989828	10989828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgcgtgatggtgagcaCgaactgcacctggggacggc	18	9	0	2	rs202019761	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.640G>A	p.Val214Met	p.V214M	ENST00000354666	7/8	34	26	8	52			ELOVL2,missense_variant,p.V214M,ENST00000354666,NM_017770.3,c.640G>A,MODERATE,YES,tolerated(0.16),possibly_damaging(0.598),-1	T	ENST00000354666	Transcript	missense_variant	missense_variant	724/3997	640/891	214/296	V/M	Gtg/Atg	rs202019761	1		-1	ELOVL2	HGNC	HGNC:14416	protein_coding	YES	CCDS4518.1	ENSP00000346693	Q9NXB9	A0A024QZV3	UPI0000051C66	NM_017770.3	tolerated(0.16)	possibly_damaging(0.598)	7/8		Transmembrane_helices:Tmhmm;Pfam_domain:PF01151																	MODERATE	1	SNV	1			1	4.942e-05	4.951e-05	0.0001929	0	0.0003473	0	0	0	6.06e-05		PASS	GAGCACGAACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1439750	True	Unknown	T	3	4	80	10989828	10989828	C	T	1	0	0	0	0	1	0	0	0	4909	536	19	1		1	ELOVL2	6	10989828	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		10989828	159816151	133	1306											
EDN1	1906	BI	GRCh38	chr6	12292365	12292365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttaggcgctgagctcagcgCggtgggtgagaacggcgggg	20	9	1	2	rs202087445	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.89C>T	p.Ala30Val	p.A30V	ENST00000379375	2/5	133	127	6	129			EDN1,missense_variant,p.A30V,ENST00000379375,NM_001168319.1&NM_001955.4,c.89C>T,MODERATE,YES,tolerated(0.18),benign(0.022),1	T	ENST00000379375	Transcript	missense_variant	missense_variant	356/2033	89/639	30/212	A/V	gCg/gTg	rs202087445	1		1	EDN1	HGNC	HGNC:3176	protein_coding	YES	CCDS4522.1	ENSP00000368683	P05305	Q6FH53	UPI000012A217	NM_001168319.1;NM_001955.4	tolerated(0.18)	benign(0.022)	2/5																			MODERATE	1	SNV	1			1											panel_of_normals	CAGCGCGGTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	12292365	12292365	C	T	1	0	0	0	0	1	0	0	0	4744	768	27	2		2	EDN1	6	12292365	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1302537	12292365	158513614	134	1307											
TCF19	6941	BI	GRCh38	chr6	31162491	31162491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaaatcgacgtggccGtcctcggaagtacccagtga	11	12	1	2	rs142309377	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.812G>A	p.Arg271His	p.R271H	ENST00000376255	4/4	53	48	5	66			TCF19,missense_variant,p.R271H,ENST00000376257,NM_007109.2,c.812G>A,MODERATE,YES,tolerated(0.11),benign(0),1;TCF19,missense_variant,p.R271H,ENST00000376255,NM_001077511.1,c.812G>A,MODERATE,,tolerated(0.11),benign(0),1;TCF19,intron_variant,,ENST00000542218,,c.557+486G>A,MODIFIER,,,,1;CCHCR1,upstream_gene_variant,,ENST00000396268,NM_001105564.1,,MODIFIER,YES,,,-1;CCHCR1,upstream_gene_variant,,ENST00000376266,NM_019052.3,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000451521,NM_001105563.1,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000396263,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000513407,NM_001285986.1,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000471529,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000620031,NM_001285987.1&NM_203289.5&NM_001173531.2,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000259915,NM_002701.5,,MODIFIER,YES,,,-1;POU5F1,downstream_gene_variant,,ENST00000606567,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000512818,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000619340,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000441888,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000506831,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000426967,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000448162,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000455279,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000448141,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000502557,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000507829,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000507751,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000503420,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000508683,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000503934,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000507226,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000513222,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000507892,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000428174,,,MODIFIER,,,,-1;TCF19,non_coding_transcript_exon_variant,,ENST00000496421,,n.364G>A,MODIFIER,,,,1;CCHCR1,upstream_gene_variant,,ENST00000480060,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000509552,,,MODIFIER,,,,-1;POU5F1,downstream_gene_variant,,ENST00000461401,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000475684,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000488920,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000508852,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000507459,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000512418,,,MODIFIER,,,,-1;CCHCR1,upstream_gene_variant,,ENST00000505392,,,MODIFIER,,,,-1	A	ENST00000376255	Transcript	missense_variant	missense_variant	1315/3039	812/1038	271/345	R/H	cGt/cAt	rs142309377	1		1	TCF19	HGNC	HGNC:11629	protein_coding		CCDS43446.1	ENSP00000365431	Q9Y242		UPI0000071646	NM_001077511.1	tolerated(0.11)	benign(0)	4/4		PROSITE_profiles:PS50099;Superfamily_domains:SSF57903	0.0012	0	0		0.005	0	0.001										MODERATE		SNV	1			1	0.0004194	0.0004363	0	0	0.00436	0	9.61e-05	0	0.000429		panel_of_normals	TGGCCGTCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	3	1	80	31162491	31162491	G	A	1	0	0	0	0	1	0	0	0	16096	1145	40	1		1	TCF19	6	31162491	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	18870126	31162491	139643488	135	1308											
NCR3	259197	BI	GRCh38	chr6	31589875	31589875	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctggcgtcatggcctcGcacgtcccggatgtgcagct	14	13	1	0	rs748321504		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.295C>T	p.Arg99Ter	p.R99*	ENST00000340027	2/4	80	44	36	97			NCR3,stop_gained,p.R99*,ENST00000376073,NM_001145466.1,c.295C>T,HIGH,,,,-1;NCR3,stop_gained,p.R99*,ENST00000340027,NM_147130.2,c.295C>T,HIGH,YES,,,-1;NCR3,stop_gained,p.R99*,ENST00000376072,NM_001145467.1,c.295C>T,HIGH,,,,-1;NCR3,stop_gained,p.R74*,ENST00000376071,,c.220C>T,HIGH,,,,-1;LST1,downstream_gene_variant,,ENST00000438075,NM_205839.2,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000418507,NM_205838.2,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376090,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376089,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376093,NM_007161.3,,MODIFIER,YES,,,1;LST1,downstream_gene_variant,,ENST00000339530,NM_205837.2,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376099,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000303757,NM_205840.2,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376096,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376086,NM_001166538.1,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000211921,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000396101,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376110,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000396112,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000376092,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000464044,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000490742,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000433492,,,MODIFIER,,,,1;NCR3,non_coding_transcript_exon_variant,,ENST00000491161,,n.355C>T,MODIFIER,,,,-1;NCR3,non_coding_transcript_exon_variant,,ENST00000495600,,n.47C>T,MODIFIER,,,,-1;LST1,downstream_gene_variant,,ENST00000419073,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000464526,,,MODIFIER,,,,1;LST1,downstream_gene_variant,,ENST00000460834,,,MODIFIER,,,,1	A	ENST00000340027	Transcript	stop_gained	stop_gained	559/1042	295/606	99/201	R/*	Cga/Tga	rs748321504	1		-1	NCR3	HGNC	HGNC:19077	protein_coding	YES	CCDS34397.1	ENSP00000342156	O14931		UPI0000073DEE	NM_147130.2			2/4		Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00409;Superfamily_domains:SSF48726																	HIGH	1	SNV	1			1	8.431e-06	8.604e-06	0	0	0	0	0	0	6.149e-05		PASS	GCCTCGCACGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4706018;COSM4706019;COSM4706020	True	Unknown	A	4	1	80	31589875	31589875	G	A	1	0	0	0	0	0	1	0	0	10258	1095	38	2		2	NCR3	6	31589875	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	427384	31589875	139216104	136	1309											
PRRC2A	7916	BI	GRCh38	chr6	31625594	31625594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagttccctccctaccgcGgaatgatgccgcctttcgtg	9	17	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.742G>A	p.Gly248Arg	p.G248R	ENST00000376007	7/31	32	16	16	54			PRRC2A,missense_variant,p.G248R,ENST00000376033,NM_004638.3,c.742G>A,MODERATE,YES,,unknown(0),1;PRRC2A,missense_variant,p.G248R,ENST00000376007,NM_080686.2,c.742G>A,MODERATE,,,unknown(0),1;SNORA38,downstream_gene_variant,,ENST00000363946,,,MODIFIER,YES,,,1;PRRC2A,non_coding_transcript_exon_variant,,ENST00000469577,,n.587G>A,MODIFIER,,,,1;PRRC2A,upstream_gene_variant,,ENST00000483470,,,MODIFIER,,,,1;PRRC2A,upstream_gene_variant,,ENST00000464890,,,MODIFIER,,,,1;PRRC2A,downstream_gene_variant,,ENST00000464079,,,MODIFIER,,,,1	A	ENST00000376007	Transcript	missense_variant	missense_variant	944/6861	742/6474	248/2157	G/R	Gga/Aga		1		1	PRRC2A	HGNC	HGNC:13918	protein_coding		CCDS4708.1	ENSP00000365175	P48634			NM_080686.2		unknown(0)	7/31		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099																	MODERATE		SNV	1			1											PASS	ACCGCGGAATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	31625594	31625594	G	A	1	0	0	0	0	1	0	0	0	12748	1117	39	2		2	PRRC2A	6	31625594	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	35719	31625594	139180385	137	1310											
LY6G6C	80740	BI	GRCh38	chr6	31720137	31720137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgctgtcctggctccaggCggcaggactgccggtccaca	13	14	0	0	rs761749993	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.119G>A	p.Arg40His	p.R40H	ENST00000375819	2/3	53	38	15	80			LY6G6C,missense_variant,p.R40H,ENST00000375819,NM_025261.2,c.119G>A,MODERATE,YES,tolerated(0.08),benign(0.011),-1;LY6G6C,5_prime_UTR_variant,,ENST00000495859,,c.-50G>A,MODIFIER,,,,-1;C6orf25,upstream_gene_variant,,ENST00000375809,NM_025260.3,,MODIFIER,,,,1;XXbac-BPG32J3.19,downstream_gene_variant,,ENST00000503322,,,MODIFIER,YES,,,1;C6orf25,upstream_gene_variant,,ENST00000375810,NM_138277.2,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000375806,NM_138272.2,,MODIFIER,YES,,,1;C6orf25,upstream_gene_variant,,ENST00000480039,,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000375805,NM_138273.2,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000375804,NM_138274.2,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000375814,NM_138275.2,,MODIFIER,,,,1;LY6G6D,downstream_gene_variant,,ENST00000375824,,,MODIFIER,,,,1;LY6G6D,downstream_gene_variant,,ENST00000375825,NM_021246.2,,MODIFIER,YES,,,1;C6orf25,intron_variant,,ENST00000460663,,n.90+1454C>T,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000471545,,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000485548,,,MODIFIER,,,,1;C6orf25,upstream_gene_variant,,ENST00000466312,,,MODIFIER,,,,1;LY6G6D,downstream_gene_variant,,ENST00000479334,,,MODIFIER,,,,1	T	ENST00000375819	Transcript	missense_variant	missense_variant	285/992	119/378	40/125	R/H	cGc/cAc	rs761749993	1		-1	LY6G6C	HGNC	HGNC:13936	protein_coding	YES	CCDS4714.1	ENSP00000364978	O95867		UPI0000048F36	NM_025261.2	tolerated(0.08)	benign(0.011)	2/3		Superfamily_domains:SSF57302																	MODERATE	1	SNV	1			1	3.372e-05	3.44e-05	0	0	0	0.0001519	4.731e-05	0	0		PASS	CCAGGCGGCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	31720137	31720137	C	T	1	0	0	0	0	1	0	0	0	9004	768	27	2		2	LY6G6C	6	31720137	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	94543	31720137	139085842	138	1311											
TNXB	7148	BI	GRCh38	chr6	32049283	32049283	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacccgtgatgcccacGgtggacactgggcccacgcg	12	17	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe				ENST00000451343		20	15	5	26			TNXB,synonymous_variant,p.T3248T,ENST00000375244,NM_019105.6,c.9744C>T,LOW,,,,-1;TNXB,synonymous_variant,p.T966T,ENST00000611016,,c.2898C>T,LOW,,,,-1;TNXB,upstream_gene_variant,,ENST00000451343,NM_032470.3,,MODIFIER,YES,,,-1;TNXB,upstream_gene_variant,,ENST00000490077,,,MODIFIER,,,,-1	A	ENST00000451343	Transcript	upstream_gene_variant	upstream_gene_variant	-/3125	-/2022	-/673				1	3155	-1	TNXB	HGNC	HGNC:11976	protein_coding	YES	CCDS4736.1	ENSP00000407685	P22105		UPI0000000E8E	NM_032470.3																						MODIFIER	1	SNV	1			1											panel_of_normals	CCCACGGTGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM1443480;COSM333044	True	Unknown	A	1	1	80	32049283	32049283	G	A	0	1	0	0	0	0	0	0	0	16820	1103	39	2		2	TNXB	6	32049283	5'Flank	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	329146	32049283	138756696	139	1312											
ATF6B	1388	BI	GRCh38	chr6	32116708	32116708	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaggagaaactcacccttCggaaagagacaacataaaat	9	9	1	2	rs148987710	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1793G>A	p.Arg598Gln	p.R598Q	ENST00000375203	16/18	32	15	17	37			ATF6B,missense_variant,p.R595Q,ENST00000375201,NM_001136153.1,c.1784G>A,MODERATE,,deleterious(0.04),probably_damaging(0.999),-1;ATF6B,missense_variant,p.R598Q,ENST00000375203,NM_004381.4,c.1793G>A,MODERATE,YES,deleterious(0.03),probably_damaging(0.998),-1;ATF6B,incomplete_terminal_codon_variant,p.X143X,ENST00000453203,,c.425G>A,LOW,,,,-1;TNXB,upstream_gene_variant,,ENST00000442721,,,MODIFIER,,,,-1;ATF6B,non_coding_transcript_exon_variant,,ENST00000494022,,n.285G>A,MODIFIER,,,,-1;ATF6B,downstream_gene_variant,,ENST00000495579,,,MODIFIER,,,,-1;ATF6B,downstream_gene_variant,,ENST00000485314,,,MODIFIER,,,,-1;ATF6B,downstream_gene_variant,,ENST00000492342,,,MODIFIER,,,,-1;ATF6B,downstream_gene_variant,,ENST00000475705,,,MODIFIER,,,,-1	T	ENST00000375203	Transcript	missense_variant	missense_variant	1826/2620	1793/2112	598/703	R/Q	cGa/cAa	rs148987710	1		-1	ATF6B	HGNC	HGNC:2349	protein_coding	YES	CCDS4737.1	ENSP00000364349	Q99941			NM_004381.4	deleterious(0.03)	probably_damaging(0.998)	16/18										5e-04	2e-04								MODERATE	1	SNV	1			1	0.0001647	0.0001648	0.0003848	0	0	0	0.0002399	0	0		panel_of_normals	CCCTTCGGAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	32116708	32116708	C	T	1	0	0	0	0	1	0	0	0	1234	898	31	2		2	ATF6B	6	32116708	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	67425	32116708	138689271	140	1313											
RPL10A	4736	BI	GRCh38	chr6	35470194	35470194	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccaagaagtatgatgCgtttttggcctcagagtctc	10	9	3	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.326C>T	p.Ala109Val	p.A109V	ENST00000322203	5/6	46	42	4	59			RPL10A,missense_variant,p.A109V,ENST00000322203,NM_007104.4,c.326C>T,MODERATE,YES,tolerated(0.08),benign(0.14),1;TEAD3,downstream_gene_variant,,ENST00000338863,NM_003214.3,,MODIFIER,YES,,,-1;TEAD3,downstream_gene_variant,,ENST00000402886,,,MODIFIER,,,,-1;FANCE,downstream_gene_variant,,ENST00000229769,NM_021922.2,,MODIFIER,YES,,,1;MIR7111,upstream_gene_variant,,ENST00000619751,,,MODIFIER,YES,,,1;RPL10A,non_coding_transcript_exon_variant,,ENST00000467020,,n.706C>T,MODIFIER,,,,1;RPL10A,non_coding_transcript_exon_variant,,ENST00000464112,,n.700C>T,MODIFIER,,,,1;RPL10A,non_coding_transcript_exon_variant,,ENST00000478340,,n.599C>T,MODIFIER,,,,1;RPL10A,non_coding_transcript_exon_variant,,ENST00000490335,,n.414C>T,MODIFIER,,,,1	T	ENST00000322203	Transcript	missense_variant	missense_variant	353/716	326/654	109/217	A/V	gCg/gTg		1		1	RPL10A	HGNC	HGNC:10299	protein_coding	YES	CCDS4806.1	ENSP00000363018	P62906		UPI0000025FC8	NM_007104.4	tolerated(0.08)	benign(0.14)	5/6		Pfam_domain:PF00687;Superfamily_domains:SSF56808;PIRSF_domain:PIRSF002155																	MODERATE	1	SNV	1			1											PASS	TGATGCGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	35470194	35470194	C	T	1	0	0	0	0	1	0	0	0	13807	768	27	2		2	RPL10A	6	35470194	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3353486	35470194	135335785	141	1314											
CLPSL2	389383	BI	GRCh38	chr6	35777538	35777538	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggactccggtggagcctTctgtgcccccagggccagaa	13	14	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.164T>G	p.Phe55Cys	p.F55C	ENST00000403376	2/3	29	21	8	47			CLPSL2,missense_variant,p.F55C,ENST00000360454,NM_001286550.1,c.164T>G,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.975),1;CLPSL2,missense_variant,p.F55C,ENST00000403376,NM_207409.3,c.164T>G,MODERATE,,deleterious(0),probably_damaging(0.938),1;CLPSL1,upstream_gene_variant,,ENST00000373861,NM_001010886.3,,MODIFIER,YES,,,1;CLPSL2,non_coding_transcript_exon_variant,,ENST00000481904,,n.291T>G,MODIFIER,,,,1;CLPSL2,intron_variant,,ENST00000467122,,n.115+734T>G,MODIFIER,,,,1	G	ENST00000403376	Transcript	missense_variant	missense_variant	164/405	164/303	55/100	F/C	tTc/tGc		1		1	CLPSL2	HGNC	HGNC:21250	protein_coding		CCDS4810.2	ENSP00000385898	Q6UWE3		UPI00015A355C	NM_207409.3	deleterious(0)	probably_damaging(0.938)	2/3																			MODERATE		SNV	2			1											PASS	AGCCTTCTGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	G	3	3	80	35777538	35777538	T	G	1	0	0	0	0	1	0	0	0	3325	1783	62	5		5	CLPSL2	6	35777538	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	307344	35777538	135028441	142	1315											
GLP1R	2740	BI	GRCh38	chr6	39085922	39085922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtccagctggaatttcGgaagagctgggagcgctggc	17	8	0	1	rs368940624	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1241G>A	p.Arg414Gln	p.R414Q	ENST00000373256	13/13	185	94	91	209			GLP1R,missense_variant,p.R414Q,ENST00000373256,NM_002062.3,c.1241G>A,MODERATE,YES,tolerated(0.43),benign(0.019),1	A	ENST00000373256	Transcript	missense_variant	missense_variant	1284/3105	1241/1392	414/463	R/Q	cGg/cAg	rs368940624	1		1	GLP1R	HGNC	HGNC:4324	protein_coding	YES	CCDS4839.1	ENSP00000362353	P43220		UPI0000061F20	NM_002062.3	tolerated(0.43)	benign(0.019)	13/13		Superfamily_domains:SSF81321								0	1e-04								MODERATE	1	SNV	1			1	1.647e-05	1.648e-05	0	0	0	0	3e-05	0	0		panel_of_normals	ATTTCGGAAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM5748897	True	Unknown	A	3	1	80	39085922	39085922	G	A	1	0	0	0	0	1	0	0	0	6331	1116	39	2		2	GLP1R	6	39085922	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3308384	39085922	131720057	143	1316											
UNC5CL	222643	BI	GRCh38	chr6	41033109	41033109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcagccatttgcgggcttCgcgccccacaggtgcctcca	11	17	0	0	rs773255844	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.724G>A	p.Glu242Lys	p.E242K	ENST00000244565	4/9	15	7	8	15			UNC5CL,missense_variant,p.E242K,ENST00000244565,NM_173561.2,c.724G>A,MODERATE,YES,tolerated(0.85),benign(0.024),-1;UNC5CL,missense_variant,p.E242K,ENST00000373164,,c.724G>A,MODERATE,,tolerated(0.85),benign(0.024),-1;UNC5CL,upstream_gene_variant,,ENST00000470102,,,MODIFIER,,,,-1;OARD1,downstream_gene_variant,,ENST00000482853,,,MODIFIER,,,,-1	T	ENST00000244565	Transcript	missense_variant	missense_variant	841/3136	724/1557	242/518	E/K	Gaa/Aaa	rs773255844	1		-1	UNC5CL	HGNC	HGNC:21203	protein_coding	YES	CCDS4847.1	ENSP00000244565	Q8IV45	H8YHX0	UPI00001609DB	NM_173561.2	tolerated(0.85)	benign(0.024)	4/9																			MODERATE	1	SNV	1			1	7.414e-05	8.795e-05	0.0001208	0.000411	0	0	3.482e-05	0	0.0001397		PASS	GGCTTCGCGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM3873935	True	Unknown	T	3	4	80	41033109	41033109	C	T	1	0	0	0	0	1	0	0	0	17518	893	31	2		2	UNC5CL	6	41033109	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1947187	41033109	129772870	144	1317											
UBR2	23304	BI	GRCh38	chr6	42658288	42658288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagttcacctaccagtcccGtggcagagacagaaggaacc	11	12	1	3	rs147976047	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3031G>A	p.Val1011Met	p.V1011M	ENST00000372899	28/47	51	30	21	59			UBR2,missense_variant,p.V1011M,ENST00000372899,NM_015255.2,c.3031G>A,MODERATE,YES,tolerated(0.17),benign(0.001),1;UBR2,missense_variant,p.V1011M,ENST00000372901,,c.3031G>A,MODERATE,,tolerated(0.17),benign(0.032),1	A	ENST00000372899	Transcript	missense_variant	missense_variant	3289/7857	3031/5268	1011/1755	V/M	Gtg/Atg	rs147976047	1		1	UBR2	HGNC	HGNC:21289	protein_coding	YES	CCDS4870.1	ENSP00000361990	Q8IWV8		UPI0000074466	NM_015255.2	tolerated(0.17)	benign(0.001)	28/47			4e-04	0	0		0	0.002	0	2e-04	0								MODERATE	1	SNV	1			1	0.0004036	0.0004061	0.0001986	8.645e-05	0.0003468	0.004082	0.0001959	0.003319	0		PASS	GTCCCGTGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	42658288	42658288	G	A	1	0	0	0	0	1	0	0	0	17426	1145	40	1		1	UBR2	6	42658288	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1625179	42658288	128147691	145	1318											
CUL7	9820	BI	GRCh38	chr6	43043102	43043102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacggcccgccaacagCgcgtcaggtttctcatgatg	10	16	2	1	rs757432567		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3434G>A	p.Arg1145His	p.R1145H	ENST00000265348	18/26	61	47	14	56			CUL7,missense_variant,p.R1229H,ENST00000535468,NM_001168370.1,c.3686G>A,MODERATE,YES,tolerated(0.07),benign(0.008),-1;CUL7,missense_variant,p.R1145H,ENST00000265348,NM_014780.4,c.3434G>A,MODERATE,,tolerated(0.07),benign(0.051),-1;CUL7,downstream_gene_variant,,ENST00000478630,,,MODIFIER,,,,-1;KLC4,5_prime_UTR_variant,,ENST00000467906,,c.-959C>T,MODIFIER,,,,1	T	ENST00000265348	Transcript	missense_variant	missense_variant	3520/5254	3434/5097	1145/1698	R/H	cGc/cAc	rs757432567	1		-1	CUL7	HGNC	HGNC:21024	protein_coding		CCDS4881.1	ENSP00000265348	Q14999		UPI000013D603	NM_014780.4	tolerated(0.07)	benign(0.051)	18/26																			MODERATE		SNV	1			1	8.236e-06	8.266e-06	0	0	0	0	1.503e-05	0	0		PASS	AACAGCGCGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	43043102	43043102	C	T	1	0	0	0	0	1	0	0	0	3870	768	27	2		2	CUL7	6	43043102	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	384814	43043102	127762877	146	1319											
TTBK1	84630	BI	GRCh38	chr6	43283941	43283941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggaggacacgggctcGgagccctcaggctcactgtc	14	13	3	1	rs376415608	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3201G>A	p.=	p.S1067S	ENST00000259750	14/15	20	12	8	32			TTBK1,synonymous_variant,p.S1067S,ENST00000259750,NM_032538.1,c.3201G>A,LOW,YES,,,1	A	ENST00000259750	Transcript	synonymous_variant	synonymous_variant	3284/6932	3201/3966	1067/1321	S	tcG/tcA	rs376415608	1		1	TTBK1	HGNC	HGNC:19140	protein_coding	YES	CCDS34455.1	ENSP00000259750	Q5TCY1		UPI000041512B	NM_032538.1			14/15										9e-04	0								LOW	1	SNV	1			1	6.603e-05	6.181e-05	0.0005521	0	0	0	3.236e-05	0	0		PASS	GGCTCGGAGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	2	1	80	43283941	43283941	G	A	1	0	0	0	0	0	0	0	1	17186	1103	39	2		2	TTBK1	6	43283941	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	240839	43283941	127522038	147	1320											
PLA2G7	7941	BI	GRCh38	chr6	46710550	46710550	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttttatagcttaccttcaGttgttccatatcaaacttta	3	9	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.772C>G	p.Leu258Val	p.L258V	ENST00000274793	8/12	40	36	4	58			PLA2G7,missense_variant,p.L258V,ENST00000274793,NM_005084.3,c.772C>G,MODERATE,YES,deleterious(0.02),possibly_damaging(0.897),-1;PLA2G7,missense_variant,p.L258V,ENST00000537365,NM_001168357.1,c.772C>G,MODERATE,,deleterious(0.02),possibly_damaging(0.897),-1	C	ENST00000274793	Transcript	missense_variant	missense_variant	969/1882	772/1326	258/441	L/V	Ctg/Gtg		1		-1	PLA2G7	HGNC	HGNC:9040	protein_coding	YES	CCDS4917.1	ENSP00000274793	Q13093		UPI000002FED1	NM_005084.3	deleterious(0.02)	possibly_damaging(0.897)	8/12		Pfam_domain:PF03403;Superfamily_domains:SSF53474;PIRSF_domain:PIRSF018169																	MODERATE	1	SNV	1			1											PASS	CTTCAGTTGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	C	3	2	80	46710550	46710550	G	C	1	0	0	0	0	1	0	0	0	12105	1043	36	5		5	PLA2G7	6	46710550	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3426609	46710550	124095429	148	1321											
FUT9	10690	BI	GRCh38	chr6	96203487	96203487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcagttctgatccatcaccGagacatcagttgggatctga	10	10	4	3	rs765684352		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.332G>A	p.Arg111Gln	p.R111Q	ENST00000302103	3/3	39	28	11	59			FUT9,missense_variant,p.R111Q,ENST00000302103,NM_006581.3,c.332G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.994),1	A	ENST00000302103	Transcript	missense_variant	missense_variant	658/12783	332/1080	111/359	R/Q	cGa/cAa	rs765684352	1		1	FUT9	HGNC	HGNC:4020	protein_coding	YES	CCDS5033.1	ENSP00000302599	Q9Y231		UPI000013E792	NM_006581.3	deleterious(0.01)	probably_damaging(0.994)	3/3		Pfam_domain:PF00852																	MODERATE	1	SNV	1			1	8.238e-06	8.422e-06	0	0	0	0	1.517e-05	0	0		PASS	TCACCGAGACA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1082692	True	Unknown	A	3	1	80	96203487	96203487	G	A	1	0	0	0	0	1	0	0	0	5983	1058	37	2		2	FUT9	6	96203487	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	49492937	96203487	74602492	149	1322											
ASCC3	10973	BI	GRCh38	chr6	100627691	100627691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaactgggcgtactgatggtCggaagttaaacaagcccatc	12	9	0	1	rs142364575	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4541G>A	p.Arg1514Gln	p.R1514Q	ENST00000369162	29/42	31	20	11	39			ASCC3,missense_variant,p.R1514Q,ENST00000369162,NM_006828.3,c.4541G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.455),-1	T	ENST00000369162	Transcript	missense_variant	missense_variant	4886/8146	4541/6609	1514/2202	R/Q	cGa/cAa	rs142364575	1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3	deleterious(0.01)	possibly_damaging(0.455)	29/42		SMART_domains:SM00487;Superfamily_domains:SSF52540;Superfamily_domains:SSF52540	4e-04	8e-04	0		0.001	0	0	7e-04	0								MODERATE	1	SNV	5			1	0.00014	0.0001417	0.0009694	0	0.000821	0	0	0	0		PASS	ATGGTCGGAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM5979240	True	Unknown	T	3	4	80	100627691	100627691	C	T	1	0	0	0	0	1	0	0	0	1175	884	31	2		2	ASCC3	6	100627691	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4424204	100627691	70178288	150	1323											
ASCC3	10973	BI	GRCh38	chr6	100627948	100627948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgatgagataaaatttgttCgagatacaatgacctctaga	9	5	1	5	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4415G>A	p.Arg1472Gln	p.R1472Q	ENST00000369162	28/42	50	43	7	54			ASCC3,missense_variant,p.R1472Q,ENST00000369162,NM_006828.3,c.4415G>A,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1	T	ENST00000369162	Transcript	missense_variant	missense_variant	4760/8146	4415/6609	1472/2202	R/Q	cGa/cAa		1		-1	ASCC3	HGNC	HGNC:18697	protein_coding	YES	CCDS5046.1	ENSP00000358159	Q8N3C0		UPI000014145A	NM_006828.3	deleterious(0)	probably_damaging(0.997)	28/42		Pfam_domain:PF00270;PROSITE_profiles:PS51192;SMART_domains:SM00487;SMART_domains:SM00382;Superfamily_domains:SSF52540;Superfamily_domains:SSF52540																	MODERATE	1	SNV	5			1											PASS	TTGTTCGAGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	100627948	100627948	C	T	1	0	0	0	0	1	0	0	0	1175	884	31	2		2	ASCC3	6	100627948	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	257	100627948	70178031	151	1324											
BEND3	57673	BI	GRCh38	chr6	107069150	107069150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccctcaaactcctcccGgaacctctcggggttgattg	11	15	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2041C>T	p.Arg681Trp	p.R681W	ENST00000369042	4/4	40	32	8	42			BEND3,missense_variant,p.R681W,ENST00000429433,NM_001080450.2,c.2041C>T,MODERATE,YES,deleterious(0),probably_damaging(0.947),-1;BEND3,missense_variant,p.R681W,ENST00000369042,,c.2041C>T,MODERATE,,deleterious(0),probably_damaging(0.947),-1	A	ENST00000369042	Transcript	missense_variant	missense_variant	2232/6200	2041/2487	681/828	R/W	Cgg/Tgg		1		-1	BEND3	HGNC	HGNC:23040	protein_coding		CCDS34507.1	ENSP00000358038	Q5T5X7		UPI00001D80D7		deleterious(0)	probably_damaging(0.947)	4/4		Low_complexity_(Seg):Seg																	MODERATE		SNV	5			1											PASS	CTCCCGGAACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5935079	True	Unknown	A	3	1	80	107069150	107069150	G	A	1	0	0	0	0	1	0	0	0	1547	1115	39	2		2	BEND3	6	107069150	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6441202	107069150	63736829	152	1325											
FOXO3	2309	BI	GRCh38	chr6	108664358	108664358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaattcccgccggaacGtgatgcttcgcaatgatccg	10	14	0	3	rs535867091	by1000G;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1525G>A	p.Val509Met	p.V509M	ENST00000343882	3/4	24	15	9	57			FOXO3,missense_variant,p.V509M,ENST00000406360,NM_001455.3,c.1525G>A,MODERATE,YES,tolerated(0.14),benign(0.276),1;FOXO3,missense_variant,p.V509M,ENST00000343882,NM_201559.2,c.1525G>A,MODERATE,,tolerated(0.14),benign(0.276),1;FOXO3,missense_variant,p.V289M,ENST00000540898,,c.865G>A,MODERATE,,tolerated(0.28),benign(0.276),1	A	ENST00000343882	Transcript	missense_variant	missense_variant	1829/7308	1525/2022	509/673	V/M	Gtg/Atg	rs535867091	1		1	FOXO3	HGNC	HGNC:3821	protein_coding		CCDS5068.1	ENSP00000339527	O43524		UPI000012ADEA	NM_201559.2	tolerated(0.14)	benign(0.276)	3/4			0.0016	0.0061	0		0	0	0										MODERATE		SNV	1			1	5.769e-05	6.221e-05	0.0006978	0	0	0	0	0	6.292e-05		PASS	GGAACGTGATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	108664358	108664358	G	A	1	0	0	0	0	1	0	0	0	5888	1145	40	1		1	FOXO3	6	108664358	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1595208	108664358	62141621	153	1326											
MFSD4B	91749	BI	GRCh38	chr6	111262351	111262351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcatttttgtgggtcGtgccttgggatatttgagtg	13	5	2	1	rs200995803	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.122G>A	p.Arg41His	p.R41H	ENST00000368847	2/4	204	139	65	206			KIAA1919,missense_variant,p.R41H,ENST00000368847,NM_153369.2,c.122G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.88),1;RP11-428F8.2,upstream_gene_variant,,ENST00000425364,,,MODIFIER,YES,,,-1	A	ENST00000368847	Transcript	missense_variant	missense_variant	475/5958	122/1557	41/518	R/H	cGt/cAt	rs200995803	1		1	KIAA1919	HGNC	HGNC:21053	protein_coding	YES	CCDS5090.1	ENSP00000357840	Q5TF39		UPI000013EF89	NM_153369.2	deleterious(0)	possibly_damaging(0.88)	2/4		Transmembrane_helices:Tmhmm;Pfam_domain:PF07690;Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1	8.237e-06	8.237e-06	0	0	0	0	0	0	6.056e-05		PASS	GGGTCGTGCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	111262351	111262351	G	A	1	0	0	0	0	1	0	0	0	9491	1145	40	1		1	MFSD4B	6	111262351	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2597993	111262351	59543628	154	1327											
MAN1A1	4121	BI	GRCh38	chr6	119188411	119188411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaaacatcacctctacGgcttcccaggcccatttcct	4	15	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1713C>T	p.=	p.A571A	ENST00000368468	11/13	96	82	14	106			MAN1A1,synonymous_variant,p.A571A,ENST00000368468,NM_005907.3,c.1713C>T,LOW,YES,,,-1	A	ENST00000368468	Transcript	synonymous_variant	synonymous_variant	2155/5014	1713/1962	571/653	A	gcC/gcT		1		-1	MAN1A1	HGNC	HGNC:6821	protein_coding	YES	CCDS5122.1	ENSP00000357453	P33908		UPI000013D632	NM_005907.3			11/13		Pfam_domain:PF01532;Superfamily_domains:SSF48225																	LOW	1	SNV	2			1											panel_of_normals	TCTACGGCTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	2	1	80	119188411	119188411	G	A	1	0	0	0	0	0	0	0	1	9131	1103	39	2		2	MAN1A1	6	119188411	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7926060	119188411	51617568	155	1328											
GJA1	2697	BI	GRCh38	chr6	121447580	121447580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcgggttaagggaaagagcGacccttaccatgcgaccagt	12	10	0	1	rs367628979		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.733G>A	p.Asp245Asn	p.D245N	ENST00000282561	2/2	37	31	6	63			GJA1,missense_variant,p.D245N,ENST00000282561,NM_000165.3,c.733G>A,MODERATE,YES,tolerated(0.63),benign(0.002),1	A	ENST00000282561	Transcript	missense_variant	missense_variant	890/3037	733/1149	245/382	D/N	Gac/Aac	rs367628979	1		1	GJA1	HGNC	HGNC:4274	protein_coding	YES	CCDS5123.1	ENSP00000282561	P17302		UPI000013DCEC	NM_000165.3	tolerated(0.63)	benign(0.002)	2/2										0	1e-04								MODERATE	1	SNV	1			1											PASS	AGAGCGACCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	121447580	121447580	G	A	1	0	0	0	0	1	0	0	0	6280	1058	37	2		2	GJA1	6	121447580	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2259169	121447580	49358399	156	1329											
SLC18B1	116843	BI	GRCh38	chr6	132773014	132773014	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacaactgagaatttccGggaaagttggaattatactc	10	7	0	1	rs573567211	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1064C>T	p.Pro355Leu	p.P355L	ENST00000275227	10/14	36	29	7	53			SLC18B1,missense_variant,p.P355L,ENST00000275227,NM_052831.2,c.1064C>T,MODERATE,YES,tolerated(0.08),benign(0.236),-1;SLC18B1,downstream_gene_variant,,ENST00000367918,,,MODIFIER,,,,-1	A	ENST00000275227	Transcript	missense_variant	missense_variant	1161/2368	1064/1371	355/456	P/L	cCg/cTg	rs573567211	1		-1	SLC18B1	HGNC	HGNC:21573	protein_coding	YES	CCDS5163.1	ENSP00000275227	Q6NT16		UPI000013DA50	NM_052831.2	tolerated(0.08)	benign(0.236)	10/14		Pfam_domain:PF07690;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473	2e-04	8e-04	0		0	0	0										MODERATE	1	SNV	1			1	8.236e-06	8.297e-06	9.722e-05	0	0	0	0	0	0		PASS	TTTCCGGGAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	132773014	132773014	G	A	1	0	0	0	0	1	0	0	0	14693	1116	39	2		2	SLC18B1	6	132773014	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11325434	132773014	38032965	157	1330											
AHI1	54806	BI	GRCh38	chr6	135457660	135457660	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggataaaccgggctatctcGgcttgttatttcatgaacac	10	9	2	1	rs201391050	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.985C>T	p.Arg329Ter	p.R329*	ENST00000265602	9/29	97	52	45	88			AHI1,stop_gained,p.R329*,ENST00000367800,NM_001134830.1,c.985C>T,HIGH,YES,,,-1;AHI1,stop_gained,p.R329*,ENST00000457866,NM_017651.4,c.985C>T,HIGH,,,,-1;AHI1,stop_gained,p.R329*,ENST00000265602,NM_001134831.1,c.985C>T,HIGH,,,,-1;AHI1,stop_gained,p.R329*,ENST00000327035,NM_001134832.1,c.985C>T,HIGH,,,,-1;AHI1,stop_gained,p.R329*,ENST00000531788,,c.985C>T,HIGH,,,,-1	A	ENST00000265602	Transcript	stop_gained	stop_gained	1380/4335	985/3591	329/1196	R/*	Cga/Tga	rs201391050	1		-1	AHI1	HGNC	HGNC:21575	protein_coding		CCDS47483.1	ENSP00000265602	Q8N157		UPI00000701FB	NM_001134831.1			9/29												pathogenic							HIGH		SNV	1		1	1											panel_of_normals	ATCTCGGCTTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	4	1	80	135457660	135457660	G	A	1	0	0	0	0	0	1	0	0	490	1124	39	2		2	AHI1	6	135457660	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2684646	135457660	35348319	158	1331											
MAP3K5	4217	BI	GRCh38	chr6	136567725	136567725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagaactgagcgtgctcaCgcctgaggtagccacagcat	12	11	1	3	rs766760055	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3667G>A	p.Val1223Met	p.V1223M	ENST00000359015	26/30	33	29	4	40			MAP3K5,missense_variant,p.V1223M,ENST00000359015,NM_005923.3,c.3667G>A,MODERATE,YES,tolerated(0.26),possibly_damaging(0.802),-1	T	ENST00000359015	Transcript	missense_variant	missense_variant	4028/5197	3667/4125	1223/1374	V/M	Gtg/Atg	rs766760055	1		-1	MAP3K5	HGNC	HGNC:6857	protein_coding	YES	CCDS5179.1	ENSP00000351908	Q99683		UPI000012EAD5	NM_005923.3	tolerated(0.26)	possibly_damaging(0.802)	26/30		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	2.471e-05	2.479e-05	0	0	0.0001157	0	1.502e-05	0	6.06e-05		PASS	GCTCACGCCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3015423	True	Unknown	T	3	4	80	136567725	136567725	C	T	1	0	0	0	0	1	0	0	0	9176	536	19	1		1	MAP3K5	6	136567725	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1110065	136567725	34238254	159	1332											
UTRN	7402	BI	GRCh38	chr6	144493451	144493451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacaatgacctgggcGcacaggtgaggagagcagcc	13	10	1	3	rs771082025		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4588G>A	p.Ala1530Thr	p.A1530T	ENST00000367545	32/74	28	9	19	42			UTRN,missense_variant,p.A1530T,ENST00000367545,NM_007124.2,c.4588G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1	A	ENST00000367545	Transcript	missense_variant	missense_variant	4588/12339	4588/10302	1530/3433	A/T	Gca/Aca	rs771082025	1		1	UTRN	HGNC	HGNC:12635	protein_coding	YES	CCDS34547.1	ENSP00000356515	P46939		UPI00003673F1	NM_007124.2	deleterious(0)	probably_damaging(0.999)	32/74		SMART_domains:SM00150;Superfamily_domains:SSF46966;PIRSF_domain:PIRSF002341																	MODERATE	1	SNV	5			1	8.236e-06	8.286e-06	0	0	0	0	1.509e-05	0	0		PASS	TGGGCGCACAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	144493451	144493451	G	A	1	0	0	0	0	1	0	0	0	17647	1101	38	2		2	UTRN	6	144493451	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7925726	144493451	26312528	160	1333											
IYD	389434	BI	GRCh38	chr6	150398124	150398124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgagggtgctcctgggcCgccccgcacatgaaaagctg	14	13	0	2	rs750130138	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.757C>T	p.Arg253Cys	p.R253C	ENST00000344419	5/5	75	68	7	115			IYD,missense_variant,p.R253C,ENST00000344419,NM_203395.2,c.757C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;IYD,missense_variant,p.P290L,ENST00000229447,NM_001164694.1,c.869C>T,MODERATE,YES,deleterious_low_confidence(0.01),benign(0.013),1;IYD,downstream_gene_variant,,ENST00000500320,,,MODIFIER,,,,1;IYD,downstream_gene_variant,,ENST00000392255,,,MODIFIER,,,,1;IYD,downstream_gene_variant,,ENST00000392256,NM_001164695.1,,MODIFIER,,,,1;IYD,downstream_gene_variant,,ENST00000425615,,,MODIFIER,,,,1;IYD,downstream_gene_variant,,ENST00000367335,,,MODIFIER,,,,1;IYD,downstream_gene_variant,,ENST00000422583,,,MODIFIER,,,,1	T	ENST00000344419	Transcript	missense_variant	missense_variant	897/8742	757/870	253/289	R/C	Cgc/Tgc	rs750130138	1		1	IYD	HGNC	HGNC:21071	protein_coding		CCDS5227.1	ENSP00000343763	Q6PHW0		UPI00001A36F0	NM_203395.2	deleterious(0)	probably_damaging(0.999)	5/5		Pfam_domain:PF00881;Superfamily_domains:SSF55469																	MODERATE		SNV	1			1	1.647e-05	1.648e-05	0	0	0	0	2.997e-05	0	0		PASS	TGGGCCGCCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	150398124	150398124	C	T	1	0	0	0	0	1	0	0	0	7838	652	23	2		2	IYD	6	150398124	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5904673	150398124	20407855	161	1334											
ESR1	2099	BI	GRCh38	chr6	152011743	152011743	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattggtctcgtctggcgctCcatggagcacccagggaagc	14	12	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1184C>T	p.Ser395Phe	p.S395F	ENST00000206249	5/8	114	60	54	119			ESR1,missense_variant,p.S395F,ENST00000440973,NM_001122742.1&NM_001291241.1&NM_001291230.1,c.1184C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;ESR1,missense_variant,p.S395F,ENST00000206249,NM_000125.3&NM_001122741.1&NM_001291241.1&NM_001291230.1,c.1184C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;ESR1,missense_variant,p.S395F,ENST00000443427,NM_001122740.1,c.1184C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;ESR1,missense_variant,p.S222F,ENST00000427531,,c.665C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;ESR1,missense_variant,p.S395F,ENST00000338799,,c.1184C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;ESR1,missense_variant,p.S68F,ENST00000415488,,c.203C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;ESR1,intron_variant,,ENST00000456483,,c.*111-49248C>T,MODIFIER,,,,1;ESR1,intron_variant,,ENST00000406599,,c.453-49248C>T,MODIFIER,,,,1	T	ENST00000206249	Transcript	missense_variant	missense_variant	1546/6458	1184/1788	395/595	S/F	tCc/tTc		1		1	ESR1	HGNC	HGNC:3467	protein_coding		CCDS5234.1	ENSP00000206249	P03372	G4XH65	UPI000004A328	NM_000125.3;NM_001122741.1;NM_001291241.1;NM_001291230.1	deleterious(0)	probably_damaging(0.999)	5/8		Pfam_domain:PF00104;SMART_domains:SM00430;Superfamily_domains:SSF48508																	MODERATE		SNV	1			1											PASS	GCGCTCCATGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	152011743	152011743	C	T	1	0	0	0	0	1	0	0	0	5118	855	30	3		3	ESR1	6	152011743	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1613619	152011743	18794236	162	1335											
SYTL3	94120	BI	GRCh38	chr6	158760651	158760651	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccaggcggagaaataCgaagacagcgttcctcagag	12	11	1	3	rs746313196	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1320C>T	p.=	p.Y440Y	ENST00000297239	14/17	100	75	25	98			SYTL3,synonymous_variant,p.Y440Y,ENST00000611299,NM_001242394.1,c.1320C>T,LOW,YES,,,1;SYTL3,synonymous_variant,p.Y372Y,ENST00000367081,NM_001242395.1&NM_001009991.3,c.1116C>T,LOW,,,,1;SYTL3,synonymous_variant,p.Y440Y,ENST00000360448,NM_001242384.1,c.1320C>T,LOW,,,,1;SYTL3,synonymous_variant,p.Y440Y,ENST00000297239,,c.1320C>T,LOW,,,,1;MIR3918,downstream_gene_variant,,ENST00000581555,,,MODIFIER,YES,,,-1	T	ENST00000297239	Transcript	synonymous_variant	synonymous_variant	1514/2292	1320/1833	440/610	Y	taC/taT	rs746313196	1		1	SYTL3	HGNC	HGNC:15587	protein_coding		CCDS56458.1	ENSP00000297239	Q4VX76		UPI000015FE68				14/17		Superfamily_domains:SSF49562																	LOW		SNV	1			1	5.765e-05	5.766e-05	0	0.0001727	0	0	4.495e-05	0	0.0001211		PASS	AAATACGAAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1179205	True	Unknown	T	2	4	80	158760651	158760651	C	T	1	0	0	0	0	0	0	0	1	15878	547	19	1		1	SYTL3	6	158760651	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6748908	158760651	12045328	163	1336											
FNDC1	84624	BI	GRCh38	chr6	159225606	159225606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagcagatcgctaacaggcGtgtgctgattgagaacctga	12	8	0	4	rs544765580	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.956G>A	p.Arg319His	p.R319H	ENST00000297267	8/23	141	89	52	158			FNDC1,missense_variant,p.R319H,ENST00000297267,NM_032532.2,c.956G>A,MODERATE,YES,deleterious(0),unknown(0),1;FNDC1,missense_variant,p.R278H,ENST00000329629,,c.831G>A,MODERATE,,deleterious(0),probably_damaging(1),1;FNDC1,non_coding_transcript_exon_variant,,ENST00000480856,,n.591G>A,MODIFIER,,,,1	A	ENST00000297267	Transcript	missense_variant	missense_variant	1156/6552	956/5685	319/1894	R/H	cGt/cAt	rs544765580	1		1	FNDC1	HGNC	HGNC:21184	protein_coding	YES	CCDS47512.1	ENSP00000297267	Q4ZHG4		UPI0000579B80	NM_032532.2	deleterious(0)	unknown(0)	8/23		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1	2.482e-05	2.485e-05	0.0002041	0	0	0	1.499e-05	0	0		PASS	CAGGCGTGTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3023123	True	Unknown	A	3	1	80	159225606	159225606	G	A	1	0	0	0	0	1	0	0	0	5824	1145	40	1		1	FNDC1	6	159225606	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	464955	159225606	11580373	164	1337											
THBS2	7058	BI	GRCh38	chr6	169248881	169248881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtaagccggcacgccggggtCgggcccgcggaactgcttgg	18	13	0	0	rs749837715		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.145G>A	p.Asp49Asn	p.D49N	ENST00000366787	4/23	31	24	7	43			THBS2,missense_variant,p.D49N,ENST00000366787,NM_003247.3,c.145G>A,MODERATE,YES,tolerated(0.09),benign(0.002),-1;THBS2,missense_variant,p.D49N,ENST00000617924,,c.145G>A,MODERATE,,tolerated(0.09),benign(0.002),-1;THBS2,missense_variant,p.D49N,ENST00000435791,,c.145G>A,MODERATE,,tolerated(0.14),benign(0.002),-1;THBS2,upstream_gene_variant,,ENST00000472733,,,MODIFIER,,,,-1	T	ENST00000366787	Transcript	missense_variant	missense_variant	395/5811	145/3519	49/1172	D/N	Gac/Aac	rs749837715	1		-1	THBS2	HGNC	HGNC:11786	protein_coding	YES	CCDS34574.1	ENSP00000355751	P35442		UPI0000231C7F	NM_003247.3	tolerated(0.09)	benign(0.002)	4/23		SMART_domains:SM00210;Superfamily_domains:SSF49899																	MODERATE	1	SNV	1			1	8.237e-06	8.266e-06	9.641e-05	0	0	0	0	0	0		PASS	GGGGTCGGGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM343721	True	Unknown	T	3	4	80	169248881	169248881	C	T	1	0	0	0	0	1	0	0	0	16287	884	31	2		2	THBS2	6	169248881	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10023275	169248881	1557098	165	1338											
WDR27	253769	BI	GRCh38	chr6	169668046	169668046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggacagaactccaccGcagtcaccgggcccaggtgg	14	15	1	1	rs376971037	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.596C>T	p.Ala199Val	p.A199V	ENST00000448612	5/26	29	22	7	31			WDR27,missense_variant,p.A199V,ENST00000448612,NM_182552.4,c.596C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.97),-1;WDR27,intron_variant,,ENST00000423258,NM_001202550.1,c.332-2490C>T,MODIFIER,,,,-1;WDR27,downstream_gene_variant,,ENST00000474018,,,MODIFIER,,,,-1;WDR27,upstream_gene_variant,,ENST00000546525,,,MODIFIER,,,,-1;WDR27,upstream_gene_variant,,ENST00000467418,,,MODIFIER,,,,-1;WDR27,upstream_gene_variant,,ENST00000486490,,,MODIFIER,,,,-1;WDR27,downstream_gene_variant,,ENST00000464249,,,MODIFIER,,,,-1;WDR27,non_coding_transcript_exon_variant,,ENST00000496752,,n.175C>T,MODIFIER,,,,-1;WDR27,downstream_gene_variant,,ENST00000546953,,,MODIFIER,,,,-1;WDR27,upstream_gene_variant,,ENST00000476322,,,MODIFIER,,,,-1	A	ENST00000448612	Transcript	missense_variant	missense_variant	706/3178	596/2688	199/895	A/V	gCg/gTg	rs376971037	1		-1	WDR27	HGNC	HGNC:21248	protein_coding	YES	CCDS47520.2	ENSP00000416289	A2RRH5		UPI00015E06AF	NM_182552.4	deleterious(0.01)	probably_damaging(0.97)	5/26		Pfam_domain:PF00400;PROSITE_profiles:PS50082;PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978								0	1e-04								MODERATE	1	SNV	1			1	4.131e-05	3.345e-05	0	0	0	0	4.537e-05	0	6.117e-05		PASS	CCACCGCAGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	169668046	169668046	G	A	1	0	0	0	0	1	0	0	0	17844	1087	38	2		2	WDR27	6	169668046	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	419165	169668046	1137933	166	1339											
CHST12	55501	BI	GRCh38	chr7	2433252	2433252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccgctgcgcatcccgcgcGagcacgtgcacaacgccagc	11	19	0	0	rs138563894	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.613G>A	p.Glu205Lys	p.E205K	ENST00000258711	2/2	24	11	13	28			CHST12,missense_variant,p.E205K,ENST00000258711,,c.613G>A,MODERATE,YES,tolerated(0.11),benign(0.354),1;CHST12,missense_variant,p.E205K,ENST00000618655,NM_001243795.1&NM_001243794.1&NM_018641.4,c.613G>A,MODERATE,,tolerated(0.11),benign(0.354),1;CHST12,missense_variant,p.E205K,ENST00000432336,,c.613G>A,MODERATE,,deleterious(0.04),benign(0.354),1;CHST12,upstream_gene_variant,,ENST00000313156,,,MODIFIER,,,,1	A	ENST00000258711	Transcript	missense_variant	missense_variant	748/15979	613/1245	205/414	E/K	Gag/Aag	rs138563894	1		1	CHST12	HGNC	HGNC:17423	protein_coding	YES	CCDS5333.1	ENSP00000258711	Q9NRB3	A0A024R860	UPI000004C65C		tolerated(0.11)	benign(0.354)	2/2		Pfam_domain:PF03567								0	1e-04								MODERATE	1	SNV	1			1	0.0001484	0.0001438	0	0	0	0	0.0002634	0	0		panel_of_normals	CGCGCGAGCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM3026427	True	Unknown	A	3	1	80	2433252	2433252	G	A	1	0	0	0	0	1	0	0	0	3160	1059	37	2		2	CHST12	7	2433252	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		2433252	156912721	167	1340											
RADIL	55698	BI	GRCh38	chr7	4877871	4877871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctccttcaccagctcaCgggcgctggaggtgccggtg	15	15	2	0	rs369472639	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.269G>A	p.Arg90His	p.R90H	ENST00000399583	2/15	28	16	12	42			RADIL,missense_variant,p.R90H,ENST00000399583,NM_018059.4,c.269G>A,MODERATE,YES,tolerated(0.21),benign(0.039),-1;RADIL,missense_variant,p.R90H,ENST00000457174,,c.269G>A,MODERATE,,tolerated(0.16),benign(0.039),-1;RADIL,missense_variant,p.R90H,ENST00000445392,,c.269G>A,MODERATE,,tolerated(0.27),benign(0.058),-1	T	ENST00000399583	Transcript	missense_variant	missense_variant	457/3689	269/3228	90/1075	R/H	cGt/cAt	rs369472639	1		-1	RADIL	HGNC	HGNC:22226	protein_coding	YES	CCDS43544.1	ENSP00000382492	Q96JH8		UPI0000E0A787	NM_018059.4	tolerated(0.21)	benign(0.039)	2/15		Pfam_domain:PF00788;PROSITE_profiles:PS50200;SMART_domains:SM00314;Superfamily_domains:SSF54236								2e-04	0								MODERATE	1	SNV	5			1	2.484e-05	2.594e-05	0.0001117	0	0	0	3.157e-05	0	0		PASS	GCTCACGGGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3788285	True	Unknown	T	3	4	80	4877871	4877871	C	T	1	0	0	0	0	1	0	0	0	13158	536	19	1		1	RADIL	7	4877871	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2444619	4877871	154468102	168	1341											
FBXL18	80028	BI	GRCh38	chr7	5501130	5501130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcaggttgcagcaggacGccaccagagtctccaggatg	15	12	1	1	rs752384431	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1139C>T	p.Ala380Val	p.A380V	ENST00000382368	3/5	37	19	18	46			FBXL18,missense_variant,p.A380V,ENST00000382368,NM_024963.4,c.1139C>T,MODERATE,YES,tolerated(0.31),benign(0.003),-1;FBXL18,missense_variant,p.A264V,ENST00000458142,,c.790C>T,MODERATE,,,benign(0.014),-1;FBXL18,intron_variant,,ENST00000453700,,c.1086+53C>T,MODIFIER,,,,-1;FBXL18,upstream_gene_variant,,ENST00000620087,,,MODIFIER,,,,-1;FBXL18,missense_variant,p.A380V,ENST00000415009,,c.1139C>T,MODERATE,,tolerated(0.3),benign(0.003),-1	A	ENST00000382368	Transcript	missense_variant	missense_variant	1263/3498	1139/2157	380/718	A/V	gCg/gTg	rs752384431	1		-1	FBXL18	HGNC	HGNC:21874	protein_coding	YES	CCDS43546.1	ENSP00000371805	Q96ME1	A0A024R857	UPI000020EA59	NM_024963.4	tolerated(0.31)	benign(0.003)	3/5		Superfamily_domains:SSF52047																	MODERATE	1	SNV	5			1	2.479e-05	1.761e-05	0	0	0	0	3.201e-05	0	0		PASS	AGGACGCCACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3929127;COSM3929128;COSM3929129	True	Unknown	A	3	1	80	5501130	5501130	G	A	1	0	0	0	0	1	0	0	0	5578	1087	38	2		2	FBXL18	7	5501130	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	623259	5501130	153844843	169	1342											
CYTH3	9265	BI	GRCh38	chr7	6165544	6165544	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttcaggaggaagagcttaCgggtttccgggggtcctcca	16	9	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.975+1G>A		p.X325_splice	ENST00000396741		66	34	32	90			CYTH3,splice_donor_variant,p.X325_splice,ENST00000396741,,c.975+1G>A,HIGH,,,,-1;CYTH3,splice_donor_variant,p.X324_splice,ENST00000350796,NM_004227.3,c.972+1G>A,HIGH,YES,,,-1;USP42,downstream_gene_variant,,ENST00000306177,NM_032172.2,,MODIFIER,YES,,,1;CYTH3,intron_variant,,ENST00000465320,,n.145-117G>A,MODIFIER,,,,-1;CYTH3,downstream_gene_variant,,ENST00000488964,,,MODIFIER,,,,-1;CYTH3,downstream_gene_variant,,ENST00000461891,,,MODIFIER,,,,-1;USP42,downstream_gene_variant,,ENST00000521713,,,MODIFIER,,,,1;CYTH3,downstream_gene_variant,,ENST00000495176,,,MODIFIER,,,,-1	T	ENST00000396741	Transcript	splice_donor_variant	splice_donor_variant	-/4508	975/1203	325/400				1		-1	CYTH3	HGNC	HGNC:9504	protein_coding			ENSP00000379967	O43739		UPI0000128C2A					11/12																		HIGH		SNV	5			1											PASS	GCTTACGGGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	NonExonic	COSM1091139;COSM4875326	True	Unknown	T	5	4	80	6165544	6165544	C	T	1	0	0	0	0	0	0	1	0	4010	550	19	1		1	CYTH3	7	6165544	Splice_Site	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	664414	6165544	153180429	170	1343											
BZW2	28969	BI	GRCh38	chr7	16681313	16681313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttttagcccctggaggaaCgcgcatagatgatggtgaca	12	9	0	3	rs371407289	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.248C>T	p.Thr83Met	p.T83M	ENST00000258761	4/12	24	19	5	25			BZW2,missense_variant,p.T83M,ENST00000433922,NM_001159767.1,c.248C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000258761,NM_014038.2,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000630952,,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),1;BZW2,missense_variant,p.T7M,ENST00000405202,,c.20C>T,MODERATE,,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000415365,,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000446596,,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000438834,,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.513),1;BZW2,missense_variant,p.T83M,ENST00000430000,,c.248C>T,MODERATE,,,,1;BZW2,5_prime_UTR_variant,,ENST00000452975,,c.-190C>T,MODIFIER,,,,1;BZW2,non_coding_transcript_exon_variant,,ENST00000432311,,n.400C>T,MODIFIER,,,,1;BZW2,missense_variant,p.T83M,ENST00000436868,,c.248C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.862),1;BZW2,missense_variant,p.T83M,ENST00000437745,,c.248C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),1;BZW2,non_coding_transcript_exon_variant,,ENST00000480517,,n.294C>T,MODIFIER,,,,1	T	ENST00000258761	Transcript	missense_variant	missense_variant	413/1860	248/1260	83/419	T/M	aCg/aTg	rs371407289	1		1	BZW2	HGNC	HGNC:18808	protein_coding		CCDS5362.1	ENSP00000258761	Q9Y6E2	A0A024RA42	UPI000003B445	NM_014038.2	deleterious(0)	possibly_damaging(0.513)	4/12										2e-04	0								MODERATE		SNV	1			1	5.765e-05	5.802e-05	0.0005794	0	0	0	1.505e-05	0	0		PASS	AGGAACGCGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	16681313	16681313	C	T	1	0	0	0	0	1	0	0	0	1754	536	19	1		1	BZW2	7	16681313	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10515769	16681313	142664660	171	1344											
TNS3	64759	BI	GRCh38	chr7	47293777	47293777	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaccgcactcccttcGgggtacactcgatcaaaaag	7	14	2	0	rs375611617	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3728C>T	p.Pro1243Leu	p.P1243L	ENST00000311160	25/31	61	34	27	69			TNS3,missense_variant,p.P1243L,ENST00000311160,NM_022748.11,c.3728C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.741),-1	A	ENST00000311160	Transcript	missense_variant	missense_variant	4086/7618	3728/4338	1243/1445	P/L	cCg/cTg	rs375611617	1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11	deleterious(0.01)	possibly_damaging(0.741)	25/31		Pfam_domain:PF00017;PROSITE_profiles:PS50001;SMART_domains:SM00252;Superfamily_domains:SSF55550								3e-04	0								MODERATE	1	SNV	1			1	1.655e-05	1.656e-05	0.000102	0	0	0	0	0	6.057e-05		panel_of_normals	CCTTCGGGGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM4735203	True	Unknown	A	3	1	80	47293777	47293777	G	A	1	0	0	0	0	1	0	0	0	16818	1116	39	2		2	TNS3	7	47293777	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	30612464	47293777	112052196	172	1345											
TNS3	64759	BI	GRCh38	chr7	47368654	47368654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaacctgggtttgaaCgctttgctgggagagggctg	16	8	0	2	rs374818505	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1992G>A	p.=	p.A664A	ENST00000311160	17/31	161	129	32	183			TNS3,synonymous_variant,p.A664A,ENST00000311160,NM_022748.11,c.1992G>A,LOW,YES,,,-1;TNS3,synonymous_variant,p.A767A,ENST00000457718,,c.2301G>A,LOW,,,,-1;TNS3,downstream_gene_variant,,ENST00000450444,,,MODIFIER,,,,-1;TNS3,downstream_gene_variant,,ENST00000469470,,,MODIFIER,,,,-1	T	ENST00000311160	Transcript	synonymous_variant	synonymous_variant	2350/7618	1992/4338	664/1445	A	gcG/gcA	rs374818505	1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11			17/31										2e-04	0								LOW	1	SNV	1			1	2.48e-05	2.669e-05	0.0001037	0	0	0	3.102e-05	0	0		PASS	TTGAACGCTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	47368654	47368654	C	T	1	0	0	0	0	0	0	0	1	16818	523	19	1		1	TNS3	7	47368654	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	74877	47368654	111977319	173	1346											
TNS3	64759	BI	GRCh38	chr7	47369008	47369008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcccgctcataggggccGtccatgccaaggcccaggtc	12	17	1	0	rs375420968	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1638C>T	p.=	p.D546D	ENST00000311160	17/31	50	38	12	67			TNS3,synonymous_variant,p.D546D,ENST00000311160,NM_022748.11,c.1638C>T,LOW,YES,,,-1;TNS3,synonymous_variant,p.D649D,ENST00000457718,,c.1947C>T,LOW,,,,-1;TNS3,downstream_gene_variant,,ENST00000450444,,,MODIFIER,,,,-1;TNS3,downstream_gene_variant,,ENST00000469470,,,MODIFIER,,,,-1	A	ENST00000311160	Transcript	synonymous_variant	synonymous_variant	1996/7618	1638/4338	546/1445	D	gaC/gaT	rs375420968	1		-1	TNS3	HGNC	HGNC:21616	protein_coding	YES	CCDS5506.2	ENSP00000312143	Q68CZ2		UPI00001AE9DA	NM_022748.11			17/31			2e-04	0	0		0	0.001	0	2e-04	1e-04								LOW	1	SNV	1			1	7.44e-05	7.48e-05	0.0002058	0	0	0.0001513	7.528e-05	0	6.058e-05		PASS	GGGCCGTCCAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1090119	True	Unknown	A	2	1	80	47369008	47369008	G	A	1	0	0	0	0	0	0	0	1	16818	1136	40	1		1	TNS3	7	47369008	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	354	47369008	111976965	174	1347											
TBL2	26608	BI	GRCh38	chr7	73573956	73573956	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagtcagggctgaagCgcaccagggtggcgtggtcc	16	12	1	1	rs373074498	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.428G>A	p.Arg143His	p.R143H	ENST00000305632	3/7	83	48	35	92			TBL2,missense_variant,p.R143H,ENST00000305632,NM_012453.2,c.428G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.836),-1;TBL2,missense_variant,p.R143H,ENST00000610724,,c.428G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.836),-1;TBL2,missense_variant,p.R107H,ENST00000432538,,c.320G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.836),-1;TBL2,missense_variant,p.R48H,ENST00000479892,,c.143G>A,MODERATE,,deleterious(0.02),possibly_damaging(0.836),-1;TBL2,splice_region_variant,,ENST00000476136,,n.428+5G>A,LOW,,,,-1;TBL2,non_coding_transcript_exon_variant,,ENST00000459913,,n.595G>A,MODIFIER,,,,-1;TBL2,non_coding_transcript_exon_variant,,ENST00000452475,,n.513G>A,MODIFIER,,,,-1;TBL2,non_coding_transcript_exon_variant,,ENST00000465279,,n.673G>A,MODIFIER,,,,-1;TBL2,downstream_gene_variant,,ENST00000468669,,,MODIFIER,,,,-1;TBL2,splice_region_variant,,ENST00000450285,,c.423+5G>A,LOW,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000424598,,c.*345G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000417008,,c.*165G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000433464,,c.*37G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000426966,,c.*361G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000435792,,c.*554G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000437521,,c.*361G>A,MODIFIER,,,,-1;TBL2,3_prime_UTR_variant,,ENST00000452125,,c.*169G>A,MODIFIER,,,,-1;TBL2,non_coding_transcript_exon_variant,,ENST00000469518,,n.506G>A,MODIFIER,,,,-1;TBL2,non_coding_transcript_exon_variant,,ENST00000496056,,n.455G>A,MODIFIER,,,,-1;TBL2,upstream_gene_variant,,ENST00000488915,,,MODIFIER,,,,-1;TBL2,downstream_gene_variant,,ENST00000458466,,,MODIFIER,,,,-1;TBL2,upstream_gene_variant,,ENST00000495885,,,MODIFIER,,,,-1	T	ENST00000305632	Transcript	missense_variant	missense_variant	670/3161	428/1344	143/447	R/H	cGc/cAc	rs373074498	1		-1	TBL2	HGNC	HGNC:11586	protein_coding	YES	CCDS5551.1	ENSP00000307260	Q9Y4P3		UPI0000048EF4	NM_012453.2	deleterious(0.01)	possibly_damaging(0.836)	3/7		PROSITE_profiles:PS50294;Superfamily_domains:SSF50978								5e-04	0								MODERATE	1	SNV	1			1	2.471e-05	2.478e-05	0.0002889	0	0	0	0	0	0		PASS	TGAAGCGCACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	73573956	73573956	C	T	1	0	0	0	0	1	0	0	0	16047	768	27	2		2	TBL2	7	73573956	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26204948	73573956	85772017	175	1348											
GTF2IRD2	84163	BI	GRCh38	chr7	74797159	74797159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttttgctaggaacgcccGgatcaggtcatacatctgcg	11	11	3	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2353C>T	p.Arg785Trp	p.R785W	ENST00000451013	16/16	43	22	21	243			GTF2IRD2,missense_variant,p.R785W,ENST00000451013,NM_173537.3,c.2353C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;GTF2IRD2,downstream_gene_variant,,ENST00000625377,,,MODIFIER,,,,-1;GTF2IRD2,downstream_gene_variant,,ENST00000610955,,,MODIFIER,,,,-1	A	ENST00000451013	Transcript	missense_variant	missense_variant	2543/3558	2353/2850	785/949	R/W	Cgg/Tgg		1		-1	GTF2IRD2	HGNC	HGNC:30775	protein_coding	YES	CCDS5576.1	ENSP00000406723		A0A0A0MSY2	UPI00033350AC	NM_173537.3	deleterious(0)	probably_damaging(0.997)	16/16		Superfamily_domains:SSF53098																	MODERATE	1	SNV	1			1											PASS	CGCCCGGATCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	74797159	74797159	G	A	1	0	0	0	0	1	0	0	0	6750	1115	39	2		2	GTF2IRD2	7	74797159	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1223203	74797159	84548814	176	1349											
CACNA2D1	781	BI	GRCh38	chr7	82005772	82005772	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatttcatcttactgtaaaaCgtggtgtcagtcttttaata	6	6	4	0	rs758561622	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1508G>A	p.Arg503His	p.R503H	ENST00000356253	17/39	46	24	22	75			CACNA2D1,missense_variant,p.R503H,ENST00000356860,NM_000722.2,c.1508G>A,MODERATE,YES,deleterious(0.05),benign(0.048),-1;CACNA2D1,missense_variant,p.R503H,ENST00000356253,,c.1508G>A,MODERATE,,deleterious(0.05),benign(0.033),-1;CACNA2D1,missense_variant,p.R7H,ENST00000443883,,c.19G>A,MODERATE,,deleterious(0.04),benign(0.016),-1;AC006145.4,upstream_gene_variant,,ENST00000439234,,,MODIFIER,YES,,,1;AC006145.4,upstream_gene_variant,,ENST00000454066,,,MODIFIER,,,,1;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000464354,,n.524G>A,MODIFIER,,,,-1;CACNA2D1,non_coding_transcript_exon_variant,,ENST00000466806,,n.244G>A,MODIFIER,,,,-1;CACNA2D1,downstream_gene_variant,,ENST00000475237,,,MODIFIER,,,,-1	T	ENST00000356253	Transcript	missense_variant	missense_variant	1764/3858	1508/3312	503/1103	R/H	cGt/cAt	rs758561622	1		-1	CACNA2D1	HGNC	HGNC:1399	protein_coding			ENSP00000348589	P54289		UPI0001B9E74B		deleterious(0.05)	benign(0.033)	17/39		Pfam_domain:PF02743																	MODERATE		SNV	5			1	5.766e-05	5.785e-05	0	0.000608	0	0	0	0	0		PASS	TAAAACGTGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	82005772	82005772	C	T	1	0	0	0	0	1	0	0	0	2236	536	19	1		1	CACNA2D1	7	82005772	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7208613	82005772	77340201	177	1350											
KIAA1324L	222223	BI	GRCh38	chr7	86897555	86897555	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatggaagtcatgctccGtacacagagggcaagcttca	10	11	3	1	rs760928278		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2636C>T	p.Thr879Met	p.T879M	ENST00000450689	19/22	48	37	11	55			KIAA1324L,missense_variant,p.T879M,ENST00000450689,NM_001142749.2&NM_001291990.1,c.2636C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.897),-1;KIAA1324L,missense_variant,p.T808M,ENST00000444627,,c.2423C>T,MODERATE,,deleterious(0),probably_damaging(0.934),-1;KIAA1324L,missense_variant,p.T712M,ENST00000416314,NM_152748.3,c.2135C>T,MODERATE,,deleterious(0),benign(0.135),-1;KIAA1324L,missense_variant,p.T840M,ENST00000423294,,c.2517C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),-1;KIAA1324L,3_prime_UTR_variant,,ENST00000394714,,c.*1908C>T,MODIFIER,,,,-1;KIAA1324L,upstream_gene_variant,,ENST00000480216,,,MODIFIER,,,,-1	A	ENST00000450689	Transcript	missense_variant	missense_variant	2822/6841	2636/3090	879/1029	T/M	aCg/aTg	rs760928278	1		-1	KIAA1324L	HGNC	HGNC:21945	protein_coding	YES	CCDS47632.1	ENSP00000413445	A8MWY0		UPI000173AA00	NM_001142749.2;NM_001291990.1	deleterious(0)	possibly_damaging(0.897)	19/22																			MODERATE	1	SNV	5			1	8.237e-06	8.261e-06	0	0	0	0	0	0	6.059e-05		PASS	GCTCCGTACAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM245241	True	Unknown	A	3	1	80	86897555	86897555	G	A	1	0	0	0	0	1	0	0	0	8112	1145	40	1		1	KIAA1324L	7	86897555	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4891783	86897555	72448418	178	1351											
PTCD1	26024	BI	GRCh38	chr7	99424909	99424909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaggaccggcaacagCgccttggccccctccaggtc	11	17	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1623G>A	p.=	p.A541A	ENST00000292478	6/8	30	22	8	36			PTCD1,synonymous_variant,p.A541A,ENST00000292478,NM_015545.3,c.1623G>A,LOW,YES,,,-1;ATP5J2-PTCD1,synonymous_variant,p.A590A,ENST00000413834,NM_001198879.1,c.1770G>A,LOW,YES,,,-1;PTCD1,downstream_gene_variant,,ENST00000485746,,,MODIFIER,,,,-1	T	ENST00000292478	Transcript	synonymous_variant	synonymous_variant	1874/5582	1623/2103	541/700	A	gcG/gcA		1		-1	PTCD1	HGNC	HGNC:22198	protein_coding	YES	CCDS34691.1	ENSP00000292478	O75127	A4D273	UPI0000223FFA	NM_015545.3			6/8																			LOW	1	SNV	1			1											PASS	AACAGCGCCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	99424909	99424909	C	T	1	0	0	0	0	0	0	0	1	12880	755	27	2		2	PTCD1	7	99424909	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12527354	99424909	59921064	179	1352											
PVRIG	79037	BI	GRCh38	chr7	100220121	100220121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttccacagggaccccGgaggtgtgggttcaagttcg	15	10	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.126G>A	p.=	p.P42P	ENST00000317271	3/6	8	3	5	8			PVRIG,synonymous_variant,p.P42P,ENST00000317271,NM_024070.3,c.126G>A,LOW,YES,,,1;GATS,intron_variant,,ENST00000436886,NM_178831.6,c.*48+3449C>T,MODIFIER,YES,,,-1;GATS,intron_variant,,ENST00000454084,,c.535+2476C>T,MODIFIER,,,,-1;AC005071.3,upstream_gene_variant,,ENST00000627294,,,MODIFIER,YES,,,-1;AC005071.1,upstream_gene_variant,,ENST00000410550,,,MODIFIER,YES,,,-1;GATS,intron_variant,,ENST00000440058,,n.191+3449C>T,MODIFIER,,,,-1;GATS,intron_variant,,ENST00000437485,,n.129+3449C>T,MODIFIER,,,,-1;GATS,downstream_gene_variant,,ENST00000538588,,,MODIFIER,,,,-1;PVRIG,downstream_gene_variant,,ENST00000471803,,,MODIFIER,,,,1;GATS,upstream_gene_variant,,ENST00000445230,,,MODIFIER,,,,-1;STAG3,3_prime_UTR_variant,,ENST00000451963,,c.*1363G>A,MODIFIER,,,,1;GATS,intron_variant,,ENST00000328453,,c.*172+2476C>T,MODIFIER,,,,-1;GATS,intron_variant,,ENST00000543273,,c.*172+2476C>T,MODIFIER,,,,-1;GATS,intron_variant,,ENST00000414739,,c.*172+2476C>T,MODIFIER,,,,-1;GATS,intron_variant,,ENST00000435519,,c.*172+2476C>T,MODIFIER,,,,-1	A	ENST00000317271	Transcript	synonymous_variant	synonymous_variant	489/1583	126/981	42/326	P	ccG/ccA		1		1	PVRIG	HGNC	HGNC:32190	protein_coding	YES	CCDS5690.1	ENSP00000316675	Q6DKI7		UPI000013FFF0	NM_024070.3			3/6																			LOW	1	SNV	1			1											PASS	ACCCCGGAGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	100220121	100220121	G	A	1	0	0	0	0	0	0	0	1	12996	1103	39	2		2	PVRIG	7	100220121	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	795212	100220121	59125852	180	1353											
TRIM56	81844	BI	GRCh38	chr7	101087775	101087775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggtgggctacagggccGggtggtatgatgaggaggcc	19	8	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.463G>A	p.Gly155Arg	p.G155R	ENST00000306085	3/3	17	12	5	20			TRIM56,missense_variant,p.G155R,ENST00000306085,NM_030961.1,c.463G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),1;TRIM56,missense_variant,p.G155R,ENST00000412507,,c.463G>A,MODERATE,,deleterious(0),probably_damaging(0.995),1;TRIM56,downstream_gene_variant,,ENST00000467847,,,MODIFIER,,,,1;TRIM56,upstream_gene_variant,,ENST00000487252,,,MODIFIER,,,,1	A	ENST00000306085	Transcript	missense_variant	missense_variant	760/10952	463/2268	155/755	G/R	Ggg/Agg		1		1	TRIM56	HGNC	HGNC:19028	protein_coding	YES	CCDS43625.1	ENSP00000305161	Q9BRZ2			NM_030961.1	deleterious(0)	probably_damaging(0.996)	3/3																			MODERATE	1	SNV	1			1											PASS	GGGCCGGGTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	101087775	101087775	G	A	1	0	0	0	0	1	0	0	0	17023	1116	39	2		2	TRIM56	7	101087775	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	867654	101087775	58258198	181	1354											
MYL10	93408	BI	GRCh38	chr7	101616294	101616294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaatggtctcctctgggtcCgtgcctataagcagcacata	10	11	2	1	rs567400190	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.459G>A	p.=	p.T153T	ENST00000223167	6/8	17	13	4	39			MYL10,synonymous_variant,p.T153T,ENST00000223167,NM_138403.4,c.459G>A,LOW,YES,,,-1	T	ENST00000223167	Transcript	synonymous_variant	synonymous_variant	637/1009	459/681	153/226	T	acG/acA	rs567400190	1		-1	MYL10	HGNC	HGNC:29825	protein_coding	YES	CCDS34713.1	ENSP00000223167	Q9BUA6		UPI00001BBFAD	NM_138403.4			6/8		Superfamily_domains:SSF47473	2e-04	0	0		0.001	0	0										LOW	1	SNV	1			1	7.413e-05	7.496e-05	0	0.0005259	0.0001164	0.0001524	1.512e-05	0	0		panel_of_normals	GGGTCCGTGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	101616294	101616294	C	T	1	0	0	0	0	0	0	0	1	10044	666	23	2		2	MYL10	7	101616294	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	528519	101616294	57729679	182	1355											
