#Uploaded_variation	Location	Allele	Gene	Feature	Feature_type	Consequence	cDNA_position	CDS_position	Protein_position	Amino_acids	Codons	Existing_variation	Extra
TCGA-R2-A69V-01A-11D-A32I-09	1:15807647-15807647	A	ENSG00000233954	ENST00000483273	Transcript	start_lost	1702	3	1	M/I	atG/atT	-	IMPACT=HIGH;SYMBOL=UQCRHL;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:51714;APPRIS=P1;SIFT=tolerated(0.07);PolyPhen=benign(0.024)
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000592234	Transcript	coding_sequence_variant,NMD_transcript_variant	1	3	1	X	nnC/nnT	-	IMPACT=MODIFIER;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=1/6;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000601322	Transcript	missense_variant	1	1	1	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=3;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.996)
TCGA-RA-A741-01A-11D-A33O-09	3:40457472-40457472	A	ENSG00000188846	ENST00000396203	Transcript	start_lost,splice_region_variant	133	1	1	L/M	Ctg/Atg	-	IMPACT=HIGH;SYMBOL=RPL14;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10305;TSL=1;APPRIS=P1
TCGA-RA-A741-01A-11D-A33O-09	3:40457472-40457472	A	ENSG00000188846	ENST00000416518	Transcript	start_lost,splice_region_variant	119	1	1	L/M	Ctg/Atg	-	IMPACT=HIGH;SYMBOL=RPL14;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10305;TSL=3
TCGA-RA-A741-01A-11D-A33O-09	3:40457472-40457472	A	ENSG00000188846	ENST00000435633	Transcript	start_lost,NMD_transcript_variant	110	1	1	L/M	Ctg/Atg	-	IMPACT=HIGH;SYMBOL=RPL14;BIOTYPE=nonsense_mediated_decay;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10305;TSL=2
TCGA-FU-A3YQ-01A-11D-A22X-09	5:33891856-33891856	A	ENSG00000151388	ENST00000352040	Transcript	synonymous_variant	86	1	1	L	Ctg/Ttg	rs774039913	IMPACT=LOW;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=1/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=A2;ExAC_MAF=A:1.647e-05;ExAC_Adj_MAF=A:1.652e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.007e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3YQ-01A-11D-A22X-09	5:33891856-33891856	A	ENSG00000151388	ENST00000504830	Transcript	synonymous_variant	337	1	1	L	Ctg/Ttg	rs774039913	IMPACT=LOW;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=1/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=P2;ExAC_MAF=A:1.647e-05;ExAC_Adj_MAF=A:1.652e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.007e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3YQ-01A-11D-A22X-09	5:33891856-33891856	A	ENSG00000151388	ENST00000515401	Transcript	synonymous_variant	164	1	1	L	Ctg/Ttg	rs774039913	IMPACT=LOW;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;ExAC_MAF=A:1.647e-05;ExAC_Adj_MAF=A:1.652e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.007e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EA-A43B-01A-81D-A243-09	X:17744187-17744187	T	ENSG00000047634	ENST00000380041	Transcript	synonymous_variant	329	1	1	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=SCML1;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10580;TSL=5;APPRIS=A2
TCGA-EA-A43B-01A-81D-A243-09	X:17744187-17744187	T	ENSG00000047634	ENST00000380043	Transcript	synonymous_variant	329	1	1	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=SCML1;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10580;TSL=1;APPRIS=P3
TCGA-EA-A43B-01A-81D-A243-09	X:17744187-17744187	T	ENSG00000047634	ENST00000419185	Transcript	synonymous_variant	375	1	1	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=SCML1;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10580;TSL=3
TCGA-JW-A5VJ-01A-11D-A28B-09	19:53014094-53014094	T	ENSG00000269526	ENST00000602168	Transcript	missense_variant	174	4	2	A/S	Gca/Tca	-	IMPACT=MODERATE;SYMBOL=ERVV-1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26501;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.903)
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000397556	Transcript	missense_variant	129	8	3	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=2/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=1
TCGA-EA-A410-01A-11D-A243-09	5:9630023-9630024	-	ENSG00000169777	ENST00000382492	Transcript	frameshift_variant	332	9	3	E/X	gaA/ga	-	IMPACT=HIGH;SYMBOL=TAS2R1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14909;APPRIS=P1
TCGA-JX-A3PZ-01A-11D-A21Q-09	1:196977674-196977674	A	ENSG00000134389	ENST00000256785	Transcript	missense_variant	119	10	4	V/I	Gta/Ata	-	IMPACT=MODERATE;SYMBOL=CFHR5;BIOTYPE=protein_coding;EXON=1/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24668;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.981)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000320619	Transcript	missense_variant	645	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.979)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000335325	Transcript	missense_variant	652	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000566250	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.981)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000567962	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000320619	Transcript	missense_variant	645	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.979)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000335325	Transcript	missense_variant	652	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000566250	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.981)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000567962	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000320619	Transcript	missense_variant	645	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.979)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000335325	Transcript	missense_variant	652	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000566250	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.981)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000567962	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000320619	Transcript	missense_variant	645	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.979)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000335325	Transcript	missense_variant	652	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000566250	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.981)
TCGA-DS-A0VL-01A-21D-A10S-08	16:74999681-74999681	G	ENSG00000186187	ENST00000567962	Transcript	missense_variant	337	10	4	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=ZNRF1;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18452;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.956)
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000583325	Transcript	synonymous_variant	455	12	4	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5
TCGA-C5-A7CO-01A-11D-A351-09	19:726146-726146	T	ENSG00000099864	ENST00000586055	Transcript	missense_variant	567	11	4	A/V	gCg/gTg	rs372771354	IMPACT=MODERATE;SYMBOL=PALM;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8594;TSL=4;PolyPhen=unknown(0);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=A:3.295e-05,T:1.565e-04;ExAC_Adj_MAF=A:3.326e-05,T:0.000158;ExAC_AFR_MAF=A:0,T:0;ExAC_AMR_MAF=A:0,T:8.655e-05;ExAC_EAS_MAF=A:0,T:0.0001161;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:6.076e-05,T:0.0001063;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0.0006088
TCGA-EX-A449-01A-11D-A243-09	19:5788165-5788165	T	ENSG00000141994	ENST00000591560	Transcript	synonymous_variant,NMD_transcript_variant	12	12	4	L	ctG/ctA	rs148148687	IMPACT=LOW;SYMBOL=DUS3L;BIOTYPE=nonsense_mediated_decay;EXON=1/7;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=5;GMAF=G:0.0058;AFR_MAF=G:0.0219;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0098;EA_MAF=G:0.0001;ExAC_MAF=G:1.128e-03;ExAC_Adj_MAF=G:0.001133;ExAC_AFR_MAF=G:0.01301;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.04e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.058e-05
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000286955	Transcript	synonymous_variant	1065	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=1;APPRIS=P2
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000318336	Transcript	synonymous_variant	1207	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=2;APPRIS=P2
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000524754	Transcript	synonymous_variant	652	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=1;APPRIS=P2
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000527106	Transcript	synonymous_variant	281	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=1;APPRIS=P2
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000528505	Transcript	synonymous_variant	448	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=4
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000529165	Transcript	synonymous_variant	301	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=2
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000531085	Transcript	synonymous_variant	487	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=5
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000531199	Transcript	synonymous_variant	376	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=5
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000532464	Transcript	synonymous_variant	408	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=4
TCGA-EK-A2R7-01A-11D-A18J-09	19:5832556-5832556	A	ENSG00000156413	ENST00000592563	Transcript	synonymous_variant	12	12	4	L	ctA/ctT	rs747048069	IMPACT=LOW;SYMBOL=FUT6;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4017;TSL=1;APPRIS=A2
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000424361	Transcript	missense_variant	261	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000436220	Transcript	missense_variant	252	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000424361	Transcript	missense_variant	261	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000436220	Transcript	missense_variant	252	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000424361	Transcript	missense_variant	261	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000436220	Transcript	missense_variant	252	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000424361	Transcript	missense_variant	261	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000436220	Transcript	missense_variant	252	11	4	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-EK-A2RK-01A-11D-A18J-09	9:27109601-27109601	A	ENSG00000120156	ENST00000380036	Transcript	stop_retained_variant	453	11	4	*	tGa/tAa	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=1/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=1;APPRIS=P1
TCGA-EK-A2RK-01A-11D-A18J-09	9:27109601-27109601	A	ENSG00000120156	ENST00000406359	Transcript	stop_retained_variant	186	11	4	*	tGa/tAa	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=1/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-EK-A2RK-01A-11D-A18J-09	9:27109601-27109601	A	ENSG00000120156	ENST00000519080	Transcript	stop_retained_variant	149	11	4	*	tGa/tAa	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=1/10;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=1
TCGA-EK-A2RK-01A-11D-A18J-09	9:27109601-27109601	A	ENSG00000120156	ENST00000519097	Transcript	stop_retained_variant	461	11	4	*	tGa/tAa	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=1/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-EK-A2RK-01A-11D-A18J-09	9:27109601-27109601	A	ENSG00000120156	ENST00000615002	Transcript	stop_retained_variant	453	11	4	*	tGa/tAa	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=1/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=5
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000578754	Transcript	missense_variant	209	13	5	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=4;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.994)
TCGA-C5-A7CO-01A-11D-A351-09	19:726146-726146	T	ENSG00000099864	ENST00000264560	Transcript	missense_variant	222	14	5	A/V	gCg/gTg	rs372771354	IMPACT=MODERATE;SYMBOL=PALM;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8594;TSL=4;APPRIS=A2;SIFT=tolerated(0.41);PolyPhen=benign(0.006);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=A:3.295e-05,T:1.565e-04;ExAC_Adj_MAF=A:3.326e-05,T:0.000158;ExAC_AFR_MAF=A:0,T:0;ExAC_AMR_MAF=A:0,T:8.655e-05;ExAC_EAS_MAF=A:0,T:0.0001161;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:6.076e-05,T:0.0001063;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0.0006088
TCGA-C5-A7CO-01A-11D-A351-09	19:726146-726146	T	ENSG00000099864	ENST00000338448	Transcript	missense_variant	60	14	5	A/V	gCg/gTg	rs372771354	IMPACT=MODERATE;SYMBOL=PALM;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8594;TSL=1;APPRIS=P4;SIFT=tolerated_low_confidence(0.39);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=A:3.295e-05,T:1.565e-04;ExAC_Adj_MAF=A:3.326e-05,T:0.000158;ExAC_AFR_MAF=A:0,T:0;ExAC_AMR_MAF=A:0,T:8.655e-05;ExAC_EAS_MAF=A:0,T:0.0001161;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:6.076e-05,T:0.0001063;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0.0006088
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000414431	Transcript	missense_variant	272	14	5	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000435857	Transcript	missense_variant	404	14	5	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000446474	Transcript	missense_variant	415	14	5	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000611469	Transcript	missense_variant	513	14	5	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=4;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.75)
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000616803	Transcript	stop_gained,NMD_transcript_variant	13	13	5	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=nonsense_mediated_decay;EXON=1/8;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-HG-A2PA-01A-11D-A20U-09	11:695769-695769	C	ENSG00000177042	ENST00000397512	Transcript	missense_variant	127	17	6	R/P	cGa/cCa	rs755852416,COSM4823626	IMPACT=MODERATE;SYMBOL=TMEM80;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27453;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0.02);PolyPhen=unknown(0);ExAC_MAF=A:1.460e-04;ExAC_Adj_MAF=A:0;ExAC_AFR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1;PHENO=0,1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000602627	Transcript	stop_lost	15	16	6	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=3;SOMATIC=1;PHENO=1
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000592059	Transcript	missense_variant	389	16	6	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=4;SIFT=tolerated(0.18);PolyPhen=benign(0.034)
TCGA-DG-A2KM-01A-11D-A17W-09	1:203797541-203797541	G	ENSG00000257315	ENST00000550078	Transcript	missense_variant	1233	19	7	R/G	Cgt/Ggt	-	IMPACT=MODERATE;SYMBOL=ZBED6;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33273;APPRIS=P1;SIFT=tolerated_low_confidence(0.07);PolyPhen=benign(0.015)
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000318562	Transcript	missense_variant	273	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=1;APPRIS=P2;SIFT=tolerated_low_confidence(0.46);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000524763	Transcript	missense_variant	283	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=3;SIFT=tolerated(0.47);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000526198	Transcript	missense_variant	59	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=1/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.41);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000526909	Transcript	missense_variant,NMD_transcript_variant	162	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=nonsense_mediated_decay;EXON=2/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=5;SIFT=tolerated_low_confidence(0.25);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000527199	Transcript	missense_variant	483	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=3;SIFT=tolerated_low_confidence(0.21);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000530636	Transcript	missense_variant	270	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=1;APPRIS=P2;SIFT=tolerated_low_confidence(0.46);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000531348	Transcript	missense_variant	316	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=2;SIFT=tolerated_low_confidence(0.46);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000533256	Transcript	missense_variant	394	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=3/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=5;APPRIS=P2;SIFT=tolerated_low_confidence(0.46);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000533500	Transcript	missense_variant	355	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=3;SIFT=tolerated(0.4);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000534755	Transcript	missense_variant	254	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=4;SIFT=tolerated(0.42);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	11:709426-709426	C	ENSG00000177106	ENST00000614442	Transcript	missense_variant	266	19	7	V/L	Gtg/Ctg	rs558489382,COSM4828441,COSM5138000	IMPACT=MODERATE;SYMBOL=EPS8L2;BIOTYPE=protein_coding;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21296;TSL=5;APPRIS=A2;SIFT=tolerated_low_confidence(0.41);PolyPhen=benign(0.001);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=A:2.496e-05,T:8.319e-06;ExAC_Adj_MAF=A:5.917e-05,T:1.972e-05;ExAC_AFR_MAF=A:0,T:0.0002082;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0.0002698,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:7.312e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000343820	Transcript	missense_variant	807	21	7	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=1;APPRIS=P1;SIFT=tolerated_low_confidence(0.43);PolyPhen=benign(0.003)
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000407501	Transcript	missense_variant	378	21	7	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=3;APPRIS=P1;SIFT=tolerated_low_confidence(0.43);PolyPhen=benign(0.003)
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000546979	Transcript	missense_variant	221	21	7	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=3;SIFT=tolerated_low_confidence(0.35);PolyPhen=benign(0.002)
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000551402	Transcript	missense_variant	334	21	7	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=2;SIFT=tolerated_low_confidence(0.14);PolyPhen=benign(0.208)
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000577543	Transcript	missense_variant	299	21	7	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=3;SIFT=tolerated_low_confidence(0.27);PolyPhen=benign(0.045)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000589473	Transcript	missense_variant	20	20	7	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=3;SIFT=deleterious(0.01);PolyPhen=benign(0.381)
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000590623	Transcript	missense_variant	652	19	7	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=9/10;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=5;SIFT=tolerated_low_confidence(0.14);PolyPhen=benign(0.009);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000592621	Transcript	missense_variant	471	19	7	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=5;SIFT=deleterious_low_confidence(0.05);PolyPhen=benign(0.009);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-FU-A3TX-01A-11D-A22X-09	17:36486721-36486721	T	ENSG00000273611	ENST00000617429	Transcript	missense_variant	87	22	8	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=ZNHIT3;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12309;TSL=1;APPRIS=P1;SIFT=tolerated_low_confidence(0.22);PolyPhen=benign(0.024)
TCGA-FU-A3TX-01A-11D-A22X-09	17:36486721-36486721	T	ENSG00000273611	ENST00000620324	Transcript	missense_variant	27	22	8	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=ZNHIT3;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12309;TSL=2;SIFT=tolerated_low_confidence(0.13);PolyPhen=benign(0.102)
TCGA-FU-A3TX-01A-11D-A22X-09	17:36486721-36486721	T	ENSG00000273611	ENST00000620863	Transcript	missense_variant,NMD_transcript_variant	22	22	8	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=ZNHIT3;BIOTYPE=nonsense_mediated_decay;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12309;TSL=2;SIFT=tolerated(0.26);PolyPhen=benign(0.004)
TCGA-FU-A3TX-01A-11D-A22X-09	17:36486721-36486721	T	ENSG00000273611	ENST00000622312	Transcript	missense_variant,NMD_transcript_variant	28	22	8	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=ZNHIT3;BIOTYPE=nonsense_mediated_decay;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12309;TSL=4;SIFT=tolerated_low_confidence(0.13);PolyPhen=possibly_damaging(0.486)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000291572	Transcript	missense_variant	294	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000327505	Transcript	missense_variant	200	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000398058	Transcript	missense_variant	949	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000398061	Transcript	missense_variant	206	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000398063	Transcript	missense_variant	515	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000422850	Transcript	missense_variant	259	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000445582	Transcript	missense_variant	221	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000448287	Transcript	missense_variant	239	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000448845	Transcript	missense_variant	300	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000457068	Transcript	missense_variant	180	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R7-01A-11D-A18J-09	21:43959704-43959704	C	ENSG00000160216	ENST00000546158	Transcript	missense_variant	766	23	8	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=AGPAT3;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:326;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-FU-A57G-01A-11D-A26G-09	5:766931-766931	A	ENSG00000206077	ENST00000508859	Transcript	missense_variant	22	22	8	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=ZDHHC11B;BIOTYPE=protein_coding;EXON=1/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:32962;TSL=5;APPRIS=P5
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000382538	Transcript	missense_variant	121	26	9	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=2/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-EX-A1H6-01B-11D-A22X-09	19:1242530-1242530	T	ENSG00000099624	ENST00000591249	Transcript	synonymous_variant	26	27	9	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=ATP5D;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:837;TSL=5
TCGA-WL-A834-01A-11D-A351-09	19:3885794-3885794	C	ENSG00000167654	ENST00000450849	Transcript	synonymous_variant	494	27	9	R	cgT/cgC	-	IMPACT=LOW;SYMBOL=ATCAY;BIOTYPE=protein_coding;EXON=2/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:779;TSL=1;APPRIS=P2
TCGA-WL-A834-01A-11D-A351-09	19:3885794-3885794	C	ENSG00000167654	ENST00000597739	Transcript	synonymous_variant,NMD_transcript_variant	392	27	9	R	cgT/cgC	-	IMPACT=LOW;SYMBOL=ATCAY;BIOTYPE=nonsense_mediated_decay;EXON=2/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:779;TSL=2
TCGA-WL-A834-01A-11D-A351-09	19:3885794-3885794	C	ENSG00000167654	ENST00000598136	Transcript	synonymous_variant	259	27	9	R	cgT/cgC	-	IMPACT=LOW;SYMBOL=ATCAY;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:779;TSL=4
TCGA-WL-A834-01A-11D-A351-09	19:3885794-3885794	C	ENSG00000167654	ENST00000600960	Transcript	synonymous_variant	27	27	9	R	cgT/cgC	-	IMPACT=LOW;SYMBOL=ATCAY;BIOTYPE=protein_coding;EXON=1/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:779;TSL=5;APPRIS=A2
TCGA-LP-A4AV-01A-11D-A243-09	6:76072464-76072464	T	ENSG00000112706	ENST00000369950	Transcript	missense_variant	215	25	9	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=IMPG1;BIOTYPE=protein_coding;EXON=1/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6055;TSL=1;APPRIS=P3
TCGA-LP-A4AV-01A-11D-A243-09	6:76072464-76072464	T	ENSG00000112706	ENST00000611179	Transcript	missense_variant	215	25	9	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=IMPG1;BIOTYPE=protein_coding;EXON=1/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6055;TSL=5;APPRIS=A2
TCGA-C5-A1BL-01A-11D-A13W-08	16:22132909-22132909	T	ENSG00000175267	ENST00000563389	Transcript	missense_variant	28	28	10	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=VWA3A;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27088;TSL=2;SIFT=tolerated(0.23);PolyPhen=benign(0.072)
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000593600	Transcript	missense_variant	30	31	11	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=1/6;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1M6-01A-11D-A13W-08	1:247588394-247588394	A	ENSG00000177489	ENST00000320065	Transcript	missense_variant	35	35	12	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=OR2G2;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15007;APPRIS=P1;SIFT=tolerated(0.34);PolyPhen=benign(0.016)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886715-9886715	A	ENSG00000168454	ENST00000357775	Transcript	missense_variant	270	35	12	A/E	gCg/gAg	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=1;APPRIS=P3
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886715-9886715	A	ENSG00000168454	ENST00000536353	Transcript	missense_variant	442	35	12	A/E	gCg/gAg	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886715-9886715	A	ENSG00000168454	ENST00000584255	Transcript	missense_variant	356	35	12	A/E	gCg/gAg	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=4
TCGA-DG-A2KK-01A-11D-A17W-09	9:19786828-19786828	T	ENSG00000155886	ENST00000286344	Transcript	synonymous_variant	101	39	13	E	gaG/gaA	COSM5410915	IMPACT=LOW;SYMBOL=SLC24A2;BIOTYPE=protein_coding;EXON=1/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10976;TSL=1;SOMATIC=1;PHENO=1
TCGA-DG-A2KK-01A-11D-A17W-09	9:19786828-19786828	T	ENSG00000155886	ENST00000341998	Transcript	synonymous_variant	101	39	13	E	gaG/gaA	COSM5410915	IMPACT=LOW;SYMBOL=SLC24A2;BIOTYPE=protein_coding;EXON=1/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10976;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-EA-A5ZF-01A-11D-A28B-09	9:38620249-38620249	T	ENSG00000180071	ENST00000399703	Transcript	missense_variant	412	37	13	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=ANKRD18A;BIOTYPE=protein_coding;EXON=1/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23643;TSL=1;APPRIS=P1;SIFT=tolerated(0.47);PolyPhen=benign(0.323)
TCGA-Q1-A73P-01A-11D-A32I-09	18:9792156-9792156	T	ENSG00000168461	ENST00000578734	Transcript	splice_region_variant,synonymous_variant,NMD_transcript_variant	173	42	14	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=RAB31;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9771;TSL=3
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886724-9886724	T	ENSG00000168454	ENST00000357775	Transcript	missense_variant	279	44	15	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=1;APPRIS=P3;SIFT=tolerated(0.63);PolyPhen=benign(0.042)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886724-9886724	T	ENSG00000168454	ENST00000536353	Transcript	missense_variant	451	44	15	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;SIFT=tolerated(1);PolyPhen=benign(0.042)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886724-9886724	T	ENSG00000168454	ENST00000584255	Transcript	missense_variant	365	44	15	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=4;SIFT=tolerated(1);PolyPhen=benign(0.042)
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000601623	Transcript	synonymous_variant	159	48	16	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=5
TCGA-FU-A23K-01A-11D-A16O-08	3:46717778-46717778	G	ENSG00000206549	ENST00000315170	Transcript	missense_variant	106	47	16	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=PRSS50;BIOTYPE=protein_coding;EXON=1/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17910;TSL=1;APPRIS=P1
TCGA-FU-A23K-01A-11D-A16O-08	3:46717778-46717778	G	ENSG00000206549	ENST00000460241	Transcript	missense_variant	1718	47	16	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=PRSS50;BIOTYPE=protein_coding;EXON=6/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17910;TSL=2;APPRIS=P1