FOXP2	93986	BI	GRCh38	chr7	114664354	114664354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtggcctactgcaggccGtccacgaagacctcaatggt	11	14	1	1	rs745987986		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1921G>A	p.Val641Ile	p.V641I	ENST00000350908	16/17	45	23	22	48			FOXP2,missense_variant,p.V666I,ENST00000408937,NM_148898.3,c.1996G>A,MODERATE,YES,tolerated(0.92),benign(0.017),1;FOXP2,missense_variant,p.V658I,ENST00000403559,NM_148900.3,c.1972G>A,MODERATE,,tolerated(0.93),unknown(0),1;FOXP2,missense_variant,p.V456I,ENST00000393491,,c.1366G>A,MODERATE,,tolerated(0.72),benign(0.103),1;FOXP2,missense_variant,p.V641I,ENST00000393494,,c.1921G>A,MODERATE,,tolerated(0.94),unknown(0),1;FOXP2,missense_variant,p.V641I,ENST00000350908,NM_014491.3&NM_001172766.2,c.1921G>A,MODERATE,,tolerated(0.94),unknown(0),1;FOXP2,missense_variant,p.V620I,ENST00000393498,,c.1858G>A,MODERATE,,tolerated(0.89),unknown(0),1;FOXP2,missense_variant,p.V549I,ENST00000393489,,c.1645G>A,MODERATE,,tolerated(0.92),unknown(0),1;FOXP2,3_prime_UTR_variant,,ENST00000441290,,c.*1921G>A,MODIFIER,,,,1;FOXP2,3_prime_UTR_variant,,ENST00000412402,,c.*1639G>A,MODIFIER,,,,1	A	ENST00000350908	Transcript	missense_variant	missense_variant	2237/2638	1921/2148	641/715	V/I	Gtc/Atc	rs745987986	1		1	FOXP2	HGNC	HGNC:13875	protein_coding		CCDS5760.1	ENSP00000265436	O15409		UPI000012ADEC	NM_014491.3;NM_001172766.2	tolerated(0.94)	unknown(0)	16/17																			MODERATE		SNV	1			1	8.237e-06	8.277e-06	0	0	0	0	0	0	6.061e-05		PASS	AGGCCGTCCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3411501;COSM3411502	True	Unknown	A	3	1	80	114664354	114664354	G	A	1	0	0	0	0	1	0	0	0	5892	1145	40	1		1	FOXP2	7	114664354	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13048060	114664354	44681619	183	1356											
WNT2	7472	BI	GRCh38	chr7	117297838	117297838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatgagccgctcaccccGtggcacttgcactcttgttt	9	14	2	1	rs138318436	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.627C>T	p.=	p.H209H	ENST00000265441	4/5	99	83	16	130			WNT2,missense_variant,p.R117W,ENST00000491214,,c.349C>T,MODERATE,,deleterious(0),unknown(0),-1;WNT2,synonymous_variant,p.H209H,ENST00000265441,NM_003391.2,c.627C>T,LOW,YES,,,-1;AC002465.2,upstream_gene_variant,,ENST00000436097,,,MODIFIER,YES,,,1;WNT2,3_prime_UTR_variant,,ENST00000449446,,c.*230C>T,MODIFIER,,,,-1	A	ENST00000265441	Transcript	synonymous_variant	synonymous_variant	927/2907	627/1083	209/360	H	caC/caT	rs138318436	1		-1	WNT2	HGNC	HGNC:12780	protein_coding	YES	CCDS5771.1	ENSP00000265441	P09544		UPI0000051044	NM_003391.2			4/5		Pfam_domain:PF00110;Prints_domain:PR01349;SMART_domains:SM00097	6e-04	0.0015	0.0014		0	0	0	0.0014	0								LOW	1	SNV	1			1	0.000173	0.0001744	0.001763	8.649e-05	0	0	3.024e-05	0	0		panel_of_normals	ACCCCGTGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM5472339	True	Unknown	A	2	1	80	117297838	117297838	G	A	1	0	0	0	0	0	0	0	1	17942	1136	40	1		1	WNT2	7	117297838	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2633484	117297838	42048135	184	1357											
CTTNBP2	83992	BI	GRCh38	chr7	117734992	117734992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaccgcagctgcacccagCggaaatgctgctgcaccagc	10	18	0	0	rs200782612	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3797G>A	p.Arg1266His	p.R1266H	ENST00000160373	16/23	38	31	7	38			CTTNBP2,missense_variant,p.R1266H,ENST00000160373,NM_033427.2,c.3797G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.709),-1;CTTNBP2,missense_variant,p.R754H,ENST00000446636,,c.2259G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.823),-1;CTTNBP2,downstream_gene_variant,,ENST00000435233,,,MODIFIER,,,,-1;CTTNBP2,3_prime_UTR_variant,,ENST00000441556,,c.*1711G>A,MODIFIER,,,,-1	T	ENST00000160373	Transcript	missense_variant	missense_variant	3889/5970	3797/4992	1266/1663	R/H	cGc/cAc	rs200782612	1		-1	CTTNBP2	HGNC	HGNC:15679	protein_coding	YES	CCDS5774.1	ENSP00000160373	Q8WZ74	Q20BG9	UPI000006E94A	NM_033427.2	deleterious(0)	possibly_damaging(0.709)	16/23																			MODERATE	1	SNV	1			1	3.295e-05	3.302e-05	0	0.000173	0	0	1.501e-05	0	6.075e-05		PASS	CCCAGCGGAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1312598	True	Unknown	T	3	4	80	117734992	117734992	C	T	1	0	0	0	0	1	0	0	0	3854	768	27	2		2	CTTNBP2	7	117734992	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	437154	117734992	41610981	185	1358											
SLC13A1	6561	BI	GRCh38	chr7	123147268	123147268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgtaagtttacgtgtcaCgtggcccttctttgttcgat	9	10	2	0	rs774399049		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.703G>A	p.Val235Met	p.V235M	ENST00000194130	7/15	52	43	9	63			SLC13A1,missense_variant,p.V235M,ENST00000194130,NM_022444.3,c.703G>A,MODERATE,YES,tolerated(1),benign(0.001),-1;SLC13A1,3_prime_UTR_variant,,ENST00000539873,,c.*370G>A,MODIFIER,,,,-1;SLC13A1,3_prime_UTR_variant,,ENST00000427975,,c.*646G>A,MODIFIER,,,,-1;SLC13A1,3_prime_UTR_variant,,ENST00000439260,,c.*1081G>A,MODIFIER,,,,-1	T	ENST00000194130	Transcript	missense_variant	missense_variant	743/3815	703/1788	235/595	V/M	Gtg/Atg	rs774399049	1		-1	SLC13A1	HGNC	HGNC:10916	protein_coding	YES	CCDS5786.1	ENSP00000194130	Q9BZW2	A4D0X1	UPI0000049F9D	NM_022444.3	tolerated(1)	benign(0.001)	7/15		Pfam_domain:PF00939																	MODERATE	1	SNV	1			1	8.239e-06	8.437e-06	0	0	0	0	1.533e-05	0	0		PASS	TGTCACGTGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	123147268	123147268	C	T	1	0	0	0	0	1	0	0	0	14656	536	19	1		1	SLC13A1	7	123147268	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5412276	123147268	36198705	186	1359											
MEST	4232	BI	GRCh38	chr7	130498185	130498185	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggccagcatcgtggaagCgcttttgcggcatctggggc	16	11	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.386C>T	p.Ala129Val	p.A129V	ENST00000223215	5/12	66	55	11	95			MEST,missense_variant,p.A129V,ENST00000223215,NM_002402.3&NM_001253900.1,c.386C>T,MODERATE,YES,tolerated(0.11),benign(0.007),1;MEST,missense_variant,p.A120V,ENST00000341441,NM_177524.2,c.359C>T,MODERATE,,tolerated(0.15),benign(0.007),1;MEST,missense_variant,p.A120V,ENST00000393187,NM_177525.2,c.359C>T,MODERATE,,tolerated(0.15),benign(0.007),1;MEST,missense_variant,p.A120V,ENST00000378576,,c.359C>T,MODERATE,,tolerated(0.16),benign(0.018),1;MEST,missense_variant,p.A120V,ENST00000416162,NM_001253902.1&NM_001253901.1,c.359C>T,MODERATE,,tolerated(0.16),benign(0.018),1;MEST,missense_variant,p.A129V,ENST00000437945,,c.386C>T,MODERATE,,tolerated(0.1),benign(0.037),1;MEST,missense_variant,p.A120V,ENST00000427521,,c.359C>T,MODERATE,,tolerated(0.17),benign(0.013),1;MEST,missense_variant,p.A120V,ENST00000421001,,c.359C>T,MODERATE,,tolerated(0.18),benign(0.007),1;MEST,missense_variant,p.A120V,ENST00000433159,,c.359C>T,MODERATE,,tolerated(0.12),benign(0.007),1;MEST,missense_variant,p.A120V,ENST00000437637,,c.359C>T,MODERATE,,,,1;MEST,missense_variant,p.A120V,ENST00000458161,,c.359C>T,MODERATE,,tolerated(0.17),benign(0.007),1;MEST,upstream_gene_variant,,ENST00000463263,,,MODIFIER,,,,1;MEST,downstream_gene_variant,,ENST00000399874,,,MODIFIER,,,,1;MIR335,downstream_gene_variant,,ENST00000362173,,,MODIFIER,YES,,,1;RP11-2E11.6,non_coding_transcript_exon_variant,,ENST00000604666,,n.243G>A,MODIFIER,YES,,,-1;MEST,non_coding_transcript_exon_variant,,ENST00000462132,,n.165C>T,MODIFIER,,,,1;MEST,downstream_gene_variant,,ENST00000460590,,,MODIFIER,,,,1;MEST,non_coding_transcript_exon_variant,,ENST00000475188,,n.384C>T,MODIFIER,,,,1;MEST,upstream_gene_variant,,ENST00000488093,,,MODIFIER,,,,1;MEST,upstream_gene_variant,,ENST00000494868,,,MODIFIER,,,,1	T	ENST00000223215	Transcript	missense_variant	missense_variant	607/2465	386/1008	129/335	A/V	gCg/gTg		1		1	MEST	HGNC	HGNC:7028	protein_coding	YES	CCDS5822.1	ENSP00000223215	Q5EB52	A0A024R768	UPI000006DE62	NM_002402.3;NM_001253900.1	tolerated(0.11)	benign(0.007)	5/12		Pfam_domain:PF00561;Pfam_domain:PF06342;Superfamily_domains:SSF53474																	MODERATE	1	SNV	1			1											PASS	GGAAGCGCTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	130498185	130498185	C	T	1	0	0	0	0	1	0	0	0	9429	768	27	2		2	MEST	7	130498185	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7350917	130498185	28847788	187	1360											
OR2A14	135941	BI	GRCh38	chr7	144129903	144129903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacatggcccccaagtcccGccatcctgaggagcagcaga	11	15	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.791G>A	p.Arg264His	p.R264H	ENST00000408899	1/1	116	72	44	195			OR2A14,missense_variant,p.R264H,ENST00000408899,NM_001001659.1,c.791G>A,MODERATE,YES,tolerated(0.18),benign(0.011),1;OR2A14,missense_variant,p.R264H,ENST00000627593,,c.791G>A,MODERATE,,tolerated(0.17),benign(0.006),1	A	ENST00000408899	Transcript	missense_variant	missense_variant	846/1012	791/933	264/310	R/H	cGc/cAc		1		1	OR2A14	HGNC	HGNC:15084	protein_coding	YES	CCDS43672.1	ENSP00000386137	Q96R47		UPI0000061E6E	NM_001001659.1	tolerated(0.18)	benign(0.011)	1/1		Pfam_domain:PF00001;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1											PASS	GTCCCGCCATC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	144129903	144129903	G	A	1	0	0	0	0	1	0	0	0	11053	1087	38	2		2	OR2A14	7	144129903	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	13631718	144129903	15216070	188	1361											
ZNF425	155054	BI	GRCh38	chr7	149105242	149105242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggctcttggagtggctcCgtttgtgctttagcaaatcc	12	10	1	0	rs147910083	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.629G>A	p.Arg210Gln	p.R210Q	ENST00000378061	4/4	63	44	19	82			ZNF425,missense_variant,p.R210Q,ENST00000378061,NM_001001661.2,c.629G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.909),-1;ZNF425,downstream_gene_variant,,ENST00000483014,,,MODIFIER,,,,-1;ZNF425,downstream_gene_variant,,ENST00000495685,,,MODIFIER,,,,-1	T	ENST00000378061	Transcript	missense_variant	missense_variant	762/3220	629/2259	210/752	R/Q	cGg/cAg	rs147910083	1		-1	ZNF425	HGNC	HGNC:20690	protein_coding	YES	CCDS34773.1	ENSP00000367300	Q6IV72	A0A090N7U3	UPI00001B64B9	NM_001001661.2	deleterious(0.05)	probably_damaging(0.909)	4/4		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667;Superfamily_domains:SSF57667	4e-04	0	0		0	0.002	0	2e-04	0								MODERATE	1	SNV	1			1	0.0001565	0.0001566	9.623e-05	0.000778	0	0	0.0001349	0	0		PASS	GGCTCCGTTTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	149105242	149105242	C	T	1	0	0	0	0	1	0	0	0	18471	652	23	2		2	ZNF425	7	149105242	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4975339	149105242	10240731	189	1362											
SSPO	23145	BI	GRCh38	chr7	149818723	149818723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgctcgccctgcatggCgcagccgcacccgcctctgc	10	22	1	0	rs775187743	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.11719C>T	p.Arg3907Cys	p.R3907C	ENST00000378016	81/107	21	16	5	29			SSPO,missense_variant,p.R3907C,ENST00000378016,NM_198455.2,c.11719C>T,MODERATE,YES,,probably_damaging(0.991),1;SSPO,non_coding_transcript_exon_variant,,ENST00000623373,,n.12803C>T,MODIFIER,,,,1;SSPO,upstream_gene_variant,,ENST00000492965,,,MODIFIER,,,,1;SSPO,upstream_gene_variant,,ENST00000488835,,,MODIFIER,,,,1;SSPO,upstream_gene_variant,,ENST00000461331,,,MODIFIER,,,,1	T	ENST00000378016	Transcript	missense_variant	missense_variant	11719/15589	11719/15453	3907/5150	R/C	Cgc/Tgc	rs775187743	1		1	SSPO	HGNC	HGNC:21998	protein_coding	YES		ENSP00000485256		A0A096LNW2	UPI000514C5D0	NM_198455.2		probably_damaging(0.991)	81/107		PROSITE_profiles:PS50311;PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	5			1	9.114e-05	0.0001022	0	0	0.001011	0	5.067e-05	0	0		PASS	CATGGCGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSN19733024;COSN23012945	True	Unknown	T	3	4	80	149818723	149818723	C	T	1	0	0	0	0	1	0	0	0	15566	768	27	2		2	SSPO	7	149818723	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	713481	149818723	9527250	190	1363											
SLC4A2	6522	BI	GRCh38	chr7	151071750	151071750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtccacagcgctccagggCgtggtcttctgcctgctggg	14	13	2	0	rs776758339		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2253C>T	p.=	p.G751G	ENST00000413384	15/23	64	51	13	91			SLC4A2,synonymous_variant,p.G751G,ENST00000485713,NM_001199692.1,c.2253C>T,LOW,YES,,,1;SLC4A2,synonymous_variant,p.G737G,ENST00000461735,NM_001199694.1,c.2211C>T,LOW,,,,1;SLC4A2,synonymous_variant,p.G751G,ENST00000413384,NM_003040.3,c.2253C>T,LOW,,,,1;SLC4A2,synonymous_variant,p.G669G,ENST00000310317,,c.2007C>T,LOW,,,,1;SLC4A2,synonymous_variant,p.G742G,ENST00000392826,NM_001199693.1,c.2226C>T,LOW,,,,1;FASTK,downstream_gene_variant,,ENST00000297532,NM_006712.4,,MODIFIER,YES,,,-1;FASTK,downstream_gene_variant,,ENST00000482571,NM_001258461.1,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000540185,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000353841,NM_033015.3,,MODIFIER,,,,-1;RP11-148K1.12,downstream_gene_variant,,ENST00000485974,,,MODIFIER,YES,,,-1;SLC4A2,non_coding_transcript_exon_variant,,ENST00000482697,,n.22C>T,MODIFIER,,,,1;FASTK,downstream_gene_variant,,ENST00000489884,,,MODIFIER,,,,-1;SLC4A2,non_coding_transcript_exon_variant,,ENST00000493040,,n.274C>T,MODIFIER,,,,1;SLC4A2,non_coding_transcript_exon_variant,,ENST00000460010,,n.86C>T,MODIFIER,,,,1;FASTK,downstream_gene_variant,,ENST00000467237,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000469237,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000466855,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000482806,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000460980,,,MODIFIER,,,,-1;FASTK,downstream_gene_variant,,ENST00000483953,,,MODIFIER,,,,-1;SLC4A2,upstream_gene_variant,,ENST00000472204,,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000480107,,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000494298,,,MODIFIER,,,,1;SLC4A2,downstream_gene_variant,,ENST00000469355,,,MODIFIER,,,,1;FASTK,downstream_gene_variant,,ENST00000465272,,,MODIFIER,,,,-1;SLC4A2,upstream_gene_variant,,ENST00000469467,,,MODIFIER,,,,1	T	ENST00000413384	Transcript	synonymous_variant	synonymous_variant	2509/4142	2253/3726	751/1241	G	ggC/ggT	rs776758339	1		1	SLC4A2	HGNC	HGNC:11028	protein_coding		CCDS5917.1	ENSP00000405600	P04920			NM_003040.3			15/23		TIGRFAM_domain:TIGR00834;Pfam_domain:PF00955																	LOW		SNV	1			1	8.236e-06	8.291e-06	9.619e-05	0	0	0	0	0	0		PASS	CAGGGCGTGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	151071750	151071750	C	T	1	0	0	0	0	0	0	0	1	14931	755	27	2		2	SLC4A2	7	151071750	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1253027	151071750	8274223	191	1364											
ASB10	136371	BI	GRCh38	chr7	151181312	151181312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccagccttcggcattgCgggcatcaggacatgccccc	13	15	1	0	rs104886476	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.731G>A	p.Arg244His	p.R244H	ENST00000420175	3/6	31	26	5	31			ASB10,missense_variant,p.R244H,ENST00000275838,NM_001142460.1,c.731G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.87),-1;ASB10,missense_variant,p.R229H,ENST00000377867,NM_080871.3,c.686G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.702),-1;ASB10,missense_variant,p.R244H,ENST00000420175,NM_001142459.1,c.731G>A,MODERATE,YES,deleterious(0.03),possibly_damaging(0.803),-1	T	ENST00000420175	Transcript	missense_variant	missense_variant	756/1694	731/1404	244/467	R/H	cGc/cAc	rs104886476	1		-1	ASB10	HGNC	HGNC:17185	protein_coding	YES	CCDS47750.2	ENSP00000391137	Q8WXI3		UPI000020F32F	NM_001142459.1	deleterious(0.03)	possibly_damaging(0.803)	3/6		Pfam_domain:PF00023;PROSITE_profiles:PS50088;PROSITE_profiles:PS50297;Superfamily_domains:SSF48403	8e-04	0	0		0.004	0	0			not_provided		10037570					MODERATE	1	SNV	1		1	1	0.0003296	0.0003388	0.0003011	0	0.004083	0	1.554e-05	0	6.074e-05		panel_of_normals	CATTGCGGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM1622572;COSM1622573;COSM1622574;COSM1622575	True	Unknown	T	3	4	80	151181312	151181312	C	T	1	0	0	0	0	1	0	0	0	1156	768	27	2		2	ASB10	7	151181312	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	109562	151181312	8164661	192	1365											
CSMD1	64478	BI	GRCh38	chr8	3406061	3406061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggtggagctccagaccacGttcccgtcttgcagtatgca	11	13	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2235C>T	p.=	p.N745N	ENST00000520002	16/71	37	23	14	57			CSMD1,synonymous_variant,p.N606N,ENST00000537824,,c.1818C>T,LOW,,,,-1;CSMD1,synonymous_variant,p.N225N,ENST00000335551,,c.673C>T,LOW,,,,-1;CSMD1,synonymous_variant,p.N745N,ENST00000520002,NM_033225.5,c.2235C>T,LOW,YES,,,-1;CSMD1,synonymous_variant,p.N745N,ENST00000602557,,c.2235C>T,LOW,,,,-1;CSMD1,synonymous_variant,p.N745N,ENST00000602723,,c.2235C>T,LOW,,,,-1;CSMD1,synonymous_variant,p.N745N,ENST00000400186,,c.2235C>T,LOW,,,,-1	A	ENST00000520002	Transcript	synonymous_variant	synonymous_variant	2791/11740	2235/10698	745/3565	N	aaC/aaT		1		-1	CSMD1	HGNC	HGNC:14026	protein_coding	YES		ENSP00000430733		E5RIG2	UPI00015D46BB	NM_033225.5			16/71		Pfam_domain:PF00084;PROSITE_profiles:PS50923;SMART_domains:SM00032;Superfamily_domains:SSF57535																	LOW	1	SNV	5			1											PASS	ACCACGTTCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	3406061	3406061	G	A	1	0	0	0	0	0	0	0	1	3745	1136	40	1		1	CSMD1	8	3406061	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		3406061	141732575	193	1366											
SGK223	157285	BI	GRCh38	chr8	8318203	8318203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaagagggccccgggctccGcagacgccaggtactggcag	16	13	0	2	rs746332662		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4172C>T	p.Ala1391Val	p.A1391V	ENST00000622241	5/5	33	16	17	53			SGK223,missense_variant,p.A1391V,ENST00000615670,,c.4172C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),-1;SGK223,missense_variant,p.A1391V,ENST00000622241,NM_001080826.1,c.4172C>T,MODERATE,,deleterious(0),probably_damaging(0.997),-1	A	ENST00000622241	Transcript	missense_variant	missense_variant	4172/4639	4172/4221	1391/1406	A/V	gCg/gTg	rs746332662	1		-1	SGK223	Uniprot_gn		protein_coding		CCDS43706.1	ENSP00000479068	Q86YV5		UPI0003EAF98F	NM_001080826.1	deleterious(0)	probably_damaging(0.997)	5/5																			MODERATE		SNV	2			1											PASS	GCTCCGCAGAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	8318203	8318203	G	A	1	0	0	0	0	1	0	0	0	14469	1087	38	2		2	SGK223	8	8318203	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4912142	8318203	136820433	194	1367											
RP1L1	94137	BI	GRCh38	chr8	10623036	10623036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtcttaaaggcgcGctggtgaacggccaggcgga	17	9	1	2	rs150931842	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.166C>T	p.Arg56Cys	p.R56C	ENST00000382483	2/4	34	29	5	53			RP1L1,missense_variant,p.R56C,ENST00000382483,NM_178857.5,c.166C>T,MODERATE,YES,,probably_damaging(1),-1;RP1L1,non_coding_transcript_exon_variant,,ENST00000329335,,n.416C>T,MODIFIER,,,,-1	A	ENST00000382483	Transcript	missense_variant	missense_variant	390/7973	166/7203	56/2400	R/C	Cgc/Tgc	rs150931842	1		-1	RP1L1	HGNC	HGNC:15946	protein_coding	YES	CCDS43708.1	ENSP00000371923		A6NKC6	UPI00001AF9CC	NM_178857.5		probably_damaging(1)	2/4		Pfam_domain:PF03607;PROSITE_profiles:PS50309;SMART_domains:SM00537;Superfamily_domains:SSF89837	0.0044	0	0.0317		0	0	0	0.0012	7e-04								MODERATE	1	SNV	1			1	0.008821	0.008949	0.001049	0.08992	0	0.0007704	0.000152	0.004525	6.058e-05		panel_of_normals	GGCGCGCTGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	3	1	80	10623036	10623036	G	A	1	0	0	0	0	1	0	0	0	13773	1087	38	2		2	RP1L1	8	10623036	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2304833	10623036	134515600	195	1368											
XPO7	23039	BI	GRCh38	chr8	21981843	21981843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactaccctgaggtcatccGattgatagccaacttcacag	7	12	2	2	rs774932634		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1070G>A	p.Arg357Gln	p.R357Q	ENST00000252512	10/28	110	59	51	135			XPO7,missense_variant,p.R357Q,ENST00000252512,NM_015024.4,c.1070G>A,MODERATE,YES,tolerated(0.79),benign(0.005),1;XPO7,missense_variant,p.R358Q,ENST00000433566,,c.1073G>A,MODERATE,,tolerated(0.79),benign(0.005),1	A	ENST00000252512	Transcript	missense_variant	missense_variant	1170/4861	1070/3264	357/1087	R/Q	cGa/cAa	rs774932634	1		1	XPO7	HGNC	HGNC:14108	protein_coding	YES	CCDS47818.1	ENSP00000252512	Q9UIA9		UPI0000134559	NM_015024.4	tolerated(0.79)	benign(0.005)	10/28		Superfamily_domains:SSF48371																	MODERATE	1	SNV	1			1	8.276e-06	8.282e-06	0	0	0	0	1.499e-05	0	0		PASS	CATCCGATTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	21981843	21981843	G	A	1	0	0	0	0	1	0	0	0	18008	1058	37	2		2	XPO7	8	21981843	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	11358807	21981843	123156793	196	1369											
CHMP7	91782	BI	GRCh38	chr8	23249355	23249355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggttccagctgaggagGtccttgtcgctgtggagctg	15	8	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.445G>A	p.Val149Ile	p.V149I	ENST00000313219	2/10	28	9	19	46			CHMP7,missense_variant,p.V149I,ENST00000397677,NM_152272.3,c.445G>A,MODERATE,YES,tolerated(0.46),benign(0.035),1;CHMP7,missense_variant,p.V149I,ENST00000313219,,c.445G>A,MODERATE,,tolerated(0.46),benign(0.035),1;CHMP7,intron_variant,,ENST00000519984,,c.510+1158G>A,MODIFIER,,,,1;CHMP7,missense_variant,p.V149I,ENST00000519414,,c.445G>A,MODERATE,,tolerated(0.44),benign(0.035),1;CHMP7,3_prime_UTR_variant,,ENST00000517325,,c.*35G>A,MODIFIER,,,,1;CHMP7,intron_variant,,ENST00000519503,,c.299+2361G>A,MODIFIER,,,,1;CHMP7,intron_variant,,ENST00000519529,,n.336+2361G>A,MODIFIER,,,,1	A	ENST00000313219	Transcript	missense_variant	missense_variant	1050/3367	445/1362	149/453	V/I	Gtc/Atc		1		1	CHMP7	HGNC	HGNC:28439	protein_coding		CCDS6040.1	ENSP00000324491	Q8WUX9		UPI0000049FB7		tolerated(0.46)	benign(0.035)	2/10		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1											PASS	AGGAGGTCCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	23249355	23249355	G	A	1	0	0	0	0	1	0	0	0	3121	1261	44	3		3	CHMP7	8	23249355	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1267512	23249355	121889281	197	1370											
GTF2E2	2961	BI	GRCh38	chr8	30653556	30653556	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggagtagaaagagctcGttttttgaacagctcccttt	9	8	0	3	rs763006801		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.43C>T	p.Arg15Ter	p.R15*	ENST00000355904	2/8	40	23	17	60			GTF2E2,stop_gained,p.R15*,ENST00000355904,NM_002095.4,c.43C>T,HIGH,YES,,,-1;GTF2E2,stop_gained,p.R15*,ENST00000518599,,c.43C>T,HIGH,,,,-1;GTF2E2,stop_gained,p.R15*,ENST00000518445,,c.43C>T,HIGH,,,,-1;GTF2E2,stop_gained,p.R15*,ENST00000523499,,c.43C>T,HIGH,,,,-1	A	ENST00000355904	Transcript	stop_gained	stop_gained	326/1762	43/876	15/291	R/*	Cga/Tga	rs763006801	1		-1	GTF2E2	HGNC	HGNC:4651	protein_coding	YES	CCDS6078.1	ENSP00000348168	P29084			NM_002095.4			2/8		PIRSF_domain:PIRSF016398																	HIGH	1	SNV	1			1	8.237e-06	8.248e-06	0	0	0	0	0	0	6.058e-05		PASS	AGCTCGTTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	30653556	30653556	G	A	1	0	0	0	0	0	1	0	0	6739	1153	40	1		1	GTF2E2	8	30653556	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7404201	30653556	114485080	198	1371											
GSR	2936	BI	GRCh38	chr8	30684166	30684166	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtattctggaattcgtctaCgatgatatgacccttgtcat	9	8	3	2	rs138721223	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1075G>A	p.Val359Ile	p.V359I	ENST00000221130	10/13	97	57	40	126			GSR,missense_variant,p.V359I,ENST00000221130,NM_000637.3,c.1075G>A,MODERATE,YES,deleterious(0),benign(0.18),-1;GSR,missense_variant,p.V330I,ENST00000546342,NM_001195102.1,c.988G>A,MODERATE,,deleterious(0),possibly_damaging(0.775),-1;GSR,missense_variant,p.V306I,ENST00000541648,NM_001195103.1,c.916G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.775),-1;GSR,missense_variant,p.V277I,ENST00000537535,NM_001195104.1,c.829G>A,MODERATE,,tolerated(0.1),probably_damaging(0.913),-1;GSR,3_prime_UTR_variant,,ENST00000523295,,c.*308G>A,MODIFIER,,,,-1	T	ENST00000221130	Transcript	missense_variant	missense_variant	1166/3119	1075/1569	359/522	V/I	Gta/Ata	rs138721223	1		-1	GSR	HGNC	HGNC:4623	protein_coding	YES	CCDS34877.1	ENSP00000221130	P00390	V9HW90	UPI000012BBFF	NM_000637.3	deleterious(0)	benign(0.18)	10/13		Pfam_domain:PF07992;TIGRFAM_domain:TIGR01421;Prints_domain:PR00368;Superfamily_domains:SSF51905	4e-04	0.0015	0		0	0	0	2e-04	0								MODERATE	1	SNV	1			1											PASS	GTCTACGATGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1099117	True	Unknown	T	3	4	80	30684166	30684166	C	T	1	0	0	0	0	1	0	0	0	6712	536	19	1		1	GSR	8	30684166	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	30610	30684166	114454470	199	1372											
ADGRA2	25960	BI	GRCh38	chr8	37841117	37841117	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgtccaagccttggcGccttctacatccctgtggct	11	14	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2779G>A	p.Ala927Thr	p.A927T	ENST00000412232	19/19	121	110	11	135			ADGRA2,missense_variant,p.A710T,ENST00000315215,,c.2128G>A,MODERATE,,deleterious(0.01),probably_damaging(0.994),1;ADGRA2,missense_variant,p.A927T,ENST00000412232,NM_032777.9,c.2779G>A,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;BRF2,downstream_gene_variant,,ENST00000220659,NM_018310.3,,MODIFIER,YES,,,-1;BRF2,downstream_gene_variant,,ENST00000520601,,,MODIFIER,,,,-1	A	ENST00000412232	Transcript	missense_variant	missense_variant	2792/5651	2779/4017	927/1338	A/T	Gcc/Acc		1		1	ADGRA2	HGNC	HGNC:17849	protein_coding	YES	CCDS6097.2	ENSP00000406367	Q96PE1		UPI00004AE50D	NM_032777.9	deleterious(0)	probably_damaging(0.994)	19/19		Pfam_domain:PF00002;PROSITE_profiles:PS50261																	MODERATE	1	SNV	1			1											PASS	TTGGCGCCTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	37841117	37841117	G	A	1	0	0	0	0	1	0	0	0	353	1087	38	2		2	ADGRA2	8	37841117	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7156951	37841117	107297519	200	1373											
DDHD2	23259	BI	GRCh38	chr8	38238156	38238156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacccacggagcagggtcGaccaagaactgtgaagagag	13	10	0	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.569G>A	p.Arg190Gln	p.R190Q	ENST00000397166	5/18	79	37	42	108			DDHD2,missense_variant,p.R190Q,ENST00000397166,NM_015214.2,c.569G>A,MODERATE,YES,deleterious(0.04),possibly_damaging(0.691),1;DDHD2,missense_variant,p.R190Q,ENST00000520272,NM_001164232.1,c.569G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.691),1;DDHD2,missense_variant,p.R190Q,ENST00000532222,,c.569G>A,MODERATE,,deleterious(0.04),probably_damaging(0.996),1;DDHD2,downstream_gene_variant,,ENST00000533100,,,MODIFIER,,,,1;DDHD2,downstream_gene_variant,,ENST00000528358,,,MODIFIER,,,,1;DDHD2,downstream_gene_variant,,ENST00000527834,,,MODIFIER,,,,1;DDHD2,upstream_gene_variant,,ENST00000532106,,,MODIFIER,,,,1;DDHD2,downstream_gene_variant,,ENST00000529642,,,MODIFIER,,,,1;DDHD2,upstream_gene_variant,,ENST00000528888,,,MODIFIER,,,,1;DDHD2,downstream_gene_variant,,ENST00000526370,,,MODIFIER,,,,1;DDHD2,3_prime_UTR_variant,,ENST00000526237,,c.*126G>A,MODIFIER,,,,1;DDHD2,non_coding_transcript_exon_variant,,ENST00000519857,,n.766G>A,MODIFIER,,,,1;DDHD2,intron_variant,,ENST00000527415,,c.411+529G>A,MODIFIER,,,,1;DDHD2,upstream_gene_variant,,ENST00000531344,,,MODIFIER,,,,1	A	ENST00000397166	Transcript	missense_variant	missense_variant	1094/4921	569/2136	190/711	R/Q	cGa/cAa		1		1	DDHD2	HGNC	HGNC:29106	protein_coding	YES	CCDS34883.1	ENSP00000380352	O94830		UPI0000160E07	NM_015214.2	deleterious(0.04)	possibly_damaging(0.691)	5/18																			MODERATE	1	SNV	2			1											PASS	GGGTCGACCAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	38238156	38238156	G	A	1	0	0	0	0	1	0	0	0	4130	1058	37	2		2	DDHD2	8	38238156	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	397039	38238156	106900480	201	1374											
PRKDC	5591	BI	GRCh38	chr8	47936500	47936500	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtcaacatcttttgcGtttataaccttgcacggctt	7	9	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1131C>T	p.=	p.N377N	ENST00000314191	12/86	38	24	14	54			PRKDC,synonymous_variant,p.N377N,ENST00000314191,NM_006904.6,c.1131C>T,LOW,YES,,,-1;PRKDC,synonymous_variant,p.N377N,ENST00000338368,NM_001081640.1,c.1131C>T,LOW,,,,-1;PRKDC,non_coding_transcript_exon_variant,,ENST00000535375,,n.418C>T,MODIFIER,,,,-1	A	ENST00000314191	Transcript	synonymous_variant	synonymous_variant	1188/13509	1131/12387	377/4128	N	aaC/aaT		1		-1	PRKDC	HGNC	HGNC:9413	protein_coding	YES	CCDS75735.1	ENSP00000313420	P78527			NM_006904.6			12/86		Superfamily_domains:SSF48371																	LOW	1	SNV	1			1											PASS	TTTGCGTTTAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5745004	True	Unknown	A	2	1	80	47936500	47936500	G	A	1	0	0	0	0	0	0	0	1	12654	1136	40	1		1	PRKDC	8	47936500	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9698344	47936500	97202136	202	1375											
SBSPON	157869	BI	GRCh38	chr8	73081144	73081144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgagcgcctccgcacaCgggttgtaggcttgcactgg	14	14	0	0	rs757345283	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.284G>A	p.Arg95His	p.R95H	ENST00000297354	2/5	62	46	16	111			SBSPON,missense_variant,p.R95H,ENST00000297354,NM_153225.3,c.284G>A,MODERATE,YES,deleterious(0),probably_damaging(0.95),-1;RP11-956J14.1,downstream_gene_variant,,ENST00000442274,,,MODIFIER,YES,,,-1;SBSPON,non_coding_transcript_exon_variant,,ENST00000519697,,n.652G>A,MODIFIER,,,,-1	T	ENST00000297354	Transcript	missense_variant	missense_variant	489/3801	284/795	95/264	R/H	cGt/cAt	rs757345283	1		-1	SBSPON	HGNC	HGNC:30362	protein_coding	YES	CCDS43747.2	ENSP00000297354	Q8IVN8		UPI0000D47CF3	NM_153225.3	deleterious(0)	probably_damaging(0.95)	2/5		PROSITE_profiles:PS50092;SMART_domains:SM00209;Superfamily_domains:SSF82895																	MODERATE	1	SNV	1			1	3.307e-05	3.352e-05	0.0001036	0	0	0	1.517e-05	0	0.000124		PASS	GCACACGGGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5419461	True	Unknown	T	3	4	80	73081144	73081144	C	T	1	0	0	0	0	1	0	0	0	14130	536	19	1		1	SBSPON	8	73081144	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25144644	73081144	72057492	203	1376											
GRHL2	79977	BI	GRCh38	chr8	101558661	101558661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacctgtgcactatccccGgggagatggggaagagcaac	13	13	0	2	rs772933548		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.527G>A	p.Arg176Gln	p.R176Q	ENST00000251808	4/16	54	41	13	82			GRHL2,missense_variant,p.R176Q,ENST00000251808,NM_024915.3,c.527G>A,MODERATE,YES,tolerated(0.44),benign(0.044),1;GRHL2,missense_variant,p.R160Q,ENST00000395927,,c.479G>A,MODERATE,,tolerated(0.45),benign(0.044),1;KB-1562D12.3,downstream_gene_variant,,ENST00000524051,,,MODIFIER,YES,,,-1	A	ENST00000251808	Transcript	missense_variant	missense_variant	865/5239	527/1878	176/625	R/Q	cGg/cAg	rs772933548	1		1	GRHL2	HGNC	HGNC:2799	protein_coding	YES	CCDS34931.1	ENSP00000251808	Q6ISB3		UPI000013CD16	NM_024915.3	tolerated(0.44)	benign(0.044)	4/16																			MODERATE	1	SNV	1			1	8.236e-06	8.24e-06	0	0	0	0	1.499e-05	0	0		PASS	TCCCCGGGGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	101558661	101558661	G	A	1	0	0	0	0	1	0	0	0	6644	1116	39	2		2	GRHL2	8	101558661	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	28477517	101558661	43579975	204	1377											
EXT1	2131	BI	GRCh38	chr8	117807321	117807321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaagtggctgcgcgcGgggtaccccacaatcctctc	11	16	1	1	rs143881630	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1779C>T	p.=	p.P593P	ENST00000378204	9/11	38	30	8	48			EXT1,synonymous_variant,p.P593P,ENST00000378204,NM_000127.2,c.1779C>T,LOW,YES,,,-1;EXT1,3_prime_UTR_variant,,ENST00000437196,,c.*670C>T,MODIFIER,,,,-1	A	ENST00000378204	Transcript	synonymous_variant	synonymous_variant	2586/8270	1779/2241	593/746	P	ccC/ccT	rs143881630	1		-1	EXT1	HGNC	HGNC:3512	protein_coding	YES	CCDS6324.1	ENSP00000367446	Q16394		UPI000012A3A1	NM_000127.2			9/11		Pfam_domain:PF09258;Superfamily_domains:SSF53448	4e-04	0	0.0029		0	0	0	2e-04	8e-04								LOW	1	SNV	1			1	0.0004695	0.0004696	9.612e-05	8.642e-05	0	0	0.0005995	0	0.0009084		panel_of_normals	CGCGCGGGGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	117807321	117807321	G	A	1	0	0	0	0	0	0	0	1	5191	1103	39	2		2	EXT1	8	117807321	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16248660	117807321	27331315	205	1378											
WISP1	8840	BI	GRCh38	chr8	133213057	133213057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttggggacaactgcaCggaggctgccatctgtgacc	14	12	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.263C>T	p.Thr88Met	p.T88M	ENST00000250160	2/5	44	38	6	73			WISP1,missense_variant,p.T88M,ENST00000250160,NM_003882.3,c.263C>T,MODERATE,YES,deleterious(0),probably_damaging(0.987),1;WISP1,missense_variant,p.T88M,ENST00000220856,NM_080838.2,c.263C>T,MODERATE,,deleterious(0.02),probably_damaging(0.991),1;WISP1,missense_variant,p.T88M,ENST00000517423,NM_001204869.1,c.263C>T,MODERATE,,deleterious(0),probably_damaging(1),1;WISP1,intron_variant,,ENST00000519433,NM_001204870.1,c.70-14354C>T,MODIFIER,,,,1;WISP1,intron_variant,,ENST00000377862,,c.70-12333C>T,MODIFIER,,,,1	T	ENST00000250160	Transcript	missense_variant	missense_variant	369/3844	263/1104	88/367	T/M	aCg/aTg		1		1	WISP1	HGNC	HGNC:12769	protein_coding	YES	CCDS6371.1	ENSP00000250160	O95388		UPI00000359FE	NM_003882.3	deleterious(0)	probably_damaging(0.987)	2/5		Pfam_domain:PF00219;PROSITE_profiles:PS50311;SMART_domains:SM00121;PIRSF_domain:PIRSF036495																	MODERATE	1	SNV	1			1											PASS	CTGCACGGAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	133213057	133213057	C	T	1	0	0	0	0	1	0	0	0	17928	536	19	1		1	WISP1	8	133213057	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15405736	133213057	11925579	206	1379											
COL22A1	169044	BI	GRCh38	chr8	138755180	138755180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctcctggaggaccgggggCgccttggtgacctctgggtc	17	12	1	1	rs768903455	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2008G>A	p.Ala670Thr	p.A670T	ENST00000303045	21/65	53	34	19	61			COL22A1,missense_variant,p.A670T,ENST00000303045,NM_152888.1,c.2008G>A,MODERATE,YES,,unknown(0),-1;COL22A1,missense_variant,p.A383T,ENST00000435777,,c.1147G>A,MODERATE,,tolerated(0.52),unknown(0),-1	T	ENST00000303045	Transcript	missense_variant	missense_variant	2455/6346	2008/4881	670/1626	A/T	Gcc/Acc	rs768903455	1		-1	COL22A1	HGNC	HGNC:22989	protein_coding	YES	CCDS6376.1	ENSP00000303153	Q8NFW1			NM_152888.1		unknown(0)	21/65		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1	2.471e-05	2.476e-05	0	0	0	0	1.501e-05	0	0.0001219		panel_of_normals	GGGGGCGCCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	138755180	138755180	C	T	1	0	0	0	0	1	0	0	0	3469	768	27	2		2	COL22A1	8	138755180	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5542123	138755180	6383456	207	1380											
SLC45A4	57210	BI	GRCh38	chr8	141217154	141217154	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccatcttgaccccggcGttgtaggcttgccaggcggt	13	14	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1665C>T	p.=	p.N555N	ENST00000517878	5/8	42	28	14	69			SLC45A4,synonymous_variant,p.N504N,ENST00000519067,NM_001286648.1,c.1512C>T,LOW,,,,-1;SLC45A4,synonymous_variant,p.N504N,ENST00000024061,NM_001080431.2,c.1512C>T,LOW,,,,-1;SLC45A4,synonymous_variant,p.N555N,ENST00000517878,NM_001286646.1,c.1665C>T,LOW,YES,,,-1;SLC45A4,downstream_gene_variant,,ENST00000520137,,,MODIFIER,,,,-1;SLC45A4,downstream_gene_variant,,ENST00000519986,,,MODIFIER,,,,-1	A	ENST00000517878	Transcript	synonymous_variant	synonymous_variant	1665/3470	1665/2427	555/808	N	aaC/aaT		1		-1	SLC45A4	HGNC	HGNC:29196	protein_coding	YES	CCDS75795.1	ENSP00000428137		E7EV90	UPI0001E8F5C7	NM_001286646.1			5/8		Superfamily_domains:SSF103473																	LOW	1	SNV	1			1											PASS	CCGGCGTTGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5659297;COSM5659298	True	Unknown	A	2	1	80	141217154	141217154	G	A	1	0	0	0	0	0	0	0	1	14920	1136	40	1		1	SLC45A4	8	141217154	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2461974	141217154	3921482	208	1381											
EPPK1	83481	BI	GRCh38	chr8	143871042	143871042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaggccacgtccacgggcaCgcggtggctgtgcacggggt	18	12	0	0	rs746589906	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2212G>A	p.Val738Met	p.V738M	ENST00000615648	2/2	78	70	8	96			EPPK1,missense_variant,p.V738M,ENST00000615648,NM_031308.3,c.2212G>A,MODERATE,YES,,benign(0.058),-1;EPPK1,missense_variant,p.V713M,ENST00000568225,,c.2137G>A,MODERATE,,,benign(0.058),-1	T	ENST00000615648	Transcript	missense_variant	missense_variant	2284/16002	2212/15267	738/5088	V/M	Gtg/Atg	rs746589906	1		-1	EPPK1	HGNC	HGNC:15577	protein_coding	YES	CCDS75800.1	ENSP00000484472		A0A087X1U6	UPI0002065B93	NM_031308.3		benign(0.058)	2/2		Pfam_domain:PF00681;SMART_domains:SM00250;Superfamily_domains:SSF75399																	MODERATE	1	SNV	5			1	2.483e-05	2.509e-05	0	0	0.0001161	0	1.52e-05	0	6.062e-05		PASS	GGGCACGCGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	143871042	143871042	C	T	1	0	0	0	0	1	0	0	0	5038	536	19	1		1	EPPK1	8	143871042	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2653888	143871042	1267594	209	1382											
PLEC	5339	BI	GRCh38	chr8	143916620	143916620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggcacgcggcccggcgtgtCgggctcgatcaagccgccgg	18	15	1	0	rs782439392	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.13612G>A	p.Asp4538Asn	p.D4538N	ENST00000322810	32/32	38	17	21	53			PLEC,missense_variant,p.D4538N,ENST00000322810,NM_201380.3,c.13612G>A,MODERATE,YES,,probably_damaging(0.953),-1;PLEC,missense_variant,p.D4401N,ENST00000345136,NM_201384.2,c.13201G>A,MODERATE,,,probably_damaging(0.997),-1;PLEC,missense_variant,p.D4428N,ENST00000436759,NM_000445.4,c.13282G>A,MODERATE,,,probably_damaging(0.922),-1;PLEC,missense_variant,p.D4379N,ENST00000354958,NM_201379.2,c.13135G>A,MODERATE,,,probably_damaging(0.922),-1;PLEC,missense_variant,p.D4401N,ENST00000354589,NM_201382.3,c.13201G>A,MODERATE,,,probably_damaging(0.963),-1;PLEC,missense_variant,p.D4405N,ENST00000357649,NM_201383.2,c.13213G>A,MODERATE,,,possibly_damaging(0.848),-1;PLEC,missense_variant,p.D4387N,ENST00000356346,NM_201378.3,c.13159G>A,MODERATE,,,possibly_damaging(0.894),-1;PLEC,missense_variant,p.D4369N,ENST00000398774,NM_201381.2,c.13105G>A,MODERATE,,,possibly_damaging(0.859),-1;PLEC,missense_variant,p.D4424N,ENST00000527096,,c.13270G>A,MODERATE,,,possibly_damaging(0.859),-1	T	ENST00000322810	Transcript	missense_variant	missense_variant	13782/15249	13612/14055	4538/4684	D/N	Gac/Aac	rs782439392	1		-1	PLEC	HGNC	HGNC:9069	protein_coding	YES	CCDS43772.1	ENSP00000323856	Q15149		UPI0000233FCD	NM_201380.3		probably_damaging(0.953)	32/32		Pfam_domain:PF00681;SMART_domains:SM00250;Superfamily_domains:SSF75399																	MODERATE	1	SNV	1			1	3.329e-05	3.585e-05	0	8.894e-05	0.0002443	0	1.653e-05	0	0		PASS	CGTGTCGGGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	143916620	143916620	C	T	1	0	0	0	0	1	0	0	0	12145	884	31	2		2	PLEC	8	143916620	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	45578	143916620	1222016	210	1383											
FREM1	158326	BI	GRCh38	chr9	14776082	14776082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggggaaagcaggcccaCggccccttgggccagtctca	14	14	2	0	rs61735747	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4564G>A	p.Val1522Met	p.V1522M	ENST00000380880	25/37	86	71	15	89			FREM1,missense_variant,p.V1522M,ENST00000422223,NM_144966.5,c.4564G>A,MODERATE,YES,tolerated(0.79),benign(0.003),-1;FREM1,missense_variant,p.V1522M,ENST00000380880,,c.4564G>A,MODERATE,,tolerated(0.79),benign(0.003),-1;FREM1,missense_variant,p.V58M,ENST00000380894,NM_001177704.1,c.172G>A,MODERATE,,tolerated(1),benign(0.003),-1;FREM1,non_coding_transcript_exon_variant,,ENST00000466679,,n.594G>A,MODIFIER,,,,-1;FREM1,non_coding_transcript_exon_variant,,ENST00000485068,,n.440G>A,MODIFIER,,,,-1;FREM1,upstream_gene_variant,,ENST00000486223,,,MODIFIER,,,,-1;FREM1,intron_variant,,ENST00000380875,,c.3981+16661G>A,MODIFIER,,,,-1;FREM1,upstream_gene_variant,,ENST00000427623,,,MODIFIER,,,,-1	T	ENST00000380880	Transcript	missense_variant	missense_variant	5348/7324	4564/6540	1522/2179	V/M	Gtg/Atg	rs61735747	1		-1	FREM1	HGNC	HGNC:23399	protein_coding		CCDS47952.1	ENSP00000370262	Q5H8C1		UPI000057A218		tolerated(0.79)	benign(0.003)	25/37			0.0024	0.0091	0		0	0	0	0.0062	0								MODERATE		SNV	5			1	0.000736	0.0007521	0.006033	0.0001731	0.0002323	0	7.572e-05	0.001147	0.001345		panel_of_normals	GCCCACGGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM422410;COSM4812298	True	Unknown	T	3	4	80	14776082	14776082	C	T	1	0	0	0	0	1	0	0	0	5911	536	19	1		1	FREM1	9	14776082	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		14776082	123618635	211	1384											
DCAF12	25853	BI	GRCh38	chr9	34093295	34093295	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcttaccactgcctcGctccctggaacagacagact	9	15	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1015C>T	p.Arg339Ter	p.R339*	ENST00000361264	7/9	57	33	24	70			DCAF12,stop_gained,p.R339*,ENST00000361264,NM_015397.3,c.1015C>T,HIGH,YES,,,-1;RP11-537H15.3,intron_variant,,ENST00000448245,,n.259-2554G>A,MODIFIER,YES,,,1;DCAF12,non_coding_transcript_exon_variant,,ENST00000466402,,n.485C>T,MODIFIER,,,,-1	A	ENST00000361264	Transcript	stop_gained	stop_gained	1357/3667	1015/1362	339/453	R/*	Cga/Tga		1		-1	DCAF12	HGNC	HGNC:19911	protein_coding	YES	CCDS6549.1	ENSP00000355114	Q5T6F0		UPI00000372E8	NM_015397.3			7/9		SMART_domains:SM00320;Superfamily_domains:SSF50978																	HIGH	1	SNV	1			1											PASS	GCCTCGCTCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1108405	True	Unknown	A	4	1	80	34093295	34093295	G	A	1	0	0	0	0	0	1	0	0	4064	1095	38	2		2	DCAF12	9	34093295	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19317213	34093295	104301422	212	1385											
FRMPD1	22844	BI	GRCh38	chr9	37746717	37746717	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtgcacggccctcaCggccgccgtgttctgtttga	12	15	3	1	rs138292555	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4685C>T	p.Thr1562Met	p.T1562M	ENST00000377765	16/16	115	108	7	138			FRMPD1,missense_variant,p.T1562M,ENST00000539465,,c.4685C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;FRMPD1,missense_variant,p.T1562M,ENST00000377765,NM_014907.2,c.4685C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;RP11-613M10.9,intron_variant,,ENST00000540557,,c.*911-18689G>A,MODIFIER,YES,,,-1	T	ENST00000377765	Transcript	missense_variant	missense_variant	4784/4971	4685/4737	1562/1578	T/M	aCg/aTg	rs138292555	1		1	FRMPD1	HGNC	HGNC:29159	protein_coding		CCDS6612.1	ENSP00000366995	Q5SYB0			NM_014907.2	deleterious(0)	probably_damaging(0.999)	16/16			0.001	0	0		0	0	0.0051	0	8e-04								MODERATE		SNV	1			1	0.001277	0.001286	0.0001943	0.0004322	0.000116	0	0.0009241	0.001111	0.005149		panel_of_normals	CCTCACGGCCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	3	4	80	37746717	37746717	C	T	1	0	0	0	0	1	0	0	0	5927	536	19	1		1	FRMPD1	9	37746717	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3653422	37746717	100648000	213	1386											
GNAQ	2776	BI	GRCh38	chr9	77797577	77797577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatccctgtggtggggactCgaactctaagcacatcttgt	11	10	2	1	rs397514698		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.548G>A	p.Arg183Gln	p.R183Q	ENST00000286548	4/7	62	58	4	67			GNAQ,missense_variant,p.R183Q,ENST00000286548,NM_002072.4,c.548G>A,MODERATE,YES,deleterious(0.03),probably_damaging(1),-1;GNAQ,missense_variant,p.R154Q,ENST00000411677,,c.461G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.885),-1	T	ENST00000286548	Transcript	missense_variant	missense_variant	771/6539	548/1080	183/359	R/Q	cGa/cAa	rs397514698	1		-1	GNAQ	HGNC	HGNC:4390	protein_coding	YES	CCDS6658.1	ENSP00000286548	P50148	A0A024R240	UPI000006D0FB	NM_002072.4	deleterious(0.03)	probably_damaging(1)	4/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540;Superfamily_domains:SSF47895										pathogenic							MODERATE	1	SNV	1		1	1											PASS	GGACTCGAACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4785077;COSM52975	True	Unknown	T	3	4	80	77797577	77797577	C	T	1	0	0	0	0	1	0	0	0	6389	884	31	2		2	GNAQ	9	77797577	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	40050860	77797577	60597140	214	1387											
DAPK1	1612	BI	GRCh38	chr9	87605063	87605063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccggcggggtgtgagcCgcgaggacatcgagcgggag	20	11	0	1	rs753510016	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.172C>T	p.Arg58Cys	p.R58C	ENST00000358077	3/26	20	12	8	45			DAPK1,missense_variant,p.R58C,ENST00000469640,,c.172C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;DAPK1,missense_variant,p.R58C,ENST00000408954,NM_004938.3,c.172C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.47),1;DAPK1,missense_variant,p.R58C,ENST00000622514,NM_001288729.1,c.172C>T,MODERATE,,deleterious(0),possibly_damaging(0.47),1;DAPK1,missense_variant,p.R58C,ENST00000472284,NM_001288730.1,c.172C>T,MODERATE,,deleterious(0),possibly_damaging(0.47),1;DAPK1,missense_variant,p.R58C,ENST00000358077,NM_001288731.1,c.172C>T,MODERATE,,deleterious(0),possibly_damaging(0.47),1;DAPK1,missense_variant,p.R58C,ENST00000491893,,c.172C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;DAPK1,non_coding_transcript_exon_variant,,ENST00000496522,,n.382C>T,MODIFIER,,,,1;DAPK1,non_coding_transcript_exon_variant,,ENST00000472344,,n.306C>T,MODIFIER,,,,1;DAPK1,missense_variant,p.R58C,ENST00000489291,,c.172C>T,MODERATE,,deleterious(0),probably_damaging(0.961),1;DAPK1,non_coding_transcript_exon_variant,,ENST00000469067,,n.652C>T,MODIFIER,,,,1	T	ENST00000358077	Transcript	missense_variant	missense_variant	355/5743	172/4293	58/1430	R/C	Cgc/Tgc	rs753510016	1		1	DAPK1	HGNC	HGNC:2674	protein_coding		CCDS43842.1	ENSP00000350785	P53355		UPI0000210C2F	NM_001288731.1	deleterious(0)	possibly_damaging(0.47)	3/26		Pfam_domain:PF00069;Pfam_domain:PF07714;Pfam_domain:PF06293;Pfam_domain:PF01163;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE		SNV	1			1	1.648e-05	1.656e-05	0.0001018	0	0	0	0	0	6.058e-05		PASS	TGAGCCGCGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM304407;COSM304408	True	Unknown	T	3	4	80	87605063	87605063	C	T	1	0	0	0	0	1	0	0	0	4036	652	23	2		2	DAPK1	9	87605063	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9807486	87605063	50789654	215	1388											
ZNF367	195828	BI	GRCh38	chr9	96394864	96394864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctctccggtgtgaagaCgctgatgtgttttgagctgt	13	7	1	4			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.650G>A	p.Arg217His	p.R217H	ENST00000375256	3/5	59	38	21	86			ZNF367,missense_variant,p.R217H,ENST00000375256,NM_153695.3,c.650G>A,MODERATE,YES,deleterious(0),probably_damaging(0.965),-1	T	ENST00000375256	Transcript	missense_variant	missense_variant	947/3646	650/1053	217/350	R/H	cGt/cAt		1		-1	ZNF367	HGNC	HGNC:18320	protein_coding	YES	CCDS6718.1	ENSP00000364405	Q7RTV3		UPI000013E47A	NM_153695.3	deleterious(0)	probably_damaging(0.965)	3/5		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1											PASS	GAAGACGCTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5486762	True	Unknown	T	3	4	80	96394864	96394864	C	T	1	0	0	0	0	1	0	0	0	18443	536	19	1		1	ZNF367	9	96394864	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8789801	96394864	41999853	216	1389											
CCDC180	100499483	BI	GRCh38	chr9	97309572	97309572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgcacagcctccccaaCgactggatcatggaaaaccc	9	14	1	0	rs147529206	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.360C>T	p.=	p.N120N	ENST00000529487	3/37	35	26	9	38			CCDC180,synonymous_variant,p.N120N,ENST00000529487,NM_020893.2,c.360C>T,LOW,YES,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000534123,,n.1513C>T,MODIFIER,YES,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000375206,,n.1712C>T,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000357054,,n.1513C>T,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000529787,,n.931C>T,MODIFIER,,,,1;RP11-23J9.4,non_coding_transcript_exon_variant,,ENST00000532526,,n.1202C>T,MODIFIER,,,,1;CCDC180,non_coding_transcript_exon_variant,,ENST00000460482,,n.571C>T,MODIFIER,,,,1;CCDC180,non_coding_transcript_exon_variant,,ENST00000494917,,n.431C>T,MODIFIER,,,,1;CCDC180,downstream_gene_variant,,ENST00000472746,,,MODIFIER,,,,1	T	ENST00000529487	Transcript	synonymous_variant	synonymous_variant	457/5242	360/5106	120/1701	N	aaC/aaT	rs147529206	1		1	CCDC180	HGNC	HGNC:29303	protein_coding	YES	CCDS35077.2	ENSP00000434727	Q9P1Z9		UPI00016277C6	NM_020893.2			3/37										0	2e-04								LOW	1	SNV	1			1	4.942e-05	4.991e-05	0	0	0	0	9.07e-05	0	0		panel_of_normals	CCCAACGACTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	97309572	97309572	C	T	1	0	0	0	0	0	0	0	1	2496	535	19	1		1	CCDC180	9	97309572	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	914708	97309572	41085145	217	1390											
FKTN	2218	BI	GRCh38	chr9	105604290	105604290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagatccccggctagacGggatagactcactctctgga	11	11	2	3	rs200686690	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.445G>A	p.Gly149Arg	p.G149R	ENST00000223528	5/10	91	41	50	75			FKTN,missense_variant,p.G149R,ENST00000223528,NM_006731.2,c.445G>A,MODERATE,YES,deleterious(0.05),benign(0.013),1;FKTN,missense_variant,p.G149R,ENST00000602661,NM_001079802.1,c.445G>A,MODERATE,,deleterious(0.05),benign(0.013),1;FKTN,missense_variant,p.G149R,ENST00000357998,,c.445G>A,MODERATE,,deleterious(0.04),benign(0.023),1;FKTN,missense_variant,p.G149R,ENST00000448551,NM_001198963.1,c.445G>A,MODERATE,,deleterious(0.04),benign(0.023),1;FKTN,missense_variant,p.G126R,ENST00000374705,,c.376G>A,MODERATE,,deleterious(0.03),benign(0.256),1;FKTN,3_prime_UTR_variant,,ENST00000602526,,c.*483G>A,MODIFIER,,,,1	A	ENST00000223528	Transcript	missense_variant	missense_variant	569/7364	445/1386	149/461	G/R	Ggg/Agg	rs200686690	1		1	FKTN	HGNC	HGNC:3622	protein_coding	YES	CCDS6766.1	ENSP00000223528	O75072			NM_006731.2	deleterious(0.05)	benign(0.013)	5/10			6e-04	0	0		0	0	0.0031										MODERATE	1	SNV	1			1	3.295e-05	3.296e-05	9.61e-05	0	0	0	1.499e-05	0	0.0001211		panel_of_normals	TAGACGGGATA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	105604290	105604290	G	A	1	0	0	0	0	1	0	0	0	5781	1116	39	2		2	FKTN	9	105604290	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8294718	105604290	32790427	218	1391											
RAD23B	5887	BI	GRCh38	chr9	107322086	107322086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcagctgcagcaactaCgacagcaacaactacaacaa	8	13	0	0	rs372514872	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.785C>T	p.Thr262Met	p.T262M	ENST00000358015	7/10	77	67	10	61			RAD23B,missense_variant,p.T262M,ENST00000358015,NM_002874.4&NM_001244713.1,c.785C>T,MODERATE,YES,tolerated(0.17),possibly_damaging(0.547),1;RAD23B,missense_variant,p.T190M,ENST00000416373,NM_001244724.1,c.569C>T,MODERATE,,tolerated(0.08),possibly_damaging(0.547),1;RAD23B,intron_variant,,ENST00000457811,,c.290+3207C>T,MODIFIER,,,,1	T	ENST00000358015	Transcript	missense_variant	missense_variant	1136/4119	785/1230	262/409	T/M	aCg/aTg	rs372514872	1		1	RAD23B	HGNC	HGNC:9813	protein_coding	YES	CCDS6769.1	ENSP00000350708	P54727		UPI0000132F6C	NM_002874.4;NM_001244713.1	tolerated(0.17)	possibly_damaging(0.547)	7/10		Low_complexity_(Seg):Seg;TIGRFAM_domain:TIGR00601								0	1e-04								MODERATE	1	SNV	1			1	4.942e-05	4.954e-05	0	8.637e-05	0	0	7.508e-05	0	0		PASS	AACTACGACAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	107322086	107322086	C	T	1	0	0	0	0	1	0	0	0	13144	536	19	1		1	RAD23B	9	107322086	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1717796	107322086	31072631	219	1392											
KIAA1958	158405	BI	GRCh38	chr9	112659400	112659400	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcctgaagaatgcaggtgtCggcttttccatcaccagcag	10	11	1	2	rs773442119	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1482C>T	p.=	p.V494V	ENST00000337530	4/4	39	26	13	47			KIAA1958,synonymous_variant,p.V494V,ENST00000337530,NM_133465.3,c.1482C>T,LOW,,,,1;KIAA1958,synonymous_variant,p.V522V,ENST00000536272,NM_001287036.1,c.1566C>T,LOW,YES,,,1	T	ENST00000337530	Transcript	synonymous_variant	synonymous_variant	1778/11775	1482/2151	494/716	V	gtC/gtT	rs773442119	1		1	KIAA1958	HGNC	HGNC:23427	protein_coding		CCDS35108.1	ENSP00000336940	Q8N8K9		UPI000007327E	NM_133465.3			4/4																			LOW		SNV	1			1	0.0001153	0.0001159	0	0	0	0.0006081	0.0001506	0	0		PASS	GGTGTCGGCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	2	4	80	112659400	112659400	C	T	1	0	0	0	0	0	0	0	1	8130	871	31	2		2	KIAA1958	9	112659400	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5337314	112659400	25735317	220	1393											
OR5C1	392391	BI	GRCh38	chr9	122789588	122789588	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccacggtgttagctatcaCggtgtcttatggcttcatcg	11	10	3	0	rs772591814	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.656C>T	p.Thr219Met	p.T219M	ENST00000373680	1/1	54	32	22	60			OR5C1,missense_variant,p.T219M,ENST00000373680,NM_001001923.1,c.656C>T,MODERATE,YES,deleterious(0.02),benign(0.025),1	T	ENST00000373680	Transcript	missense_variant	missense_variant	656/963	656/963	219/320	T/M	aCg/aTg	rs772591814	1		1	OR5C1	HGNC	HGNC:8331	protein_coding	YES	CCDS35131.1	ENSP00000362784	Q8NGR4		UPI0000061E7B	NM_001001923.1	deleterious(0.02)	benign(0.025)	1/1		Pfam_domain:PF00001;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV				1	3.295e-05	3.313e-05	0	0	0	0	0	0	0.0002487		PASS	TATCACGGTGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	122789588	122789588	C	T	1	0	0	0	0	1	0	0	0	11224	536	19	1		1	OR5C1	9	122789588	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10130188	122789588	15605129	221	1394											
LRRC8A	56262	BI	GRCh38	chr9	128908072	128908072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggacattgagagcctgaCgggctaccgcacctaccgct	12	14	0	2	rs771228754	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.908C>T	p.Thr303Met	p.T303M	ENST00000259324	3/4	92	51	41	88			LRRC8A,missense_variant,p.T303M,ENST00000259324,NM_001127244.1,c.908C>T,MODERATE,YES,deleterious(0),probably_damaging(0.994),1;LRRC8A,missense_variant,p.T303M,ENST00000372600,NM_019594.3,c.908C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;LRRC8A,missense_variant,p.T303M,ENST00000372599,NM_001127245.1,c.908C>T,MODERATE,,deleterious(0),probably_damaging(0.994),1;LRRC8A,upstream_gene_variant,,ENST00000492784,,,MODIFIER,,,,1	T	ENST00000259324	Transcript	missense_variant	missense_variant	1431/4619	908/2433	303/810	T/M	aCg/aTg	rs771228754	1		1	LRRC8A	HGNC	HGNC:19027	protein_coding	YES	CCDS35155.1	ENSP00000259324	Q8IWT6	A0A024R892	UPI000004EF9E	NM_001127244.1	deleterious(0)	probably_damaging(0.994)	3/4																			MODERATE	1	SNV	2			1	2.471e-05	2.473e-05	0	0.0001728	0	0	1.499e-05	0	0		PASS	CCTGACGGGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5875632	True	Unknown	T	3	4	80	128908072	128908072	C	T	1	0	0	0	0	1	0	0	0	8925	536	19	1		1	LRRC8A	9	128908072	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6118484	128908072	9486645	222	1395											
LRRC8A	56262	BI	GRCh38	chr9	128908310	128908310	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacctcattgaccaataCgacccgctctactccaagcg	6	17	2	1	rs776535684	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1146C>T	p.=	p.Y382Y	ENST00000259324	3/4	66	43	23	72			LRRC8A,synonymous_variant,p.Y382Y,ENST00000259324,NM_001127244.1,c.1146C>T,LOW,YES,,,1;LRRC8A,synonymous_variant,p.Y382Y,ENST00000372600,NM_019594.3,c.1146C>T,LOW,,,,1;LRRC8A,synonymous_variant,p.Y382Y,ENST00000372599,NM_001127245.1,c.1146C>T,LOW,,,,1;LRRC8A,upstream_gene_variant,,ENST00000492784,,,MODIFIER,,,,1	T	ENST00000259324	Transcript	synonymous_variant	synonymous_variant	1669/4619	1146/2433	382/810	Y	taC/taT	rs776535684	1		1	LRRC8A	HGNC	HGNC:19027	protein_coding	YES	CCDS35155.1	ENSP00000259324	Q8IWT6	A0A024R892	UPI000004EF9E	NM_001127244.1			3/4																			LOW	1	SNV	2			1	1.647e-05	1.648e-05	0.0001925	0	0	0	0	0	0		PASS	CAATACGACCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	128908310	128908310	C	T	1	0	0	0	0	0	0	0	1	8925	547	19	1		1	LRRC8A	9	128908310	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	238	128908310	9486407	223	1396											
CACFD1	11094	BI	GRCh38	chr9	133463541	133463541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctctgaacattgcggcCggcgtgtggatgatgtgagt	14	10	1	3	rs113031528	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.180C>T	p.=	p.A60A	ENST00000316948	2/5	87	68	19	111			CACFD1,synonymous_variant,p.A60A,ENST00000540581,NM_001242369.1,c.180C>T,LOW,YES,,,1;CACFD1,synonymous_variant,p.A60A,ENST00000316948,NM_017586.3,c.180C>T,LOW,,,,1;CACFD1,synonymous_variant,p.A60A,ENST00000542192,NM_001242370.1,c.180C>T,LOW,,,,1;CACFD1,synonymous_variant,p.A60A,ENST00000291722,NM_001135775.2,c.180C>T,LOW,,,,1;CACFD1,synonymous_variant,p.A32A,ENST00000444798,,c.96C>T,LOW,,,,1;ADAMTS13,downstream_gene_variant,,ENST00000371929,NM_139025.4,,MODIFIER,YES,,,1;ADAMTS13,downstream_gene_variant,,ENST00000355699,NM_139027.4,,MODIFIER,,,,1;ADAMTS13,downstream_gene_variant,,ENST00000356589,NM_139026.4,,MODIFIER,,,,1;ADAMTS13,downstream_gene_variant,,ENST00000371916,,,MODIFIER,,,,1;ADAMTS13,downstream_gene_variant,,ENST00000371910,,,MODIFIER,,,,1;CACFD1,non_coding_transcript_exon_variant,,ENST00000489519,,n.249C>T,MODIFIER,,,,1;CACFD1,non_coding_transcript_exon_variant,,ENST00000474734,,n.260C>T,MODIFIER,,,,1;ADAMTS13,downstream_gene_variant,,ENST00000485925,,,MODIFIER,,,,1	T	ENST00000316948	Transcript	synonymous_variant	synonymous_variant	260/2794	180/519	60/172	A	gcC/gcT	rs113031528	1		1	CACFD1	HGNC	HGNC:1365	protein_coding		CCDS6974.1	ENSP00000317121	Q9UGQ2		UPI000003B0FD	NM_017586.3			2/5		Pfam_domain:PF10233;Transmembrane_helices:Tmhmm	4e-04	0	0		0.002	0	0	2e-04	0								LOW		SNV	1			1	0.0001318	0.000132	9.626e-05	8.645e-05	0.001502	0	0	0.001104	0		panel_of_normals	GCGGCCGGCGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	133463541	133463541	C	T	1	0	0	0	0	0	0	0	1	2224	639	23	2		2	CACFD1	9	133463541	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4555231	133463541	4931176	224	1397											
COL5A1	1289	BI	GRCh38	chr9	134805214	134805214	+	Splice_Region	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcccaccaggccctgcGgtgagtcaaagcctttgtcc	11	16	1	1	rs372844807	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3258G>A	p.=	p.A1086A	ENST00000371817	41/66	51	25	26	59			COL5A1,splice_region_variant,p.A1086A,ENST00000371817,NM_000093.4,c.3258G>A,LOW,YES,,,1;COL5A1,splice_region_variant,p.A1086A,ENST00000618395,NM_001278074.1,c.3258G>A,LOW,,,,1;COL5A1,upstream_gene_variant,,ENST00000463925,,,MODIFIER,,,,1	A	ENST00000371817	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	3672/8471	3258/5517	1086/1838	A	gcG/gcA	rs372844807	1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4			41/66		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099								2e-04	0	uncertain_significance							LOW	1	SNV	1		1	1	8.236e-05	8.254e-05	0.0002892	0	0	0	9.018e-05	0	6.056e-05		panel_of_normals	CCTGCGGTGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	5	1	80	134805214	134805214	G	A	1	0	0	0	0	0	0	1	0	3485	1130	39	2		2	COL5A1	9	134805214	Splice_Region	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1341673	134805214	3589503	225	1398											
COL5A1	1289	BI	GRCh38	chr9	134820206	134820206	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccccagggctcctccGgtcctaagggagaacaggtg	14	14	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4537G>A	p.Gly1513Ser	p.G1513S	ENST00000371817	58/66	32	24	8	50			COL5A1,missense_variant,p.G1513S,ENST00000371817,NM_000093.4,c.4537G>A,MODERATE,YES,,unknown(0),1;COL5A1,missense_variant,p.G1513S,ENST00000618395,NM_001278074.1,c.4537G>A,MODERATE,,,unknown(0),1;COL5A1,upstream_gene_variant,,ENST00000371820,,,MODIFIER,,,,1;COL5A1,upstream_gene_variant,,ENST00000460264,,,MODIFIER,,,,1;COL5A1,upstream_gene_variant,,ENST00000465877,,,MODIFIER,,,,1	A	ENST00000371817	Transcript	missense_variant	missense_variant	4951/8471	4537/5517	1513/1838	G/S	Ggt/Agt		1		1	COL5A1	HGNC	HGNC:2209	protein_coding	YES	CCDS6982.1	ENSP00000360882	P20908	A0A024R8E5	UPI0000210EE3	NM_000093.4		unknown(0)	58/66		PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CCTCCGGTCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	134820206	134820206	G	A	1	0	0	0	0	1	0	0	0	3485	1116	39	2		2	COL5A1	9	134820206	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14992	134820206	3574511	226	1399											
KCNT1	57582	BI	GRCh38	chr9	135759775	135759775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttctccaccgtgggctaCggtgacgtcacgcccaagat	10	15	2	2	rs747685419	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.894C>T	p.=	p.Y298Y	ENST00000488444	11/31	34	15	19	44			KCNT1,synonymous_variant,p.Y272Y,ENST00000628528,NM_001272003.1,c.816C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y284Y,ENST00000263604,,c.852C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y317Y,ENST00000371757,NM_020822.2,c.951C>T,LOW,YES,,,1;KCNT1,synonymous_variant,p.Y298Y,ENST00000631073,,c.894C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y317Y,ENST00000487664,,c.951C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y278Y,ENST00000486577,,c.834C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y298Y,ENST00000490355,,c.894C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y298Y,ENST00000488444,,c.894C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y298Y,ENST00000491806,,c.894C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y264Y,ENST00000630792,,c.792C>T,LOW,,,,1;KCNT1,synonymous_variant,p.Y264Y,ENST00000473941,,c.792C>T,LOW,,,,1;KCNT1,3_prime_UTR_variant,,ENST00000460750,,c.*561C>T,MODIFIER,,,,1;KCNT1,non_coding_transcript_exon_variant,,ENST00000490363,,n.770C>T,MODIFIER,,,,1	T	ENST00000488444	Transcript	synonymous_variant	synonymous_variant	897/3696	894/3693	298/1230	Y	taC/taT	rs747685419	1		1	KCNT1	HGNC	HGNC:18865	protein_coding			ENSP00000419007		C9JZ51	UPI000058E393				11/31		Transmembrane_helices:Tmhmm;Pfam_domain:PF07885;Superfamily_domains:SSF81324																	LOW		SNV	5			1	2.471e-05	2.502e-05	9.716e-05	0	0.000116	0	1.518e-05	0	0		PASS	GGCTACGGTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	135759775	135759775	C	T	1	0	0	0	0	0	0	0	1	8007	547	19	1		1	KCNT1	9	135759775	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	939569	135759775	2634942	227	1400											
CAMSAP1	157922	BI	GRCh38	chr9	135821233	135821233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggtccgtgggcgtcCgagggtggctgctggcaggg	22	10	0	0	rs749209361	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3428G>A	p.Arg1143Gln	p.R1143Q	ENST00000389532	11/17	78	42	36	83			CAMSAP1,missense_variant,p.R1143Q,ENST00000389532,NM_015447.3,c.3428G>A,MODERATE,YES,tolerated(0.38),benign(0.223),-1;CAMSAP1,missense_variant,p.R865Q,ENST00000312405,,c.2594G>A,MODERATE,,tolerated(0.24),benign(0.223),-1;CAMSAP1,missense_variant,p.R1154Q,ENST00000409386,,c.3461G>A,MODERATE,,tolerated(0.38),benign(0.027),-1;CAMSAP1,non_coding_transcript_exon_variant,,ENST00000483991,,n.2490G>A,MODIFIER,,,,-1;CAMSAP1,upstream_gene_variant,,ENST00000493088,,,MODIFIER,,,,-1;CAMSAP1,upstream_gene_variant,,ENST00000482664,,,MODIFIER,,,,-1;CAMSAP1,upstream_gene_variant,,ENST00000487868,,,MODIFIER,,,,-1	T	ENST00000389532	Transcript	missense_variant	missense_variant	3493/7696	3428/4809	1143/1602	R/Q	cGg/cAg	rs749209361	1		-1	CAMSAP1	HGNC	HGNC:19946	protein_coding	YES	CCDS35176.2	ENSP00000374183	Q5T5Y3		UPI0000EDA283	NM_015447.3	tolerated(0.38)	benign(0.223)	11/17																			MODERATE	1	SNV	5			1	2.471e-05	2.496e-05	0	8.681e-05	0.0001169	0	0	0	6.084e-05		PASS	GCGTCCGAGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	135821233	135821233	C	T	1	0	0	0	0	1	0	0	0	2303	652	23	2		2	CAMSAP1	9	135821233	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	61458	135821233	2573484	228	1401											
SEC16A	9919	BI	GRCh38	chr9	136476551	136476551	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcacagccagacccGgccccagcccccagtgggtg	15	17	0	1	rs761577334		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1065C>T	p.=	p.A355A	ENST00000313050	1/30	21	13	8	24			SEC16A,synonymous_variant,p.A355A,ENST00000290037,NM_001276418.1,c.1065C>T,LOW,,,,-1;SEC16A,synonymous_variant,p.A355A,ENST00000313050,NM_014866.1,c.1065C>T,LOW,YES,,,-1;SEC16A,synonymous_variant,p.A177A,ENST00000371706,,c.531C>T,LOW,,,,-1;SEC16A,synonymous_variant,p.A177A,ENST00000431893,,c.531C>T,LOW,,,,-1	A	ENST00000313050	Transcript	synonymous_variant	synonymous_variant	1139/8806	1065/7074	355/2357	A	gcC/gcT	rs761577334	1		-1	SEC16A	HGNC	HGNC:29006	protein_coding	YES	CCDS55351.1	ENSP00000325827		J3KNL6	UPI0000F0888B	NM_014866.1			1/30																			LOW	1	SNV	1			1	8.28e-06	8.815e-06	0	0	0	0	1.594e-05	0	0		PASS	GACCCGGCCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	136476551	136476551	G	A	1	0	0	0	0	0	0	0	1	14263	1103	39	2		2	SEC16A	9	136476551	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	655318	136476551	1918166	229	1402											
SLC34A3	142680	BI	GRCh38	chr9	137232609	137232609	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggctgcgccgcgtggcCggcagcgtcctcaaggcctg	17	15	1	0	rs755237394	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.210C>T	p.=	p.A70A	ENST00000361134	4/13	89	81	8	88			SLC34A3,synonymous_variant,p.A70A,ENST00000538474,NM_001177316.1&NM_001177317.1,c.210C>T,LOW,YES,,,1;SLC34A3,synonymous_variant,p.A70A,ENST00000361134,NM_080877.2,c.210C>T,LOW,,,,1;RNF224,downstream_gene_variant,,ENST00000445101,NM_001190228.1,,MODIFIER,YES,,,1	T	ENST00000361134	Transcript	synonymous_variant	synonymous_variant	396/2124	210/1800	70/599	A	gcC/gcT	rs755237394	1		1	SLC34A3	HGNC	HGNC:20305	protein_coding		CCDS7038.1	ENSP00000355353	Q8N130		UPI00004577EA	NM_080877.2			4/13																			LOW		SNV	2			1	1.651e-05	1.726e-05	0	0	0	0	0	0	0.000122		PASS	GTGGCCGGCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	137232609	137232609	C	T	1	0	0	0	0	0	0	0	1	14839	639	23	2		2	SLC34A3	9	137232609	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	756058	137232609	1162108	230	1403											
KIAA1217	56243	BI	GRCh38	chr10	24521895	24521895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagtctcctgaagcgtgtgCgcagcatgacagacgtcctg	12	12	1	3	rs751142962	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2422C>T	p.Arg808Cys	p.R808C	ENST00000376454	12/21	40	21	19	38			KIAA1217,missense_variant,p.R491C,ENST00000376451,,c.1471C>T,MODERATE,,deleterious(0),probably_damaging(1),1;KIAA1217,missense_variant,p.R808C,ENST00000376454,NM_019590.4,c.2422C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;KIAA1217,missense_variant,p.R728C,ENST00000376462,NM_001098500.2,c.2182C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;KIAA1217,missense_variant,p.R773C,ENST00000376452,NM_001282767.1,c.2317C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;KIAA1217,missense_variant,p.R773C,ENST00000458595,NM_001282768.1,c.2317C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;KIAA1217,missense_variant,p.R728C,ENST00000430453,,c.2182C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;KIAA1217,missense_variant,p.R491C,ENST00000396445,,c.1471C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;KIAA1217,missense_variant,p.R491C,ENST00000307544,NM_001282769.1,c.1471C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;KIAA1217,missense_variant,p.R773C,ENST00000376456,,c.2317C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;KIAA1217,missense_variant,p.R491C,ENST00000396446,NM_001282770.1,c.1471C>T,MODERATE,,deleterious(0),probably_damaging(0.996),1;KIAA1217,missense_variant,p.R623C,ENST00000438429,,c.1867C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1	T	ENST00000376454	Transcript	missense_variant	missense_variant	2452/7381	2422/5832	808/1943	R/C	Cgc/Tgc	rs751142962	1		1	KIAA1217	HGNC	HGNC:25428	protein_coding	YES	CCDS31165.1	ENSP00000365637	Q5T5P2		UPI000013EC2A	NM_019590.4	deleterious(0)	probably_damaging(0.999)	12/21																			MODERATE	1	SNV	1			1	8.236e-05	8.275e-05	0	0	0.000698	0	3.013e-05	0	0.0001211		PASS	GTGTGCGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	24521895	24521895	C	T	1	0	0	0	0	1	0	0	0	8109	768	27	2		2	KIAA1217	10	24521895	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		24521895	109275527	231	1404											
KIAA1462	57608	BI	GRCh38	chr10	30029627	30029627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttggcaggacctgacattCgcaattcttcttcccaaact	6	13	2	1	rs772929418		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.521G>A	p.Arg174Gln	p.R174Q	ENST00000375377	3/4	158	143	15	180			KIAA1462,missense_variant,p.R174Q,ENST00000375377,NM_020848.2,c.521G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.973),-1	T	ENST00000375377	Transcript	missense_variant	missense_variant	623/9265	521/4080	174/1359	R/Q	cGa/cAa	rs772929418	1		-1	KIAA1462	HGNC	HGNC:29283	protein_coding	YES	CCDS41500.1	ENSP00000364526	Q9P266		UPI00001D8117	NM_020848.2	deleterious(0.02)	probably_damaging(0.973)	3/4																			MODERATE	1	SNV	5			1	8.26e-06	8.281e-06	0.000102	0	0	0	0	0	0		PASS	ACATTCGCAAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3437171	True	Unknown	T	3	4	80	30029627	30029627	C	T	1	0	0	0	0	1	0	0	0	8116	884	31	2		2	KIAA1462	10	30029627	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5507732	30029627	103767795	232	1405											