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000579689	Transcript	missense_variant	54	54	18	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=2
TCGA-EA-A3HT-01A-61D-A21Q-09	19:3978083-3978083	A	ENSG00000167658	ENST00000600794	Transcript	synonymous_variant	52	54	18	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=EEF2;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3214;TSL=3
TCGA-EK-A2R8-01A-21D-A18J-09	9:4741035-4741035	C	ENSG00000147853	ENST00000381809	Transcript	missense_variant	284	53	18	S/W	tCg/tGg	rs773321603,COSM4822892	IMPACT=MODERATE;SYMBOL=AK3;BIOTYPE=protein_coding;EXON=1/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17376;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=C:8.317e-06;ExAC_Adj_MAF=C:0;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2R8-01A-21D-A18J-09	9:4741035-4741035	C	ENSG00000147853	ENST00000447596	Transcript	missense_variant	193	53	18	S/W	tCg/tGg	rs773321603,COSM4822892	IMPACT=MODERATE;SYMBOL=AK3;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17376;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=C:8.317e-06;ExAC_Adj_MAF=C:0;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000545076	Transcript	missense_variant,splice_region_variant	593	56	19	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=6/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000637651	Transcript	missense_variant,splice_region_variant,NMD_transcript_variant	648	56	19	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=nonsense_mediated_decay;EXON=4/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-DS-A0VK-01A-21D-A10S-08	19:2476585-2476585	T	ENSG00000099860	ENST00000587887	Transcript	missense_variant	133	56	19	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=GADD45B;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4096;TSL=1;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.829)
TCGA-DS-A0VK-01A-21D-A10S-08	19:2476585-2476585	T	ENSG00000099860	ENST00000593043	Transcript	missense_variant	230	56	19	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=GADD45B;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4096;TSL=1;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.829)
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000618001	Transcript	missense_variant	194	63	21	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=2;SIFT=tolerated_low_confidence(0.33);PolyPhen=benign(0.22)
TCGA-FU-A23L-01A-11D-A16O-08	7:27147688-27147688	A	ENSG00000106006	ENST00000222728	Transcript	missense_variant	87	62	21	S/F	tCc/tTc	rs762909337	IMPACT=MODERATE;SYMBOL=HOXA6;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5107;TSL=1;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.334e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.516e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EA-A5ZE-01A-11D-A28B-09	10:70404465-70404465	G	ENSG00000148730	ENST00000373218	Transcript	missense_variant	87	64	22	M/V	Atg/Gtg	-	IMPACT=MODERATE;SYMBOL=EIF4EBP2;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3289;TSL=1;APPRIS=P1
TCGA-EK-A2RB-01A-11D-A18J-09	19:2796129-2796129	T	ENSG00000172009	ENST00000586677	Transcript	stop_gained	123	64	22	E/*	Gag/Tag	-	IMPACT=HIGH;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=1/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=2
TCGA-EA-A439-01A-11D-A243-09	2:87017672-87017672	G	ENSG00000183281	ENST00000355705	Transcript	synonymous_variant	135	66	22	L	ctG/ctC	-	IMPACT=LOW;SYMBOL=PLGLB1;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9072;TSL=1;APPRIS=P1
TCGA-EA-A439-01A-11D-A243-09	2:87017672-87017672	G	ENSG00000183281	ENST00000409310	Transcript	synonymous_variant	135	66	22	L	ctG/ctC	-	IMPACT=LOW;SYMBOL=PLGLB1;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9072;TSL=1;APPRIS=P1
TCGA-EA-A439-01A-11D-A243-09	2:87017672-87017672	G	ENSG00000183281	ENST00000409795	Transcript	synonymous_variant,NMD_transcript_variant	135	66	22	L	ctG/ctC	-	IMPACT=LOW;SYMBOL=PLGLB1;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9072;TSL=5
TCGA-EA-A439-01A-11D-A243-09	2:87017672-87017672	G	ENSG00000183281	ENST00000409801	Transcript	synonymous_variant,NMD_transcript_variant	135	66	22	L	ctG/ctC	-	IMPACT=LOW;SYMBOL=PLGLB1;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9072;TSL=5
TCGA-C5-A7CL-01A-11D-A32I-09	5:43509274-43509274	G	ENSG00000172244	ENST00000306862	Transcript	synonymous_variant	442	66	22	G	ggG/ggC	-	IMPACT=LOW;SYMBOL=C5orf34;BIOTYPE=protein_coding;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24738;TSL=1;APPRIS=P1
TCGA-DS-A0VK-01A-21D-A10S-08	9:35685308-35685308	T	ENSG00000198467	ENST00000607559	Transcript	missense_variant	65	65	22	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TPM2;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12011;TSL=2
TCGA-EX-A1H6-01B-11D-A22X-09	11:1257694-1257694	T	ENSG00000117983	ENST00000526859	Transcript	synonymous_variant	69	69	23	C	tgC/tgT	-	IMPACT=LOW;SYMBOL=MUC5B;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7516;TSL=3
TCGA-EK-A3GJ-01A-21D-A20U-09	11:101981896-101981896	A	ENSG00000110318	ENST00000532077	Transcript	missense_variant	66	68	23	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=CEP126;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29264;TSL=3;APPRIS=A2;SIFT=tolerated_low_confidence(0.6);PolyPhen=benign(0.001)
TCGA-EA-A411-01A-11D-A243-09	12:4764034-4764034	C	ENSG00000130035	ENST00000535354	Transcript	missense_variant	67	68	23	E/A	gAa/gCa	-	IMPACT=MODERATE;SYMBOL=GALNT8;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4130;TSL=3;SIFT=tolerated(0.92);PolyPhen=benign(0.005)
TCGA-EK-A2GZ-01A-11D-A17W-09	18:2707601-2707601	A	ENSG00000101596	ENST00000584897	Transcript	missense_variant,NMD_transcript_variant	67	68	23	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=2/32;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000588344	Transcript	missense_variant	70	70	24	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000324816	Transcript	synonymous_variant	486	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=1;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000375137	Transcript	synonymous_variant	380	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=1;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000375143	Transcript	synonymous_variant	189	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=5;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000395523	Transcript	synonymous_variant	546	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=5;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000414204	Transcript	synonymous_variant	485	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=5;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000258388	ENST00000422437	Transcript	synonymous_variant,NMD_transcript_variant	263	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2-EGFL8;BIOTYPE=nonsense_mediated_decay;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:48343;TSL=5;APPRIS=P5;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000424499	Transcript	synonymous_variant	318	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=3;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000258388	ENST00000428388	Transcript	synonymous_variant,NMD_transcript_variant	640	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2-EGFL8;BIOTYPE=nonsense_mediated_decay;EXON=2/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:48343;TSL=2;APPRIS=P5;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000436118	Transcript	synonymous_variant,NMD_transcript_variant	214	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=nonsense_mediated_decay;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=4;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000258388	ENST00000583227	Transcript	synonymous_variant,NMD_transcript_variant	80	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2-EGFL8;BIOTYPE=nonsense_mediated_decay;EXON=1/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:48343;TSL=5;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000258388	ENST00000585246	Transcript	synonymous_variant,NMD_transcript_variant	415	72	24	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2-EGFL8;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:48343;TSL=2;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000573231	Transcript	missense_variant,splice_region_variant	445	73	25	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=4;SIFT=tolerated(0.51);PolyPhen=benign(0.005)
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000575895	Transcript	missense_variant,splice_region_variant	318	73	25	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=4;SIFT=tolerated(0.48);PolyPhen=benign(0.005)
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000576010	Transcript	missense_variant,splice_region_variant	397	73	25	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=5/8;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=5;SIFT=tolerated(0.46);PolyPhen=benign(0.005)
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000576722	Transcript	missense_variant,splice_region_variant	440	73	25	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=4/8;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=3;SIFT=tolerated(0.41);PolyPhen=benign(0.005)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886754-9886754	T	ENSG00000168454	ENST00000357775	Transcript	missense_variant	309	74	25	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=1;APPRIS=P3;SIFT=tolerated(0.47);PolyPhen=benign(0.105)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886754-9886754	T	ENSG00000168454	ENST00000536353	Transcript	missense_variant	481	74	25	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;SIFT=tolerated(0.63);PolyPhen=benign(0.105)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886754-9886754	T	ENSG00000168454	ENST00000584255	Transcript	missense_variant	395	74	25	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=4;SIFT=tolerated(0.26);PolyPhen=benign(0.105)
TCGA-EA-A50E-01A-21D-A26G-09	19:4454023-4454023	T	ENSG00000167671	ENST00000591919	Transcript	missense_variant	71	73	25	A/T	Gca/Aca	-	IMPACT=MODERATE;SYMBOL=UBXN6;BIOTYPE=protein_coding;EXON=1/9;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14928;TSL=5;SIFT=tolerated(0.07);PolyPhen=possibly_damaging(0.86)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000585374	Transcript	missense_variant	221	74	25	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=5;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.913)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000590729	Transcript	missense_variant	133	74	25	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=1/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.715)
TCGA-FU-A23L-01A-11D-A16O-08	9:27296981-27296981	T	ENSG00000120160	ENST00000380031	Transcript	splice_region_variant,synonymous_variant	156	75	25	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=EQTN;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1359;TSL=1;APPRIS=A2
TCGA-FU-A23L-01A-11D-A16O-08	9:27296981-27296981	T	ENSG00000120160	ENST00000380032	Transcript	splice_region_variant,synonymous_variant	159	75	25	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=EQTN;BIOTYPE=protein_coding;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1359;TSL=1;APPRIS=P3
TCGA-FU-A23L-01A-11D-A16O-08	9:27296981-27296981	T	ENSG00000120160	ENST00000537675	Transcript	splice_region_variant,synonymous_variant	156	75	25	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=EQTN;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1359;TSL=1;APPRIS=A2
TCGA-C5-A1MK-01A-11D-A14W-08	9:34637231-34637231	C	ENSG00000147955	ENST00000378892	Transcript	missense_variant	502	74	25	P/R	cCc/cGc	-	IMPACT=MODERATE;SYMBOL=SIGMAR1;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8157;TSL=2
TCGA-C5-A1M6-01A-11D-A13W-08	14:24608392-24608392	T	ENSG00000100450	ENST00000216338	Transcript	missense_variant	121	76	26	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=GZMH;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4710;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.864)
TCGA-C5-A1M6-01A-11D-A13W-08	14:24608392-24608392	T	ENSG00000100450	ENST00000382548	Transcript	missense_variant	162	76	26	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=GZMH;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4710;TSL=1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.951)
TCGA-C5-A1M6-01A-11D-A13W-08	14:24608392-24608392	T	ENSG00000100450	ENST00000557220	Transcript	missense_variant	130	76	26	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=GZMH;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4710;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.996)
TCGA-MY-A5BD-01A-11D-A26G-09	19:14073659-14073659	T	ENSG00000141854	ENST00000590772	Transcript	synonymous_variant	78	78	26	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=MIR1199;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50081;TSL=2;APPRIS=A2
TCGA-DS-A0VK-01A-21D-A10S-08	11:74168589-74168589	A	ENSG00000168014	ENST00000313663	Transcript	missense_variant	307	80	27	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=C2CD3;BIOTYPE=protein_coding;EXON=2/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24564;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-DS-A0VK-01A-21D-A10S-08	11:74168589-74168589	A	ENSG00000168014	ENST00000334126	Transcript	missense_variant	307	80	27	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=C2CD3;BIOTYPE=protein_coding;EXON=2/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24564;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-DS-A0VK-01A-21D-A10S-08	11:74168589-74168589	A	ENSG00000168014	ENST00000539061	Transcript	missense_variant	272	80	27	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=C2CD3;BIOTYPE=protein_coding;EXON=2/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24564;TSL=2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-EK-A3GM-01A-11D-A20U-09	19:579536-579536	G	ENSG00000172270	ENST00000573216	Transcript	missense_variant	143	80	27	S/C	tCc/tGc	COSM4823357	IMPACT=MODERATE;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.985);SOMATIC=1;PHENO=1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000320936	Transcript	missense_variant	159	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=1;APPRIS=P3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000413636	Transcript	missense_variant	164	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000585630	Transcript	missense_variant	291	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000585913	Transcript	missense_variant,NMD_transcript_variant	117	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000585914	Transcript	missense_variant,NMD_transcript_variant	144	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000586472	Transcript	missense_variant	134	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000586548	Transcript	missense_variant	190	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=A1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000586636	Transcript	missense_variant,NMD_transcript_variant	149	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000586773	Transcript	missense_variant	230	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2;APPRIS=A1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000587169	Transcript	missense_variant,NMD_transcript_variant	161	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000587323	Transcript	missense_variant	170	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000587896	Transcript	missense_variant	159	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000588030	Transcript	missense_variant	340	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5;APPRIS=P3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000588090	Transcript	missense_variant	290	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000588230	Transcript	missense_variant	164	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000588411	Transcript	missense_variant	383	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000589235	Transcript	missense_variant	146	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2;APPRIS=A1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000589266	Transcript	missense_variant	453	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000589686	Transcript	missense_variant	165	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000589710	Transcript	missense_variant	291	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000590171	Transcript	missense_variant,NMD_transcript_variant	140	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000590347	Transcript	missense_variant,NMD_transcript_variant	163	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000591055	Transcript	missense_variant,NMD_transcript_variant	148	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000591097	Transcript	missense_variant,NMD_transcript_variant	164	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000591376	Transcript	missense_variant,NMD_transcript_variant	148	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000591659	Transcript	missense_variant	145	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000591935	Transcript	missense_variant	149	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=A1
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000592051	Transcript	missense_variant	556	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=4
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000592412	Transcript	missense_variant,NMD_transcript_variant	226	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=4
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000592815	Transcript	missense_variant	298	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=4
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000593048	Transcript	missense_variant,NMD_transcript_variant	160	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-C5-A7UH-01A-11D-A351-09	19:1271012-1271012	T	ENSG00000099622	ENST00000628979	Transcript	missense_variant	228	79	27	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-Q1-A73Q-01A-21D-A32I-09	2:84880959-84880959	T	ENSG00000186854	ENST00000335459	Transcript	synonymous_variant	287	81	27	G	ggC/ggA	rs776280888	IMPACT=LOW;SYMBOL=TRABD2A;BIOTYPE=protein_coding;EXON=1/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27013;TSL=1;ExAC_MAF=T:8.398e-06;ExAC_Adj_MAF=T:2.357e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:4.515e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A73Q-01A-21D-A32I-09	2:84880959-84880959	T	ENSG00000186854	ENST00000409133	Transcript	synonymous_variant	192	81	27	G	ggC/ggA	rs776280888	IMPACT=LOW;SYMBOL=TRABD2A;BIOTYPE=protein_coding;EXON=1/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27013;TSL=1;ExAC_MAF=T:8.398e-06;ExAC_Adj_MAF=T:2.357e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:4.515e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A73Q-01A-21D-A32I-09	2:84880959-84880959	T	ENSG00000186854	ENST00000409520	Transcript	synonymous_variant	287	81	27	G	ggC/ggA	rs776280888	IMPACT=LOW;SYMBOL=TRABD2A;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27013;TSL=1;APPRIS=P1;ExAC_MAF=T:8.398e-06;ExAC_Adj_MAF=T:2.357e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:4.515e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A5R2-01A-11D-A28B-09	6:32178591-32178591	T	ENSG00000204308	ENST00000375094	Transcript	missense_variant	238	80	27	S/F	tCt/tTt	-	IMPACT=MODERATE;SYMBOL=RNF5;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10068;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EA-A50E-01A-21D-A26G-09	19:4454023-4454023	T	ENSG00000167671	ENST00000592515	Transcript	missense_variant	96	82	28	A/T	Gca/Aca	-	IMPACT=MODERATE;SYMBOL=UBXN6;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14928;TSL=5;SIFT=tolerated(0.1);PolyPhen=probably_damaging(0.956)
TCGA-EA-A439-01A-11D-A243-09	7:141764242-141764242	C	ENSG00000127362	ENST00000247879	Transcript	missense_variant	146	84	28	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=TAS2R3;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14910;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.043)
TCGA-EK-A2R8-01A-21D-A18J-09	19:3543237-3543237	C	ENSG00000183397	ENST00000329493	Transcript	missense_variant,splice_region_variant	110	86	29	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=C19orf71;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:34496;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.74)
TCGA-EA-A3Y4-01A-51D-A243-09	6:26216559-26216559	T	ENSG00000273802	ENST00000541790	Transcript	missense_variant	134	85	29	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=HIST1H2BG;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4746;APPRIS=P1
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000534485	Transcript	missense_variant	90	90	30	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.854);SOMATIC=1;PHENO=1
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000587703	Transcript	missense_variant	86	88	30	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=3;SIFT=tolerated(0.24);PolyPhen=unknown(0)
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000588344	Transcript	missense_variant	88	88	30	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EK-A2PM-01A-11D-A18J-09	19:7925449-7925449	C	ENSG00000178531	ENST00000318978	Transcript	synonymous_variant	310	90	30	T	acC/acG	rs145381924	IMPACT=LOW;SYMBOL=CTXN1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31108;TSL=1;APPRIS=P1;GMAF=T:0.0004;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0020;SAS_MAF=T:0.0000;AA_MAF=T:0.0005;EA_MAF=T:0.0051;ExAC_MAF=T:2.498e-03;ExAC_Adj_MAF=T:0.003319;ExAC_AFR_MAF=T:0.001378;ExAC_AMR_MAF=T:0.000126;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.005843;ExAC_NFE_MAF=T:0.005329;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:7.614e-05
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000231357	Transcript	missense_variant	208	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.461)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000505790	Transcript	missense_variant	546	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.461)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000508261	Transcript	missense_variant,NMD_transcript_variant	194	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.793)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000511126	Transcript	missense_variant	186	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=3;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.856)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000513692	Transcript	missense_variant	364	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.461)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000613726	Transcript	missense_variant	312	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;SIFT=deleterious(0.05);PolyPhen=benign(0.061)
TCGA-EA-A410-01A-11D-A243-09	5:1882016-1882016	A	ENSG00000113430	ENST00000622814	Transcript	missense_variant	307	89	30	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;SIFT=deleterious(0.05);PolyPhen=benign(0.061)
TCGA-C5-A2LZ-01A-11D-A20U-09	6:32154666-32154666	C	ENSG00000221988	ENST00000361568	Transcript	synonymous_variant	194	90	30	L	ctG/ctC	COSM3348378	IMPACT=LOW;SYMBOL=PPT2;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9326;TSL=1;APPRIS=P4;SOMATIC=1;PHENO=1
TCGA-C5-A1M7-01A-11D-A13W-08	11:788486-788486	T	ENSG00000184524	ENST00000330106	Transcript	missense_variant	267	91	31	D/N	Gat/Aat	rs149620345,COSM2020058	IMPACT=MODERATE;SYMBOL=CEND1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24153;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0.02);PolyPhen=probably_damaging(0.913);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;AA_MAF=T:0.0002;EA_MAF=T:0;ExAC_MAF=T:5.783e-05;ExAC_Adj_MAF=T:6.388e-05;ExAC_AFR_MAF=T:0.0003213;ExAC_AMR_MAF=T:0.0001746;ExAC_EAS_MAF=T:0.0001175;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.594e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1;PHENO=0,1
TCGA-FU-A2QG-01A-11D-A18J-09	11:842418-842418	G	ENSG00000177700	ENST00000322028	Transcript	missense_variant	128	91	31	E/Q	Gag/Cag	COSM4849065	IMPACT=MODERATE;SYMBOL=POLR2L;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9199;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.298);SOMATIC=1;PHENO=1
TCGA-FU-A2QG-01A-11D-A18J-09	11:842418-842418	G	ENSG00000177700	ENST00000534030	Transcript	missense_variant,NMD_transcript_variant	112	91	31	E/Q	Gag/Cag	COSM4849065	IMPACT=MODERATE;SYMBOL=POLR2L;BIOTYPE=nonsense_mediated_decay;EXON=1/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9199;TSL=4;SIFT=deleterious(0.05);PolyPhen=benign(0.298);SOMATIC=1;PHENO=1
TCGA-Q1-A6DT-01A-11D-A32I-09	9:34521603-34521603	T	ENSG00000168913	ENST00000399775	Transcript	stop_gained	519	93	31	C/*	tgT/tgA	-	IMPACT=HIGH;SYMBOL=ENHO;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24838;TSL=2;APPRIS=P1
TCGA-EK-A3GM-01A-11D-A20U-09	19:579536-579536	G	ENSG00000172270	ENST00000613627	Transcript	missense_variant	120	95	32	S/C	tCc/tGc	COSM4823357	IMPACT=MODERATE;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.955);SOMATIC=1;PHENO=1
TCGA-EK-A2RJ-01A-11D-A18J-09	5:43039952-43039952	T	ENSG00000177721	ENST00000314890	Transcript	missense_variant	1515	95	32	G/D	gGt/gAt	rs779218798	IMPACT=MODERATE;SYMBOL=ANXA2R;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33463;TSL=3;APPRIS=P1;ExAC_MAF=C:2.471e-05;ExAC_Adj_MAF=C:2.51e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0003483;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RJ-01A-11D-A18J-09	5:43039952-43039952	T	ENSG00000177721	ENST00000616064	Transcript	missense_variant	394	95	32	G/D	gGt/gAt	rs779218798	IMPACT=MODERATE;SYMBOL=ANXA2R;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33463;APPRIS=P1;ExAC_MAF=C:2.471e-05;ExAC_Adj_MAF=C:2.51e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0003483;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000413787	Transcript	missense_variant	94	94	32	V/M	Gtg/Atg	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=5;PolyPhen=unknown(0);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000413787	Transcript	missense_variant	94	94	32	V/M	Gtg/Atg	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=5;PolyPhen=unknown(0);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000413787	Transcript	missense_variant	94	94	32	V/M	Gtg/Atg	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=5;PolyPhen=unknown(0);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000413787	Transcript	missense_variant	94	94	32	V/M	Gtg/Atg	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=1/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=5;PolyPhen=unknown(0);PHENO=1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000320936	Transcript	missense_variant	177	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=1;APPRIS=P3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000413636	Transcript	missense_variant	182	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000585630	Transcript	missense_variant	309	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000585913	Transcript	missense_variant,NMD_transcript_variant	135	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000585914	Transcript	missense_variant,NMD_transcript_variant	162	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000586472	Transcript	missense_variant	152	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000586548	Transcript	missense_variant	208	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=A1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000586636	Transcript	missense_variant,NMD_transcript_variant	167	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000586773	Transcript	missense_variant	248	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2;APPRIS=A1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000587169	Transcript	missense_variant,NMD_transcript_variant	179	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000587323	Transcript	missense_variant	188	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000587896	Transcript	missense_variant	177	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000588030	Transcript	missense_variant	358	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5;APPRIS=P3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000588090	Transcript	missense_variant	308	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=P3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000588230	Transcript	missense_variant	182	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000588411	Transcript	missense_variant	401	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=5