PARD3	56288	BI	GRCh38	chr10	34359197	34359197	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataagctggatcattcctcGtttattgccttcagtagaca	7	9	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2017C>T	p.Arg673Ter	p.R673*	ENST00000374789	14/25	111	77	34	154			PARD3,stop_gained,p.R673*,ENST00000374789,NM_019619.3,c.2017C>T,HIGH,YES,,,-1;PARD3,stop_gained,p.R673*,ENST00000374788,NM_001184785.1,c.2017C>T,HIGH,,,,-1;PARD3,stop_gained,p.R660*,ENST00000545693,NM_001184786.1,c.1978C>T,HIGH,,,,-1;PARD3,stop_gained,p.R673*,ENST00000346874,NM_001184787.1,c.2017C>T,HIGH,,,,-1;PARD3,stop_gained,p.R660*,ENST00000350537,NM_001184788.1&NM_001184789.1,c.1978C>T,HIGH,,,,-1;PARD3,stop_gained,p.R616*,ENST00000374790,,c.1846C>T,HIGH,,,,-1;PARD3,stop_gained,p.R616*,ENST00000545260,NM_001184790.1,c.1846C>T,HIGH,,,,-1;PARD3,stop_gained,p.R616*,ENST00000374794,NM_001184791.1,c.1846C>T,HIGH,,,,-1;PARD3,stop_gained,p.R673*,ENST00000340077,NM_001184792.1,c.2017C>T,HIGH,,,,-1;PARD3,stop_gained,p.R673*,ENST00000374773,NM_001184793.1,c.2017C>T,HIGH,,,,-1;PARD3,stop_gained,p.R660*,ENST00000374776,NM_001184794.1,c.1978C>T,HIGH,,,,-1;PARD3,stop_gained,p.R390*,ENST00000544292,,c.1168C>T,HIGH,,,,-1;PARD3,stop_gained,p.R111*,ENST00000374768,,c.331C>T,HIGH,,,,-1	A	ENST00000374789	Transcript	stop_gained	stop_gained	2343/6005	2017/4071	673/1356	R/*	Cga/Tga		1		-1	PARD3	HGNC	HGNC:16051	protein_coding	YES	CCDS7178.1	ENSP00000363921	Q8TEW0		UPI0000073A9F	NM_019619.3			14/25		SMART_domains:SM00228;Superfamily_domains:SSF50156																	HIGH	1	SNV	1			1											PASS	TCCTCGTTTAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	34359197	34359197	G	A	1	0	0	0	0	0	1	0	0	11523	1153	40	1		1	PARD3	10	34359197	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4329570	34359197	99438225	233	1406											
RET	5979	BI	GRCh38	chr10	43102534	43102534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccctccttccgcattcGggagaaccgacccccaggca	10	17	0	1	rs759229505	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.530G>A	p.Arg177Gln	p.R177Q	ENST00000355710	3/20	34	30	4	39			RET,missense_variant,p.R177Q,ENST00000355710,NM_020975.4,c.530G>A,MODERATE,YES,tolerated(0.2),possibly_damaging(0.856),1;RET,missense_variant,p.R177Q,ENST00000615310,,c.530G>A,MODERATE,,tolerated(0.07),probably_damaging(0.938),1;RET,missense_variant,p.R177Q,ENST00000340058,NM_020630.4,c.530G>A,MODERATE,,tolerated(0.21),possibly_damaging(0.807),1;RET,intron_variant,,ENST00000498820,,c.74-9565G>A,MODIFIER,,,,1;RET,upstream_gene_variant,,ENST00000479913,,,MODIFIER,,,,1	A	ENST00000355710	Transcript	missense_variant	missense_variant	762/5659	530/3345	177/1114	R/Q	cGg/cAg	rs759229505	1		1	RET	HGNC	HGNC:9967	protein_coding	YES	CCDS7200.1	ENSP00000347942	P07949	A0A024R7T2	UPI00001336E1	NM_020975.4	tolerated(0.2)	possibly_damaging(0.856)	3/20		Pfam_domain:PF00028;PROSITE_profiles:PS50268;Superfamily_domains:SSF49313;PIRSF_domain:PIRSF000631																	MODERATE	1	SNV	5			1	5.765e-05	5.772e-05	0	8.649e-05	0	0	9e-05	0	0		panel_of_normals	CATTCGGGAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM5359844;COSM5359845	True	Unknown	A	3	1	80	43102534	43102534	G	A	1	0	0	0	0	1	0	0	0	13406	1116	39	2		2	RET	10	43102534	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8743337	43102534	90694888	234	1407											
CCAR1	55749	BI	GRCh38	chr10	68756277	68756277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcccttgcaacaggtacCgttttgcagagattcgctac	8	12	1	1	rs765558321		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1630C>T	p.Arg544Cys	p.R544C	ENST00000265872	14/25	33	30	3	57			CCAR1,missense_variant,p.R544C,ENST00000265872,NM_018237.3,c.1630C>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;CCAR1,missense_variant,p.R529C,ENST00000543719,NM_001282960.1&NM_001282959.1,c.1585C>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;CCAR1,missense_variant,p.R529C,ENST00000539539,,c.1585C>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;CCAR1,missense_variant,p.R349C,ENST00000536012,,c.1045C>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;CCAR1,missense_variant,p.R518C,ENST00000543225,,c.1552C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;CCAR1,intron_variant,,ENST00000630771,,c.1625+741C>T,MODIFIER,,,,1;CCAR1,upstream_gene_variant,,ENST00000543706,,,MODIFIER,,,,1;MIR1254-1,upstream_gene_variant,,ENST00000408257,,,MODIFIER,YES,,,1;CCAR1,non_coding_transcript_exon_variant,,ENST00000483264,,n.276C>T,MODIFIER,,,,1;CCAR1,3_prime_UTR_variant,,ENST00000543229,,c.*1245C>T,MODIFIER,,,,1;CCAR1,intron_variant,,ENST00000540210,,c.1625+741C>T,MODIFIER,,,,1;CCAR1,intron_variant,,ENST00000541012,,c.1625+741C>T,MODIFIER,,,,1;CCAR1,intron_variant,,ENST00000479143,,c.62-249C>T,MODIFIER,,,,1;CCAR1,upstream_gene_variant,,ENST00000539250,,,MODIFIER,,,,1	T	ENST00000265872	Transcript	missense_variant	missense_variant	1749/4683	1630/3453	544/1150	R/C	Cgt/Tgt	rs765558321	1		1	CCAR1	HGNC	HGNC:24236	protein_coding	YES	CCDS7282.1	ENSP00000265872	Q8IX12			NM_018237.3	deleterious(0)	probably_damaging(0.993)	14/25																			MODERATE	1	SNV	1			1	8.236e-06	8.245e-06	0	0	0	0.0001513	0	0	0		PASS	GGTACCGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	68756277	68756277	C	T	1	0	0	0	0	1	0	0	0	2431	666	23	2		2	CCAR1	10	68756277	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	25653743	68756277	65041145	235	1408											
ZNF503	84858	BI	GRCh38	chr10	75398847	75398847	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcaccggcacgggggCgccaggcgtgggaagcgggc	23	12	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1843G>A	p.Ala615Thr	p.A615T	ENST00000372524	2/2	12	8	4	9			ZNF503,missense_variant,p.A615T,ENST00000372524,NM_032772.4,c.1843G>A,MODERATE,YES,tolerated(0.06),benign(0.011),-1;ZNF503,missense_variant,p.A252T,ENST00000535216,,c.754G>A,MODERATE,,deleterious(0.03),probably_damaging(0.914),-1;RP11-399K21.11,intron_variant,,ENST00000418818,,n.142+2258G>A,MODIFIER,YES,,,-1;ZNF503-AS2,upstream_gene_variant,,ENST00000425916,,,MODIFIER,YES,,,1;ZNF503-AS2,upstream_gene_variant,,ENST00000466942,,,MODIFIER,,,,1;ZNF503-AS2,upstream_gene_variant,,ENST00000491557,,,MODIFIER,,,,1;ZNF503-AS2,upstream_gene_variant,,ENST00000486015,,,MODIFIER,,,,1	T	ENST00000372524	Transcript	missense_variant	missense_variant	2330/3347	1843/1941	615/646	A/T	Gcc/Acc		1		-1	ZNF503	HGNC	HGNC:23589	protein_coding	YES	CCDS7350.1	ENSP00000361602	Q96F45		UPI000004A951	NM_032772.4	tolerated(0.06)	benign(0.011)	2/2		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	GGGGGCGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	75398847	75398847	C	T	1	0	0	0	0	1	0	0	0	18523	768	27	2		2	ZNF503	10	75398847	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6642570	75398847	58398575	236	1409											
KCNMA1	3778	BI	GRCh38	chr10	76891570	76891570	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagagctaactgggccacGcggcagcggtccctattggc	14	13	0	1	rs372103668	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3297C>T	p.=	p.R1099R	ENST00000286628	26/28	29	17	12	25			KCNMA1,synonymous_variant,p.R906R,ENST00000604624,,c.2718C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1041R,ENST00000286627,NM_002247.3,c.3123C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1099R,ENST00000286628,NM_001161352.1,c.3297C>T,LOW,YES,,,-1;KCNMA1,synonymous_variant,p.R934R,ENST00000354353,,c.2802C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R903R,ENST00000406533,NM_001271519.1,c.2709C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1068R,ENST00000372443,,c.3204C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1041R,ENST00000372440,NM_001014797.2,c.3123C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1099R,ENST00000404771,,c.3297C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1073R,ENST00000457953,,c.3219C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1082R,ENST00000626620,NM_001161353.1,c.3246C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1034R,ENST00000372437,,c.3102C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R1015R,ENST00000372421,,c.3043C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R978R,ENST00000372408,,c.2934C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R992R,ENST00000372403,,c.2975C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R877R,ENST00000404857,NM_001271518.1,c.2631C>T,LOW,,,,-1;KCNMA1,synonymous_variant,p.R749R,ENST00000434208,,c.2245C>T,LOW,,,,-1;KCNMA1-AS1,non_coding_transcript_exon_variant,,ENST00000609102,,n.386G>A,MODIFIER,,,,1;KCNMA1-AS1,intron_variant,,ENST00000429850,,n.238+3289G>A,MODIFIER,YES,,,1;KCNMA1-AS1,intron_variant,,ENST00000426234,,n.69+3289G>A,MODIFIER,,,,1;KCNMA1-AS1,intron_variant,,ENST00000458661,,n.206+3289G>A,MODIFIER,,,,1;KCNMA1-AS1,intron_variant,,ENST00000595702,,n.455+1802G>A,MODIFIER,,,,1;KCNMA1,upstream_gene_variant,,ENST00000468471,,,MODIFIER,,,,-1	A	ENST00000286628	Transcript	synonymous_variant	synonymous_variant	3297/6100	3297/3711	1099/1236	R	cgC/cgT	rs372103668	1		-1	KCNMA1	HGNC	HGNC:6284	protein_coding	YES	CCDS60569.1	ENSP00000286628	Q12791		UPI00003519E7	NM_001161352.1			26/28										0	1e-04								LOW	1	SNV	1			1	1.647e-05	1.671e-05	0	0	0	0	1.517e-05	0	6.095e-05		PASS	GCCACGCGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	76891570	76891570	G	A	1	0	0	0	0	0	0	0	1	7990	1074	38	2		2	KCNMA1	10	76891570	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1492723	76891570	56905852	237	1410											
GRID1	2894	BI	GRCh38	chr10	85619935	85619936	+	Frame_Shift_Ins	INS	-	-	A													cgtaacccttgctgctgatgINSctgttgccgatgacagtcac					novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2291_2292insT	p.Ile765HisfsTer48	p.I765Hfs*48	ENST00000327946	14/16	44	40	4	38			GRID1,frameshift_variant,p.I765Hfs*48,ENST00000327946,NM_017551.2,c.2291_2292insT,HIGH,YES,,,-1;GRID1,frameshift_variant,p.I505Hfs*48,ENST00000536331,,c.1511_1512insT,HIGH,,,,-1;GRID1,intron_variant,,ENST00000464741,,c.2194-6289_2194-6288insT,MODIFIER,,,,-1	A	ENST00000327946	Transcript	frameshift_variant	frameshift_variant	2377-2378/5834	2291-2292/3030	764/1009	S/SX	agc/agTc		1		-1	GRID1	HGNC	HGNC:4575	protein_coding	YES	CCDS31236.1	ENSP00000330148	Q9ULK0			NM_017551.2			14/16		Pfam_domain:PF00060;Pfam_domain:PF00497;SMART_domains:SM00079;Superfamily_domains:SSF53850																	HIGH	1	insertion	2			1											PASS	CTGATGCTGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			False	Unknown	A	7	5	80	85619935	85619935	-	A	1	0	1	1	0	0	0	0	0	6651	1310	46	0		0	GRID1	10	85619935	Frame_Shift_Ins	INS	-	TCGA-YZ-A985-01A-11D-A39W-08	8728365	85619935	48177487	238	1411											
MYOF	26509	BI	GRCh38	chr10	93359880	93359880	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatctttcttgcgttttcGgaccagccttcgccgtctat	7	12	3	0	rs775643885		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3073C>T	p.Arg1025Ter	p.R1025*	ENST00000359263	29/54	98	77	21	115			MYOF,stop_gained,p.R1025*,ENST00000359263,NM_013451.3,c.3073C>T,HIGH,YES,,,-1;MYOF,stop_gained,p.R1012*,ENST00000358334,NM_133337.2,c.3034C>T,HIGH,,,,-1;MYOF,stop_gained,p.R400*,ENST00000463743,,c.1197C>T,HIGH,,,,-1	A	ENST00000359263	Transcript	stop_gained	stop_gained	3073/6719	3073/6186	1025/2061	R/*	Cga/Tga	rs775643885	1		-1	MYOF	HGNC	HGNC:3656	protein_coding	YES	CCDS41551.1	ENSP00000352208	Q9NZM1		UPI000012FBA1	NM_013451.3			29/54		Low_complexity_(Seg):Seg;SMART_domains:SM00694																	HIGH	1	SNV	1			1	8.272e-06	8.28e-06	0	0	0	0	1.498e-05	0	0		PASS	TTTTCGGACCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	93359880	93359880	G	A	1	0	0	0	0	0	1	0	0	10090	1124	39	2		2	MYOF	10	93359880	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7739945	93359880	40437542	239	1412											
PI4K2A	55361	BI	GRCh38	chr10	97656397	97656397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggacagcggtttaaccGcatcgggctaccaccaaagg	12	11	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.749G>A	p.Arg250His	p.R250H	ENST00000370631	3/9	41	30	11	62			PI4K2A,missense_variant,p.R250H,ENST00000370631,NM_018425.2,c.749G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.989),1;RP11-548K23.11,missense_variant,p.R220H,ENST00000370649,,c.659G>A,MODERATE,YES,deleterious_low_confidence(0.03),possibly_damaging(0.817),1	A	ENST00000370631	Transcript	missense_variant	missense_variant	806/4189	749/1440	250/479	R/H	cGc/cAc		1		1	PI4K2A	HGNC	HGNC:30031	protein_coding	YES	CCDS7469.1	ENSP00000359665	Q9BTU6		UPI0000071D95	NM_018425.2	deleterious(0.01)	probably_damaging(0.989)	3/9		Pfam_domain:PF00454																	MODERATE	1	SNV	1			1											PASS	TAACCGCATCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	97656397	97656397	G	A	1	0	0	0	0	1	0	0	0	11960	1087	38	2		2	PI4K2A	10	97656397	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4296517	97656397	36141025	240	1413											
SLC25A28	81894	BI	GRCh38	chr10	99611134	99611134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagctacagctcctgcGcaagctccagagaggacgtg	14	13	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.810C>T	p.=	p.C270C	ENST00000370495	4/4	58	47	11	53			SLC25A28,synonymous_variant,p.C270C,ENST00000370495,NM_031212.3,c.810C>T,LOW,YES,,,-1;SLC25A28,synonymous_variant,p.C131C,ENST00000434701,,c.393C>T,LOW,,,,-1;SLC25A28,non_coding_transcript_exon_variant,,ENST00000496035,,n.596C>T,MODIFIER,,,,-1;SLC25A28,downstream_gene_variant,,ENST00000479722,,,MODIFIER,,,,-1	A	ENST00000370495	Transcript	synonymous_variant	synonymous_variant	839/1451	810/1095	270/364	C	tgC/tgT		1		-1	SLC25A28	HGNC	HGNC:23472	protein_coding	YES	CCDS41559.1	ENSP00000359526	Q96A46			NM_031212.3			4/4		Low_complexity_(Seg):Seg;Pfam_domain:PF00153;PROSITE_profiles:PS50920;Superfamily_domains:SSF103506																	LOW	1	SNV	1			1											PASS	CCTGCGCAAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	99611134	99611134	G	A	1	0	0	0	0	0	0	0	1	14756	1079	38	2		2	SLC25A28	10	99611134	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1954737	99611134	34186288	241	1414											
CYP17A1	1586	BI	GRCh38	chr10	102832610	102832610	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaggaggagacggttaCggtcactgatagttggtgtg	16	7	1	2	rs61754278	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1040G>A	p.Arg347His	p.R347H	ENST00000369887	6/8	86	62	24	92			CYP17A1,missense_variant,p.R347H,ENST00000369887,NM_000102.3,c.1040G>A,MODERATE,YES,deleterious(0),probably_damaging(0.976),-1;CYP17A1-AS1,upstream_gene_variant,,ENST00000369884,,,MODIFIER,YES,,,1;CYP17A1,downstream_gene_variant,,ENST00000489268,,,MODIFIER,,,,-1;CYP17A1,upstream_gene_variant,,ENST00000469683,,,MODIFIER,,,,-1	T	ENST00000369887	Transcript	missense_variant	missense_variant	1212/1870	1040/1527	347/508	R/H	cGt/cAt	rs61754278	1		-1	CYP17A1	HGNC	HGNC:2593	protein_coding	YES	CCDS7541.1	ENSP00000358903	P05093	Q1HB44	UPI0000128309	NM_000102.3	deleterious(0)	probably_damaging(0.976)	6/8		Pfam_domain:PF00067;Superfamily_domains:SSF48264										pathogenic							MODERATE	1	SNV	1		1	1	1.647e-05	1.651e-05	0	0	0	0	1.502e-05	0	6.069e-05		PASS	GGTTACGGTCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	102832610	102832610	C	T	1	0	0	0	0	1	0	0	0	3950	536	19	1		1	CYP17A1	10	102832610	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3221476	102832610	30964812	242	1415											
CFAP43	80217	BI	GRCh38	chr10	104212155	104212155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttctagaggtaatttcaccGacctgtagacaaaagaggca	9	9	2	3	rs371285570	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.587C>T	p.Ser196Leu	p.S196L	ENST00000357060	5/38	56	44	12	48			CFAP43,missense_variant,p.S196L,ENST00000357060,NM_025145.5,c.587C>T,MODERATE,YES,tolerated(0.2),benign(0.003),-1;CFAP43,missense_variant,p.S126L,ENST00000278064,,c.377C>T,MODERATE,,tolerated(0.21),benign(0.008),-1;CFAP43,missense_variant,p.S126L,ENST00000369720,,c.377C>T,MODERATE,,tolerated(0.43),benign(0.003),-1;CFAP43,missense_variant,p.S126L,ENST00000369719,,c.377C>T,MODERATE,,tolerated(0.13),benign(0.005),-1	A	ENST00000357060	Transcript	missense_variant	missense_variant;splice_region_variant	703/5365	587/4998	196/1665	S/L	tCg/tTg	rs371285570	1		-1	CFAP43	HGNC	HGNC:26684	protein_coding	YES	CCDS31281.1	ENSP00000349568	Q8NDM7		UPI0000D60FC7	NM_025145.5	tolerated(0.2)	benign(0.003)	5/38		Superfamily_domains:SSF50978;Superfamily_domains:SSF50969								0	2e-04								MODERATE	1	SNV	1			1	9.884e-05	0.0001002	9.626e-05	0	0	0	4.532e-05	0	0.0005169		PASS	TCACCGACCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	104212155	104212155	G	A	1	0	0	0	0	1	0	0	0	3018	1072	37	2		2	CFAP43	10	104212155	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1379545	104212155	29585267	243	1416											
VWA2	340706	BI	GRCh38	chr10	114289066	114289066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtttgaggtgaaccctgacGtgacacaggtcggcctggtg	15	9	0	4	rs768137633	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1699G>A	p.Val567Met	p.V567M	ENST00000392982	12/14	32	17	15	33			VWA2,missense_variant,p.V567M,ENST00000392982,NM_001272046.1,c.1699G>A,MODERATE,YES,deleterious(0.02),possibly_damaging(0.826),1;VWA2,missense_variant,p.V263M,ENST00000603594,,c.787G>A,MODERATE,,deleterious(0.02),benign(0.145),1;VWA2,non_coding_transcript_exon_variant,,ENST00000298715,,n.1949G>A,MODIFIER,,,,1	A	ENST00000392982	Transcript	missense_variant	missense_variant	1949/2794	1699/2268	567/755	V/M	Gtg/Atg	rs768137633	1		1	VWA2	HGNC	HGNC:24709	protein_coding	YES	CCDS7589.2	ENSP00000376708	Q5GFL6		UPI00004C7AA3	NM_001272046.1	deleterious(0.02)	possibly_damaging(0.826)	12/14		Pfam_domain:PF00092;PROSITE_profiles:PS50234;SMART_domains:SM00327;Superfamily_domains:SSF53300																	MODERATE	1	SNV	1			1	3.295e-05	3.301e-05	0	8.655e-05	0.0001157	0	0	0	0.0001212		PASS	CTGACGTGACA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2054031;COSM4173962	True	Unknown	A	3	1	80	114289066	114289066	G	A	1	0	0	0	0	1	0	0	0	17793	1145	40	1		1	VWA2	10	114289066	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	10076911	114289066	19508356	244	1417											
BAG3	9531	BI	GRCh38	chr10	119669901	119669901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggagggctctaggctgccGcctgctagggaaggccaccc	16	14	1	0	rs143752613	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.231G>A	p.=	p.P77P	ENST00000369085	2/4	81	61	20	88			BAG3,synonymous_variant,p.P77P,ENST00000369085,NM_004281.3,c.231G>A,LOW,YES,,,1;BAG3,synonymous_variant,p.P19P,ENST00000450186,,c.57G>A,LOW,,,,1	A	ENST00000369085	Transcript	synonymous_variant	synonymous_variant	537/2571	231/1728	77/575	P	ccG/ccA	rs143752613	1		1	BAG3	HGNC	HGNC:939	protein_coding	YES	CCDS7615.1	ENSP00000358081	O95817		UPI0000000C7A	NM_004281.3			2/4			0.006	0.0219	0		0.001	0	0	0.0134	0	benign							LOW	1	SNV	1		1	1	0.001425	0.001425	0.01538	0.0007775	0.0001156	0	2.998e-05	0	6.056e-05		panel_of_normals	CTGCCGCCTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	119669901	119669901	G	A	1	0	0	0	0	0	0	0	1	1446	1074	38	2		2	BAG3	10	119669901	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5380835	119669901	14127521	245	1418											
INPP5F	22876	BI	GRCh38	chr10	119792015	119792015	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcactggggagagggaCggtcggcccctctggcagaa	17	11	1	3	rs375176930	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.591C>T	p.=	p.D197D	ENST00000361976	5/20	96	62	34	104			INPP5F,synonymous_variant,p.D197D,ENST00000361976,NM_014937.3,c.591C>T,LOW,YES,,,1;INPP5F,synonymous_variant,p.D101D,ENST00000369081,,c.303C>T,LOW,,,,1	T	ENST00000361976	Transcript	synonymous_variant	synonymous_variant	757/5063	591/3399	197/1132	D	gaC/gaT	rs375176930	1		1	INPP5F	HGNC	HGNC:17054	protein_coding	YES	CCDS7616.1	ENSP00000354519	Q9Y2H2		UPI000006FBCA	NM_014937.3			5/20		Pfam_domain:PF02383;PROSITE_profiles:PS50275								0	1e-04								LOW	1	SNV	1			1	3.295e-05	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05		PASS	AGGGACGGTCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	119792015	119792015	C	T	1	0	0	0	0	0	0	0	1	7661	535	19	1		1	INPP5F	10	119792015	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	122114	119792015	14005407	246	1419											
CHST15	51363	BI	GRCh38	chr10	124045838	124045838	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgtcacttgggttttcGctgtccatcaagctggggtt	12	8	2	0	rs756633296	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.375C>T	p.=	p.S125S	ENST00000346248	2/8	119	110	9	176			CHST15,synonymous_variant,p.S125S,ENST00000435907,NM_001270764.1,c.375C>T,LOW,YES,,,-1;CHST15,synonymous_variant,p.S125S,ENST00000346248,NM_015892.4,c.375C>T,LOW,,,,-1;CHST15,synonymous_variant,p.S125S,ENST00000628426,NM_014863.3&NM_001270765.1,c.375C>T,LOW,,,,-1;CHST15,downstream_gene_variant,,ENST00000462406,,,MODIFIER,,,,-1	A	ENST00000346248	Transcript	synonymous_variant	synonymous_variant	1018/4810	375/1686	125/561	S	agC/agT	rs756633296	1		-1	CHST15	HGNC	HGNC:18137	protein_coding		CCDS7638.1	ENSP00000333947	Q7LFX5		UPI000004D06B	NM_015892.4			2/8																			LOW		SNV	1			1	2.471e-05	2.472e-05	0	0	0	0	2.997e-05	0	6.057e-05		PASS	TTTTCGCTGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	124045838	124045838	G	A	1	0	0	0	0	0	0	0	1	3163	1078	38	2		2	CHST15	10	124045838	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4253823	124045838	9751584	247	1420											
DPYSL4	10570	BI	GRCh38	chr10	132194885	132194885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgggtgtgagcctgctggcGgcctacgagcagtggcggga	19	10	0	1	rs138714632	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.354G>A	p.=	p.A118A	ENST00000338492	4/14	57	36	21	70			DPYSL4,synonymous_variant,p.A118A,ENST00000338492,NM_006426.2,c.354G>A,LOW,YES,,,1;DPYSL4,synonymous_variant,p.A41A,ENST00000368627,,c.123G>A,LOW,,,,1;DPYSL4,non_coding_transcript_exon_variant,,ENST00000493882,,n.511G>A,MODIFIER,,,,1;DPYSL4,downstream_gene_variant,,ENST00000493927,,,MODIFIER,,,,1	A	ENST00000338492	Transcript	synonymous_variant	synonymous_variant	518/2729	354/1719	118/572	A	gcG/gcA	rs138714632	1		1	DPYSL4	HGNC	HGNC:3016	protein_coding	YES	CCDS7665.1	ENSP00000339850	O14531		UPI000013DC70	NM_006426.2			4/14		Pfam_domain:PF01979;TIGRFAM_domain:TIGR02033;Superfamily_domains:SSF51556	6e-04	0	0		0.002	0.001	0										LOW	1	SNV	1			1	0.0004944	0.0005038	0	0	0.00455	0	0.0002924	0.001136	6.075e-05		panel_of_normals	CTGGCGGCCTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	132194885	132194885	G	A	1	0	0	0	0	0	0	0	1	4564	1103	39	2		2	DPYSL4	10	132194885	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8149047	132194885	1602537	248	1421											
TNNT3	7140	BI	GRCh38	chr11	1929136	1929136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagacaccgcagaggaggaCgcggaaggtaagggcccgtc	17	10	0	2	rs752603163	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.132C>T	p.=	p.D44D	ENST00000397301	8/17	80	63	17	133			TNNT3,synonymous_variant,p.D33D,ENST00000278317,NM_006757.3,c.99C>T,LOW,YES,,,1;TNNT3,synonymous_variant,p.D44D,ENST00000397301,,c.132C>T,LOW,,,,1;TNNT3,intron_variant,,ENST00000381558,NM_001042782.2,c.83-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000381589,NM_001042781.2,c.101-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000381579,NM_001042780.2,c.83-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000381557,,c.65-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000381563,,c.116-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000344578,,c.68-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000446240,,c.50-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000397304,,c.50-674C>T,MODIFIER,,,,1;TNNT3,intron_variant,,ENST00000453458,,c.50-674C>T,MODIFIER,,,,1;TNNT3,non_coding_transcript_exon_variant,,ENST00000492075,,n.316C>T,MODIFIER,,,,1;TNNT3,upstream_gene_variant,,ENST00000493234,,,MODIFIER,,,,1	T	ENST00000397301	Transcript	synonymous_variant	synonymous_variant	140/818	132/810	44/269	D	gaC/gaT	rs752603163	1		1	TNNT3	HGNC	HGNC:11950	protein_coding			ENSP00000380468	P45378		UPI0000ED9058				8/17		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50313																	LOW		SNV	5			1	3.295e-05	3.316e-05	0	0	0.0002318	0	3.026e-05	0	0		PASS	GAGGACGCGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5628877	True	Unknown	T	2	4	80	1929136	1929136	C	T	1	0	0	0	0	0	0	0	1	16805	535	19	1		1	TNNT3	11	1929136	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1929136	133157486	249	1422											
TH	7054	BI	GRCh38	chr11	2164329	2164329	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggggctgtccagcacgtcGatggccagcgtgtacgggtc	17	11	0	0	rs118175546	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1491C>T	p.=	p.I497I	ENST00000381178	14/14	34	19	15	40			TH,synonymous_variant,p.I497I,ENST00000381178,NM_199292.2,c.1491C>T,LOW,YES,,,-1;TH,synonymous_variant,p.I493I,ENST00000381175,NM_199293.2,c.1479C>T,LOW,,,,-1;TH,synonymous_variant,p.I466I,ENST00000352909,NM_000360.3,c.1398C>T,LOW,,,,-1;TH,synonymous_variant,p.I372I,ENST00000333684,,c.1116C>T,LOW,,,,-1;INS-IGF2,upstream_gene_variant,,ENST00000397270,NM_001042376.2,,MODIFIER,YES,,,-1;INS,upstream_gene_variant,,ENST00000397262,NM_001185098.1,,MODIFIER,YES,,,-1;INS,upstream_gene_variant,,ENST00000381330,,,MODIFIER,,,,-1;INS,upstream_gene_variant,,ENST00000250971,NM_001185097.1&NM_000207.2,,MODIFIER,,,,-1;INS,upstream_gene_variant,,ENST00000421783,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000412076,,,MODIFIER,,,,-1;INS,upstream_gene_variant,,ENST00000512523,,,MODIFIER,,,,-1;INS-IGF2,upstream_gene_variant,,ENST00000356578,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000324155,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000381168,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000469226,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000461172,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000479437,,,MODIFIER,,,,-1;TH,downstream_gene_variant,,ENST00000416223,,,MODIFIER,,,,-1	A	ENST00000381178	Transcript	synonymous_variant	synonymous_variant	1510/1910	1491/1587	497/528	I	atC/atT	rs118175546	1		-1	TH	HGNC	HGNC:11782	protein_coding	YES	CCDS7731.1	ENSP00000370571	P07101		UPI00001412DD	NM_199292.2			14/14		Pfam_domain:PF00351;Prints_domain:PR00372;TIGRFAM_domain:TIGR01269;Superfamily_domains:SSF56534;PIRSF_domain:PIRSF000336	4e-04	0	0		0.001	0.001	0	0	7e-04								LOW	1	SNV	1			1	0.0004137	0.0004475	0	8.789e-05	0	0.0003223	0.0007188	0	9.897e-05		panel_of_normals	ACGTCGATGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM3446299	True	Unknown	A	2	1	80	2164329	2164329	G	A	1	0	0	0	0	0	0	0	1	16271	1048	37	2		2	TH	11	2164329	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	235193	2164329	132922293	250	1423											
PPFIBP2	8495	BI	GRCh38	chr11	7630931	7630931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttaatgcttgcagggccttCggagagaactctctcaatca	9	11	3	1	rs201945661	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.971C>T	p.Ser324Leu	p.S324L	ENST00000299492	11/24	81	56	25	110			PPFIBP2,missense_variant,p.S324L,ENST00000299492,NM_003621.3,c.971C>T,MODERATE,YES,deleterious(0.01),benign(0.002),1;PPFIBP2,missense_variant,p.S166L,ENST00000533792,,c.497C>T,MODERATE,,tolerated(0.07),benign(0.002),1;PPFIBP2,missense_variant,p.S181L,ENST00000530181,NM_001256569.1,c.542C>T,MODERATE,,tolerated(0.06),benign(0.002),1;PPFIBP2,missense_variant,p.S212L,ENST00000528883,NM_001256568.1,c.635C>T,MODERATE,,tolerated(0.07),benign(0.001),1;PPFIBP2,missense_variant,p.S4L,ENST00000534409,,c.9C>T,MODERATE,,deleterious(0),benign(0.053),1;PPFIBP2,downstream_gene_variant,,ENST00000529575,,,MODIFIER,,,,1;PPFIBP2,upstream_gene_variant,,ENST00000530081,,,MODIFIER,,,,1;PPFIBP2,intron_variant,,ENST00000532926,,n.1097+20509C>T,MODIFIER,,,,1;PPFIBP2,intron_variant,,ENST00000529021,,n.317-24483C>T,MODIFIER,,,,1;PPFIBP2,upstream_gene_variant,,ENST00000530582,,,MODIFIER,,,,1;PPFIBP2,non_coding_transcript_exon_variant,,ENST00000532416,,n.226C>T,MODIFIER,,,,1;PPFIBP2,upstream_gene_variant,,ENST00000532381,,,MODIFIER,,,,1	T	ENST00000299492	Transcript	missense_variant	missense_variant	1359/3557	971/2631	324/876	S/L	tCg/tTg	rs201945661	1		1	PPFIBP2	HGNC	HGNC:9250	protein_coding	YES	CCDS31419.1	ENSP00000299492	Q8ND30		UPI00001C1EF8	NM_003621.3	deleterious(0.01)	benign(0.002)	11/24			2e-04	0	0		0.001	0	0										MODERATE	1	SNV	1			1	8.236e-05	8.255e-05	0	0	0.001046	0	1.501e-05	0	0		PASS	GCCTTCGGAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	7630931	7630931	C	T	1	0	0	0	0	1	0	0	0	12423	893	31	2		2	PPFIBP2	11	7630931	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5466602	7630931	127455691	251	1424											
KCNC1	3746	BI	GRCh38	chr11	17771844	17771844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttacctacatcgagggCgtctgtgtggtctggttcac	11	11	3	0	rs147271572	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.750C>T	p.=	p.G250G	ENST00000379472	2/2	94	61	33	144			KCNC1,synonymous_variant,p.G250G,ENST00000379472,NM_004976.4,c.750C>T,LOW,,,,1;KCNC1,synonymous_variant,p.G250G,ENST00000265969,NM_001112741.1,c.750C>T,LOW,YES,,,1;KCNC1,upstream_gene_variant,,ENST00000525802,,,MODIFIER,,,,1	T	ENST00000379472	Transcript	synonymous_variant	synonymous_variant	780/6766	750/1536	250/511	G	ggC/ggT	rs147271572	1		1	KCNC1	HGNC	HGNC:6233	protein_coding		CCDS7827.1	ENSP00000368785	P48547			NM_004976.4			2/2		Pfam_domain:PF00520;Transmembrane_helices:Tmhmm;Prints_domain:PR00169;Superfamily_domains:SSF81324	6e-04	0	0		0.003	0	0										LOW		SNV	1			1	0.0001977	0.0001977	0	0	0.002773	0	0	0	0		PASS	GAGGGCGTCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM4031865;COSM4031866	True	Unknown	T	2	4	80	17771844	17771844	C	T	1	0	0	0	0	0	0	0	1	7930	755	27	2		2	KCNC1	11	17771844	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10140913	17771844	117314778	252	1425											
MRGPRX2	117194	BI	GRCh38	chr11	19056304	19056304	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaaggatcaggaagacCgggatcagggtctccttgcc	13	9	3	2	rs771220636	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.99G>A	p.=	p.P33P	ENST00000329773	2/2	123	102	21	119			MRGPRX2,synonymous_variant,p.P33P,ENST00000329773,NM_054030.2,c.99G>A,LOW,YES,,,-1	T	ENST00000329773	Transcript	synonymous_variant	synonymous_variant	187/2036	99/993	33/330	P	ccG/ccA	rs771220636	1		-1	MRGPRX2	HGNC	HGNC:17983	protein_coding	YES	CCDS7847.1	ENSP00000333800	Q96LB1		UPI0000038C81	NM_054030.2			2/2		Prints_domain:PR00237;Superfamily_domains:SSF81321																	LOW	1	SNV	1			1	8.236e-06	8.259e-06	0	0	0	0	0	0	6.057e-05		panel_of_normals	AAGACCGGGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	19056304	19056304	C	T	1	0	0	0	0	0	0	0	1	9734	639	23	2		2	MRGPRX2	11	19056304	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1284460	19056304	116030318	253	1426											
SLC6A5	9152	BI	GRCh38	chr11	20654742	20654742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctcgccacagccGgactggggcccattcttagc	13	13	1	0	rs373204248	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2268G>A	p.=	p.P756P	ENST00000525748	16/16	55	28	27	70			SLC6A5,synonymous_variant,p.P756P,ENST00000525748,NM_004211.3,c.2268G>A,LOW,YES,,,1;SLC6A5,non_coding_transcript_exon_variant,,ENST00000528440,,n.799G>A,MODIFIER,,,,1;SLC6A5,3_prime_UTR_variant,,ENST00000298923,,c.*1565G>A,MODIFIER,,,,1	A	ENST00000525748	Transcript	synonymous_variant	synonymous_variant	2541/7084	2268/2394	756/797	P	ccG/ccA	rs373204248	1		1	SLC6A5	HGNC	HGNC:11051	protein_coding	YES	CCDS7854.1	ENSP00000434364	Q9Y345		UPI00004564A5	NM_004211.3			16/16			4e-04	8e-04	0		0.001	0	0	2e-04	0								LOW	1	SNV	1			1	3.295e-05	3.295e-05	0.0001922	0	0.0001156	0	1.498e-05	0	0		PASS	CAGCCGGACTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	20654742	20654742	G	A	1	0	0	0	0	0	0	0	1	14970	1103	39	2		2	SLC6A5	11	20654742	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1598438	20654742	114431880	254	1427											
BBOX1	8424	BI	GRCh38	chr11	27127319	27127319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattacttttgataactggCgcttacttcatggccgacgt	9	9	1	2	rs764375198		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1030C>T	p.Arg344Cys	p.R344C	ENST00000263182	9/9	69	52	17	80			BBOX1,missense_variant,p.R344C,ENST00000263182,NM_003986.2,c.1030C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;BBOX1,missense_variant,p.R344C,ENST00000529202,,c.1030C>T,MODERATE,,deleterious(0),probably_damaging(1),1;BBOX1,missense_variant,p.R344C,ENST00000528583,,c.1030C>T,MODERATE,,deleterious(0),probably_damaging(1),1;BBOX1,missense_variant,p.R344C,ENST00000525090,,c.1030C>T,MODERATE,,deleterious(0),probably_damaging(1),1;BBOX1-AS1,intron_variant,,ENST00000530430,,n.667+23731G>A,MODIFIER,YES,,,-1;BBOX1-AS1,intron_variant,,ENST00000525302,,n.334+23731G>A,MODIFIER,,,,-1;BBOX1-AS1,intron_variant,,ENST00000526061,,n.344+23731G>A,MODIFIER,,,,-1	T	ENST00000263182	Transcript	missense_variant	missense_variant	1398/1886	1030/1164	344/387	R/C	Cgc/Tgc	rs764375198	1		1	BBOX1	HGNC	HGNC:964	protein_coding	YES	CCDS7862.1	ENSP00000263182	O75936		UPI0000126A4C	NM_003986.2	deleterious(0)	probably_damaging(1)	9/9		TIGRFAM_domain:TIGR02409;Pfam_domain:PF02668;Superfamily_domains:SSF51197																	MODERATE		SNV	5			1	8.236e-06	8.242e-06	0	0	0	0	1.499e-05	0	0		PASS	ACTGGCGCTTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3687244	True	Unknown	T	3	4	80	27127319	27127319	C	T	1	0	0	0	0	1	0	0	0	1481	768	27	2		2	BBOX1	11	27127319	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6472577	27127319	107959303	255	1428											
DCDC1	341019	BI	GRCh38	chr11	30916914	30916914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaaagagccctttttcCgttttctttggaagactgtc	7	9	2	2	rs755765472	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.729G>A	p.=	p.T243T	ENST00000406071	7/20	32	24	8	50			DCDC1,synonymous_variant,p.T1136T,ENST00000597505,,c.3408G>A,LOW,,,,-1;DCDC1,synonymous_variant,p.T243T,ENST00000406071,NM_020869.3,c.729G>A,LOW,YES,,,-1;DCDC1,synonymous_variant,p.T171T,ENST00000444572,,c.511G>A,LOW,,,,-1;DCDC1,non_coding_transcript_exon_variant,,ENST00000483396,,n.1043G>A,MODIFIER,,,,-1	T	ENST00000406071	Transcript	synonymous_variant	synonymous_variant	1045/4758	729/2673	243/890	T	acG/acA	rs755765472	1		-1	DCDC1	HGNC	HGNC:20625	protein_coding	YES	CCDS73270.1	ENSP00000385936		B6ZDN3	UPI0001FB41A5	NM_020869.3			7/20																			LOW	1	SNV	5			1	1.647e-05	1.653e-05	0	0	0	0	3.006e-05	0	0		panel_of_normals	TTTTCCGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	30916914	30916914	C	T	1	0	0	0	0	0	0	0	1	4086	639	23	2		2	DCDC1	11	30916914	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3789595	30916914	104169708	256	1429											
CLP1	10978	BI	GRCh38	chr11	57660774	57660774	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcttttgcagattacatctCgtttagcagatgtgttcaac	7	9	3	2	rs777290319	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.616C>T	p.Arg206Cys	p.R206C	ENST00000525602	3/3	74	64	10	73			CLP1,missense_variant,p.R206C,ENST00000533682,,c.616C>T,MODERATE,YES,tolerated(0.06),benign(0.021),1;CLP1,missense_variant,p.R217C,ENST00000529430,,c.649C>T,MODERATE,,tolerated(0.06),benign(0.035),1;CLP1,missense_variant,p.R142C,ENST00000302731,NM_001142597.1,c.424C>T,MODERATE,,tolerated(0.08),benign(0.003),1;CLP1,missense_variant,p.R206C,ENST00000525602,NM_006831.2,c.616C>T,MODERATE,,tolerated(0.06),benign(0.021),1;CLP1,downstream_gene_variant,,ENST00000529773,,,MODIFIER,,,,1;CLP1,downstream_gene_variant,,ENST00000533905,,,MODIFIER,,,,1	T	ENST00000525602	Transcript	missense_variant	missense_variant	730/1392	616/1278	206/425	R/C	Cgt/Tgt	rs777290319	1		1	CLP1	HGNC	HGNC:16999	protein_coding		CCDS7964.1	ENSP00000436066	Q92989		UPI000012754A	NM_006831.2	tolerated(0.06)	benign(0.021)	3/3		Pfam_domain:PF03205;Superfamily_domains:SSF52540;Superfamily_domains:SSF52540																	MODERATE		SNV	1			1	1.647e-05	1.77e-05	0	8.693e-05	0	0	0	0	9.379e-05		PASS	CATCTCGTTTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1718427	True	Unknown	T	3	4	80	57660774	57660774	C	T	1	0	0	0	0	1	0	0	0	3320	884	31	2		2	CLP1	11	57660774	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	26743860	57660774	77425848	257	1430											
ZDHHC5	25921	BI	GRCh38	chr11	57699110	57699110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagtcacccccactcccGggccgtgaggaagaaccagg	12	17	1	2	rs200500149	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1674G>A	p.=	p.P558P	ENST00000287169	11/12	82	42	40	112			ZDHHC5,synonymous_variant,p.P558P,ENST00000287169,NM_015457.2,c.1674G>A,LOW,YES,,,1;ZDHHC5,synonymous_variant,p.P505P,ENST00000527985,,c.1515G>A,LOW,,,,1;MED19,downstream_gene_variant,,ENST00000337672,NM_153450.1,,MODIFIER,YES,,,-1;MED19,downstream_gene_variant,,ENST00000431606,,,MODIFIER,,,,-1;ZDHHC5,downstream_gene_variant,,ENST00000529447,,,MODIFIER,,,,1;ZDHHC5,non_coding_transcript_exon_variant,,ENST00000529480,,n.1921G>A,MODIFIER,,,,1	A	ENST00000287169	Transcript	synonymous_variant	synonymous_variant	3036/4666	1674/2148	558/715	P	ccG/ccA	rs200500149	1		1	ZDHHC5	HGNC	HGNC:18472	protein_coding	YES	CCDS7965.1	ENSP00000287169	Q9C0B5	A0A024R546	UPI0000049DA3	NM_015457.2			11/12		Low_complexity_(Seg):Seg	0.0018	0.0015	0		0.003	0	0.0041	2e-04	0								LOW	1	SNV	1			1	0.0004695	0.000472	0.0003866	0	0.00372	0	3.016e-05	0	0.001157		panel_of_normals	CTCCCGGGCCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	57699110	57699110	G	A	1	0	0	0	0	0	0	0	1	18194	1103	39	2		2	ZDHHC5	11	57699110	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	38336	57699110	77387512	258	1431											
MS4A15	219995	BI	GRCh38	chr11	60763748	60763748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacgatgtctgcagctccCgccagcaatggagtgtttgt	12	11	1	0	rs372949576	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.15C>T	p.=	p.P5P	ENST00000405633	2/7	68	45	23	97			MS4A15,synonymous_variant,p.P5P,ENST00000405633,NM_001098835.1,c.15C>T,LOW,YES,,,1;MS4A15,synonymous_variant,p.P5P,ENST00000528170,NM_001278242.1,c.15C>T,LOW,,,,1;MS4A15,intron_variant,,ENST00000337911,NM_152717.2,c.-20-3819C>T,MODIFIER,,,,1;MS4A15,synonymous_variant,p.P5P,ENST00000429322,,c.15C>T,LOW,,,,1	T	ENST00000405633	Transcript	synonymous_variant	synonymous_variant	94/1818	15/723	5/240	P	ccC/ccT	rs372949576	1		1	MS4A15	HGNC	HGNC:28573	protein_coding	YES	CCDS44617.1	ENSP00000386022	Q8N5U1		UPI00001FA81E	NM_001098835.1			2/7										0	1e-04								LOW	1	SNV	1			1	8.267e-06	8.3e-06	0	0	0	0	1.504e-05	0	0		panel_of_normals	GCTCCCGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM3397951	True	Unknown	T	2	4	80	60763748	60763748	C	T	1	0	0	0	0	0	0	0	1	9836	639	23	2		2	MS4A15	11	60763748	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3064638	60763748	74322874	259	1432											
TMEM132A	54972	BI	GRCh38	chr11	60934747	60934747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgggccgggagcccGgtgtcacctccattgaggta	16	11	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1819G>A	p.Gly607Ser	p.G607S	ENST00000453848	9/11	29	24	5	20			TMEM132A,missense_variant,p.G608S,ENST00000005286,NM_017870.3,c.1822G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),1;TMEM132A,missense_variant,p.G607S,ENST00000453848,NM_178031.2,c.1819G>A,MODERATE,,deleterious(0),probably_damaging(0.998),1;TMEM132A,missense_variant,p.G36S,ENST00000540112,,c.105G>A,MODERATE,,deleterious(0),probably_damaging(1),1;SLC15A3,downstream_gene_variant,,ENST00000227880,NM_016582.2,,MODIFIER,YES,,,-1;SLC15A3,downstream_gene_variant,,ENST00000618622,,,MODIFIER,,,,-1;SLC15A3,downstream_gene_variant,,ENST00000621824,,,MODIFIER,,,,-1;TMEM132A,downstream_gene_variant,,ENST00000544065,,,MODIFIER,,,,1;SLC15A3,downstream_gene_variant,,ENST00000537307,,,MODIFIER,,,,-1;TMEM132A,upstream_gene_variant,,ENST00000535480,,,MODIFIER,,,,1;SLC15A3,downstream_gene_variant,,ENST00000536784,,,MODIFIER,,,,-1;TMEM132A,downstream_gene_variant,,ENST00000536409,,,MODIFIER,,,,1;TMEM132A,non_coding_transcript_exon_variant,,ENST00000536928,,n.469G>A,MODIFIER,,,,1;TMEM132A,non_coding_transcript_exon_variant,,ENST00000538090,,n.410G>A,MODIFIER,,,,1;SLC15A3,downstream_gene_variant,,ENST00000543406,,,MODIFIER,,,,-1;TMEM132A,downstream_gene_variant,,ENST00000544098,,,MODIFIER,,,,1;TMEM132A,downstream_gene_variant,,ENST00000534983,,,MODIFIER,,,,1;SLC15A3,downstream_gene_variant,,ENST00000541505,,,MODIFIER,,,,-1;SLC15A3,downstream_gene_variant,,ENST00000544101,,,MODIFIER,,,,-1	A	ENST00000453848	Transcript	missense_variant	missense_variant	1977/3346	1819/3072	607/1023	G/S	Ggt/Agt		1		1	TMEM132A	HGNC	HGNC:31092	protein_coding		CCDS44618.1	ENSP00000405823	Q24JP5		UPI0000190978	NM_178031.2	deleterious(0)	probably_damaging(0.998)	9/11		Low_complexity_(Seg):Seg																	MODERATE		SNV	1			1											PASS	AGCCCGGTGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	60934747	60934747	G	A	1	0	0	0	0	1	0	0	0	16489	1116	39	2		2	TMEM132A	11	60934747	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	170999	60934747	74151875	260	1433											
TKFC	26007	BI	GRCh38	chr11	61339326	61339326	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcccgggagcaggcccGggctgaaggcatcccggtgg	18	14	0	1	rs750037556		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.377G>A	p.Arg126Gln	p.R126Q	ENST00000394900	5/18	112	79	33	94			DAK,missense_variant,p.R126Q,ENST00000394900,NM_015533.3,c.377G>A,MODERATE,YES,tolerated(0.05),benign(0.273),1;DAK,missense_variant,p.R127Q,ENST00000617083,,c.380G>A,MODERATE,,tolerated(0.06),benign(0.02),1;DAK,missense_variant,p.R125Q,ENST00000529479,,c.374G>A,MODERATE,,tolerated(0.06),benign(0.117),1;DAK,missense_variant,p.R126Q,ENST00000532173,,c.377G>A,MODERATE,,tolerated(0.09),benign(0.273),1;DAK,upstream_gene_variant,,ENST00000534084,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000524968,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000530057,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000533393,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000530456,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000525170,,,MODIFIER,,,,1;DAK,downstream_gene_variant,,ENST00000529620,,,MODIFIER,,,,1;DAK,non_coding_transcript_exon_variant,,ENST00000529092,,n.132G>A,MODIFIER,,,,1;DDB1,intron_variant,,ENST00000540166,,c.-166+3042C>T,MODIFIER,,,,-1;DAK,downstream_gene_variant,,ENST00000529121,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000534134,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000524953,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000528061,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000533853,,,MODIFIER,,,,1;DAK,upstream_gene_variant,,ENST00000534370,,,MODIFIER,,,,1	A	ENST00000394900	Transcript	missense_variant	missense_variant	606/4696	377/1728	126/575	R/Q	cGg/cAg	rs750037556	1		1	DAK	HGNC	HGNC:24552	protein_coding	YES	CCDS8003.1	ENSP00000378360	Q3LXA3		UPI00000718B9	NM_015533.3	tolerated(0.05)	benign(0.273)	5/18		Pfam_domain:PF02733;TIGRFAM_domain:TIGR02361;Superfamily_domains:SSF82549																	MODERATE	1	SNV	1			1	8.237e-06	8.356e-06	0	0	0	0	1.528e-05	0	0		PASS	GGCCCGGGCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	61339326	61339326	G	A	1	0	0	0	0	1	0	0	0	16376	1116	39	2		2	TKFC	11	61339326	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	404579	61339326	73747296	261	1434											
CHRM1	1128	BI	GRCh38	chr11	62910764	62910764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagcagcagattcatgaCggaggcattgctggccacat	13	9	1	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.337G>A	p.Val113Ile	p.V113I	ENST00000306960	2/2	18	15	3	26			CHRM1,missense_variant,p.V113I,ENST00000306960,NM_000738.2,c.337G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;CHRM1,missense_variant,p.V113I,ENST00000543973,,c.337G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;CHRM1,missense_variant,p.V113I,ENST00000536524,,c.337G>A,MODERATE,,deleterious(0.03),probably_damaging(0.999),-1;AP000438.2,non_coding_transcript_exon_variant,,ENST00000543624,,n.232C>T,MODIFIER,YES,,,1	T	ENST00000306960	Transcript	missense_variant	missense_variant	879/2964	337/1383	113/460	V/I	Gtc/Atc		1		-1	CHRM1	HGNC	HGNC:1950	protein_coding	YES	CCDS8040.1	ENSP00000306490	P11229	Q53XZ3	UPI00001252AB	NM_000738.2	deleterious(0)	probably_damaging(0.999)	2/2		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR00243;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	CATGACGGAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	62910764	62910764	C	T	1	0	0	0	0	1	0	0	0	3136	536	19	1		1	CHRM1	11	62910764	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1571438	62910764	72175858	262	1435											
HRASLS5	117245	BI	GRCh38	chr11	63490316	63490316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggagctggaccaacgctgCgaatcccacggattcttcta	11	12	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.196G>A	p.Ala66Thr	p.A66T	ENST00000301790	2/6	200	156	44	218			HRASLS5,missense_variant,p.A56T,ENST00000540857,NM_001146729.1,c.166G>A,MODERATE,,tolerated_low_confidence(0.22),benign(0.246),-1;HRASLS5,missense_variant,p.A66T,ENST00000539221,NM_001146728.1,c.196G>A,MODERATE,,tolerated_low_confidence(0.1),benign(0.397),-1;HRASLS5,missense_variant,p.A66T,ENST00000301790,NM_054108.3,c.196G>A,MODERATE,YES,tolerated_low_confidence(0.09),benign(0.207),-1;HRASLS5,5_prime_UTR_variant,,ENST00000538712,,c.-459G>A,MODIFIER,,,,-1;HRASLS5,missense_variant,p.A25T,ENST00000536887,,c.71G>A,MODERATE,,tolerated_low_confidence(0.48),probably_damaging(0.982),-1;HRASLS5,intron_variant,,ENST00000394615,,c.79+571G>A,MODIFIER,,,,-1	T	ENST00000301790	Transcript	missense_variant	missense_variant	356/1166	196/840	66/279	A/T	Gca/Aca		1		-1	HRASLS5	HGNC	HGNC:24978	protein_coding	YES	CCDS8044.1	ENSP00000301790	Q96KN8		UPI000013E758	NM_054108.3	tolerated_low_confidence(0.09)	benign(0.207)	2/6																			MODERATE	1	SNV	1			1											PASS	CGCTGCGAATC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	63490316	63490316	C	T	1	0	0	0	0	1	0	0	0	7246	768	27	2		2	HRASLS5	11	63490316	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	579552	63490316	71596306	263	1436											
MEN1	4221	BI	GRCh38	chr11	64807649	64807649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccatcttgcggtcacagCgcatgtatgatcctttcagg	9	13	3	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.701G>A	p.Arg234His	p.R234H	ENST00000337652	4/10	54	36	18	89			MEN1,missense_variant,p.R234H,ENST00000337652,NM_130803.2,c.701G>A,MODERATE,YES,tolerated(0.13),probably_damaging(0.938),-1;MEN1,missense_variant,p.R234H,ENST00000394374,NM_000244.3&NM_130800.2&NM_130801.2&NM_130802.2,c.701G>A,MODERATE,,tolerated(0.13),probably_damaging(0.938),-1;MEN1,missense_variant,p.R229H,ENST00000377326,,c.686G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.898),-1;MEN1,missense_variant,p.R229H,ENST00000315422,,c.686G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.898),-1;MEN1,missense_variant,p.R234H,ENST00000394376,NM_130804.2,c.701G>A,MODERATE,,tolerated(0.13),probably_damaging(0.938),-1;MEN1,missense_variant,p.R229H,ENST00000377316,,c.686G>A,MODERATE,,tolerated(0.33),probably_damaging(0.972),-1;MEN1,missense_variant,p.R229H,ENST00000312049,NM_130799.2,c.686G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.898),-1;MEN1,missense_variant,p.R194H,ENST00000377321,,c.581G>A,MODERATE,,tolerated(0.13),probably_damaging(0.923),-1;MEN1,missense_variant,p.R234H,ENST00000377313,,c.701G>A,MODERATE,,tolerated(0.13),probably_damaging(0.938),-1;MEN1,missense_variant,p.R229H,ENST00000440873,,c.686G>A,MODERATE,,tolerated(0.31),probably_damaging(0.972),-1;MEN1,missense_variant,p.R229H,ENST00000450708,,c.686G>A,MODERATE,,tolerated(0.36),probably_damaging(0.972),-1;MEN1,missense_variant,p.R229H,ENST00000413626,,c.686G>A,MODERATE,,tolerated(0.36),probably_damaging(0.972),-1;MAP4K2,upstream_gene_variant,,ENST00000294066,NM_004579.3,,MODIFIER,YES,,,-1;MAP4K2,upstream_gene_variant,,ENST00000377350,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000439069,,,MODIFIER,,,,-1;MEN1,downstream_gene_variant,,ENST00000429702,,,MODIFIER,,,,-1;MEN1,downstream_gene_variant,,ENST00000424912,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000468062,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000482314,,,MODIFIER,,,,-1;MEN1,upstream_gene_variant,,ENST00000487019,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000435926,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000433890,,,MODIFIER,,,,-1;MEN1,upstream_gene_variant,,ENST00000478548,,,MODIFIER,,,,-1;MAP4K2,upstream_gene_variant,,ENST00000444560,,,MODIFIER,,,,-1	T	ENST00000337652	Transcript	missense_variant	missense_variant	1205/3162	701/1848	234/615	R/H	cGc/cAc		1		-1	MEN1	HGNC	HGNC:7010	protein_coding	YES	CCDS8083.1	ENSP00000337088	O00255		UPI0000246DC0	NM_130803.2	tolerated(0.13)	probably_damaging(0.938)	4/10		Pfam_domain:PF05053																	MODERATE		SNV	5			1											PASS	CACAGCGCATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2164488	True	Unknown	T	3	4	80	64807649	64807649	C	T	1	0	0	0	0	1	0	0	0	9417	768	27	2		2	MEN1	11	64807649	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1317333	64807649	70278973	264	1437											
EHD1	10938	BI	GRCh38	chr11	64855340	64855340	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctgcatcttgcggaggctCgggaagtccccaggggagat	15	11	1	1	rs144668933	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1062G>A	p.=	p.P354P	ENST00000320631	4/5	33	24	9	57			EHD1,synonymous_variant,p.P354P,ENST00000320631,NM_006795.3,c.1062G>A,LOW,,,,-1;EHD1,synonymous_variant,p.P354P,ENST00000359393,NM_001282444.1,c.1062G>A,LOW,,,,-1;EHD1,synonymous_variant,p.P368P,ENST00000621096,NM_001282445.1,c.1104G>A,LOW,YES,,,-1;EHD1,synonymous_variant,p.P368P,ENST00000433803,,c.1104G>A,LOW,,,,-1;EHD1,synonymous_variant,p.P218P,ENST00000421510,,c.654G>A,LOW,,,,-1;EHD1,downstream_gene_variant,,ENST00000455148,,,MODIFIER,,,,-1;EHD1,upstream_gene_variant,,ENST00000488711,,,MODIFIER,,,,-1;EHD1,non_coding_transcript_exon_variant,,ENST00000484846,,n.1324G>A,MODIFIER,,,,-1;EHD1,non_coding_transcript_exon_variant,,ENST00000498472,,n.269G>A,MODIFIER,,,,-1;EHD1,downstream_gene_variant,,ENST00000466015,,,MODIFIER,,,,-1	T	ENST00000320631	Transcript	synonymous_variant	synonymous_variant	1317/4551	1062/1605	354/534	P	ccG/ccA	rs144668933	1		-1	EHD1	HGNC	HGNC:3242	protein_coding		CCDS8084.1	ENSP00000320516	Q9H4M9	B2R5U3	UPI0000129E22	NM_006795.3			4/5										2e-04	3e-04								LOW		SNV	1			1	6.589e-05	6.625e-05	9.671e-05	0	0.0003471	0	6.037e-05	0	0		PASS	AGGCTCGGGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	64855340	64855340	C	T	1	0	0	0	0	0	0	0	1	4813	871	31	2		2	EHD1	11	64855340	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	47691	64855340	70231282	265	1438											
EFEMP2	30008	BI	GRCh38	chr11	65870560	65870560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactcgggcccgatcttgcGgtaaccatcagggcaggtgc	13	13	2	0	rs573771187	by1000G;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.466C>T	p.Arg156Cys	p.R156C	ENST00000307998	5/11	15	5	10	30			EFEMP2,missense_variant,p.R156C,ENST00000307998,NM_016938.4,c.466C>T,MODERATE,YES,tolerated(0.18),probably_damaging(0.973),-1;EFEMP2,missense_variant,p.R156C,ENST00000528176,,c.466C>T,MODERATE,,tolerated(0.17),probably_damaging(0.991),-1;EFEMP2,missense_variant,p.R156C,ENST00000526624,,c.466C>T,MODERATE,,deleterious(0.04),probably_damaging(0.973),-1;EFEMP2,missense_variant,p.R156C,ENST00000527378,,c.466C>T,MODERATE,,deleterious(0.01),probably_damaging(0.973),-1;MUS81,downstream_gene_variant,,ENST00000308110,NM_025128.4,,MODIFIER,YES,,,1;MUS81,downstream_gene_variant,,ENST00000533035,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000529742,,,MODIFIER,,,,1;EFEMP2,upstream_gene_variant,,ENST00000531645,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000526911,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000530806,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000525006,,,MODIFIER,,,,1;EFEMP2,upstream_gene_variant,,ENST00000532648,,,MODIFIER,,,,-1;EFEMP2,missense_variant,p.R156C,ENST00000531972,,c.466C>T,MODERATE,,tolerated(0.18),probably_damaging(0.973),-1;EFEMP2,3_prime_UTR_variant,,ENST00000533347,,c.*278C>T,MODIFIER,,,,-1;EFEMP2,3_prime_UTR_variant,,ENST00000530850,,c.*278C>T,MODIFIER,,,,-1;EFEMP2,non_coding_transcript_exon_variant,,ENST00000531005,,n.1460C>T,MODIFIER,,,,-1;EFEMP2,non_coding_transcript_exon_variant,,ENST00000527969,,n.145C>T,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000531905,,,MODIFIER,,,,1;EFEMP2,upstream_gene_variant,,ENST00000526628,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000524647,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000530928,,,MODIFIER,,,,1;EFEMP2,downstream_gene_variant,,ENST00000529870,,,MODIFIER,,,,-1;MUS81,downstream_gene_variant,,ENST00000529786,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000530282,,,MODIFIER,,,,1;MUS81,downstream_gene_variant,,ENST00000533519,,,MODIFIER,,,,1;EFEMP2,upstream_gene_variant,,ENST00000528409,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000532084,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000527277,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000524408,,,MODIFIER,,,,-1;EFEMP2,upstream_gene_variant,,ENST00000525392,,,MODIFIER,,,,-1	A	ENST00000307998	Transcript	missense_variant	missense_variant	697/2034	466/1332	156/443	R/C	Cgc/Tgc	rs573771187	1		-1	EFEMP2	HGNC	HGNC:3219	protein_coding	YES	CCDS8116.1	ENSP00000309953	O95967	A0A024R5G1	UPI000013EC97	NM_016938.4	tolerated(0.18)	probably_damaging(0.973)	5/11		Pfam_domain:PF07645;PROSITE_profiles:PS50311;PROSITE_profiles:PS50026;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196	4e-04	0.0015	0		0	0	0										MODERATE	1	SNV	1			1	3.295e-05	2.499e-05	0.0001948	0	0	0	0	0	6.076e-05		PASS	CTTGCGGTAAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	65870560	65870560	G	A	1	0	0	0	0	1	0	0	0	4779	1116	39	2		2	EFEMP2	11	65870560	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1015220	65870560	69216062	266	1439											
TCIRG1	10312	BI	GRCh38	chr11	68045060	68045060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagcttccagggcatcGtggatgcctacggcgtgggc	16	13	0	0	rs200415611	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1123G>A	p.Val375Met	p.V375M	ENST00000265686	10/20	54	45	9	65			TCIRG1,missense_variant,p.V375M,ENST00000265686,NM_006019.3,c.1123G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.996),1;TCIRG1,missense_variant,p.V159M,ENST00000532635,NM_006053.3,c.475G>A,MODERATE,,deleterious(0.02),probably_damaging(0.996),1;TCIRG1,missense_variant,p.R179H,ENST00000529364,,c.534G>A,MODERATE,,tolerated_low_confidence(0.06),unknown(0),1;TCIRG1,downstream_gene_variant,,ENST00000524598,,,MODIFIER,,,,1;TCIRG1,downstream_gene_variant,,ENST00000529657,,,MODIFIER,,,,1;TCIRG1,upstream_gene_variant,,ENST00000530063,,,MODIFIER,,,,1;MIR6753,downstream_gene_variant,,ENST00000617169,,,MODIFIER,YES,,,1;TCIRG1,missense_variant,p.V72M,ENST00000528981,,c.213G>A,MODERATE,,deleterious(0.03),probably_damaging(1),1;TCIRG1,non_coding_transcript_exon_variant,,ENST00000525724,,n.435G>A,MODIFIER,,,,1;TCIRG1,non_coding_transcript_exon_variant,,ENST00000533005,,n.159G>A,MODIFIER,,,,1;TCIRG1,downstream_gene_variant,,ENST00000533947,,,MODIFIER,,,,1;TCIRG1,downstream_gene_variant,,ENST00000534673,,,MODIFIER,,,,1;TCIRG1,upstream_gene_variant,,ENST00000524870,,,MODIFIER,,,,1;TCIRG1,upstream_gene_variant,,ENST00000525516,,,MODIFIER,,,,1;TCIRG1,downstream_gene_variant,,ENST00000527530,,,MODIFIER,,,,1;TCIRG1,upstream_gene_variant,,ENST00000530449,,,MODIFIER,,,,1	A	ENST00000265686	Transcript	missense_variant	missense_variant	1231/2677	1123/2493	375/830	V/M	Gtg/Atg	rs200415611	1		1	TCIRG1	HGNC	HGNC:11647	protein_coding	YES	CCDS8177.1	ENSP00000265686	Q13488	A0A024R5E5	UPI000006EC9A	NM_006019.3	deleterious(0.01)	probably_damaging(0.996)	10/20		Pfam_domain:PF01496	2e-04	0	0		0	0.001	0										MODERATE	1	SNV	1			1	3.295e-05	3.347e-05	0	0	0	0	0	0	0.0002426		PASS	GCATCGTGGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	68045060	68045060	G	A	1	0	0	0	0	1	0	0	0	16110	1145	40	1		1	TCIRG1	11	68045060	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2174500	68045060	67041562	267	1440											
PPFIA1	8500	BI	GRCh38	chr11	70362369	70362369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcatgtcggccctgtccGacacagagatccagcgtgag	11	14	1	2	rs750191381	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2746G>A	p.Asp916Asn	p.D916N	ENST00000253925	21/28	45	41	4	65			PPFIA1,missense_variant,p.D916N,ENST00000253925,NM_003626.3,c.2746G>A,MODERATE,YES,deleterious(0),probably_damaging(0.995),1;PPFIA1,missense_variant,p.D916N,ENST00000389547,NM_177423.2,c.2746G>A,MODERATE,,deleterious(0),probably_damaging(0.93),1;PPFIA1,missense_variant,p.D359N,ENST00000528750,,c.1074G>A,MODERATE,,,,1;AP000487.6,intron_variant,,ENST00000528607,,n.493+507C>T,MODIFIER,YES,,,-1;AP000487.4,upstream_gene_variant,,ENST00000324630,,,MODIFIER,YES,,,-1;PPFIA1,upstream_gene_variant,,ENST00000530548,,,MODIFIER,,,,1;PPFIA1,3_prime_UTR_variant,,ENST00000532504,,c.*1005G>A,MODIFIER,,,,1;PPFIA1,3_prime_UTR_variant,,ENST00000526262,,c.*1005G>A,MODIFIER,,,,1;PPFIA1,3_prime_UTR_variant,,ENST00000530390,,c.*635G>A,MODIFIER,,,,1;PPFIA1,non_coding_transcript_exon_variant,,ENST00000532793,,n.124G>A,MODIFIER,,,,1;PPFIA1,downstream_gene_variant,,ENST00000527612,,,MODIFIER,,,,1	A	ENST00000253925	Transcript	missense_variant	missense_variant	2961/5234	2746/3609	916/1202	D/N	Gac/Aac	rs750191381	1		1	PPFIA1	HGNC	HGNC:9245	protein_coding	YES	CCDS31627.1	ENSP00000253925	Q13136		UPI0000072426	NM_003626.3	deleterious(0)	probably_damaging(0.995)	21/28		Pfam_domain:PF00536;PROSITE_profiles:PS50105;SMART_domains:SM00454;Superfamily_domains:SSF47769																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	8.637e-05	0.0001156	0	0	0	0		PASS	TGTCCGACACA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM388992	True	Unknown	A	3	1	80	70362369	70362369	G	A	1	0	0	0	0	1	0	0	0	12418	1058	37	2		2	PPFIA1	11	70362369	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2317309	70362369	64724253	268	1441											
P2RY2	5029	BI	GRCh38	chr11	73234622	73234622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacgctcgccgggtggccGgggccgtgtgggtgttggtg	21	10	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.463G>A	p.Gly155Arg	p.G155R	ENST00000311131	3/3	51	45	6	44			P2RY2,missense_variant,p.G155R,ENST00000311131,NM_176072.2,c.463G>A,MODERATE,YES,deleterious(0.03),benign(0.175),1;P2RY2,missense_variant,p.G155R,ENST00000393596,NM_176071.2,c.463G>A,MODERATE,,deleterious(0.03),benign(0.175),1;P2RY2,missense_variant,p.G155R,ENST00000393597,NM_002564.3,c.463G>A,MODERATE,,deleterious(0.03),benign(0.175),1;RP11-800A3.4,upstream_gene_variant,,ENST00000565433,,,MODIFIER,YES,,,1	A	ENST00000311131	Transcript	missense_variant	missense_variant	930/2660	463/1134	155/377	G/R	Ggg/Agg		1		1	P2RY2	HGNC	HGNC:8541	protein_coding	YES	CCDS8219.1	ENSP00000310305	P41231		UPI000013F103	NM_176072.2	deleterious(0.03)	benign(0.175)	3/3		Low_complexity_(Seg):Seg;Pfam_domain:PF00001;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1											PASS	TGGCCGGGGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5487202	True	Unknown	A	3	1	80	73234622	73234622	G	A	1	0	0	0	0	1	0	0	0	11425	1116	39	2		2	P2RY2	11	73234622	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2872253	73234622	61852000	269	1442											
ARHGEF17	9828	BI	GRCh38	chr11	73310305	73310305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagaagcccatggcccGccgcctgccccgcaccagtg	11	19	1	1	rs373537661	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1667G>A	p.Arg556His	p.R556H	ENST00000263674	1/21	28	24	4	50			ARHGEF17,missense_variant,p.R556H,ENST00000263674,NM_014786.3,c.1667G>A,MODERATE,YES,deleterious_low_confidence(0.04),benign(0),1;ARHGEF17,upstream_gene_variant,,ENST00000544519,,,MODIFIER,,,,1;RP11-800A3.7,upstream_gene_variant,,ENST00000546324,,,MODIFIER,YES,,,-1	A	ENST00000263674	Transcript	missense_variant	missense_variant	2017/7853	1667/6192	556/2063	R/H	cGc/cAc	rs373537661	1		1	ARHGEF17	HGNC	HGNC:21726	protein_coding	YES	CCDS8221.1	ENSP00000263674	Q96PE2		UPI000004980B	NM_014786.3	deleterious_low_confidence(0.04)	benign(0)	1/21		Superfamily_domains:SSF47220								2e-04	0								MODERATE	1	SNV	1			1	8.237e-06	8.296e-06	9.75e-05	0	0	0	0	0	0		PASS	GGCCCGCCGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	73310305	73310305	G	A	1	0	0	0	0	1	0	0	0	1030	1087	38	2		2	ARHGEF17	11	73310305	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	75683	73310305	61776317	270	1443											
KCNE3	10008	BI	GRCh38	chr11	74457407	74457407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtaggagttgtcatcacGgccaggtaggctggcccgcc	14	12	2	0	rs371666083	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.157C>T	p.Arg53Cys	p.R53C	ENST00000310128	3/3	32	16	16	49			KCNE3,missense_variant,p.R53C,ENST00000310128,NM_005472.4,c.157C>T,MODERATE,YES,deleterious(0),probably_damaging(0.95),-1;KCNE3,missense_variant,p.R53C,ENST00000525550,,c.157C>T,MODERATE,,deleterious(0),probably_damaging(0.95),-1;KCNE3,missense_variant,p.R53C,ENST00000532569,,c.157C>T,MODERATE,,deleterious(0),probably_damaging(0.95),-1;KCNE3,incomplete_terminal_codon_variant,p.X53X,ENST00000531854,,c.157C>T,LOW,,,,-1;KCNE3,downstream_gene_variant,,ENST00000529425,,,MODIFIER,,,,-1;KCNE3,downstream_gene_variant,,ENST00000526855,,,MODIFIER,,,,-1;RP11-702H23.4,intron_variant,,ENST00000533008,,n.155-26770G>A,MODIFIER,,,,1;RP11-702H23.6,downstream_gene_variant,,ENST00000530510,,,MODIFIER,YES,,,1	A	ENST00000310128	Transcript	missense_variant	missense_variant	577/3143	157/312	53/103	R/C	Cgt/Tgt	rs371666083	1		-1	KCNE3	HGNC	HGNC:6243	protein_coding	YES	CCDS8232.1	ENSP00000310557	Q9Y6H6	Q6IAE6	UPI000012F15C	NM_005472.4	deleterious(0)	probably_damaging(0.95)	3/3		Pfam_domain:PF02060;Prints_domain:PR01606								0	1e-04								MODERATE	1	SNV	1			1	2.471e-05	2.476e-05	0	0	0	0	4.506e-05	0	0		PASS	ATCACGGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	74457407	74457407	G	A	1	0	0	0	0	1	0	0	0	7940	1116	39	2		2	KCNE3	11	74457407	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1147102	74457407	60629215	271	1444											
SLCO2B1	11309	BI	GRCh38	chr11	75196593	75196593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acggctttaaccctgtctgcGaccccagcactcgtgtggaa	10	14	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1513G>A	p.Asp505Asn	p.D505N	ENST00000289575	10/14	50	32	18	50			SLCO2B1,missense_variant,p.D505N,ENST00000289575,NM_007256.4,c.1513G>A,MODERATE,YES,deleterious(0.04),benign(0.207),1;SLCO2B1,missense_variant,p.D278N,ENST00000454962,,c.832G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.827),1;SLCO2B1,missense_variant,p.D389N,ENST00000532236,,c.1165G>A,MODERATE,,tolerated(0.06),possibly_damaging(0.834),1;SLCO2B1,missense_variant,p.D483N,ENST00000428359,NM_001145211.2,c.1447G>A,MODERATE,,deleterious(0.04),benign(0.212),1;SLCO2B1,missense_variant,p.D361N,ENST00000525650,NM_001145212.2,c.1081G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.744),1;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000531756,,n.1060G>A,MODIFIER,,,,1;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000530012,,n.340G>A,MODIFIER,,,,1;SLCO2B1,non_coding_transcript_exon_variant,,ENST00000528108,,n.319G>A,MODIFIER,,,,1;SLCO2B1,upstream_gene_variant,,ENST00000530015,,,MODIFIER,,,,1	A	ENST00000289575	Transcript	missense_variant	missense_variant	1908/4494	1513/2130	505/709	D/N	Gac/Aac		1		1	SLCO2B1	HGNC	HGNC:10962	protein_coding	YES	CCDS8235.1	ENSP00000289575		A0A024R5I4	UPI000000D99A	NM_007256.4	deleterious(0.04)	benign(0.207)	10/14		Pfam_domain:PF03137;TIGRFAM_domain:TIGR00805;Superfamily_domains:SSF103473;Superfamily_domains:SSF100895																	MODERATE	1	SNV	1			1											PASS	TCTGCGACCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	75196593	75196593	G	A	1	0	0	0	0	1	0	0	0	15014	1058	37	2		2	SLCO2B1	11	75196593	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	739186	75196593	59890029	272	1445											
MYO7A	4647	BI	GRCh38	chr11	77179069	77179069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactttctgaagctgaagaaCgctgccacactgatccagag	9	11	1	5	rs782329400	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2307C>T	p.=	p.N769N	ENST00000409709	20/49	8	3	5	15			MYO7A,synonymous_variant,p.N769N,ENST00000409709,NM_000260.3,c.2307C>T,LOW,YES,,,1;MYO7A,synonymous_variant,p.N769N,ENST00000458637,NM_001127180.1,c.2307C>T,LOW,,,,1;MYO7A,synonymous_variant,p.N758N,ENST00000409619,,c.2274C>T,LOW,,,,1;MYO7A,synonymous_variant,p.N769N,ENST00000409893,NM_001127179.2,c.2307C>T,LOW,,,,1;MYO7A,synonymous_variant,p.N769N,ENST00000620575,,c.2307C>T,LOW,,,,1;MYO7A,upstream_gene_variant,,ENST00000458169,,,MODIFIER,,,,1;MYO7A,upstream_gene_variant,,ENST00000481328,,,MODIFIER,,,,1	T	ENST00000409709	Transcript	synonymous_variant	synonymous_variant	2579/7462	2307/6648	769/2215	N	aaC/aaT	rs782329400	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3			20/49		Pfam_domain:PF00612;PROSITE_profiles:PS50096;SMART_domains:SM00015;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1	2.495e-05	4.099e-05	0	0.0001592	0.000184	0	0	0	9.446e-05		PASS	AAGAACGCTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	77179069	77179069	C	T	1	0	0	0	0	0	0	0	1	10083	535	19	1		1	MYO7A	11	77179069	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1982476	77179069	57907553	273	1446											
MYO7A	4647	BI	GRCh38	chr11	77201626	77201626	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactgtcaccatgccaccGcgggagattgtggtatgtgg	13	12	1	1	rs558097664	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5031G>A	p.=	p.P1677P	ENST00000409709	36/49	40	37	3	35			MYO7A,synonymous_variant,p.P1677P,ENST00000409709,NM_000260.3,c.5031G>A,LOW,YES,,,1;MYO7A,synonymous_variant,p.P1639P,ENST00000458637,NM_001127180.1,c.4917G>A,LOW,,,,1;MYO7A,synonymous_variant,p.P1628P,ENST00000409619,,c.4884G>A,LOW,,,,1;MYO7A,synonymous_variant,p.P819P,ENST00000458169,,c.2457G>A,LOW,,,,1;MYO7A,upstream_gene_variant,,ENST00000605744,,,MODIFIER,,,,1;MYO7A,non_coding_transcript_exon_variant,,ENST00000481328,,n.2567G>A,MODIFIER,,,,1	A	ENST00000409709	Transcript	synonymous_variant	synonymous_variant	5303/7462	5031/6648	1677/2215	P	ccG/ccA	rs558097664	1		1	MYO7A	HGNC	HGNC:7606	protein_coding	YES	CCDS53683.1	ENSP00000386331	Q13402		UPI00001FAFE6	NM_000260.3			36/49		Superfamily_domains:SSF50044	2e-04	8e-04	0		0	0	0										LOW	1	SNV	1			1	1.652e-05	1.67e-05	0.0001023	8.679e-05	0	0	0	0	0		PASS	CCACCGCGGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2018799	True	Unknown	A	2	1	80	77201626	77201626	G	A	1	0	0	0	0	0	0	0	1	10083	1074	38	2		2	MYO7A	11	77201626	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22557	77201626	57884996	274	1447											
GPR83	10888	BI	GRCh38	chr11	94380639	94380639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacagtttcttggccacaCgagcgtaggccacagagatg	12	12	1	1	rs139287789	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.782G>A	p.Arg261His	p.R261H	ENST00000243673	4/4	23	20	3	27			GPR83,missense_variant,p.R261H,ENST00000243673,NM_016540.3,c.782G>A,MODERATE,YES,tolerated(0.75),benign(0.013),-1;GPR83,missense_variant,p.R219H,ENST00000539203,,c.656G>A,MODERATE,,tolerated(0.61),benign(0.013),-1	T	ENST00000243673	Transcript	missense_variant	missense_variant	954/4282	782/1272	261/423	R/H	cGt/cAt	rs139287789	1		-1	GPR83	HGNC	HGNC:4523	protein_coding	YES	CCDS8297.1	ENSP00000243673	Q9NYM4		UPI000013CB3F	NM_016540.3	tolerated(0.75)	benign(0.013)	4/4		Transmembrane_helices:Tmhmm;Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR00237;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321								0	1e-04								MODERATE	1	SNV	1			1	4.942e-05	4.957e-05	9.632e-05	8.682e-05	0	0	6.011e-05	0	0		panel_of_normals	CCACACGAGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	94380639	94380639	C	T	1	0	0	0	0	1	0	0	0	6594	536	19	1		1	GPR83	11	94380639	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	17179013	94380639	40705983	275	1448											
YAP1	10413	BI	GRCh38	chr11	102223694	102223694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccagtgtcttctcccGggatgtctcaggaattgaga	10	9	3	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1105G>A	p.Gly369Arg	p.G369R	ENST00000282441	7/9	76	38	38	76			YAP1,missense_variant,p.G373R,ENST00000615667,NM_001282101.1,c.1117G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.987),1;YAP1,missense_variant,p.G369R,ENST00000282441,NM_001130145.2,c.1105G>A,MODERATE,,tolerated(0.06),benign(0.177),1;YAP1,missense_variant,p.G357R,ENST00000537274,NM_001282100.1,c.1069G>A,MODERATE,,tolerated(0.06),probably_damaging(0.988),1;YAP1,missense_variant,p.G335R,ENST00000345877,NM_001282097.1&NM_001282099.1,c.1003G>A,MODERATE,,deleterious(0.05),probably_damaging(0.991),1;YAP1,missense_variant,p.G315R,ENST00000526343,NM_006106.4,c.943G>A,MODERATE,,tolerated(0.07),probably_damaging(0.999),1;YAP1,missense_variant,p.G191R,ENST00000524575,NM_001195045.1,c.571G>A,MODERATE,,deleterious(0.04),benign(0.177),1;YAP1,missense_variant,p.G353R,ENST00000531439,NM_001195044.1,c.1057G>A,MODERATE,,tolerated(0.07),probably_damaging(0.993),1;YAP1,missense_variant,p.G123R,ENST00000529029,,c.366G>A,MODERATE,,tolerated(0.05),probably_damaging(0.997),1;YAP1,missense_variant,p.G319R,ENST00000629586,NM_001282098.1,c.955G>A,MODERATE,,tolerated(0.06),probably_damaging(1),1;YAP1,upstream_gene_variant,,ENST00000528834,,,MODIFIER,,,,1	A	ENST00000282441	Transcript	missense_variant	missense_variant	1493/5386	1105/1515	369/504	G/R	Ggg/Agg		1		1	YAP1	HGNC	HGNC:16262	protein_coding		CCDS44716.1	ENSP00000282441	P46937		UPI00000746D8	NM_001130145.2	tolerated(0.06)	benign(0.177)	7/9																			MODERATE		SNV	1			1											panel_of_normals	CTCCCGGGATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	102223694	102223694	G	A	1	0	0	0	0	1	0	0	0	18026	1116	39	2		2	YAP1	11	102223694	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7843055	102223694	32862928	276	1449											