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000589235	Transcript	missense_variant	164	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2;APPRIS=A1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000589266	Transcript	missense_variant	471	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000589686	Transcript	missense_variant	183	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000589710	Transcript	missense_variant	309	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000590171	Transcript	missense_variant,NMD_transcript_variant	158	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000590347	Transcript	missense_variant,NMD_transcript_variant	181	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000591055	Transcript	missense_variant,NMD_transcript_variant	166	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000591097	Transcript	missense_variant,NMD_transcript_variant	182	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000591376	Transcript	missense_variant,NMD_transcript_variant	166	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000591659	Transcript	missense_variant	163	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000591935	Transcript	missense_variant	167	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3;APPRIS=A1
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000592412	Transcript	missense_variant,NMD_transcript_variant	244	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=4
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000592815	Transcript	missense_variant	316	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=4
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000593048	Transcript	missense_variant,NMD_transcript_variant	178	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=3
TCGA-EA-A3HQ-01A-11D-A20U-09	19:1271030-1271030	T	ENSG00000099622	ENST00000628979	Transcript	missense_variant	246	97	33	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CIRBP;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1982;TSL=2
TCGA-IR-A3LI-01A-11D-A20U-09	19:6433595-6433595	T	ENSG00000181240	ENST00000321510	Transcript	synonymous_variant	168	99	33	P	ccC/ccA	rs576925526	IMPACT=LOW;SYMBOL=SLC25A41;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=5;APPRIS=P1;GMAF=A:0.0000;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;ExAC_MAF=A:6.621e-05,T:8.277e-06,C:8.277e-06;ExAC_Adj_MAF=A:6.791e-05,T:8.489e-06,C:8.489e-06;ExAC_AFR_MAF=A:0,T:0,C:0.0001046;ExAC_AMR_MAF=A:0,T:0,C:0;ExAC_EAS_MAF=A:0.0008162,T:0,C:0;ExAC_FIN_MAF=A:0,T:0,C:0;ExAC_NFE_MAF=A:0,T:1.533e-05,C:0;ExAC_OTH_MAF=A:0,T:0,C:0;ExAC_SAS_MAF=A:6.389e-05,T:0,C:0
TCGA-IR-A3LI-01A-11D-A20U-09	19:6433595-6433595	T	ENSG00000181240	ENST00000458275	Transcript	synonymous_variant,NMD_transcript_variant	168	99	33	P	ccC/ccA	rs576925526	IMPACT=LOW;SYMBOL=SLC25A41;BIOTYPE=nonsense_mediated_decay;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=2;GMAF=A:0.0000;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;ExAC_MAF=A:6.621e-05,T:8.277e-06,C:8.277e-06;ExAC_Adj_MAF=A:6.791e-05,T:8.489e-06,C:8.489e-06;ExAC_AFR_MAF=A:0,T:0,C:0.0001046;ExAC_AMR_MAF=A:0,T:0,C:0;ExAC_EAS_MAF=A:0.0008162,T:0,C:0;ExAC_FIN_MAF=A:0,T:0,C:0;ExAC_NFE_MAF=A:0,T:1.533e-05,C:0;ExAC_OTH_MAF=A:0,T:0,C:0;ExAC_SAS_MAF=A:6.389e-05,T:0,C:0
TCGA-IR-A3LI-01A-11D-A20U-09	19:6433595-6433595	T	ENSG00000181240	ENST00000597558	Transcript	synonymous_variant,NMD_transcript_variant	185	99	33	P	ccC/ccA	rs576925526	IMPACT=LOW;SYMBOL=SLC25A41;BIOTYPE=nonsense_mediated_decay;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=1;GMAF=A:0.0000;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;ExAC_MAF=A:6.621e-05,T:8.277e-06,C:8.277e-06;ExAC_Adj_MAF=A:6.791e-05,T:8.489e-06,C:8.489e-06;ExAC_AFR_MAF=A:0,T:0,C:0.0001046;ExAC_AMR_MAF=A:0,T:0,C:0;ExAC_EAS_MAF=A:0.0008162,T:0,C:0;ExAC_FIN_MAF=A:0,T:0,C:0;ExAC_NFE_MAF=A:0,T:1.533e-05,C:0;ExAC_OTH_MAF=A:0,T:0,C:0;ExAC_SAS_MAF=A:6.389e-05,T:0,C:0
TCGA-C5-A1MJ-01A-11D-A14W-08	10:119029903-119029903	A	ENSG00000188613	ENST00000425699	Transcript	synonymous_variant	188	102	34	P	ccG/ccA	-	IMPACT=LOW;SYMBOL=NANOS1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23044;APPRIS=P2
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000527024	Transcript	missense_variant	213	102	34	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.992);SOMATIC=1;PHENO=1
TCGA-DS-A0VK-01A-21D-A10S-08	19:2476585-2476585	T	ENSG00000099860	ENST00000215631	Transcript	missense_variant	333	101	34	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=GADD45B;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4096;TSL=1;APPRIS=P1;SIFT=tolerated(0.1);PolyPhen=possibly_damaging(0.829)
TCGA-DS-A0VK-01A-21D-A10S-08	19:2476585-2476585	T	ENSG00000099860	ENST00000585359	Transcript	missense_variant,NMD_transcript_variant	314	101	34	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=GADD45B;BIOTYPE=nonsense_mediated_decay;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4096;TSL=3;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.904)
TCGA-DS-A0VK-01A-21D-A10S-08	19:2476585-2476585	T	ENSG00000099860	ENST00000587345	Transcript	missense_variant	312	101	34	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=GADD45B;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4096;TSL=2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.878)
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000590228	Transcript	missense_variant,splice_region_variant	254	104	35	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=4;SIFT=deleterious(0.03);PolyPhen=benign(0.001)
TCGA-EK-A3GM-01A-11D-A20U-09	19:579536-579536	G	ENSG00000172270	ENST00000353555	Transcript	missense_variant	161	104	35	S/C	tCc/tGc	COSM4823357	IMPACT=MODERATE;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974);SOMATIC=1;PHENO=1
TCGA-EK-A3GM-01A-11D-A20U-09	19:579536-579536	G	ENSG00000172270	ENST00000614867	Transcript	missense_variant	116	104	35	S/C	tCc/tGc	COSM4823357	IMPACT=MODERATE;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=3;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0);SOMATIC=1;PHENO=1
TCGA-EK-A2R7-01A-11D-A18J-09	3:126733114-126733114	A	ENSG00000159685	ENST00000513253	Transcript	synonymous_variant	104	105	35	L	ctG/ctA	-	IMPACT=LOW;SYMBOL=CHCHD6;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28184;TSL=3
TCGA-FU-A40J-01A-11D-A243-09	1:158606546-158606546	G	ENSG00000198967	ENST00000361284	Transcript	synonymous_variant	108	108	36	L	ctT/ctG	-	IMPACT=LOW;SYMBOL=OR10Z1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14996;APPRIS=P1
TCGA-EA-A439-01A-11D-A243-09	11:1016049-1016049	A	ENSG00000184956	ENST00000532016	Transcript	missense_variant	105	107	36	T/M	aCg/aTg	rs199716176,COSM4843723,COSM4843724	IMPACT=MODERATE;SYMBOL=MUC6;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7517;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.968);ExAC_MAF=A:1.896e-04;ExAC_Adj_MAF=A:0.0001941;ExAC_AFR_MAF=A:0.0002043;ExAC_AMR_MAF=A:0.001472;ExAC_EAS_MAF=A:0.0001161;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001993;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000440940	Transcript	synonymous_variant	160	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=protein_coding;EXON=2/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=1;APPRIS=P1
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000502550	Transcript	synonymous_variant	205	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=4
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000503550	Transcript	synonymous_variant,NMD_transcript_variant	165	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=5
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000506877	Transcript	synonymous_variant	613	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=3
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000510279	Transcript	synonymous_variant,NMD_transcript_variant	201	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=2
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000512217	Transcript	synonymous_variant	292	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=4
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000513439	Transcript	synonymous_variant,NMD_transcript_variant	245	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=1
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000514369	Transcript	synonymous_variant,NMD_transcript_variant	155	108	36	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=5
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000596673	Transcript	missense_variant	446	111	37	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=3
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000600428	Transcript	missense_variant	757	111	37	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=6/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=5
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000479692	Transcript	missense_variant	125	110	37	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000494262	Transcript	missense_variant	734	110	37	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=3;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000497750	Transcript	missense_variant	185	110	37	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=4;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000498628	Transcript	missense_variant	594	110	37	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=2;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000578845	Transcript	missense_variant	237	110	37	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=2;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-MY-A5BD-01A-11D-A26G-09	16:56485629-56485629	C	ENSG00000125124	ENST00000564123	Transcript	missense_variant	110	112	38	P/A	Cca/Gca	COSM3421046	IMPACT=MODERATE;SYMBOL=BBS2;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:967;TSL=3;SOMATIC=1;PHENO=1
TCGA-EK-A2PM-01A-11D-A18J-09	6:26216532-26216532	G	ENSG00000273802	ENST00000541790	Transcript	missense_variant	161	112	38	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=HIST1H2BG;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4746;APPRIS=P1;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.599)
TCGA-C5-A7UH-01A-11D-A351-09	22:50278464-50278464	T	ENSG00000196576	ENST00000610984	Transcript	synonymous_variant	1906	117	39	G	ggG/ggA	COSM4887281	IMPACT=LOW;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=14/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	22:50278464-50278464	T	ENSG00000196576	ENST00000610984	Transcript	synonymous_variant	1906	117	39	G	ggG/ggA	COSM4887281	IMPACT=LOW;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=14/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;SOMATIC=1;PHENO=1
TCGA-RA-A741-01A-11D-A33O-09	9:20929595-20929595	T	ENSG00000188352	ENST00000603044	Transcript	missense_variant,splice_region_variant	365	115	39	G/C	Ggt/Tgt	-	IMPACT=MODERATE;SYMBOL=FOCAD;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23377;TSL=4;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.987)
TCGA-RA-A741-01A-11D-A33O-09	9:20929595-20929595	T	ENSG00000188352	ENST00000603695	Transcript	missense_variant,splice_region_variant	377	115	39	G/C	Ggt/Tgt	-	IMPACT=MODERATE;SYMBOL=FOCAD;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23377;TSL=4;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.987)
TCGA-C5-A7UH-01A-11D-A351-09	9:33463870-33463870	T	ENSG00000165271	ENST00000379470	Transcript	synonymous_variant	492	117	39	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=NOL6;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19910;TSL=2
TCGA-LP-A7HU-01A-11D-A33O-09	10:70404519-70404519	T	ENSG00000148730	ENST00000373218	Transcript	missense_variant	141	118	40	G/W	Ggg/Tgg	-	IMPACT=MODERATE;SYMBOL=EIF4EBP2;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3289;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.984)
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000332231	Transcript	missense_variant	333	120	40	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=1;APPRIS=A1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.737);SOMATIC=1;PHENO=1
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000448903	Transcript	missense_variant	261	120	40	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000528815	Transcript	missense_variant,NMD_transcript_variant	242	120	40	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=nonsense_mediated_decay;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000534328	Transcript	missense_variant	262	120	40	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000268797	Transcript	stop_lost	464	118	40	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000602279	Transcript	stop_lost	343	118	40	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=1;SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000602377	Transcript	stop_lost	382	118	40	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=4;SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000602496	Transcript	stop_lost,NMD_transcript_variant	367	118	40	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=nonsense_mediated_decay;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=5;SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	16:67685598-67685598	G	ENSG00000141098	ENST00000602855	Transcript	stop_lost	373	118	40	*/Q	Tag/Cag	COSM3818287	IMPACT=HIGH;SYMBOL=GFOD2;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28159;TSL=3;SOMATIC=1;PHENO=1