APOA4	337	BI	GRCh38	chr11	116821060	116821060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggccttccacgtcccccGcatgggggcccagtttctgc	12	16	1	0	rs113263292	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.998C>T	p.Ala333Val	p.A333V	ENST00000357780	3/3	51	40	11	74			APOA4,missense_variant,p.A333V,ENST00000357780,NM_000482.3,c.998C>T,MODERATE,YES,tolerated(0.12),benign(0.26),-1	A	ENST00000357780	Transcript	missense_variant	missense_variant	1113/1473	998/1191	333/396	A/V	gCg/gTg	rs113263292	1		-1	APOA4	HGNC	HGNC:602	protein_coding	YES	CCDS31681.1	ENSP00000350425	P06727		UPI00001AE660	NM_000482.3	tolerated(0.12)	benign(0.26)	3/3		Pfam_domain:PF01442;Superfamily_domains:SSF47162																	MODERATE	1	SNV	1			1	2.471e-05	2.474e-05	9.634e-05	0	0	0	1.501e-05	0	6.056e-05		PASS	CCCCCGCATGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	116821060	116821060	G	A	1	0	0	0	0	1	0	0	0	905	1087	38	2		2	APOA4	11	116821060	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14597366	116821060	18265562	277	1450											
PCSK7	9159	BI	GRCh38	chr11	117219101	117219101	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgaggaggccgaaacCgtgctggtggctatggctga	18	8	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1387G>A	p.Gly463Ser	p.G463S	ENST00000320934	11/17	29	23	6	20			PCSK7,missense_variant,p.G463S,ENST00000320934,NM_004716.2,c.1387G>A,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;PCSK7,missense_variant,p.G463S,ENST00000540028,,c.1387G>A,MODERATE,,deleterious(0),probably_damaging(0.989),-1;PCSK7,non_coding_transcript_exon_variant,,ENST00000533135,,n.65G>A,MODIFIER,,,,-1;PCSK7,non_coding_transcript_exon_variant,,ENST00000534529,,n.3417G>A,MODIFIER,,,,-1;PCSK7,non_coding_transcript_exon_variant,,ENST00000527037,,n.1038G>A,MODIFIER,,,,-1;PCSK7,upstream_gene_variant,,ENST00000528973,,,MODIFIER,,,,-1;PCSK7,downstream_gene_variant,,ENST00000528217,,,MODIFIER,,,,-1	T	ENST00000320934	Transcript	missense_variant	missense_variant	2018/4649	1387/2358	463/785	G/S	Ggt/Agt		1		-1	PCSK7	HGNC	HGNC:8748	protein_coding	YES	CCDS8382.1	ENSP00000325917	Q16549		UPI0000070E4E	NM_004716.2	deleterious(0)	probably_damaging(0.998)	11/17		Pfam_domain:PF00082;Superfamily_domains:SSF52743																	MODERATE	1	SNV	1			1											PASS	GAAACCGTGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	117219101	117219101	C	T	1	0	0	0	0	1	0	0	0	11693	652	23	2		2	PCSK7	11	117219101	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	398041	117219101	17867521	278	1451											
DSCAML1	57453	BI	GRCh38	chr11	117430983	117430983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataggcccgggccagctcctCgtaggtggaagaggcactct	14	12	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5605G>A	p.Glu1869Lys	p.E1869K	ENST00000321322	32/33	74	30	44	104			DSCAML1,missense_variant,p.E1869K,ENST00000321322,NM_020693.2,c.5605G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;DSCAML1,missense_variant,p.E1599K,ENST00000527706,,c.4795G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1	T	ENST00000321322	Transcript	missense_variant	missense_variant	5607/6899	5605/6342	1869/2113	E/K	Gag/Aag		1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.2	deleterious(0)	probably_damaging(0.999)	32/33																			MODERATE	1	SNV	1			1											PASS	CTCCTCGTAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	117430983	117430983	C	T	1	0	0	0	0	1	0	0	0	4590	893	31	2		2	DSCAML1	11	117430983	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	211882	117430983	17655639	279	1452											
DSCAML1	57453	BI	GRCh38	chr11	117780694	117780694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtaccatcgaagggccgCgctgggggagcccgcggccg	18	14	0	0	rs775200712		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.343G>A	p.Ala115Thr	p.A115T	ENST00000321322	2/33	54	26	28	69			DSCAML1,missense_variant,p.A115T,ENST00000321322,NM_020693.2,c.343G>A,MODERATE,YES,tolerated(0.16),probably_damaging(0.957),-1;DSCAML1,5_prime_UTR_variant,,ENST00000525836,,c.-133G>A,MODIFIER,,,,-1;DSCAML1,intron_variant,,ENST00000527706,,c.102+61G>A,MODIFIER,,,,-1	T	ENST00000321322	Transcript	missense_variant	missense_variant	345/6899	343/6342	115/2113	A/T	Gcg/Acg	rs775200712	1		-1	DSCAML1	HGNC	HGNC:14656	protein_coding	YES	CCDS8384.1	ENSP00000315465	Q8TD84		UPI00000726E2	NM_020693.2	tolerated(0.16)	probably_damaging(0.957)	2/33		PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1	8.252e-06	8.637e-06	0	8.76e-05	0	0	0	0	0		PASS	GGCCGCGCTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	117780694	117780694	C	T	1	0	0	0	0	1	0	0	0	4590	768	27	2		2	DSCAML1	11	117780694	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	349711	117780694	17305928	280	1453											
CBL	867	BI	GRCh38	chr11	119273988	119273988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgcaatgattatatttcGgtttttgaatttgacatctt	6	6	1	3	rs146662327	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.711G>A	p.=	p.S237S	ENST00000264033	4/16	47	35	12	86			CBL,synonymous_variant,p.S237S,ENST00000264033,NM_005188.3,c.711G>A,LOW,YES,,,1	A	ENST00000264033	Transcript	synonymous_variant	synonymous_variant	1087/11465	711/2721	237/906	S	tcG/tcA	rs146662327	1		1	CBL	HGNC	HGNC:1541	protein_coding	YES	CCDS8418.1	ENSP00000264033	P22681		UPI000013D4A7	NM_005188.3			4/16		Pfam_domain:PF02761;Superfamily_domains:SSF47473								2e-04	0								LOW	1	SNV	1			1	6.589e-05	6.591e-05	0.0003847	0	0	0	4.496e-05	0	6.058e-05		PASS	ATTTCGGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	119273988	119273988	G	A	1	0	0	0	0	0	0	0	1	2401	1103	39	2		2	CBL	11	119273988	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1493294	119273988	15812634	281	1454											
NECTIN1	5818	BI	GRCh38	chr11	119664864	119664864	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtccggtccccgtagccGtcctgacgggcctcggcctc	13	17	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1437C>T	p.=	p.D479D	ENST00000264025	6/6	30	26	4	36			PVRL1,synonymous_variant,p.D479D,ENST00000264025,NM_002855.4,c.1437C>T,LOW,YES,,,-1;PVRL1,intron_variant,,ENST00000341398,NM_203285.1,c.1003+10295C>T,MODIFIER,,,,-1	A	ENST00000264025	Transcript	synonymous_variant	synonymous_variant	1968/5840	1437/1554	479/517	D	gaC/gaT		1		-1	PVRL1	HGNC	HGNC:9706	protein_coding	YES	CCDS8426.1	ENSP00000264025	Q15223			NM_002855.4			6/6																			LOW	1	SNV	1			1											PASS	TAGCCGTCCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	119664864	119664864	G	A	1	0	0	0	0	0	0	0	1	10333	1136	40	1		1	NECTIN1	11	119664864	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	390876	119664864	15421758	282	1455											
OAF	220323	BI	GRCh38	chr11	120226938	120226938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctccacaacgtgtgtgcCgaggccgtggatgccatcta	11	13	2	0	rs3740736	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.489C>T	p.=	p.A163A	ENST00000328965	3/4	24	17	7	32			OAF,synonymous_variant,p.A163A,ENST00000328965,NM_178507.2,c.489C>T,LOW,YES,,,1;OAF,synonymous_variant,p.A47A,ENST00000531220,,c.141C>T,LOW,,,,1	T	ENST00000328965	Transcript	synonymous_variant	synonymous_variant	1002/2525	489/822	163/273	A	gcC/gcT	rs3740736	1		1	OAF	HGNC	HGNC:28752	protein_coding	YES	CCDS8430.1	ENSP00000332613	Q86UD1		UPI000000DC44	NM_178507.2			3/4			0.0016	0	0		0.0079	0	0	7e-04	2e-04								LOW	1	SNV	1			1	0.0009307	0.0009385	0.0005812	0	0.01171	0	7.548e-05	0.001114	0		panel_of_normals	TGTGCCGAGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	120226938	120226938	C	T	1	0	0	0	0	0	0	0	1	10876	639	23	2		2	OAF	11	120226938	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	562074	120226938	14859684	283	1456											
GRIK4	2900	BI	GRCh38	chr11	120956879	120956879	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacagcctctggtttccGgtcggggggttcatgcagca	15	11	2	0	rs752016295		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1800G>A	p.=	p.P600P	ENST00000438375	15/20	48	44	4	53			GRIK4,synonymous_variant,p.P600P,ENST00000527524,NM_014619.3,c.1800G>A,LOW,YES,,,1;GRIK4,synonymous_variant,p.P600P,ENST00000438375,NM_001282473.1&NM_001282470.1,c.1800G>A,LOW,,,,1;GRIK4,non_coding_transcript_exon_variant,,ENST00000533291,,n.2198G>A,MODIFIER,,,,1	A	ENST00000438375	Transcript	synonymous_variant	synonymous_variant	2142/4214	1800/2871	600/956	P	ccG/ccA	rs752016295	1		1	GRIK4	HGNC	HGNC:4582	protein_coding		CCDS8433.1	ENSP00000404063	Q16099		UPI000013DB8D	NM_001282473.1;NM_001282470.1			15/20		Pfam_domain:PF00060;Pfam_domain:PF00497;Transmembrane_helices:Tmhmm;SMART_domains:SM00079;Superfamily_domains:SSF53850																	LOW		SNV	1			1	8.237e-06	8.266e-06	0	0	0.0001158	0	0	0	0		PASS	TTTCCGGTCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	120956879	120956879	G	A	1	0	0	0	0	0	0	0	1	6658	1103	39	2		2	GRIK4	11	120956879	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	729941	120956879	14129743	284	1457											
TECTA	7007	BI	GRCh38	chr11	121130063	121130063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgccatggggtggtgaaCgtcactgcctattaccgcac	13	11	1	1	rs750710717	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2793C>T	p.=	p.N931N	ENST00000264037	9/23	49	37	12	90			TECTA,synonymous_variant,p.N931N,ENST00000392793,,c.2793C>T,LOW,YES,,,1;TECTA,synonymous_variant,p.N931N,ENST00000264037,NM_005422.2,c.2793C>T,LOW,,,,1	T	ENST00000264037	Transcript	synonymous_variant	synonymous_variant	2793/6468	2793/6468	931/2155	N	aaC/aaT	rs750710717	1		1	TECTA	HGNC	HGNC:11720	protein_coding		CCDS8434.1	ENSP00000264037	O75443		UPI000045659D	NM_005422.2			9/23		Pfam_domain:PF08742;SMART_domains:SM00832																	LOW		SNV	2			1	4.118e-05	4.128e-05	0	0.0003456	0	0	1.501e-05	0	0		PASS	GTGAACGTCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	121130063	121130063	C	T	1	0	0	0	0	0	0	0	1	16158	535	19	1		1	TECTA	11	121130063	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	173184	121130063	13956559	285	1458											
PUS3	83480	BI	GRCh38	chr11	125893928	125893928	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtgggtgctcaattcGtcccctacgtacaaaatgct	8	10	1	0	rs774005569		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1303C>T	p.Arg435Ter	p.R435*	ENST00000227474	4/4	150	139	11	158			PUS3,stop_gained,p.R435*,ENST00000227474,NM_031307.3,c.1303C>T,HIGH,YES,,,-1;PUS3,stop_gained,p.R435*,ENST00000530811,,c.1303C>T,HIGH,,,,-1;PUS3,stop_gained,p.R227*,ENST00000613398,NM_001271985.1,c.679C>T,HIGH,,,,-1;HYLS1,intron_variant,,ENST00000425380,NM_001134793.1,c.-26+2456G>A,MODIFIER,YES,,,1;HYLS1,intron_variant,,ENST00000356438,NM_145014.2,c.-81+2456G>A,MODIFIER,,,,1;HYLS1,intron_variant,,ENST00000526028,,c.-26+2456G>A,MODIFIER,,,,1;PUS3,downstream_gene_variant,,ENST00000534158,,,MODIFIER,,,,-1;PUS3,downstream_gene_variant,,ENST00000529801,,,MODIFIER,,,,-1	A	ENST00000227474	Transcript	stop_gained	stop_gained	1401/1843	1303/1446	435/481	R/*	Cga/Tga	rs774005569	1		-1	PUS3	HGNC	HGNC:25461	protein_coding	YES	CCDS8466.1	ENSP00000227474	Q9BZE2		UPI0000071F9E	NM_031307.3			4/4																			HIGH	1	SNV	1			1											PASS	AATTCGTCCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5452275	True	Unknown	A	4	1	80	125893928	125893928	G	A	1	0	0	0	0	0	1	0	0	12990	1153	40	1		1	PUS3	11	125893928	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4763865	125893928	9192694	286	1459											
TMEM45B	120224	BI	GRCh38	chr11	129852560	129852560	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttggtcagtgaagtacccGctgaagtactttagccacac	10	10	1	2	rs145339290	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.78G>A	p.=	p.P26P	ENST00000281441	2/6	127	78	49	110			TMEM45B,synonymous_variant,p.P26P,ENST00000281441,NM_138788.3,c.78G>A,LOW,YES,,,1;TMEM45B,synonymous_variant,p.P26P,ENST00000524567,,c.78G>A,LOW,,,,1;TMEM45B,non_coding_transcript_exon_variant,,ENST00000527754,,n.229G>A,MODIFIER,,,,1;TMEM45B,non_coding_transcript_exon_variant,,ENST00000529381,,n.114G>A,MODIFIER,,,,1	A	ENST00000281441	Transcript	synonymous_variant	synonymous_variant	166/2234	78/828	26/275	P	ccG/ccA	rs145339290	1		1	TMEM45B	HGNC	HGNC:25194	protein_coding	YES	CCDS8482.1	ENSP00000281441	Q96B21		UPI0000039E75	NM_138788.3			2/6		Transmembrane_helices:Tmhmm								0	7e-04								LOW	1	SNV	2			1	0.0002059	0.0002059	0	0	0	0.0003024	0.0003446	0	0		panel_of_normals	TACCCGCTGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	2	1	80	129852560	129852560	G	A	1	0	0	0	0	0	0	0	1	16647	1074	38	2		2	TMEM45B	11	129852560	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3958632	129852560	5234062	287	1460											
IGSF9B	22997	BI	GRCh38	chr11	133936156	133936156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcctgggagatgttgaCggtgatgttctcaggagggg	17	6	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.718G>A	p.Val240Ile	p.V240I	ENST00000321016	6/19	20	16	4	10			IGSF9B,missense_variant,p.V240I,ENST00000533871,NM_001277285.1,c.718G>A,MODERATE,YES,tolerated(0.05),probably_damaging(0.996),-1;IGSF9B,missense_variant,p.V240I,ENST00000321016,,c.718G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;IGSF9B,downstream_gene_variant,,ENST00000533160,,,MODIFIER,,,,-1;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,,n.448G>A,MODIFIER,,,,-1	T	ENST00000321016	Transcript	missense_variant	missense_variant	718/4050	718/4050	240/1349	V/I	Gtc/Atc		1		-1	IGSF9B	HGNC	HGNC:32326	protein_coding			ENSP00000317980	Q9UPX0		UPI0001545E3E		deleterious(0)	probably_damaging(0.997)	6/19		Pfam_domain:PF07679;Pfam_domain:PF07686;PROSITE_profiles:PS50835;SMART_domains:SM00060;SMART_domains:SM00409;Superfamily_domains:SSF48726																	MODERATE		SNV	5			1											PASS	GTTGACGGTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4019497	True	Unknown	T	3	4	80	133936156	133936156	C	T	1	0	0	0	0	1	0	0	0	7514	536	19	1		1	IGSF9B	11	133936156	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4083596	133936156	1150466	288	1461											
IGSF9B	22997	BI	GRCh38	chr11	133937457	133937457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaggcacctctgtcctcccGactgaccgatgtcactgtca	9	15	3	1	rs750817042		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.598C>T	p.Arg200Trp	p.R200W	ENST00000321016	5/19	43	18	25	77			IGSF9B,missense_variant,p.R200W,ENST00000533871,NM_001277285.1,c.598C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;IGSF9B,missense_variant,p.R200W,ENST00000321016,,c.598C>T,MODERATE,,deleterious(0),probably_damaging(1),-1;IGSF9B,missense_variant,p.R190W,ENST00000533160,,c.568C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;IGSF9B,non_coding_transcript_exon_variant,,ENST00000527648,,n.328C>T,MODIFIER,,,,-1	A	ENST00000321016	Transcript	missense_variant	missense_variant	598/4050	598/4050	200/1349	R/W	Cgg/Tgg	rs750817042	1		-1	IGSF9B	HGNC	HGNC:32326	protein_coding			ENSP00000317980	Q9UPX0		UPI0001545E3E		deleterious(0)	probably_damaging(1)	5/19		Pfam_domain:PF07679;Pfam_domain:PF00047;PROSITE_profiles:PS50835;SMART_domains:SM00409;SMART_domains:SM00408;SMART_domains:SM00406;Superfamily_domains:SSF48726																	MODERATE		SNV	5			1	8.25e-06	8.424e-06	0	0	0	0	1.517e-05	0	0		PASS	CTCCCGACTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4761593	True	Unknown	A	3	1	80	133937457	133937457	G	A	1	0	0	0	0	1	0	0	0	7514	1057	37	2		2	IGSF9B	11	133937457	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1301	133937457	1149165	289	1462											
SLC6A12	6539	BI	GRCh38	chr12	209980	209980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcactgccaccttccCgtccatggctgtgtggtggg	12	14	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7G>A	p.Gly3Arg	p.G3R	ENST00000359674	3/16	23	15	8	24			SLC6A12,missense_variant,p.G3R,ENST00000424061,NM_003044.4,c.7G>A,MODERATE,YES,tolerated_low_confidence(0.65),benign(0.001),-1;SLC6A12,missense_variant,p.G3R,ENST00000397296,,c.7G>A,MODERATE,,tolerated_low_confidence(0.65),benign(0.001),-1;SLC6A12,missense_variant,p.G3R,ENST00000359674,NM_001122848.2&NM_001122847.2,c.7G>A,MODERATE,,tolerated_low_confidence(0.65),benign(0.001),-1;SLC6A12,missense_variant,p.G3R,ENST00000536824,NM_001206931.1,c.7G>A,MODERATE,,tolerated_low_confidence(0.65),benign(0.001),-1;SLC6A12,missense_variant,p.G3R,ENST00000537793,,c.7G>A,MODERATE,,tolerated_low_confidence(0.62),benign(0.001),-1;SLC6A12,missense_variant,p.G3R,ENST00000535347,,c.7G>A,MODERATE,,tolerated_low_confidence(1),unknown(0),-1;RP11-283I3.2,downstream_gene_variant,,ENST00000539568,,,MODIFIER,YES,,,1;SLC6A12,non_coding_transcript_exon_variant,,ENST00000536116,,n.184G>A,MODIFIER,,,,-1;SLC6A12,downstream_gene_variant,,ENST00000538424,,,MODIFIER,,,,-1;SLC6A12,non_coding_transcript_exon_variant,,ENST00000537826,,n.283G>A,MODIFIER,,,,-1	T	ENST00000359674	Transcript	missense_variant	missense_variant	336/3165	7/1845	3/614	G/R	Ggg/Agg		1		-1	SLC6A12	HGNC	HGNC:11045	protein_coding		CCDS8501.1	ENSP00000352702	P48065		UPI000013C8DB	NM_001122848.2;NM_001122847.2	tolerated_low_confidence(0.65)	benign(0.001)	3/16																			MODERATE		SNV	1			1											PASS	CTTCCCGTCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	209980	209980	C	T	1	0	0	0	0	1	0	0	0	14958	652	23	2		2	SLC6A12	12	209980	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		209980	133065329	290	1463											
ERC1	23085	BI	GRCh38	chr12	1027962	1027962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagccagagccctgggcGttcacccaggcttccacgtt	12	15	1	1	rs549963000	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.59G>A	p.Arg20His	p.R20H	ENST00000360905	2/19	123	69	54	93			ERC1,missense_variant,p.R20H,ENST00000543086,,c.59G>A,MODERATE,,tolerated(0.06),probably_damaging(0.966),1;ERC1,missense_variant,p.R20H,ENST00000589028,NM_178040.2,c.59G>A,MODERATE,YES,tolerated(0.05),probably_damaging(0.992),1;ERC1,missense_variant,p.R20H,ENST00000397203,NM_178039.2,c.59G>A,MODERATE,,tolerated(0.06),probably_damaging(0.966),1;ERC1,missense_variant,p.R20H,ENST00000355446,,c.59G>A,MODERATE,,tolerated(0.06),probably_damaging(0.977),1;ERC1,missense_variant,p.R20H,ENST00000360905,,c.59G>A,MODERATE,,tolerated(0.05),probably_damaging(0.992),1;ERC1,missense_variant,p.R20H,ENST00000546231,,c.59G>A,MODERATE,,tolerated(0.05),probably_damaging(0.997),1;ERC1,missense_variant,p.R20H,ENST00000611180,,c.59G>A,MODERATE,,deleterious_low_confidence(0),unknown(0),1;ERC1,missense_variant,p.R20H,ENST00000589132,,c.59G>A,MODERATE,,deleterious(0),probably_damaging(0.992),1;ERC1,missense_variant,p.R20H,ENST00000545318,,c.59G>A,MODERATE,,,,1;ERC1,intron_variant,,ENST00000592048,,c.-18-377G>A,MODIFIER,,,,1;ERC1,downstream_gene_variant,,ENST00000587595,,,MODIFIER,,,,1;ERC1,missense_variant,p.R20H,ENST00000440394,,c.59G>A,MODERATE,,tolerated(0.08),probably_damaging(0.949),1;ERC1,missense_variant,p.R20H,ENST00000347735,,c.59G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.754),1;ERC1,missense_variant,p.R20H,ENST00000542302,,c.59G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.715),1;ERC1,missense_variant,p.R20H,ENST00000545948,,c.59G>A,MODERATE,,deleterious_low_confidence(0),unknown(0),1	A	ENST00000360905	Transcript	missense_variant	missense_variant	240/5789	59/3351	20/1116	R/H	cGt/cAt	rs549963000	1		1	ERC1	HGNC	HGNC:17072	protein_coding		CCDS8508.1	ENSP00000354158	Q8IUD2		UPI000007479C		tolerated(0.05)	probably_damaging(0.992)	2/19		Low_complexity_(Seg):Seg	2e-04	0	0		0	0	0.001										MODERATE		SNV	1			1	3.295e-05	3.31e-05	0	0	0	0	1.504e-05	0	0.0001838		PASS	TGGGCGTTCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	1027962	1027962	G	A	1	0	0	0	0	1	0	0	0	5059	1145	40	1		1	ERC1	12	1027962	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	817982	1027962	132247347	291	1464											
DCP1B	196513	BI	GRCh38	chr12	1953069	1953069	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtttctgaatggctggacAgagctgcttctcaatggggg	15	7	2	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.871T>C	p.Cys291Arg	p.C291R	ENST00000280665	7/9	55	36	19	66			DCP1B,missense_variant,p.C291R,ENST00000280665,NM_152640.3,c.871T>C,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;DCP1B,missense_variant,p.C165R,ENST00000540622,,c.493T>C,MODERATE,,deleterious(0),probably_damaging(1),-1;DCP1B,non_coding_transcript_exon_variant,,ENST00000541700,,n.656T>C,MODIFIER,,,,-1;DCP1B,non_coding_transcript_exon_variant,,ENST00000536665,,n.547T>C,MODIFIER,,,,-1;DCP1B,3_prime_UTR_variant,,ENST00000543381,,c.*637T>C,MODIFIER,,,,-1	G	ENST00000280665	Transcript	missense_variant	missense_variant	951/2086	871/1854	291/617	C/R	Tgt/Cgt		1		-1	DCP1B	HGNC	HGNC:24451	protein_coding	YES	CCDS31727.1	ENSP00000280665	Q8IZD4		UPI000013DC30	NM_152640.3	deleterious(0)	probably_damaging(0.999)	7/9																			MODERATE	1	SNV	1			1											PASS	TGGACAGAGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	G	3	3	80	1953069	1953069	A	G	1	0	0	0	0	1	0	0	0	4101	188	7	4		4	DCP1B	12	1953069	Missense_Mutation	SNP	A	TCGA-YZ-A985-01A-11D-A39W-08	925107	1953069	131322240	292	1465											
CACNA1C	775	BI	GRCh38	chr12	2610625	2610625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagtacaaagtgtggtacGtggtcaactccacctacttc	8	12	1	0	rs747533547	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3703G>A	p.Val1235Met	p.V1235M	ENST00000347598	29/49	42	35	7	50			CACNA1C,missense_variant,p.V1215M,ENST00000399655,NM_000719.6,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.391),1;CACNA1C,missense_variant,p.V1076M,ENST00000615303,,c.3226G>A,MODERATE,,tolerated(0.07),benign(0.022),1;CACNA1C,missense_variant,p.V1056M,ENST00000620878,,c.3166G>A,MODERATE,,tolerated(0.08),probably_damaging(0.996),1;CACNA1C,missense_variant,p.V1076M,ENST00000615400,,c.3226G>A,MODERATE,,tolerated(0.08),benign(0.053),1;CACNA1C,missense_variant,p.V1056M,ENST00000621625,,c.3166G>A,MODERATE,,tolerated(0.08),benign(0.155),1;CACNA1C,missense_variant,p.V1056M,ENST00000613940,,c.3166G>A,MODERATE,,tolerated(0.08),benign(0.107),1;CACNA1C,missense_variant,p.V1215M,ENST00000399634,NM_001167625.1,c.3643G>A,MODERATE,,tolerated(0.09),probably_damaging(0.994),1;CACNA1C,missense_variant,p.V1215M,ENST00000406454,,c.3643G>A,MODERATE,,tolerated(0.09),probably_damaging(0.995),1;CACNA1C,missense_variant,p.V1215M,ENST00000399617,NM_001167624.1,c.3643G>A,MODERATE,,tolerated(0.09),benign(0.396),1;CACNA1C,missense_variant,p.V1215M,ENST00000399603,NM_001167623.1,c.3643G>A,MODERATE,,tolerated(0.1),probably_damaging(0.999),1;CACNA1C,missense_variant,p.V1240M,ENST00000335762,,c.3718G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.839),1;CACNA1C,missense_variant,p.V1215M,ENST00000480911,,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.143),1;CACNA1C,missense_variant,p.V1235M,ENST00000347598,NM_199460.2&NM_001129827.1,c.3703G>A,MODERATE,YES,tolerated(0.08),benign(0.053),1;CACNA1C,missense_variant,p.V1215M,ENST00000344100,NM_001129829.1,c.3643G>A,MODERATE,,tolerated(0.1),probably_damaging(0.969),1;CACNA1C,missense_variant,p.V1215M,ENST00000327702,NM_001129830.1,c.3643G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.574),1;CACNA1C,missense_variant,p.V1215M,ENST00000399638,NM_001129831.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.3),1;CACNA1C,missense_variant,p.V1235M,ENST00000399606,NM_001129832.1,c.3703G>A,MODERATE,,tolerated(0.08),probably_damaging(0.969),1;CACNA1C,missense_variant,p.V1215M,ENST00000399637,NM_001129835.1,c.3643G>A,MODERATE,,tolerated(0.1),probably_damaging(0.94),1;CACNA1C,missense_variant,p.V1215M,ENST00000402845,NM_001129833.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.286),1;CACNA1C,missense_variant,p.V1215M,ENST00000399621,NM_001129834.1,c.3643G>A,MODERATE,,tolerated(0.1),probably_damaging(0.969),1;CACNA1C,missense_variant,p.V1215M,ENST00000399629,NM_001129836.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.169),1;CACNA1C,missense_variant,p.V1215M,ENST00000399595,NM_001129837.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.336),1;CACNA1C,missense_variant,p.V1215M,ENST00000399591,NM_001129838.1&NM_001129846.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.249),1;CACNA1C,missense_variant,p.V1215M,ENST00000399649,NM_001129839.1,c.3643G>A,MODERATE,,tolerated(0.1),benign(0.336),1;CACNA1C,missense_variant,p.V1215M,ENST00000399641,NM_001129840.1,c.3643G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.694),1;CACNA1C,missense_variant,p.V1215M,ENST00000399597,NM_001129844.1&NM_001129842.1,c.3643G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.579),1;CACNA1C,missense_variant,p.V1215M,ENST00000399644,NM_001129841.1,c.3643G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.904),1;CACNA1C,missense_variant,p.V1215M,ENST00000399601,NM_001129843.1,c.3643G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.618),1;CACNA1C,missense_variant,p.V120M,ENST00000496818,,c.358G>A,MODERATE,,tolerated_low_confidence(0.06),probably_damaging(0.997),1;CACNA1C-AS3,upstream_gene_variant,,ENST00000543559,,,MODIFIER,YES,,,-1	A	ENST00000347598	Transcript	missense_variant	missense_variant	3703/6655	3703/6561	1235/2186	V/M	Gtg/Atg	rs747533547	1		1	CACNA1C	HGNC	HGNC:1390	protein_coding	YES	CCDS44788.1	ENSP00000266376	Q13936		UPI0000E593E5	NM_199460.2;NM_001129827.1	tolerated(0.08)	benign(0.053)	29/49		Transmembrane_helices:Tmhmm;Superfamily_domains:SSF81324																	MODERATE	1	SNV	1			1	8.238e-06	8.273e-06	0	0	0.0001157	0	0	0	0		PASS	GGTACGTGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5840805;COSM5840806;COSM5840807;COSM5840808;COSM5840809;COSM5840810	True	Unknown	A	3	1	80	2610625	2610625	G	A	1	0	0	0	0	1	0	0	0	2228	1145	40	1		1	CACNA1C	12	2610625	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	657556	2610625	130664684	293	1466											
FOXM1	2305	BI	GRCh38	chr12	2864686	2864686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactctcccatactaacgtgCgcccagggggagttcggttt	11	13	1	0	rs774372195	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1087G>A	p.Ala363Thr	p.A363T	ENST00000359843	7/9	86	80	6	91			FOXM1,missense_variant,p.A348T,ENST00000627656,NM_001243088.1,c.1042G>A,MODERATE,,tolerated(0.08),benign(0.128),-1;FOXM1,missense_variant,p.A363T,ENST00000342628,NM_202002.2,c.1087G>A,MODERATE,YES,tolerated(0.19),benign(0.178),-1;FOXM1,missense_variant,p.A348T,ENST00000361953,NM_202003.2&NM_001243089.1,c.1042G>A,MODERATE,,tolerated(0.1),benign(0.105),-1;FOXM1,missense_variant,p.A363T,ENST00000359843,NM_021953.3,c.1087G>A,MODERATE,,tolerated(0.12),benign(0.02),-1;FOXM1,missense_variant,p.A89T,ENST00000535350,,c.263G>A,MODERATE,,tolerated(0.15),benign(0.033),-1;ITFG2,downstream_gene_variant,,ENST00000545509,,,MODIFIER,,,,1;ITFG2,downstream_gene_variant,,ENST00000537710,,,MODIFIER,,,,1;FOXM1,downstream_gene_variant,,ENST00000537018,,,MODIFIER,,,,-1;FOXM1,3_prime_UTR_variant,,ENST00000538564,,c.*383G>A,MODIFIER,,,,-1;FOXM1,non_coding_transcript_exon_variant,,ENST00000536066,,n.169G>A,MODIFIER,,,,-1;FOXM1,non_coding_transcript_exon_variant,,ENST00000366362,,n.25G>A,MODIFIER,,,,-1;FOXM1,downstream_gene_variant,,ENST00000545049,,,MODIFIER,,,,-1	T	ENST00000359843	Transcript	missense_variant	missense_variant	1156/3315	1087/2292	363/763	A/T	Gca/Aca	rs774372195	1		-1	FOXM1	HGNC	HGNC:3818	protein_coding		CCDS8515.1	ENSP00000352901	Q08050	Q53Y49	UPI000012ADE4	NM_021953.3	tolerated(0.12)	benign(0.02)	7/9																			MODERATE		SNV	1			1	1.647e-05	1.647e-05	0	0	0	0	2.997e-05	0	0		PASS	ACGTGCGCCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	2864686	2864686	C	T	1	0	0	0	0	1	0	0	0	5882	782	27	2		2	FOXM1	12	2864686	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	254061	2864686	130410623	294	1467											
KCNA5	3741	BI	GRCh38	chr12	5045137	5045137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcatcgtggagaccacGtgcgtcatctggttcacctt	9	12	5	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.990G>A	p.=	p.T330T	ENST00000252321	1/1	74	67	7	98			KCNA5,synonymous_variant,p.T330T,ENST00000252321,NM_002234.3,c.990G>A,LOW,YES,,,1	A	ENST00000252321	Transcript	synonymous_variant	synonymous_variant	1149/2800	990/1842	330/613	T	acG/acA		1		1	KCNA5	HGNC	HGNC:6224	protein_coding	YES	CCDS8536.1	ENSP00000252321	P22460		UPI000013CD56	NM_002234.3			1/1		Pfam_domain:PF00520;Prints_domain:PR00169;Superfamily_domains:SSF81324																	LOW	1	SNV				1											PASS	ACCACGTGCGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	5045137	5045137	G	A	1	0	0	0	0	0	0	0	1	7922	1132	40	1		1	KCNA5	12	5045137	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2180451	5045137	128230172	295	1468											
ATF7IP	55729	BI	GRCh38	chr12	14497771	14497771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacttgaagttagcacgcGttcagagtcaaaatggcata	9	9	2	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3511G>A	p.Val1171Ile	p.V1171I	ENST00000261168	15/15	45	23	22	38			ATF7IP,missense_variant,p.V1171I,ENST00000261168,NM_018179.4,c.3511G>A,MODERATE,,deleterious_low_confidence(0.03),unknown(0),1;ATF7IP,missense_variant,p.V1170I,ENST00000536444,NM_001286514.1,c.3508G>A,MODERATE,,,unknown(0),1;ATF7IP,missense_variant,p.V1179I,ENST00000544627,NM_181352.1,c.3535G>A,MODERATE,YES,deleterious_low_confidence(0.03),unknown(0),1;ATF7IP,missense_variant,p.V1171I,ENST00000540793,,c.3511G>A,MODERATE,,deleterious_low_confidence(0.03),unknown(0),1	A	ENST00000261168	Transcript	missense_variant	missense_variant	3714/8878	3511/3813	1171/1270	V/I	Gtt/Att		1		1	ATF7IP	HGNC	HGNC:20092	protein_coding		CCDS8663.1	ENSP00000261168	Q6VMQ6	A0A024RAY1	UPI00001FB6B1	NM_018179.4	deleterious_low_confidence(0.03)	unknown(0)	15/15		PROSITE_profiles:PS50853;Superfamily_domains:SSF49265																	MODERATE		SNV	5			1											PASS	CACGCGTTCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	14497771	14497771	G	A	1	0	0	0	0	1	0	0	0	1236	1145	40	1		1	ATF7IP	12	14497771	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	9452634	14497771	118777538	296	1469											
TMTC1	83857	BI	GRCh38	chr12	29518477	29518477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagggaactttaccgcttGtaccattcttcagccatgct	8	11	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2019C>T	p.=	p.Y673Y	ENST00000539277	13/18	117	61	56	121			TMTC1,synonymous_variant,p.Y565Y,ENST00000256062,NM_175861.3,c.1695C>T,LOW,,,,-1;TMTC1,synonymous_variant,p.Y735Y,ENST00000551659,,c.2205C>T,LOW,,,,-1;TMTC1,synonymous_variant,p.Y697Y,ENST00000552618,,c.2091C>T,LOW,,,,-1;TMTC1,synonymous_variant,p.Y673Y,ENST00000539277,NM_001193451.1,c.2019C>T,LOW,YES,,,-1;RP11-310I24.1,upstream_gene_variant,,ENST00000549070,,,MODIFIER,YES,,,1;TMTC1,splice_region_variant,,ENST00000552925,,n.364+4C>T,LOW,,,,-1;TMTC1,non_coding_transcript_exon_variant,,ENST00000319685,,n.1760C>T,MODIFIER,,,,-1	A	ENST00000539277	Transcript	synonymous_variant	synonymous_variant	2078/2758	2019/2649	673/882	Y	taC/taT		1		-1	TMTC1	HGNC	HGNC:24099	protein_coding	YES	CCDS53772.1	ENSP00000442046	Q8IUR5		UPI0001DD37FA	NM_001193451.1			13/18		PROSITE_profiles:PS50293;SMART_domains:SM00028;Superfamily_domains:SSF48452																	LOW	1	SNV	1			1											PASS	CGCTTGTACCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	29518477	29518477	G	A	1	0	0	0	0	0	0	0	1	16734	1391	48	3		3	TMTC1	12	29518477	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15020706	29518477	103756832	297	1470											
BICD1	636	BI	GRCh38	chr12	32327564	32327564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcatgagcgggtgcaccGgctcacagagcacgtcaatg	14	12	2	2	rs199625504	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1109G>A	p.Arg370Gln	p.R370Q	ENST00000281474	5/10	16	10	6	29			BICD1,missense_variant,p.R370Q,ENST00000548411,NM_001003398.1,c.1109G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.546),1;BICD1,missense_variant,p.R370Q,ENST00000281474,NM_001714.2,c.1109G>A,MODERATE,YES,tolerated(0.18),benign(0.02),1;BICD1,upstream_gene_variant,,ENST00000547680,,,MODIFIER,,,,1;BICD1,missense_variant,p.R370Q,ENST00000395758,,c.1109G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.675),1	A	ENST00000281474	Transcript	missense_variant	missense_variant	1212/3281	1109/2928	370/975	R/Q	cGg/cAg	rs199625504	1		1	BICD1	HGNC	HGNC:1049	protein_coding	YES	CCDS8726.1	ENSP00000281474	Q96G01		UPI00001AEA67	NM_001714.2	tolerated(0.18)	benign(0.02)	5/10		Pfam_domain:PF09730																	MODERATE	1	SNV	1			1	1.647e-05	1.653e-05	0	0	0	0	1.503e-05	0	6.07e-05		PASS	GCACCGGCTCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	32327564	32327564	G	A	1	0	0	0	0	1	0	0	0	1577	1116	39	2		2	BICD1	12	32327564	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2809087	32327564	100947745	298	1471											
CNTN1	1272	BI	GRCh38	chr12	41027930	41027930	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataatcacctgggatcatgtCgttgcactatcaaatgaatc	7	9	3	1	rs758326489	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2784C>T	p.=	p.V928V	ENST00000347616	21/23	48	38	10	67			CNTN1,synonymous_variant,p.V928V,ENST00000551295,NM_001843.3,c.2784C>T,LOW,YES,,,1;CNTN1,synonymous_variant,p.V928V,ENST00000347616,,c.2784C>T,LOW,,,,1;CNTN1,synonymous_variant,p.V917V,ENST00000348761,NM_175038.2,c.2751C>T,LOW,,,,1;CNTN1,downstream_gene_variant,,ENST00000550305,,,MODIFIER,,,,1;CNTN1,upstream_gene_variant,,ENST00000548481,,,MODIFIER,,,,1	T	ENST00000347616	Transcript	synonymous_variant	synonymous_variant	2863/5507	2784/3057	928/1018	V	gtC/gtT	rs758326489	1		1	CNTN1	HGNC	HGNC:2171	protein_coding		CCDS8737.1	ENSP00000325660	Q12860	A0A024R104	UPI0000127EBA				21/23		PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	LOW		SNV	1			1	1.647e-05	1.649e-05	0	0	0.0001157	0	1.5e-05	0	0		PASS	CATGTCGTTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	41027930	41027930	C	T	1	0	0	0	0	0	0	0	1	3421	871	31	2		2	CNTN1	12	41027930	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8700366	41027930	92247379	299	1472											
KMT2D	8085	BI	GRCh38	chr12	49040001	49040001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggccccagggggctgcccGatgggtggaagttccctgtg	18	11	0	0	rs760007799	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7769C>T	p.Ser2590Leu	p.S2590L	ENST00000301067	31/54	11	8	3	18			KMT2D,missense_variant,p.S2590L,ENST00000301067,NM_003482.3,c.7769C>T,MODERATE,YES,,benign(0.023),-1;KMT2D,upstream_gene_variant,,ENST00000549743,,,MODIFIER,,,,-1;KMT2D,upstream_gene_variant,,ENST00000549799,,,MODIFIER,,,,-1;KMT2D,downstream_gene_variant,,ENST00000550356,,,MODIFIER,,,,-1	A	ENST00000301067	Transcript	missense_variant	missense_variant	7769/19419	7769/16614	2590/5537	S/L	tCg/tTg	rs760007799	1		-1	KMT2D	HGNC	HGNC:7133	protein_coding	YES	CCDS44873.1	ENSP00000301067	O14686		UPI0000EE84D6	NM_003482.3		benign(0.023)	31/54		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50099																	MODERATE	1	SNV	5			1	3.31e-05	3.417e-05	0	0	0	0	1.547e-05	0	0.0001841		PASS	TGCCCGATGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5349807;COSM5349808	True	Unknown	A	3	1	80	49040001	49040001	G	A	1	0	0	0	0	1	0	0	0	8298	1059	37	2		2	KMT2D	12	49040001	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8012071	49040001	84235308	300	1473											
NCKAP5L	57701	BI	GRCh38	chr12	49795013	49795013	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttgacttccctccggagCggggagcccccgccagcccc	11	19	1	1	rs763424318		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2847G>A	p.=	p.P949P	ENST00000335999	8/13	26	23	3	20			NCKAP5L,synonymous_variant,p.P949P,ENST00000335999,NM_001037806.3,c.2847G>A,LOW,YES,,,-1;NCKAP5L,synonymous_variant,p.P664P,ENST00000433948,,c.1990G>A,LOW,,,,-1	T	ENST00000335999	Transcript	synonymous_variant	synonymous_variant	3049/4900	2847/4005	949/1334	P	ccG/ccA	rs763424318	1		-1	NCKAP5L	HGNC	HGNC:29321	protein_coding	YES	CCDS41781.2	ENSP00000337998	Q9HCH0			NM_001037806.3			8/13																			LOW	1	SNV	5			1											PASS	CGGAGCGGGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5051657;COSM5051658	True	Unknown	T	2	4	80	49795013	49795013	C	T	1	0	0	0	0	0	0	0	1	10242	755	27	2		2	NCKAP5L	12	49795013	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	755012	49795013	83480296	301	1474											
ITGA5	3678	BI	GRCh38	chr12	54405675	54405675	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accactcacccgtccccattGacgtctgtggcggccactgc	9	18	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1005C>T	p.=	p.V335V	ENST00000293379	11/30	72	27	45	81			ITGA5,synonymous_variant,p.V335V,ENST00000293379,NM_002205.2,c.1005C>T,LOW,YES,,,-1;RP11-753H16.3,intron_variant,,ENST00000550474,,n.48-22182G>A,MODIFIER,YES,,,1;RP11-753H16.5,intron_variant,,ENST00000552785,,n.106-1722G>A,MODIFIER,YES,,,1;ITGA5,3_prime_UTR_variant,,ENST00000435631,,c.*460C>T,MODIFIER,,,,-1;ITGA5,3_prime_UTR_variant,,ENST00000553071,,c.*460C>T,MODIFIER,,,,-1;ITGA5,non_coding_transcript_exon_variant,,ENST00000552564,,n.289C>T,MODIFIER,,,,-1;ITGA5,upstream_gene_variant,,ENST00000552387,,,MODIFIER,,,,-1;ITGA5,upstream_gene_variant,,ENST00000550141,,,MODIFIER,,,,-1;ITGA5,upstream_gene_variant,,ENST00000552583,,,MODIFIER,,,,-1;ITGA5,upstream_gene_variant,,ENST00000551861,,,MODIFIER,,,,-1;ITGA5,upstream_gene_variant,,ENST00000551564,,,MODIFIER,,,,-1	A	ENST00000293379	Transcript	synonymous_variant	synonymous_variant	1267/4444	1005/3150	335/1049	V	gtC/gtT		1		-1	ITGA5	HGNC	HGNC:6141	protein_coding	YES	CCDS8880.1	ENSP00000293379	P08648			NM_002205.2			11/30		Pfam_domain:PF01839;Prints_domain:PR01185;SMART_domains:SM00191;Superfamily_domains:SSF69318																	LOW	1	SNV	1			1											PASS	CCATTGACGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	54405675	54405675	G	A	1	0	0	0	0	0	0	0	1	7786	1277	45	3		3	ITGA5	12	54405675	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4610662	54405675	78869634	302	1475											
AGAP2	116986	BI	GRCh38	chr12	57731454	57731454	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgttcaaggaattgccacttCgttttagtaggaagctctgg	11	7	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2057G>A	p.Arg686Gln	p.R686Q	ENST00000547588	10/19	70	42	28	81			AGAP2,missense_variant,p.R350Q,ENST00000257897,NM_014770.3,c.1049G>A,MODERATE,,deleterious(0),possibly_damaging(0.889),-1;AGAP2,missense_variant,p.R550Q,ENST00000328568,,c.1647G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.889),-1;AGAP2,missense_variant,p.R686Q,ENST00000547588,NM_001122772.2,c.2057G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.982),-1;AGAP2,missense_variant,p.R42Q,ENST00000549129,,c.125G>A,MODERATE,,deleterious(0),probably_damaging(0.997),-1;AGAP2-AS1,downstream_gene_variant,,ENST00000542466,,,MODIFIER,YES,,,1	T	ENST00000547588	Transcript	missense_variant	missense_variant	2057/3579	2057/3579	686/1192	R/Q	cGa/cAa		1		-1	AGAP2	HGNC	HGNC:16921	protein_coding	YES	CCDS44932.1	ENSP00000449241		F8VVT9	UPI00001AF80C	NM_001122772.2	deleterious(0.01)	probably_damaging(0.982)	10/19		Pfam_domain:PF00169;PROSITE_profiles:PS50003;SMART_domains:SM00233;Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1											PASS	CACTTCGTTTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4534178;COSM4534179	True	Unknown	T	3	4	80	57731454	57731454	C	T	1	0	0	0	0	1	0	0	0	445	884	31	2		2	AGAP2	12	57731454	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3325779	57731454	75543855	303	1476											
CYP27B1	1594	BI	GRCh38	chr12	57763738	57763738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccccagccagcgagctggaCgaaaagaatttggctctggg	13	12	1	1	rs568165874	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1286G>A	p.Arg429His	p.R429H	ENST00000228606	8/9	48	45	3	74			CYP27B1,missense_variant,p.R429H,ENST00000228606,NM_000785.3,c.1286G>A,MODERATE,YES,tolerated(0.56),benign(0.007),-1;MARCH9,downstream_gene_variant,,ENST00000266643,NM_138396.5,,MODIFIER,YES,,,1;METTL1,downstream_gene_variant,,ENST00000324871,NM_005371.5,,MODIFIER,YES,,,-1;MARCH9,downstream_gene_variant,,ENST00000548358,,,MODIFIER,,,,1;METTL1,downstream_gene_variant,,ENST00000257848,NM_023033.3,,MODIFIER,,,,-1;CYP27B1,downstream_gene_variant,,ENST00000546567,,,MODIFIER,,,,-1;METTL1,downstream_gene_variant,,ENST00000547653,,,MODIFIER,,,,-1;CYP27B1,downstream_gene_variant,,ENST00000546609,,,MODIFIER,,,,-1;CYP27B1,downstream_gene_variant,,ENST00000546496,,,MODIFIER,,,,-1;CYP27B1,non_coding_transcript_exon_variant,,ENST00000547344,,n.1425G>A,MODIFIER,,,,-1;CYP27B1,downstream_gene_variant,,ENST00000547451,,,MODIFIER,,,,-1;CYP27B1,downstream_gene_variant,,ENST00000552186,,,MODIFIER,,,,-1	T	ENST00000228606	Transcript	missense_variant	missense_variant	1496/2540	1286/1527	429/508	R/H	cGt/cAt	rs568165874	1		-1	CYP27B1	HGNC	HGNC:2606	protein_coding	YES	CCDS8954.1	ENSP00000228606	O15528		UPI000000D77F	NM_000785.3	tolerated(0.56)	benign(0.007)	8/9		Pfam_domain:PF00067;Prints_domain:PR00463;Prints_domain:PR00465;Prints_domain:PR00359;Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1	0.0001235	0.0001238	0	8.643e-05	0.0001156	0	0.0001653	0	0.0001211		PASS	CTGGACGAAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	57763738	57763738	C	T	1	0	0	0	0	1	0	0	0	3962	536	19	1		1	CYP27B1	12	57763738	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	32284	57763738	75511571	304	1477											
MSRB3	253827	BI	GRCh38	chr12	65463286	65463286	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgagggaggcagtggggtCgccagcccggcccaggcaga	19	13	0	1	rs370488628	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.543C>T	p.=	p.V181V	ENST00000355192	6/6	59	52	7	43			MSRB3,synonymous_variant,p.V174V,ENST00000308259,NM_001031679.2&NM_001193460.1,c.522C>T,LOW,,,,1;MSRB3,synonymous_variant,p.V181V,ENST00000355192,NM_198080.3,c.543C>T,LOW,YES,,,1;MSRB3,synonymous_variant,p.V174V,ENST00000614640,NM_001193461.1,c.522C>T,LOW,,,,1;MSRB3,synonymous_variant,p.V174V,ENST00000535664,,c.522C>T,LOW,,,,1;MSRB3,intron_variant,,ENST00000541189,,c.436+9461C>T,MODIFIER,,,,1;MSRB3,intron_variant,,ENST00000446731,,c.265+9461C>T,MODIFIER,,,,1;MSRB3,downstream_gene_variant,,ENST00000535239,,,MODIFIER,,,,1;RP11-230G5.2,downstream_gene_variant,,ENST00000537250,,,MODIFIER,,,,-1;MSRB3,non_coding_transcript_exon_variant,,ENST00000535143,,n.361C>T,MODIFIER,,,,1;MSRB3,downstream_gene_variant,,ENST00000541897,,,MODIFIER,,,,1	T	ENST00000355192	Transcript	synonymous_variant	synonymous_variant	669/4289	543/579	181/192	V	gtC/gtT	rs370488628	1		1	MSRB3	HGNC	HGNC:27375	protein_coding	YES	CCDS8973.1	ENSP00000347324	Q8IXL7		UPI0000051E32	NM_198080.3			6/6																			LOW	1	SNV	1			1	2.471e-05	2.475e-05	0	8.649e-05	0	0	1.501e-05	0	6.057e-05		PASS	GGGGTCGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	65463286	65463286	C	T	1	0	0	0	0	0	0	0	1	9873	871	31	2		2	MSRB3	12	65463286	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7699548	65463286	67812023	305	1478											
TBC1D15	64786	BI	GRCh38	chr12	71894789	71894789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatccctctacacatcaacGaccaccttcagaaatggcag	6	15	3	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.812G>A	p.Arg271Gln	p.R271Q	ENST00000550746	8/18	68	36	32	93			TBC1D15,missense_variant,p.R271Q,ENST00000550746,NM_022771.4,c.812G>A,MODERATE,YES,deleterious(0.04),probably_damaging(0.946),1;TBC1D15,missense_variant,p.R254Q,ENST00000485960,NM_001146213.1,c.761G>A,MODERATE,,deleterious(0.04),probably_damaging(0.945),1;TBC1D15,missense_variant,p.R262Q,ENST00000319106,NM_001146214.1,c.785G>A,MODERATE,,deleterious(0.03),probably_damaging(0.96),1;TBC1D15,missense_variant,p.R155Q,ENST00000491063,,c.464G>A,MODERATE,,tolerated(0.06),probably_damaging(0.97),1;TBC1D15,downstream_gene_variant,,ENST00000482439,,,MODIFIER,,,,1;TBC1D15,upstream_gene_variant,,ENST00000548679,,,MODIFIER,,,,1;TBC1D15,downstream_gene_variant,,ENST00000549402,,,MODIFIER,,,,1;TBC1D15,downstream_gene_variant,,ENST00000474468,,,MODIFIER,,,,1;TBC1D15,3_prime_UTR_variant,,ENST00000462788,,c.*175G>A,MODIFIER,,,,1;TBC1D15,upstream_gene_variant,,ENST00000479971,,,MODIFIER,,,,1;TBC1D15,upstream_gene_variant,,ENST00000483828,,,MODIFIER,,,,1;TBC1D15,downstream_gene_variant,,ENST00000472611,,,MODIFIER,,,,1;TBC1D15,downstream_gene_variant,,ENST00000468049,,,MODIFIER,,,,1	A	ENST00000550746	Transcript	missense_variant	missense_variant	876/6184	812/2076	271/691	R/Q	cGa/cAa		1		1	TBC1D15	HGNC	HGNC:25694	protein_coding	YES	CCDS31858.1	ENSP00000448182	Q8TC07			NM_022771.4	deleterious(0.04)	probably_damaging(0.946)	8/18																			MODERATE	1	SNV	1			1											PASS	TCAACGACCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	71894789	71894789	G	A	1	0	0	0	0	1	0	0	0	16004	1058	37	2		2	TBC1D15	12	71894789	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6431503	71894789	61380520	306	1479											
E2F7	144455	BI	GRCh38	chr12	77024071	77024071	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccgagctggtgtttcGtgactggttcctttctcttc	12	11	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2680C>T	p.Arg894Ter	p.R894*	ENST00000322886	13/13	101	77	24	133			E2F7,stop_gained,p.R894*,ENST00000322886,NM_203394.2,c.2680C>T,HIGH,YES,,,-1;E2F7,3_prime_UTR_variant,,ENST00000416496,,c.*68C>T,MODIFIER,,,,-1;E2F7,downstream_gene_variant,,ENST00000550669,,,MODIFIER,,,,-1	A	ENST00000322886	Transcript	stop_gained	stop_gained	2916/5740	2680/2736	894/911	R/*	Cga/Tga		1		-1	E2F7	HGNC	HGNC:23820	protein_coding	YES	CCDS9016.1	ENSP00000323246	Q96AV8			NM_203394.2			13/13																			HIGH	1	SNV	1			1											PASS	GTTTCGTGACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	77024071	77024071	G	A	1	0	0	0	0	0	1	0	0	4696	1153	40	1		1	E2F7	12	77024071	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5129282	77024071	56251238	307	1480											
TMTC3	160418	BI	GRCh38	chr12	88172668	88172668	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttggatttgttgttgcCgagcgagtattatatgttcc	11	7	0	0	rs376400054	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1122C>T	p.=	p.A374A	ENST00000266712	8/14	101	75	26	128			TMTC3,synonymous_variant,p.A374A,ENST00000266712,NM_181783.3,c.1122C>T,LOW,YES,,,1;TMTC3,synonymous_variant,p.A374A,ENST00000547034,,c.1122C>T,LOW,,,,1	T	ENST00000266712	Transcript	synonymous_variant	synonymous_variant	1342/7203	1122/2745	374/914	A	gcC/gcT	rs376400054	1		1	TMTC3	HGNC	HGNC:26899	protein_coding	YES	CCDS9032.1	ENSP00000266712	Q6ZXV5		UPI000004D255	NM_181783.3			8/14			2e-04	0	0		0.001	0	0	0	1e-04								LOW	1	SNV	1			1	3.295e-05	3.302e-05	0	0	0.0001157	0	1.5e-05	0	0.0001212		PASS	GTTGCCGAGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5342237	True	Unknown	T	2	4	80	88172668	88172668	C	T	1	0	0	0	0	0	0	0	1	16736	639	23	2		2	TMTC3	12	88172668	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11148597	88172668	45102641	308	1481											
CCER1	196477	BI	GRCh38	chr12	90954591	90954591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggggctatatcggtgcGgtctattgtacgctggagca	14	8	2	0	rs146867450		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.152C>T	p.Pro51Leu	p.P51L	ENST00000358859	1/1	36	32	4	28			CCER1,missense_variant,p.P51L,ENST00000358859,NM_152638.2,c.152C>T,MODERATE,YES,tolerated(0.06),benign(0.051),-1;CCER1,intron_variant,,ENST00000548187,,n.52+532C>T,MODIFIER,,,,-1;CCER1,upstream_gene_variant,,ENST00000549707,,,MODIFIER,,,,-1	A	ENST00000358859	Transcript	missense_variant	missense_variant	586/2962	152/1221	51/406	P/L	cCg/cTg	rs146867450	1		-1	CCER1	HGNC	HGNC:28373	protein_coding	YES	CCDS9036.1	ENSP00000351727	Q8TC90		UPI000006EE70	NM_152638.2	tolerated(0.06)	benign(0.051)	1/1										2e-04	0								MODERATE	1	SNV				1											PASS	GGTGCGGTCTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5629515	True	Unknown	A	3	1	80	90954591	90954591	G	A	1	0	0	0	0	1	0	0	0	2574	1116	39	2		2	CCER1	12	90954591	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2781923	90954591	42320718	309	1482											
ULK1	8408	BI	GRCh38	chr12	131911950	131911950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgactctcagtccctgggCgagatgcagcagctgcagaa	13	11	1	3	rs756270836		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.957C>T	p.=	p.G319G	ENST00000321867	13/28	30	14	16	55			ULK1,synonymous_variant,p.G319G,ENST00000321867,NM_003565.2,c.957C>T,LOW,YES,,,1;ULK1,upstream_gene_variant,,ENST00000541761,,,MODIFIER,,,,1;ULK1,downstream_gene_variant,,ENST00000537421,,,MODIFIER,,,,1;ULK1,downstream_gene_variant,,ENST00000542313,,,MODIFIER,,,,1	T	ENST00000321867	Transcript	synonymous_variant	synonymous_variant	1308/5310	957/3153	319/1050	G	ggC/ggT	rs756270836	1		1	ULK1	HGNC	HGNC:12558	protein_coding	YES	CCDS9274.1	ENSP00000324560	O75385		UPI00001FB0D9	NM_003565.2			13/28		PROSITE_profiles:PS50324;Superfamily_domains:SSF56112;PIRSF_domain:PIRSF000580																	LOW	1	SNV	1			1	8.25e-06	8.423e-06	0	0	0	0	0	0	6.059e-05		PASS	CTGGGCGAGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	131911950	131911950	C	T	1	0	0	0	0	0	0	0	1	17499	755	27	2		2	ULK1	12	131911950	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	40957359	131911950	1363359	310	1483											
FRY	10129	BI	GRCh38	chr13	32225938	32225938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagctaagactctaaccGtgcagccagcctaccaacct	8	14	1	2	rs61946739	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5170G>A	p.Val1724Met	p.V1724M	ENST00000542859	39/61	41	11	30	58			FRY,missense_variant,p.V1724M,ENST00000542859,NM_023037.2,c.5170G>A,MODERATE,YES,tolerated(0.07),benign(0.006),1;FRY,missense_variant,p.V1723M,ENST00000380250,,c.5167G>A,MODERATE,,tolerated(0.09),benign(0.024),1	A	ENST00000542859	Transcript	missense_variant	missense_variant	5666/13200	5170/9042	1724/3013	V/M	Gtg/Atg	rs61946739	1		1	FRY	HGNC	HGNC:20367	protein_coding	YES	CCDS41875.1	ENSP00000445043	Q5TBA9		UPI000046FD40	NM_023037.2	tolerated(0.07)	benign(0.006)	39/61			2e-04	8e-04	0		0	0	0	0	5e-04								MODERATE	1	SNV	5			1	0.0004301	0.0004307	0.0006121	8.643e-05	0	0.002873	0.0003896	0	0		panel_of_normals	TAACCGTGCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM50614	True	Unknown	A	3	1	80	32225938	32225938	G	A	1	0	0	0	0	1	0	0	0	5935	1145	40	1		1	FRY	13	32225938	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		32225938	82138390	311	1484											
KL	9365	BI	GRCh38	chr13	33061581	33061581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaagtgcaagaaatgacCgacatcacgtggctcaactc	9	11	2	3	rs147748913	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2502C>T	p.=	p.T834T	ENST00000380099	4/5	47	44	3	74			KL,synonymous_variant,p.T834T,ENST00000380099,NM_004795.3,c.2502C>T,LOW,YES,,,1;KL,non_coding_transcript_exon_variant,,ENST00000487852,,n.2560C>T,MODIFIER,,,,1	T	ENST00000380099	Transcript	synonymous_variant	synonymous_variant	2510/5006	2502/3039	834/1012	T	acC/acT	rs147748913	1		1	KL	HGNC	HGNC:6344	protein_coding	YES	CCDS9347.1	ENSP00000369442	Q9UEF7		UPI000013CEBA	NM_004795.3			4/5		Pfam_domain:PF00232;Superfamily_domains:SSF51445								0	2e-04								LOW	1	SNV	1			1	9.884e-05	9.884e-05	0	0	0.0002311	0	7.492e-05	0	0.0003028		PASS	ATGACCGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	33061581	33061581	C	T	1	0	0	0	0	0	0	0	1	8196	639	23	2		2	KL	13	33061581	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	835643	33061581	81302747	312	1485											
KL	9365	BI	GRCh38	chr13	33063877	33063877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggtatcaatctttgCggatactttgcttattcgtt	9	7	2	0	rs758010223	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2730C>T	p.=	p.C910C	ENST00000380099	5/5	145	113	32	195			KL,synonymous_variant,p.C910C,ENST00000380099,NM_004795.3,c.2730C>T,LOW,YES,,,1;KL,non_coding_transcript_exon_variant,,ENST00000487852,,n.2788C>T,MODIFIER,,,,1	T	ENST00000380099	Transcript	synonymous_variant	synonymous_variant	2738/5006	2730/3039	910/1012	C	tgC/tgT	rs758010223	1		1	KL	HGNC	HGNC:6344	protein_coding	YES	CCDS9347.1	ENSP00000369442	Q9UEF7		UPI000013CEBA	NM_004795.3			5/5		Pfam_domain:PF00232;Superfamily_domains:SSF51445																	LOW	1	SNV	1			1	3.295e-05	3.295e-05	0	0	0.0003467	0	0	0	6.057e-05		PASS	CTTTGCGGATA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	33063877	33063877	C	T	1	0	0	0	0	0	0	0	1	8196	776	27	2		2	KL	13	33063877	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2296	33063877	81300451	313	1486											
ZC3H13	23091	BI	GRCh38	chr13	46042217	46042217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctggggctcagtgtccaCgtcttggcgcttgttcttca	11	11	5	0	rs199682940	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.286G>A	p.Val96Met	p.V96M	ENST00000242848	4/19	99	90	9	87			ZC3H13,missense_variant,p.V96M,ENST00000242848,,c.286G>A,MODERATE,,,unknown(0),-1;ZC3H13,missense_variant,p.V96M,ENST00000282007,NM_015070.4,c.286G>A,MODERATE,YES,,unknown(0),-1;ZC3H13,missense_variant,p.V96M,ENST00000428921,,c.286G>A,MODERATE,,deleterious_low_confidence(0.03),benign(0.173),-1	T	ENST00000242848	Transcript	missense_variant	missense_variant	635/8018	286/5007	96/1668	V/M	Gtg/Atg	rs199682940	1		-1	ZC3H13	HGNC	HGNC:20368	protein_coding			ENSP00000242848	Q5T200		UPI000046F8EB			unknown(0)	4/19																			MODERATE		SNV	5			1	8.236e-06	8.239e-06	0	0	0	0	0	0	6.058e-05		PASS	GTCCACGTCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	46042217	46042217	C	T	1	0	0	0	0	1	0	0	0	18140	536	19	1		1	ZC3H13	13	46042217	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12978340	46042217	68322111	314	1487											
THSD1	55901	BI	GRCh38	chr13	52378534	52378534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggcccgtctcccccatccGagaagctcccgcgctgctcg	11	19	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1436C>T	p.Ser479Leu	p.S479L	ENST00000258613	5/5	34	22	12	44			THSD1,missense_variant,p.S426L,ENST00000349258,NM_199263.2,c.1277C>T,MODERATE,,deleterious(0),probably_damaging(0.999),-1;THSD1,missense_variant,p.S479L,ENST00000258613,NM_018676.3,c.1436C>T,MODERATE,YES,deleterious(0),benign(0.304),-1	A	ENST00000258613	Transcript	missense_variant	missense_variant	1615/2962	1436/2559	479/852	S/L	tCg/tTg		1		-1	THSD1	HGNC	HGNC:17754	protein_coding	YES	CCDS9432.1	ENSP00000258613	Q9NS62	A0A024R064		NM_018676.3	deleterious(0)	benign(0.304)	5/5		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CATCCGAGAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	52378534	52378534	G	A	1	0	0	0	0	1	0	0	0	16311	1059	37	2		2	THSD1	13	52378534	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6336317	52378534	61985794	315	1488											
RNF113B	140432	BI	GRCh38	chr13	98177204	98177204	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacctggtctgcttggtcGgccgtccttcctggagaagg	13	12	1	1	rs754829186	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.33C>T	p.=	p.A11A	ENST00000267291	1/2	39	30	9	34			RNF113B,synonymous_variant,p.A11A,ENST00000267291,NM_178861.4,c.33C>T,LOW,YES,,,-1;FARP1,intron_variant,,ENST00000319562,NM_005766.3,c.-24+33712G>A,MODIFIER,,,,1;FARP1,intron_variant,,ENST00000627049,,c.-24+33712G>A,MODIFIER,YES,,,1;FARP1,intron_variant,,ENST00000595437,NM_001286839.1,c.-24+34427G>A,MODIFIER,,,,1;FARP1,intron_variant,,ENST00000376581,NM_001001715.3,c.-24+33712G>A,MODIFIER,,,,1;FARP1,upstream_gene_variant,,ENST00000598389,,,MODIFIER,,,,1;FARP1,intron_variant,,ENST00000600648,,n.420+17606G>A,MODIFIER,,,,1	A	ENST00000267291	Transcript	synonymous_variant	synonymous_variant	62/1376	33/969	11/322	A	gcC/gcT	rs754829186	1		-1	RNF113B	HGNC	HGNC:17267	protein_coding	YES	CCDS9486.1	ENSP00000267291	Q8IZP6		UPI000006F203	NM_178861.4			1/2																			LOW	1	SNV	1			1	1.648e-05	0	0	0	0	0	0	0	0		PASS	TGGTCGGCCGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	98177204	98177204	G	A	1	0	0	0	0	0	0	0	1	13606	1103	39	2		2	RNF113B	13	98177204	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	45798670	98177204	16187124	316	1489											
COL4A1	1282	BI	GRCh38	chr13	110152429	110152429	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgacactcgatgaatggCgcacttctaaactcctccag	8	14	1	2	rs771624014	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.4833G>A	p.=	p.A1611A	ENST00000375820	51/52	70	41	29	112			COL4A1,synonymous_variant,p.A1611A,ENST00000375820,NM_001845.4,c.4833G>A,LOW,YES,,,-1	T	ENST00000375820	Transcript	synonymous_variant	synonymous_variant	4955/6532	4833/5010	1611/1669	A	gcG/gcA	rs771624014	1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.4			51/52		Pfam_domain:PF01413;SMART_domains:SM00111;Superfamily_domains:SSF56436																	LOW	1	SNV	1			1	1.647e-05	1.657e-05	0	0	0	0	1.507e-05	0	6.111e-05		PASS	AATGGCGCACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM945322;COSM945323	True	Unknown	T	2	4	80	110152429	110152429	C	T	1	0	0	0	0	0	0	0	1	3478	755	27	2		2	COL4A1	13	110152429	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	11975225	110152429	4211899	317	1490											
COL4A1	1282	BI	GRCh38	chr13	110210038	110210038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccctggcagtcctggtGggccctagaatgcatgagaa	14	10	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.557C>T	p.Pro186Leu	p.P186L	ENST00000375820	10/52	32	14	18	31			COL4A1,missense_variant,p.P186L,ENST00000375820,NM_001845.4,c.557C>T,MODERATE,YES,,benign(0.051),-1;COL4A1,missense_variant,p.P186L,ENST00000543140,NM_001303110.1,c.557C>T,MODERATE,,,benign(0.003),-1;COL4A1,missense_variant,p.P122L,ENST00000615732,,c.365C>T,MODERATE,,tolerated(0.16),benign(0.04),-1	A	ENST00000375820	Transcript	missense_variant	missense_variant	679/6532	557/5010	186/1669	P/L	cCa/cTa		1		-1	COL4A1	HGNC	HGNC:2202	protein_coding	YES	CCDS9511.1	ENSP00000364979	P02462		UPI000004981D	NM_001845.4		benign(0.051)	10/52		Low_complexity_(Seg):Seg;Pfam_domain:PF01391;PROSITE_profiles:PS50315;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CTGGTGGGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	110210038	110210038	G	A	1	0	0	0	0	1	0	0	0	3478	1362	47	3		3	COL4A1	13	110210038	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	57609	110210038	4154290	318	1491											
F7	2155	BI	GRCh38	chr13	113118613	113118613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaggacgctggccttcGtgcgcttctcattggtcagc	13	12	2	1	rs374305125	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1006G>A	p.Val336Met	p.V336M	ENST00000375581	9/9	27	19	8	30			F7,missense_variant,p.V336M,ENST00000375581,NM_000131.4,c.1006G>A,MODERATE,YES,tolerated(0.05),possibly_damaging(0.755),1;F7,missense_variant,p.V252M,ENST00000541084,NM_001267554.1,c.754G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.563),1;F7,missense_variant,p.V314M,ENST00000346342,NM_019616.3,c.940G>A,MODERATE,,deleterious(0.03),possibly_damaging(0.641),1;F10,upstream_gene_variant,,ENST00000375559,NM_000504.3,,MODIFIER,YES,,,1;F10,upstream_gene_variant,,ENST00000375551,,,MODIFIER,,,,1;F10,upstream_gene_variant,,ENST00000409306,,,MODIFIER,,,,1;F10,upstream_gene_variant,,ENST00000483537,,,MODIFIER,,,,1;F7,downstream_gene_variant,,ENST00000473085,,,MODIFIER,,,,1;F10,upstream_gene_variant,,ENST00000410083,,,MODIFIER,,,,1;F10,upstream_gene_variant,,ENST00000477269,,,MODIFIER,,,,1;F7,downstream_gene_variant,,ENST00000479674,,,MODIFIER,,,,1;F7,downstream_gene_variant,,ENST00000444337,,,MODIFIER,,,,1	A	ENST00000375581	Transcript	missense_variant	missense_variant	1041/3109	1006/1401	336/466	V/M	Gtg/Atg	rs374305125	1		1	F7	HGNC	HGNC:3544	protein_coding	YES	CCDS9528.1	ENSP00000364731	P08709		UPI000012A414	NM_000131.4	tolerated(0.05)	possibly_damaging(0.755)	9/9		Pfam_domain:PF00089;PROSITE_profiles:PS50240;SMART_domains:SM00020;Superfamily_domains:SSF50494;PIRSF_domain:PIRSF001143								2e-04	0								MODERATE	1	SNV	1			1	2.473e-05	1.685e-05	9.883e-05	0	0	0	0	0	6.072e-05		PASS	CCTTCGTGCGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2264072	True	Unknown	A	3	1	80	113118613	113118613	G	A	1	0	0	0	0	1	0	0	0	5217	1145	40	1		1	F7	13	113118613	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2908575	113118613	1245715	319	1492											
PSMB11	122706	BI	GRCh38	chr14	23042960	23042960	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatgcctgtgtgctgtaCgtggagttacagaagctcct	13	8	0	2	rs186544245	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.735C>T	p.=	p.Y245Y	ENST00000408907	1/1	31	27	4	28			PSMB11,synonymous_variant,p.Y245Y,ENST00000408907,NM_001099780.1,c.735C>T,LOW,YES,,,1;CDH24,downstream_gene_variant,,ENST00000397359,NM_022478.3,,MODIFIER,YES,,,-1;CDH24,downstream_gene_variant,,ENST00000487137,NM_144985.3,,MODIFIER,,,,-1;CDH24,downstream_gene_variant,,ENST00000267383,,,MODIFIER,,,,-1;CDH24,downstream_gene_variant,,ENST00000554034,,,MODIFIER,,,,-1;CDH24,downstream_gene_variant,,ENST00000610348,,,MODIFIER,,,,-1;CDH24,downstream_gene_variant,,ENST00000485922,,,MODIFIER,,,,-1	T	ENST00000408907	Transcript	synonymous_variant	synonymous_variant	794/2110	735/903	245/300	Y	taC/taT	rs186544245	1		1	PSMB11	HGNC	HGNC:31963	protein_coding	YES	CCDS41923.1	ENSP00000386212	A5LHX3		UPI00001D7B85	NM_001099780.1			1/1		Superfamily_domains:SSF56235	0.0014	0.0015	0		0.005	0	0	9e-04	0								LOW		SNV				1	0.0004451	0.0004519	0.001546	0.0003485	0.003368	0	6.053e-05	0	0.0001215		PASS	CTGTACGTGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	2	4	80	23042960	23042960	C	T	1	0	0	0	0	0	0	0	1	12827	547	19	1		1	PSMB11	14	23042960	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		23042960	84000758	320	1493											
IL25	64806	BI	GRCh38	chr14	23375833	23375833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggagcgcaggctgtacCgtgtttccttagcttgtgtg	14	10	0	0	rs767350854	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.487C>T	p.Arg163Cys	p.R163C	ENST00000329715	2/2	68	35	33	99			IL25,missense_variant,p.R163C,ENST00000329715,NM_022789.3,c.487C>T,MODERATE,YES,deleterious(0),probably_damaging(0.959),1;IL25,missense_variant,p.R147C,ENST00000397242,NM_172314.1,c.439C>T,MODERATE,,deleterious(0),possibly_damaging(0.901),1;CMTM5,upstream_gene_variant,,ENST00000359320,NM_138460.2,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000339180,NM_001288746.1,,MODIFIER,YES,,,1;CMTM5,upstream_gene_variant,,ENST00000555731,,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000397227,NM_001288744.1,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000342473,NM_001288745.1,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000382809,NM_001037288.1,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000553750,,,MODIFIER,,,,1;CMTM5,upstream_gene_variant,,ENST00000555487,,,MODIFIER,,,,1	T	ENST00000329715	Transcript	missense_variant	missense_variant	745/1315	487/534	163/177	R/C	Cgt/Tgt	rs767350854	1		1	IL25	HGNC	HGNC:13765	protein_coding	YES	CCDS9597.1	ENSP00000328111	Q9H293		UPI0000038A0A	NM_022789.3	deleterious(0)	probably_damaging(0.959)	2/2		Pfam_domain:PF06083;Superfamily_domains:SSF57501																	MODERATE	1	SNV	1			1	3.295e-05	3.295e-05	0	0	0	0	5.995e-05	0	0		panel_of_normals	TGTACCGTGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon	COSM4050024	True	Unknown	T	3	4	80	23375833	23375833	C	T	1	0	0	0	0	1	0	0	0	7581	652	23	2		2	IL25	14	23375833	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	332873	23375833	83667885	321	1494											
REC8	9985	BI	GRCh38	chr14	24172948	24172948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgcaacccccgcagcccGgcctgccgcggccccgcttc	12	21	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.175G>A	p.Gly59Ser	p.G59S	ENST00000611366	3/19	42	35	7	38			REC8,missense_variant,p.G59S,ENST00000620473,,c.175G>A,MODERATE,YES,tolerated(0.19),benign(0.302),1;REC8,missense_variant,p.G59S,ENST00000611366,NM_001048205.1&NM_005132.2,c.175G>A,MODERATE,,tolerated(0.19),benign(0.302),1;REC8,missense_variant,p.G59S,ENST00000557806,,c.175G>A,MODERATE,,deleterious(0.05),benign(0.302),1;REC8,5_prime_UTR_variant,,ENST00000560501,,c.-153G>A,MODIFIER,,,,1;REC8,non_coding_transcript_exon_variant,,ENST00000619469,,n.593G>A,MODIFIER,,,,1;REC8,non_coding_transcript_exon_variant,,ENST00000619284,,n.83G>A,MODIFIER,,,,1;REC8,non_coding_transcript_exon_variant,,ENST00000560032,,n.446G>A,MODIFIER,,,,1;REC8,upstream_gene_variant,,ENST00000619111,,,MODIFIER,,,,1;REC8,upstream_gene_variant,,ENST00000560823,,,MODIFIER,,,,1	A	ENST00000611366	Transcript	missense_variant	missense_variant	703/2331	175/1644	59/547	G/S	Ggc/Agc		1		1	REC8	HGNC	HGNC:16879	protein_coding		CCDS41932.1	ENSP00000482439	O95072		UPI00000700FD	NM_001048205.1;NM_005132.2	tolerated(0.19)	benign(0.302)	3/19		Pfam_domain:PF04825																	MODERATE		SNV	1			1											PASS	AGCCCGGCCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	24172948	24172948	G	A	1	0	0	0	0	1	0	0	0	13369	1116	39	2		2	REC8	14	24172948	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	797115	24172948	82870770	322	1495											
KIAA0586	9786	BI	GRCh38	chr14	58465939	58465939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcctgtgttacctcatggcGatcagcaatatttgttcagc	8	10	3	0	rs750671663	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2119G>A	p.Asp707Asn	p.D707N	ENST00000619416	16/32	70	62	8	78			KIAA0586,missense_variant,p.D707N,ENST00000619416,NM_001244190.1,c.2119G>A,MODERATE,,deleterious(0.05),probably_damaging(0.982),1;KIAA0586,missense_variant,p.D678N,ENST00000556134,,c.2032G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.63),1;KIAA0586,missense_variant,p.D637N,ENST00000619722,NM_001244191.1,c.1909G>A,MODERATE,,tolerated(0.07),probably_damaging(0.982),1;KIAA0586,missense_variant,p.D678N,ENST00000423743,NM_001244192.1,c.2032G>A,MODERATE,,deleterious(0.05),possibly_damaging(0.63),1;KIAA0586,missense_variant,p.D775N,ENST00000354386,NM_001244189.1,c.2323G>A,MODERATE,YES,tolerated(0.05),possibly_damaging(0.894),1;KIAA0586,missense_variant,p.D646N,ENST00000261244,NM_014749.3,c.1936G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.481),1;KIAA0586,non_coding_transcript_exon_variant,,ENST00000538571,,n.1754G>A,MODIFIER,,,,1;HSBP1P1,downstream_gene_variant,,ENST00000555205,,,MODIFIER,YES,,,1	A	ENST00000619416	Transcript	missense_variant	missense_variant	2393/8233	2119/4602	707/1533	D/N	Gat/Aat	rs750671663	1		1	KIAA0586	HGNC	HGNC:19960	protein_coding		CCDS58321.1	ENSP00000478083	Q9BVV6		UPI000013D14E	NM_001244190.1	deleterious(0.05)	probably_damaging(0.982)	16/32																			MODERATE		SNV	1			1	8.277e-05	8.283e-05	0	0	0	0.000756	7.495e-05	0	0		PASS	ATGGCGATCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	58465939	58465939	G	A	1	0	0	0	0	1	0	0	0	8089	1058	37	2		2	KIAA0586	14	58465939	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	34292991	58465939	48577779	323	1496											
PLEK2	26499	BI	GRCh38	chr14	67395491	67395491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgcatgaatagccccGgtgatctcaaaggcccaggc	11	14	1	2	rs758515238	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.300C>T	p.=	p.T100T	ENST00000216446	3/9	93	86	7	89			PLEK2,synonymous_variant,p.T100T,ENST00000216446,NM_016445.1,c.300C>T,LOW,YES,,,-1;PLEK2,synonymous_variant,p.T34T,ENST00000554395,,c.102C>T,LOW,,,,-1;PLEK2,upstream_gene_variant,,ENST00000556532,,,MODIFIER,,,,-1;PLEK2,downstream_gene_variant,,ENST00000557388,,,MODIFIER,,,,-1;PLEK2,synonymous_variant,p.T84T,ENST00000555803,,c.252C>T,LOW,,,,-1;PLEK2,intron_variant,,ENST00000553387,,c.207+2171C>T,MODIFIER,,,,-1	A	ENST00000216446	Transcript	synonymous_variant	synonymous_variant	441/1549	300/1062	100/353	T	acC/acT	rs758515238	1		-1	PLEK2	HGNC	HGNC:19238	protein_coding	YES	CCDS9782.1	ENSP00000216446	Q9NYT0		UPI0000035D89	NM_016445.1			3/9		PROSITE_profiles:PS50003;SMART_domains:SM00233;Superfamily_domains:SSF50729																	LOW	1	SNV	1			1	1.647e-05	1.649e-05	9.625e-05	0	0	0	1.5e-05	0	0		PASS	GCCCCGGTGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM163540	True	Unknown	A	2	1	80	67395491	67395491	G	A	1	0	0	0	0	0	0	0	1	12147	1103	39	2		2	PLEK2	14	67395491	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8929552	67395491	39648227	324	1497											
COX16	51241	BI	GRCh38	chr14	70342681	70342681	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcttcacagcatcatatcGgatttgagaaaactcacgaa	6	10	4	1	rs761014452	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.118C>T	p.Arg40Ter	p.R40*	ENST00000389912	2/4	36	21	15	64			COX16,stop_gained,p.R40*,ENST00000389912,NM_016468.6,c.118C>T,HIGH,YES,,,-1;SYNJ2BP-COX16,stop_gained,p.R116*,ENST00000621525,NM_001202548.2,c.346C>T,HIGH,YES,,,-1;SYNJ2BP-COX16,5_prime_UTR_variant,,ENST00000555276,,c.-24C>T,MODIFIER,,,,-1;SYNJ2BP-COX16,intron_variant,,ENST00000617196,NM_001202547.2,c.397-13445C>T,MODIFIER,,,,-1;SYNJ2BP-COX16,intron_variant,,ENST00000617124,NM_001202549.2,c.298-13445C>T,MODIFIER,,,,-1;COX16,intron_variant,,ENST00000557612,,n.183-13445C>T,MODIFIER,,,,-1;COX16,intron_variant,,ENST00000555601,,c.*73-13445C>T,MODIFIER,,,,-1	A	ENST00000389912	Transcript	stop_gained	stop_gained	262/1717	118/321	40/106	R/*	Cga/Tga	rs761014452	1		-1	COX16	HGNC	HGNC:20213	protein_coding	YES	CCDS9802.1	ENSP00000374562	Q9P0S2	B8XYC5	UPI000004A06F	NM_016468.6			2/4																			HIGH	1	SNV	1			1	4.118e-05	4.17e-05	0	0	0.0001172	0	6.055e-05	0	0		PASS	ATATCGGATTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4443265	True	Unknown	A	4	1	80	70342681	70342681	G	A	1	0	0	0	0	0	1	0	0	3560	1124	39	2		2	COX16	14	70342681	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2947190	70342681	36701037	325	1498											
DPF3	8110	BI	GRCh38	chr14	72671268	72671268	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcactttctgacgtggaaccGaataagtcctccgtggtacg	10	11	2	1	rs755356965	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.871+2972C>T			ENST00000556509		30	26	4	46			DPF3,synonymous_variant,p.F369F,ENST00000610283,NM_001280544.1,c.1107C>T,LOW,YES,,,-1;DPF3,synonymous_variant,p.F324F,ENST00000614862,NM_001280543.1,c.972C>T,LOW,,,,-1;DPF3,synonymous_variant,p.F314F,ENST00000541685,NM_012074.4,c.942C>T,LOW,,,,-1;DPF3,synonymous_variant,p.F324F,ENST00000546183,,c.972C>T,LOW,,,,-1;DPF3,intron_variant,,ENST00000556509,NM_001280542.1,c.871+2972C>T,MODIFIER,,,,-1;DPF3,non_coding_transcript_exon_variant,,ENST00000557704,,n.654C>T,MODIFIER,,,,-1;DPF3,non_coding_transcript_exon_variant,,ENST00000556891,,n.301C>T,MODIFIER,,,,-1;DPF3,downstream_gene_variant,,ENST00000554594,,,MODIFIER,,,,-1;DPF3,downstream_gene_variant,,ENST00000556238,,,MODIFIER,,,,-1;DPF3,downstream_gene_variant,,ENST00000556997,,,MODIFIER,,,,-1;DPF3,synonymous_variant,p.F369F,ENST00000366353,,c.1107C>T,LOW,,,,-1;DPF3,synonymous_variant,p.F314F,ENST00000381216,,c.942C>T,LOW,,,,-1	A	ENST00000556509	Transcript	intron_variant	intron_variant	-/1138	-/1137	-/378			rs755356965	1		-1	DPF3	HGNC	HGNC:17427	protein_coding		CCDS61497.1	ENSP00000450518	Q92784		UPI000059D26C	NM_001280542.1				8/10																		MODIFIER		SNV	1			1	0.0007414	0.0007465	0	0	0.000116	0.009074	0.0004204	0.001114	0		PASS	GAACCGAATAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	1	1	80	72671268	72671268	G	A	0	1	0	0	0	0	0	0	0	4532	1049	37	2		2	DPF3	14	72671268	Intron	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2328587	72671268	34372450	326	1499											
PTPN21	11099	BI	GRCh38	chr14	88479009	88479009	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagagtccctccgggctcGgtagcggcctgacgtggtga	16	12	0	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2422C>T	p.Arg808Ter	p.R808*	ENST00000328736	12/18	42	35	7	66			PTPN21,stop_gained,p.R808*,ENST00000556564,NM_007039.3,c.2422C>T,HIGH,YES,,,-1;PTPN21,stop_gained,p.R808*,ENST00000328736,,c.2422C>T,HIGH,,,,-1;PTPN21,3_prime_UTR_variant,,ENST00000536337,,c.*2359C>T,MODIFIER,,,,-1;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,,n.2535C>T,MODIFIER,,,,-1	A	ENST00000328736	Transcript	stop_gained	stop_gained	2627/6089	2422/3525	808/1174	R/*	Cga/Tga		1		-1	PTPN21	HGNC	HGNC:9651	protein_coding		CCDS9884.1	ENSP00000330276	Q16825						12/18		PIRSF_domain:PIRSF000934																	HIGH		SNV	1			1											PASS	GGCTCGGTAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	88479009	88479009	G	A	1	0	0	0	0	0	1	0	0	12940	1124	39	2		2	PTPN21	14	88479009	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15807741	88479009	18564709	327	1500											
PTPN21	11099	BI	GRCh38	chr14	88550242	88550242	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttaggtggcttacctccCgcagctccagcctctgggcc	10	16	2	0	rs752802698		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.176G>A	p.Arg59Gln	p.R59Q	ENST00000328736	1/18	61	47	14	105			PTPN21,missense_variant,p.R59Q,ENST00000556564,NM_007039.3,c.176G>A,MODERATE,YES,tolerated(0.16),benign(0.058),-1;PTPN21,missense_variant,p.R59Q,ENST00000328736,,c.176G>A,MODERATE,,tolerated(0.16),benign(0.058),-1;PTPN21,missense_variant,p.R59Q,ENST00000555243,,c.176G>A,MODERATE,,tolerated(0.4),benign(0.058),-1;RP11-507K2.3,upstream_gene_variant,,ENST00000556328,,,MODIFIER,YES,,,1;PTPN21,non_coding_transcript_exon_variant,,ENST00000554628,,n.556G>A,MODIFIER,,,,-1;PTPN21,non_coding_transcript_exon_variant,,ENST00000554178,,n.378G>A,MODIFIER,,,,-1;PTPN21,missense_variant,p.R59Q,ENST00000536337,,c.176G>A,MODERATE,,tolerated(0.25),possibly_damaging(0.776),-1;PTPN21,non_coding_transcript_exon_variant,,ENST00000554270,,n.289G>A,MODIFIER,,,,-1	T	ENST00000328736	Transcript	missense_variant	missense_variant	381/6089	176/3525	59/1174	R/Q	cGg/cAg	rs752802698	1		-1	PTPN21	HGNC	HGNC:9651	protein_coding		CCDS9884.1	ENSP00000330276	Q16825				tolerated(0.16)	benign(0.058)	1/18		Pfam_domain:PF09379;Prints_domain:PR00935;PROSITE_profiles:PS50057;SMART_domains:SM00295;Superfamily_domains:SSF54236;PIRSF_domain:PIRSF000934																	MODERATE		SNV	1			1	8.236e-06	8.47e-06	0	0	0	0	1.537e-05	0	0		panel_of_normals	CCTCCCGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	88550242	88550242	C	T	1	0	0	0	0	1	0	0	0	12940	666	23	2		2	PTPN21	14	88550242	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	71233	88550242	18493476	328	1501											
TTC8	123016	BI	GRCh38	chr14	88871652	88871652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctgacctcatttgaaCgtgccctttctttggctgaa	8	11	3	4	rs772733868	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1201C>T	p.Arg401Cys	p.R401C	ENST00000614125	13/16	103	60	43	114			TTC8,missense_variant,p.R375C,ENST00000622513,NM_198309.3,c.1123C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;TTC8,missense_variant,p.R401C,ENST00000614125,NM_001288781.1,c.1201C>T,MODERATE,YES,deleterious(0),probably_damaging(0.993),1;TTC8,missense_variant,p.R385C,ENST00000345383,NM_144596.3,c.1153C>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;TTC8,missense_variant,p.R187C,ENST00000358622,NM_001288782.1,c.559C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;TTC8,missense_variant,p.R401C,ENST00000338104,,c.1201C>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;TTC8,missense_variant,p.R345C,ENST00000536576,NM_198310.3&NM_001288783.1,c.1033C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;TTC8,missense_variant,p.R385C,ENST00000380656,,c.1153C>T,MODERATE,,deleterious(0),probably_damaging(0.995),1;TTC8,missense_variant,p.R345C,ENST00000346301,,c.1033C>T,MODERATE,,deleterious(0),probably_damaging(0.988),1;TTC8,missense_variant,p.R335C,ENST00000554686,,c.1002C>T,MODERATE,,deleterious(0),probably_damaging(0.99),1;TTC8,missense_variant,p.R120C,ENST00000354441,,c.358C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;TTC8,missense_variant,p.R174C,ENST00000557580,,c.518C>T,MODERATE,,deleterious(0),probably_damaging(0.993),1;TTC8,3_prime_UTR_variant,,ENST00000555057,,c.*560C>T,MODIFIER,,,,1	T	ENST00000614125	Transcript	missense_variant	missense_variant	1397/2377	1201/1596	401/531	R/C	Cgt/Tgt	rs772733868	1		1	TTC8	HGNC	HGNC:20087	protein_coding	YES	CCDS73674.1	ENSP00000482306			UPI0000071182	NM_001288781.1	deleterious(0)	probably_damaging(0.993)	13/16		Low_complexity_(Seg):Seg;Pfam_domain:PF00515;PROSITE_profiles:PS50005;PROSITE_profiles:PS50293;SMART_domains:SM00028;Superfamily_domains:SSF48452																	MODERATE	1	SNV	5			1	1.647e-05	1.648e-05	0	0	0	0.0001512	1.499e-05	0	0		PASS	TTGAACGTGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	88871652	88871652	C	T	1	0	0	0	0	1	0	0	0	17224	536	19	1		1	TTC8	14	88871652	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	321410	88871652	18172066	329	1502											
SERPINA3	12	BI	GRCh38	chr14	94614562	94614562	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacccaggagaaccaagacCgagggacacacgtggacctc	12	13	0	3	rs373526796	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.121C>T	p.Arg41Ter	p.R41*	ENST00000393080	2/5	53	32	21	92			SERPINA3,stop_gained,p.R41*,ENST00000467132,,c.121C>T,HIGH,YES,,,1;SERPINA3,stop_gained,p.R41*,ENST00000393078,NM_001085.4,c.121C>T,HIGH,YES,,,1;SERPINA3,stop_gained,p.R41*,ENST00000393080,,c.121C>T,HIGH,,,,1;SERPINA3,stop_gained,p.R41*,ENST00000555820,,c.121C>T,HIGH,,,,1;SERPINA3,upstream_gene_variant,,ENST00000482740,,,MODIFIER,,,,1;SERPINA3,upstream_gene_variant,,ENST00000621603,,,MODIFIER,,,,1;SERPINA3,intron_variant,,ENST00000556388,,n.57+2115C>T,MODIFIER,,,,1;SERPINA3,downstream_gene_variant,,ENST00000485588,,,MODIFIER,,,,1;SERPINA3,stop_gained,p.R41*,ENST00000556968,,c.121C>T,HIGH,,,,1;SERPINA3,3_prime_UTR_variant,,ENST00000553947,,c.*947C>T,MODIFIER,,,,1	T	ENST00000393080	Transcript	stop_gained	stop_gained	189/1581	121/1272	41/423	R/*	Cga/Tga	rs373526796	1		1	SERPINA3	HGNC	HGNC:16	protein_coding		CCDS32150.1	ENSP00000376795	P01011	A0A024R6P0	UPI000012509B				2/5		Superfamily_domains:SSF56574								2e-04	0								HIGH		SNV	1			1	3.295e-05	3.295e-05	9.61e-05	8.637e-05	0.0001156	0	1.499e-05	0	0		PASS	AAGACCGAGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1225273	True	Unknown	T	4	4	80	94614562	94614562	C	T	1	0	0	0	0	0	1	0	0	14366	644	23	2		2	SERPINA3	14	94614562	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5742910	94614562	12429156	330	1503											
WDR25	79446	BI	GRCh38	chr14	100525890	100525890	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgagaagctacaaggcGaccatccagcagaccttgga	12	10	0	3	rs143825676	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1122G>A	p.=	p.A374A	ENST00000335290	5/7	28	22	6	58			WDR25,synonymous_variant,p.A374A,ENST00000335290,NM_024515.4,c.1122G>A,LOW,YES,,,1;WDR25,synonymous_variant,p.A374A,ENST00000402312,NM_001161476.1,c.1122G>A,LOW,,,,1;WDR25,synonymous_variant,p.A374A,ENST00000554998,,c.1122G>A,LOW,,,,1;WDR25,synonymous_variant,p.A117A,ENST00000542471,,c.351G>A,LOW,,,,1;WDR25,upstream_gene_variant,,ENST00000555201,,,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000557502,,n.310G>A,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000555865,,n.260G>A,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000555775,,n.378G>A,MODIFIER,,,,1;WDR25,non_coding_transcript_exon_variant,,ENST00000554492,,n.505G>A,MODIFIER,,,,1;WDR25,3_prime_UTR_variant,,ENST00000557710,,c.*104G>A,MODIFIER,,,,1	A	ENST00000335290	Transcript	synonymous_variant	synonymous_variant	1348/2123	1122/1635	374/544	A	gcG/gcA	rs143825676	1		1	WDR25	HGNC	HGNC:21064	protein_coding	YES	CCDS32157.1	ENSP00000334148	Q64LD2		UPI0000D4CFD0	NM_024515.4			5/7		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978	2e-04	0	0		0	0.001	0	2e-04	1e-04								LOW	1	SNV	1			1	0.0001977	0.0001983	9.679e-05	0	0	0	0.000346	0	0		panel_of_normals	AAGGCGACCAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	2	1	80	100525890	100525890	G	A	1	0	0	0	0	0	0	0	1	17842	1045	37	2		2	WDR25	14	100525890	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5911328	100525890	6517828	331	1504											
APBA2	321	BI	GRCh38	chr15	29113951	29113951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgcatcatcgagatcaacGggcagagcgtggtggccaca	13	12	2	2	rs753314225		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2113G>A	p.Gly705Arg	p.G705R	ENST00000558259	13/14	43	40	3	61			APBA2,missense_variant,p.G705R,ENST00000558402,,c.2113G>A,MODERATE,YES,deleterious(0.02),probably_damaging(0.983),1;APBA2,missense_variant,p.G705R,ENST00000558259,NM_005503.3,c.2113G>A,MODERATE,,deleterious(0.02),probably_damaging(0.983),1;APBA2,missense_variant,p.G693R,ENST00000411764,NM_001130414.1,c.2077G>A,MODERATE,,deleterious(0.02),probably_damaging(0.991),1;APBA2,missense_variant,p.G693R,ENST00000558330,,c.2077G>A,MODERATE,,deleterious(0.02),probably_damaging(0.991),1;APBA2,missense_variant,p.G705R,ENST00000561069,,c.2113G>A,MODERATE,,deleterious(0.02),probably_damaging(0.983),1	A	ENST00000558259	Transcript	missense_variant	missense_variant	2320/3635	2113/2250	705/749	G/R	Ggg/Agg	rs753314225	1		1	APBA2	HGNC	HGNC:579	protein_coding		CCDS10022.1	ENSP00000454171	Q99767			NM_005503.3	deleterious(0.02)	probably_damaging(0.983)	13/14		Pfam_domain:PF00595;PROSITE_profiles:PS50106;SMART_domains:SM00228;Superfamily_domains:SSF50156																	MODERATE		SNV	1			1	8.237e-06	8.309e-06	0	0	0	0	0	0	6.058e-05		PASS	TCAACGGGCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4053894	True	Unknown	A	3	1	80	29113951	29113951	G	A	1	0	0	0	0	1	0	0	0	877	1116	39	2		2	APBA2	15	29113951	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		29113951	72877238	332	1505											
NOP10	55505	BI	GRCh38	chr15	34342029	34342029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgtttcttgatggtgattCggtgtcgagagtatttgtca	13	5	2	3	rs201604296	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.134G>A	p.Arg45Gln	p.R45Q	ENST00000328848	2/2	29	15	14	40			NOP10,missense_variant,p.R45Q,ENST00000328848,NM_018648.3,c.134G>A,MODERATE,YES,tolerated(0.06),benign(0.408),-1;NOP10,missense_variant,p.E26K,ENST00000557912,,c.76G>A,MODERATE,,tolerated_low_confidence(0.64),unknown(0),-1;SLC12A6,upstream_gene_variant,,ENST00000354181,,,MODIFIER,YES,,,-1;SLC12A6,upstream_gene_variant,,ENST00000458406,NM_001042494.1,,MODIFIER,,,,-1;NUTM1,upstream_gene_variant,,ENST00000614490,NM_175741.2,,MODIFIER,,,,1;NUTM1,upstream_gene_variant,,ENST00000537011,NM_001284292.1,,MODIFIER,YES,,,1;SLC12A6,upstream_gene_variant,,ENST00000397702,NM_001042495.1,,MODIFIER,,,,-1;NUTM1,upstream_gene_variant,,ENST00000438749,NM_001284293.1,,MODIFIER,,,,1;SLC12A6,upstream_gene_variant,,ENST00000558589,NM_001042496.1,,MODIFIER,,,,-1;NUTM1,upstream_gene_variant,,ENST00000333756,,,MODIFIER,,,,1;SLC12A6,upstream_gene_variant,,ENST00000558667,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000559236,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000561120,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000559484,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000561080,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000559664,,,MODIFIER,,,,-1;SLC12A6,upstream_gene_variant,,ENST00000559523,,,MODIFIER,,,,-1	T	ENST00000328848	Transcript	missense_variant	missense_variant	238/554	134/195	45/64	R/Q	cGa/cAa	rs201604296	1		-1	NOP10	HGNC	HGNC:14378	protein_coding	YES	CCDS10037.1	ENSP00000332198	Q9NPE3		UPI0000022AEE	NM_018648.3	tolerated(0.06)	benign(0.408)	2/2		Pfam_domain:PF04135;Superfamily_domains:SSF144210																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	0.000173	0	0	0	0	0		PASS	TGATTCGGTGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	34342029	34342029	C	T	1	0	0	0	0	1	0	0	0	10579	893	31	2		2	NOP10	15	34342029	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5228078	34342029	67649160	333	1506											
IVD	3712	BI	GRCh38	chr15	40410720	40410720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagtggggctcagttacGgtgcccactccaacctctgc	12	14	2	0	rs754570116	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.388G>A	p.Gly130Ser	p.G130S	ENST00000487418	4/12	29	16	13	50			IVD,missense_variant,p.G100S,ENST00000479013,NM_001159508.1,c.298G>A,MODERATE,,deleterious(0),possibly_damaging(0.901),1;IVD,missense_variant,p.G130S,ENST00000487418,NM_002225.3,c.388G>A,MODERATE,YES,deleterious(0),probably_damaging(0.936),1;IVD,missense_variant,p.G47S,ENST00000473112,,c.138G>A,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.905),1;IVD,missense_variant,p.G111S,ENST00000558610,,c.331G>A,MODERATE,,deleterious(0),probably_damaging(0.96),1;IVD,missense_variant,p.G159S,ENST00000610693,,c.475G>A,MODERATE,,deleterious(0),probably_damaging(0.956),1;IVD,upstream_gene_variant,,ENST00000491554,,,MODIFIER,,,,1;IVD,upstream_gene_variant,,ENST00000497252,,,MODIFIER,,,,1;IVD,non_coding_transcript_exon_variant,,ENST00000484250,,n.2G>A,MODIFIER,,,,1;IVD,upstream_gene_variant,,ENST00000497816,,,MODIFIER,,,,1;IVD,upstream_gene_variant,,ENST00000481262,,,MODIFIER,,,,1;IVD,upstream_gene_variant,,ENST00000560660,,,MODIFIER,,,,1	A	ENST00000487418	Transcript	missense_variant	missense_variant	412/1809	388/1281	130/426	G/S	Ggt/Agt	rs754570116	1		1	IVD	HGNC	HGNC:6186	protein_coding	YES	CCDS10057.2	ENSP00000418397		A0A0A0MT83	UPI0000D4AF3D	NM_002225.3	deleterious(0)	probably_damaging(0.936)	4/12		Pfam_domain:PF02771;Superfamily_domains:SSF56645																	MODERATE	1	SNV	1			1	1.647e-05	1.648e-05	0	0	0	0	0	0	0.0001211		PASS	GTTACGGTGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	40410720	40410720	G	A	1	0	0	0	0	1	0	0	0	7834	1116	39	2		2	IVD	15	40410720	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6068691	40410720	61580469	334	1507											
ATP8B4	79895	BI	GRCh38	chr15	49972651	49972651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgagggtacccgttttgtCggagaaaatgtactcaatct	11	7	2	2	rs115015219	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1174G>A	p.Asp392Asn	p.D392N	ENST00000284509	13/28	79	48	31	74			ATP8B4,missense_variant,p.D392N,ENST00000284509,NM_024837.3,c.1174G>A,MODERATE,YES,deleterious(0),possibly_damaging(0.833),-1;ATP8B4,missense_variant,p.D392N,ENST00000559829,,c.1174G>A,MODERATE,,deleterious(0),possibly_damaging(0.833),-1;ATP8B4,missense_variant,p.D392N,ENST00000557955,,c.1174G>A,MODERATE,,deleterious(0),probably_damaging(0.982),-1;ATP8B4,3_prime_UTR_variant,,ENST00000559726,,c.*893G>A,MODIFIER,,,,-1;ATP8B4,3_prime_UTR_variant,,ENST00000558906,,c.*893G>A,MODIFIER,,,,-1	T	ENST00000284509	Transcript	missense_variant	missense_variant	1316/5676	1174/3579	392/1192	D/N	Gac/Aac	rs115015219	1		-1	ATP8B4	HGNC	HGNC:13536	protein_coding	YES	CCDS32238.1	ENSP00000284509	Q8TF62		UPI0000055904	NM_024837.3	deleterious(0)	possibly_damaging(0.833)	13/28		Prints_domain:PR00119;TIGRFAM_domain:TIGR01652;TIGRFAM_domain:TIGR01494;Superfamily_domains:SSF81665;Superfamily_domains:SSF56784	4e-04	0	0		0	0.002	0	0	2e-04								MODERATE	1	SNV	5			1	0.0001565	0.0001569	9.612e-05	0	0	0	0.0002701	0	0		panel_of_normals	TTTGTCGGAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	49972651	49972651	C	T	1	0	0	0	0	1	0	0	0	1350	884	31	2		2	ATP8B4	15	49972651	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9561931	49972651	52018538	335	1508											
TLN2	83660	BI	GRCh38	chr15	62736932	62736932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactggcccaggccgcccGtggagtggctgcatcgacaa	13	14	0	0	rs750147149		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3413G>A	p.Arg1138His	p.R1138H	ENST00000306829	26/56	43	19	24	55			TLN2,missense_variant,p.R1138H,ENST00000561311,,c.3413G>A,MODERATE,YES,tolerated(0.21),benign(0.109),1;TLN2,missense_variant,p.R1138H,ENST00000306829,NM_015059.2,c.3413G>A,MODERATE,,tolerated(0.21),benign(0.109),1;TLN2,missense_variant,p.R52H,ENST00000494733,,c.155G>A,MODERATE,,tolerated(0.16),benign(0.309),1;TLN2,non_coding_transcript_exon_variant,,ENST00000559908,,n.245G>A,MODIFIER,,,,1;TLN2,upstream_gene_variant,,ENST00000489129,,,MODIFIER,,,,1	A	ENST00000306829	Transcript	missense_variant	missense_variant	3413/11650	3413/7629	1138/2542	R/H	cGt/cAt	rs750147149	1		1	TLN2	HGNC	HGNC:15447	protein_coding		CCDS32261.1	ENSP00000303476	Q9Y4G6		UPI00001FE5FC	NM_015059.2	tolerated(0.21)	benign(0.109)	26/56		PROSITE_profiles:PS50310;Superfamily_domains:SSF47220																	MODERATE		SNV	1			1	8.237e-06	8.305e-06	0	0	0	0.0001513	0	0	0		PASS	CGCCCGTGGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	62736932	62736932	G	A	1	0	0	0	0	1	0	0	0	16394	1145	40	1		1	TLN2	15	62736932	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	12764281	62736932	39254257	336	1509											
IGDCC3	9543	BI	GRCh38	chr15	65329794	65329794	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaccccgatgtggatgccGatgacgatgcctgtggtgga	16	9	0	2	rs759891168		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1929C>T	p.=	p.I643I	ENST00000327987	12/14	23	12	11	34			IGDCC3,synonymous_variant,p.I643I,ENST00000327987,NM_004884.3,c.1929C>T,LOW,YES,,,-1;IGDCC3,synonymous_variant,p.I506I,ENST00000558354,,c.1518C>T,LOW,,,,-1;IGDCC3,downstream_gene_variant,,ENST00000559058,,,MODIFIER,,,,-1;IGDCC3,downstream_gene_variant,,ENST00000559231,,,MODIFIER,,,,-1	A	ENST00000327987	Transcript	synonymous_variant	synonymous_variant	2181/4479	1929/2445	643/814	I	atC/atT	rs759891168	1		-1	IGDCC3	HGNC	HGNC:9700	protein_coding	YES	CCDS10205.1	ENSP00000332773	Q8IVU1		UPI000019908F	NM_004884.3			12/14		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	LOW	1	SNV	1			1	8.236e-06	8.267e-06	0	0	0.0001157	0	0	0	0		PASS	ATGCCGATGAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	65329794	65329794	G	A	1	0	0	0	0	0	0	0	1	7474	1048	37	2		2	IGDCC3	15	65329794	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2592862	65329794	36661395	337	1510											
TLE3	7090	BI	GRCh38	chr15	70055238	70055238	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccggggcctgccagggcGtcgtgggggaagggcacggg	22	10	0	0	rs201049660	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1398C>T	p.=	p.D466D	ENST00000558939	15/20	56	29	27	78			TLE3,synonymous_variant,p.D466D,ENST00000558939,NM_005078.3,c.1398C>T,LOW,YES,,,-1;TLE3,synonymous_variant,p.D466D,ENST00000627388,,c.1398C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D454D,ENST00000317509,NM_020908.2,c.1362C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D458D,ENST00000557997,NM_001282979.1,c.1374C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D410D,ENST00000560589,,c.1230C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D476D,ENST00000559929,,c.1428C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D468D,ENST00000560939,,c.1404C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D466D,ENST00000559048,,c.1398C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D472D,ENST00000558201,,c.1416C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D456D,ENST00000440567,NM_001282981.1,c.1368C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D393D,ENST00000539550,NM_001282982.1,c.1179C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D463D,ENST00000451782,NM_001105192.2,c.1389C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D461D,ENST00000558379,NM_001282980.1,c.1383C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D458D,ENST00000557907,,c.1374C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D47D,ENST00000559191,,c.141C>T,LOW,,,,-1;TLE3,synonymous_variant,p.D537D,ENST00000560525,,c.1610C>T,LOW,,,,-1;TLE3,3_prime_UTR_variant,,ENST00000557919,,c.*34C>T,MODIFIER,,,,-1;TLE3,3_prime_UTR_variant,,ENST00000561453,,c.*34C>T,MODIFIER,,,,-1;TLE3,non_coding_transcript_exon_variant,,ENST00000557815,,n.2454C>T,MODIFIER,,,,-1;TLE3,non_coding_transcript_exon_variant,,ENST00000542329,,n.26C>T,MODIFIER,,,,-1;TLE3,upstream_gene_variant,,ENST00000559608,,,MODIFIER,,,,-1;TLE3,downstream_gene_variant,,ENST00000559826,,,MODIFIER,,,,-1	A	ENST00000558939	Transcript	synonymous_variant	synonymous_variant	2776/6004	1398/2319	466/772	D	gaC/gaT	rs201049660	1		-1	TLE3	HGNC	HGNC:11839	protein_coding	YES	CCDS45293.1	ENSP00000452871	Q04726		UPI000013703A	NM_005078.3			15/20		Superfamily_domains:SSF50978	8e-04	0	0		0.004	0	0										LOW	1	SNV	1			1	0.0002307	0.0002376	0	0	0.003044	0	1.525e-05	0.001134	0		panel_of_normals	AGGGCGTCGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM4865048;COSM964436	True	Unknown	A	2	1	80	70055238	70055238	G	A	1	0	0	0	0	0	0	0	1	16386	1136	40	1		1	TLE3	15	70055238	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4725444	70055238	31935951	338	1511											
THSD4	79875	BI	GRCh38	chr15	71660559	71660559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgactacttaggctcCgacaaagtcgtggacaaatg	11	8	0	2	rs769044561	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1182C>T	p.=	p.S394S	ENST00000355327	8/18	178	154	24	201			THSD4,synonymous_variant,p.S394S,ENST00000355327,NM_024817.2,c.1182C>T,LOW,YES,,,1;THSD4,synonymous_variant,p.S34S,ENST00000357769,NM_001286429.1,c.102C>T,LOW,,,,1;THSD4,synonymous_variant,p.S34S,ENST00000261862,,c.102C>T,LOW,,,,1;THSD4,non_coding_transcript_exon_variant,,ENST00000567838,,n.105C>T,MODIFIER,,,,1;THSD4,non_coding_transcript_exon_variant,,ENST00000567776,,n.30C>T,MODIFIER,,,,1;THSD4,non_coding_transcript_exon_variant,,ENST00000567745,,n.284C>T,MODIFIER,,,,1	T	ENST00000355327	Transcript	synonymous_variant	synonymous_variant	1316/9200	1182/3057	394/1018	S	tcC/tcT	rs769044561	1		1	THSD4	HGNC	HGNC:25835	protein_coding	YES	CCDS10238.2	ENSP00000347484	Q6ZMP0		UPI00001A797D	NM_024817.2			8/18																			LOW	1	SNV	5			1	2.481e-05	2.484e-05	0.000102	0	0.000116	0	1.498e-05	0	0		panel_of_normals	GGCTCCGACAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	71660559	71660559	C	T	1	0	0	0	0	0	0	0	1	16312	639	23	2		2	THSD4	15	71660559	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1605321	71660559	30330630	339	1512											
HCN4	10021	BI	GRCh38	chr15	73323555	73323555	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggtgtgtccacctgggaCgggctgctggcgggcgaggc	20	11	0	0	rs372747050	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2538G>A	p.=	p.P846P	ENST00000261917	8/8	72	44	28	78			HCN4,synonymous_variant,p.P846P,ENST00000261917,NM_005477.2,c.2538G>A,LOW,YES,,,-1	T	ENST00000261917	Transcript	synonymous_variant	synonymous_variant	3532/7228	2538/3612	846/1203	P	ccG/ccA	rs372747050	1		-1	HCN4	HGNC	HGNC:16882	protein_coding	YES	CCDS10248.1	ENSP00000261917	Q9Y3Q4		UPI000003FFB5	NM_005477.2			8/8		Low_complexity_(Seg):Seg								2e-04	0								LOW	1	SNV	1			1	8.249e-05	8.507e-05	0.000104	0	0	0	0.0001242	0	6.116e-05		PASS	TGGGACGGGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1749303	True	Unknown	T	2	4	80	73323555	73323555	C	T	1	0	0	0	0	0	0	0	1	6886	523	19	1		1	HCN4	15	73323555	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1662996	73323555	28667634	340	1513											
SCAMP5	192683	BI	GRCh38	chr15	75018445	75018445	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgctaccatctccttcttCggaacgaacattggctcggc	8	13	2	0	rs555923708	by1000G;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.423C>T	p.=	p.F141F	ENST00000361900	7/8	172	143	29	170			SCAMP5,synonymous_variant,p.F141F,ENST00000361900,NM_001178111.1,c.423C>T,LOW,YES,,,1;SCAMP5,synonymous_variant,p.F141F,ENST00000425597,NM_138967.3&NM_001178112.1,c.423C>T,LOW,,,,1;SCAMP5,synonymous_variant,p.F149F,ENST00000562212,,c.447C>T,LOW,,,,1;SCAMP5,synonymous_variant,p.F74F,ENST00000568081,,c.222C>T,LOW,,,,1;SCAMP5,synonymous_variant,p.F141F,ENST00000564779,,c.423C>T,LOW,,,,1;SCAMP5,downstream_gene_variant,,ENST00000568018,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000567920,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000562327,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000566872,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000565989,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000565923,,,MODIFIER,,,,1;SCAMP5,downstream_gene_variant,,ENST00000564141,,,MODIFIER,,,,1;SCAMP5,3_prime_UTR_variant,,ENST00000562765,,c.*128C>T,MODIFIER,,,,1;SCAMP5,3_prime_UTR_variant,,ENST00000568423,,c.*128C>T,MODIFIER,,,,1;SCAMP5,3_prime_UTR_variant,,ENST00000567529,,c.*152C>T,MODIFIER,,,,1;SCAMP5,3_prime_UTR_variant,,ENST00000564491,,c.*128C>T,MODIFIER,,,,1;RP11-151H2.1,upstream_gene_variant,,ENST00000565251,,,MODIFIER,YES,,,1	T	ENST00000361900	Transcript	synonymous_variant	synonymous_variant	630/3427	423/708	141/235	F	ttC/ttT	rs555923708	1		1	SCAMP5	HGNC	HGNC:30386	protein_coding	YES	CCDS45306.1	ENSP00000355387	Q8TAC9	A0A0A8K8F5		NM_001178111.1			7/8		Pfam_domain:PF04144	4e-04	0	0		0	0	0.002										LOW	1	SNV	2			1	0.0001158	0.0001159	0	0	0	0	0	0	0.0008479		PASS	TTCTTCGGAAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	2	4	80	75018445	75018445	C	T	1	0	0	0	0	0	0	0	1	14141	883	31	2		2	SCAMP5	15	75018445	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1694890	75018445	26972744	341	1514											
AP3B2	8120	BI	GRCh38	chr15	82677724	82677724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaggcaggtgtcacggactCggccgatgttagttgcacag	15	9	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1325G>A	p.Arg442Gln	p.R442Q	ENST00000261722	12/26	19	6	13	10			AP3B2,missense_variant,p.R442Q,ENST00000261722,,c.1325G>A,MODERATE,,tolerated(0.13),benign(0.009),-1;AP3B2,missense_variant,p.R442Q,ENST00000620652,NM_004644.4,c.1325G>A,MODERATE,,tolerated(0.13),benign(0.009),-1;AP3B2,missense_variant,p.R442Q,ENST00000535359,NM_001278512.1,c.1325G>A,MODERATE,YES,tolerated(0.15),benign(0.009),-1;AP3B2,missense_variant,p.R410Q,ENST00000535348,NM_001278511.1,c.1229G>A,MODERATE,,tolerated(0.13),benign(0.293),-1;AP3B2,downstream_gene_variant,,ENST00000541693,,,MODIFIER,,,,-1;CPEB1-AS1,intron_variant,,ENST00000560650,,n.1329-14287C>T,MODIFIER,,,,1;AP3B2,non_coding_transcript_exon_variant,,ENST00000543938,,n.448G>A,MODIFIER,,,,-1;AP3B2,downstream_gene_variant,,ENST00000535385,,,MODIFIER,,,,-1;AP3B2,downstream_gene_variant,,ENST00000559888,,,MODIFIER,,,,-1	T	ENST00000261722	Transcript	missense_variant	missense_variant	1533/3736	1325/3249	442/1082	R/Q	cGa/cAa		1		-1	AP3B2	HGNC	HGNC:567	protein_coding		CCDS45331.1	ENSP00000261722	Q13367		UPI0000125030		tolerated(0.13)	benign(0.009)	12/26		Pfam_domain:PF01602;Superfamily_domains:SSF48371;PIRSF_domain:PIRSF037096																	MODERATE		SNV	1			1											PASS	GGACTCGGCCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	82677724	82677724	C	T	1	0	0	0	0	1	0	0	0	861	884	31	2		2	AP3B2	15	82677724	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7659279	82677724	19313465	342	1515											
AKAP13	11214	BI	GRCh38	chr15	85581231	85581231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagatgggtctgatgggtccGatgctcttaactgcagtcag	13	9	3	2	rs753131765	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3163G>A	p.Asp1055Asn	p.D1055N	ENST00000394518	7/37	62	43	19	63			AKAP13,missense_variant,p.D1055N,ENST00000394518,NM_007200.4,c.3163G>A,MODERATE,,deleterious_low_confidence(0.02),benign(0),1;AKAP13,missense_variant,p.D1055N,ENST00000361243,NM_006738.5,c.3163G>A,MODERATE,YES,deleterious_low_confidence(0.02),benign(0),1;AKAP13,missense_variant,p.D1055N,ENST00000559362,,c.3163G>A,MODERATE,,deleterious(0),benign(0),1;AKAP13,downstream_gene_variant,,ENST00000558166,,,MODIFIER,,,,1;AKAP13,upstream_gene_variant,,ENST00000560340,,,MODIFIER,,,,1;AKAP13,downstream_gene_variant,,ENST00000558811,,,MODIFIER,,,,1;RP11-815J21.2,upstream_gene_variant,,ENST00000561409,,,MODIFIER,YES,,,-1	A	ENST00000394518	Transcript	missense_variant	missense_variant	3258/13215	3163/8442	1055/2813	D/N	Gat/Aat	rs753131765	1		1	AKAP13	HGNC	HGNC:371	protein_coding		CCDS32319.1	ENSP00000378026	Q12802		UPI0000167BA0	NM_007200.4	deleterious_low_confidence(0.02)	benign(0)	7/37																			MODERATE		SNV	1			1	1.647e-05	1.65e-05	0	8.646e-05	0	0	1.501e-05	0	0		PASS	GGTCCGATGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	85581231	85581231	G	A	1	0	0	0	0	1	0	0	0	532	1058	37	2		2	AKAP13	15	85581231	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2903507	85581231	16409958	343	1516											
ALDH1A3	220	BI	GRCh38	chr15	100900655	100900655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcctccagggtgttcGtggaggagcaggtctactct	15	11	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.964G>A	p.Val322Met	p.V322M	ENST00000329841	9/13	22	15	7	31			ALDH1A3,missense_variant,p.V322M,ENST00000329841,NM_000693.2,c.964G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.999),1;ALDH1A3,missense_variant,p.V215M,ENST00000346623,NM_001293815.1,c.643G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;RP11-66B24.4,intron_variant,,ENST00000560351,,n.481-4589C>T,MODIFIER,YES,,,-1;ALDH1A3,non_coding_transcript_exon_variant,,ENST00000558869,,n.207G>A,MODIFIER,,,,1;ALDH1A3,downstream_gene_variant,,ENST00000558033,,,MODIFIER,,,,1	A	ENST00000329841	Transcript	missense_variant	missense_variant	1496/3924	964/1539	322/512	V/M	Gtg/Atg		1		1	ALDH1A3	HGNC	HGNC:409	protein_coding	YES	CCDS10389.1	ENSP00000332256	P47895	A0A024RC95	UPI00001AFAF8	NM_000693.2	deleterious(0.01)	probably_damaging(0.999)	9/13		Pfam_domain:PF00171;Superfamily_domains:SSF53720																	MODERATE	1	SNV	1			1											PASS	TGTTCGTGGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	100900655	100900655	G	A	1	0	0	0	0	1	0	0	0	592	1145	40	1		1	ALDH1A3	15	100900655	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15319424	100900655	1090534	344	1517											
SNRNP25	79622	BI	GRCh38	chr16	55487	55487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagtcaactcccaaaTagccctagaatacggccagg	10	11	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.98T>C	p.Ile33Thr	p.I33T	ENST00000383018	2/5	102	96	6	167			SNRNP25,missense_variant,p.I24T,ENST00000293861,,c.71T>C,MODERATE,,tolerated(0.05),possibly_damaging(0.871),1;SNRNP25,missense_variant,p.I33T,ENST00000383018,NM_024571.3,c.98T>C,MODERATE,YES,tolerated(0.05),possibly_damaging(0.871),1;SNRNP25,missense_variant,p.I24T,ENST00000417493,,c.71T>C,MODERATE,,tolerated(0.05),possibly_damaging(0.736),1;RHBDF1,downstream_gene_variant,,ENST00000262316,NM_022450.3,,MODIFIER,YES,,,-1;POLR3K,upstream_gene_variant,,ENST00000293860,NM_016310.3,,MODIFIER,YES,,,-1;RHBDF1,downstream_gene_variant,,ENST00000448893,,,MODIFIER,,,,-1;SNRNP25,non_coding_transcript_exon_variant,,ENST00000493672,,n.189T>C,MODIFIER,,,,1;SNRNP25,missense_variant,p.I24T,ENST00000397876,,c.71T>C,MODERATE,,deleterious(0.04),possibly_damaging(0.79),1;SNRNP25,non_coding_transcript_exon_variant,,ENST00000466183,,n.528T>C,MODIFIER,,,,1;RHBDF1,downstream_gene_variant,,ENST00000428730,,,MODIFIER,,,,-1;SNRNP25,upstream_gene_variant,,ENST00000481947,,,MODIFIER,,,,1;RHBDF1,downstream_gene_variant,,ENST00000493647,,,MODIFIER,,,,-1;RHBDF1,downstream_gene_variant,,ENST00000486045,,,MODIFIER,,,,-1;POLR3K,upstream_gene_variant,,ENST00000481810,,,MODIFIER,,,,-1	C	ENST00000383018	Transcript	missense_variant	missense_variant	259/1085	98/399	33/132	I/T	aTa/aCa		1		1	SNRNP25	HGNC	HGNC:14161	protein_coding	YES	CCDS10396.1	ENSP00000372482	Q9BV90			NM_024571.3	tolerated(0.05)	possibly_damaging(0.871)	2/5																			MODERATE	1	SNV	1			1											PASS	CCAAATAGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	C	3	2	80	55487	55487	T	C	1	0	0	0	0	1	0	0	0	15173	1406	49	4		4	SNRNP25	16	55487	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08		55487	90282858	345	1518											
CASKIN1	57524	BI	GRCh38	chr16	2181446	2181446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggggactggcagtcggccGgtgtgggctcaggcgggggc	22	9	1	0	rs201669676	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1922C>T	p.Pro641Leu	p.P641L	ENST00000343516	18/20	22	6	16	30			CASKIN1,missense_variant,p.P641L,ENST00000343516,NM_020764.3,c.1922C>T,MODERATE,YES,,benign(0.158),-1;TRAF7,downstream_gene_variant,,ENST00000326181,NM_032271.2,,MODIFIER,YES,,,1;CASKIN1,downstream_gene_variant,,ENST00000564289,,,MODIFIER,,,,-1	A	ENST00000343516	Transcript	missense_variant	missense_variant	2015/5759	1922/4296	641/1431	P/L	cCg/cTg	rs201669676	1		-1	CASKIN1	HGNC	HGNC:20879	protein_coding	YES	CCDS42103.1	ENSP00000345436	Q8WXD9		UPI0000073A3B	NM_020764.3		benign(0.158)	18/20		Low_complexity_(Seg):Seg	8e-04	0	0		0.001	0	0.0031	3e-04	1e-04								MODERATE		SNV	5			1	0.0004315	0.0004751	0.0001217	0	0.002669	0	4.938e-05	0.002611	0.00153		PASS	CGGCCGGTGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM3278648;COSM3278649	True	Unknown	A	3	1	80	2181446	2181446	G	A	1	0	0	0	0	1	0	0	0	2366	1116	39	2		2	CASKIN1	16	2181446	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2125959	2181446	88156899	346	1519											
ABCA3	21	BI	GRCh38	chr16	2297525	2297525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgcccgaggtgggctcGtccagtatcagcacctggag	13	13	1	0	rs765175808		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2067C>T	p.=	p.D689D	ENST00000301732	17/33	39	31	8	42			ABCA3,synonymous_variant,p.D689D,ENST00000301732,NM_001089.2,c.2067C>T,LOW,YES,,,-1;ABCA3,synonymous_variant,p.D631D,ENST00000382381,,c.1893C>T,LOW,,,,-1;ABCA3,non_coding_transcript_exon_variant,,ENST00000563623,,n.2630C>T,MODIFIER,,,,-1	A	ENST00000301732	Transcript	synonymous_variant	synonymous_variant	2768/6609	2067/5115	689/1704	D	gaC/gaT	rs765175808	1		-1	ABCA3	HGNC	HGNC:33	protein_coding	YES	CCDS10466.1	ENSP00000301732	Q99758		UPI0000001232	NM_001089.2			17/33		Pfam_domain:PF00005;PROSITE_profiles:PS50893;SMART_domains:SM00382;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1	8.237e-06	8.297e-06	0	0	0	0	1.514e-05	0	0		PASS	GGCTCGTCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	2297525	2297525	G	A	1	0	0	0	0	0	0	0	1	37	1136	40	1		1	ABCA3	16	2297525	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	116079	2297525	88040820	347	1520											
ADCY9	115	BI	GRCh38	chr16	4114054	4114054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcatgcccaggcccatctcGatgcagcagtaggcatggtc	11	13	2	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1389C>T	p.=	p.I463I	ENST00000294016	2/11	59	53	6	82			ADCY9,synonymous_variant,p.I463I,ENST00000294016,NM_001116.3,c.1389C>T,LOW,YES,,,-1;ADCY9,upstream_gene_variant,,ENST00000572288,,,MODIFIER,,,,-1;ADCY9,upstream_gene_variant,,ENST00000571467,,,MODIFIER,,,,-1	A	ENST00000294016	Transcript	synonymous_variant	synonymous_variant	1928/7725	1389/4062	463/1353	I	atC/atT		1		-1	ADCY9	HGNC	HGNC:240	protein_coding	YES	CCDS32382.1	ENSP00000294016	O60503		UPI000012887F	NM_001116.3			2/11		Pfam_domain:PF00211;SMART_domains:SM00044;PROSITE_profiles:PS50125;Superfamily_domains:SSF55073																	LOW	1	SNV	1			1											PASS	ATCTCGATGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3691001	True	Unknown	A	2	1	80	4114054	4114054	G	A	1	0	0	0	0	0	0	0	1	345	1048	37	2		2	ADCY9	16	4114054	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1816529	4114054	86224291	348	1521											
PPL	5493	BI	GRCh38	chr16	4883600	4883600	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctggcttctgagtttcacGaacatgttccagtcaatgag	9	10	3	2	rs772773621	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5055C>T	p.=	p.F1685F	ENST00000345988	22/22	36	18	18	48			PPL,synonymous_variant,p.F1685F,ENST00000345988,NM_002705.4,c.5055C>T,LOW,YES,,,-1;PPL,synonymous_variant,p.F1683F,ENST00000590782,,c.5049C>T,LOW,,,,-1;PPL,synonymous_variant,p.F1106F,ENST00000592772,,c.3318C>T,LOW,,,,-1;UBN1,downstream_gene_variant,,ENST00000396658,,,MODIFIER,YES,,,1;UBN1,downstream_gene_variant,,ENST00000262376,NM_001079514.2,,MODIFIER,,,,1;UBN1,downstream_gene_variant,,ENST00000590769,NM_001288656.1,,MODIFIER,,,,1;UBN1,downstream_gene_variant,,ENST00000589191,,,MODIFIER,,,,1	A	ENST00000345988	Transcript	synonymous_variant	synonymous_variant	5145/6238	5055/5271	1685/1756	F	ttC/ttT	rs772773621	1		-1	PPL	HGNC	HGNC:9273	protein_coding	YES	CCDS10526.1	ENSP00000340510	O60437		UPI00001AE832	NM_002705.4			22/22		Pfam_domain:PF00681;SMART_domains:SM00250;Superfamily_domains:SSF75399																	LOW	1	SNV	1			1	3.295e-05	3.296e-05	0	0	0	0	2.999e-05	0	0.0001211		PASS	TTCACGAACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	4883600	4883600	G	A	1	0	0	0	0	0	0	0	1	12444	1049	37	2		2	PPL	16	4883600	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	769546	4883600	85454745	349	1522											
PPL	5493	BI	GRCh38	chr16	4899057	4899057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggccgccagcagctggtCgccctcgctgtgcagtttgt	13	15	0	0	rs763239987	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.832G>A	p.Asp278Asn	p.D278N	ENST00000345988	8/22	77	50	27	94			PPL,missense_variant,p.D278N,ENST00000345988,NM_002705.4,c.832G>A,MODERATE,YES,tolerated(0.14),benign(0.012),-1;PPL,missense_variant,p.D276N,ENST00000590782,,c.826G>A,MODERATE,,tolerated(0.14),benign(0.027),-1;PPL,intron_variant,,ENST00000592772,,c.252+3382G>A,MODIFIER,,,,-1	T	ENST00000345988	Transcript	missense_variant	missense_variant	922/6238	832/5271	278/1756	D/N	Gac/Aac	rs763239987	1		-1	PPL	HGNC	HGNC:9273	protein_coding	YES	CCDS10526.1	ENSP00000340510	O60437		UPI00001AE832	NM_002705.4	tolerated(0.14)	benign(0.012)	8/22		Coiled-coils_(Ncoils):ncoils;SMART_domains:SM00150;Superfamily_domains:SSF46966																	MODERATE	1	SNV	1			1	2.471e-05	2.473e-05	0	8.64e-05	0	0	3e-05	0	0		PASS	CTGGTCGCCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	4899057	4899057	C	T	1	0	0	0	0	1	0	0	0	12444	884	31	2		2	PPL	16	4899057	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15457	4899057	85439288	350	1523											
CIITA	4261	BI	GRCh38	chr16	10907288	10907288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccctgacgctcctccGggaccggccacttcttctca	9	18	2	2	rs141095229	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1796G>A	p.Arg599Gln	p.R599Q	ENST00000324288	11/20	23	16	7	31			CIITA,missense_variant,p.R599Q,ENST00000324288,NM_000246.3,c.1796G>A,MODERATE,,tolerated(0.36),benign(0.002),1;CIITA,missense_variant,p.R600Q,ENST00000618327,NM_001286402.1,c.1799G>A,MODERATE,YES,tolerated(0.36),benign(0.005),1;CIITA,missense_variant,p.R551Q,ENST00000611587,,c.1652G>A,MODERATE,,tolerated(0.39),benign(0.013),1;CIITA,intron_variant,,ENST00000618207,,c.1006+2476G>A,MODIFIER,,,,1;CIITA,intron_variant,,ENST00000381835,NM_001286403.1,c.860-1695G>A,MODIFIER,,,,1;CIITA,intron_variant,,ENST00000537380,,n.1006+2476G>A,MODIFIER,,,,1;CIITA,non_coding_transcript_exon_variant,,ENST00000570546,,n.1917G>A,MODIFIER,,,,1;CIITA,non_coding_transcript_exon_variant,,ENST00000573309,,n.1767G>A,MODIFIER,,,,1;CIITA,downstream_gene_variant,,ENST00000571186,,,MODIFIER,,,,1	A	ENST00000324288	Transcript	missense_variant	missense_variant	1929/11952	1796/3393	599/1130	R/Q	cGg/cAg	rs141095229	1		1	CIITA	HGNC	HGNC:7067	protein_coding		CCDS10544.1	ENSP00000316328		A0A0B4J1S1	UPI00015BB2D6	NM_000246.3	tolerated(0.36)	benign(0.002)	11/20		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50837;Superfamily_domains:SSF52540								0	1e-04								MODERATE		SNV	1			1	2.472e-05	2.552e-05	0	0	0	0	4.68e-05	0	0		PASS	CCTCCGGGACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	10907288	10907288	G	A	1	0	0	0	0	1	0	0	0	3190	1116	39	2		2	CIITA	16	10907288	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	6008231	10907288	79431057	351	1524											
ZNF629	23361	BI	GRCh38	chr16	30781988	30781988	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccgggtgagggccacGcggtcgaggaaggaggccct	20	10	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2340C>T	p.=	p.R780R	ENST00000262525	3/3	117	90	27	133			ZNF629,synonymous_variant,p.R780R,ENST00000262525,NM_001080417.1,c.2340C>T,LOW,YES,,,-1	A	ENST00000262525	Transcript	synonymous_variant	synonymous_variant	2548/6087	2340/2610	780/869	R	cgC/cgT		1		-1	ZNF629	HGNC	HGNC:29008	protein_coding	YES	CCDS45463.1	ENSP00000262525	Q9UEG4		UPI00001C1FA5	NM_001080417.1			3/3		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	LOW	1	SNV	1			1											PASS	GCCACGCGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4744507	True	Unknown	A	2	1	80	30781988	30781988	G	A	1	0	0	0	0	0	0	0	1	18628	1074	38	2		2	ZNF629	16	30781988	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	19874700	30781988	59556357	352	1525											
ITGAX	3687	BI	GRCh38	chr16	31363232	31363232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctggggtcgctttggggCggctctgacagtgctggggg	19	11	1	1	rs200458998	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1568C>T	p.Ala523Val	p.A523V	ENST00000268296	14/30	87	65	22	110			ITGAX,missense_variant,p.A523V,ENST00000268296,NM_000887.4,c.1568C>T,MODERATE,,deleterious(0.01),probably_damaging(0.986),1;ITGAX,missense_variant,p.A523V,ENST00000562522,NM_001286375.1,c.1568C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.976),1;ITGAX,downstream_gene_variant,,ENST00000562918,,,MODIFIER,,,,1;ITGAX,non_coding_transcript_exon_variant,,ENST00000571644,,n.1589C>T,MODIFIER,,,,1;RP11-120K18.3,upstream_gene_variant,,ENST00000561830,,,MODIFIER,YES,,,-1	T	ENST00000268296	Transcript	missense_variant	missense_variant	1689/4703	1568/3492	523/1163	A/V	gCg/gTg	rs200458998	1		1	ITGAX	HGNC	HGNC:6152	protein_coding		CCDS10711.1	ENSP00000268296	P20702			NM_000887.4	deleterious(0.01)	probably_damaging(0.986)	14/30		Pfam_domain:PF01839;Prints_domain:PR01185;SMART_domains:SM00191;Superfamily_domains:SSF69318																	MODERATE		SNV	1			1	2.471e-05	2.475e-05	0	0	0	0	4.501e-05	0	0		PASS	TGGGGCGGCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3969547	True	Unknown	T	3	4	80	31363232	31363232	C	T	1	0	0	0	0	1	0	0	0	7796	768	27	2		2	ITGAX	16	31363232	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	581244	31363232	58975113	353	1526											
ZNF423	23090	BI	GRCh38	chr16	49635691	49635691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgatgtctgggtgcctttcCggggcccactggtctccggc	15	14	2	0	rs532940886	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3461G>A	p.Arg1154Gln	p.R1154Q	ENST00000262383	4/8	67	46	21	94			ZNF423,missense_variant,p.R1154Q,ENST00000561648,,c.3461G>A,MODERATE,YES,tolerated(0.65),benign(0.018),-1;ZNF423,missense_variant,p.R1094Q,ENST00000563137,,c.3281G>A,MODERATE,,tolerated(0.62),benign(0.018),-1;ZNF423,missense_variant,p.R1154Q,ENST00000262383,NM_015069.3,c.3461G>A,MODERATE,,tolerated(0.65),benign(0.018),-1;ZNF423,missense_variant,p.R1094Q,ENST00000562871,,c.3281G>A,MODERATE,,tolerated(0.62),benign(0.018),-1;ZNF423,missense_variant,p.R1037Q,ENST00000535559,,c.3110G>A,MODERATE,,tolerated(0.59),benign(0.018),-1;ZNF423,missense_variant,p.R1094Q,ENST00000562520,NM_001271620.1,c.3281G>A,MODERATE,,tolerated(0.62),benign(0.018),-1;ZNF423,missense_variant,p.R1037Q,ENST00000567169,,c.3110G>A,MODERATE,,tolerated(0.59),benign(0.018),-1	T	ENST00000262383	Transcript	missense_variant	missense_variant	3514/4578	3461/3855	1154/1284	R/Q	cGg/cAg	rs532940886	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding		CCDS32445.1	ENSP00000262383	Q2M1K9		UPI0000353ABC	NM_015069.3	tolerated(0.65)	benign(0.018)	4/8			2e-04	0	0		0.001	0	0										MODERATE		SNV	1			1	2.471e-05	2.686e-05	0	0	0.0001168	0	3.151e-05	0	0		PASS	CTTTCCGGGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	49635691	49635691	C	T	1	0	0	0	0	1	0	0	0	18470	652	23	2		2	ZNF423	16	49635691	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	18272459	49635691	40702654	354	1527											
ZNF423	23090	BI	GRCh38	chr16	49638347	49638347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtctggctgaaggtgtcctCgcagtagtcgcacatgaagt	13	10	1	2	rs745876102		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.805G>A	p.Glu269Lys	p.E269K	ENST00000262383	4/8	21	15	6	24			ZNF423,missense_variant,p.E269K,ENST00000561648,,c.805G>A,MODERATE,YES,tolerated(0.07),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E209K,ENST00000563137,,c.625G>A,MODERATE,,deleterious(0.04),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E269K,ENST00000262383,NM_015069.3,c.805G>A,MODERATE,,tolerated(0.07),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E209K,ENST00000562871,,c.625G>A,MODERATE,,deleterious(0.04),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E152K,ENST00000535559,,c.454G>A,MODERATE,,deleterious(0.04),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E209K,ENST00000562520,NM_001271620.1,c.625G>A,MODERATE,,deleterious(0.04),probably_damaging(0.97),-1;ZNF423,missense_variant,p.E152K,ENST00000567169,,c.454G>A,MODERATE,,deleterious(0.04),probably_damaging(0.97),-1	T	ENST00000262383	Transcript	missense_variant	missense_variant	858/4578	805/3855	269/1284	E/K	Gag/Aag	rs745876102	1		-1	ZNF423	HGNC	HGNC:16762	protein_coding		CCDS32445.1	ENSP00000262383	Q2M1K9		UPI0000353ABC	NM_015069.3	tolerated(0.07)	probably_damaging(0.97)	4/8		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE		SNV	1			1	8.236e-06	8.281e-06	0	0	0	0	1.509e-05	0	0		PASS	GTCCTCGCAGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	49638347	49638347	C	T	1	0	0	0	0	1	0	0	0	18470	893	31	2		2	ZNF423	16	49638347	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2656	49638347	40699998	355	1528											
TOX3	27324	BI	GRCh38	chr16	52464133	52464133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgactctggaggaggcGtgattggtggaatttcgaat	16	5	2	2	rs768449574		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.209C>T	p.Thr70Met	p.T70M	ENST00000219746	3/7	77	57	20	74			TOX3,missense_variant,p.T70M,ENST00000219746,NM_001080430.2,c.209C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;TOX3,missense_variant,p.T65M,ENST00000407228,NM_001146188.1,c.194C>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;TOX3,missense_variant,p.T34M,ENST00000563091,,c.101C>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;TOX3,3_prime_UTR_variant,,ENST00000568436,,c.*133C>T,MODIFIER,,,,-1	A	ENST00000219746	Transcript	missense_variant	missense_variant	494/3233	209/1731	70/576	T/M	aCg/aTg	rs768449574	1		-1	TOX3	HGNC	HGNC:11972	protein_coding	YES	CCDS54009.1	ENSP00000219746	O15405		UPI00001972E7	NM_001080430.2	deleterious(0)	probably_damaging(0.996)	3/7		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	2			1	8.267e-06	8.549e-06	0	8.661e-05	0	0	0	0	0		PASS	GAGGCGTGATT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	52464133	52464133	G	A	1	0	0	0	0	1	0	0	0	16857	1145	40	1		1	TOX3	16	52464133	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2825786	52464133	37874212	356	1529											
DPEP2	64174	BI	GRCh38	chr16	67992144	67992144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctgctccagggtgaggCgcagggcatcccggtcctgg	15	13	1	1	rs768027580	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.440G>A	p.Arg147His	p.R147H	ENST00000393847	4/11	57	27	30	78			DPEP2,missense_variant,p.R147H,ENST00000572888,,c.440G>A,MODERATE,YES,deleterious(0.04),possibly_damaging(0.806),-1;DPEP2,missense_variant,p.R147H,ENST00000393847,NM_022355.3,c.440G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.806),-1;DPEP2,missense_variant,p.R31H,ENST00000573808,,c.92G>A,MODERATE,,tolerated(0.07),benign(0.063),-1;DUS2,intron_variant,,ENST00000571081,,c.-99+4191C>T,MODIFIER,,,,1;DUS2,intron_variant,,ENST00000570709,,c.-19+4191C>T,MODIFIER,,,,1;DPEP2,intron_variant,,ENST00000575510,,c.39-960G>A,MODIFIER,,,,-1;DPEP2,downstream_gene_variant,,ENST00000572624,,,MODIFIER,,,,-1;DUS2,upstream_gene_variant,,ENST00000575677,,,MODIFIER,,,,1;DPEP2,downstream_gene_variant,,ENST00000574865,,,MODIFIER,,,,-1;DPEP2,missense_variant,p.R147H,ENST00000575203,,c.440G>A,MODERATE,,deleterious(0.05),benign(0.344),-1;DPEP2,non_coding_transcript_exon_variant,,ENST00000268795,,n.492G>A,MODIFIER,,,,-1;DPEP2,downstream_gene_variant,,ENST00000574316,,,MODIFIER,,,,-1	T	ENST00000393847	Transcript	missense_variant	missense_variant	564/1697	440/1461	147/486	R/H	cGc/cAc	rs768027580	1		-1	DPEP2	HGNC	HGNC:23028	protein_coding		CCDS10857.1	ENSP00000377430	Q9H4A9	A0A024R6Y5	UPI000007277C	NM_022355.3	deleterious(0.04)	possibly_damaging(0.806)	4/11		Pfam_domain:PF01244;Superfamily_domains:SSF51556																	MODERATE		SNV	1			1	2.471e-05	2.472e-05	0	0.0001728	0	0	1.499e-05	0	0		PASS	TGAGGCGCAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	67992144	67992144	C	T	1	0	0	0	0	1	0	0	0	4528	768	27	2		2	DPEP2	16	67992144	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15528011	67992144	22346201	357	1530											
SMPD3	55512	BI	GRCh38	chr16	68371449	68371449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgccaccgatgcgcaCgatgcaggcatcctccgggc	11	18	0	0	rs200081668	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.733G>A	p.Val245Met	p.V245M	ENST00000219334	3/9	15	3	12	28			SMPD3,missense_variant,p.V245M,ENST00000219334,NM_018667.3,c.733G>A,MODERATE,YES,tolerated(0.12),benign(0.066),-1;SMPD3,missense_variant,p.V245M,ENST00000563226,,c.733G>A,MODERATE,,tolerated(0.14),benign(0.201),-1;SMPD3,missense_variant,p.V245M,ENST00000568373,,c.733G>A,MODERATE,,tolerated(0.13),possibly_damaging(0.696),-1;SMPD3,upstream_gene_variant,,ENST00000574662,,,MODIFIER,,,,-1;SMPD3,downstream_gene_variant,,ENST00000561749,,,MODIFIER,,,,-1;SMPD3,intron_variant,,ENST00000566723,,n.406-357G>A,MODIFIER,,,,-1;RP11-71L14.3,upstream_gene_variant,,ENST00000624251,,,MODIFIER,YES,,,-1;SMPD3,upstream_gene_variant,,ENST00000566009,,,MODIFIER,,,,-1;SMPD3,upstream_gene_variant,,ENST00000566466,,,MODIFIER,,,,-1;SMPD3,upstream_gene_variant,,ENST00000563455,,,MODIFIER,,,,-1;SMPD3,upstream_gene_variant,,ENST00000567811,,,MODIFIER,,,,-1;SMPD3,upstream_gene_variant,,ENST00000567223,,,MODIFIER,,,,-1	T	ENST00000219334	Transcript	missense_variant	missense_variant	1337/5453	733/1968	245/655	V/M	Gtg/Atg	rs200081668	1		-1	SMPD3	HGNC	HGNC:14240	protein_coding	YES	CCDS10867.1	ENSP00000219334	Q9NY59		UPI0000037769	NM_018667.3	tolerated(0.12)	benign(0.066)	3/9																			MODERATE	1	SNV	1			1	1.661e-05	9.417e-06	0	0	0.0001225	0	0	0	0		PASS	GCGCACGATGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1128901	True	Unknown	T	3	4	80	68371449	68371449	C	T	1	0	0	0	0	1	0	0	0	15127	536	19	1		1	SMPD3	16	68371449	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	379305	68371449	21966896	358	1531											
CDH3	1001	BI	GRCh38	chr16	68698280	68698280	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggctccgacgccgcGtccctgagctccctcacctc	11	20	1	1	rs533035937	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2370G>A	p.=	p.A790A	ENST00000264012	16/16	103	96	7	131			CDH3,synonymous_variant,p.A790A,ENST00000264012,NM_001793.4,c.2370G>A,LOW,YES,,,1;CDH3,3_prime_UTR_variant,,ENST00000429102,,c.*113G>A,MODIFIER,,,,1;CDH3,intron_variant,,ENST00000569080,,c.99+2357G>A,MODIFIER,,,,1;CDH3,downstream_gene_variant,,ENST00000568292,,,MODIFIER,,,,1;CDH3,downstream_gene_variant,,ENST00000569117,,,MODIFIER,,,,1;CDH3,3_prime_UTR_variant,,ENST00000542274,,c.*2108G>A,MODIFIER,,,,1;CDH3,3_prime_UTR_variant,,ENST00000567674,,c.*575G>A,MODIFIER,,,,1	A	ENST00000264012	Transcript	synonymous_variant	synonymous_variant	2914/4929	2370/2490	790/829	A	gcG/gcA	rs533035937	1		1	CDH3	HGNC	HGNC:1762	protein_coding	YES	CCDS10868.1	ENSP00000264012	P22223		UPI0000161BFF	NM_001793.4			16/16		Low_complexity_(Seg):Seg;Pfam_domain:PF01049																	LOW	1	SNV	1			1	1.647e-05	1.649e-05	0	0	0.0002311	0	0	0	0		PASS	GCCGCGTCCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	68698280	68698280	G	A	1	0	0	0	0	0	0	0	1	2814	1132	40	1		1	CDH3	16	68698280	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	326831	68698280	21640065	359	1532											
ZFHX3	463	BI	GRCh38	chr16	72959267	72959267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcacaaacgaacggacGtacccaaaggagagtttgca	12	9	1	1	rs183134469	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.879C>T	p.=	p.Y293Y	ENST00000268489	2/10	62	30	32	88			ZFHX3,synonymous_variant,p.Y293Y,ENST00000268489,NM_006885.3,c.879C>T,LOW,YES,,,-1;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.1,c.-23-8302C>T,MODIFIER,,,,-1	A	ENST00000268489	Transcript	synonymous_variant	synonymous_variant	1552/16064	879/11112	293/3703	Y	taC/taT	rs183134469	1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3			2/10		SMART_domains:SM00355		0	0		0.001	0	0										LOW	1	SNV	1			1	4.942e-05	4.942e-05	0	0	0.0005779	0	1.498e-05	0	0		PASS	CGGACGTACCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	2	1	80	72959267	72959267	G	A	1	0	0	0	0	0	0	0	1	18212	1140	40	1		1	ZFHX3	16	72959267	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4260987	72959267	17379078	360	1533											
ZFHX3	463	BI	GRCh38	chr16	72959756	72959756	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtagacgatctccccGgccaggttctccacgtcact	11	15	3	1	rs144573608	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.390C>T	p.=	p.A130A	ENST00000268489	2/10	44	21	23	79			ZFHX3,synonymous_variant,p.A130A,ENST00000268489,NM_006885.3,c.390C>T,LOW,YES,,,-1;ZFHX3,intron_variant,,ENST00000397992,NM_001164766.1,c.-23-8791C>T,MODIFIER,,,,-1	A	ENST00000268489	Transcript	synonymous_variant	synonymous_variant	1063/16064	390/11112	130/3703	A	gcC/gcT	rs144573608	1		-1	ZFHX3	HGNC	HGNC:777	protein_coding	YES	CCDS10908.1	ENSP00000268489	Q15911		UPI00001AE937	NM_006885.3			2/10										2e-04	1e-04								LOW	1	SNV	1			1	3.295e-05	3.417e-05	9.992e-05	0	0	0	4.639e-05	0	0		PASS	TCCCCGGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	72959756	72959756	G	A	1	0	0	0	0	0	0	0	1	18212	1103	39	2		2	ZFHX3	16	72959756	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	489	72959756	17378589	361	1534											
CLEC18B	497190	BI	GRCh38	chr16	74418161	74418161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccacttcaacaaaggaCgccaagcccgcgggcagcag	11	15	1	1	rs779514803	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.354G>A	p.=	p.A118A	ENST00000339953	3/13	32	22	10	51			CLEC18B,synonymous_variant,p.A118A,ENST00000617101,,c.354G>A,LOW,,,,-1;CLEC18B,synonymous_variant,p.A118A,ENST00000619275,,c.354G>A,LOW,,,,-1;CLEC18B,synonymous_variant,p.A118A,ENST00000339953,NM_001011880.2,c.354G>A,LOW,YES,,,-1;CLEC18B,synonymous_variant,p.A118A,ENST00000620745,,c.354G>A,LOW,,,,-1;RP11-252A24.5,upstream_gene_variant,,ENST00000567148,,,MODIFIER,YES,,,1;RP11-252A24.5,upstream_gene_variant,,ENST00000566506,,,MODIFIER,,,,1;CLEC18B,intron_variant,,ENST00000425714,,n.416+2340G>A,MODIFIER,,,,-1	T	ENST00000339953	Transcript	synonymous_variant	synonymous_variant	476/1865	354/1368	118/455	A	gcG/gcA	rs779514803	1		-1	CLEC18B	HGNC	HGNC:33849	protein_coding	YES	CCDS32484.1	ENSP00000341051	Q6UXF7		UPI000025210E	NM_001011880.2			3/13		Pfam_domain:PF00188;SMART_domains:SM00198;Superfamily_domains:SSF55797																	LOW	1	SNV	1			1	1.736e-05	1.853e-05	0	0	0	0	3.291e-05	0	0		PASS	AAGGACGCCAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	74418161	74418161	C	T	1	0	0	0	0	0	0	0	1	3269	523	19	1		1	CLEC18B	16	74418161	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1458405	74418161	15920184	362	1535											
WDR59	79726	BI	GRCh38	chr16	74885727	74885727	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctctctcagaccccaaCggtagaggatttccccatag	8	14	2	2	rs183855703	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2615G>A	p.Arg872His	p.R872H	ENST00000262144	25/26	58	30	28	53			WDR59,missense_variant,p.R872H,ENST00000262144,NM_030581.3,c.2615G>A,MODERATE,YES,deleterious(0),probably_damaging(0.983),-1;WDR59,missense_variant,p.R187H,ENST00000563797,,c.559G>A,MODERATE,,deleterious(0),unknown(0),-1;WDR59,downstream_gene_variant,,ENST00000569229,,,MODIFIER,,,,-1;WDR59,non_coding_transcript_exon_variant,,ENST00000569183,,n.509G>A,MODIFIER,,,,-1;WDR59,non_coding_transcript_exon_variant,,ENST00000569968,,n.269G>A,MODIFIER,,,,-1;WDR59,downstream_gene_variant,,ENST00000569788,,,MODIFIER,,,,-1;WDR59,downstream_gene_variant,,ENST00000563381,,,MODIFIER,,,,-1;WDR59,downstream_gene_variant,,ENST00000566924,,,MODIFIER,,,,-1;WDR59,downstream_gene_variant,,ENST00000567018,,,MODIFIER,,,,-1	T	ENST00000262144	Transcript	missense_variant	missense_variant	2746/5898	2615/2925	872/974	R/H	cGt/cAt	rs183855703	1		-1	WDR59	HGNC	HGNC:25706	protein_coding	YES	CCDS32488.1	ENSP00000262144	Q6PJI9		UPI000019839C	NM_030581.3	deleterious(0)	probably_damaging(0.983)	25/26										2e-04	1e-04								MODERATE	1	SNV	5			1	5.765e-05	5.767e-05	9.61e-05	8.64e-05	0.0003469	0	1.499e-05	0	6.057e-05		PASS	CCCAACGGTAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	74885727	74885727	C	T	1	0	0	0	0	1	0	0	0	17867	536	19	1		1	WDR59	16	74885727	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	467566	74885727	15452618	363	1536											
ZFP1	162239	BI	GRCh38	chr16	75170066	75170066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catacatcagaagattcacaCgggggagaaacgctatgagt	11	8	2	4	rs770638807	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.956C>T	p.Thr319Met	p.T319M	ENST00000393430	4/4	60	39	21	58			ZFP1,missense_variant,p.T319M,ENST00000393430,NM_153688.2,c.956C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZFP1,missense_variant,p.T286M,ENST00000332307,,c.857C>T,MODERATE,,deleterious(0),probably_damaging(1),1;ZFP1,missense_variant,p.T319M,ENST00000570010,,c.956C>T,MODERATE,,deleterious(0),probably_damaging(1),1;ZFP1,3_prime_UTR_variant,,ENST00000464850,,c.*742C>T,MODIFIER,,,,1;ZFP1,3_prime_UTR_variant,,ENST00000568079,,c.*742C>T,MODIFIER,,,,1;ZFP1,downstream_gene_variant,,ENST00000567481,,,MODIFIER,,,,1;ZFP1,downstream_gene_variant,,ENST00000563356,,,MODIFIER,,,,1	T	ENST00000393430	Transcript	missense_variant	missense_variant	1080/3250	956/1224	319/407	T/M	aCg/aTg	rs770638807	1		1	ZFP1	HGNC	HGNC:23328	protein_coding	YES	CCDS10914.2	ENSP00000377080	Q6P2D0		UPI00001FFC12	NM_153688.2	deleterious(0)	probably_damaging(1)	4/4		PROSITE_profiles:PS50157;Superfamily_domains:SSF57667																	MODERATE	1	SNV	1			1	1.647e-05	1.649e-05	0	8.645e-05	0	0	0	0	6.061e-05		PASS	TCACACGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4757621	True	Unknown	T	3	4	80	75170066	75170066	C	T	1	0	0	0	0	1	0	0	0	18214	536	19	1		1	ZFP1	16	75170066	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	284339	75170066	15168279	364	1537											
TAF1C	9013	BI	GRCh38	chr16	84179392	84179392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaggcttcccccaggCgctcactgagcttgtcctct	9	18	2	1	rs764248667	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2159G>A	p.Arg720His	p.R720H	ENST00000567759	14/14	41	23	18	36			TAF1C,missense_variant,p.R720H,ENST00000567759,NM_005679.3&NM_001243159.1,c.2159G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;TAF1C,missense_variant,p.R626H,ENST00000341690,NM_139353.2,c.1877G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TAF1C,missense_variant,p.R388H,ENST00000541676,NM_001243157.1,c.1163G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TAF1C,missense_variant,p.R694H,ENST00000566732,NM_001243156.1,c.2081G>A,MODERATE,,deleterious(0),probably_damaging(0.923),-1;TAF1C,missense_variant,p.R388H,ENST00000570117,NM_001243158.1,c.1163G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;TAF1C,missense_variant,p.R291H,ENST00000568265,,c.870G>A,MODERATE,,deleterious(0),unknown(0),-1;DNAAF1,downstream_gene_variant,,ENST00000378553,NM_178452.4,,MODIFIER,YES,,,1;DNAAF1,downstream_gene_variant,,ENST00000569735,,,MODIFIER,,,,1;TAF1C,downstream_gene_variant,,ENST00000564345,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000561955,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000564454,,,MODIFIER,,,,-1;DNAAF1,downstream_gene_variant,,ENST00000564928,,,MODIFIER,,,,1;DNAAF1,downstream_gene_variant,,ENST00000623406,,,MODIFIER,,,,1;DNAAF1,downstream_gene_variant,,ENST00000563818,,,MODIFIER,,,,1;TAF1C,3_prime_UTR_variant,,ENST00000563428,,c.*1455G>A,MODIFIER,,,,-1;TAF1C,non_coding_transcript_exon_variant,,ENST00000564774,,n.3099G>A,MODIFIER,,,,-1;TAF1C,non_coding_transcript_exon_variant,,ENST00000564208,,n.2272G>A,MODIFIER,,,,-1;TAF1C,non_coding_transcript_exon_variant,,ENST00000544090,,n.2104G>A,MODIFIER,,,,-1;TAF1C,intron_variant,,ENST00000566903,,c.*437-107G>A,MODIFIER,,,,-1;DNAAF1,downstream_gene_variant,,ENST00000570298,,,MODIFIER,,,,1;DNAAF1,downstream_gene_variant,,ENST00000563093,,,MODIFIER,,,,1;TAF1C,downstream_gene_variant,,ENST00000537450,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000562330,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000565279,,,MODIFIER,,,,-1;DNAAF1,downstream_gene_variant,,ENST00000562024,,,MODIFIER,,,,1;TAF1C,downstream_gene_variant,,ENST00000570270,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000569505,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000569609,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000566183,,,MODIFIER,,,,-1;TAF1C,downstream_gene_variant,,ENST00000562445,,,MODIFIER,,,,-1	T	ENST00000567759	Transcript	missense_variant	missense_variant	2342/3879	2159/2610	720/869	R/H	cGc/cAc	rs764248667	1		-1	TAF1C	HGNC	HGNC:11534	protein_coding	YES	CCDS32496.1	ENSP00000455265	Q15572		UPI0000167B3A	NM_005679.3;NM_001243159.1	deleterious(0)	probably_damaging(0.999)	14/14		Low_complexity_(Seg):Seg																	MODERATE		SNV	2			1	4.126e-05	4.421e-05	0.000341	0	0	0.0001745	1.606e-05	0	0		panel_of_normals	CCAGGCGCTCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	84179392	84179392	C	T	1	0	0	0	0	1	0	0	0	15917	768	27	2		2	TAF1C	16	84179392	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	9009326	84179392	6158953	365	1538											
ADAD2	161931	BI	GRCh38	chr16	84196270	84196270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcccccggtggccccttccGaacccacccctgacacctgc	9	22	0	1	rs754189973	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1426G>A	p.Glu476Lys	p.E476K	ENST00000315906	8/10	70	60	10	95			ADAD2,missense_variant,p.E558K,ENST00000268624,NM_139174.3,c.1672G>A,MODERATE,YES,tolerated(0.09),benign(0.063),1;ADAD2,missense_variant,p.E476K,ENST00000315906,NM_001145400.1,c.1426G>A,MODERATE,,tolerated(0.14),benign(0.265),1;ADAD2,downstream_gene_variant,,ENST00000567685,,,MODIFIER,,,,1;RP11-486L19.2,intron_variant,,ENST00000536986,,n.172+612C>T,MODIFIER,,,,-1;RP11-486L19.2,intron_variant,,ENST00000565643,,n.172+612C>T,MODIFIER,,,,-1;RP11-486L19.2,intron_variant,,ENST00000569834,,n.171+612C>T,MODIFIER,,,,-1;RP11-486L19.2,upstream_gene_variant,,ENST00000561900,,,MODIFIER,YES,,,-1;ADAD2,downstream_gene_variant,,ENST00000567413,,,MODIFIER,,,,1;ADAD2,non_coding_transcript_exon_variant,,ENST00000564430,,n.2040G>A,MODIFIER,,,,1;ADAD2,non_coding_transcript_exon_variant,,ENST00000566526,,n.2024G>A,MODIFIER,,,,1;ADAD2,downstream_gene_variant,,ENST00000564169,,,MODIFIER,,,,1;ADAD2,downstream_gene_variant,,ENST00000569221,,,MODIFIER,,,,1;ADAD2,upstream_gene_variant,,ENST00000563849,,,MODIFIER,,,,1	A	ENST00000315906	Transcript	missense_variant	missense_variant	1478/1995	1426/1752	476/583	E/K	Gaa/Aaa	rs754189973	1		1	ADAD2	HGNC	HGNC:30714	protein_coding		CCDS45536.1	ENSP00000325153	Q8NCV1		UPI0000073CA5	NM_001145400.1	tolerated(0.14)	benign(0.265)	8/10		Pfam_domain:PF02137;PROSITE_profiles:PS50141;SMART_domains:SM00552																	MODERATE		SNV	1			1	2.473e-05	2.564e-05	0.0002141	0	0	0	1.567e-05	0	0		PASS	CTTCCGAACCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1380181	True	Unknown	A	3	1	80	84196270	84196270	G	A	1	0	0	0	0	1	0	0	0	276	1059	37	2		2	ADAD2	16	84196270	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16878	84196270	6142075	366	1539											
ATP2C2	9914	BI	GRCh38	chr16	84448604	84448604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcaccatgtacaacaaCgggggcatccccctgccgct	9	16	0	0	rs577350687	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1575C>T	p.=	p.N525N	ENST00000262429	17/27	58	37	21	84			ATP2C2,synonymous_variant,p.N525N,ENST00000416219,NM_001286527.1,c.1575C>T,LOW,YES,,,1;ATP2C2,synonymous_variant,p.N525N,ENST00000262429,NM_014861.2,c.1575C>T,LOW,,,,1;ATP2C2,non_coding_transcript_exon_variant,,ENST00000420010,,n.1248C>T,MODIFIER,,,,1;ATP2C2,non_coding_transcript_exon_variant,,ENST00000565631,,n.2066C>T,MODIFIER,,,,1;ATP2C2,upstream_gene_variant,,ENST00000567892,,,MODIFIER,,,,1	T	ENST00000262429	Transcript	synonymous_variant	synonymous_variant	1664/3376	1575/2841	525/946	N	aaC/aaT	rs577350687	1		1	ATP2C2	HGNC	HGNC:29103	protein_coding		CCDS42207.1	ENSP00000262429	O75185		UPI0000425C6A	NM_014861.2			17/27		Pfam_domain:PF00702;TIGRFAM_domain:TIGR01522;Prints_domain:PR00121;Superfamily_domains:SSF81665;Superfamily_domains:SSF81660;Superfamily_domains:SSF56784																	LOW		SNV	1			1	4.136e-05	4.146e-05	0	0	0	0.0003027	2.999e-05	0	6.094e-05		PASS	AACAACGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	84448604	84448604	C	T	1	0	0	0	0	0	0	0	1	1297	535	19	1		1	ATP2C2	16	84448604	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	252334	84448604	5889741	367	1540											
JPH3	57338	BI	GRCh38	chr16	87690283	87690283	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccggggcttgggggaCgaccaccgccccgaggaccg	17	16	0	0	rs749538454	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1923C>T	p.=	p.D641D	ENST00000284262	4/5	8	4	4	16			JPH3,synonymous_variant,p.D641D,ENST00000284262,NM_020655.3,c.1923C>T,LOW,YES,,,1;RP11-278A23.1,downstream_gene_variant,,ENST00000538868,,,MODIFIER,YES,,,-1;JPH3,non_coding_transcript_exon_variant,,ENST00000563609,,n.2217C>T,MODIFIER,,,,1;JPH3,non_coding_transcript_exon_variant,,ENST00000537256,,n.1637C>T,MODIFIER,,,,1	T	ENST00000284262	Transcript	synonymous_variant	synonymous_variant	2165/3985	1923/2247	641/748	D	gaC/gaT	rs749538454	1		1	JPH3	HGNC	HGNC:14203	protein_coding	YES	CCDS10962.1	ENSP00000284262	Q8WXH2		UPI000012DAC4	NM_020655.3			4/5		PIRSF_domain:PIRSF037387																	LOW	1	SNV	1			1	1.665e-05	3.58e-05	0	0	0	0	3.4e-05	0.002717	0		PASS	GGGGACGACCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM1380331	True	Unknown	T	2	4	80	87690283	87690283	C	T	1	0	0	0	0	0	0	0	1	7874	535	19	1		1	JPH3	16	87690283	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3241679	87690283	2648062	368	1541											
SPG7	6687	BI	GRCh38	chr16	89548085	89548085	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgtgcacactctcaacttCgagtacgccgtggagcgcgt	11	14	1	0	rs770394077	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1635C>T	p.=	p.F545F	ENST00000268704	12/17	74	59	15	82			SPG7,missense_variant,p.S20L,ENST00000620811,,c.59C>T,MODERATE,,deleterious_low_confidence(0),possibly_damaging(0.514),1;SPG7,synonymous_variant,p.F545F,ENST00000268704,NM_003119.2,c.1635C>T,LOW,YES,,,1;SPG7,upstream_gene_variant,,ENST00000566682,,,MODIFIER,,,,1;SPG7,synonymous_variant,p.F60F,ENST00000561911,,c.180C>T,LOW,,,,1;SPG7,synonymous_variant,p.F78F,ENST00000566221,,c.233C>T,LOW,,,,1;SPG7,3_prime_UTR_variant,,ENST00000569820,,c.*308C>T,MODIFIER,,,,1;SPG7,non_coding_transcript_exon_variant,,ENST00000563218,,n.361C>T,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000561702,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000565370,,,MODIFIER,,,,1;SPG7,upstream_gene_variant,,ENST00000568205,,,MODIFIER,,,,1;SPG7,downstream_gene_variant,,ENST00000561945,,,MODIFIER,,,,1	T	ENST00000268704	Transcript	synonymous_variant	synonymous_variant	1650/3076	1635/2388	545/795	F	ttC/ttT	rs770394077	1		1	SPG7	HGNC	HGNC:11237	protein_coding	YES	CCDS10977.1	ENSP00000268704	Q9UQ90		UPI0000031FAA	NM_003119.2			12/17		Pfam_domain:PF01434;TIGRFAM_domain:TIGR01241;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1	3.295e-05	3.352e-05	0	0	0.0003533	0	1.532e-05	0	0		PASS	AACTTCGAGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	89548085	89548085	C	T	1	0	0	0	0	0	0	0	1	15395	893	31	2		2	SPG7	16	89548085	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1857802	89548085	790260	369	1542											
PRPF8	10594	BI	GRCh38	chr17	1656478	1656478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctttaaggatgagatcccCgaatttttccaccttgagac	9	10	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5707G>A	p.Gly1903Arg	p.G1903R	ENST00000304992	36/43	72	58	14	79			PRPF8,missense_variant,p.G1903R,ENST00000572621,,c.5707G>A,MODERATE,YES,tolerated(0.11),probably_damaging(0.988),-1;PRPF8,missense_variant,p.G1903R,ENST00000304992,NM_006445.3,c.5707G>A,MODERATE,,tolerated(0.11),probably_damaging(0.988),-1;PRPF8,downstream_gene_variant,,ENST00000573725,,,MODIFIER,,,,-1;PRPF8,upstream_gene_variant,,ENST00000575116,,,MODIFIER,,,,-1;PRPF8,upstream_gene_variant,,ENST00000576585,,,MODIFIER,,,,-1;PRPF8,downstream_gene_variant,,ENST00000573681,,,MODIFIER,,,,-1;PRPF8,upstream_gene_variant,,ENST00000572723,,,MODIFIER,,,,-1;PRPF8,downstream_gene_variant,,ENST00000572445,,,MODIFIER,,,,-1	T	ENST00000304992	Transcript	missense_variant	missense_variant	5821/7295	5707/7008	1903/2335	G/R	Ggg/Agg		1		-1	PRPF8	HGNC	HGNC:17340	protein_coding		CCDS11010.1	ENSP00000304350	Q6P2Q9		UPI000006F2DD	NM_006445.3	tolerated(0.11)	probably_damaging(0.988)	36/43		Pfam_domain:PF12134																	MODERATE		SNV	1			1											panel_of_normals	ATCCCCGAATT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	1656478	1656478	C	T	1	0	0	0	0	1	0	0	0	12711	652	23	2		2	PRPF8	17	1656478	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1656478	81600963	370	1543											