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1278930-1278930	A	ENSG00000228300	ENST00000469144	Transcript	synonymous_variant	354	120	40	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=C19orf24;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26073;TSL=1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000507111	Transcript	missense_variant	118	119	40	R/T	aGg/aCg	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=3;SIFT=tolerated_low_confidence(0.11);PolyPhen=benign(0.095);ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000507111	Transcript	missense_variant	118	119	40	R/T	aGg/aCg	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=3;SIFT=tolerated_low_confidence(0.11);PolyPhen=benign(0.095);ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000507111	Transcript	missense_variant	118	119	40	R/T	aGg/aCg	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=3;SIFT=tolerated_low_confidence(0.11);PolyPhen=benign(0.095);ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000507111	Transcript	missense_variant	118	119	40	R/T	aGg/aCg	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=3;SIFT=tolerated_low_confidence(0.11);PolyPhen=benign(0.095);ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000319416	Transcript	missense_variant	233	121	41	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000367641	Transcript	missense_variant	180	121	41	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000367643	Transcript	missense_variant	198	121	41	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=2;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000419909	Transcript	missense_variant,NMD_transcript_variant	177	121	41	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=nonsense_mediated_decay;EXON=3/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-Q1-A73P-01A-11D-A32I-09	18:9792156-9792156	T	ENSG00000168461	ENST00000578921	Transcript	missense_variant,splice_region_variant	363	122	41	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=RAB31;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9771;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.276)
TCGA-Q1-A73P-01A-11D-A32I-09	18:9792156-9792156	T	ENSG00000168461	ENST00000581109	Transcript	missense_variant,splice_region_variant,NMD_transcript_variant	221	122	41	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=RAB31;BIOTYPE=nonsense_mediated_decay;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9771;TSL=3;SIFT=tolerated(0.12);PolyPhen=benign(0.386)
TCGA-C5-A1MH-01A-11D-A14W-08	19:4651990-4651990	C	ENSG00000185361	ENST00000327473	Transcript	missense_variant	236	121	41	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=TNFAIP8L1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28279;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.291)
TCGA-C5-A1MH-01A-11D-A14W-08	19:4651990-4651990	C	ENSG00000185361	ENST00000536716	Transcript	missense_variant	267	121	41	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=TNFAIP8L1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28279;TSL=2;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.291)
TCGA-EA-A439-01A-11D-A243-09	15:91017856-91017856	T	ENSG00000184056	ENST00000333371	Transcript	missense_variant	480	126	42	D/E	gaC/gaA	-	IMPACT=MODERATE;SYMBOL=VPS33B;BIOTYPE=protein_coding;EXON=2/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12712;TSL=1;APPRIS=P1
TCGA-EA-A439-01A-11D-A243-09	15:91017856-91017856	T	ENSG00000184056	ENST00000574755	Transcript	missense_variant,NMD_transcript_variant	390	126	42	D/E	gaC/gaA	-	IMPACT=MODERATE;SYMBOL=VPS33B;BIOTYPE=nonsense_mediated_decay;EXON=2/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12712;TSL=2
TCGA-C5-A1BF-01B-11D-A13W-08	19:474621-474621	A	ENSG00000181781	ENST00000315489	Transcript	missense_variant,splice_region_variant	363	127	43	G/C	Ggc/Tgc	COSM4836748	IMPACT=MODERATE;SYMBOL=ODF3L2;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26841;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994);SOMATIC=1;PHENO=1
TCGA-C5-A1BF-01B-11D-A13W-08	19:474621-474621	A	ENSG00000181781	ENST00000382696	Transcript	missense_variant,splice_region_variant	260	127	43	A/S	Gca/Tca	COSM4836748	IMPACT=MODERATE;SYMBOL=ODF3L2;BIOTYPE=protein_coding;EXON=1/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26841;TSL=1;APPRIS=A2;SIFT=tolerated(0.19);PolyPhen=benign(0.267);SOMATIC=1;PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	7:32209496-32209496	A	ENSG00000154678	ENST00000396193	Transcript	synonymous_variant	723	129	43	R	cgG/cgT	rs750428626	IMPACT=LOW;SYMBOL=PDE1C;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8776;TSL=2;APPRIS=A1;ExAC_MAF=A:8.737e-06;ExAC_Adj_MAF=A:3.94e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:8.693e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EA-A411-01A-11D-A243-09	12:4764034-4764034	C	ENSG00000130035	ENST00000542998	Transcript	missense_variant	130	131	44	E/A	gAa/gCa	-	IMPACT=MODERATE;SYMBOL=GALNT8;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4130;TSL=3;SIFT=tolerated(0.7);PolyPhen=benign(0.034)
TCGA-MU-A51Y-01A-11D-A26G-09	3:40529424-40529424	T	ENSG00000172888	ENST00000310898	Transcript	missense_variant	589	130	44	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=ZNF621;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24787;TSL=2
TCGA-MU-A51Y-01A-11D-A26G-09	3:40529424-40529424	T	ENSG00000172888	ENST00000339296	Transcript	missense_variant	582	130	44	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=ZNF621;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24787;TSL=1;APPRIS=P1
TCGA-MU-A51Y-01A-11D-A26G-09	3:40529424-40529424	T	ENSG00000172888	ENST00000403205	Transcript	missense_variant	353	130	44	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=ZNF621;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24787;TSL=1;APPRIS=P1
TCGA-MU-A51Y-01A-11D-A26G-09	3:40529424-40529424	T	ENSG00000172888	ENST00000453351	Transcript	missense_variant	237	130	44	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=ZNF621;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24787;TSL=4
TCGA-FU-A5XV-01A-11D-A28B-09	5:446336-446336	T	ENSG00000180104	ENST00000315013	Transcript	missense_variant	188	131	44	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=EXOC3;BIOTYPE=protein_coding;EXON=1/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30378;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.95)
TCGA-FU-A5XV-01A-11D-A28B-09	5:446336-446336	T	ENSG00000180104	ENST00000508022	Transcript	missense_variant	349	131	44	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=EXOC3;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30378;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.95)
TCGA-FU-A5XV-01A-11D-A28B-09	5:446336-446336	T	ENSG00000180104	ENST00000512944	Transcript	missense_variant	320	131	44	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=EXOC3;BIOTYPE=protein_coding;EXON=2/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30378;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.95)
TCGA-FU-A5XV-01A-11D-A28B-09	5:446336-446336	T	ENSG00000180104	ENST00000515601	Transcript	missense_variant,NMD_transcript_variant	245	131	44	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=EXOC3;BIOTYPE=nonsense_mediated_decay;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30378;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979)
TCGA-FU-A3TQ-01A-11D-A22X-09	9:33541216-33541216	C	ENSG00000230453	ENST00000605687	Transcript	missense_variant	129	131	44	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ANKRD18B;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23644;TSL=5;SIFT=tolerated_low_confidence(0.08);PolyPhen=possibly_damaging(0.497)
TCGA-EK-A3GN-01A-11D-A20U-09	19:1496286-1496286	A	ENSG00000115255	ENST00000395484	Transcript	missense_variant,splice_region_variant,NMD_transcript_variant	134	134	45	S/Y	tCc/tAc	-	IMPACT=MODERATE;SYMBOL=REEP6;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30078;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.983)
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000510525	Transcript	synonymous_variant,NMD_transcript_variant	133	135	45	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=1/13;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=5
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000412947	Transcript	missense_variant	283	134	45	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000441298	Transcript	missense_variant	412	134	45	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=4;SIFT=tolerated(0.14);PolyPhen=probably_damaging(0.999)
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000346501	Transcript	missense_variant	258	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=3;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.745);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000397397	Transcript	missense_variant	362	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000397404	Transcript	missense_variant	396	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=5;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000397406	Transcript	missense_variant	360	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000397408	Transcript	missense_variant	364	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=2;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000397411	Transcript	missense_variant	258	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=2;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000409543	Transcript	missense_variant	224	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=5;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000527644	Transcript	missense_variant	626	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=2;SIFT=tolerated(0.17);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000530404	Transcript	missense_variant	700	137	46	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=5;SIFT=tolerated(0.17);PolyPhen=possibly_damaging(0.676);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2PL-01A-11D-A18J-09	11:959489-959489	G	ENSG00000183020	ENST00000531548	Transcript	missense_variant	138	138	46	I/M	atC/atG	COSM4838294	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.98);SOMATIC=1;PHENO=1
TCGA-DG-A2KL-01A-11D-A17W-09	11:124789809-124789809	T	ENSG00000279342	ENST00000624557	Transcript	missense_variant	261	136	46	V/I	Gta/Ata	-	IMPACT=MODERATE;SYMBOL=AP000866.1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=Clone_based_ensembl_gene;APPRIS=P1
TCGA-IR-A3LF-01A-21D-A22X-09	9:34521558-34521558	T	ENSG00000168913	ENST00000399775	Transcript	synonymous_variant	564	138	46	E	gaG/gaA	COSM3907021	IMPACT=LOW;SYMBOL=ENHO;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24838;TSL=2;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-LP-A4AX-01A-12D-A243-09	17:38562885-38562885	A	ENSG00000277363	ENST00000622190	Transcript	missense_variant	138	140	47	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=SRCIN1;BIOTYPE=protein_coding;EXON=2/15;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29506;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.975)
TCGA-LP-A5U2-01A-11D-A28B-09	19:5787352-5787352	T	ENSG00000141994	ENST00000592468	Transcript	missense_variant,NMD_transcript_variant	138	139	47	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=nonsense_mediated_decay;EXON=3/8;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=5;SIFT=tolerated(1);PolyPhen=benign(0.028)
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000567621	Transcript	stop_gained,NMD_transcript_variant	141	142	48	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=3
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000338387	Transcript	missense_variant	241	142	48	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.056);SOMATIC=1;PHENO=1
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000400606	Transcript	missense_variant	287	142	48	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.056);SOMATIC=1;PHENO=1
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000579494	Transcript	missense_variant	202	142	48	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.056);SOMATIC=1;PHENO=1
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000587541	Transcript	missense_variant	998	144	48	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=2;SIFT=tolerated(0.06);PolyPhen=unknown(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000438103	Transcript	missense_variant	166	142	48	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=2/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.994)
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000453855	Transcript	missense_variant,NMD_transcript_variant	143	143	48	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=nonsense_mediated_decay;EXON=3/7;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=4
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000426434	Transcript	missense_variant	453	143	48	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=4;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.988)
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000303210	Transcript	missense_variant	625	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393924	Transcript	missense_variant	271	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393926	Transcript	missense_variant	388	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000412215	Transcript	missense_variant	232	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=4
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000431068	Transcript	missense_variant	356	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000451587	Transcript	missense_variant	276	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000303210	Transcript	missense_variant	625	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393924	Transcript	missense_variant	271	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393926	Transcript	missense_variant	388	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000412215	Transcript	missense_variant	232	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=4