EIF5A	1984	BI	GRCh38	chr17	7309794	7309794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactggcaagcacggccaCgccaaggttagaatttcacc	10	12	1	2	rs764222766	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.159C>T	p.=	p.H53H	ENST00000336458	2/6	62	56	6	74			EIF5A,synonymous_variant,p.H53H,ENST00000336458,NM_001970.4,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000576930,,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000571955,,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000416016,NM_001143762.1,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000419711,NM_001143761.1,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H83H,ENST00000336452,NM_001143760.1,c.249C>T,LOW,YES,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000573542,,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000572815,,c.159C>T,LOW,,,,1;EIF5A,synonymous_variant,p.H53H,ENST00000573714,,c.159C>T,LOW,,,,1;GPS2,downstream_gene_variant,,ENST00000380728,,,MODIFIER,YES,,,-1;GPS2,downstream_gene_variant,,ENST00000389167,NM_004489.4,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000570780,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000577040,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000573684,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000574458,,,MODIFIER,,,,-1;EIF5A,non_coding_transcript_exon_variant,,ENST00000355068,,n.264C>T,MODIFIER,,,,1;EIF5A,non_coding_transcript_exon_variant,,ENST00000575001,,n.302C>T,MODIFIER,,,,1;RP11-542C16.2,downstream_gene_variant,,ENST00000575474,,,MODIFIER,YES,,,-1;RP11-542C16.2,downstream_gene_variant,,ENST00000315601,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000571697,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000571569,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000572172,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000572363,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000571098,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000572707,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000573059,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000573807,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000571695,,,MODIFIER,,,,-1;GPS2,downstream_gene_variant,,ENST00000574201,,,MODIFIER,,,,-1	T	ENST00000336458	Transcript	synonymous_variant	synonymous_variant	560/1511	159/465	53/154	H	caC/caT	rs764222766	1		1	EIF5A	HGNC	HGNC:3300	protein_coding		CCDS11099.1	ENSP00000336776	P63241		UPI0000006BEE	NM_001970.4			2/6		Pfam_domain:PF00467;TIGRFAM_domain:TIGR00037;Superfamily_domains:SSF50104;PIRSF_domain:PIRSF003025																	LOW		SNV	1			1	1.647e-05	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05		PASS	GGCCACGCCAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	7309794	7309794	C	T	1	0	0	0	0	0	0	0	1	4874	535	19	1		1	EIF5A	17	7309794	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5653316	7309794	75947647	371	1544											
FXR2	9513	BI	GRCh38	chr17	7595872	7595872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacccaactcaatggcGgtcaccccaggtacttttcg	7	15	4	0	rs779325705	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.783C>T	p.=	p.T261T	ENST00000250113	8/17	52	42	10	58			FXR2,synonymous_variant,p.T261T,ENST00000250113,NM_004860.3,c.783C>T,LOW,YES,,,-1;MPDU1,downstream_gene_variant,,ENST00000423172,,,MODIFIER,,,,1;MPDU1,downstream_gene_variant,,ENST00000584378,,,MODIFIER,,,,1;FXR2,upstream_gene_variant,,ENST00000573057,,,MODIFIER,,,,-1;FXR2,non_coding_transcript_exon_variant,,ENST00000574490,,n.609C>T,MODIFIER,,,,-1;FXR2,non_coding_transcript_exon_variant,,ENST00000573957,,n.151C>T,MODIFIER,,,,-1;FXR2,upstream_gene_variant,,ENST00000571079,,,MODIFIER,,,,-1	A	ENST00000250113	Transcript	synonymous_variant	synonymous_variant	1118/2957	783/2022	261/673	T	acC/acT	rs779325705	1		-1	FXR2	HGNC	HGNC:4024	protein_coding	YES	CCDS45604.1	ENSP00000250113	P51116		UPI0000072727	NM_004860.3			8/17		Pfam_domain:PF00013;PROSITE_profiles:PS50084;SMART_domains:SM00322;Superfamily_domains:SSF54791																	LOW	1	SNV	1			1	4.136e-05	4.141e-05	0.0001021	0	0	0	4.497e-05	0	6.056e-05		PASS	ATGGCGGTCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	7595872	7595872	G	A	1	0	0	0	0	0	0	0	1	5987	1103	39	2		2	FXR2	17	7595872	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	286078	7595872	75661569	372	1545											
DNAH2	146754	BI	GRCh38	chr17	7792796	7792796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctccatcgcccagagcGttctgcagtccctgccctcc	8	19	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.7285G>A	p.Val2429Ile	p.V2429I	ENST00000389173	46/85	38	28	10	64			DNAH2,missense_variant,p.V2429I,ENST00000572933,,c.7285G>A,MODERATE,YES,,benign(0.396),1;DNAH2,missense_variant,p.V2429I,ENST00000389173,NM_020877.2,c.7285G>A,MODERATE,,,benign(0.396),1	A	ENST00000389173	Transcript	missense_variant	missense_variant	7299/13505	7285/13284	2429/4427	V/I	Gtt/Att		1		1	DNAH2	HGNC	HGNC:2948	protein_coding		CCDS32551.1	ENSP00000373825	Q9P225		UPI00005B2F0D	NM_020877.2		benign(0.396)	46/85		Pfam_domain:PF07728;Pfam_domain:PF00004;SMART_domains:SM00382;Superfamily_domains:SSF52540;Superfamily_domains:SSF52540																	MODERATE		SNV	2			1											panel_of_normals	AGAGCGTTCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	7792796	7792796	G	A	1	0	0	0	0	1	0	0	0	4417	1145	40	1		1	DNAH2	17	7792796	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	196924	7792796	75464645	373	1546											
ARHGEF15	22899	BI	GRCh38	chr17	8318575	8318575	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctccccttacctagatcatCgagcgttgcagcgctgaggt	11	13	1	2	rs779827070	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1785C>T	p.=	p.I595I	ENST00000361926	11/16	16	8	8	25			ARHGEF15,synonymous_variant,p.I595I,ENST00000361926,NM_173728.3,c.1785C>T,LOW,YES,,,1;ARHGEF15,synonymous_variant,p.I595I,ENST00000421050,NM_025014.1,c.1785C>T,LOW,,,,1;AC135178.7,non_coding_transcript_exon_variant,,ENST00000458568,,n.138G>A,MODIFIER,YES,,,-1;ARHGEF15,upstream_gene_variant,,ENST00000582060,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000455564,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000581809,,,MODIFIER,,,,1;ARHGEF15,downstream_gene_variant,,ENST00000578286,,,MODIFIER,,,,1	T	ENST00000361926	Transcript	synonymous_variant	synonymous_variant	1895/4159	1785/2526	595/841	I	atC/atT	rs779827070	1		1	ARHGEF15	HGNC	HGNC:15590	protein_coding	YES	CCDS11139.1	ENSP00000355026	O94989		UPI000013D2C0	NM_173728.3			11/16		Pfam_domain:PF00621;PROSITE_profiles:PS50010;SMART_domains:SM00325;Superfamily_domains:SSF48065																	LOW	1	SNV	1			1	4.942e-05	4.971e-05	0	0.000346	0	0	3.014e-05	0	0		PASS	ATCATCGAGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3821101	True	Unknown	T	2	4	80	8318575	8318575	C	T	1	0	0	0	0	0	0	0	1	1028	898	31	2		2	ARHGEF15	17	8318575	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	525779	8318575	74938866	374	1547											
CFAP52	146845	BI	GRCh38	chr17	9628802	9628802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgacttcatgagggacGgcaaaagcatcatttcaggt	11	9	3	1	rs780939657	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1156G>A	p.Gly386Ser	p.G386S	ENST00000352665	9/14	61	47	14	82			CFAP52,missense_variant,p.G386S,ENST00000352665,NM_145054.4,c.1156G>A,MODERATE,YES,deleterious(0),probably_damaging(0.992),1;CFAP52,missense_variant,p.G318S,ENST00000396219,NM_001080556.1,c.952G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;CFAP52,upstream_gene_variant,,ENST00000576714,,,MODIFIER,,,,1;CFAP52,3_prime_UTR_variant,,ENST00000576630,,c.*1217G>A,MODIFIER,,,,1	A	ENST00000352665	Transcript	missense_variant	missense_variant	1225/2193	1156/1863	386/620	G/S	Ggc/Agc	rs780939657	1		1	CFAP52	HGNC	HGNC:16053	protein_coding	YES	CCDS11149.2	ENSP00000339449	Q8N1V2		UPI00001AECC1	NM_145054.4	deleterious(0)	probably_damaging(0.992)	9/14		PROSITE_profiles:PS50294;SMART_domains:SM00320;Superfamily_domains:SSF50978																	MODERATE	1	SNV	1			1	2.471e-05	2.472e-05	0	0	0	0	0	0	0.0001817		PASS	GGGACGGCAAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	9628802	9628802	G	A	1	0	0	0	0	1	0	0	0	3023	1116	39	2		2	CFAP52	17	9628802	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1310227	9628802	73628639	375	1548											
USP43	124739	BI	GRCh38	chr17	9728216	9728216	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgagaagtcagcatcgccGaggtccaacgtcgcccttcc	11	14	1	1	rs61729507	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2598G>A	p.=	p.P866P	ENST00000285199	15/15	31	26	5	25			USP43,synonymous_variant,p.P866P,ENST00000285199,NM_153210.4,c.2598G>A,LOW,YES,,,1;USP43,synonymous_variant,p.P861P,ENST00000570475,NM_001267576.1,c.2583G>A,LOW,,,,1;USP43,synonymous_variant,p.P653P,ENST00000574408,,c.1957G>A,LOW,,,,1;USP43,synonymous_variant,p.P391P,ENST00000573955,,c.1173G>A,LOW,,,,1;USP43,non_coding_transcript_exon_variant,,ENST00000570827,,n.2739G>A,MODIFIER,,,,1	A	ENST00000285199	Transcript	synonymous_variant	synonymous_variant	2694/4169	2598/3372	866/1123	P	ccG/ccA	rs61729507	1		1	USP43	HGNC	HGNC:20072	protein_coding	YES	CCDS45610.1	ENSP00000285199	Q70EL4		UPI0000047AFB	NM_153210.4			15/15			0.0012	0.0015	0.0058		0	0	0	0.001	6e-04								LOW	1	SNV	1			1	0.001091	0.001107	0.0006266	0.003949	0	0.0003053	0.001136	0.004556	0		panel_of_normals	TCGCCGAGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	9728216	9728216	G	A	1	0	0	0	0	0	0	0	1	17617	1045	37	2		2	USP43	17	9728216	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	99414	9728216	73529225	376	1549											
MED9	55090	BI	GRCh38	chr17	17491388	17491388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccggcatccacctgagccccGaacagcagcagcagcagctg	11	17	0	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.334G>A	p.Glu112Lys	p.E112K	ENST00000268711	2/2	56	31	25	102			MED9,missense_variant,p.E112K,ENST00000268711,NM_018019.2,c.334G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.998),1;RASD1,downstream_gene_variant,,ENST00000225688,NM_016084.4,,MODIFIER,YES,,,-1;RASD1,downstream_gene_variant,,ENST00000579152,NM_001199989.1,,MODIFIER,,,,-1;MED9,downstream_gene_variant,,ENST00000624097,,,MODIFIER,,,,1;MED9,3_prime_UTR_variant,,ENST00000581315,,c.*219G>A,MODIFIER,,,,1	A	ENST00000268711	Transcript	missense_variant	missense_variant	390/2228	334/441	112/146	E/K	Gaa/Aaa		1		1	MED9	HGNC	HGNC:25487	protein_coding	YES	CCDS11184.1	ENSP00000268711	Q9NWA0		UPI000006F39B	NM_018019.2	deleterious(0.01)	probably_damaging(0.998)	2/2		Low_complexity_(Seg):Seg;Pfam_domain:PF07544;Superfamily_domains:SSF140718																	MODERATE	1	SNV	1			1											PASS	GCCCCGAACAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM976108	True	Unknown	A	3	1	80	17491388	17491388	G	A	1	0	0	0	0	1	0	0	0	9393	1059	37	2		2	MED9	17	17491388	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7763172	17491388	65766053	377	1550											
MAP2K3	5606	BI	GRCh38	chr17	21298480	21298480	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccgcacccaaccccacGtgagtctgcctcagtttctc	6	20	3	1	rs368105298	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.116+1G>A		p.X39_splice	ENST00000342679		112	91	21	152			MAP2K3,splice_donor_variant,p.X39_splice,ENST00000342679,NM_145109.2,c.116+1G>A,HIGH,YES,,,1;MAP2K3,splice_donor_variant,p.X10_splice,ENST00000361818,NM_002756.4,c.29+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,p.X10_splice,ENST00000613338,,c.29+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,p.X10_splice,ENST00000316920,,c.29+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,p.X10_splice,ENST00000526076,,c.29+1G>A,HIGH,,,,1;MAP2K3,downstream_gene_variant,,ENST00000529517,,,MODIFIER,,,,1;MAP2K3,downstream_gene_variant,,ENST00000627447,,,MODIFIER,,,,1;MAP2K3,splice_donor_variant,,ENST00000395491,,c.*100+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,p.X39_splice,ENST00000496046,,c.116+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,,ENST00000583508,,n.326+1G>A,HIGH,,,,1;MAP2K3,splice_donor_variant,,ENST00000479129,,c.*70+1G>A,HIGH,,,,1;MAP2K3,downstream_gene_variant,,ENST00000483928,,,MODIFIER,,,,1	A	ENST00000342679	Transcript	splice_donor_variant	splice_donor_variant	-/2303	116/1044	39/347			rs368105298	1		1	MAP2K3	HGNC	HGNC:6843	protein_coding	YES	CCDS11217.1	ENSP00000345083	P46734	Q6FI23		NM_145109.2				2/11									2e-04	0								HIGH	1	SNV	1			1	4.118e-05	4.118e-05	0.0002883	0	0	0	1.498e-05	0	6.056e-05		PASS	CCCACGTGAGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	NonExonic	COSM3402664;COSM3402665	True	Unknown	A	5	1	80	21298480	21298480	G	A	1	0	0	0	0	0	0	1	0	9160	1159	40	1		1	MAP2K3	17	21298480	Splice_Site	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3807092	21298480	61958961	378	1551											
SPAG5	10615	BI	GRCh38	chr17	28585864	28585864	+	Splice_Region	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaatgcctgtcaccttacCgcatccttgcctctgagagc	7	15	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1740G>A	p.=	p.A580A	ENST00000321765	7/24	130	105	25	149			SPAG5,splice_region_variant,p.A580A,ENST00000321765,NM_006461.3,c.1740G>A,LOW,YES,,,-1;SPAG5,splice_region_variant,p.A120A,ENST00000584206,,c.359G>A,LOW,,,,-1;RP11-192H23.4,intron_variant,,ENST00000531839,,c.525-1612G>A,MODIFIER,YES,,,-1;SPAG5,splice_region_variant,p.A45A,ENST00000580083,,c.135G>A,LOW,,,,-1;RP11-192H23.4,intron_variant,,ENST00000481916,,c.*1195+18187G>A,MODIFIER,,,,-1;SPAG5,upstream_gene_variant,,ENST00000378976,,,MODIFIER,,,,-1;SPAG5,upstream_gene_variant,,ENST00000577259,,,MODIFIER,,,,-1;SPAG5,upstream_gene_variant,,ENST00000578230,,,MODIFIER,,,,-1	T	ENST00000321765	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	2073/4040	1740/3582	580/1193	A	gcG/gcA		1		-1	SPAG5	HGNC	HGNC:13452	protein_coding	YES	CCDS32594.1	ENSP00000323300	Q96R06		UPI0000073414	NM_006461.3			7/24																			LOW	1	SNV	1			1											panel_of_normals	CTTACCGCATC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	5	4	80	28585864	28585864	C	T	1	0	0	0	0	0	0	1	0	15312	666	23	2		2	SPAG5	17	28585864	Splice_Region	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7287384	28585864	54671577	379	1552											
NUFIP2	57532	BI	GRCh38	chr17	29286299	29286299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctagtccgtttctccagctcGtaagccttgggaaacacagg	10	12	1	0	rs150088850	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1695C>T	p.=	p.Y565Y	ENST00000225388	2/4	82	64	18	81			NUFIP2,synonymous_variant,p.Y565Y,ENST00000225388,NM_020772.2,c.1695C>T,LOW,YES,,,-1;NUFIP2,intron_variant,,ENST00000579665,,c.277+7484C>T,MODIFIER,,,,-1	A	ENST00000225388	Transcript	synonymous_variant	synonymous_variant	1754/10850	1695/2088	565/695	Y	taC/taT	rs150088850	1		-1	NUFIP2	HGNC	HGNC:17634	protein_coding	YES	CCDS32600.1	ENSP00000225388	Q7Z417	A1L3A7	UPI00001B078D	NM_020772.2			2/4										0	2e-04								LOW	1	SNV	1			1	1.647e-05	1.647e-05	0	0	0	0	0	0	0.0001211		PASS	AGCTCGTAAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM560461	True	Unknown	A	2	1	80	29286299	29286299	G	A	1	0	0	0	0	0	0	0	1	10813	1140	40	1		1	NUFIP2	17	29286299	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	700435	29286299	53971142	380	1553											
GIT1	28964	BI	GRCh38	chr17	29575139	29575139	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttctctgagcagggcacGaagctgcggggagaagggag	17	8	2	2	rs745617945		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2013C>T	p.=	p.F671F	ENST00000225394	19/20	52	35	17	78			GIT1,synonymous_variant,p.F671F,ENST00000225394,NM_014030.3,c.2013C>T,LOW,,,,-1;GIT1,synonymous_variant,p.F680F,ENST00000394869,NM_001085454.1,c.2040C>T,LOW,YES,,,-1;GIT1,synonymous_variant,p.F657F,ENST00000581348,,c.1971C>T,LOW,,,,-1;GIT1,synonymous_variant,p.F671F,ENST00000579937,,c.2013C>T,LOW,,,,-1;GIT1,synonymous_variant,p.F134F,ENST00000578266,,c.402C>T,LOW,,,,-1;TP53I13,downstream_gene_variant,,ENST00000301057,NM_138349.2,,MODIFIER,YES,,,1;TP53I13,downstream_gene_variant,,ENST00000578749,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000581411,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000580183,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000582829,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000583940,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000585148,,,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000378818,,,MODIFIER,,,,1;ABHD15-AS1,intron_variant,,ENST00000581474,,n.153+14440G>A,MODIFIER,YES,,,1;RP11-68I3.4,downstream_gene_variant,,ENST00000579050,,,MODIFIER,YES,,,1;GIT1,3_prime_UTR_variant,,ENST00000578670,,c.*7C>T,MODIFIER,,,,-1;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,,n.1962C>T,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000579674,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000491377,,,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000577934,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000581925,,,MODIFIER,,,,-1;GIT1,downstream_gene_variant,,ENST00000586574,,,MODIFIER,,,,-1	A	ENST00000225394	Transcript	synonymous_variant	synonymous_variant	2262/3768	2013/2286	671/761	F	ttC/ttT	rs745617945	1		-1	GIT1	HGNC	HGNC:4272	protein_coding		CCDS11250.1	ENSP00000225394	Q9Y2X7		UPI000013C867	NM_014030.3			19/20		Pfam_domain:PF12205																	LOW		SNV	1			1	8.238e-06	8.577e-06	0	0	0	0	1.528e-05	0	0		PASS	GGCACGAAGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	29575139	29575139	G	A	1	0	0	0	0	0	0	0	1	6278	1072	37	2		2	GIT1	17	29575139	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	288840	29575139	53682302	381	1554											
GIT1	28964	BI	GRCh38	chr17	29576343	29576343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcggtgtgtgctcccGcctggcgccatgggtgtgtg	16	13	0	0	rs768836653		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1488C>T	p.=	p.G496G	ENST00000225394	14/20	56	48	8	101			GIT1,synonymous_variant,p.G496G,ENST00000225394,NM_014030.3,c.1488C>T,LOW,,,,-1;GIT1,synonymous_variant,p.G505G,ENST00000394869,NM_001085454.1,c.1515C>T,LOW,YES,,,-1;GIT1,synonymous_variant,p.G505G,ENST00000581348,,c.1515C>T,LOW,,,,-1;GIT1,synonymous_variant,p.G496G,ENST00000579937,,c.1488C>T,LOW,,,,-1;TP53I13,downstream_gene_variant,,ENST00000301057,NM_138349.2,,MODIFIER,YES,,,1;TP53I13,downstream_gene_variant,,ENST00000578749,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000581411,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000580183,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000582829,,,MODIFIER,,,,1;TP53I13,downstream_gene_variant,,ENST00000583940,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000585148,,,MODIFIER,,,,-1;GIT1,upstream_gene_variant,,ENST00000578266,,,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000378818,,,MODIFIER,,,,1;ABHD15-AS1,intron_variant,,ENST00000581474,,n.153+15644G>A,MODIFIER,YES,,,1;GIT1,synonymous_variant,p.G31G,ENST00000578670,,c.92C>T,LOW,,,,-1;GIT1,non_coding_transcript_exon_variant,,ENST00000473217,,n.1278C>T,MODIFIER,,,,-1;GIT1,non_coding_transcript_exon_variant,,ENST00000491377,,n.441C>T,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000579674,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000579536,,,MODIFIER,,,,-1;TP53I13,downstream_gene_variant,,ENST00000577934,,,MODIFIER,,,,1;GIT1,downstream_gene_variant,,ENST00000581925,,,MODIFIER,,,,-1;GIT1,downstream_gene_variant,,ENST00000586574,,,MODIFIER,,,,-1	A	ENST00000225394	Transcript	synonymous_variant	synonymous_variant	1737/3768	1488/2286	496/761	G	ggC/ggT	rs768836653	1		-1	GIT1	HGNC	HGNC:4272	protein_coding		CCDS11250.1	ENSP00000225394	Q9Y2X7		UPI000013C867	NM_014030.3			14/20																			LOW		SNV	1			1	8.237e-06	8.298e-06	0	0	0	0	1.513e-05	0	0		PASS	CTCCCGCCTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	29576343	29576343	G	A	1	0	0	0	0	0	0	0	1	6278	1074	38	2		2	GIT1	17	29576343	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1204	29576343	53681098	382	1555											
CSF3	1440	BI	GRCh38	chr17	40016854	40016854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggtgccatgccggccttCgcctctgctttccagcgccg	12	17	1	0	rs774912212	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.519C>T	p.=	p.F173F	ENST00000225474	5/5	47	41	6	48			CSF3,synonymous_variant,p.F166F,ENST00000331769,,c.498C>T,LOW,,,,1;CSF3,synonymous_variant,p.F170F,ENST00000394149,NM_172219.2,c.510C>T,LOW,,,,1;CSF3,synonymous_variant,p.F173F,ENST00000225474,NM_000759.3,c.519C>T,LOW,YES,,,1;CSF3,synonymous_variant,p.F130F,ENST00000577675,,c.390C>T,LOW,,,,1;CSF3,synonymous_variant,p.F137F,ENST00000394148,NM_001178147.1&NM_172220.2,c.411C>T,LOW,,,,1;CSF3,synonymous_variant,p.F134F,ENST00000583218,,c.402C>T,LOW,,,,1;MED24,downstream_gene_variant,,ENST00000394126,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000394128,NM_014815.3,,MODIFIER,YES,,,-1;MED24,downstream_gene_variant,,ENST00000394127,NM_001079518.1,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000356271,NM_001267797.1,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000501516,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000422942,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000614384,,,MODIFIER,,,,-1;RP11-387H17.6,upstream_gene_variant,,ENST00000583462,,,MODIFIER,YES,,,-1;RP11-387H17.6,upstream_gene_variant,,ENST00000584649,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000470126,,,MODIFIER,,,,-1;CSF3,3_prime_UTR_variant,,ENST00000579852,,c.*181C>T,MODIFIER,,,,1;CSF3,non_coding_transcript_exon_variant,,ENST00000479880,,n.858C>T,MODIFIER,,,,1;MED24,downstream_gene_variant,,ENST00000535508,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000491466,,,MODIFIER,,,,-1;MED24,downstream_gene_variant,,ENST00000579364,,,MODIFIER,,,,-1;CSF3,downstream_gene_variant,,ENST00000582798,,,MODIFIER,,,,1	T	ENST00000225474	Transcript	synonymous_variant	synonymous_variant	550/1509	519/624	173/207	F	ttC/ttT	rs774912212	1		1	CSF3	HGNC	HGNC:2438	protein_coding	YES	CCDS11357.1	ENSP00000225474	P09919		UPI0000128525	NM_000759.3			5/5		Pfam_domain:PF00489;SMART_domains:SM00126;Superfamily_domains:SSF47266;PIRSF_domain:PIRSF001935																	LOW	1	SNV	1			1	0.000486	0.0004881	0	0.005099	0	0	0	0	0		PASS	GCCTTCGCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM1302754	True	Unknown	T	2	4	80	40016854	40016854	C	T	1	0	0	0	0	0	0	0	1	3737	883	31	2		2	CSF3	17	40016854	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10440511	40016854	43240587	383	1556											
CASC3	22794	BI	GRCh38	chr17	40164154	40164154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttctttcctgcaaccaCgggaacttcgaggtaggtat	10	11	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1459C>T	p.Arg487Trp	p.R487W	ENST00000264645	7/14	9	5	4	28			CASC3,missense_variant,p.R487W,ENST00000264645,NM_007359.4,c.1459C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.958),1;CASC3,downstream_gene_variant,,ENST00000584997,,,MODIFIER,,,,1;CASC3,missense_variant,p.R82W,ENST00000577605,,c.243C>T,MODERATE,,deleterious(0.01),probably_damaging(0.961),1;CASC3,3_prime_UTR_variant,,ENST00000474190,,c.*165C>T,MODIFIER,,,,1;CASC3,non_coding_transcript_exon_variant,,ENST00000418132,,n.1690C>T,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000394114,,,MODIFIER,,,,1;CASC3,downstream_gene_variant,,ENST00000581849,,,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000583902,,,MODIFIER,,,,1;CASC3,upstream_gene_variant,,ENST00000579238,,,MODIFIER,,,,1	T	ENST00000264645	Transcript	missense_variant	missense_variant	1685/4116	1459/2112	487/703	R/W	Cgg/Tgg		1		1	CASC3	HGNC	HGNC:17040	protein_coding	YES	CCDS11362.1	ENSP00000264645	O15234		UPI000000DAAA	NM_007359.4	deleterious_low_confidence(0)	probably_damaging(0.958)	7/14		PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	AACCACGGGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	40164154	40164154	C	T	1	0	0	0	0	1	0	0	0	2361	527	19	1		1	CASC3	17	40164154	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	147300	40164154	43093287	384	1557											
KAT2A	2648	BI	GRCh38	chr17	42119389	42119389	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacatgagtggtttcgtagCgggggaggctatcacagctc	15	8	1	2	rs781796429	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.929G>A	p.Arg310His	p.R310H	ENST00000225916	6/18	67	35	32	107			KAT2A,missense_variant,p.R310H,ENST00000225916,NM_021078.2,c.929G>A,MODERATE,YES,tolerated(0.56),benign(0.047),-1;HSPB9,upstream_gene_variant,,ENST00000565659,NM_033194.2,,MODIFIER,YES,,,1;CTD-2132N18.3,downstream_gene_variant,,ENST00000592574,,,MODIFIER,YES,,,-1;KAT2A,missense_variant,p.R228H,ENST00000465682,,c.683G>A,MODERATE,,tolerated(0.74),benign(0.047),-1;KAT2A,upstream_gene_variant,,ENST00000586972,,,MODIFIER,,,,-1;CTD-2132N18.3,downstream_gene_variant,,ENST00000592248,,,MODIFIER,,,,-1;CTD-2132N18.3,downstream_gene_variant,,ENST00000585562,,,MODIFIER,,,,-1;KAT2A,upstream_gene_variant,,ENST00000592310,,,MODIFIER,,,,-1;KAT2A,upstream_gene_variant,,ENST00000588759,,,MODIFIER,,,,-1	T	ENST00000225916	Transcript	missense_variant	missense_variant	983/3109	929/2514	310/837	R/H	cGc/cAc	rs781796429	1		-1	KAT2A	HGNC	HGNC:4201	protein_coding	YES	CCDS11417.1	ENSP00000225916	Q92830		UPI000000D978	NM_021078.2	tolerated(0.56)	benign(0.047)	6/18		Pfam_domain:PF06466;PIRSF_domain:PIRSF003048																	MODERATE	1	SNV	1			1	1.647e-05	1.652e-05	0	0	0	0	3.003e-05	0	0		PASS	CGTAGCGGGGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM5443039	True	Unknown	T	3	4	80	42119389	42119389	C	T	1	0	0	0	0	1	0	0	0	7895	768	27	2		2	KAT2A	17	42119389	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1955235	42119389	41138052	385	1558											
HSD17B1	3292	BI	GRCh38	chr17	42554479	42554479	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcccagaggaggtgcTggaccgcacggacatccaca	15	13	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.614T>C	p.Leu205Pro	p.L205P	ENST00000585807	5/6	16	4	12	29			HSD17B1,missense_variant,p.L205P,ENST00000585807,NM_000413.2,c.614T>C,MODERATE,YES,deleterious(0),possibly_damaging(0.833),1;HSD17B1,missense_variant,p.L206P,ENST00000225929,,c.617T>C,MODERATE,,deleterious(0),probably_damaging(0.919),1;RP11-400F19.6,non_coding_transcript_exon_variant,,ENST00000590513,,n.270A>G,MODIFIER,YES,,,-1;RP11-400F19.8,intron_variant,,ENST00000585572,,n.380-7140T>C,MODIFIER,YES,,,1;HSD17B1,3_prime_UTR_variant,,ENST00000590299,,c.*70T>C,MODIFIER,,,,1;HSD17B1,downstream_gene_variant,,ENST00000593215,,,MODIFIER,,,,1;HSD17B1,downstream_gene_variant,,ENST00000587280,,,MODIFIER,,,,1	C	ENST00000585807	Transcript	missense_variant	missense_variant	4334/4982	614/987	205/328	L/P	cTg/cCg		1		1	HSD17B1	HGNC	HGNC:5210	protein_coding	YES	CCDS11428.1	ENSP00000466799	P14061			NM_000413.2	deleterious(0)	possibly_damaging(0.833)	5/6		Superfamily_domains:SSF51735;PIRSF_domain:PIRSF000095																	MODERATE	1	SNV	1			1											PASS	GGTGCTGGACC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	C	3	2	80	42554479	42554479	T	C	1	0	0	0	0	1	0	0	0	7273	1580	55	4		4	HSD17B1	17	42554479	Missense_Mutation	SNP	T	TCGA-YZ-A985-01A-11D-A39W-08	435090	42554479	40702962	386	1559											
HDAC5	10014	BI	GRCh38	chr17	44085024	44085024	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaggaggggctcccttacctCgcacttgctaagcaggcctg	12	13	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2182G>A	p.Glu728Lys	p.E728K	ENST00000586802	15/27	46	29	17	42			HDAC5,missense_variant,p.E729K,ENST00000225983,NM_001015053.1,c.2185G>A,MODERATE,YES,deleterious(0.01),benign(0.016),-1;HDAC5,missense_variant,p.E728K,ENST00000586802,NM_005474.4,c.2182G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.889),-1;HDAC5,intron_variant,,ENST00000336057,,c.2051-1170G>A,MODIFIER,,,,-1;HDAC5,downstream_gene_variant,,ENST00000588261,,,MODIFIER,,,,-1;HDAC5,splice_region_variant,,ENST00000592385,,n.1162G>A,LOW,,,,-1;HDAC5,splice_region_variant,,ENST00000593013,,n.332G>A,LOW,,,,-1;HDAC5,splice_region_variant,,ENST00000588419,,n.316G>A,LOW,,,,-1	T	ENST00000586802	Transcript	missense_variant	missense_variant;splice_region_variant	2393/3662	2182/3369	728/1122	E/K	Gag/Aag		1		-1	HDAC5	HGNC	HGNC:14068	protein_coding		CCDS45696.1	ENSP00000468004	Q9UQL6			NM_005474.4	deleterious(0.01)	possibly_damaging(0.889)	15/27		Pfam_domain:PF00850;Superfamily_domains:SSF52768;PIRSF_domain:PIRSF037911																	MODERATE		SNV	1			1											PASS	TACCTCGCACT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	44085024	44085024	C	T	1	0	0	0	0	1	0	0	0	6897	898	31	2		2	HDAC5	17	44085024	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1530545	44085024	39172417	387	1560											
HDAC5	10014	BI	GRCh38	chr17	44093715	44093715	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagttgctgctcccGcagtgtggggtccacagagc	14	13	0	1	rs746035403	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.214C>T	p.Arg72Trp	p.R72W	ENST00000586802	4/27	13	10	3	16			HDAC5,missense_variant,p.R73W,ENST00000225983,NM_001015053.1,c.217C>T,MODERATE,YES,deleterious_low_confidence(0.03),probably_damaging(0.992),-1;HDAC5,missense_variant,p.R72W,ENST00000336057,,c.214C>T,MODERATE,,deleterious(0),probably_damaging(0.996),-1;HDAC5,missense_variant,p.R72W,ENST00000586802,NM_005474.4,c.214C>T,MODERATE,,deleterious_low_confidence(0.03),probably_damaging(0.995),-1;HDAC5,missense_variant,p.R63W,ENST00000588703,,c.187C>T,MODERATE,,deleterious(0.01),probably_damaging(0.995),-1;HDAC5,upstream_gene_variant,,ENST00000588261,,,MODIFIER,,,,-1;HDAC5,downstream_gene_variant,,ENST00000591714,,,MODIFIER,,,,-1;HDAC5,downstream_gene_variant,,ENST00000587135,,,MODIFIER,,,,-1;HDAC5,upstream_gene_variant,,ENST00000592385,,,MODIFIER,,,,-1;HDAC5,upstream_gene_variant,,ENST00000587776,,,MODIFIER,,,,-1	A	ENST00000586802	Transcript	missense_variant	missense_variant	425/3662	214/3369	72/1122	R/W	Cgg/Tgg	rs746035403	1		-1	HDAC5	HGNC	HGNC:14068	protein_coding		CCDS45696.1	ENSP00000468004	Q9UQL6			NM_005474.4	deleterious_low_confidence(0.03)	probably_damaging(0.995)	4/27		Pfam_domain:PF12203;PIRSF_domain:PIRSF037911																	MODERATE		SNV	1			1	1.651e-05	2.47e-05	0	0	0	0	4.557e-05	0	0		PASS	CTCCCGCAGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4066861	True	Unknown	A	3	1	80	44093715	44093715	G	A	1	0	0	0	0	1	0	0	0	6897	1086	38	2		2	HDAC5	17	44093715	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8691	44093715	39163726	388	1561											
FMNL1	752	BI	GRCh38	chr17	45243247	45243247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacactcattgaggccaacCgggccaagaacttggccatc	10	14	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2140C>T	p.Arg714Trp	p.R714W	ENST00000331495	17/27	49	42	7	90			FMNL1,missense_variant,p.R714W,ENST00000331495,NM_005892.3,c.2140C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;FMNL1,missense_variant,p.R292W,ENST00000587489,,c.874C>T,MODERATE,,deleterious(0),probably_damaging(1),1;FMNL1,missense_variant,p.R369W,ENST00000328118,,c.1105C>T,MODERATE,,deleterious(0),possibly_damaging(0.855),1;FMNL1,missense_variant,p.R44W,ENST00000586643,,c.130C>T,MODERATE,,deleterious(0),probably_damaging(1),1;FMNL1,upstream_gene_variant,,ENST00000589911,,,MODIFIER,,,,1;FMNL1,upstream_gene_variant,,ENST00000586092,,,MODIFIER,,,,1;CTD-2020K17.3,upstream_gene_variant,,ENST00000587534,,,MODIFIER,YES,,,-1;MAP3K14-AS1,upstream_gene_variant,,ENST00000590100,,,MODIFIER,,,,1;MAP3K14-AS1,upstream_gene_variant,,ENST00000592422,,,MODIFIER,,,,1;CTD-2020K17.4,downstream_gene_variant,,ENST00000420431,,,MODIFIER,YES,,,-1;CTD-2020K17.4,downstream_gene_variant,,ENST00000591361,,,MODIFIER,,,,-1;MAP3K14-AS1,upstream_gene_variant,,ENST00000588504,,,MODIFIER,,,,1;MAP3K14-AS1,upstream_gene_variant,,ENST00000585346,,,MODIFIER,,,,1;MAP3K14-AS1,upstream_gene_variant,,ENST00000588698,,,MODIFIER,,,,1;MAP3K14-AS1,upstream_gene_variant,,ENST00000591263,,,MODIFIER,,,,1;CTD-2020K17.4,downstream_gene_variant,,ENST00000589518,,,MODIFIER,,,,-1;CTD-2020K17.3,upstream_gene_variant,,ENST00000393507,,,MODIFIER,,,,-1;FMNL1,downstream_gene_variant,,ENST00000592006,,,MODIFIER,,,,1;FMNL1,non_coding_transcript_exon_variant,,ENST00000587856,,n.2709C>T,MODIFIER,,,,1	T	ENST00000331495	Transcript	missense_variant	missense_variant	2476/4101	2140/3303	714/1100	R/W	Cgg/Tgg		1		1	FMNL1	HGNC	HGNC:1212	protein_coding	YES	CCDS11497.1	ENSP00000329219	O95466		UPI0000246EE9	NM_005892.3	deleterious(0)	probably_damaging(1)	17/27		Pfam_domain:PF02181;SMART_domains:SM00498;Superfamily_domains:SSF101447																	MODERATE	1	SNV	1			1											PASS	CCAACCGGGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	45243247	45243247	C	T	1	0	0	0	0	1	0	0	0	5807	643	23	2		2	FMNL1	17	45243247	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1149532	45243247	38014194	389	1562											
CDC27	996	BI	GRCh38	chr17	47181601	47181601	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaggaaaaccgcatctcGgtaagcatagtggtttagtg	13	7	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.64C>T	p.Arg22Ter	p.R22*	ENST00000066544	2/19	32	24	8	24			CDC27,stop_gained,p.R22*,ENST00000066544,NM_001256.3&NM_001293091.1,c.64C>T,HIGH,,,,-1;CDC27,stop_gained,p.R22*,ENST00000531206,NM_001114091.1,c.64C>T,HIGH,YES,,,-1;CDC27,stop_gained,p.R22*,ENST00000527547,NM_001293089.1,c.64C>T,HIGH,,,,-1;CDC27,stop_gained,p.R22*,ENST00000575483,,c.64C>T,HIGH,,,,-1;CDC27,non_coding_transcript_exon_variant,,ENST00000528748,,n.228C>T,MODIFIER,,,,-1;CDC27,non_coding_transcript_exon_variant,,ENST00000532575,,n.199C>T,MODIFIER,,,,-1;CDC27,stop_gained,p.R22*,ENST00000533415,,c.64C>T,HIGH,,,,-1;CDC27,stop_gained,p.R22*,ENST00000526866,,c.64C>T,HIGH,,,,-1;CDC27,stop_gained,p.R3*,ENST00000573550,,c.5C>T,HIGH,,,,-1;CDC27,stop_gained,p.R22*,ENST00000532893,,c.64C>T,HIGH,,,,-1;CDC27,non_coding_transcript_exon_variant,,ENST00000525495,,n.153C>T,MODIFIER,,,,-1;CDC27,non_coding_transcript_exon_variant,,ENST00000528147,,n.144C>T,MODIFIER,,,,-1	A	ENST00000066544	Transcript	stop_gained	stop_gained	158/5801	64/2475	22/824	R/*	Cga/Tga		1		-1	CDC27	HGNC	HGNC:1728	protein_coding		CCDS11509.1	ENSP00000066544	P30260		UPI000012722D	NM_001256.3;NM_001293091.1			2/19																			HIGH		SNV	1			1											PASS	ATCTCGGTAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	47181601	47181601	G	A	1	0	0	0	0	0	1	0	0	2769	1124	39	2		2	CDC27	17	47181601	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1938354	47181601	36075840	390	1563											
GIP	2695	BI	GRCh38	chr17	48964409	48964409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgatgaaagtcccttccGcgtacctggggcctcgaggt	12	13	0	2	rs367741847	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.158C>T	p.Ala53Val	p.A53V	ENST00000357424	3/6	66	52	14	86			GIP,missense_variant,p.A53V,ENST00000357424,NM_004123.2,c.158C>T,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1	A	ENST00000357424	Transcript	missense_variant	missense_variant	259/716	158/462	53/153	A/V	gCg/gTg	rs367741847	1		-1	GIP	HGNC	HGNC:4270	protein_coding	YES	CCDS11542.1	ENSP00000350005	P09681		UPI000012B4C0	NM_004123.2	deleterious(0)	probably_damaging(0.996)	3/6		Pfam_domain:PF00123;SMART_domains:SM00070								0	1e-04								MODERATE	1	SNV	1			1	4.942e-05	4.942e-05	9.61e-05	8.637e-05	0	0	5.995e-05	0	0		PASS	CTTCCGCGTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	48964409	48964409	G	A	1	0	0	0	0	1	0	0	0	6273	1087	38	2		2	GIP	17	48964409	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1782808	48964409	34293032	391	1564											
B4GALNT2	124872	BI	GRCh38	chr17	49156586	49156586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctccagtttgaaggacccGatgcccccgtctatgaggtg	12	13	1	2	rs776879040	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.661G>A	p.Asp221Asn	p.D221N	ENST00000300404	5/11	75	33	42	101			B4GALNT2,missense_variant,p.D161N,ENST00000393354,NM_001159387.1,c.481G>A,MODERATE,,tolerated(0.26),benign(0.013),1;B4GALNT2,missense_variant,p.D221N,ENST00000300404,NM_153446.2,c.661G>A,MODERATE,YES,tolerated(0.35),benign(0.002),1;B4GALNT2,missense_variant,p.D135N,ENST00000504681,NM_001159388.1,c.403G>A,MODERATE,,tolerated(0.33),benign(0.002),1	A	ENST00000300404	Transcript	missense_variant	missense_variant	720/1906	661/1701	221/566	D/N	Gat/Aat	rs776879040	1		1	B4GALNT2	HGNC	HGNC:24136	protein_coding	YES	CCDS11544.1	ENSP00000300404	Q8NHY0		UPI000013E655	NM_153446.2	tolerated(0.35)	benign(0.002)	5/11		PIRSF_domain:PIRSF000474																	MODERATE	1	SNV	1			1	3.295e-05	3.297e-05	0	0	0	0	0	0	0.0002428		PASS	GACCCGATGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3518880	True	Unknown	A	3	1	80	49156586	49156586	G	A	1	0	0	0	0	1	0	0	0	1423	1058	37	2		2	B4GALNT2	17	49156586	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	192177	49156586	34100855	392	1565											
NGFR	4804	BI	GRCh38	chr17	49512923	49512923	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacagcgccacactggacGccctcctggccgccctgcgc	12	19	0	0	rs534528579	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1198G>A	p.Ala400Thr	p.A400T	ENST00000172229	6/6	16	9	7	19			NGFR,missense_variant,p.A400T,ENST00000172229,NM_002507.3,c.1198G>A,MODERATE,YES,tolerated(0.25),benign(0.025),1;NGFR,missense_variant,p.A306T,ENST00000504201,,c.916G>A,MODERATE,,tolerated(0.29),benign(0.025),1;MIR6165,downstream_gene_variant,,ENST00000614803,,,MODIFIER,YES,,,1;RP5-1029K10.2,intron_variant,,ENST00000514506,,n.247-1810C>T,MODIFIER,YES,,,-1	A	ENST00000172229	Transcript	missense_variant	missense_variant	1323/3417	1198/1284	400/427	A/T	Gcc/Acc	rs534528579	1		1	NGFR	HGNC	HGNC:7809	protein_coding	YES	CCDS11549.1	ENSP00000172229	P08138		UPI0000049854	NM_002507.3	tolerated(0.25)	benign(0.025)	6/6		Low_complexity_(Seg):Seg;Pfam_domain:PF00531;PROSITE_profiles:PS50017;SMART_domains:SM00005;Superfamily_domains:SSF47986	2e-04	0	0.0014		0	0	0										MODERATE	1	SNV	1			1											PASS	TGGACGCCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM265824	True	Unknown	A	3	1	80	49512923	49512923	G	A	1	0	0	0	0	1	0	0	0	10432	1087	38	2		2	NGFR	17	49512923	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	356337	49512923	33744518	393	1566											
MYCBPAP	84073	BI	GRCh38	chr17	50519667	50519667	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaacagtgggttctggagtCgactggaatacttgggagat	15	5	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.925C>T	p.Arg309Ter	p.R309*	ENST00000323776	7/19	36	29	7	65			MYCBPAP,stop_gained,p.R309*,ENST00000323776,NM_032133.4,c.925C>T,HIGH,YES,,,1;MYCBPAP,stop_gained,p.R272*,ENST00000436259,,c.814C>T,HIGH,,,,1;MYCBPAP,downstream_gene_variant,,ENST00000452039,,,MODIFIER,,,,1;MYCBPAP,upstream_gene_variant,,ENST00000488432,,,MODIFIER,,,,1;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000468821,,n.73C>T,MODIFIER,,,,1;MYCBPAP,downstream_gene_variant,,ENST00000576179,,,MODIFIER,,,,1;MYCBPAP,stop_gained,p.R284*,ENST00000437498,,c.849C>T,HIGH,,,,1;MYCBPAP,non_coding_transcript_exon_variant,,ENST00000470609,,n.1046C>T,MODIFIER,,,,1;MYCBPAP,downstream_gene_variant,,ENST00000458692,,,MODIFIER,,,,1;MYCBPAP,upstream_gene_variant,,ENST00000459754,,,MODIFIER,,,,1	T	ENST00000323776	Transcript	stop_gained	stop_gained	1087/3186	925/2955	309/984	R/*	Cga/Tga		1		1	MYCBPAP	HGNC	HGNC:19677	protein_coding	YES	CCDS32680.2	ENSP00000323184	Q8TBZ2			NM_032133.4			7/19																			HIGH	1	SNV	1			1											PASS	GGAGTCGACTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM981071;COSM981072	True	Unknown	T	4	4	80	50519667	50519667	C	T	1	0	0	0	0	0	1	0	0	10019	876	31	2		2	MYCBPAP	17	50519667	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1006744	50519667	32737774	394	1567											
CUEDC1	404093	BI	GRCh38	chr17	57872771	57872771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaggtactgcttccagcGgctctcctggtctccgggcc	11	17	2	0	rs150759994	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.676C>T	p.Arg226Cys	p.R226C	ENST00000360238	5/11	77	68	9	80			CUEDC1,missense_variant,p.R226C,ENST00000577830,NM_001271875.1,c.676C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.696),-1;CUEDC1,missense_variant,p.R226C,ENST00000360238,,c.676C>T,MODERATE,,deleterious(0),possibly_damaging(0.696),-1;CUEDC1,missense_variant,p.R226C,ENST00000407144,,c.676C>T,MODERATE,,deleterious(0),possibly_damaging(0.696),-1;CUEDC1,missense_variant,p.R89C,ENST00000577840,,c.265C>T,MODERATE,,deleterious(0),possibly_damaging(0.696),-1;CUEDC1,downstream_gene_variant,,ENST00000577589,,,MODIFIER,,,,-1;CUEDC1,upstream_gene_variant,,ENST00000581898,,,MODIFIER,,,,-1;CUEDC1,upstream_gene_variant,,ENST00000578357,,,MODIFIER,,,,-1;CUEDC1,upstream_gene_variant,,ENST00000584746,,,MODIFIER,,,,-1;CUEDC1,upstream_gene_variant,,ENST00000581391,,,MODIFIER,,,,-1	A	ENST00000360238	Transcript	missense_variant	missense_variant	1395/2193	676/1161	226/386	R/C	Cgc/Tgc	rs150759994	1		-1	CUEDC1	HGNC	HGNC:31350	protein_coding		CCDS11599.1	ENSP00000353373	Q9NWM3		UPI0000073340		deleterious(0)	possibly_damaging(0.696)	5/11										2e-04	1e-04								MODERATE		SNV	2			1	2.471e-05	2.473e-05	0.0002886	0	0	0	0	0	0		PASS	CCAGCGGCTCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM981700	True	Unknown	A	3	1	80	57872771	57872771	G	A	1	0	0	0	0	1	0	0	0	3862	1116	39	2		2	CUEDC1	17	57872771	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	7353104	57872771	25384670	395	1568											
RNF43	54894	BI	GRCh38	chr17	58357950	58357950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactgtgggttagagagcCgccccgaaggggctgctgag	18	10	0	2	rs759694077	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1826G>A	p.Arg609Gln	p.R609Q	ENST00000407977	9/10	49	26	23	73			RNF43,missense_variant,p.R609Q,ENST00000584437,,c.1826G>A,MODERATE,YES,tolerated_low_confidence(1),benign(0),-1;RNF43,missense_variant,p.R609Q,ENST00000407977,,c.1826G>A,MODERATE,,tolerated_low_confidence(1),benign(0),-1;RNF43,missense_variant,p.R609Q,ENST00000577716,NM_017763.4,c.1826G>A,MODERATE,,tolerated_low_confidence(1),benign(0),-1;RNF43,missense_variant,p.R568Q,ENST00000583753,,c.1703G>A,MODERATE,,tolerated(1),benign(0),-1;RNF43,missense_variant,p.R482Q,ENST00000581868,,c.1445G>A,MODERATE,,tolerated_low_confidence(1),benign(0.001),-1;RNF43,missense_variant,p.R482Q,ENST00000577625,,c.1445G>A,MODERATE,,tolerated(1),benign(0),-1;SUPT4H1,upstream_gene_variant,,ENST00000580947,,,MODIFIER,,,,-1;BZRAP1-AS1,intron_variant,,ENST00000583841,,n.434+20271C>T,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000580022,,,MODIFIER,YES,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000578025,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000579527,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000585236,,,MODIFIER,,,,1;BZRAP1-AS1,downstream_gene_variant,,ENST00000579859,,,MODIFIER,,,,1	T	ENST00000407977	Transcript	missense_variant	missense_variant	2547/5516	1826/2352	609/783	R/Q	cGg/cAg	rs759694077	1		-1	RNF43	HGNC	HGNC:18505	protein_coding		CCDS11607.1	ENSP00000385328	Q68DV7		UPI000022A469		tolerated_low_confidence(1)	benign(0)	9/10		PROSITE_profiles:PS50099																	MODERATE		SNV	1			1	1.649e-05	1.697e-05	0	0	0.0001156	0	0	0	6.782e-05		PASS	AGAGCCGCCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1224019	True	Unknown	T	3	4	80	58357950	58357950	C	T	1	0	0	0	0	1	0	0	0	13675	652	23	2		2	RNF43	17	58357950	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	485179	58357950	24899491	396	1569											
SCN4A	6329	BI	GRCh38	chr17	63941137	63941137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtggtggtgatgggctcGtaggacaccttggaggggtt	20	5	0	1	rs768902509	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5145C>T	p.=	p.Y1715Y	ENST00000435607	24/24	63	36	27	100			SCN4A,synonymous_variant,p.Y1715Y,ENST00000435607,NM_000334.4,c.5145C>T,LOW,YES,,,-1;SCN4A,synonymous_variant,p.Y1715Y,ENST00000578147,,c.5145C>T,LOW,,,,-1	A	ENST00000435607	Transcript	synonymous_variant	synonymous_variant	5222/7805	5145/5511	1715/1836	Y	taC/taT	rs768902509	1		-1	SCN4A	HGNC	HGNC:10591	protein_coding	YES		ENSP00000396320	P35499		UPI0000201254	NM_000334.4			24/24																			LOW	1	SNV	5			1	1.652e-05	1.656e-05	0	0	0	0	2.998e-05	0	0		PASS	GGCTCGTAGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	63941137	63941137	G	A	1	0	0	0	0	0	0	0	1	14189	1140	40	1		1	SCN4A	17	63941137	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5583187	63941137	19316304	397	1570											
KCNJ16	3773	BI	GRCh38	chr17	70132991	70132991	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagaagctcctatgttcccCgagaaattctctggggccat	9	12	1	2	rs142625269	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.904C>T	p.Arg302Ter	p.R302*	ENST00000283936	5/5	71	50	21	95			KCNJ16,stop_gained,p.R302*,ENST00000615244,NM_001270422.1&NM_001291625.1&NM_001291624.1,c.904C>T,HIGH,,,,1;KCNJ16,stop_gained,p.R302*,ENST00000283936,NM_018658.2,c.904C>T,HIGH,,,,1;KCNJ16,stop_gained,p.R337*,ENST00000585558,NM_170742.2&NM_001291623.1,c.1009C>T,HIGH,YES,,,1;KCNJ16,stop_gained,p.R302*,ENST00000392670,,c.904C>T,HIGH,,,,1;KCNJ16,stop_gained,p.R302*,ENST00000392671,NM_170741.2,c.904C>T,HIGH,,,,1;KCNJ16,stop_gained,p.R302*,ENST00000589377,,c.904C>T,HIGH,,,,1;KCNJ16,stop_gained,p.R341*,ENST00000586462,,c.1021C>T,HIGH,,,,1;KCNJ16,downstream_gene_variant,,ENST00000587698,,,MODIFIER,,,,1;KCNJ16,downstream_gene_variant,,ENST00000587892,,,MODIFIER,,,,1;KCNJ16,downstream_gene_variant,,ENST00000591891,,,MODIFIER,,,,1;AC002539.1,upstream_gene_variant,,ENST00000435112,,,MODIFIER,,,,-1	T	ENST00000283936	Transcript	stop_gained	stop_gained	1450/4062	904/1257	302/418	R/*	Cga/Tga	rs142625269	1		1	KCNJ16	HGNC	HGNC:6262	protein_coding		CCDS11687.1	ENSP00000283936	Q9NPI9		UPI000012D8B3	NM_018658.2			5/5		Pfam_domain:PF01007;Prints_domain:PR01320;PIRSF_domain:PIRSF005465;Superfamily_domains:SSF81296								0	1e-04								HIGH		SNV	1			1	2.471e-05	2.478e-05	0	0.0001729	0	0	0	0	6.057e-05		panel_of_normals	TTCCCCGAGAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	4	4	80	70132991	70132991	C	T	1	0	0	0	0	0	1	0	0	7966	644	23	2		2	KCNJ16	17	70132991	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	6191854	70132991	13124450	398	1571											
LLGL2	3993	BI	GRCh38	chr17	75573209	75573209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctcaagccccaggtgCgctacagctgcatccgccgg	11	18	1	0	rs370466207	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2656C>T	p.Arg886Cys	p.R886C	ENST00000392550	20/26	69	56	13	78			LLGL2,missense_variant,p.R886C,ENST00000392550,NM_001031803.1,c.2656C>T,MODERATE,YES,deleterious(0.01),probably_damaging(0.915),1;LLGL2,missense_variant,p.R886C,ENST00000167462,NM_004524.2,c.2656C>T,MODERATE,,deleterious(0.01),probably_damaging(0.961),1;LLGL2,missense_variant,p.R886C,ENST00000577200,,c.2656C>T,MODERATE,,deleterious(0.01),probably_damaging(0.961),1;LLGL2,3_prime_UTR_variant,,ENST00000578638,,c.*1388C>T,MODIFIER,,,,1;LLGL2,non_coding_transcript_exon_variant,,ENST00000545227,,n.2833C>T,MODIFIER,,,,1;LLGL2,non_coding_transcript_exon_variant,,ENST00000577500,,n.2176C>T,MODIFIER,,,,1;LLGL2,non_coding_transcript_exon_variant,,ENST00000579092,,n.722C>T,MODIFIER,,,,1;LLGL2,downstream_gene_variant,,ENST00000578719,,,MODIFIER,,,,1;LLGL2,upstream_gene_variant,,ENST00000582393,,,MODIFIER,,,,1;LLGL2,upstream_gene_variant,,ENST00000577211,,,MODIFIER,,,,1;LLGL2,upstream_gene_variant,,ENST00000578034,,,MODIFIER,,,,1;LLGL2,upstream_gene_variant,,ENST00000583514,,,MODIFIER,,,,1	T	ENST00000392550	Transcript	missense_variant	missense_variant	2773/3509	2656/3063	886/1020	R/C	Cgc/Tgc	rs370466207	1		1	LLGL2	HGNC	HGNC:6629	protein_coding	YES	CCDS32733.1	ENSP00000376333	Q6P1M3		UPI00005905A8	NM_001031803.1	deleterious(0.01)	probably_damaging(0.915)	20/26										0	1e-04								MODERATE	1	SNV	1			1	2.472e-05	2.529e-05	0	8.685e-05	0	0	3.093e-05	0	0		PASS	AGGTGCGCTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	75573209	75573209	C	T	1	0	0	0	0	1	0	0	0	8758	768	27	2		2	LLGL2	17	75573209	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	5440218	75573209	7684232	399	1572											
CDK3	1018	BI	GRCh38	chr17	76003290	76003290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcgaagacacatggccCggggtcacccagctgcctga	12	16	1	2	rs141477491		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.684C>T	p.=	p.P228P	ENST00000425876	6/7	90	80	10	112			CDK3,synonymous_variant,p.P228P,ENST00000425876,,c.684C>T,LOW,YES,,,1;TEN1-CDK3,synonymous_variant,p.P228P,ENST00000448471,NM_001258.2,c.684C>T,LOW,YES,,,1;CDK3,synonymous_variant,p.P188P,ENST00000586261,,c.564C>T,LOW,,,,1;EVPL,downstream_gene_variant,,ENST00000301607,NM_001988.2,,MODIFIER,YES,,,-1;EVPL,downstream_gene_variant,,ENST00000586740,,,MODIFIER,,,,-1;TEN1,downstream_gene_variant,,ENST00000397640,NM_001113324.2,,MODIFIER,YES,,,1;TEN1,downstream_gene_variant,,ENST00000588202,,,MODIFIER,,,,1;EVPL,downstream_gene_variant,,ENST00000589231,,,MODIFIER,,,,-1;CDK3,downstream_gene_variant,,ENST00000588812,,,MODIFIER,,,,1;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000569284,,n.2477C>T,MODIFIER,,,,1;TEN1-CDK3,non_coding_transcript_exon_variant,,ENST00000567351,,n.3088C>T,MODIFIER,,,,1;EVPL,downstream_gene_variant,,ENST00000587569,,,MODIFIER,,,,-1	T	ENST00000425876	Transcript	synonymous_variant	synonymous_variant	772/1582	684/918	228/305	P	ccC/ccT	rs141477491	1		1	CDK3	HGNC	HGNC:1772	protein_coding	YES	CCDS11736.1	ENSP00000410561	Q00526		UPI0000113587				6/7		Pfam_domain:PF00069;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112								0	1e-04								LOW	1	SNV	1			1											panel_of_normals	TGGCCCGGGGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	76003290	76003290	C	T	1	0	0	0	0	0	0	0	1	2844	639	23	2		2	CDK3	17	76003290	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	430081	76003290	7254151	400	1573											
BIRC5	332	BI	GRCh38	chr17	78215971	78215971	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttaatccttacagtgggcCgggcacggtggcttacgcct	12	13	0	0	rs115296168	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.222-693C>T			ENST00000350051		51	31	20	54			BIRC5,missense_variant,p.P76L,ENST00000301633,NM_001012271.1,c.227C>T,MODERATE,YES,tolerated_low_confidence(0.1),benign(0.002),1;BIRC5,missense_variant,p.P54L,ENST00000587746,,c.159C>T,MODERATE,,tolerated_low_confidence(0.06),benign(0.003),1;BIRC5,intron_variant,,ENST00000350051,NM_001168.2,c.222-693C>T,MODIFIER,,,,1;BIRC5,intron_variant,,ENST00000374948,NM_001012270.1,c.221+1182C>T,MODIFIER,,,,1;BIRC5,intron_variant,,ENST00000592734,,c.221+1182C>T,MODIFIER,,,,1;BIRC5,downstream_gene_variant,,ENST00000590449,,,MODIFIER,,,,1;BIRC5,upstream_gene_variant,,ENST00000589892,,,MODIFIER,,,,1;BIRC5,missense_variant,p.P54L,ENST00000586192,,c.159C>T,MODERATE,,deleterious(0.04),benign(0.019),1;BIRC5,3_prime_UTR_variant,,ENST00000591800,,c.*6C>T,MODIFIER,,,,1;BIRC5,non_coding_transcript_exon_variant,,ENST00000592115,,n.179C>T,MODIFIER,,,,1;BIRC5,intron_variant,,ENST00000590925,,c.222-693C>T,MODIFIER,,,,1;RP11-219G17.6,upstream_gene_variant,,ENST00000588528,,,MODIFIER,YES,,,-1	T	ENST00000350051	Transcript	intron_variant	intron_variant	-/2630	-/429	-/142			rs115296168	1		1	BIRC5	HGNC	HGNC:593	protein_coding		CCDS11755.1	ENSP00000324180		A0A0B4J1S3	UPI000013E736	NM_001168.2				2/3		2e-04	8e-04	0		0	0	0	0.0025	0								MODIFIER		SNV	1			1	0.0002314	0.0002485	0.002349	0	0	0	4.771e-05	0	0.0001126		PASS	TGGGCCGGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	1	4	80	78215971	78215971	C	T	0	1	0	0	0	0	0	0	0	1588	666	23	2		2	BIRC5	17	78215971	Intron	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2212681	78215971	5041470	401	1574											
DNAH17	8632	BI	GRCh38	chr17	78425488	78425488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatggactgcatgatggcCgtgaggaacgactgggggtt	17	8	0	2	rs572367991	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.12999G>A	p.=	p.T4333T	ENST00000389840	80/81	43	28	15	58			DNAH17,synonymous_variant,p.T4333T,ENST00000389840,NM_173628.3,c.12999G>A,LOW,YES,,,-1;DNAH17,synonymous_variant,p.T4328T,ENST00000585328,,c.12984G>A,LOW,,,,-1;PGS1,downstream_gene_variant,,ENST00000262764,NM_024419.3,,MODIFIER,YES,,,1;DNAH17,non_coding_transcript_exon_variant,,ENST00000586052,,n.6160G>A,MODIFIER,,,,-1;PGS1,downstream_gene_variant,,ENST00000588281,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000586880,,,MODIFIER,,,,1;DNAH17,downstream_gene_variant,,ENST00000586850,,,MODIFIER,,,,-1;DNAH17,downstream_gene_variant,,ENST00000592192,,,MODIFIER,,,,-1;DNAH17,missense_variant,p.R1541Q,ENST00000591369,,c.4621G>A,MODERATE,,deleterious_low_confidence(0),benign(0.412),-1;DNAH17,non_coding_transcript_exon_variant,,ENST00000590227,,n.2673G>A,MODIFIER,,,,-1;PGS1,downstream_gene_variant,,ENST00000591996,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000589426,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000589425,,,MODIFIER,,,,1;PGS1,downstream_gene_variant,,ENST00000588169,,,MODIFIER,,,,1;DNAH17,downstream_gene_variant,,ENST00000591647,,,MODIFIER,,,,-1	T	ENST00000389840	Transcript	synonymous_variant	synonymous_variant	13124/13723	12999/13389	4333/4462	T	acG/acA	rs572367991	1		-1	DNAH17	HGNC	HGNC:2946	protein_coding	YES		ENSP00000374490	Q9UFH2		UPI0001B25601	NM_173628.3			80/81		Pfam_domain:PF03028	2e-04	0	0		0.001	0	0										LOW		SNV	5			1	9.06e-05	9.09e-05	0	0	0.001274	0	0	0	0		panel_of_normals	ATGGCCGTGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	78425488	78425488	C	T	1	0	0	0	0	0	0	0	1	4416	639	23	2		2	DNAH17	17	78425488	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	209517	78425488	4831953	402	1575											
CBX2	84733	BI	GRCh38	chr17	79784065	79784065	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctccactcagcgcccccGttgcaggcctggcagctctg	10	20	2	0	rs61738483	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.622G>A	p.Val208Ile	p.V208I	ENST00000310942	5/5	29	22	7	34			CBX2,missense_variant,p.V208I,ENST00000310942,NM_005189.2,c.622G>A,MODERATE,YES,tolerated(0.31),benign(0.074),1;CBX2,downstream_gene_variant,,ENST00000269399,NM_032647.3,,MODIFIER,,,,1;CBX2,downstream_gene_variant,,ENST00000571484,,,MODIFIER,,,,1	A	ENST00000310942	Transcript	missense_variant	missense_variant	726/4644	622/1599	208/532	V/I	Gtt/Att	rs61738483	1		1	CBX2	HGNC	HGNC:1552	protein_coding	YES	CCDS32757.1	ENSP00000308750	Q14781		UPI000004C4E1	NM_005189.2	tolerated(0.31)	benign(0.074)	5/5		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	2			1	3.304e-05	3.498e-05	0	8.823e-05	0.000119	0	3.214e-05	0	0		PASS	CCCCCGTTGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	79784065	79784065	G	A	1	0	0	0	0	1	0	0	0	2418	1145	40	1		1	CBX2	17	79784065	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1358577	79784065	3473376	403	1576											
CEP131	22994	BI	GRCh38	chr17	81219965	81219965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggcactgccaggacgcCgggacacaggcggagggaga	19	11	0	1	rs372370793	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.92G>A	p.Arg31Gln	p.R31Q	ENST00000269392	2/26	70	37	33	103			CEP131,missense_variant,p.R31Q,ENST00000269392,,c.92G>A,MODERATE,,tolerated(0.22),benign(0.064),-1;CEP131,missense_variant,p.R31Q,ENST00000450824,NM_014984.2,c.92G>A,MODERATE,YES,tolerated(0.21),benign(0.036),-1;CEP131,missense_variant,p.R31Q,ENST00000374782,NM_001009811.2,c.92G>A,MODERATE,,tolerated(0.22),benign(0.064),-1;CEP131,missense_variant,p.R31Q,ENST00000575907,,c.92G>A,MODERATE,,tolerated(0.22),benign(0.064),-1	T	ENST00000269392	Transcript	missense_variant	missense_variant	340/3673	92/3252	31/1083	R/Q	cGg/cAg	rs372370793	1		-1	CEP131	HGNC	HGNC:29511	protein_coding			ENSP00000269392	Q9UPN4		UPI00001C1FC8		tolerated(0.22)	benign(0.064)	2/26										2e-04	0								MODERATE		SNV	1			1	1.647e-05	1.657e-05	0	0	0	0	1.51e-05	0	6.092e-05		PASS	GACGCCGGGAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	81219965	81219965	C	T	1	0	0	0	0	1	0	0	0	2959	652	23	2		2	CEP131	17	81219965	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1435900	81219965	2037476	404	1577											
OXLD1	339229	BI	GRCh38	chr17	81665484	81665484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgtcccgaattttctgCgcccatcaggggcttgcgct	12	13	3	0	rs752069209	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.161G>A	p.Arg54His	p.R54H	ENST00000374741	2/2	41	37	4	66			OXLD1,missense_variant,p.R54H,ENST00000374741,NM_001039842.1,c.161G>A,MODERATE,YES,tolerated(0.35),benign(0.001),-1;OXLD1,3_prime_UTR_variant,,ENST00000571503,,c.*123G>A,MODIFIER,,,,-1;CCDC137,upstream_gene_variant,,ENST00000329214,NM_199287.2,,MODIFIER,YES,,,1;CCDC137,upstream_gene_variant,,ENST00000574107,,,MODIFIER,,,,1;PDE6G,upstream_gene_variant,,ENST00000571224,,,MODIFIER,,,,-1;OXLD1,non_coding_transcript_exon_variant,,ENST00000573786,,n.250G>A,MODIFIER,,,,-1;PDE6G,upstream_gene_variant,,ENST00000574777,,,MODIFIER,,,,-1;OXLD1,3_prime_UTR_variant,,ENST00000571757,,c.*245G>A,MODIFIER,,,,-1;OXLD1,3_prime_UTR_variant,,ENST00000575992,,c.*254G>A,MODIFIER,,,,-1;OXLD1,3_prime_UTR_variant,,ENST00000571092,,c.*250G>A,MODIFIER,,,,-1;OXLD1,non_coding_transcript_exon_variant,,ENST00000575963,,n.1152G>A,MODIFIER,,,,-1;CCDC137,upstream_gene_variant,,ENST00000575223,,,MODIFIER,,,,1;CCDC137,upstream_gene_variant,,ENST00000571916,,,MODIFIER,,,,1;CCDC137,upstream_gene_variant,,ENST00000574200,,,MODIFIER,,,,1	T	ENST00000374741	Transcript	missense_variant	missense_variant	172/620	161/444	54/147	R/H	cGc/cAc	rs752069209	1		-1	OXLD1	HGNC	HGNC:27901	protein_coding	YES	CCDS32766.1	ENSP00000363873	Q5BKU9		UPI000022A58F	NM_001039842.1	tolerated(0.35)	benign(0.001)	2/2																			MODERATE	1	SNV	1			1	1.648e-05	1.695e-05	0	0	0	0	3.109e-05	0	0		PASS	TTCTGCGCCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	81665484	81665484	C	T	1	0	0	0	0	1	0	0	0	11405	768	27	2		2	OXLD1	17	81665484	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	445519	81665484	1591957	405	1578											
NOTUM	147111	BI	GRCh38	chr17	81956919	81956919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctccgtgggcgcgcacGtgatcgtgtcgacgcagtct	15	13	1	1	rs138384810	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.851C>T	p.Thr284Met	p.T284M	ENST00000409678	7/11	32	27	5	40			NOTUM,missense_variant,p.T284M,ENST00000409678,NM_178493.5,c.851C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.709),-1;NOTUM,missense_variant,p.T284M,ENST00000425009,,c.851C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.709),-1;NOTUM,missense_variant,p.T142M,ENST00000477214,,c.425C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.709),-1;NOTUM,downstream_gene_variant,,ENST00000489218,,,MODIFIER,,,,-1	A	ENST00000409678	Transcript	missense_variant	missense_variant	1235/2329	851/1491	284/496	T/M	aCg/aTg	rs138384810	1		-1	NOTUM	HGNC	HGNC:27106	protein_coding	YES	CCDS32771.2	ENSP00000387310	Q6P988		UPI000004EE80	NM_178493.5	deleterious(0)	possibly_damaging(0.709)	7/11		Pfam_domain:PF03283	4e-04	0.0015	0		0	0	0	0	2e-04								MODERATE	1	SNV	1			1	0.0001565	0.0001616	0.0002017	0.0002652	0	0	0.0002012	0	6.118e-05		panel_of_normals	CGCACGTGATC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	81956919	81956919	G	A	1	0	0	0	0	1	0	0	0	10598	1145	40	1		1	NOTUM	17	81956919	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	291435	81956919	1300522	406	1579											
RAC3	5881	BI	GRCh38	chr17	82032779	82032779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggggctgtgggacacagCgggtcaggaggactacgatc	17	9	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.176C>T	p.Ala59Val	p.A59V	ENST00000306897	3/6	70	56	14	90			RAC3,missense_variant,p.A59V,ENST00000306897,NM_005052.2,c.176C>T,MODERATE,YES,deleterious_low_confidence(0.02),possibly_damaging(0.836),1;RAC3,missense_variant,p.A15V,ENST00000580965,,c.44C>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.836),1;RAC3,missense_variant,p.A15V,ENST00000584341,,c.44C>T,MODERATE,,deleterious_low_confidence(0.02),possibly_damaging(0.836),1;LRRC45,downstream_gene_variant,,ENST00000306688,NM_144999.2,,MODIFIER,YES,,,1;DCXR,downstream_gene_variant,,ENST00000306869,NM_016286.3&NM_001195218.1,,MODIFIER,YES,,,-1;DCXR,downstream_gene_variant,,ENST00000581584,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000582900,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000577532,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000579155,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000577712,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000579004,,,MODIFIER,,,,-1;RP11-1182P23.5,downstream_gene_variant,,ENST00000623540,,,MODIFIER,YES,,,-1;DCXR,downstream_gene_variant,,ENST00000584318,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000577996,,,MODIFIER,,,,-1;LRRC45,downstream_gene_variant,,ENST00000583302,,,MODIFIER,,,,1;DCXR,downstream_gene_variant,,ENST00000579334,,,MODIFIER,,,,-1;LRRC45,downstream_gene_variant,,ENST00000581227,,,MODIFIER,,,,1;DCXR,downstream_gene_variant,,ENST00000580750,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000578885,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000585085,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000580320,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000578273,,,MODIFIER,,,,-1;RAC3,upstream_gene_variant,,ENST00000585014,,,MODIFIER,,,,1;DCXR,downstream_gene_variant,,ENST00000579842,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000582074,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000582613,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000577286,,,MODIFIER,,,,-1;LRRC45,downstream_gene_variant,,ENST00000582083,,,MODIFIER,,,,1;DCXR,downstream_gene_variant,,ENST00000585164,,,MODIFIER,,,,-1;DCXR,downstream_gene_variant,,ENST00000579821,,,MODIFIER,,,,-1	T	ENST00000306897	Transcript	missense_variant	missense_variant	314/1090	176/579	59/192	A/V	gCg/gTg		1		1	RAC3	HGNC	HGNC:9803	protein_coding	YES	CCDS11798.1	ENSP00000304283	P60763		UPI00000041DA	NM_005052.2	deleterious_low_confidence(0.02)	possibly_damaging(0.836)	3/6		Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;Prints_domain:PR00449;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	CACAGCGGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	82032779	82032779	C	T	1	0	0	0	0	1	0	0	0	13135	768	27	2		2	RAC3	17	82032779	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	75860	82032779	1224662	407	1580											
LRRC30	339291	BI	GRCh38	chr18	7231427	7231427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaactgacccggatcGtggtcctgaacttgtgcggg	16	9	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.289G>A	p.Val97Met	p.V97M	ENST00000383467	1/1	37	29	8	45			LRRC30,missense_variant,p.V97M,ENST00000383467,NM_001105581.1,c.289G>A,MODERATE,YES,deleterious(0.01),probably_damaging(0.915),1	A	ENST00000383467	Transcript	missense_variant	missense_variant	303/923	289/906	97/301	V/M	Gtg/Atg		1		1	LRRC30	HGNC	HGNC:30219	protein_coding	YES	CCDS42409.1	ENSP00000372959	A6NM36		UPI00001D7ABB	NM_001105581.1	deleterious(0.01)	probably_damaging(0.915)	1/1		SMART_domains:SM00369;Superfamily_domains:SSF52058																	MODERATE	1	SNV				1											PASS	GGATCGTGGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	7231427	7231427	G	A	1	0	0	0	0	1	0	0	0	8880	1145	40	1		1	LRRC30	18	7231427	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		7231427	73141858	408	1581											
LAMA3	3909	BI	GRCh38	chr18	23904054	23904054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaaaagcacgcgcGgtccttacaagagctggcaa	14	10	0	2	rs201023601	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.6440G>A	p.Arg2147Gln	p.R2147Q	ENST00000313654	50/75	99	91	8	114			LAMA3,missense_variant,p.R2147Q,ENST00000313654,NM_198129.1,c.6440G>A,MODERATE,YES,tolerated(1),benign(0.001),1;LAMA3,missense_variant,p.R2091Q,ENST00000399516,NM_001127717.1,c.6272G>A,MODERATE,,tolerated(1),benign(0.001),1;LAMA3,missense_variant,p.R538Q,ENST00000269217,NM_000227.3,c.1613G>A,MODERATE,,tolerated(1),benign(0.001),1;LAMA3,missense_variant,p.R482Q,ENST00000587184,NM_001127718.1,c.1445G>A,MODERATE,,tolerated(1),benign(0.001),1;LAMA3,missense_variant,p.R407Q,ENST00000586751,,c.1218G>A,MODERATE,,tolerated(1),benign(0.001),1;LAMA3,non_coding_transcript_exon_variant,,ENST00000588770,,n.1018G>A,MODIFIER,,,,1;LAMA3,downstream_gene_variant,,ENST00000586709,,,MODIFIER,,,,1	A	ENST00000313654	Transcript	missense_variant	missense_variant	6681/10661	6440/10002	2147/3333	R/Q	cGg/cAg	rs201023601	1		1	LAMA3	HGNC	HGNC:6483	protein_coding	YES	CCDS42419.1	ENSP00000324532	Q16787			NM_198129.1	tolerated(1)	benign(0.001)	50/75		Coiled-coils_(Ncoils):ncoils																	MODERATE	1	SNV	1			1	0.0001235	0.0001237	0	0	0	0	0	0	0.0009084		PASS	CGCGCGGTCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	3	1	80	23904054	23904054	G	A	1	0	0	0	0	1	0	0	0	8511	1116	39	2		2	LAMA3	18	23904054	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	16672627	23904054	56469231	409	1582											
DTNA	1837	BI	GRCh38	chr18	34815961	34815961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttatgtcagatcctccccCgcagtgtctggtctggttgc	11	13	3	1	rs749022423		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.656C>T	p.Pro219Leu	p.P219L	ENST00000399113	6/21	237	140	97	196			DTNA,missense_variant,p.P219L,ENST00000283365,NM_032975.3,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,missense_variant,p.P219L,ENST00000399121,NM_001198939.1,c.656C>T,MODERATE,,deleterious(0),probably_damaging(1),1;DTNA,missense_variant,p.P219L,ENST00000444659,NM_001390.4,c.656C>T,MODERATE,,deleterious(0),probably_damaging(1),1;DTNA,missense_variant,p.P219L,ENST00000595022,NM_001198940.1,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.986),1;DTNA,missense_variant,p.P219L,ENST00000348997,NM_001391.5&NM_032978.6,c.656C>T,MODERATE,,deleterious(0),probably_damaging(1),1;DTNA,missense_variant,p.P219L,ENST00000598334,NM_001198938.1,c.656C>T,MODERATE,YES,deleterious(0),probably_damaging(0.977),1;DTNA,missense_variant,p.P219L,ENST00000598142,,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,missense_variant,p.P219L,ENST00000598774,NM_032979.4,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,missense_variant,p.P219L,ENST00000399113,,c.656C>T,MODERATE,,deleterious(0),probably_damaging(1),1;DTNA,missense_variant,p.P219L,ENST00000597599,NM_001198941.1,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,missense_variant,p.P219L,ENST00000315456,NM_001392.4,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,missense_variant,p.P219L,ENST00000554864,NM_001128175.1,c.656C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;DTNA,intron_variant,,ENST00000596745,NM_001198945.1,c.603+3848C>T,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000269192,NM_001198942.1,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000601125,NM_001198943.1,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000591182,NM_032980.3,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000597674,NM_032981.4,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000556414,NM_001198944.1,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000599844,,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000590727,,,MODIFIER,,,,1;AC068506.1,downstream_gene_variant,,ENST00000408482,,,MODIFIER,YES,,,-1;DTNA,non_coding_transcript_exon_variant,,ENST00000592114,,n.355C>T,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000601632,,,MODIFIER,,,,1;DTNA,upstream_gene_variant,,ENST00000601895,,,MODIFIER,,,,1;DTNA,downstream_gene_variant,,ENST00000585446,,,MODIFIER,,,,1	T	ENST00000399113	Transcript	missense_variant	missense_variant	656/2232	656/2232	219/743	P/L	cCg/cTg	rs749022423	1		1	DTNA	HGNC	HGNC:3057	protein_coding			ENSP00000382064	Q9Y4J8				deleterious(0)	probably_damaging(1)	6/21		Pfam_domain:PF09069;Superfamily_domains:SSF47473;PIRSF_domain:PIRSF038204																	MODERATE		SNV	5			1	8.236e-06	8.238e-06	0	0	0	0	1.498e-05	0	0		panel_of_normals	TCCCCCGCAGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	34815961	34815961	C	T	1	0	0	0	0	1	0	0	0	4611	652	23	2		2	DTNA	18	34815961	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10911907	34815961	45557324	410	1583											
ZCCHC2	54877	BI	GRCh38	chr18	62575069	62575069	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgtggggaacacgaaCgctaatgggacagtagtgcc	15	8	0	0	rs780469141		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2988C>T	p.=	p.N996N	ENST00000269499	13/14	19	15	4	25			ZCCHC2,synonymous_variant,p.N996N,ENST00000269499,NM_017742.4,c.2988C>T,LOW,YES,,,1;ZCCHC2,synonymous_variant,p.N675N,ENST00000586834,,c.2025C>T,LOW,,,,1;ZCCHC2,intron_variant,,ENST00000587612,,n.167-244C>T,MODIFIER,,,,1;ZCCHC2,synonymous_variant,p.N916N,ENST00000585873,,c.2746C>T,LOW,,,,1;ZCCHC2,non_coding_transcript_exon_variant,,ENST00000585949,,n.1730C>T,MODIFIER,,,,1;ZCCHC2,upstream_gene_variant,,ENST00000591145,,,MODIFIER,,,,1	T	ENST00000269499	Transcript	synonymous_variant	synonymous_variant	3406/5959	2988/3537	996/1178	N	aaC/aaT	rs780469141	1		1	ZCCHC2	HGNC	HGNC:22916	protein_coding	YES	CCDS45880.1	ENSP00000269499	Q9C0B9		UPI00016D385A	NM_017742.4			13/14																			LOW	1	SNV	5			1	8.251e-06	8.299e-06	0	0	0	0	1.502e-05	0	0		PASS	ACGAACGCTAA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	62575069	62575069	C	T	1	0	0	0	0	0	0	0	1	18162	535	19	1		1	ZCCHC2	18	62575069	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	27759108	62575069	17798216	411	1584											
CDH7	1005	BI	GRCh38	chr18	65843882	65843882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataaagatgccgaccctcGctttctgagcttgggtccgt	10	11	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1052G>A	p.Arg351His	p.R351H	ENST00000323011	7/12	82	61	21	80			CDH7,missense_variant,p.R351H,ENST00000397968,NM_004361.2,c.1052G>A,MODERATE,YES,tolerated(0.06),benign(0.058),1;CDH7,missense_variant,p.R351H,ENST00000536984,,c.1052G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.887),1;CDH7,missense_variant,p.R351H,ENST00000323011,NM_033646.1,c.1052G>A,MODERATE,,tolerated(0.06),benign(0.058),1	A	ENST00000323011	Transcript	missense_variant	missense_variant	1377/2728	1052/2358	351/785	R/H	cGc/cAc		1		1	CDH7	HGNC	HGNC:1766	protein_coding		CCDS11993.1	ENSP00000319166	Q9ULB5		UPI000013D269	NM_033646.1	tolerated(0.06)	benign(0.058)	7/12		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE		SNV	1			1											PASS	CCCTCGCTTTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	65843882	65843882	G	A	1	0	0	0	0	1	0	0	0	2818	1087	38	2		2	CDH7	18	65843882	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3268813	65843882	14529403	412	1585											
SALL3	27164	BI	GRCh38	chr18	78994682	78994682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcagccccgccctgtcCgagtcctcgtcctcgcaggc	13	19	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2691C>T	p.=	p.S897S	ENST00000537592	2/3	26	10	16	29			SALL3,synonymous_variant,p.S897S,ENST00000537592,NM_171999.3,c.2691C>T,LOW,YES,,,1;SALL3,synonymous_variant,p.S764S,ENST00000536229,,c.2292C>T,LOW,,,,1;SALL3,synonymous_variant,p.S897S,ENST00000575389,,c.2691C>T,LOW,,,,1;SALL3,synonymous_variant,p.S629S,ENST00000616649,,c.1887C>T,LOW,,,,1;SALL3,upstream_gene_variant,,ENST00000573324,,,MODIFIER,,,,1;SALL3,downstream_gene_variant,,ENST00000572928,,,MODIFIER,,,,1	T	ENST00000537592	Transcript	synonymous_variant	synonymous_variant	2691/6555	2691/3903	897/1300	S	tcC/tcT		1		1	SALL3	HGNC	HGNC:10527	protein_coding	YES	CCDS12013.1	ENSP00000441823	Q9BXA9		UPI000013E5A7	NM_171999.3			2/3		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50324																	LOW	1	SNV	5			1											PASS	CTGTCCGAGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3668145	True	Unknown	T	2	4	80	78994682	78994682	C	T	1	0	0	0	0	0	0	0	1	14071	639	23	2		2	SALL3	18	78994682	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	13150800	78994682	1378603	413	1586											
ABCA7	10347	BI	GRCh38	chr19	1054605	1054605	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctttgtgggcctggccctCgtgttcagcctcatcgtgcc	11	15	3	0	rs769070739		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3762C>T	p.=	p.L1254L	ENST00000263094	28/47	25	22	3	44			ABCA7,synonymous_variant,p.L1254L,ENST00000263094,NM_019112.3,c.3762C>T,LOW,YES,,,1;ABCA7,synonymous_variant,p.L1254L,ENST00000433129,,c.3762C>T,LOW,,,,1;ABCA7,synonymous_variant,p.L1116L,ENST00000435683,,c.3348C>T,LOW,,,,1;ABCA7,upstream_gene_variant,,ENST00000525073,,,MODIFIER,,,,1;ABCA7,intron_variant,,ENST00000530092,,c.185-175C>T,MODIFIER,,,,1;ABCA7,upstream_gene_variant,,ENST00000532194,,,MODIFIER,,,,1;ABCA7,upstream_gene_variant,,ENST00000529442,,,MODIFIER,,,,1	T	ENST00000263094	Transcript	synonymous_variant	synonymous_variant	3993/6816	3762/6441	1254/2146	L	ctC/ctT	rs769070739	1		1	ABCA7	HGNC	HGNC:37	protein_coding	YES	CCDS12055.1	ENSP00000263094	Q8IZY2		UPI000013D3A4	NM_019112.3			28/47		Transmembrane_helices:Tmhmm																	LOW	1	SNV	5			1	8.237e-06	8.328e-06	0	0	0	0	1.521e-05	0	0		PASS	GCCCTCGTGTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3528214	True	Unknown	T	2	4	80	1054605	1054605	C	T	1	0	0	0	0	0	0	0	1	41	871	31	2		2	ABCA7	19	1054605	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		1054605	57563011	414	1587											
AP3D1	8943	BI	GRCh38	chr19	2118738	2118738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgtagagcttgaccaCgttctgcacatacacggcct	12	12	1	2	rs369318068	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1576G>A	p.Val526Met	p.V526M	ENST00000345016	15/30	39	32	7	27			AP3D1,missense_variant,p.V526M,ENST00000355272,NM_001261826.1,c.1576G>A,MODERATE,YES,tolerated(0.15),benign(0.091),-1;AP3D1,missense_variant,p.V526M,ENST00000345016,NM_003938.6,c.1576G>A,MODERATE,,tolerated(0.12),benign(0.147),-1;AP3D1,non_coding_transcript_exon_variant,,ENST00000591631,,n.101G>A,MODIFIER,,,,-1;AP3D1,downstream_gene_variant,,ENST00000590683,,,MODIFIER,,,,-1;AP3D1,upstream_gene_variant,,ENST00000592488,,,MODIFIER,,,,-1;AP3D1,upstream_gene_variant,,ENST00000586177,,,MODIFIER,,,,-1	T	ENST00000345016	Transcript	missense_variant	missense_variant	1799/4870	1576/3462	526/1153	V/M	Gtg/Atg	rs369318068	1		-1	AP3D1	HGNC	HGNC:568	protein_coding		CCDS42459.1	ENSP00000344055	O14617		UPI0000125031	NM_003938.6	tolerated(0.12)	benign(0.147)	15/30		Pfam_domain:PF01602;Superfamily_domains:SSF48371;PIRSF_domain:PIRSF037092	8e-04	8e-04	0.0029		0	0.001	0	0	2e-04								MODERATE		SNV	1			1	7.419e-05	7.58e-05	0.0003108	0.0002614	0.0001164	0	3.048e-05	0	0		PASS	GACCACGTTCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM6021753;COSM6021754;COSM6021755	True	Unknown	T	3	4	80	2118738	2118738	C	T	1	0	0	0	0	1	0	0	0	862	536	19	1		1	AP3D1	19	2118738	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1064133	2118738	56498878	415	1588											
SF3A2	8175	BI	GRCh38	chr19	2243427	2243427	+	Frame_Shift_Del	DEL	C	C	-													aaggccatcaccatggacttCcagcatcgccccgggggcaa					novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.10delC	p.Gln4SerfsTer44	p.Q4Sfs*44	ENST00000221494	2/9	23	14	9	33			SF3A2,frameshift_variant,p.Q4Sfs*44,ENST00000221494,NM_007165.4,c.10delC,HIGH,YES,,,1;SF3A2,frameshift_variant,p.Q4Sfs*44,ENST00000586396,,c.10delC,HIGH,,,,1;SF3A2,non_coding_transcript_exon_variant,,ENST00000592314,,n.89delC,MODIFIER,,,,1;SF3A2,non_coding_transcript_exon_variant,,ENST00000589118,,n.117delC,MODIFIER,,,,1;SF3A2,non_coding_transcript_exon_variant,,ENST00000592839,,n.96delC,MODIFIER,,,,1;SF3A2,non_coding_transcript_exon_variant,,ENST00000590034,,n.47delC,MODIFIER,,,,1;SF3A2,upstream_gene_variant,,ENST00000587637,,,MODIFIER,,,,1	-	ENST00000221494	Transcript	frameshift_variant	frameshift_variant	444/1963	9/1395	3/464	F/X	ttC/tt		1		1	SF3A2	HGNC	HGNC:10766	protein_coding	YES	CCDS12084.1	ENSP00000221494	Q15428		UPI0000135468	NM_007165.4			2/9																			HIGH	1	deletion	1	1		1											PASS	GGACTTCCAGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	-	7	5	80	2243427	2243427	C	-	1	0	1	0	1	0	0	0	0	14426	854	30	0		0	SF3A2	19	2243427	Frame_Shift_Del	DEL	C	TCGA-YZ-A985-01A-11D-A39W-08	124689	2243427	56374189	416	1589											
AES	166	BI	GRCh38	chr19	3061249	3061249	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagttgctggggtaggtgCgaggagccctgtagggatgg	20	5	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.36G>A	p.=	p.S12S	ENST00000327141	2/7	76	65	11	134			AES,synonymous_variant,p.S79S,ENST00000221561,NM_198969.1,c.237G>A,LOW,YES,,,-1;AES,synonymous_variant,p.S65S,ENST00000586742,,c.193G>A,LOW,,,,-1;AES,synonymous_variant,p.S12S,ENST00000327141,NM_001130.5&NM_198970.1,c.36G>A,LOW,,,,-1;AES,5_prime_UTR_variant,,ENST00000586839,,c.-133G>A,MODIFIER,,,,-1;AES,non_coding_transcript_exon_variant,,ENST00000592330,,n.26G>A,MODIFIER,,,,-1;AES,synonymous_variant,p.S12S,ENST00000585557,,c.36G>A,LOW,,,,-1;AES,non_coding_transcript_exon_variant,,ENST00000585782,,n.113G>A,MODIFIER,,,,-1;AES,non_coding_transcript_exon_variant,,ENST00000586003,,n.70G>A,MODIFIER,,,,-1;AES,upstream_gene_variant,,ENST00000592414,,,MODIFIER,,,,-1;AES,upstream_gene_variant,,ENST00000587393,,,MODIFIER,,,,-1;AES,upstream_gene_variant,,ENST00000587083,,,MODIFIER,,,,-1	T	ENST00000327141	Transcript	synonymous_variant	synonymous_variant	393/1608	36/594	12/197	S	tcG/tcA		1		-1	AES	HGNC	HGNC:307	protein_coding		CCDS12102.1	ENSP00000317537	Q08117		UPI0000043C26	NM_001130.5;NM_198970.1			2/7		Pfam_domain:PF03920																	LOW		SNV	1			1											PASS	AGGTGCGAGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	3061249	3061249	C	T	1	0	0	0	0	0	0	0	1	427	755	27	2		2	AES	19	3061249	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	817822	3061249	55556367	417	1590											
GNA11	2767	BI	GRCh38	chr19	3115014	3115014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggacgtgctgcgggtcCgcgtgcccaccaccggcatc	14	16	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.547C>T	p.Arg183Cys	p.R183C	ENST00000078429	4/7	92	51	41	136			GNA11,missense_variant,p.R183C,ENST00000078429,NM_002067.4,c.547C>T,MODERATE,YES,deleterious(0),probably_damaging(1),1;GNA11,missense_variant,p.R32C,ENST00000587636,,c.93C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),1;GNA11,missense_variant,p.R24C,ENST00000588401,,c.68C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.942),1;AC005262.3,downstream_gene_variant,,ENST00000587701,,,MODIFIER,YES,,,-1;GNA11,upstream_gene_variant,,ENST00000586180,,,MODIFIER,,,,1;GNA11,downstream_gene_variant,,ENST00000586763,,,MODIFIER,,,,1;GNA11,upstream_gene_variant,,ENST00000590534,,,MODIFIER,,,,1;GNA11,upstream_gene_variant,,ENST00000591301,,,MODIFIER,,,,1	T	ENST00000078429	Transcript	missense_variant	missense_variant	789/4147	547/1080	183/359	R/C	Cgc/Tgc		1		1	GNA11	HGNC	HGNC:4379	protein_coding	YES	CCDS12103.1	ENSP00000078429	P29992		UPI000004D209	NM_002067.4	deleterious(0)	probably_damaging(1)	4/7		Pfam_domain:PF00503;Pfam_domain:PF00025;Prints_domain:PR00318;SMART_domains:SM00275;Superfamily_domains:SSF52540;Superfamily_domains:SSF47895																	MODERATE	1	SNV	1			1											PASS	GGGTCCGCGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM21651	True	Unknown	T	3	4	80	3115014	3115014	C	T	1	0	0	0	0	1	0	0	0	6379	652	23	2		2	GNA11	19	3115014	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	53765	3115014	55502602	418	1591											
S1PR4	8698	BI	GRCh38	chr19	3179434	3179434	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggtgatcttcgccggCgtcctggccaccatcatggg	13	14	2	1	rs760646337	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.642C>T	p.=	p.G214G	ENST00000246115	1/1	186	132	54	220			S1PR4,synonymous_variant,p.G214G,ENST00000246115,NM_003775.3,c.642C>T,LOW,YES,,,1;S1PR4,non_coding_transcript_exon_variant,,ENST00000591346,,n.320C>T,MODIFIER,,,,1	T	ENST00000246115	Transcript	synonymous_variant	synonymous_variant	667/1565	642/1155	214/384	G	ggC/ggT	rs760646337	1		1	S1PR4	HGNC	HGNC:3170	protein_coding	YES	CCDS12105.1	ENSP00000246115	O95977		UPI0000050462	NM_003775.3			1/1		Pfam_domain:PF00001;Transmembrane_helices:Tmhmm;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV				1	2.471e-05	2.521e-05	0	8.664e-05	0	0	0	0	0.0001216		PASS	GCCGGCGTCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	3179434	3179434	C	T	1	0	0	0	0	0	0	0	1	14055	755	27	2		2	S1PR4	19	3179434	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	64420	3179434	55438182	419	1592											
MATK	4145	BI	GRCh38	chr19	3778528	3778528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattttagggtacggagccCgtccatatgagaagacctcc	10	12	0	2	rs780442262	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1265G>A	p.Arg422Gln	p.R422Q	ENST00000310132	13/14	16	10	6	24			MATK,missense_variant,p.R422Q,ENST00000310132,NM_139355.2,c.1265G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;MATK,missense_variant,p.R423Q,ENST00000395045,NM_002378.3,c.1268G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;MATK,missense_variant,p.R421Q,ENST00000585778,,c.1262G>A,MODERATE,,deleterious(0),probably_damaging(0.987),-1;MATK,missense_variant,p.R421Q,ENST00000612526,,c.1262G>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;MATK,missense_variant,p.R381Q,ENST00000395040,NM_139354.2,c.1142G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1;MATK,missense_variant,p.R423Q,ENST00000619596,,c.1268G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;MATK,downstream_gene_variant,,ENST00000590493,,,MODIFIER,,,,-1;MATK,downstream_gene_variant,,ENST00000587180,,,MODIFIER,,,,-1;MATK,downstream_gene_variant,,ENST00000588983,,,MODIFIER,,,,-1;AC005777.3,upstream_gene_variant,,ENST00000588332,,,MODIFIER,YES,,,-1	T	ENST00000310132	Transcript	missense_variant	missense_variant	1664/2133	1265/1524	422/507	R/Q	cGg/cAg	rs780442262	1		-1	MATK	HGNC	HGNC:6906	protein_coding		CCDS12114.1	ENSP00000308734	P42679	F1T0G6	UPI0000000C50	NM_139355.2	deleterious(0)	probably_damaging(0.996)	13/14		Pfam_domain:PF07714;Pfam_domain:PF00069;Prints_domain:PR00109;PROSITE_profiles:PS50011;SMART_domains:SM00220;SMART_domains:SM00219;Superfamily_domains:SSF56112																	MODERATE		SNV	1			1	9.062e-05	9.487e-05	0	0	0	0	0.000173	0	0		PASS	GAGCCCGTCCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	3778528	3778528	C	T	1	0	0	0	0	1	0	0	0	9258	652	23	2		2	MATK	19	3778528	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	599094	3778528	54839088	420	1593											
ZBTB7A	51341	BI	GRCh38	chr19	4054869	4054869	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggaggtcggcgcacaCgtggctcacggcggggatct	17	12	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.364G>A	p.Val122Met	p.V122M	ENST00000322357	2/3	10	5	5	12			ZBTB7A,missense_variant,p.V122M,ENST00000322357,NM_015898.2,c.364G>A,MODERATE,YES,deleterious(0),probably_damaging(0.996),-1;ZBTB7A,missense_variant,p.V122M,ENST00000601588,,c.364G>A,MODERATE,,deleterious(0),probably_damaging(0.996),-1	T	ENST00000322357	Transcript	missense_variant	missense_variant	643/5422	364/1755	122/584	V/M	Gtg/Atg		1		-1	ZBTB7A	HGNC	HGNC:18078	protein_coding	YES	CCDS12119.1	ENSP00000323670	O95365		UPI000006E9D9	NM_015898.2	deleterious(0)	probably_damaging(0.996)	2/3		Pfam_domain:PF00651;SMART_domains:SM00225;Superfamily_domains:SSF54695																	MODERATE	1	SNV	1			1											PASS	GCACACGTGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	4054869	4054869	C	T	1	0	0	0	0	1	0	0	0	18123	536	19	1		1	ZBTB7A	19	4054869	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	276341	4054869	54562747	421	1594											
HSD11B1L	374875	BI	GRCh38	chr19	5687638	5687638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgtgcgtcctgggcctccGagatcgcgcctccgccgccg	13	18	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.638G>A	p.Arg213Gln	p.R213Q	ENST00000423665	7/8	10	6	4	9			HSD11B1L,missense_variant,p.R213Q,ENST00000581521,,c.638G>A,MODERATE,,tolerated(0.11),benign(0.005),1;HSD11B1L,missense_variant,p.R213Q,ENST00000581773,,c.638G>A,MODERATE,,tolerated(0.11),benign(0.005),1;HSD11B1L,missense_variant,p.R213Q,ENST00000339423,NM_198706.2,c.638G>A,MODERATE,,tolerated(0.11),benign(0.005),1;HSD11B1L,missense_variant,p.R126Q,ENST00000342970,NM_198707.2,c.377G>A,MODERATE,,tolerated(0.1),benign(0.005),1;HSD11B1L,missense_variant,p.R260Q,ENST00000616276,NM_001267868.1,c.779G>A,MODERATE,YES,tolerated(0.13),benign(0.013),1;HSD11B1L,missense_variant,p.R132Q,ENST00000577917,NM_001267871.1,c.395G>A,MODERATE,,tolerated(0.35),benign(0.184),1;HSD11B1L,missense_variant,p.R79Q,ENST00000581893,NM_001267869.1&NM_198708.2,c.236G>A,MODERATE,,tolerated(0.07),benign(0.005),1;HSD11B1L,missense_variant,p.R213Q,ENST00000423665,NM_198533.2,c.638G>A,MODERATE,,tolerated(0.15),benign(0.017),1;HSD11B1L,missense_variant,p.R132Q,ENST00000301382,NM_198705.2,c.395G>A,MODERATE,,tolerated(0.1),benign(0.009),1;HSD11B1L,missense_variant,p.R79Q,ENST00000411793,NM_198704.2,c.236G>A,MODERATE,,tolerated(0.37),benign(0.017),1;HSD11B1L,missense_variant,p.R79Q,ENST00000583928,,c.236G>A,MODERATE,,tolerated(0.07),benign(0.005),1;HSD11B1L,missense_variant,p.R125Q,ENST00000578046,,c.373G>A,MODERATE,,tolerated(0.06),benign(0.005),1;HSD11B1L,synonymous_variant,p.P101P,ENST00000579559,NM_001267870.1,c.303G>A,LOW,,,,1;RPL36,intron_variant,,ENST00000577222,,c.-299-2393G>A,MODIFIER,YES,,,1;RPL36,intron_variant,,ENST00000579649,,c.-59-2695G>A,MODIFIER,,,,1;LONP1,downstream_gene_variant,,ENST00000360614,NM_004793.3,,MODIFIER,YES,,,-1;LONP1,downstream_gene_variant,,ENST00000540670,NM_001276480.1,,MODIFIER,,,,-1;LONP1,downstream_gene_variant,,ENST00000593119,NM_001276479.1,,MODIFIER,,,,-1;LONP1,downstream_gene_variant,,ENST00000585374,,,MODIFIER,,,,-1;LONP1,downstream_gene_variant,,ENST00000590729,,,MODIFIER,,,,-1;HSD11B1L,downstream_gene_variant,,ENST00000577257,,,MODIFIER,,,,1;LONP1,downstream_gene_variant,,ENST00000589473,,,MODIFIER,,,,-1;HSD11B1L,downstream_gene_variant,,ENST00000422535,,,MODIFIER,,,,1;RPL36,upstream_gene_variant,,ENST00000347512,NM_033643.2,,MODIFIER,,,,1;RPL36,upstream_gene_variant,,ENST00000394580,NM_015414.3,,MODIFIER,,,,1;RPL36,upstream_gene_variant,,ENST00000579446,,,MODIFIER,,,,1;RPL36,upstream_gene_variant,,ENST00000582463,,,MODIFIER,,,,1;RPL36,intron_variant,,ENST00000582380,,n.246-2393G>A,MODIFIER,,,,1;HSD11B1L,downstream_gene_variant,,ENST00000577701,,,MODIFIER,,,,1;HSD11B1L,3_prime_UTR_variant,,ENST00000579562,,c.*298G>A,MODIFIER,,,,1;HSD11B1L,non_coding_transcript_exon_variant,,ENST00000578167,,n.841G>A,MODIFIER,,,,1;HSD11B1L,non_coding_transcript_exon_variant,,ENST00000577920,,n.838G>A,MODIFIER,,,,1;HSD11B1L,non_coding_transcript_exon_variant,,ENST00000581423,,n.274G>A,MODIFIER,,,,1;LONP1,downstream_gene_variant,,ENST00000590558,,,MODIFIER,,,,-1;LONP1,downstream_gene_variant,,ENST00000587552,,,MODIFIER,,,,-1;RPL36,upstream_gene_variant,,ENST00000590786,,,MODIFIER,,,,1;HSD11B1L,downstream_gene_variant,,ENST00000582346,,,MODIFIER,,,,1;HSD11B1L,downstream_gene_variant,,ENST00000584904,,,MODIFIER,,,,1;HSD11B1L,downstream_gene_variant,,ENST00000578832,,,MODIFIER,,,,1	A	ENST00000423665	Transcript	missense_variant	missense_variant	888/1525	638/948	213/315	R/Q	cGa/cAa		1		1	HSD11B1L	HGNC	HGNC:30419	protein_coding		CCDS45931.1	ENSP00000407154	Q7Z5J1		UPI00001B2966	NM_198533.2	tolerated(0.15)	benign(0.017)	7/8																			MODERATE		SNV	1			1											PASS	CCTCCGAGATC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	5687638	5687638	G	A	1	0	0	0	0	1	0	0	0	7271	1058	37	2		2	HSD11B1L	19	5687638	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1632769	5687638	52929978	422	1595											
MYO1F	4542	BI	GRCh38	chr19	8536319	8536319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgggctccatgttgaccGcccgaagcaggtgctggacg	16	12	0	1	rs201138222	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1976C>T	p.Ala659Val	p.A659V	ENST00000338257	19/28	48	40	8	55			MYO1F,missense_variant,p.A659V,ENST00000338257,NM_012335.3,c.1976C>T,MODERATE,YES,deleterious(0.02),benign(0.23),-1;MYO1F,missense_variant,p.A659V,ENST00000613525,,c.1976C>T,MODERATE,,deleterious(0.02),benign(0.23),-1;MYO1F,synonymous_variant,p.G153G,ENST00000598005,,c.459C>T,LOW,,,,-1;MYO1F,non_coding_transcript_exon_variant,,ENST00000597222,,n.390C>T,MODIFIER,,,,-1;MYO1F,downstream_gene_variant,,ENST00000602136,,,MODIFIER,,,,-1	A	ENST00000338257	Transcript	missense_variant	missense_variant	2244/4303	1976/3297	659/1098	A/V	gCg/gTg	rs201138222	1		-1	MYO1F	HGNC	HGNC:7600	protein_coding	YES	CCDS42494.1	ENSP00000344871	O00160		UPI00001678F0	NM_012335.3	deleterious(0.02)	benign(0.23)	19/28		Pfam_domain:PF00063;SMART_domains:SM00242;Superfamily_domains:SSF52540	2e-04	8e-04	0		0	0	0										MODERATE	1	SNV	1			1	1.653e-05	1.675e-05	0.0001044	8.694e-05	0	0	0	0	0		PASS	TGACCGCCCGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1286451	True	Unknown	A	3	1	80	8536319	8536319	G	A	1	0	0	0	0	1	0	0	0	10074	1087	38	2		2	MYO1F	19	8536319	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2848681	8536319	50081297	423	1596											
KRI1	65095	BI	GRCh38	chr19	10561226	10561226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccgccctccccagcGccgtcctcgtcctcactgtc	9	21	1	0	rs565439115	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.546C>T	p.=	p.G182G	ENST00000312962	7/19	44	40	4	66			KRI1,synonymous_variant,p.G182G,ENST00000312962,NM_023008.3,c.546C>T,LOW,YES,,,-1;KRI1,synonymous_variant,p.G64G,ENST00000432197,,c.192C>T,LOW,,,,-1;KRI1,synonymous_variant,p.G120G,ENST00000543682,,c.359C>T,LOW,,,,-1;KRI1,intron_variant,,ENST00000539027,,c.429+565C>T,MODIFIER,,,,-1;KRI1,non_coding_transcript_exon_variant,,ENST00000537964,,n.430C>T,MODIFIER,,,,-1;KRI1,upstream_gene_variant,,ENST00000618579,,,MODIFIER,,,,-1;KRI1,non_coding_transcript_exon_variant,,ENST00000536689,,n.1208C>T,MODIFIER,,,,-1;KRI1,non_coding_transcript_exon_variant,,ENST00000612875,,n.664C>T,MODIFIER,,,,-1;KRI1,non_coding_transcript_exon_variant,,ENST00000478863,,n.500C>T,MODIFIER,,,,-1;KRI1,non_coding_transcript_exon_variant,,ENST00000546063,,n.537C>T,MODIFIER,,,,-1;KRI1,upstream_gene_variant,,ENST00000537363,,,MODIFIER,,,,-1;KRI1,upstream_gene_variant,,ENST00000536714,,,MODIFIER,,,,-1;KRI1,upstream_gene_variant,,ENST00000537433,,,MODIFIER,,,,-1;KRI1,upstream_gene_variant,,ENST00000543842,,,MODIFIER,,,,-1;KRI1,downstream_gene_variant,,ENST00000544397,,,MODIFIER,,,,-1	A	ENST00000312962	Transcript	synonymous_variant	synonymous_variant	566/3023	546/2130	182/709	G	ggC/ggT	rs565439115	1		-1	KRI1	HGNC	HGNC:25769	protein_coding	YES	CCDS12242.1	ENSP00000320917	Q8N9T8		UPI0000246DCC	NM_023008.3			7/19		Low_complexity_(Seg):Seg;PROSITE_profiles:PS50313	2e-04	0	0		0	0	0.001										LOW	1	SNV	2			1	1.647e-05	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05		PASS	CCAGCGCCGTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	10561226	10561226	G	A	1	0	0	0	0	0	0	0	1	8326	1074	38	2		2	KRI1	19	10561226	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2024907	10561226	48056390	424	1597											
SMARCA4	6597	BI	GRCh38	chr19	11021837	11021837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	11	18	0	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2729C>T	p.Thr910Met	p.T910M	ENST00000344626	19/35	18	5	13	40			SMARCA4,missense_variant,p.T910M,ENST00000429416,NM_001128844.1,c.2729C>T,MODERATE,YES,,probably_damaging(0.99),1;SMARCA4,missense_variant,p.T974M,ENST00000413806,,c.2921C>T,MODERATE,,,probably_damaging(0.994),1;SMARCA4,missense_variant,p.T910M,ENST00000450717,NM_001128849.1,c.2729C>T,MODERATE,,,probably_damaging(0.997),1;SMARCA4,missense_variant,p.T910M,ENST00000344626,NM_003072.3,c.2729C>T,MODERATE,,,probably_damaging(0.99),1;SMARCA4,missense_variant,p.T910M,ENST00000590574,NM_001128847.1,c.2729C>T,MODERATE,,,probably_damaging(0.997),1;SMARCA4,missense_variant,p.T910M,ENST00000589677,NM_001128846.1,c.2729C>T,MODERATE,,,probably_damaging(0.997),1;SMARCA4,missense_variant,p.T910M,ENST00000541122,NM_001128845.1,c.2729C>T,MODERATE,,,probably_damaging(0.997),1;SMARCA4,missense_variant,p.T910M,ENST00000444061,NM_001128848.1,c.2729C>T,MODERATE,,,probably_damaging(0.997),1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000586122,,n.311C>T,MODIFIER,,,,1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591545,,n.2603C>T,MODIFIER,,,,1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000585799,,n.1257C>T,MODIFIER,,,,1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000591595,,n.801C>T,MODIFIER,,,,1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000592604,,n.642C>T,MODIFIER,,,,1;SMARCA4,non_coding_transcript_exon_variant,,ENST00000587988,,n.378C>T,MODIFIER,,,,1	T	ENST00000344626	Transcript	missense_variant	missense_variant	2934/5392	2729/4944	910/1647	T/M	aCg/aTg		1		1	SMARCA4	HGNC	HGNC:11100	protein_coding		CCDS12253.1	ENSP00000343896	P51532	A7E2E1	UPI000006F973	NM_003072.3		probably_damaging(0.99)	19/35		Pfam_domain:PF00176;PROSITE_profiles:PS51192;SMART_domains:SM00487;Superfamily_domains:SSF52540																	MODERATE		SNV	1			1											PASS	GCTGACGGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1226753;COSM88025	True	Unknown	T	3	4	80	11021837	11021837	C	T	1	0	0	0	0	1	0	0	0	15063	536	19	1		1	SMARCA4	19	11021837	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	460611	11021837	47595779	425	1598											
ZNF442	79973	BI	GRCh38	chr19	12350696	12350696	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaaggctcttccacatcGtttacatttatagggttttt	7	8	1	1	rs78444677	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.889C>T	p.Arg297Ter	p.R297*	ENST00000242804	6/6	109	57	52	170			ZNF442,stop_gained,p.R297*,ENST00000242804,NM_030824.2,c.889C>T,HIGH,YES,,,-1;ZNF442,stop_gained,p.R228*,ENST00000438182,,c.682C>T,HIGH,,,,-1;ZNF442,stop_gained,p.R297*,ENST00000545749,,c.889C>T,HIGH,,,,-1;ZNF442,downstream_gene_variant,,ENST00000424168,,,MODIFIER,,,,-1;ZNF442,downstream_gene_variant,,ENST00000462995,,,MODIFIER,,,,-1	A	ENST00000242804	Transcript	stop_gained	stop_gained	1472/6219	889/1884	297/627	R/*	Cga/Tga	rs78444677	1		-1	ZNF442	HGNC	HGNC:20877	protein_coding	YES	CCDS12271.1	ENSP00000242804	Q9H7R0		UPI000006D14F	NM_030824.2			6/6		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667	0.0022	0.0038	0		0.006	0	0	0.0066	0								HIGH	1	SNV	2			1	0.001005	0.001005	0.006631	0.0002592	0.005315	0	0	0	0.0002423		panel_of_normals	ACATCGTTTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	4	1	80	12350696	12350696	G	A	1	0	0	0	0	0	1	0	0	18486	1153	40	1		1	ZNF442	19	12350696	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1328859	12350696	46266920	426	1599											
DHPS	1725	BI	GRCh38	chr19	12679863	12679863	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcgcccaagtatgtgggCgccaggcacttgatgaggtc	13	11	0	2	rs776689877	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.432G>A	p.=	p.A144A	ENST00000210060	3/9	40	34	6	46			DHPS,synonymous_variant,p.A144A,ENST00000210060,NM_001930.3,c.432G>A,LOW,YES,,,-1;DHPS,synonymous_variant,p.A102A,ENST00000594424,NM_001206974.1,c.306G>A,LOW,,,,-1;DHPS,synonymous_variant,p.A143A,ENST00000614126,,c.429G>A,LOW,,,,-1;DHPS,synonymous_variant,p.A144A,ENST00000351660,NM_013406.2,c.432G>A,LOW,,,,-1;DHPS,synonymous_variant,p.A21A,ENST00000597152,,c.63G>A,LOW,,,,-1;DHPS,synonymous_variant,p.A77A,ENST00000596162,,c.231G>A,LOW,,,,-1;WDR83,downstream_gene_variant,,ENST00000418543,NM_032332.3&NM_001099737.2,,MODIFIER,YES,,,1;WDR83,downstream_gene_variant,,ENST00000547797,,,MODIFIER,,,,1;DHPS,upstream_gene_variant,,ENST00000598246,,,MODIFIER,,,,-1;DHPS,upstream_gene_variant,,ENST00000600864,,,MODIFIER,,,,-1;DHPS,upstream_gene_variant,,ENST00000600639,,,MODIFIER,,,,-1;CTD-2192J16.26,downstream_gene_variant,,ENST00000593554,,,MODIFIER,YES,,,-1;DHPS,non_coding_transcript_exon_variant,,ENST00000599481,,n.319G>A,MODIFIER,,,,-1;DHPS,missense_variant,p.A133T,ENST00000595912,,c.397G>A,MODERATE,,,unknown(0),-1;DHPS,missense_variant,p.A50T,ENST00000600451,,c.146G>A,MODERATE,,,unknown(0),-1;DHPS,synonymous_variant,p.A144A,ENST00000601537,,c.432G>A,LOW,,,,-1;DHPS,3_prime_UTR_variant,,ENST00000598850,,c.*132G>A,MODIFIER,,,,-1;DHPS,3_prime_UTR_variant,,ENST00000595100,,c.*44G>A,MODIFIER,,,,-1;DHPS,3_prime_UTR_variant,,ENST00000593423,,c.*44G>A,MODIFIER,,,,-1;DHPS,non_coding_transcript_exon_variant,,ENST00000595844,,n.120G>A,MODIFIER,,,,-1;DHPS,non_coding_transcript_exon_variant,,ENST00000596847,,n.168G>A,MODIFIER,,,,-1;DHPS,non_coding_transcript_exon_variant,,ENST00000593400,,n.52G>A,MODIFIER,,,,-1;DHPS,non_coding_transcript_exon_variant,,ENST00000593432,,n.315G>A,MODIFIER,,,,-1;DHPS,intron_variant,,ENST00000601639,,c.373-144G>A,MODIFIER,,,,-1;WDR83,downstream_gene_variant,,ENST00000546754,,,MODIFIER,,,,1;WDR83,downstream_gene_variant,,ENST00000548381,,,MODIFIER,,,,1;DHPS,upstream_gene_variant,,ENST00000600510,,,MODIFIER,,,,-1;WDR83,downstream_gene_variant,,ENST00000552700,,,MODIFIER,,,,1;WDR83,downstream_gene_variant,,ENST00000425834,,,MODIFIER,,,,1;DHPS,downstream_gene_variant,,ENST00000593473,,,MODIFIER,,,,-1	T	ENST00000210060	Transcript	synonymous_variant	synonymous_variant	568/1363	432/1110	144/369	A	gcG/gcA	rs776689877	1		-1	DHPS	HGNC	HGNC:2869	protein_coding	YES	CCDS12276.1	ENSP00000210060	P49366	A0A024R7D0	UPI00001293B4	NM_001930.3			3/9		Pfam_domain:PF01916;TIGRFAM_domain:TIGR00321;Superfamily_domains:SSF52467																	LOW	1	SNV	1			1	1.647e-05	1.655e-05	0	0	0	0	3.009e-05	0	0		panel_of_normals	GTGGGCGCCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	12679863	12679863	C	T	1	0	0	0	0	0	0	0	1	4290	755	27	2		2	DHPS	19	12679863	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	329167	12679863	45937753	427	1600											
RNASEH2A	10535	BI	GRCh38	chr19	12807497	12807497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcattggaccagggcgtgaaCgtcacccaggtgagttaact	13	10	1	2	rs778120777		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.402C>T	p.=	p.N134N	ENST00000221486	4/8	57	21	36	67			RNASEH2A,synonymous_variant,p.N134N,ENST00000221486,NM_006397.2,c.402C>T,LOW,YES,,,1;HOOK2,intron_variant,,ENST00000589765,,n.41+17681G>A,MODIFIER,,,,-1;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000593017,,n.817C>T,MODIFIER,,,,1;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000590121,,n.399C>T,MODIFIER,,,,1;RNASEH2A,non_coding_transcript_exon_variant,,ENST00000590279,,n.688C>T,MODIFIER,,,,1	T	ENST00000221486	Transcript	synonymous_variant	synonymous_variant	496/1165	402/900	134/299	N	aaC/aaT	rs778120777	1		1	RNASEH2A	HGNC	HGNC:18518	protein_coding	YES	CCDS12282.1	ENSP00000221486	O75792		UPI00001343E6	NM_006397.2			4/8		Pfam_domain:PF01351;TIGRFAM_domain:TIGR00729;Superfamily_domains:SSF53098																	LOW	1	SNV	1			1	8.236e-06	8.269e-06	0	0	0	0	1.502e-05	0	0		PASS	GTGAACGTCAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	12807497	12807497	C	T	1	0	0	0	0	0	0	0	1	13591	535	19	1		1	RNASEH2A	19	12807497	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	127634	12807497	45810119	428	1601											
CASP14	23581	BI	GRCh38	chr19	15055445	15055445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggatacatcgcctaccGacatgatcagaaaggctcat	8	13	2	2	rs185297693	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.536G>A	p.Arg179Gln	p.R179Q	ENST00000427043	6/7	93	79	14	104			CASP14,missense_variant,p.R179Q,ENST00000427043,NM_012114.2,c.536G>A,MODERATE,YES,deleterious(0),probably_damaging(0.985),1;AC004699.1,downstream_gene_variant,,ENST00000411269,,,MODIFIER,YES,,,1;CASP14,non_coding_transcript_exon_variant,,ENST00000598738,,n.389G>A,MODIFIER,,,,1	A	ENST00000427043	Transcript	missense_variant	missense_variant	844/3241	536/729	179/242	R/Q	cGa/cAa	rs185297693	1		1	CASP14	HGNC	HGNC:1502	protein_coding	YES	CCDS12323.1	ENSP00000393417	P31944	B2CIS9	UPI0000044176	NM_012114.2	deleterious(0)	probably_damaging(0.985)	6/7		Pfam_domain:PF00656;Prints_domain:PR00376;PROSITE_profiles:PS50207;SMART_domains:SM00115;Superfamily_domains:SSF52129	0.0032	0.003	0		0.0099	0	0.002										MODERATE	1	SNV	1			1	0.0003789	0.000379	0.0002884	0.0003457	0.003585	0	1.499e-05	0.001101	0.0003635		panel_of_normals	CTACCGACATG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM4074911	True	Unknown	A	3	1	80	15055445	15055445	G	A	1	0	0	0	0	1	0	0	0	2370	1058	37	2		2	CASP14	19	15055445	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2247948	15055445	43562171	429	1602											
OR10H1	26539	BI	GRCh38	chr19	15807639	15807639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcgggctcatgagcacGttgtagcgcagggggtggca	17	12	1	1	rs187451101	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.399C>T	p.=	p.N133N	ENST00000334920	1/1	30	24	6	62			OR10H1,synonymous_variant,p.N133N,ENST00000334920,NM_013940.2,c.399C>T,LOW,YES,,,-1	A	ENST00000334920	Transcript	synonymous_variant	synonymous_variant	488/1124	399/957	133/318	N	aaC/aaT	rs187451101	1		-1	OR10H1	HGNC	HGNC:8172	protein_coding	YES	CCDS12335.1	ENSP00000335596	Q9Y4A9		UPI000004CA3D	NM_013940.2			1/1		Pfam_domain:PF00001;Pfam_domain:PF10320;Prints_domain:PR00245;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321	8e-04	0	0		0.004	0	0	0	2e-04								LOW	1	SNV				1	0.00014	0.0001402	0	8.651e-05	0.001734	0	1.501e-05	0	0		PASS	AGCACGTTGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM269768	True	Unknown	A	2	1	80	15807639	15807639	G	A	1	0	0	0	0	0	0	0	1	10982	1136	40	1		1	OR10H1	19	15807639	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	752194	15807639	42809977	430	1603											
ABHD8	79575	BI	GRCh38	chr19	17301301	17301301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccagagccattctgccCgtgtaggaggtcggctcgag	13	14	1	1	rs773559603	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.316G>A	p.Gly106Arg	p.G106R	ENST00000247706	2/5	49	27	22	76			ABHD8,missense_variant,p.G106R,ENST00000247706,NM_024527.4,c.316G>A,MODERATE,YES,tolerated_low_confidence(0.25),benign(0.246),-1;ABHD8,missense_variant,p.G127R,ENST00000594194,,c.379G>A,MODERATE,,tolerated_low_confidence(0.07),possibly_damaging(0.845),-1;ABHD8,missense_variant,p.G122R,ENST00000593489,,c.364G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.907),-1;MRPL34,intron_variant,,ENST00000595444,,c.215-4530C>T,MODIFIER,,,,1;MRPL34,intron_variant,,ENST00000600434,,c.-63+2924C>T,MODIFIER,,,,1;MRPL34,upstream_gene_variant,,ENST00000252602,NM_023937.3,,MODIFIER,YES,,,1;MRPL34,upstream_gene_variant,,ENST00000602206,,,MODIFIER,,,,1;MRPL34,upstream_gene_variant,,ENST00000594999,,,MODIFIER,,,,1;CTD-2278I10.4,upstream_gene_variant,,ENST00000594077,,,MODIFIER,YES,,,-1;MRPL34,downstream_gene_variant,,ENST00000597996,,,MODIFIER,,,,1	T	ENST00000247706	Transcript	missense_variant	missense_variant	556/2090	316/1320	106/439	G/R	Ggg/Agg	rs773559603	1		-1	ABHD8	HGNC	HGNC:23759	protein_coding	YES	CCDS12355.1	ENSP00000247706	Q96I13	B2C6G3	UPI0000043630	NM_024527.4	tolerated_low_confidence(0.25)	benign(0.246)	2/5																			MODERATE	1	SNV	1			1	8.395e-06	9.101e-06	0	0	0	0	1.677e-05	0	0		panel_of_normals	CTGCCCGTGTA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	17301301	17301301	C	T	1	0	0	0	0	1	0	0	0	97	652	23	2		2	ABHD8	19	17301301	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1493662	17301301	41316315	431	1604											
KLHL26	55295	BI	GRCh38	chr19	18668080	18668080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgagatcgacctgttccGcgcggccgtccgctggctgc	14	16	0	1	rs148044384	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.683G>A	p.Arg228His	p.R228H	ENST00000300976	3/3	39	18	21	48			KLHL26,missense_variant,p.R228H,ENST00000300976,NM_018316.1,c.683G>A,MODERATE,YES,tolerated(0.79),benign(0.004),1;KLHL26,intron_variant,,ENST00000599006,,c.405+278G>A,MODIFIER,,,,1;KLHL26,downstream_gene_variant,,ENST00000595423,,,MODIFIER,,,,1;KLHL26,downstream_gene_variant,,ENST00000595182,,,MODIFIER,,,,1;KLHL26,downstream_gene_variant,,ENST00000596843,,,MODIFIER,,,,1;KLHL26,downstream_gene_variant,,ENST00000600657,,,MODIFIER,,,,1	A	ENST00000300976	Transcript	missense_variant	missense_variant	773/4407	683/1848	228/615	R/H	cGc/cAc	rs148044384	1		1	KLHL26	HGNC	HGNC:25623	protein_coding	YES	CCDS12384.1	ENSP00000300976	Q53HC5	A0A024R7N5	UPI0000071AC2	NM_018316.1	tolerated(0.79)	benign(0.004)	3/3		Pfam_domain:PF07707;SMART_domains:SM00875;PIRSF_domain:PIRSF037037								2e-04	0								MODERATE	1	SNV	1			1	1.653e-05	1.719e-05	0.0001058	0	0	0	1.58e-05	0	0		PASS	GTTCCGCGCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4075715	True	Unknown	A	3	1	80	18668080	18668080	G	A	1	0	0	0	0	1	0	0	0	8245	1087	38	2		2	KLHL26	19	18668080	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1366779	18668080	39949536	432	1605											
SUGP2	10147	BI	GRCh38	chr19	19004330	19004330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctcgccgggaaggcCgtcggcaggggtgctgccct	18	14	0	0	rs144507791	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2767G>A	p.Gly923Ser	p.G923S	ENST00000337018	7/11	12	8	4	27			SUGP2,missense_variant,p.G923S,ENST00000601879,,c.2767G>A,MODERATE,YES,tolerated_low_confidence(0.15),benign(0.009),-1;SUGP2,missense_variant,p.G937S,ENST00000600377,,c.2809G>A,MODERATE,,tolerated_low_confidence(0.13),benign(0.012),-1;SUGP2,missense_variant,p.G923S,ENST00000452918,NM_001017392.3,c.2767G>A,MODERATE,,tolerated_low_confidence(0.15),benign(0.009),-1;SUGP2,missense_variant,p.G923S,ENST00000337018,NM_014884.3,c.2767G>A,MODERATE,,tolerated_low_confidence(0.15),benign(0.009),-1;SUGP2,3_prime_UTR_variant,,ENST00000600239,,c.*342G>A,MODIFIER,,,,-1;SUGP2,3_prime_UTR_variant,,ENST00000598240,,c.*1817G>A,MODIFIER,,,,-1;SUGP2,intron_variant,,ENST00000594773,,c.2668-57G>A,MODIFIER,,,,-1;SUGP2,intron_variant,,ENST00000330854,,c.2668-57G>A,MODIFIER,,,,-1;SUGP2,upstream_gene_variant,,ENST00000597280,,,MODIFIER,,,,-1;SUGP2,upstream_gene_variant,,ENST00000593795,,,MODIFIER,,,,-1	T	ENST00000337018	Transcript	missense_variant	missense_variant	2901/3640	2767/3249	923/1082	G/S	Ggc/Agc	rs144507791	1		-1	SUGP2	HGNC	HGNC:18641	protein_coding		CCDS12392.1	ENSP00000337926	Q8IX01		UPI000019825D	NM_014884.3	tolerated_low_confidence(0.15)	benign(0.009)	7/11										2e-04	0								MODERATE		SNV	1			1	3.295e-05	3.36e-05	0.0001967	0	0.0001186	0	0	0	6.146e-05		PASS	AAGGCCGTCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	19004330	19004330	C	T	1	0	0	0	0	1	0	0	0	15756	652	23	2		2	SUGP2	19	19004330	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	336250	19004330	39613286	433	1606											
ZNF90	0	BI	GRCh38	chr19	20125122	20125122	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtggcgcactgcagaCgcggcaatggtctcatcaag	13	12	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	n.79C>T			ENST00000497576	1/1	29	14	15	19			ZNF90,missense_variant,p.R27C,ENST00000434475,,c.79C>T,MODERATE,,deleterious(0.01),benign(0.009),1;CTC-260E6.6,downstream_gene_variant,,ENST00000590606,,,MODIFIER,,,,-1;CTC-260E6.6,downstream_gene_variant,,ENST00000593655,,,MODIFIER,,,,-1;CTC-260E6.6,downstream_gene_variant,,ENST00000586657,,,MODIFIER,,,,-1;ZNF90,non_coding_transcript_exon_variant,,ENST00000474284,,n.355C>T,MODIFIER,,,,1;ZNF90,3_prime_UTR_variant,,ENST00000469078,,c.*129C>T,MODIFIER,,,,1;ZNF90,non_coding_transcript_exon_variant,,ENST00000484032,,n.640C>T,MODIFIER,,,,1;CTC-260E6.2,non_coding_transcript_exon_variant,,ENST00000497576,,n.79C>T,MODIFIER,YES,,,1	T	ENST00000497576	Transcript	non_coding_transcript_exon_variant	non_coding_transcript_exon_variant;non_coding_transcript_variant	79/441						1		1	CTC-260E6.2	Clone_based_vega_gene		transcribed_processed_pseudogene	YES									1/1																			MODIFIER	1	SNV				1											PASS	GCAGACGCGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	1	4	80	20125122	20125122	C	T	0	1	0	0	0	0	0	0	0	18792	536	19	1		1	ZNF90	19	20125122	RNA	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1120792	20125122	38492494	434	1607											
LRFN3	79414	BI	GRCh38	chr19	35939726	35939726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatccgccacgtggctgccGgcgccttcgccgacctgcgg	13	19	0	0	rs760444261	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.301G>A	p.Gly101Ser	p.G101S	ENST00000246529	2/3	27	9	18	52			LRFN3,missense_variant,p.G101S,ENST00000588831,,c.301G>A,MODERATE,YES,tolerated(0.4),benign(0.048),1;LRFN3,missense_variant,p.G101S,ENST00000246529,NM_024509.1,c.301G>A,MODERATE,,tolerated(0.4),benign(0.048),1;LRFN3,downstream_gene_variant,,ENST00000585876,,,MODIFIER,,,,1;LRFN3,downstream_gene_variant,,ENST00000587257,,,MODIFIER,,,,1	A	ENST00000246529	Transcript	missense_variant	missense_variant	753/2513	301/1887	101/628	G/S	Ggc/Agc	rs760444261	1		1	LRFN3	HGNC	HGNC:28370	protein_coding		CCDS12483.1	ENSP00000246529	Q9BTN0			NM_024509.1	tolerated(0.4)	benign(0.048)	2/3		Low_complexity_(Seg):Seg;SMART_domains:SM00369;Superfamily_domains:SSF52058																	MODERATE		SNV	1			1	2.513e-05	2.738e-05	0	0	0	0	5.043e-05	0	0		PASS	CTGCCGGCGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	35939726	35939726	G	A	1	0	0	0	0	1	0	0	0	8833	1116	39	2		2	LRFN3	19	35939726	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	15814604	35939726	22677890	435	1608											
SIPA1L3	23094	BI	GRCh38	chr19	38083019	38083019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaggagcagcagcggaCgcagagtcggccccggcagt	15	14	0	1	rs778077624		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1454C>T	p.Thr485Met	p.T485M	ENST00000222345	3/22	36	31	5	29			SIPA1L3,missense_variant,p.T485M,ENST00000222345,NM_015073.1,c.1454C>T,MODERATE,YES,tolerated(0.17),benign(0.107),1;SIPA1L3,downstream_gene_variant,,ENST00000476317,,,MODIFIER,,,,1;SIPA1L3,upstream_gene_variant,,ENST00000595982,,,MODIFIER,,,,1	T	ENST00000222345	Transcript	missense_variant	missense_variant	1963/7987	1454/5346	485/1781	T/M	aCg/aTg	rs778077624	1		1	SIPA1L3	HGNC	HGNC:23801	protein_coding	YES	CCDS33007.1	ENSP00000222345	O60292			NM_015073.1	tolerated(0.17)	benign(0.107)	3/22																			MODERATE	1	SNV	1			1	8.237e-06	8.417e-06	0	0	0	0	0	0	6.062e-05		PASS	GCGGACGCAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	38083019	38083019	C	T	1	0	0	0	0	1	0	0	0	14594	536	19	1		1	SIPA1L3	19	38083019	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2143293	38083019	20534597	436	1609											
KCNK6	9424	BI	GRCh38	chr19	38326773	38326773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgggacccccggcgggCggcctgctggcacttggtgg	20	13	0	0	rs145525515	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.503C>T	p.Ala168Val	p.A168V	ENST00000263372	2/3	48	38	10	56			KCNK6,missense_variant,p.A168V,ENST00000263372,NM_004823.1,c.503C>T,MODERATE,YES,tolerated(1),benign(0.031),1;KCNK6,downstream_gene_variant,,ENST00000588137,,,MODIFIER,,,,1	T	ENST00000263372	Transcript	missense_variant	missense_variant	610/5722	503/942	168/313	A/V	gCg/gTg	rs145525515	1		1	KCNK6	HGNC	HGNC:6281	protein_coding	YES	CCDS12513.1	ENSP00000263372	Q9Y257	B2RDS2	UPI0000030CB7	NM_004823.1	tolerated(1)	benign(0.031)	2/3		Superfamily_domains:SSF81324;PIRSF_domain:PIRSF038061	8e-04	0.003	0		0	0	0	0.0054	6e-04								MODERATE	1	SNV	1			1	0.0008566	0.0008626	0.00585	0.00026	0	0	0.0005738	0.001109	0.0001214		panel_of_normals	GCGGGCGGCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM245161	True	Unknown	T	3	4	80	38326773	38326773	C	T	1	0	0	0	0	1	0	0	0	7987	768	27	2		2	KCNK6	19	38326773	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	243754	38326773	20290843	437	1610											
LRFN1	57622	BI	GRCh38	chr19	39314441	39314441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctgccgtgtgatcagcGggggctcacacaggaactcc	13	15	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.896C>T	p.Pro299Leu	p.P299L	ENST00000248668	1/2	12	4	8	26			LRFN1,missense_variant,p.P299L,ENST00000248668,NM_020862.1,c.896C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;CTC-246B18.8,downstream_gene_variant,,ENST00000601911,,,MODIFIER,YES,,,-1	A	ENST00000248668	Transcript	missense_variant	missense_variant	896/3381	896/2316	299/771	P/L	cCg/cTg		1		-1	LRFN1	HGNC	HGNC:29290	protein_coding	YES	CCDS46071.1	ENSP00000248668	Q9P244		UPI00001A5C55	NM_020862.1	deleterious(0)	probably_damaging(1)	1/2		PROSITE_profiles:PS50835;Superfamily_domains:SSF52058;Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	TCAGCGGGGGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	39314441	39314441	G	A	1	0	0	0	0	1	0	0	0	8831	1116	39	2		2	LRFN1	19	39314441	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	987668	39314441	19303175	438	1611											
ZNF546	339327	BI	GRCh38	chr19	40015125	40015125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaatgtgggaaagcctttCgatttcaaacagaacttact	8	7	1	2	rs765037445	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1855C>T	p.Arg619Ter	p.R619*	ENST00000347077	7/7	26	16	10	39			ZNF546,stop_gained,p.R619*,ENST00000347077,NM_178544.3&NM_001297763.1,c.1855C>T,HIGH,YES,,,1;ZNF546,stop_gained,p.R593*,ENST00000600094,,c.1777C>T,HIGH,,,,1;ZNF546,intron_variant,,ENST00000596894,,c.77-1303C>T,MODIFIER,,,,1;ZNF546,downstream_gene_variant,,ENST00000599504,,,MODIFIER,,,,1;ZNF546,downstream_gene_variant,,ENST00000601138,,,MODIFIER,,,,1	T	ENST00000347077	Transcript	stop_gained	stop_gained	2071/7987	1855/2511	619/836	R/*	Cga/Tga	rs765037445	1		1	ZNF546	HGNC	HGNC:28671	protein_coding	YES	CCDS12548.1	ENSP00000339823	Q86UE3		UPI00001984E3	NM_178544.3;NM_001297763.1			7/7		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	HIGH	1	SNV	1			1	2.471e-05	2.478e-05	0	0	0.0001158	0	1.501e-05	0	6.066e-05		PASS	CCTTTCGATTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	4	4	80	40015125	40015125	C	T	1	0	0	0	0	0	1	0	0	18552	876	31	2		2	ZNF546	19	40015125	Nonsense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	700684	40015125	18602491	439	1612											
SPTBN4	57731	BI	GRCh38	chr19	40502458	40502458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaactgcgtgcctgcaaccGtcgcctctttgtgcctcggg	11	15	1	0	rs748767389	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1154G>A	p.Arg385His	p.R385H	ENST00000352632	10/36	70	58	12	93			SPTBN4,missense_variant,p.R385H,ENST00000338932,,c.1154G>A,MODERATE,,deleterious(0.01),probably_damaging(0.974),1;SPTBN4,missense_variant,p.R385H,ENST00000352632,,c.1154G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.761),1;SPTBN4,missense_variant,p.R385H,ENST00000392025,,c.1154G>A,MODERATE,,deleterious(0.01),probably_damaging(0.974),1;SPTBN4,missense_variant,p.R385H,ENST00000598249,NM_020971.2,c.1154G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.761),1;SPTBN4,missense_variant,p.R385H,ENST00000595535,,c.1154G>A,MODERATE,,deleterious(0.04),possibly_damaging(0.784),1;SPTBN4,non_coding_transcript_exon_variant,,ENST00000598775,,n.546G>A,MODIFIER,,,,1	A	ENST00000352632	Transcript	missense_variant	missense_variant	1240/8676	1154/7695	385/2564	R/H	cGt/cAt	rs748767389	1		1	SPTBN4	HGNC	HGNC:14896	protein_coding	YES	CCDS12559.1	ENSP00000263373	Q9H254		UPI0000135DBB		deleterious(0.01)	possibly_damaging(0.761)	10/36		Pfam_domain:PF00435;Superfamily_domains:SSF46966;PIRSF_domain:PIRSF002297																	MODERATE	1	SNV	5			1	6.589e-05	6.664e-05	0	0	0.0005792	0	4.555e-05	0	0		PASS	CAACCGTCGCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM4581049;COSM4581050	True	Unknown	A	3	1	80	40502458	40502458	G	A	1	0	0	0	0	1	0	0	0	15477	1145	40	1		1	SPTBN4	19	40502458	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	487333	40502458	18115158	440	1613											
LTBP4	8425	BI	GRCh38	chr19	40623949	40623949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctagacaatgacgagtgCgccgatgaggaaccggcctg	13	12	0	3	rs778594212		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3900C>T	p.=	p.C1300C	ENST00000308370	29/33	26	18	8	47			LTBP4,synonymous_variant,p.C1263C,ENST00000204005,NM_003573.2,c.3789C>T,LOW,,,,1;LTBP4,synonymous_variant,p.C1300C,ENST00000308370,NM_001042544.1,c.3900C>T,LOW,YES,,,1;LTBP4,synonymous_variant,p.C1233C,ENST00000396819,NM_001042545.1,c.3699C>T,LOW,,,,1;LTBP4,synonymous_variant,p.C633C,ENST00000243562,,c.1898C>T,LOW,,,,1;LTBP4,synonymous_variant,p.C446C,ENST00000601032,,c.1336C>T,LOW,,,,1;LTBP4,synonymous_variant,p.C209C,ENST00000599724,,c.627C>T,LOW,,,,1;LTBP4,synonymous_variant,p.C176C,ENST00000622457,,c.527C>T,LOW,,,,1;LTBP4,downstream_gene_variant,,ENST00000612121,,,MODIFIER,,,,1;LTBP4,upstream_gene_variant,,ENST00000598166,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000597071,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000593463,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000618486,,,MODIFIER,,,,1;LTBP4,upstream_gene_variant,,ENST00000599225,,,MODIFIER,,,,1;LTBP4,non_coding_transcript_exon_variant,,ENST00000595118,,n.1204C>T,MODIFIER,,,,1;LTBP4,non_coding_transcript_exon_variant,,ENST00000318809,,n.626C>T,MODIFIER,,,,1;LTBP4,non_coding_transcript_exon_variant,,ENST00000597816,,n.595C>T,MODIFIER,,,,1;LTBP4,non_coding_transcript_exon_variant,,ENST00000597151,,n.44C>T,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000622565,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000622107,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000600499,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000610893,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000595665,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000594448,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000612845,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000596351,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000598178,,,MODIFIER,,,,1;LTBP4,downstream_gene_variant,,ENST00000594116,,,MODIFIER,,,,1	T	ENST00000308370	Transcript	synonymous_variant	synonymous_variant	3900/4948	3900/4875	1300/1624	C	tgC/tgT	rs778594212	1		1	LTBP4	HGNC	HGNC:6717	protein_coding	YES	CCDS74369.1	ENSP00000311905	Q8N2S1		UPI0000DACAC4	NM_001042544.1			29/33		Pfam_domain:PF07645;PROSITE_profiles:PS50026;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196																	LOW	1	SNV	1			1	8.268e-06	8.563e-06	0	0	0	0	1.538e-05	0	0		PASS	GAGTGCGCCGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	40623949	40623949	C	T	1	0	0	0	0	0	0	0	1	8982	776	27	2		2	LTBP4	19	40623949	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	121491	40623949	17993667	441	1614											
CYP2A13	1553	BI	GRCh38	chr19	41088938	41088938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaacagatcagtgagCgctatggccctgtgttcacc	10	14	2	2	rs72547586	byCluster;byFrequency;suspect	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.190C>T	p.Arg64Cys	p.R64C	ENST00000330436	2/9	60	54	6	59			CYP2A13,missense_variant,p.R64C,ENST00000330436,NM_000766.4,c.190C>T,MODERATE,YES,tolerated(0.06),benign(0.017),1	T	ENST00000330436	Transcript	missense_variant	missense_variant	190/1739	190/1485	64/494	R/C	Cgc/Tgc	rs72547586	1		1	CYP2A13	HGNC	HGNC:2608	protein_coding	YES	CCDS12571.1	ENSP00000332679	Q16696		UPI000013E07A	NM_000766.4	tolerated(0.06)	benign(0.017)	2/9		Pfam_domain:PF00067;Prints_domain:PR00463;Prints_domain:PR00465;Superfamily_domains:SSF48264																	MODERATE	1	SNV	1			1	3.295e-05	3.298e-05	0	0	0.0001156	0.0001512	3.001e-05	0	0		panel_of_normals	GTGAGCGCTAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	3	4	80	41088938	41088938	C	T	1	0	0	0	0	1	0	0	0	3964	768	27	2		2	CYP2A13	19	41088938	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	464989	41088938	17528678	442	1615											
GPR4	2828	BI	GRCh38	chr19	45591824	45591824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcggaaagaggtggtccaCgcgcgagtccacgtggcagc	17	11	0	1	rs763872953	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.43G>A	p.Val15Met	p.V15M	ENST00000323040	2/2	33	26	7	65			GPR4,missense_variant,p.V15M,ENST00000323040,NM_005282.2,c.43G>A,MODERATE,YES,deleterious(0.03),benign(0.003),-1;OPA3,intron_variant,,ENST00000544371,,c.-18+10271G>A,MODIFIER,,,,-1;GPR4,downstream_gene_variant,,ENST00000591614,,,MODIFIER,,,,-1	T	ENST00000323040	Transcript	missense_variant	missense_variant	988/3048	43/1089	15/362	V/M	Gtg/Atg	rs763872953	1		-1	GPR4	HGNC	HGNC:4497	protein_coding	YES	CCDS12669.1	ENSP00000319744	P46093		UPI0000050428	NM_005282.2	deleterious(0.03)	benign(0.003)	2/2		Prints_domain:PR01147;Superfamily_domains:SSF81321																	MODERATE	1	SNV	1			1	6.594e-05	7.129e-05	0	8.746e-05	0.0007074	0	1.586e-05	0	0		PASS	GTCCACGCGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM3104377	True	Unknown	T	3	4	80	45591824	45591824	C	T	1	0	0	0	0	1	0	0	0	6579	536	19	1		1	GPR4	19	45591824	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4502886	45591824	13025792	443	1616											
FBXO46	23403	BI	GRCh38	chr19	45712819	45712819	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccacggcctcggctacaCggctgcagtccccaccaccg	12	19	0	0	rs764409127	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.677G>A	p.Arg226His	p.R226H	ENST00000317683	2/2	38	33	5	23			FBXO46,missense_variant,p.R226H,ENST00000317683,NM_001080469.1,c.677G>A,MODERATE,YES,deleterious(0),probably_damaging(0.984),-1;FBXO46,downstream_gene_variant,,ENST00000586899,,,MODIFIER,,,,-1;FBXO46,downstream_gene_variant,,ENST00000591686,,,MODIFIER,,,,-1;AC007191.4,downstream_gene_variant,,ENST00000623179,,,MODIFIER,YES,,,-1	T	ENST00000317683	Transcript	missense_variant	missense_variant	811/3001	677/1812	226/603	R/H	cGt/cAt	rs764409127	1		-1	FBXO46	HGNC	HGNC:25069	protein_coding	YES	CCDS46116.1	ENSP00000410007	Q6PJ61		UPI00002026A5	NM_001080469.1	deleterious(0)	probably_damaging(0.984)	2/2																			MODERATE	1	SNV	2			1	2.484e-05	2.627e-05	0	0	0	0	4.782e-05	0	0		PASS	CTACACGGCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	45712819	45712819	C	T	1	0	0	0	0	1	0	0	0	5618	536	19	1		1	FBXO46	19	45712819	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	120995	45712819	12904797	444	1617											
CCDC8	83987	BI	GRCh38	chr19	46412095	46412095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggctggtgccctctggcGccgatgatacccctgcgctc	13	17	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.716C>T	p.Ala239Val	p.A239V	ENST00000307522	1/1	54	33	21	53			CCDC8,missense_variant,p.A239V,ENST00000307522,NM_032040.4,c.716C>T,MODERATE,YES,,benign(0.005),-1	A	ENST00000307522	Transcript	missense_variant	missense_variant	1490/3213	716/1617	239/538	A/V	gCg/gTg		1		-1	CCDC8	HGNC	HGNC:25367	protein_coding	YES	CCDS12685.1	ENSP00000303158	Q9H0W5		UPI00000730F2	NM_032040.4		benign(0.005)	1/1																			MODERATE	1	SNV				1											PASS	CTGGCGCCGAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	46412095	46412095	G	A	1	0	0	0	0	1	0	0	0	2551	1087	38	2		2	CCDC8	19	46412095	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	699276	46412095	12205521	445	1618											
GLTSCR1	29998	BI	GRCh38	chr19	47701336	47701336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgattctgcagacgagtacGtgtcttcctcccgctcgctc	9	16	2	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3604G>A	p.Val1202Met	p.V1202M	ENST00000396720	15/15	9	5	4	22			GLTSCR1,missense_variant,p.V1202M,ENST00000396720,NM_015711.3,c.3604G>A,MODERATE,YES,,probably_damaging(0.912),1;GLTSCR1,missense_variant,p.V1150M,ENST00000614245,,c.3448G>A,MODERATE,,,possibly_damaging(0.887),1;CTD-2571L23.8,intron_variant,,ENST00000599924,,n.87-30729G>A,MODIFIER,YES,,,1;GLTSCR1,non_coding_transcript_exon_variant,,ENST00000602258,,n.1372G>A,MODIFIER,,,,1	A	ENST00000396720	Transcript	missense_variant	missense_variant	3798/5739	3604/4683	1202/1560	V/M	Gtg/Atg		1		1	GLTSCR1	HGNC	HGNC:4332	protein_coding	YES	CCDS46134.1	ENSP00000379946	Q9NZM4		UPI00016278EE	NM_015711.3		probably_damaging(0.912)	15/15																			MODERATE	1	SNV	5			1											PASS	AGTACGTGTCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4687290	True	Unknown	A	3	1	80	47701336	47701336	G	A	1	0	0	0	0	1	0	0	0	6350	1145	40	1		1	GLTSCR1	19	47701336	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1289241	47701336	10916280	446	1619											
MED25	81857	BI	GRCh38	chr19	49830789	49830789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccccaggaccccctggcGcccccaagccaccacctgct	7	23	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1003G>A	p.Ala335Thr	p.A335T	ENST00000312865	9/18	29	23	6	29			MED25,missense_variant,p.A335T,ENST00000312865,NM_030973.3,c.1003G>A,MODERATE,YES,tolerated(0.26),benign(0.042),1;MED25,missense_variant,p.A122T,ENST00000538643,,c.364G>A,MODERATE,,tolerated_low_confidence(0.21),possibly_damaging(0.898),1;MED25,missense_variant,p.A70T,ENST00000617849,,c.208G>A,MODERATE,,tolerated_low_confidence(0.16),unknown(0),1;MED25,missense_variant,p.A70T,ENST00000618715,,c.208G>A,MODERATE,,tolerated_low_confidence(0.16),unknown(0),1;MED25,intron_variant,,ENST00000620467,,c.972+31G>A,MODIFIER,,,,1;MED25,intron_variant,,ENST00000612791,,c.761+627G>A,MODIFIER,,,,1;MED25,intron_variant,,ENST00000612854,,c.450+1774G>A,MODIFIER,,,,1;MED25,intron_variant,,ENST00000595185,,c.688+841G>A,MODIFIER,,,,1;MED25,intron_variant,,ENST00000622402,,c.146-5038G>A,MODIFIER,,,,1;MED25,upstream_gene_variant,,ENST00000622046,,,MODIFIER,,,,1;MED25,upstream_gene_variant,,ENST00000593767,,,MODIFIER,,,,1;MIR6800,upstream_gene_variant,,ENST00000614963,,,MODIFIER,YES,,,1;MED25,upstream_gene_variant,,ENST00000594998,,,MODIFIER,,,,1;MED25,upstream_gene_variant,,ENST00000599722,,,MODIFIER,,,,1	A	ENST00000312865	Transcript	missense_variant	missense_variant	1056/2332	1003/2244	335/747	A/T	Gcc/Acc		1		1	MED25	HGNC	HGNC:28845	protein_coding	YES	CCDS33075.1	ENSP00000326767	Q71SY5		UPI00002029A3	NM_030973.3	tolerated(0.26)	benign(0.042)	9/18		Low_complexity_(Seg):Seg;Pfam_domain:PF11235;PROSITE_profiles:PS50099																	MODERATE	1	SNV	1			1											PASS	CTGGCGCCCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4080213;COSM4080214	True	Unknown	A	3	1	80	49830789	49830789	G	A	1	0	0	0	0	1	0	0	0	9382	1087	38	2		2	MED25	19	49830789	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2129453	49830789	8786827	447	1620											
POLD1	5424	BI	GRCh38	chr19	50413825	50413825	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccctggggcgggaggcCgcggactgggtgtcaggtca	20	10	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2334C>T	p.=	p.A778A	ENST00000440232	19/27	43	33	10	61			POLD1,synonymous_variant,p.A804A,ENST00000613923,,c.2412C>T,LOW,,,,1;POLD1,synonymous_variant,p.A778A,ENST00000440232,NM_001256849.1&NM_002691.3,c.2334C>T,LOW,YES,,,1;POLD1,synonymous_variant,p.A778A,ENST00000599857,,c.2334C>T,LOW,,,,1;POLD1,synonymous_variant,p.A804A,ENST00000595904,,c.2412C>T,LOW,,,,1;POLD1,synonymous_variant,p.A35A,ENST00000593407,,c.103C>T,LOW,,,,1;CTD-2545M3.6,upstream_gene_variant,,ENST00000599632,,,MODIFIER,YES,,,1;POLD1,upstream_gene_variant,,ENST00000593981,,,MODIFIER,,,,1;POLD1,downstream_gene_variant,,ENST00000596425,,,MODIFIER,,,,1;POLD1,synonymous_variant,p.A778A,ENST00000600859,,c.2334C>T,LOW,,,,1;POLD1,upstream_gene_variant,,ENST00000596648,,,MODIFIER,,,,1;POLD1,upstream_gene_variant,,ENST00000597963,,,MODIFIER,,,,1;POLD1,upstream_gene_variant,,ENST00000596221,,,MODIFIER,,,,1	T	ENST00000440232	Transcript	synonymous_variant	synonymous_variant	2387/3444	2334/3324	778/1107	A	gcC/gcT		1		1	POLD1	HGNC	HGNC:9175	protein_coding	YES	CCDS12795.1	ENSP00000406046	P28340	A0A024R4F4	UPI000007288E	NM_001256849.1;NM_002691.3			19/27		Pfam_domain:PF00136;TIGRFAM_domain:TIGR00592;Superfamily_domains:SSF56672																	LOW	1	SNV	1			1											PASS	GAGGCCGCGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	50413825	50413825	C	T	1	0	0	0	0	0	0	0	1	12300	639	23	2		2	POLD1	19	50413825	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	583036	50413825	8203791	448	1621											
MYBPC2	4606	BI	GRCh38	chr19	50455596	50455596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcctccgaacaggatcGgggcaggtggcatcgatggg	19	9	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2290G>A	p.Gly764Arg	p.G764R	ENST00000357701	20/28	64	47	17	102			MYBPC2,missense_variant,p.G764R,ENST00000357701,NM_004533.3,c.2290G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1	A	ENST00000357701	Transcript	missense_variant	missense_variant	2341/3593	2290/3426	764/1141	G/R	Ggg/Agg		1		1	MYBPC2	HGNC	HGNC:7550	protein_coding	YES	CCDS46152.1	ENSP00000350332	Q14324			NM_004533.3	deleterious(0)	probably_damaging(1)	20/28		Pfam_domain:PF00041;PROSITE_profiles:PS50853;SMART_domains:SM00060;Superfamily_domains:SSF49265																	MODERATE	1	SNV	1			1											PASS	GGATCGGGGCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM999734	True	Unknown	A	3	1	80	50455596	50455596	G	A	1	0	0	0	0	1	0	0	0	10012	1116	39	2		2	MYBPC2	19	50455596	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	41771	50455596	8162020	449	1622											
KIR2DL1	3802	BI	GRCh38	chr19	54773528	54773528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaacttctccatcagtcGcatgacgcaagacctggcag	10	14	2	2	rs543746914	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.266G>A	p.Arg89His	p.R89H	ENST00000336077	3/8	176	140	36	248			KIR2DL1,missense_variant,p.R89H,ENST00000336077,NM_014218.2,c.266G>A,MODERATE,YES,deleterious(0),benign(0.385),1;KIR2DL1,missense_variant,p.R89H,ENST00000291633,,c.266G>A,MODERATE,,deleterious(0),benign(0.001),1;KIR3DL1,intron_variant,,ENST00000541392,,c.35-44006G>A,MODIFIER,,,,1;CTB-61M7.1,intron_variant,,ENST00000400864,,n.71+2644G>A,MODIFIER,YES,,,1	A	ENST00000336077	Transcript	missense_variant	missense_variant	306/1596	266/1047	89/348	R/H	cGc/cAc	rs543746914	1		1	KIR2DL1	HGNC	HGNC:6329	protein_coding	YES	CCDS12904.1	ENSP00000336769		Q6H2H3		NM_014218.2	deleterious(0)	benign(0.385)	3/8		Pfam_domain:PF00047;SMART_domains:SM00409;Superfamily_domains:SSF48726	2e-04	0	0		0.001	0	0										MODERATE	1	SNV	1			1	8.375e-05	8.484e-05	0	0	0.0009341	0	3.097e-05	0	0		panel_of_normals	CAGTCGCATGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon	COSM245304	True	Unknown	A	3	1	80	54773528	54773528	G	A	1	0	0	0	0	1	0	0	0	8181	1087	38	2		2	KIR2DL1	19	54773528	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	4317932	54773528	3844088	450	1623											
KIR2DL4	3805	BI	GRCh38	chr19	54804819	54804819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacaagcccttctgctctGcctggcccagcgctgtggtg	13	14	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.103G>A	p.Ala35Thr	p.A35T	ENST00000345540	3/7	72	65	7	119			KIR2DL4,missense_variant,p.A74T,ENST00000396284,,c.220G>A,MODERATE,,deleterious(0),probably_damaging(0.983),1;KIR2DL4,missense_variant,p.A34T,ENST00000396289,NM_002255.5,c.98G>A,MODERATE,,deleterious(0),probably_damaging(0.999),1;KIR2DL4,missense_variant,p.A35T,ENST00000359085,NM_001080772.1,c.103G>A,MODERATE,,deleterious(0),probably_damaging(0.997),1;KIR2DL4,missense_variant,p.A35T,ENST00000345540,NM_001080770.1,c.103G>A,MODERATE,YES,deleterious(0),probably_damaging(0.981),1;KIR2DL4,missense_variant,p.A35T,ENST00000357494,,c.103G>A,MODERATE,,deleterious(0.02),probably_damaging(0.967),1;KIR3DL1,intron_variant,,ENST00000538269,,c.35-12715G>A,MODIFIER,,,,1;KIR3DL1,intron_variant,,ENST00000541392,,c.35-12715G>A,MODIFIER,,,,1;KIR2DL4,intron_variant,,ENST00000346587,,c.76+893G>A,MODIFIER,,,,1;KIR2DL4,intron_variant,,ENST00000396293,,c.76+893G>A,MODIFIER,,,,1;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000463062,,n.115G>A,MODIFIER,,,,1;KIR2DL4,non_coding_transcript_exon_variant,,ENST00000486965,,n.115G>A,MODIFIER,,,,1	A	ENST00000345540	Transcript	missense_variant	missense_variant	115/1447	103/1029	35/342	A/T	Gcc/Acc		1		1	KIR2DL4	HGNC	HGNC:6332	protein_coding	YES	CCDS42619.1	ENSP00000339634	Q99706		UPI000013E082	NM_001080770.1	deleterious(0)	probably_damaging(0.981)	3/7		Superfamily_domains:SSF48726																	MODERATE	1	SNV	1			1											PASS	GCTCTGCCTGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	54804819	54804819	G	A	1	0	0	0	0	1	0	0	0	8183	1319	46	3		3	KIR2DL4	19	54804819	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	31291	54804819	3812797	451	1624											
NLRP4	147945	BI	GRCh38	chr19	55858128	55858128	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttgaacgaacccgattcGgatctgtgtggtgacttgat	13	8	1	3	rs545483573	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.735G>A	p.=	p.S245S	ENST00000301295	3/10	67	35	32	99			NLRP4,synonymous_variant,p.S245S,ENST00000301295,NM_134444.4,c.735G>A,LOW,YES,,,1;NLRP4,synonymous_variant,p.S170S,ENST00000587891,,c.510G>A,LOW,,,,1;NLRP4,upstream_gene_variant,,ENST00000589437,,,MODIFIER,,,,1;NLRP4,downstream_gene_variant,,ENST00000587464,,,MODIFIER,,,,1	A	ENST00000301295	Transcript	synonymous_variant	synonymous_variant	1157/3670	735/2985	245/994	S	tcG/tcA	rs545483573	1		1	NLRP4	HGNC	HGNC:22943	protein_coding	YES	CCDS12936.1	ENSP00000301295	Q96MN2		UPI000013E6FD	NM_134444.4			3/10		Pfam_domain:PF05729;PROSITE_profiles:PS50837;Superfamily_domains:SSF52540	2e-04	0	0		0	0	0.001										LOW	1	SNV	1			1	4.942e-05	4.943e-05	9.617e-05	0.0001727	0	0	0	0	0.0001817		PASS	GATTCGGATCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	55858128	55858128	G	A	1	0	0	0	0	0	0	0	1	10517	1103	39	2		2	NLRP4	19	55858128	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1053309	55858128	2759488	452	1625											
ZSCAN1	284312	BI	GRCh38	chr19	58038101	58038101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggagcagttcctgggcGcgctgcccagcaagatgcgg	16	12	0	1	rs148253808	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.265G>A	p.Ala89Thr	p.A89T	ENST00000282326	3/6	21	12	9	23			ZSCAN1,missense_variant,p.A89T,ENST00000282326,NM_182572.3,c.265G>A,MODERATE,YES,deleterious(0.02),benign(0.22),1;ZSCAN1,missense_variant,p.A89T,ENST00000391700,,c.265G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.593),1;ZSCAN1,missense_variant,p.A89T,ENST00000601162,,c.265G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.593),1	A	ENST00000282326	Transcript	missense_variant	missense_variant	512/2054	265/1227	89/408	A/T	Gcg/Acg	rs148253808	1		1	ZSCAN1	HGNC	HGNC:23712	protein_coding	YES	CCDS12969.1	ENSP00000282326	Q8NBB4		UPI000013DCD2	NM_182572.3	deleterious(0.02)	benign(0.22)	3/6		Pfam_domain:PF02023;PROSITE_profiles:PS50804;SMART_domains:SM00431;Superfamily_domains:SSF47353	2e-04	0	0		0	0	0.001	2e-04	0								MODERATE	1	SNV	2			1	3.306e-05	3.659e-05	0.0001187	9.256e-05	0	0	0	0	0.0001261		PASS	TGGGCGCGCTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM242447;COSM3938345	True	Unknown	A	3	1	80	58038101	58038101	G	A	1	0	0	0	0	1	0	0	0	18820	1087	38	2		2	ZSCAN1	19	58038101	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2179973	58038101	579515	453	1626											
ZNF324	25799	BI	GRCh38	chr19	58471742	58471742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgctctttaagcaccagcGcgtgcacacaggcgagaagc	11	14	1	1			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1250G>A	p.Arg417His	p.R417H	ENST00000196482	4/4	58	32	26	45			ZNF324,missense_variant,p.R417H,ENST00000536459,,c.1250G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;ZNF324,missense_variant,p.R417H,ENST00000196482,NM_014347.2,c.1250G>A,MODERATE,,deleterious(0),probably_damaging(1),1;ZNF324,missense_variant,p.R276H,ENST00000593925,,c.825G>A,MODERATE,,deleterious(0),probably_damaging(0.996),1;ZNF446,upstream_gene_variant,,ENST00000596341,,,MODIFIER,,,,1;ZNF446,upstream_gene_variant,,ENST00000594369,NM_017908.2,,MODIFIER,YES,,,1;ZNF446,upstream_gene_variant,,ENST00000335841,,,MODIFIER,,,,1;ZNF446,upstream_gene_variant,,ENST00000622313,,,MODIFIER,,,,1;ZNF446,upstream_gene_variant,,ENST00000610298,,,MODIFIER,,,,1;ZNF324,downstream_gene_variant,,ENST00000535298,,,MODIFIER,,,,1;ZNF446,upstream_gene_variant,,ENST00000600013,,,MODIFIER,,,,1;CTD-2619J13.23,downstream_gene_variant,,ENST00000598051,,,MODIFIER,YES,,,-1;ZNF446,upstream_gene_variant,,ENST00000391694,,,MODIFIER,,,,1;ZNF446,upstream_gene_variant,,ENST00000594468,,,MODIFIER,,,,1	A	ENST00000196482	Transcript	missense_variant	missense_variant	1344/3000	1250/1662	417/553	R/H	cGc/cAc		1		1	ZNF324	HGNC	HGNC:14096	protein_coding		CCDS12981.1	ENSP00000196482	O75467	A0A024R4R8	UPI000013C359	NM_014347.2	deleterious(0)	probably_damaging(1)	4/4		PROSITE_profiles:PS50157;SMART_domains:SM00355;Superfamily_domains:SSF57667																	MODERATE		SNV	1			1											PASS	CCAGCGCGTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4082430	True	Unknown	A	3	1	80	58471742	58471742	G	A	1	0	0	0	0	1	0	0	0	18416	1087	38	2		2	ZNF324	19	58471742	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	433641	58471742	145874	454	1627											
ANGPT4	51378	BI	GRCh38	chr20	879782	879782	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagttccgctgaaaattcaCggtgccattctcacggcgct	9	14	2	1	rs746445808	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1018G>A	p.Val340Met	p.V340M	ENST00000381922	6/9	40	33	7	61			ANGPT4,missense_variant,p.V340M,ENST00000381922,NM_015985.2,c.1018G>A,MODERATE,YES,deleterious(0.04),benign(0.301),-1	T	ENST00000381922	Transcript	missense_variant	missense_variant	1121/4676	1018/1512	340/503	V/M	Gtg/Atg	rs746445808	1		-1	ANGPT4	HGNC	HGNC:487	protein_coding	YES	CCDS13009.1	ENSP00000371347	Q9Y264			NM_015985.2	deleterious(0.04)	benign(0.301)	6/9		Pfam_domain:PF00147;SMART_domains:SM00186;Superfamily_domains:SSF56496																	MODERATE	1	SNV	1			1	2.471e-05	2.482e-05	0	0	0	0	0	0	0.0001824		PASS	ATTCACGGTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1495118	True	Unknown	T	3	4	80	879782	879782	C	T	1	0	0	0	0	1	0	0	0	710	536	19	1		1	ANGPT4	20	879782	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		879782	63564385	455	1628											
PSMF1	9491	BI	GRCh38	chr20	1163158	1163158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggcccgtttgttgtcGggggagaagacttagaccct	14	11	0	3	rs762622706	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.580G>A	p.Gly194Arg	p.G194R	ENST00000333082	6/8	27	12	15	50			PSMF1,missense_variant,p.G194R,ENST00000335877,NM_006814.3,c.580G>A,MODERATE,YES,deleterious(0),probably_damaging(0.991),1;PSMF1,missense_variant,p.G194R,ENST00000333082,NM_178578.2,c.580G>A,MODERATE,,deleterious(0),probably_damaging(0.991),1;PSMF1,missense_variant,p.G194R,ENST00000246015,,c.580G>A,MODERATE,,deleterious(0),probably_damaging(0.993),1;PSMF1,missense_variant,p.G20R,ENST00000381898,,c.58G>A,MODERATE,,tolerated_low_confidence(0.05),benign(0.286),1;PSMF1,intron_variant,,ENST00000435720,,c.130-1160G>A,MODIFIER,,,,1;PSMF1,non_coding_transcript_exon_variant,,ENST00000484891,,n.496G>A,MODIFIER,,,,1;PSMF1,non_coding_transcript_exon_variant,,ENST00000479715,,n.555G>A,MODIFIER,,,,1;PSMF1,upstream_gene_variant,,ENST00000418246,,,MODIFIER,,,,1;ACTG1P3,downstream_gene_variant,,ENST00000431775,,,MODIFIER,YES,,,1	A	ENST00000333082	Transcript	missense_variant	missense_variant	748/3686	580/816	194/271	G/R	Ggg/Agg	rs762622706	1		1	PSMF1	HGNC	HGNC:9571	protein_coding		CCDS13010.1	ENSP00000327704	Q92530		UPI000013CBCB	NM_178578.2	deleterious(0)	probably_damaging(0.991)	6/8		Pfam_domain:PF08577;PROSITE_profiles:PS50099																	MODERATE		SNV	1			1	1.647e-05	1.663e-05	0	0	0	0	1.508e-05	0	6.099e-05		PASS	TTGTCGGGGGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	1163158	1163158	G	A	1	0	0	0	0	1	0	0	0	12861	1116	39	2		2	PSMF1	20	1163158	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	283376	1163158	63281009	456	1629											
RP5-1187M17.10	9762	BI	GRCh38	chr20	3164549	3164549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgcttgcaccccctgCggccccgcgctcccgcagcc	13	21	0	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1789G>A	p.Ala597Thr	p.A597T	ENST00000360342	6/6	46	25	21	55			LZTS3,missense_variant,p.A643T,ENST00000329152,,c.1927G>A,MODERATE,,tolerated(0.9),benign(0.144),-1;LZTS3,missense_variant,p.A643T,ENST00000337576,,c.1927G>A,MODERATE,,tolerated(0.9),benign(0.144),-1;LZTS3,missense_variant,p.A597T,ENST00000360342,NM_001282533.1,c.1789G>A,MODERATE,YES,tolerated(0.91),benign(0.147),-1;UBOX5,upstream_gene_variant,,ENST00000217173,NM_014948.3&NM_001267584.1,,MODIFIER,YES,,,-1;UBOX5,upstream_gene_variant,,ENST00000348031,NM_199415.2,,MODIFIER,,,,-1;FASTKD5,upstream_gene_variant,,ENST00000380266,NM_021826.4,,MODIFIER,YES,,,-1;UBOX5,upstream_gene_variant,,ENST00000449731,,,MODIFIER,,,,-1	T	ENST00000360342	Transcript	missense_variant	missense_variant	2123/4055	1789/1884	597/627	A/T	Gca/Aca		1		-1	LZTS3	Uniprot_gn		protein_coding	YES	CCDS63218.1	ENSP00000353496			UPI00001AE5C6	NM_001282533.1	tolerated(0.91)	benign(0.147)	6/6		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1											PASS	CCCTGCGGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	3164549	3164549	C	T	1	0	0	0	0	1	0	0	0	13781	768	27	2		2	RP5-1187M17.10	20	3164549	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2001391	3164549	61279618	457	1630											