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000431068	Transcript	missense_variant	356	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000451587	Transcript	missense_variant	276	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000303210	Transcript	missense_variant	625	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393924	Transcript	missense_variant	271	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393926	Transcript	missense_variant	388	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000412215	Transcript	missense_variant	232	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=4
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000431068	Transcript	missense_variant	356	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000451587	Transcript	missense_variant	276	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000303210	Transcript	missense_variant	625	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393924	Transcript	missense_variant	271	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000393926	Transcript	missense_variant	388	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000412215	Transcript	missense_variant	232	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=4
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000431068	Transcript	missense_variant	356	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	7:100676739-100676739	G	ENSG00000172354	ENST00000451587	Transcript	missense_variant	276	143	48	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000223951	Transcript	synonymous_variant	413	144	48	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=2/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=1;APPRIS=A1
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000380117	Transcript	synonymous_variant	688	144	48	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=2/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=1;APPRIS=P3
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000397312	Transcript	synonymous_variant	419	144	48	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=2/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=1;APPRIS=P3
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000440102	Transcript	synonymous_variant	298	144	48	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=3
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000544538	Transcript	synonymous_variant	403	144	48	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=2/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=5;APPRIS=P3
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000367639	Transcript	missense_variant	190	145	49	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000349714	Transcript	missense_variant	146	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=5
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000359226	Transcript	missense_variant	153	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=4
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000374384	Transcript	missense_variant	156	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=2
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000374385	Transcript	missense_variant	324	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=3/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=1;APPRIS=P1
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000397554	Transcript	missense_variant	157	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=2
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000443429	Transcript	missense_variant,NMD_transcript_variant	153	146	49	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=nonsense_mediated_decay;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=5
TCGA-BI-A20A-01A-11D-A14W-08	3:38793865-38793865	A	ENSG00000185313	ENST00000449082	Transcript	missense_variant	146	146	49	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=SCN10A;BIOTYPE=protein_coding;EXON=1/27;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10582;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.424)
TCGA-C5-A1BF-01B-11D-A13W-08	X:152991452-152991452	T	ENSG00000198883	ENST00000361887	Transcript	stop_retained_variant	569	147	49	*	taG/taA	-	IMPACT=LOW;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=1;APPRIS=P2
TCGA-C5-A1BF-01B-11D-A13W-08	X:152991452-152991452	T	ENSG00000198883	ENST00000437210	Transcript	stop_retained_variant	476	147	49	*	taG/taA	-	IMPACT=LOW;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=4;APPRIS=A2
TCGA-C5-A1BF-01B-11D-A13W-08	X:152991452-152991452	T	ENSG00000198883	ENST00000439251	Transcript	stop_retained_variant	586	147	49	*	taG/taA	-	IMPACT=LOW;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=1;APPRIS=P2
TCGA-C5-A1BF-01B-11D-A13W-08	X:152991452-152991452	T	ENSG00000198883	ENST00000452693	Transcript	stop_retained_variant	486	147	49	*	taG/taA	-	IMPACT=LOW;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=2;APPRIS=P2
TCGA-C5-A1BF-01B-11D-A13W-08	X:152991452-152991452	T	ENSG00000198883	ENST00000535214	Transcript	stop_retained_variant	571	147	49	*	taG/taA	-	IMPACT=LOW;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=3;APPRIS=P2
TCGA-C5-A2LX-01A-11D-A18J-09	18:9886830-9886830	G	ENSG00000168454	ENST00000357775	Transcript	synonymous_variant	385	150	50	G	ggC/ggG	-	IMPACT=LOW;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=1;APPRIS=P3
TCGA-C5-A2LX-01A-11D-A18J-09	18:9886830-9886830	G	ENSG00000168454	ENST00000536353	Transcript	synonymous_variant	557	150	50	G	ggC/ggG	-	IMPACT=LOW;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5
TCGA-C5-A2LX-01A-11D-A18J-09	18:9886830-9886830	G	ENSG00000168454	ENST00000584255	Transcript	synonymous_variant	471	150	50	G	ggC/ggG	-	IMPACT=LOW;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=4
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000354402	Transcript	synonymous_variant	165	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=5
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000356738	Transcript	synonymous_variant	165	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=1
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000357560	Transcript	synonymous_variant	594	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=5;APPRIS=P3
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000358580	Transcript	synonymous_variant	509	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=5
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000412920	Transcript	synonymous_variant	150	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=1;APPRIS=A1
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000467078	Transcript	synonymous_variant,NMD_transcript_variant	150	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=nonsense_mediated_decay;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=1
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000509914	Transcript	synonymous_variant,NMD_transcript_variant	237	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=nonsense_mediated_decay;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=1
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000511201	Transcript	synonymous_variant	150	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=protein_coding;EXON=2/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=5
TCGA-EA-A4BA-01A-21D-A26G-09	5:140563815-140563815	A	ENSG00000113108	ENST00000511896	Transcript	synonymous_variant,NMD_transcript_variant	276	150	50	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APBB3;BIOTYPE=nonsense_mediated_decay;EXON=2/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20708;TSL=2
TCGA-C5-A2LZ-01A-11D-A20U-09	11:64950427-64950427	A	ENSG00000168070	ENST00000301896	Transcript	missense_variant	225	151	51	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=MAJIN;BIOTYPE=protein_coding;EXON=5/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27441;TSL=5;APPRIS=P3
TCGA-C5-A2LZ-01A-11D-A20U-09	11:64950427-64950427	A	ENSG00000168070	ENST00000432175	Transcript	missense_variant	217	151	51	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=MAJIN;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27441;TSL=1;APPRIS=P3
TCGA-EK-A2PM-01A-11D-A18J-09	12:111744900-111744900	G	ENSG00000111271	ENST00000515283	Transcript	missense_variant	416	151	51	S/G	Agc/Ggc	-	IMPACT=MODERATE;SYMBOL=ACAD10;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21597;TSL=3;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000327351	Transcript	missense_variant	215	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.23);PolyPhen=possibly_damaging(0.776)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000378406	Transcript	missense_variant	218	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=2;APPRIS=A2;SIFT=tolerated(0.26);PolyPhen=possibly_damaging(0.644)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000378407	Transcript	missense_variant	228	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=2;APPRIS=A2;SIFT=tolerated(0.25);PolyPhen=benign(0.003)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000378409	Transcript	missense_variant	242	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=1;APPRIS=A2;SIFT=tolerated(0.23);PolyPhen=benign(0.025)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000421582	Transcript	missense_variant	215	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=2;APPRIS=A2;SIFT=tolerated_low_confidence(0.2);PolyPhen=benign(0.417)
TCGA-C5-A3HD-01B-11D-A20U-09	9:35658621-35658621	A	ENSG00000159884	ENST00000426546	Transcript	missense_variant	218	152	51	P/Q	cCa/cAa	-	IMPACT=MODERATE;SYMBOL=CCDC107;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28465;TSL=1;APPRIS=P3;SIFT=tolerated(0.25);PolyPhen=possibly_damaging(0.644)
TCGA-C5-A7CO-01A-11D-A351-09	19:4327333-4327333	T	ENSG00000178078	ENST00000598443	Transcript	missense_variant	152	154	52	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=2/6;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=2
TCGA-EA-A50E-01A-21D-A26G-09	19:4454023-4454023	T	ENSG00000167671	ENST00000301281	Transcript	missense_variant	279	154	52	A/T	Gca/Aca	-	IMPACT=MODERATE;SYMBOL=UBXN6;BIOTYPE=protein_coding;EXON=2/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14928;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.721)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000590558	Transcript	missense_variant,NMD_transcript_variant	155	155	52	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=nonsense_mediated_decay;EXON=1/18;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.888)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000357480	Transcript	missense_variant	763	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.915)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000361665	Transcript	missense_variant	762	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=5;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.934)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000362042	Transcript	missense_variant	774	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.824)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000584137	Transcript	missense_variant	439	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=4;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.824)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000585062	Transcript	missense_variant	416	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=4;SIFT=tolerated(0.18);PolyPhen=possibly_damaging(0.824)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:48051276-48051276	G	ENSG00000082641	ENST00000585291	Transcript	missense_variant	473	158	53	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=NFE2L1;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7781;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.915)
TCGA-C5-A3HD-01B-11D-A20U-09	19:308613-308613	A	ENSG00000105556	ENST00000619835	Transcript	missense_variant	155	157	53	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=MIER2;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29210;TSL=3;SIFT=deleterious(0);PolyPhen=benign(0.048)
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000562015	Transcript	synonymous_variant	522	159	53	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=4
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000562075	Transcript	synonymous_variant	319	159	53	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=1
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000566695	Transcript	synonymous_variant	413	159	53	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=2
TCGA-FU-A2QG-01A-11D-A18J-09	8:10623045-10623045	T	ENSG00000183638	ENST00000382483	Transcript	missense_variant	381	157	53	V/I	Gtt/Att	rs192698867	IMPACT=MODERATE;SYMBOL=RP1L1;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15946;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0010;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:5.783e-05;ExAC_Adj_MAF=T:5.867e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0001166;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0003635
TCGA-EA-A50E-01A-21D-A26G-09	11:290393-290393	T	ENSG00000142102	ENST00000482937	Transcript	missense_variant,NMD_transcript_variant	160	161	54	S/F	tCc/tTc	COSM4822249	IMPACT=MODERATE;SYMBOL=ATHL1;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26210;TSL=5;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.968);SOMATIC=1;PHENO=1
TCGA-HG-A2PA-01A-11D-A20U-09	11:695769-695769	C	ENSG00000177042	ENST00000397510	Transcript	missense_variant	342	161	54	R/P	cGa/cCa	rs755852416,COSM4823626	IMPACT=MODERATE;SYMBOL=TMEM80;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27453;TSL=5;APPRIS=P2;SIFT=tolerated(0.07);PolyPhen=benign(0.174);ExAC_MAF=A:1.460e-04;ExAC_Adj_MAF=A:0;ExAC_AFR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1;PHENO=0,1
TCGA-HG-A2PA-01A-11D-A20U-09	11:695769-695769	C	ENSG00000177042	ENST00000608174	Transcript	missense_variant	179	161	54	R/P	cGa/cCa	rs755852416,COSM4823626	IMPACT=MODERATE;SYMBOL=TMEM80;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27453;TSL=5;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.655);ExAC_MAF=A:1.460e-04;ExAC_Adj_MAF=A:0;ExAC_AFR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2R8-01A-21D-A18J-09	12:52680187-52680187	T	ENSG00000167768	ENST00000252244	Transcript	synonymous_variant	221	162	54	G	ggG/ggA	-	IMPACT=LOW;SYMBOL=KRT1;BIOTYPE=protein_coding;EXON=1/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6412;TSL=1;APPRIS=P1