LRRN4	164312	BI	GRCh38	chr20	6041180	6041180	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaggccgctggcggCgcacagcccagagagcagga	16	13	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2065G>A	p.Ala689Thr	p.A689T	ENST00000378858	5/5	4	0	4	13			LRRN4,missense_variant,p.A689T,ENST00000378858,NM_152611.4,c.2065G>A,MODERATE,YES,tolerated(0.32),benign(0.029),-1;CRLS1,downstream_gene_variant,,ENST00000378863,NM_019095.4,,MODIFIER,YES,,,1;CRLS1,downstream_gene_variant,,ENST00000452938,,,MODIFIER,,,,1;CRLS1,downstream_gene_variant,,ENST00000378868,NM_001127458.1,,MODIFIER,,,,1;CRLS1,downstream_gene_variant,,ENST00000478846,,,MODIFIER,,,,1	T	ENST00000378858	Transcript	missense_variant	missense_variant	2290/2692	2065/2223	689/740	A/T	Gcc/Acc		1		-1	LRRN4	HGNC	HGNC:16208	protein_coding	YES	CCDS13097.1	ENSP00000368135	Q8WUT4		UPI000013CBD3	NM_152611.4	tolerated(0.32)	benign(0.029)	5/5		Low_complexity_(Seg):Seg;Transmembrane_helices:Tmhmm																	MODERATE	1	SNV	1			1											PASS	GGCGGCGCACA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			False	Unknown	T	3	4	80	6041180	6041180	C	T	1	0	0	0	0	1	0	0	0	8943	768	27	2		2	LRRN4	20	6041180	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2876631	6041180	58402987	458	1631											
PLCB4	5332	BI	GRCh38	chr20	9409106	9409106	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccaagggaggccgagtcGattccagtaattacatgcct	10	12	0	0			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1888G>A	p.Asp630Asn	p.D630N	ENST00000278655	21/36	76	62	14	63			PLCB4,missense_variant,p.D630N,ENST00000378501,NM_000933.3,c.1888G>A,MODERATE,YES,deleterious(0.05),probably_damaging(0.931),1;PLCB4,missense_variant,p.D630N,ENST00000378493,,c.1888G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.734),1;PLCB4,missense_variant,p.D642N,ENST00000378473,NM_001172646.1,c.1924G>A,MODERATE,,tolerated(0.05),probably_damaging(0.945),1;PLCB4,missense_variant,p.D630N,ENST00000278655,NM_182797.2,c.1888G>A,MODERATE,,tolerated(0.05),possibly_damaging(0.734),1;PLCB4,missense_variant,p.D642N,ENST00000414679,,c.1924G>A,MODERATE,,tolerated(0.05),probably_damaging(0.945),1;PLCB4,non_coding_transcript_exon_variant,,ENST00000492632,,n.1903G>A,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000464199,,n.1665G>A,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000482123,,n.1615G>A,MODIFIER,,,,1;PLCB4,non_coding_transcript_exon_variant,,ENST00000473151,,n.1579G>A,MODIFIER,,,,1	A	ENST00000278655	Transcript	missense_variant	missense_variant	1966/5430	1888/3528	630/1175	D/N	Gat/Aat		1		1	PLCB4	HGNC	HGNC:9059	protein_coding		CCDS13105.1	ENSP00000278655	Q15147		UPI0000131A94	NM_182797.2	tolerated(0.05)	possibly_damaging(0.734)	21/36		Pfam_domain:PF00387;Prints_domain:PR00390;PROSITE_profiles:PS50008;SMART_domains:SM00149;Superfamily_domains:SSF51695;PIRSF_domain:PIRSF000956																	MODERATE		SNV	1			1											PASS	GAGTCGATTCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1681538;COSM4294769	True	Unknown	A	3	1	80	9409106	9409106	G	A	1	0	0	0	0	1	0	0	0	12124	1058	37	2		2	PLCB4	20	9409106	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3367926	9409106	55035061	459	1632											
CFAP61	26074	BI	GRCh38	chr20	20196635	20196635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacttcagtcaccaccagcgCgaagaacacgggcacatgca	9	14	2	1	rs78795550	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1656C>T	p.=	p.R552R	ENST00000245957	16/27	47	33	14	75			CFAP61,synonymous_variant,p.R552R,ENST00000245957,NM_015585.3,c.1656C>T,LOW,YES,,,1;CFAP61,synonymous_variant,p.R92R,ENST00000431753,,c.275C>T,LOW,,,,1;CFAP61,non_coding_transcript_exon_variant,,ENST00000471716,,n.341C>T,MODIFIER,,,,1;CFAP61,upstream_gene_variant,,ENST00000476414,,,MODIFIER,,,,1;CFAP61,upstream_gene_variant,,ENST00000468719,,,MODIFIER,,,,1	T	ENST00000245957	Transcript	synonymous_variant	synonymous_variant	1732/4082	1656/3714	552/1237	R	cgC/cgT	rs78795550	1		1	CFAP61	HGNC	HGNC:15872	protein_coding	YES	CCDS33447.1	ENSP00000245957	Q8NHU2		UPI0000206AE4	NM_015585.3			16/27		Low_complexity_(Seg):Seg;Superfamily_domains:SSF55729	2e-04	0	0		0.001	0	0	2e-04	0								LOW	1	SNV	1			1	9.884e-05	9.884e-05	0.0005766	0.0002591	0.0002311	0	0	0	6.057e-05		PASS	CAGCGCGAAGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM5343551	True	Unknown	T	2	4	80	20196635	20196635	C	T	1	0	0	0	0	0	0	0	1	3028	755	27	2		2	CFAP61	20	20196635	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	10787529	20196635	44247532	460	1633											
CD93	22918	BI	GRCh38	chr20	23085065	23085065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccctctccaggaccGcccggctcatagccaaccca	8	21	2	0	rs772853677	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1128C>T	p.=	p.G376G	ENST00000246006	1/2	35	31	4	30			CD93,synonymous_variant,p.G376G,ENST00000246006,NM_012072.3,c.1128C>T,LOW,YES,,,-1	A	ENST00000246006	Transcript	synonymous_variant	synonymous_variant	1276/6708	1128/1959	376/652	G	ggC/ggT	rs772853677	1		-1	CD93	HGNC	HGNC:15855	protein_coding	YES	CCDS13149.1	ENSP00000246006	Q9NPY3		UPI00001273BC	NM_012072.3			1/2		Pfam_domain:PF07645;PROSITE_profiles:PS50311;PROSITE_profiles:PS50026;SMART_domains:SM00179;SMART_domains:SM00181;Superfamily_domains:SSF57196;PIRSF_domain:PIRSF001775																	LOW	1	SNV	1			1	8.237e-06	8.437e-06	0	0	0	0	0	0	6.553e-05		PASS	GGACCGCCCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3378999	True	Unknown	A	2	1	80	23085065	23085065	G	A	1	0	0	0	0	0	0	0	1	2751	1074	38	2		2	CD93	20	23085065	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2888430	23085065	41359102	461	1634											
FOXS1	2307	BI	GRCh38	chr20	31845344	31845344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgagtgacaggttgtggcGgatgctgttctgccagccgg	17	8	1	2	rs754846088		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.199C>T	p.Arg67Cys	p.R67C	ENST00000375978	1/1	41	37	4	87			FOXS1,missense_variant,p.R67C,ENST00000375978,NM_004118.3,c.199C>T,MODERATE,YES,deleterious(0),probably_damaging(0.998),-1;DUSP15,downstream_gene_variant,,ENST00000278979,,,MODIFIER,,,,-1;DUSP15,downstream_gene_variant,,ENST00000447647,,,MODIFIER,,,,-1	A	ENST00000375978	Transcript	missense_variant	missense_variant	276/1319	199/993	67/330	R/C	Cgc/Tgc	rs754846088	1		-1	FOXS1	HGNC	HGNC:3735	protein_coding	YES	CCDS13192.1	ENSP00000365145	O43638		UPI000003603C	NM_004118.3	deleterious(0)	probably_damaging(0.998)	1/1		Pfam_domain:PF00250;Prints_domain:PR00053;PROSITE_profiles:PS50039;SMART_domains:SM00339;Superfamily_domains:SSF46785																	MODERATE	1	SNV				1	8.236e-06	8.252e-06	0	0	0	0	1.502e-05	0	0		PASS	GTGGCGGATGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	31845344	31845344	G	A	1	0	0	0	0	1	0	0	0	5900	1116	39	2		2	FOXS1	20	31845344	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	8760279	31845344	32598823	462	1635											
SUN5	140732	BI	GRCh38	chr20	32983867	32983867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagccatgcactcgcacgCggtacaggcaagtgaagcct	12	13	0	2	rs766701001		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1067G>A	p.Arg356His	p.R356H	ENST00000356173	13/13	82	71	11	149			SUN5,missense_variant,p.R356H,ENST00000356173,NM_080675.3,c.1067G>A,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SUN5,missense_variant,p.R331H,ENST00000375523,,c.992G>A,MODERATE,,deleterious(0),probably_damaging(1),-1	T	ENST00000356173	Transcript	missense_variant	missense_variant	1160/1254	1067/1140	356/379	R/H	cGc/cAc	rs766701001	1		-1	SUN5	HGNC	HGNC:16252	protein_coding	YES	CCDS13209.1	ENSP00000348496	Q8TC36		UPI0000135D7C	NM_080675.3	deleterious(0)	probably_damaging(1)	13/13		Pfam_domain:PF07738;Superfamily_domains:SSF49785																	MODERATE	1	SNV	1			1	8.237e-06	8.313e-06	0	0	0	0	1.505e-05	0	0		PASS	GCACGCGGTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1411147	True	Unknown	T	3	4	80	32983867	32983867	C	T	1	0	0	0	0	1	0	0	0	15780	768	27	2		2	SUN5	20	32983867	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1138523	32983867	31460300	463	1636											
NCOA6	23054	BI	GRCh38	chr20	34740664	34740664	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gataactgctctgttcccatGagccccggagctgtggtgtc	12	12	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.5592C>T	p.=	p.L1864L	ENST00000359003	11/15	72	35	37	87			NCOA6,synonymous_variant,p.L1864L,ENST00000374796,,c.5592C>T,LOW,YES,,,-1;NCOA6,synonymous_variant,p.L1864L,ENST00000359003,NM_014071.3,c.5592C>T,LOW,,,,-1;NCOA6,intron_variant,,ENST00000612493,NM_001242539.1,c.2915-3906C>T,MODIFIER,,,,-1;NCOA6,intron_variant,,ENST00000616167,,c.2915-1732C>T,MODIFIER,,,,-1;NCOA6,intron_variant,,ENST00000628752,,c.303-3906C>T,MODIFIER,,,,-1	A	ENST00000359003	Transcript	synonymous_variant	synonymous_variant	5933/7081	5592/6192	1864/2063	L	ctC/ctT		1		-1	NCOA6	HGNC	HGNC:15936	protein_coding		CCDS13241.1	ENSP00000351894	Q14686		UPI000013C634	NM_014071.3			11/15																			LOW		SNV	1			1											PASS	CCCATGAGCCC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	34740664	34740664	G	A	1	0	0	0	0	0	0	0	1	10252	1277	45	3		3	NCOA6	20	34740664	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1756797	34740664	29703503	464	1637											
RBL1	5933	BI	GRCh38	chr20	37007427	37007427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccatatggtcctgattcGccaagtcgtatttcagtgca	8	10	1	1	rs374029496	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2855C>T	p.Ala952Val	p.A952V	ENST00000373664	20/22	33	26	7	55			RBL1,missense_variant,p.A952V,ENST00000373664,NM_002895.3,c.2855C>T,MODERATE,YES,tolerated(0.05),benign(0.022),-1;RBL1,missense_variant,p.A952V,ENST00000344359,NM_183404.2,c.2855C>T,MODERATE,,deleterious(0.05),benign(0.01),-1	A	ENST00000373664	Transcript	missense_variant	missense_variant	2922/5684	2855/3207	952/1068	A/V	gCg/gTg	rs374029496	1		-1	RBL1	HGNC	HGNC:9893	protein_coding	YES	CCDS13289.1	ENSP00000362768	P28749		UPI000013D34E	NM_002895.3	tolerated(0.05)	benign(0.022)	20/22		Superfamily_domains:SSF47954								0	1e-04								MODERATE	1	SNV	1			1	8.237e-06	8.24e-06	0	0	0	0	1.499e-05	0	0		PASS	GATTCGCCAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM2760395	True	Unknown	A	3	1	80	37007427	37007427	G	A	1	0	0	0	0	1	0	0	0	13275	1087	38	2		2	RBL1	20	37007427	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2266763	37007427	27436740	465	1638											
ZHX3	23051	BI	GRCh38	chr20	41202578	41202578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctggacaaagagctgcCgcagcaagtgccgctgctgg	15	11	1	1	rs371613858	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2339G>A	p.Arg780Gln	p.R780Q	ENST00000309060	4/5	99	91	8	121			ZHX3,missense_variant,p.R780Q,ENST00000309060,NM_015035.3,c.2339G>A,MODERATE,YES,deleterious(0.01),possibly_damaging(0.455),-1;ZHX3,missense_variant,p.R489Q,ENST00000421422,,c.1464G>A,MODERATE,,deleterious(0),possibly_damaging(0.473),-1;ZHX3,missense_variant,p.R780Q,ENST00000559234,,c.2339G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.455),-1;ZHX3,missense_variant,p.R780Q,ENST00000560361,,c.2339G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.455),-1;ZHX3,missense_variant,p.R780Q,ENST00000544979,,c.2339G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.778),-1;ZHX3,missense_variant,p.R780Q,ENST00000432768,,c.2339G>A,MODERATE,,deleterious(0.01),possibly_damaging(0.455),-1;ZHX3,intron_variant,,ENST00000560364,,c.672+1667G>A,MODIFIER,,,,-1;ZHX3,intron_variant,,ENST00000558993,,c.672+1667G>A,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000436440,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000436099,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000441102,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000373261,,,MODIFIER,,,,-1;ZHX3,downstream_gene_variant,,ENST00000419740,,,MODIFIER,,,,-1;ZHX3,upstream_gene_variant,,ENST00000559436,,,MODIFIER,,,,-1	T	ENST00000309060	Transcript	missense_variant	missense_variant	2755/10030	2339/2871	780/956	R/Q	cGg/cAg	rs371613858	1		-1	ZHX3	HGNC	HGNC:15935	protein_coding	YES	CCDS13315.1	ENSP00000312222	Q9H4I2		UPI000000D72C	NM_015035.3	deleterious(0.01)	possibly_damaging(0.455)	4/5		PROSITE_profiles:PS50071;SMART_domains:SM00389;Superfamily_domains:SSF46689								2e-04	0								MODERATE	1	SNV	5			1	4.942e-05	4.944e-05	0	0	0	0	1.499e-05	0	0.0003028		PASS	GCTGCCGCAGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4098403	True	Unknown	T	3	4	80	41202578	41202578	C	T	1	0	0	0	0	1	0	0	0	18256	652	23	2		2	ZHX3	20	41202578	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4195151	41202578	23241589	466	1639											
JPH2	57158	BI	GRCh38	chr20	44159889	44159889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcacgccgaagcccgagcGtttgtcgttcttccactcgc	10	16	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.898C>T	p.Arg300Cys	p.R300C	ENST00000372980	2/6	23	17	6	21			JPH2,missense_variant,p.R300C,ENST00000372980,NM_020433.4,c.898C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1	A	ENST00000372980	Transcript	missense_variant	missense_variant	1771/4787	898/2091	300/696	R/C	Cgc/Tgc		1		-1	JPH2	HGNC	HGNC:14202	protein_coding	YES	CCDS13325.1	ENSP00000362071	Q9BR39		UPI000012DAC2	NM_020433.4	deleterious(0)	probably_damaging(1)	2/6		Pfam_domain:PF02493;SMART_domains:SM00698;Superfamily_domains:SSF82185;PIRSF_domain:PIRSF037387																	MODERATE	1	SNV	5			1											PASS	CGAGCGTTTGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	44159889	44159889	G	A	1	0	0	0	0	1	0	0	0	7873	1145	40	1		1	JPH2	20	44159889	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2957311	44159889	20284278	467	1640											
GDAP1L1	78997	BI	GRCh38	chr20	44257258	44257258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgcggctcaacctgggcGaggaggtgcccgtcatcatc	13	13	4	0	rs777303313	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.286G>A	p.Glu96Lys	p.E96K	ENST00000342560	2/6	25	17	8	25			GDAP1L1,missense_variant,p.E96K,ENST00000537864,NM_001256737.1,c.286G>A,MODERATE,YES,tolerated(0.13),probably_damaging(0.962),1;GDAP1L1,missense_variant,p.E7K,ENST00000617075,NM_001256738.1,c.19G>A,MODERATE,,tolerated(0.09),possibly_damaging(0.905),1;GDAP1L1,missense_variant,p.E96K,ENST00000612599,NM_001256740.1,c.286G>A,MODERATE,,tolerated(0.07),probably_damaging(0.926),1;GDAP1L1,missense_variant,p.E96K,ENST00000342560,NM_024034.4,c.286G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.905),1;GDAP1L1,missense_variant,p.E95K,ENST00000616372,,c.283G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.683),1;GDAP1L1,missense_variant,p.E96K,ENST00000438466,NM_001256739.1,c.286G>A,MODERATE,,tolerated(0.1),possibly_damaging(0.792),1;GDAP1L1,missense_variant,p.E43K,ENST00000445952,,c.125G>A,MODERATE,,tolerated(0.08),possibly_damaging(0.891),1;GDAP1L1,missense_variant,p.E96K,ENST00000372952,,c.286G>A,MODERATE,,tolerated(0.07),possibly_damaging(0.688),1	A	ENST00000342560	Transcript	missense_variant	missense_variant	374/2265	286/1104	96/367	E/K	Gag/Aag	rs777303313	1		1	GDAP1L1	HGNC	HGNC:4213	protein_coding		CCDS13328.1	ENSP00000341782	Q96MZ0			NM_024034.4	tolerated(0.08)	possibly_damaging(0.905)	2/6		Pfam_domain:PF02798;Superfamily_domains:SSF52833																	MODERATE		SNV	1			1	1.647e-05	1.748e-05	0	0	0.0002358	0	0	0	0		PASS	TGGGCGAGGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3939359;COSM724520	True	Unknown	A	3	1	80	44257258	44257258	G	A	1	0	0	0	0	1	0	0	0	6180	1059	37	2		2	GDAP1L1	20	44257258	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	97369	44257258	20186909	468	1641											
RUNX1	861	BI	GRCh38	chr21	34799369	34799369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccaggtgaaatgggcGttgctgggtgcacagaagga	16	8	0	2	rs758682659	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.818C>T	p.Thr273Met	p.T273M	ENST00000344691	5/6	91	73	18	101			RUNX1,missense_variant,p.T273M,ENST00000344691,NM_001001890.2,c.818C>T,MODERATE,,deleterious(0),possibly_damaging(0.794),-1;RUNX1,missense_variant,p.T300M,ENST00000300305,,c.899C>T,MODERATE,YES,deleterious(0),probably_damaging(0.931),-1;RUNX1,missense_variant,p.T300M,ENST00000437180,NM_001754.4,c.899C>T,MODERATE,,deleterious(0),probably_damaging(0.931),-1;RUNX1,missense_variant,p.T209M,ENST00000399240,,c.626C>T,MODERATE,,tolerated(0.09),probably_damaging(0.921),-1;RUNX1,3_prime_UTR_variant,,ENST00000482318,,c.*489C>T,MODIFIER,,,,-1	A	ENST00000344691	Transcript	missense_variant	missense_variant	2396/7274	818/1362	273/453	T/M	aCg/aTg	rs758682659	1		-1	RUNX1	HGNC	HGNC:10471	protein_coding		CCDS42922.1	ENSP00000340690	Q01196		UPI0000141569	NM_001001890.2	deleterious(0)	possibly_damaging(0.794)	5/6		PIRSF_domain:PIRSF009374																	MODERATE		SNV	1			1	4.118e-05	4.118e-05	0	0	0	0	7.492e-05	0	0		PASS	TGGGCGTTGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	34799369	34799369	G	A	1	0	0	0	0	1	0	0	0	14007	1145	40	1		1	RUNX1	21	34799369	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		34799369	11910614	469	1642											
HLCS	3141	BI	GRCh38	chr21	36765054	36765054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcttccacgacagccacGgacatcagatgctggacaaa	9	13	1	1	rs536830110	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1638C>T	p.=	p.S546S	ENST00000336648	9/12	43	25	18	58			HLCS,synonymous_variant,p.S546S,ENST00000399120,NM_001242784.1,c.1638C>T,LOW,YES,,,-1;HLCS,synonymous_variant,p.S546S,ENST00000612277,NM_001242785.1,c.1638C>T,LOW,,,,-1;HLCS,synonymous_variant,p.S546S,ENST00000336648,NM_000411.6,c.1638C>T,LOW,,,,-1	A	ENST00000336648	Transcript	synonymous_variant	synonymous_variant	2109/6010	1638/2181	546/726	S	tcC/tcT	rs536830110	1		-1	HLCS	HGNC	HGNC:4976	protein_coding		CCDS13647.1	ENSP00000338387	P50747		UPI0000126A8C	NM_000411.6			9/12		Pfam_domain:PF03099;TIGRFAM_domain:TIGR00121;Superfamily_domains:SSF55681	2e-04	8e-04	0		0	0	0										LOW		SNV	1			1	1.647e-05	1.648e-05	9.615e-05	0	0	0	1.499e-05	0	0		PASS	GCCACGGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3550571	True	Unknown	A	2	1	80	36765054	36765054	G	A	1	0	0	0	0	0	0	0	1	7103	1103	39	2		2	HLCS	21	36765054	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1965685	36765054	9944929	470	1643											
TRPM2	7226	BI	GRCh38	chr21	44364243	44364243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaaccgatgcctttggCgacatcgtcttcacgggcct	10	14	2	0	rs143653746	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.384C>T	p.=	p.G128G	ENST00000300482	4/33	35	23	12	70			TRPM2,synonymous_variant,p.G128G,ENST00000397928,NM_003307.3,c.384C>T,LOW,YES,,,1;TRPM2,synonymous_variant,p.G128G,ENST00000300482,,c.384C>T,LOW,,,,1;TRPM2,synonymous_variant,p.G128G,ENST00000300481,,c.384C>T,LOW,,,,1;TRPM2,synonymous_variant,p.G128G,ENST00000397932,,c.384C>T,LOW,,,,1;TRPM2,synonymous_variant,p.G128G,ENST00000431901,,c.384C>T,LOW,,,,1;TRPM2,upstream_gene_variant,,ENST00000498430,,,MODIFIER,,,,1	T	ENST00000300482	Transcript	synonymous_variant	synonymous_variant	597/5989	384/4512	128/1503	G	ggC/ggT	rs143653746	1		1	TRPM2	HGNC	HGNC:12339	protein_coding		CCDS13710.1	ENSP00000300482	O94759		UPI0000169D60				4/33			2e-04	8e-04	0		0	0	0	7e-04	0								LOW		SNV	1			1	6.589e-05	6.597e-05	0.0005771	0	0	0	0	0.001104	6.058e-05		PASS	TTTGGCGACAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac	COSM5774477	True	Unknown	T	2	4	80	44364243	44364243	C	T	1	0	0	0	0	0	0	0	1	17092	755	27	2		2	TRPM2	21	44364243	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	7599189	44364243	2345740	471	1644											
SLC25A18	83733	BI	GRCh38	chr22	17589654	17589654	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacatgtacagtgggatcacCgactgtgccaggtgagagcc	14	10	1	1	rs556042476	by1000G	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.795C>T	p.=	p.T265T	ENST00000327451	10/11	27	18	9	52			SLC25A18,synonymous_variant,p.T265T,ENST00000327451,NM_031481.1,c.795C>T,LOW,YES,,,1;SLC25A18,synonymous_variant,p.T265T,ENST00000399813,NM_001303484.1,c.795C>T,LOW,,,,1;ATP6V1E1,downstream_gene_variant,,ENST00000253413,NM_001696.3,,MODIFIER,YES,,,-1;ATP6V1E1,downstream_gene_variant,,ENST00000399796,NM_001039367.1,,MODIFIER,,,,-1;ATP6V1E1,downstream_gene_variant,,ENST00000399798,NM_001039366.1,,MODIFIER,,,,-1;ATP6V1E1,downstream_gene_variant,,ENST00000413576,,,MODIFIER,,,,-1;AC004019.13,upstream_gene_variant,,ENST00000443935,,,MODIFIER,YES,,,-1;AC004019.13,upstream_gene_variant,,ENST00000611039,,,MODIFIER,,,,-1;ATP6V1E1,downstream_gene_variant,,ENST00000473248,,,MODIFIER,,,,-1	T	ENST00000327451	Transcript	synonymous_variant	synonymous_variant	1333/2244	795/948	265/315	T	acC/acT	rs556042476	1		1	SLC25A18	HGNC	HGNC:10988	protein_coding	YES	CCDS13744.1	ENSP00000329033	Q9H1K4	A0A024R0W0	UPI00000015FA	NM_031481.1			10/11		Pfam_domain:PF00153;PROSITE_profiles:PS50920;Superfamily_domains:SSF103506	2e-04	8e-04	0		0	0	0										LOW	1	SNV	1			1	8.236e-06	8.248e-06	9.639e-05	0	0	0	0	0	0		PASS	ATCACCGACTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	17589654	17589654	C	T	1	0	0	0	0	0	0	0	1	14745	639	23	2		2	SLC25A18	22	17589654	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08		17589654	33228814	472	1645											
YPEL1	29799	BI	GRCh38	chr22	21703381	21703381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcacgtatttccaccCgagcgtggtcttgcagttct	10	13	3	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.259G>A	p.Gly87Arg	p.G87R	ENST00000339468	4/5	50	22	28	65			YPEL1,missense_variant,p.G87R,ENST00000339468,NM_013313.3,c.259G>A,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;PPIL2,downstream_gene_variant,,ENST00000335025,NM_148175.2,,MODIFIER,YES,,,1;YPEL1,downstream_gene_variant,,ENST00000403503,,,MODIFIER,,,,-1;YPEL1,non_coding_transcript_exon_variant,,ENST00000477675,,n.954G>A,MODIFIER,,,,-1	T	ENST00000339468	Transcript	missense_variant	missense_variant	643/4329	259/360	87/119	G/R	Ggg/Agg		1		-1	YPEL1	HGNC	HGNC:12845	protein_coding	YES	CCDS13794.1	ENSP00000342832	O60688		UPI000013BE05	NM_013313.3	deleterious(0)	probably_damaging(0.999)	4/5		Pfam_domain:PF03226																	MODERATE	1	SNV	1			1											PASS	CCACCCGAGCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	21703381	21703381	C	T	1	0	0	0	0	1	0	0	0	18051	652	23	2		2	YPEL1	22	21703381	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4113727	21703381	29115087	473	1646											
ZMAT5	55954	BI	GRCh38	chr22	29738432	29738432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctagtagccactccctggctCgcctctcctctgtggggaca	10	16	2	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.281G>A	p.Arg94Gln	p.R94Q	ENST00000344318	5/6	24	19	5	41			ZMAT5,missense_variant,p.R94Q,ENST00000344318,NM_001003692.1&NM_019103.2,c.281G>A,MODERATE,YES,tolerated(0.25),benign(0.008),-1	T	ENST00000344318	Transcript	missense_variant	missense_variant	398/899	281/513	94/170	R/Q	cGa/cAa		1		-1	ZMAT5	HGNC	HGNC:28046	protein_coding	YES	CCDS13868.1	ENSP00000344241	Q9UDW3	A0A024R1I1	UPI0000072567	NM_001003692.1;NM_019103.2	tolerated(0.25)	benign(0.008)	5/6		Superfamily_domains:SSF90229																	MODERATE	1	SNV	1			1											PASS	TGGCTCGCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	29738432	29738432	C	T	1	0	0	0	0	1	0	0	0	18275	884	31	2		2	ZMAT5	22	29738432	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8035051	29738432	21080036	474	1647											
DEPDC5	9681	BI	GRCh38	chr22	31843112	31843112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccttgtgtcccgaaacCgccctgaggaggaggaccag	14	12	0	1	rs780652126		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.2533C>T	p.Arg845Cys	p.R845C	ENST00000400246	28/43	44	38	6	61			DEPDC5,missense_variant,p.R845C,ENST00000400246,NM_001242896.1,c.2533C>T,MODERATE,YES,deleterious(0),possibly_damaging(0.816),1;DEPDC5,missense_variant,p.R836C,ENST00000400249,NM_014662.3,c.2506C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.762),1;DEPDC5,missense_variant,p.R836C,ENST00000382112,NM_001136029.2,c.2506C>T,MODERATE,,deleterious(0),possibly_damaging(0.762),1;DEPDC5,missense_variant,p.R836C,ENST00000400248,,c.2506C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.762),1;DEPDC5,missense_variant,p.R845C,ENST00000382111,,c.2533C>T,MODERATE,,deleterious(0),probably_damaging(0.992),1;DEPDC5,missense_variant,p.R767C,ENST00000535622,NM_001242897.1,c.2299C>T,MODERATE,,deleterious(0),possibly_damaging(0.63),1;DEPDC5,missense_variant,p.R243C,ENST00000433147,,c.725C>T,MODERATE,,deleterious(0.01),probably_damaging(0.996),1;DEPDC5,upstream_gene_variant,,ENST00000494060,,,MODIFIER,,,,1;DEPDC5,downstream_gene_variant,,ENST00000462414,,,MODIFIER,,,,1;DEPDC5,missense_variant,p.R197C,ENST00000448753,,c.589C>T,MODERATE,,deleterious(0),possibly_damaging(0.836),1;DEPDC5,non_coding_transcript_exon_variant,,ENST00000490731,,n.487C>T,MODIFIER,,,,1;DEPDC5,non_coding_transcript_exon_variant,,ENST00000471914,,n.451C>T,MODIFIER,,,,1	T	ENST00000400246	Transcript	missense_variant	missense_variant	2735/5551	2533/4812	845/1603	R/C	Cgc/Tgc	rs780652126	1		1	DEPDC5	HGNC	HGNC:18423	protein_coding	YES	CCDS74849.1	ENSP00000383105	O75140		UPI000192C426	NM_001242896.1	deleterious(0)	possibly_damaging(0.816)	28/43																			MODERATE	1	SNV	1			1	8.273e-06	8.295e-06	0.0001021	0	0	0	0	0	0		PASS	GAAACCGCCCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4601644;COSM4601645;COSM4601646	True	Unknown	T	3	4	80	31843112	31843112	C	T	1	0	0	0	0	1	0	0	0	4248	652	23	2		2	DEPDC5	22	31843112	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	2104680	31843112	18975356	475	1648											
TXN2	25828	BI	GRCh38	chr22	36480689	36480689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgtggtgtatattgtcCgggctgggttgggtgttaca	15	7	0	0	rs780339679	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.149G>A	p.Arg50Gln	p.R50Q	ENST00000216185	2/4	63	38	25	71			TXN2,missense_variant,p.R50Q,ENST00000216185,NM_012473.3,c.149G>A,MODERATE,YES,tolerated(0.08),benign(0.137),-1;TXN2,missense_variant,p.R50Q,ENST00000403313,,c.149G>A,MODERATE,,tolerated(0.08),benign(0.137),-1;TXN2,5_prime_UTR_variant,,ENST00000416967,,c.-158G>A,MODIFIER,,,,-1;TXN2,non_coding_transcript_exon_variant,,ENST00000487725,,n.129G>A,MODIFIER,,,,-1;TXN2,missense_variant,p.R50Q,ENST00000411915,,c.149G>A,MODERATE,,tolerated(0.06),benign(0.446),-1	T	ENST00000216185	Transcript	missense_variant	missense_variant	616/1736	149/501	50/166	R/Q	cGg/cAg	rs780339679	1		-1	TXN2	HGNC	HGNC:17772	protein_coding	YES	CCDS13928.1	ENSP00000216185	Q99757		UPI0000001BCB	NM_012473.3	tolerated(0.08)	benign(0.137)	2/4																			MODERATE	1	SNV	1			1	4.118e-05	4.118e-05	0	0.0004319	0	0	0	0	0		PASS	TTGTCCGGGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	T	3	4	80	36480689	36480689	C	T	1	0	0	0	0	1	0	0	0	17307	652	23	2		2	TXN2	22	36480689	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	4637577	36480689	14337779	476	1649											
RAC2	5880	BI	GRCh38	chr22	37232820	37232820	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtctgtggataggagagcGgccggagacggtcgtagtcc	17	10	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.206C>T	p.Pro69Leu	p.P69L	ENST00000249071	3/7	29	12	17	32			RAC2,missense_variant,p.P69L,ENST00000249071,NM_002872.4,c.206C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(1),-1;RAC2,missense_variant,p.P25L,ENST00000406508,,c.74C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(1),-1;RAC2,missense_variant,p.P62L,ENST00000405484,,c.185C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.993),-1;RAC2,missense_variant,p.P69L,ENST00000441619,,c.206C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(1),-1;RAC2,non_coding_transcript_exon_variant,,ENST00000469532,,n.336C>T,MODIFIER,,,,-1;RAC2,upstream_gene_variant,,ENST00000481215,,,MODIFIER,,,,-1	A	ENST00000249071	Transcript	missense_variant	missense_variant	328/1482	206/579	69/192	P/L	cCg/cTg		1		-1	RAC2	HGNC	HGNC:9802	protein_coding	YES	CCDS13945.1	ENSP00000249071	P15153	A0A024R1P2	UPI00001110AB	NM_002872.4	deleterious_low_confidence(0)	probably_damaging(1)	3/7		Pfam_domain:PF00071;Pfam_domain:PF08477;Pfam_domain:PF00025;TIGRFAM_domain:TIGR00231;SMART_domains:SM00173;SMART_domains:SM00175;SMART_domains:SM00174;SMART_domains:SM00176;Superfamily_domains:SSF52540																	MODERATE	1	SNV	1			1											PASS	AGAGCGGCCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	37232820	37232820	G	A	1	0	0	0	0	1	0	0	0	13134	1116	39	2		2	RAC2	22	37232820	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	752131	37232820	13585648	477	1650											
PLA2G6	8398	BI	GRCh38	chr22	38135023	38135023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggagggggctggctcCgtaacgggggtctttgctgt	18	9	1	0	rs752794250		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.859G>A	p.Gly287Arg	p.G287R	ENST00000332509	6/17	39	26	13	37			PLA2G6,missense_variant,p.G287R,ENST00000332509,NM_003560.2,c.859G>A,MODERATE,YES,deleterious(0),probably_damaging(0.936),-1;PLA2G6,missense_variant,p.G287R,ENST00000335539,NM_001004426.1,c.859G>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;PLA2G6,missense_variant,p.G287R,ENST00000402064,NM_001199562.1,c.859G>A,MODERATE,,deleterious(0),probably_damaging(0.961),-1;PLA2G6,missense_variant,p.G92R,ENST00000427114,,c.273G>A,MODERATE,,deleterious(0),probably_damaging(0.998),-1;PLA2G6,missense_variant,p.G109R,ENST00000498338,,c.325G>A,MODERATE,,deleterious(0),probably_damaging(0.936),-1;PLA2G6,missense_variant,p.G118R,ENST00000452542,,c.351G>A,MODERATE,,deleterious(0),probably_damaging(0.995),-1;PLA2G6,missense_variant,p.G39R,ENST00000427453,,c.114G>A,MODERATE,,deleterious(0),probably_damaging(1),-1;PLA2G6,upstream_gene_variant,,ENST00000452794,,,MODIFIER,,,,-1;CTA-228A9.4,non_coding_transcript_exon_variant,,ENST00000624072,,n.4808C>T,MODIFIER,YES,,,1;PLA2G6,missense_variant,p.G14R,ENST00000448094,,c.40G>A,MODERATE,,deleterious(0),probably_damaging(0.999),-1;PLA2G6,intron_variant,,ENST00000471636,,n.412+5111G>A,MODIFIER,,,,-1	T	ENST00000332509	Transcript	missense_variant	missense_variant	1043/3271	859/2421	287/806	G/R	Gga/Aga	rs752794250	1		-1	PLA2G6	HGNC	HGNC:9039	protein_coding	YES	CCDS13967.1	ENSP00000333142	O60733		UPI00001310F3	NM_003560.2	deleterious(0)	probably_damaging(0.936)	6/17		PROSITE_profiles:PS50297;SMART_domains:SM00248;Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1	8.236e-06	8.361e-06	0	0	0	0	1.521e-05	0	0		PASS	GGCTCCGTAAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	38135023	38135023	C	T	1	0	0	0	0	1	0	0	0	12104	661	23	2		2	PLA2G6	22	38135023	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	902203	38135023	12683445	478	1651											
PLA2G6	8398	BI	GRCh38	chr22	38143149	38143149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggacagcataatggaagaCggtctctcccttgtagtcgg	12	10	1	1	rs755993359	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.565G>A	p.Val189Ile	p.V189I	ENST00000332509	4/17	206	151	55	282			PLA2G6,missense_variant,p.V189I,ENST00000332509,NM_003560.2,c.565G>A,MODERATE,YES,tolerated(0.21),benign(0.006),-1;PLA2G6,missense_variant,p.V189I,ENST00000335539,NM_001004426.1,c.565G>A,MODERATE,,tolerated(0.21),benign(0.077),-1;PLA2G6,missense_variant,p.V189I,ENST00000402064,NM_001199562.1,c.565G>A,MODERATE,,tolerated(0.21),benign(0.077),-1;PLA2G6,missense_variant,p.V11I,ENST00000498338,,c.31G>A,MODERATE,,tolerated(0.23),benign(0.006),-1;PLA2G6,missense_variant,p.V117I,ENST00000430886,,c.349G>A,MODERATE,,tolerated(0.43),benign(0.13),-1;PLA2G6,missense_variant,p.V23I,ENST00000452542,,c.66G>A,MODERATE,,tolerated(0.2),benign(0.378),-1;PLA2G6,synonymous_variant,p.P56P,ENST00000427114,,c.167G>A,LOW,,,,-1;PLA2G6,intron_variant,,ENST00000436218,,c.425+2289G>A,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000435484,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000447598,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000417303,,,MODIFIER,,,,-1;PLA2G6,upstream_gene_variant,,ENST00000427453,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000455341,,,MODIFIER,,,,-1;CTA-228A9.4,non_coding_transcript_exon_variant,,ENST00000624072,,n.12934C>T,MODIFIER,YES,,,1;PLA2G6,non_coding_transcript_exon_variant,,ENST00000479641,,n.491G>A,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000420435,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000445591,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000452972,,,MODIFIER,,,,-1;PLA2G6,downstream_gene_variant,,ENST00000426674,,,MODIFIER,,,,-1;PLA2G6,intron_variant,,ENST00000471636,,n.376+2414G>A,MODIFIER,,,,-1	T	ENST00000332509	Transcript	missense_variant	missense_variant	749/3271	565/2421	189/806	V/I	Gtc/Atc	rs755993359	1		-1	PLA2G6	HGNC	HGNC:9039	protein_coding	YES	CCDS13967.1	ENSP00000333142	O60733		UPI00001310F3	NM_003560.2	tolerated(0.21)	benign(0.006)	4/17		PROSITE_profiles:PS50297;SMART_domains:SM00248;Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1	3.295e-05	3.295e-05	0	8.637e-05	0.0002312	0	0	0	6.056e-05		PASS	GAAGACGGTCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	38143149	38143149	C	T	1	0	0	0	0	1	0	0	0	12104	536	19	1		1	PLA2G6	22	38143149	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	8126	38143149	12675319	479	1652											
L3MBTL2	83746	BI	GRCh38	chr22	41225883	41225883	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccatgcctcttcccaCgccatcttcccggccacctt	5	20	2	0	rs764759330		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1446C>T	p.=	p.H482H	ENST00000216237	12/17	37	23	14	53			L3MBTL2,synonymous_variant,p.H482H,ENST00000216237,NM_031488.4,c.1446C>T,LOW,YES,,,1;CHADL,downstream_gene_variant,,ENST00000216241,NM_138481.1,,MODIFIER,YES,,,-1;CHADL,downstream_gene_variant,,ENST00000417999,,,MODIFIER,,,,-1;L3MBTL2,downstream_gene_variant,,ENST00000449635,,,MODIFIER,,,,1;L3MBTL2,synonymous_variant,p.H482H,ENST00000452106,,c.1446C>T,LOW,,,,1;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000479978,,n.3704C>T,MODIFIER,,,,1;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000466589,,n.1500C>T,MODIFIER,,,,1;L3MBTL2,non_coding_transcript_exon_variant,,ENST00000481902,,n.1569C>T,MODIFIER,,,,1;L3MBTL2,downstream_gene_variant,,ENST00000450939,,,MODIFIER,,,,1	T	ENST00000216237	Transcript	synonymous_variant	synonymous_variant	1604/3296	1446/2118	482/705	H	caC/caT	rs764759330	1		1	L3MBTL2	HGNC	HGNC:18594	protein_coding	YES	CCDS14011.1	ENSP00000216237	Q969R5		UPI000012E77E	NM_031488.4			12/17		Pfam_domain:PF02820;PROSITE_profiles:PS51079;SMART_domains:SM00561;Superfamily_domains:SSF63748																	LOW	1	SNV	1			1	8.236e-06	8.251e-06	0	0	0	0	0	0	6.058e-05		PASS	TCCCACGCCAT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	41225883	41225883	C	T	1	0	0	0	0	0	0	0	1	8494	535	19	1		1	L3MBTL2	22	41225883	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	3082734	41225883	9592585	480	1653											
CELSR1	9620	BI	GRCh38	chr22	46464099	46464099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacgccgccaggcagcagcGccgagaaggtcacgttcagg	16	13	2	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3791C>T	p.Ala1264Val	p.A1264V	ENST00000262738	2/35	73	67	6	90			CELSR1,missense_variant,p.A1264V,ENST00000262738,NM_014246.1,c.3791C>T,MODERATE,YES,tolerated(0.2),probably_damaging(0.999),-1;CELSR1,missense_variant,p.A639V,ENST00000454637,,c.1915C>T,MODERATE,,tolerated(0.28),benign(0.114),-1	A	ENST00000262738	Transcript	missense_variant	missense_variant	3791/11389	3791/9045	1264/3014	A/V	gCg/gTg		1		-1	CELSR1	HGNC	HGNC:1850	protein_coding	YES	CCDS14076.1	ENSP00000262738	Q9NYQ6		UPI0000040648	NM_014246.1	tolerated(0.2)	probably_damaging(0.999)	2/35																			MODERATE	1	SNV	1			1											PASS	GCAGCGCCGAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	46464099	46464099	G	A	1	0	0	0	0	1	0	0	0	2928	1087	38	2		2	CELSR1	22	46464099	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5238216	46464099	4354369	481	1654											
MLC1	23209	BI	GRCh38	chr22	50077433	50077433	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcctcctcgctggaccGtgcagcgatgatcaccgtgg	13	14	1	1	rs757541925	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.493C>T	p.Arg165Trp	p.R165W	ENST00000311597	6/12	43	23	20	52			MLC1,missense_variant,p.R165W,ENST00000311597,NM_015166.3,c.493C>T,MODERATE,YES,deleterious_low_confidence(0),probably_damaging(0.998),-1;MLC1,missense_variant,p.R165W,ENST00000395876,NM_139202.2,c.493C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.998),-1;MLC1,missense_variant,p.R135W,ENST00000442311,,c.403C>T,MODERATE,,deleterious_low_confidence(0),probably_damaging(0.995),-1;MLC1,upstream_gene_variant,,ENST00000483836,,,MODIFIER,,,,-1;MLC1,upstream_gene_variant,,ENST00000470008,,,MODIFIER,,,,-1	A	ENST00000311597	Transcript	missense_variant	missense_variant	1100/3933	493/1134	165/377	R/W	Cgg/Tgg	rs757541925	1		-1	MLC1	HGNC	HGNC:17082	protein_coding	YES	CCDS14083.1	ENSP00000310375	Q15049	A0A024R4V4	UPI000004AD09	NM_015166.3	deleterious_low_confidence(0)	probably_damaging(0.998)	6/12																			MODERATE	1	SNV	1			1	8.237e-06	8.337e-06	0	0	0	0	0	0	6.088e-05		PASS	GGACCGTGCAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	50077433	50077433	G	A	1	0	0	0	0	1	0	0	0	9580	1144	40	1		1	MLC1	22	50077433	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3613334	50077433	741035	482	1655											
PPP6R2	9701	BI	GRCh38	chr22	50423531	50423531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcccgtctgcatggcgccCgcctcatggcagcactgctg	12	16	2	0	rs775856214	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1042C>T	p.Arg348Cys	p.R348C	ENST00000216061	11/25	42	34	8	48			PPP6R2,missense_variant,p.R348C,ENST00000612753,NM_001242898.1,c.1042C>T,MODERATE,YES,deleterious(0),probably_damaging(0.997),1;PPP6R2,missense_variant,p.R348C,ENST00000359139,NM_001242900.1,c.1042C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;PPP6R2,missense_variant,p.R348C,ENST00000216061,,c.1042C>T,MODERATE,,deleterious(0),probably_damaging(0.998),1;PPP6R2,missense_variant,p.R349C,ENST00000395741,NM_001242899.1,c.1045C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;PPP6R2,missense_variant,p.R348C,ENST00000395744,NM_014678.4,c.1042C>T,MODERATE,,deleterious(0),probably_damaging(0.997),1;PPP6R2,missense_variant,p.R74C,ENST00000401672,,c.218C>T,MODERATE,,deleterious(0),probably_damaging(0.999),1;PPP6R2,upstream_gene_variant,,ENST00000427222,,,MODIFIER,,,,1	T	ENST00000216061	Transcript	missense_variant	missense_variant	1412/3415	1042/2901	348/966	R/C	Cgc/Tgc	rs775856214	1		1	PPP6R2	HGNC	HGNC:19253	protein_coding			ENSP00000216061	O75170		UPI00001B31C3		deleterious(0)	probably_damaging(0.998)	11/25		Pfam_domain:PF04499																	MODERATE		SNV	1			1	2.471e-05	2.477e-05	0.0001926	0	0	0	1.504e-05	0	0		PASS	GCGCCCGCCTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	50423531	50423531	C	T	1	0	0	0	0	1	0	0	0	12535	652	23	2		2	PPP6R2	22	50423531	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	346098	50423531	394937	483	1656											
SBF1	6305	BI	GRCh38	chr22	50460630	50460630	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggccctgatgtccggcGggtaccgcagcttatgcagc	15	12	0	1	rs780146082		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.3050C>T	p.Pro1017Leu	p.P1017L	ENST00000380817	24/41	87	65	22	145			SBF1,missense_variant,p.P1017L,ENST00000380817,NM_002972.2,c.3050C>T,MODERATE,YES,deleterious(0),probably_damaging(1),-1;SBF1,missense_variant,p.P1018L,ENST00000348911,,c.3053C>T,MODERATE,,deleterious(0),possibly_damaging(0.876),-1;SBF1,upstream_gene_variant,,ENST00000476293,,,MODIFIER,,,,-1;SBF1,upstream_gene_variant,,ENST00000470434,,,MODIFIER,,,,-1	A	ENST00000380817	Transcript	missense_variant	missense_variant	3234/8008	3050/5682	1017/1893	P/L	cCg/cTg	rs780146082	1		-1	SBF1	HGNC	HGNC:10542	protein_coding	YES	CCDS14091.2	ENSP00000370196	O95248	A0A024R4Z9	UPI00001D69ED	NM_002972.2	deleterious(0)	probably_damaging(1)	24/41		Superfamily_domains:SSF50729																	MODERATE	1	SNV	1			1	8.267e-06	8.302e-06	0.0001022	0	0	0	0	0	0		PASS	CCGGCGGGTAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1417117;COSM1417118	True	Unknown	A	3	1	80	50460630	50460630	G	A	1	0	0	0	0	1	0	0	0	14122	1116	39	2		2	SBF1	22	50460630	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	37099	50460630	357838	484	1657											
CSF2RA	1438	BI	GRCh38	chrX	1294422	1294422	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacctatcagaagctgtcGtacctggactttcagtacca	9	11	2	1	rs761160075		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.741G>A	p.=	p.S247S	ENST00000381524	8/13	64	51	13	70			CSF2RA,synonymous_variant,p.S247S,ENST00000381524,,c.741G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000432318,NM_001161529.1,c.741G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000417535,NM_001161530.1,c.741G>A,LOW,YES,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000381529,NM_006140.4&NM_172245.2,c.741G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000355432,NM_172246.2,c.741G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S114S,ENST00000501036,NM_001161532.1,c.342G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000381509,NM_001161531.1,c.741G>A,LOW,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000381500,NM_172247.2,c.741G>A,LOW,,,,1;CSF2RA,intron_variant,,ENST00000355805,NM_172249.2,c.646+3913G>A,MODIFIER,,,,1;CSF2RA,intron_variant,,ENST00000494969,,c.244+7224G>A,MODIFIER,,,,1;CSF2RA,downstream_gene_variant,,ENST00000419094,,,MODIFIER,,,,1;CSF2RA,downstream_gene_variant,,ENST00000412290,,,MODIFIER,,,,1;BX649553.1,downstream_gene_variant,,ENST00000583047,,,MODIFIER,YES,,,1;BX649553.2,downstream_gene_variant,,ENST00000578699,,,MODIFIER,YES,,,1;MIR3690,downstream_gene_variant,,ENST00000580266,,,MODIFIER,YES,,,1;BX649553.3,downstream_gene_variant,,ENST00000581137,,,MODIFIER,YES,,,1;BX649553.4,downstream_gene_variant,,ENST00000580687,,,MODIFIER,YES,,,1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000498153,,n.95G>A,MODIFIER,,,,1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000493312,,n.778G>A,MODIFIER,,,,1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000475259,,n.152G>A,MODIFIER,,,,1;CSF2RA,non_coding_transcript_exon_variant,,ENST00000491683,,n.198G>A,MODIFIER,,,,1;CSF2RA,synonymous_variant,p.S247S,ENST00000486791,,c.741G>A,LOW,,,,1	A	ENST00000381524	Transcript	synonymous_variant	synonymous_variant	927/2291	741/1203	247/400	S	tcG/tcA	rs761160075	1		1	CSF2RA	HGNC	HGNC:2435	protein_coding		CCDS35191.1	ENSP00000370935	P15509		UPI0000000C45				8/13		Superfamily_domains:SSF49265																	LOW		SNV	1			1											PASS	CTGTCGTACCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	1294422	1294422	G	A	1	0	0	0	0	0	0	0	1	3735	1132	40	1		1	CSF2RA	23	1294422	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08		1294422	154746473	485	1658											
ARSF	416	BI	GRCh38	chrX	3084343	3084343	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggcatgccgttcactctCgttgacagctgctggccgga	12	12	2	1	rs141924849	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.507C>T	p.=	p.L169L	ENST00000359361	6/11	72	39	33	75			ARSF,synonymous_variant,p.L169L,ENST00000381127,NM_001201539.1&NM_001201538.1,c.507C>T,LOW,YES,,,1;ARSF,synonymous_variant,p.L169L,ENST00000359361,NM_004042.4,c.507C>T,LOW,,,,1	T	ENST00000359361	Transcript	synonymous_variant	synonymous_variant	575/1991	507/1773	169/590	L	ctC/ctT	rs141924849	1		1	ARSF	HGNC	HGNC:721	protein_coding		CCDS14123.1	ENSP00000352319	P54793			NM_004042.4			6/11		Pfam_domain:PF00884;Pfam_domain:PF01663;Superfamily_domains:SSF53649	0.005	0	0		0	0	0.0194	0	1e-04								LOW		SNV	1			1	0.002825	0.002462	0	0	0	0	2.084e-05	0	0.02124		panel_of_normals	ACTCTCGTTGA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	T	2	4	80	3084343	3084343	C	T	1	0	0	0	0	0	0	0	1	1134	871	31	2		2	ARSF	23	3084343	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1789921	3084343	152956552	486	1659											
ASB11	140456	BI	GRCh38	chrX	15287908	15287908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcaagagtgcctgctccaCgctgctttttggagccgcca	12	13	0	1	rs760467867	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.820G>A	p.Val274Met	p.V274M	ENST00000480796	6/7	51	41	10	64			ASB11,missense_variant,p.V257M,ENST00000380470,NM_001201583.1,c.769G>A,MODERATE,,deleterious(0.03),benign(0.044),-1;ASB11,missense_variant,p.V253M,ENST00000344384,NM_001012428.2,c.757G>A,MODERATE,,deleterious(0.04),benign(0.137),-1;ASB11,missense_variant,p.V274M,ENST00000480796,NM_080873.2,c.820G>A,MODERATE,YES,deleterious(0.04),benign(0.044),-1;ASB11,3_prime_UTR_variant,,ENST00000485437,,c.*263G>A,MODIFIER,,,,-1	T	ENST00000480796	Transcript	missense_variant	missense_variant	871/1484	820/972	274/323	V/M	Gtg/Atg	rs760467867	1		-1	ASB11	HGNC	HGNC:17186	protein_coding	YES	CCDS14164.1	ENSP00000417914	Q8WXH4		UPI00000474F1	NM_080873.2	deleterious(0.04)	benign(0.044)	6/7		PROSITE_profiles:PS50297;PROSITE_profiles:PS50225;Superfamily_domains:SSF48403																	MODERATE	1	SNV	1			1	4.118e-05	3.545e-05	0.0002369	0	0	0	2.118e-05	0	0		PASS	CTCCACGCTGC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1245531;COSM1245532	True	Unknown	T	3	4	80	15287908	15287908	C	T	1	0	0	0	0	1	0	0	0	1157	536	19	1		1	ASB11	23	15287908	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	12203565	15287908	140752987	487	1660											
PPEF1	5475	BI	GRCh38	chrX	18757692	18757692	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagtcctgaagcaaatgccGaatttcactcacatacaaac	5	11	2	1	rs143899775	by1000G;byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.462G>A	p.=	p.P154P	ENST00000361511	8/19	244	134	110	223			PPEF1,synonymous_variant,p.P154P,ENST00000361511,NM_006240.2&NM_152224.1,c.462G>A,LOW,YES,,,1;PPEF1,synonymous_variant,p.P154P,ENST00000349874,NM_152226.1,c.462G>A,LOW,,,,1;PPEF1,synonymous_variant,p.P2P,ENST00000496075,,c.6G>A,LOW,,,,1;PPEF1,synonymous_variant,p.P64P,ENST00000472826,,c.192G>A,LOW,,,,1;PPEF1,non_coding_transcript_exon_variant,,ENST00000379962,,n.433G>A,MODIFIER,,,,1	A	ENST00000361511	Transcript	synonymous_variant	synonymous_variant	956/2890	462/1962	154/653	P	ccG/ccA	rs143899775	1		1	PPEF1	HGNC	HGNC:9243	protein_coding	YES	CCDS14188.1	ENSP00000354871	O14829	A0A024RBZ9	UPI0000001C4F	NM_006240.2;NM_152224.1			8/19		Pfam_domain:PF08321;SMART_domains:SM00156;Superfamily_domains:SSF56300;PIRSF_domain:PIRSF000912	8e-04	0.0023	0		0	0	0	8e-04	0								LOW	1	SNV	1			1	0.0001483	0.0001596	0.001292	0.0002146	0	0	0	0	9.901e-05		PASS	ATGCCGAATTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac		True	Unknown	A	2	1	80	18757692	18757692	G	A	1	0	0	0	0	0	0	0	1	12416	1045	37	2		2	PPEF1	23	18757692	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3469784	18757692	137283203	488	1661											
PHKA2	5256	BI	GRCh38	chrX	18926515	18926515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgaattggatgaatgtccGcgatactctggacgttcacc	10	10	2	2	rs191267737	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1397C>T	p.Ala466Val	p.A466V	ENST00000379942	14/33	118	106	12	153			PHKA2,missense_variant,p.A466V,ENST00000379942,NM_000292.2,c.1397C>T,MODERATE,YES,deleterious(0.03),benign(0.097),-1;PHKA2,upstream_gene_variant,,ENST00000464455,,,MODIFIER,,,,-1	A	ENST00000379942	Transcript	missense_variant	missense_variant	2063/5559	1397/3708	466/1235	A/V	gCg/gTg	rs191267737	1		-1	PHKA2	HGNC	HGNC:8926	protein_coding	YES	CCDS14190.1	ENSP00000369274	P46019		UPI000012DF4B	NM_000292.2	deleterious(0.03)	benign(0.097)	14/33		Pfam_domain:PF00723	3e-04	0	0		0.001	0	0										MODERATE	1	SNV	1			1	4.942e-05	4.558e-05	0	0	0.0001506	0	4.167e-05	0	9.879e-05		PASS	TGTCCGCGATA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM457216	True	Unknown	A	3	1	80	18926515	18926515	G	A	1	0	0	0	0	1	0	0	0	11932	1087	38	2		2	PHKA2	23	18926515	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	168823	18926515	137114380	489	1662											
MAP7D2	256714	BI	GRCh38	chrX	20063525	20063525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctcctccatttgcttttcGtactgcagcctggctctttt	7	14	1	0	rs184432892	by1000G;byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.261C>T	p.=	p.Y87Y	ENST00000379651	3/16	108	57	51	128			MAP7D2,synonymous_variant,p.Y87Y,ENST00000379651,NM_152780.3,c.261C>T,LOW,,,,-1;MAP7D2,synonymous_variant,p.Y87Y,ENST00000379643,NM_001168465.1,c.261C>T,LOW,YES,,,-1;MAP7D2,synonymous_variant,p.Y87Y,ENST00000443379,NM_001168466.1,c.261C>T,LOW,,,,-1;MAP7D2,synonymous_variant,p.Y43Y,ENST00000452324,NM_001168467.1,c.129C>T,LOW,,,,-1	A	ENST00000379651	Transcript	synonymous_variant	synonymous_variant	280/3930	261/2199	87/732	Y	taC/taT	rs184432892	1		-1	MAP7D2	HGNC	HGNC:25899	protein_coding		CCDS14195.1	ENSP00000368972	Q96T17		UPI00001AFEA0	NM_152780.3			3/16		Coiled-coils_(Ncoils):ncoils	3e-04	0	0		0	0.001	0	0	3e-04								LOW		SNV	1			1	0.0002965	0.0003308	0	0	0	0	0.0006047	0	0		panel_of_normals	TTTTCGTACTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	common_in_exac;gdc_pon		True	Unknown	A	2	1	80	20063525	20063525	G	A	1	0	0	0	0	0	0	0	1	9192	1140	40	1		1	MAP7D2	23	20063525	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1137010	20063525	135977370	490	1663											
NYX	60506	BI	GRCh38	chrX	41474287	41474287	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggttcgctgacctggcCgagctcgagctgctctacct	12	15	1	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.834C>T	p.=	p.A278A	ENST00000342595	2/2	26	19	7	26			NYX,synonymous_variant,p.A278A,ENST00000342595,NM_022567.2,c.834C>T,LOW,YES,,,1;NYX,synonymous_variant,p.A278A,ENST00000378220,,c.834C>T,LOW,,,,1;NYX,downstream_gene_variant,,ENST00000486842,,,MODIFIER,,,,1;RP1-169I5.4,upstream_gene_variant,,ENST00000451718,,,MODIFIER,YES,,,-1	T	ENST00000342595	Transcript	synonymous_variant	synonymous_variant	1290/2713	834/1446	278/481	A	gcC/gcT		1		1	NYX	HGNC	HGNC:8082	protein_coding	YES	CCDS14256.1	ENSP00000340328	Q9GZU5		UPI0000130B37	NM_022567.2			2/2		Low_complexity_(Seg):Seg;SMART_domains:SM00369;Superfamily_domains:SSF52058																	LOW	1	SNV	1			1											PASS	CTGGCCGAGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	2	4	80	41474287	41474287	C	T	1	0	0	0	0	0	0	0	1	10875	639	23	2		2	NYX	23	41474287	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	21410762	41474287	114566608	491	1664											
MAOB	4129	BI	GRCh38	chrX	43843705	43843705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctcccacacggtcccGggcttccagaacaaccacat	7	19	0	1	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.106C>T	p.Arg36Trp	p.R36W	ENST00000378069	2/15	63	46	17	66			MAOB,missense_variant,p.R36W,ENST00000378069,NM_000898.4,c.106C>T,MODERATE,YES,deleterious(0),probably_damaging(0.999),-1;MAOB,non_coding_transcript_exon_variant,,ENST00000487544,,n.432C>T,MODIFIER,,,,-1;MAOB,downstream_gene_variant,,ENST00000468431,,,MODIFIER,,,,-1	A	ENST00000378069	Transcript	missense_variant	missense_variant	254/2566	106/1563	36/520	R/W	Cgg/Tgg		1		-1	MAOB	HGNC	HGNC:6834	protein_coding	YES	CCDS14261.1	ENSP00000367309	P27338		UPI0000049071	NM_000898.4	deleterious(0)	probably_damaging(0.999)	2/15		Pfam_domain:PF01593;Pfam_domain:PF01266;Pfam_domain:PF00890;Pfam_domain:PF01946;Pfam_domain:PF00070;Pfam_domain:PF01494;Superfamily_domains:SSF51905																	MODERATE	1	SNV	1			1											panel_of_normals	GTCCCGGGCTT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	A	3	1	80	43843705	43843705	G	A	1	0	0	0	0	1	0	0	0	9148	1115	39	2		2	MAOB	23	43843705	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2369418	43843705	112197190	492	1665											
CFP	5199	BI	GRCh38	chrX	47626475	47626475	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggacttcatgttccgtcGgatacaggggctccactccc	11	13	1	0	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.985C>T	p.Arg329Ter	p.R329*	ENST00000247153	8/10	26	18	8	37			CFP,stop_gained,p.R329*,ENST00000247153,NM_002621.2,c.985C>T,HIGH,YES,,,-1;CFP,stop_gained,p.R329*,ENST00000396992,NM_001145252.1,c.985C>T,HIGH,,,,-1;CFP,stop_gained,p.R329*,ENST00000377005,,c.985C>T,HIGH,,,,-1;CFP,downstream_gene_variant,,ENST00000469388,,,MODIFIER,,,,-1;CFP,downstream_gene_variant,,ENST00000480317,,,MODIFIER,,,,-1;CFP,non_coding_transcript_exon_variant,,ENST00000485991,,n.2282C>T,MODIFIER,,,,-1;CFP,non_coding_transcript_exon_variant,,ENST00000478222,,n.106C>T,MODIFIER,,,,-1	A	ENST00000247153	Transcript	stop_gained	stop_gained	1227/1713	985/1410	329/469	R/*	Cga/Tga		1		-1	CFP	HGNC	HGNC:8864	protein_coding	YES	CCDS14282.1	ENSP00000247153	P27918		UPI0000132325	NM_002621.2			8/10		Pfam_domain:PF00090;SMART_domains:SM00209;PROSITE_profiles:PS50092;Superfamily_domains:SSF82895																	HIGH	1	SNV	5			1											PASS	CCGTCGGATAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	4	1	80	47626475	47626475	G	A	1	0	0	0	0	0	1	0	0	3051	1124	39	2		2	CFP	23	47626475	Nonsense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3782770	47626475	108414420	493	1666											
HUWE1	10075	BI	GRCh38	chrX	53575665	53575665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatggaaaaacctgactgcGtatcaaagtcactgctctga	8	9	3	2	rs782477771	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.6008C>T	p.Thr2003Met	p.T2003M	ENST00000262854	45/84	49	43	6	58			HUWE1,missense_variant,p.T2003M,ENST00000342160,,c.6008C>T,MODERATE,YES,,possibly_damaging(0.551),-1;HUWE1,missense_variant,p.T2003M,ENST00000262854,NM_031407.6,c.6008C>T,MODERATE,,,possibly_damaging(0.551),-1;HUWE1,missense_variant,p.T1994M,ENST00000612484,,c.5981C>T,MODERATE,,,possibly_damaging(0.454),-1	A	ENST00000262854	Transcript	missense_variant	missense_variant	6411/14739	6008/13125	2003/4374	T/M	aCg/aTg	rs782477771	1		-1	HUWE1	HGNC	HGNC:30892	protein_coding		CCDS35301.1	ENSP00000262854	Q7Z6Z7	A0A024R9W5	UPI00004A0DAC	NM_031407.6		possibly_damaging(0.551)	45/84																			MODERATE		SNV	1			1	1.647e-05	1.179e-05	0	0	0	0	2.159e-05	0	0		PASS	ACTGCGTATCA	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3845059;COSM3845060	True	Unknown	A	3	1	80	53575665	53575665	G	A	1	0	0	0	0	1	0	0	0	7357	1145	40	1		1	HUWE1	23	53575665	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	5949190	53575665	102465230	494	1667											
RGAG4	340526	BI	GRCh38	chrX	72129931	72129931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttggcgttgtcctaaaCgacctgtgcggcgaatcagt	12	10	1	0	rs373524278	byCluster;byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1610G>A	p.Arg537His	p.R537H	ENST00000479991	1/2	35	30	5	36			RGAG4,missense_variant,p.R537H,ENST00000609883,NM_001024455.3,c.1610G>A,MODERATE,YES,tolerated_low_confidence(0.16),unknown(0),-1;NHSL2,upstream_gene_variant,,ENST00000373677,,,MODIFIER,,,,1;NHSL2,upstream_gene_variant,,ENST00000510661,,,MODIFIER,YES,,,1;RGAG4,missense_variant,p.R537H,ENST00000479991,,c.1610G>A,MODERATE,,tolerated_low_confidence(0.16),unknown(0),-1;RP11-262D11.1,upstream_gene_variant,,ENST00000513469,,,MODIFIER,YES,,,1	T	ENST00000479991	Transcript	missense_variant	missense_variant;NMD_transcript_variant	1971/4339	1610/1710	537/569	R/H	cGt/cAt	rs373524278	1		-1	RGAG4	HGNC	HGNC:29430	nonsense_mediated_decay		CCDS55446.1	ENSP00000418667	Q5HYW3		UPI00001C2079		tolerated_low_confidence(0.16)	unknown(0)	1/2										0.0012	0								MODERATE		SNV	1			1	2.482e-05	3.48e-05	0.0003835	0	0	0	0	0	0		PASS	CTAAACGACCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	T	3	4	80	72129931	72129931	C	T	1	0	0	0	0	1	0	0	0	13447	536	19	1		1	RGAG4	23	72129931	Missense_Mutation	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	18554266	72129931	83910964	495	1668											
RGAG4	340526	BI	GRCh38	chrX	72130982	72130982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcagaaaggccacccGctcggcgcccccggggaaat	14	14	1	2			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.559C>T	p.Arg187Trp	p.R187W	ENST00000479991	1/2	54	48	6	66			RGAG4,missense_variant,p.R187W,ENST00000609883,NM_001024455.3,c.559C>T,MODERATE,YES,tolerated(0.06),probably_damaging(0.993),-1;NHSL2,upstream_gene_variant,,ENST00000373677,,,MODIFIER,,,,1;NHSL2,upstream_gene_variant,,ENST00000510661,,,MODIFIER,YES,,,1;RGAG4,missense_variant,p.R187W,ENST00000479991,,c.559C>T,MODERATE,,tolerated(0.06),probably_damaging(0.993),-1;RP11-262D11.1,upstream_gene_variant,,ENST00000513469,,,MODIFIER,YES,,,1	A	ENST00000479991	Transcript	missense_variant	missense_variant;NMD_transcript_variant	920/4339	559/1710	187/569	R/W	Cgg/Tgg		1		-1	RGAG4	HGNC	HGNC:29430	nonsense_mediated_decay		CCDS55446.1	ENSP00000418667	Q5HYW3		UPI00001C2079		tolerated(0.06)	probably_damaging(0.993)	1/2																			MODERATE		SNV	1			1											PASS	CACCCGCTCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM3096051	True	Unknown	A	3	1	80	72130982	72130982	G	A	1	0	0	0	0	1	0	0	0	13447	1086	38	2		2	RGAG4	23	72130982	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1051	72130982	83909913	496	1669											
ERCC6L	54821	BI	GRCh38	chrX	72207249	72207249	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agatgagtaactgtcccatcGattcgcaatgtcttaaagtg	9	8	1	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1518C>T	p.=	p.I506I	ENST00000334463	2/2	91	69	22	142			ERCC6L,synonymous_variant,p.I383I,ENST00000373657,,c.1149C>T,LOW,,,,-1;ERCC6L,synonymous_variant,p.I506I,ENST00000334463,NM_017669.2,c.1518C>T,LOW,YES,,,-1;PIN4,intron_variant,,ENST00000423432,NM_001170747.1,c.312+10345G>A,MODIFIER,,,,1;PIN4,intron_variant,,ENST00000496835,,c.258+10345G>A,MODIFIER,,,,1;PIN4,intron_variant,,ENST00000439980,,c.258+10345G>A,MODIFIER,,,,1	A	ENST00000334463	Transcript	synonymous_variant	synonymous_variant	1654/4243	1518/3753	506/1250	I	atC/atT		1		-1	ERCC6L	HGNC	HGNC:20794	protein_coding	YES	CCDS35329.1	ENSP00000334675	Q2NKX8		UPI000021233E	NM_017669.2			2/2		Pfam_domain:PF00271;PROSITE_profiles:PS51194;SMART_domains:SM00490;Superfamily_domains:SSF52540																	LOW	1	SNV	1			1											PASS	CCATCGATTCG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	2	1	80	72207249	72207249	G	A	1	0	0	0	0	0	0	0	1	5067	1048	37	2		2	ERCC6L	23	72207249	Silent	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	76267	72207249	83833646	497	1670											
SLC16A2	6567	BI	GRCh38	chrX	74531383	74531383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtggccttctactttgccGgtgtgccccccatcatcggg	11	14	2	0	rs752570148		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.1450G>A	p.Gly484Ser	p.G484S	ENST00000587091	6/6	65	33	32	61			SLC16A2,missense_variant,p.G484S,ENST00000587091,NM_006517.4,c.1450G>A,MODERATE,YES,deleterious(0),probably_damaging(1),1;SLC16A2,synonymous_variant,p.P221P,ENST00000590447,,c.661G>A,LOW,,,,1	A	ENST00000587091	Transcript	missense_variant	missense_variant	1627/4161	1450/1620	484/539	G/S	Ggt/Agt	rs752570148	1		1	SLC16A2	HGNC	HGNC:10923	protein_coding	YES	CCDS14426.2	ENSP00000465734	P36021			NM_006517.4	deleterious(0)	probably_damaging(1)	6/6		Transmembrane_helices:Tmhmm;Pfam_domain:PF07690;PROSITE_profiles:PS50850;Superfamily_domains:SSF103473																	MODERATE	1	SNV	1			1	8.237e-06	1.142e-05	0	0	0	0	2.085e-05	0	0		PASS	TTGCCGGTGTG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	74531383	74531383	G	A	1	0	0	0	0	1	0	0	0	14674	1116	39	2		2	SLC16A2	23	74531383	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	2324134	74531383	81509512	498	1671											
PGAM4	441531	BI	GRCh38	chrX	77969172	77969172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcaatagtatccttcGgactctcataggagggtagc	11	10	2	0	rs782085897	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.467C>T	p.Pro156Leu	p.P156L	ENST00000458128	1/1	104	84	20	165			PGAM4,missense_variant,p.P156L,ENST00000458128,NM_001029891.2,c.467C>T,MODERATE,YES,tolerated(1),benign(0),-1;ATP7A,intron_variant,,ENST00000341514,NM_000052.6,c.-21-2449G>A,MODIFIER,YES,,,1;ATP7A,intron_variant,,ENST00000343533,NM_001282224.1,c.-21-2449G>A,MODIFIER,,,,1;ATP7A,intron_variant,,ENST00000350425,,c.-21-2449G>A,MODIFIER,,,,1;RP5-1000K24.2,downstream_gene_variant,,ENST00000602791,,,MODIFIER,YES,,,1	A	ENST00000458128	Transcript	missense_variant	missense_variant	467/765	467/765	156/254	P/L	cCg/cTg	rs782085897	1		-1	PGAM4	HGNC	HGNC:21731	protein_coding	YES	CCDS35338.1	ENSP00000412189	Q8N0Y7		UPI0000131CD2	NM_001029891.2	tolerated(1)	benign(0)	1/1		Pfam_domain:PF00300;TIGRFAM_domain:TIGR01258;SMART_domains:SM00855;Superfamily_domains:SSF53254																	MODERATE		SNV				1	2.471e-05	2.293e-05	0.0001206	0	0	0	0	0	9.877e-05		PASS	CCTTCGGACTC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	77969172	77969172	G	A	1	0	0	0	0	1	0	0	0	11865	1116	39	2		2	PGAM4	23	77969172	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	3437789	77969172	78071723	499	1672											
PCDH19	57526	BI	GRCh38	chrX	100407744	100407744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctgaaagagctcgcgcGtgcggtcgttgacgtagcca	14	11	1	3	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.854C>T	p.Thr285Met	p.T285M	ENST00000373034	1/6	84	64	20	90			PCDH19,missense_variant,p.T285M,ENST00000373034,NM_001184880.1,c.854C>T,MODERATE,YES,deleterious(0.01),possibly_damaging(0.82),-1;PCDH19,missense_variant,p.T285M,ENST00000255531,NM_001105243.1,c.854C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.857),-1;PCDH19,missense_variant,p.T285M,ENST00000420881,NM_020766.2,c.854C>T,MODERATE,,deleterious(0.01),possibly_damaging(0.752),-1	A	ENST00000373034	Transcript	missense_variant	missense_variant	2530/9756	854/3447	285/1148	T/M	aCg/aTg		1		-1	PCDH19	HGNC	HGNC:14270	protein_coding	YES	CCDS55462.1	ENSP00000362125	Q8TAB3		UPI00001D7BCD	NM_001184880.1	deleterious(0.01)	possibly_damaging(0.82)	1/6		Pfam_domain:PF00028;PROSITE_profiles:PS50268;SMART_domains:SM00112;Superfamily_domains:SSF49313																	MODERATE	1	SNV	1			1											PASS	CGCGCGTGCGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a			True	Unknown	A	3	1	80	100407744	100407744	G	A	1	0	0	0	0	1	0	0	0	11601	1145	40	1		1	PCDH19	23	100407744	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	22438572	100407744	55633151	500	1673											
ARMCX1	51309	BI	GRCh38	chrX	101553027	101553027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gactggcttggggaagagacGagaacgagaaaatctgggac	16	6	1	3			TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.97G>A	p.Glu33Lys	p.E33K	ENST00000372829	4/4	35	32	3	43			ARMCX1,missense_variant,p.E33K,ENST00000372829,NM_016608.1,c.97G>A,MODERATE,YES,tolerated_low_confidence(0.06),benign(0.122),1;ARMCX1,missense_variant,p.E33K,ENST00000616751,,c.97G>A,MODERATE,,deleterious(0.04),benign(0.242),1	A	ENST00000372829	Transcript	missense_variant	missense_variant	468/2141	97/1362	33/453	E/K	Gag/Aag		1		1	ARMCX1	HGNC	HGNC:18073	protein_coding	YES	CCDS14487.1	ENSP00000361917	Q9P291	A0A024RCI6	UPI00000411D9	NM_016608.1	tolerated_low_confidence(0.06)	benign(0.122)	4/4																			MODERATE	1	SNV	1			1											PASS	GAGACGAGAAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4606486	True	Unknown	A	3	1	80	101553027	101553027	G	A	1	0	0	0	0	1	0	0	0	1100	1059	37	2		2	ARMCX1	23	101553027	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	1145283	101553027	54487868	501	1674											
ZMAT1	84460	BI	GRCh38	chrX	101904329	101904329	+	Splice_Region	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttcattccaaatggcGtctgtgaataaaaaagggaa	9	7	2	1	rs141888312	byCluster	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.123C>T	p.=	p.D41D	ENST00000372782	3/7	19	14	5	40			ZMAT1,splice_region_variant,p.D41D,ENST00000372782,NM_001011657.3,c.123C>T,LOW,YES,,,-1;ZMAT1,splice_region_variant,p.D41D,ENST00000540921,,c.123C>T,LOW,,,,-1;ZMAT1,splice_region_variant,,ENST00000458570,,n.317C>T,LOW,,,,-1;ZMAT1,splice_region_variant,,ENST00000488347,,n.313C>T,LOW,,,,-1	A	ENST00000372782	Transcript	splice_region_variant	splice_region_variant;synonymous_variant	171/3185	123/1917	41/638	D	gaC/gaT	rs141888312	1		-1	ZMAT1	HGNC	HGNC:29377	protein_coding	YES	CCDS35348.1	ENSP00000361868	Q5H9K5		UPI0001DD37FB	NM_001011657.3			3/7										0	3e-04								LOW	1	SNV	1			1	1.647e-05	1.248e-05	0	0	0	0	2.285e-05	0	0		PASS	ATGGCGTCTGT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1464454	True	Unknown	A	5	1	80	101904329	101904329	G	A	1	0	0	0	0	0	0	1	0	18271	1159	40	1		1	ZMAT1	23	101904329	Splice_Region	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	351302	101904329	54136566	502	1675											
SEPT6	23157	BI	GRCh38	chrX	119640778	119640778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccaatgacagcaaacGgcaggtgggcctgaaaccga	13	11	0	2	rs764588243		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.701C>T	p.Pro234Leu	p.P234L	ENST00000343984	6/10	57	37	20	73			SEPT6,missense_variant,p.P234L,ENST00000394610,NM_145799.3,c.701C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000354416,,c.701C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000343984,NM_015129.5,c.701C>T,MODERATE,YES,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000360156,NM_145800.3,c.701C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000489216,,c.701C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000354228,NM_145802.3,c.701C>T,MODERATE,,deleterious(0.02),probably_damaging(1),-1;SEPT6,missense_variant,p.P234L,ENST00000460411,,c.701C>T,MODERATE,,deleterious(0.01),probably_damaging(0.954),-1	A	ENST00000343984	Transcript	missense_variant	missense_variant	966/2693	701/1305	234/434	P/L	cCg/cTg	rs764588243	1		-1	SEPT6	HGNC	HGNC:15848	protein_coding	YES	CCDS14584.1	ENSP00000341524	Q14141		UPI0000001C54	NM_015129.5	deleterious(0.02)	probably_damaging(1)	6/10		Pfam_domain:PF00735;Superfamily_domains:SSF52540;PIRSF_domain:PIRSF006698																	MODERATE	1	SNV	1			1	8.237e-06	1.15e-05	0	0	0	0	2.101e-05	0	0		PASS	CAAACGGCAGG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM4972215;COSM4972216;COSM4972217	True	Unknown	A	3	1	80	119640778	119640778	G	A	1	0	0	0	0	1	0	0	0	14344	1116	39	2		2	SEPT6	23	119640778	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	17736449	119640778	36400117	503	1676											
FAM127A	8933	BI	GRCh38	chrX	135032488	135032488	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccgagacgtttgacggCgataccgaccgactcccgga	11	14	0	2	novel		TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.105C>T	p.=	p.G35G	ENST00000257013	1/1	93	76	17	128			FAM127A,synonymous_variant,p.G35G,ENST00000257013,NM_001078171.1,c.105C>T,LOW,YES,,,1;FAM127A,non_coding_transcript_exon_variant,,ENST00000464369,,n.107C>T,MODIFIER,,,,1;FAM127A,non_coding_transcript_exon_variant,,ENST00000495563,,n.107C>T,MODIFIER,,,,1	T	ENST00000257013	Transcript	synonymous_variant	synonymous_variant	123/1181	105/342	35/113	G	ggC/ggT		1		1	FAM127A	HGNC	HGNC:2569	protein_coding	YES	CCDS43997.1	ENSP00000257013	A6ZKI3		UPI00000373C5	NM_001078171.1			1/1																			LOW	1	SNV				1											panel_of_normals	GACGGCGATAC	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	135032488	135032488	C	T	1	0	0	0	0	0	0	0	1	5283	755	27	2		2	FAM127A	23	135032488	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	15391710	135032488	21008407	504	1677											
GPR101	83550	BI	GRCh38	chrX	137030802	137030802	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactactctcactggtcccCgtgcttccttccttggcctt	6	17	1	0	rs754757908	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.873G>A	p.=	p.T291T	ENST00000298110	1/1	90	51	39	107			GPR101,synonymous_variant,p.T291T,ENST00000298110,NM_054021.1,c.873G>A,LOW,YES,,,-1	T	ENST00000298110	Transcript	synonymous_variant	synonymous_variant	873/1527	873/1527	291/508	T	acG/acA	rs754757908	1		-1	GPR101	HGNC	HGNC:14963	protein_coding	YES	CCDS14662.1	ENSP00000298110	Q96P66		UPI000003BCCD	NM_054021.1			1/1		Low_complexity_(Seg):Seg;Pfam_domain:PF00001;PROSITE_profiles:PS50262;Superfamily_domains:SSF81321																	LOW	1	SNV				1	1.647e-05	1.14e-05	0	0	0	0	2.084e-05	0	0		panel_of_normals	GTCCCCGTGCT	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a	gdc_pon		True	Unknown	T	2	4	80	137030802	137030802	C	T	1	0	0	0	0	0	0	0	1	6524	639	23	2		2	GPR101	23	137030802	Silent	SNP	C	TCGA-YZ-A985-01A-11D-A39W-08	1998314	137030802	19010093	505	1678											
CNGA2	1260	BI	GRCh38	chrX	151739704	151739704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagggggatggcaaaggcGacaaggatggcgaggacaaa	19	5	0	0	rs748063457	byFrequency	TCGA-YZ-A985-01A-11D-A39W-08	TCGA-YZ-A985-10A-01D-A39Z-08									Somatic						Illumina HiSeq 2000	7a3d6a96-9d0b-469d-9768-afd80542777e	5b1bd7f5-b12a-4803-a6ed-fa4016ed06fe	c.346G>A	p.Asp116Asn	p.D116N	ENST00000329903	3/6	58	44	14	89			CNGA2,missense_variant,p.D116N,ENST00000329903,NM_005140.1,c.346G>A,MODERATE,YES,tolerated(0.41),benign(0.099),1	A	ENST00000329903	Transcript	missense_variant	missense_variant	379/2834	346/1995	116/664	D/N	Gac/Aac	rs748063457	1		1	CNGA2	HGNC	HGNC:2149	protein_coding	YES	CCDS14701.1	ENSP00000328478	Q16280		UPI000003E7AE	NM_005140.1	tolerated(0.41)	benign(0.099)	3/6		Low_complexity_(Seg):Seg																	MODERATE	1	SNV	1			1	1.647e-05	1.149e-05	0	0	0	0	2.091e-05	0	0		PASS	AAGGCGACAAG	d64311b6-6dc5-4ea2-9ccc-0410c95a2424	19494837-3460-4f6e-bb12-99acbaefed99	def036f7-97e7-478e-820d-019437b00175	ebdabfcb-1c68-4ca1-8b7f-3ea9cdac3a6a		COSM1715796	True	Unknown	A	3	1	80	151739704	151739704	G	A	1	0	0	0	0	1	0	0	0	3377	1058	37	2		2	CNGA2	23	151739704	Missense_Mutation	SNP	G	TCGA-YZ-A985-01A-11D-A39W-08	14708902	151739704	4301191	506	1679											