TCGA-JW-A69B-01A-11D-A32I-09	16:21210183-21210183	A	ENSG00000103310	ENST00000574002	Transcript	missense_variant	644	161	54	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=ZP2;BIOTYPE=protein_coding;EXON=4/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13188;TSL=1;APPRIS=P3;SIFT=tolerated(0.25);PolyPhen=benign(0.001)
TCGA-JW-A69B-01A-11D-A32I-09	16:21210183-21210183	A	ENSG00000103310	ENST00000574091	Transcript	missense_variant	161	161	54	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=ZP2;BIOTYPE=protein_coding;EXON=3/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13188;TSL=1;APPRIS=A2;SIFT=tolerated(0.25);PolyPhen=benign(0.001)
TCGA-C5-A1BI-01B-11D-A13W-08	1:237890472-237890472	A	ENSG00000116996	ENST00000366570	Transcript	missense_variant	323	164	55	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=ZP4;BIOTYPE=protein_coding;EXON=1/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15770;TSL=1;APPRIS=P1
TCGA-C5-A1BI-01B-11D-A13W-08	1:237890472-237890472	A	ENSG00000116996	ENST00000611898	Transcript	missense_variant	451	164	55	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=ZP4;BIOTYPE=protein_coding;EXON=1/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15770;TSL=5;APPRIS=P1
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000426047	Transcript	stop_lost	161	163	55	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=3
TCGA-FU-A23K-01A-11D-A16O-08	19:1013310-1013310	C	ENSG00000182087	ENST00000586250	Transcript	missense_variant	162	163	55	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=TMEM259;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17039;TSL=3;SIFT=tolerated(0.65);PolyPhen=benign(0.096)
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000574991	Transcript	missense_variant,splice_region_variant	164	166	56	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=3;SIFT=tolerated(0.45);PolyPhen=benign(0.006)
TCGA-EK-A3GN-01A-11D-A20U-09	19:1496286-1496286	A	ENSG00000115255	ENST00000395479	Transcript	missense_variant,splice_region_variant	166	167	56	S/Y	tCc/tAc	-	IMPACT=MODERATE;SYMBOL=REEP6;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30078;TSL=3;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979)
TCGA-C5-A1MK-01A-11D-A14W-08	19:3110178-3110178	G	ENSG00000088256	ENST00000078429	Transcript	missense_variant	408	166	56	L/V	Ctc/Gtc	COSM1208384	IMPACT=MODERATE;SYMBOL=GNA11;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4379;TSL=1;APPRIS=P1;SIFT=tolerated(0.46);PolyPhen=benign(0.335);SOMATIC=1;PHENO=1
TCGA-EK-A2RO-01A-11D-A18J-09	20:2816721-2816721	C	ENSG00000198326	ENST00000380585	Transcript	missense_variant	261	167	56	L/P	cTa/cCa	-	IMPACT=MODERATE;SYMBOL=TMEM239;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:40044;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0.01);PolyPhen=possibly_damaging(0.855)
TCGA-C5-A7CL-01A-11D-A32I-09	5:33963886-33963886	T	ENSG00000164175	ENST00000510600	Transcript	synonymous_variant	170	168	56	T	acC/acA	-	IMPACT=LOW;SYMBOL=SLC45A2;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16472;TSL=3
TCGA-EK-A3GJ-01A-21D-A20U-09	9:19346894-19346894	T	ENSG00000137145	ENST00000380424	Transcript	synonymous_variant	167	168	56	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=1/5;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=2
TCGA-C5-A2LX-01A-11D-A18J-09	11:66026210-66026210	T	ENSG00000175294	ENST00000312106	Transcript	missense_variant	308	170	57	S/Y	tCt/tAt	-	IMPACT=MODERATE;SYMBOL=CATSPER1;BIOTYPE=protein_coding;EXON=1/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17116;TSL=1;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.735)
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000415183	Transcript	synonymous_variant	197	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=3/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000587460	Transcript	synonymous_variant,NMD_transcript_variant	197	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=nonsense_mediated_decay;EXON=3/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000588810	Transcript	synonymous_variant,NMD_transcript_variant	244	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=nonsense_mediated_decay;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000591337	Transcript	synonymous_variant	396	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=2
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000591433	Transcript	synonymous_variant,NMD_transcript_variant	271	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=nonsense_mediated_decay;EXON=3/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000591806	Transcript	synonymous_variant	247	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=3/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=P2
TCGA-MY-A5BD-01A-11D-A26G-09	19:1358418-1358418	A	ENSG00000160953	ENST00000627377	Transcript	synonymous_variant	171	171	57	V	gtG/gtA	-	IMPACT=LOW;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=3/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5;APPRIS=A2
TCGA-FU-A3YQ-01A-11D-A22X-09	6:26017563-26017563	A	ENSG00000124610	ENST00000244573	Transcript	missense_variant	170	170	57	P/L	cCt/cTt	rs376364331	IMPACT=MODERATE;SYMBOL=HIST1H1A;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4715;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);AA_MAF=T:0;EA_MAF=T:0.0001
TCGA-EK-A2PL-01A-11D-A18J-09	11:6498387-6498387	A	ENSG00000179532	ENST00000254579	Transcript	missense_variant	736	172	58	V/M	Gtg/Atg	COSM4641533,COSM4641534	IMPACT=MODERATE;SYMBOL=DNHD1;BIOTYPE=protein_coding;EXON=3/43;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26532;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2PL-01A-11D-A18J-09	11:6498387-6498387	A	ENSG00000179532	ENST00000354685	Transcript	missense_variant	834	172	58	V/M	Gtg/Atg	COSM4641533,COSM4641534	IMPACT=MODERATE;SYMBOL=DNHD1;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26532;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.992);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2PL-01A-11D-A18J-09	11:6498387-6498387	A	ENSG00000179532	ENST00000527990	Transcript	missense_variant	172	172	58	V/M	Gtg/Atg	COSM4641533,COSM4641534	IMPACT=MODERATE;SYMBOL=DNHD1;BIOTYPE=protein_coding;EXON=1/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26532;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998);SOMATIC=1,1;PHENO=1,1
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000219476	Transcript	missense_variant	803	173	58	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=3/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=5;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000350773	Transcript	missense_variant	248	173	58	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=3/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.963)
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000401874	Transcript	missense_variant	279	173	58	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=3/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975)
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000439117	Transcript	missense_variant,NMD_transcript_variant	235	173	58	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=nonsense_mediated_decay;EXON=3/38;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.991)
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000439673	Transcript	missense_variant	254	173	58	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=3/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993)
TCGA-EK-A2PM-01A-11D-A18J-09	19:1556818-1556818	A	ENSG00000181588	ENST00000605173	Transcript	missense_variant	173	173	58	G/V	gGg/gTg	rs774101409	IMPACT=MODERATE;SYMBOL=MEX3D;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16734;TSL=1;APPRIS=A2;SIFT=tolerated(0.05);PolyPhen=benign(0.18);ExAC_MAF=C:8.263e-06;ExAC_Adj_MAF=C:8.641e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.6e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000579912	Transcript	missense_variant	502	175	59	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=4;SIFT=deleterious(0.03);PolyPhen=benign(0.032);SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	19:4652044-4652044	A	ENSG00000185361	ENST00000327473	Transcript	missense_variant	290	175	59	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=TNFAIP8L1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28279;TSL=1;APPRIS=P1
TCGA-DS-A1OA-01A-11D-A16Y-08	19:4652044-4652044	A	ENSG00000185361	ENST00000536716	Transcript	missense_variant	321	175	59	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=TNFAIP8L1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28279;TSL=2;APPRIS=P1
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000508047	Transcript	synonymous_variant,NMD_transcript_variant	175	177	59	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/5;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=4
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000511461	Transcript	synonymous_variant,NMD_transcript_variant	175	177	59	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=nonsense_mediated_decay;EXON=2/14;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=5
TCGA-JW-A5VJ-01A-11D-A28B-09	9:6007613-6007613	G	ENSG00000183354	ENST00000381461	Transcript	missense_variant	175	175	59	E/Q	Gag/Cag	COSM609137	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SIFT=tolerated_low_confidence(0.07);PolyPhen=benign(0.094);SOMATIC=1;PHENO=1
TCGA-JW-A5VJ-01A-11D-A28B-09	9:6007613-6007613	G	ENSG00000183354	ENST00000399933	Transcript	missense_variant	175	175	59	E/Q	Gag/Cag	COSM609137	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;APPRIS=P1;SIFT=tolerated_low_confidence(0.07);PolyPhen=benign(0.022);SOMATIC=1;PHENO=1
TCGA-JW-A5VJ-01A-11D-A28B-09	9:6007613-6007613	G	ENSG00000183354	ENST00000513355	Transcript	missense_variant	289	175	59	E/Q	Gag/Cag	COSM609137	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SIFT=tolerated_low_confidence(0.11);PolyPhen=benign(0);SOMATIC=1;PHENO=1
TCGA-DS-A0VK-01A-21D-A10S-08	9:27169490-27169490	T	ENSG00000120156	ENST00000519097	Transcript	synonymous_variant	627	177	59	H	caC/caT	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=3/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000610800	Transcript	missense_variant	178	178	60	G/R	Gga/Cga	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-DG-A2KK-01A-11D-A17W-09	5:6449072-6449072	C	ENSG00000215218	ENST00000399816	Transcript	missense_variant	450	179	60	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=UBE2QL1;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37269;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.026)
TCGA-FU-A3WB-01A-11D-A22X-09	18:2656258-2656258	T	ENSG00000101596	ENST00000320876	Transcript	synonymous_variant	521	183	61	C	tgC/tgT	-	IMPACT=LOW;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=1/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	1:236717916-236717916	T	ENSG00000077522	ENST00000366578	Transcript	missense_variant	351	185	62	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ACTN2;BIOTYPE=protein_coding;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:164;TSL=1;APPRIS=P3
TCGA-C5-A1MK-01A-11D-A14W-08	1:236717916-236717916	T	ENSG00000077522	ENST00000542672	Transcript	missense_variant	405	185	62	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ACTN2;BIOTYPE=protein_coding;EXON=2/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:164;TSL=1;APPRIS=A1
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000304808	Transcript	synonymous_variant	186	186	62	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000304808	Transcript	synonymous_variant	186	186	62	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2H0-01A-11D-A17W-09	19:2851618-2851618	C	ENSG00000186300	ENST00000585966	Transcript	missense_variant	325	185	62	G/A	gGa/gCa	rs746667055	IMPACT=MODERATE;SYMBOL=ZNF555;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28382;TSL=4;SIFT=deleterious(0.01);PolyPhen=benign(0.079);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.416e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.696e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-DG-A2KM-01A-11D-A17W-09	10:120513962-120513962	A	ENSG00000203805	ENST00000369073	Transcript	missense_variant	187	187	63	G/R	Ggg/Agg	rs184725683	IMPACT=MODERATE;SYMBOL=PLPP4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23531;TSL=5;GMAF=T:0.0008;AFR_MAF=T:0.0000;AMR_MAF=T:0.0029;EAS_MAF=T:0.0010;EUR_MAF=T:0.0010;SAS_MAF=T:0.0000;AA_MAF=T:0.0008;EA_MAF=T:0.0009;ExAC_MAF=T:5.545e-04;ExAC_Adj_MAF=T:0.0005548;ExAC_AFR_MAF=T:0.0004081;ExAC_AMR_MAF=T:0.0007775;ExAC_EAS_MAF=T:0.0002319;ExAC_FIN_MAF=T:0.0001512;ExAC_NFE_MAF=T:0.0007492;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000322008	Transcript	missense_variant	332	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=1;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000397420	Transcript	missense_variant	437	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=1;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000397421	Transcript	missense_variant	270	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=1;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000524748	Transcript	missense_variant	440	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=5;SIFT=deleterious(0.05);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000525333	Transcript	missense_variant	510	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=4;SIFT=deleterious(0);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000525718	Transcript	missense_variant	477	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=2;SIFT=deleterious(0);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000526439	Transcript	missense_variant	707	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=2;SIFT=deleterious(0);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000526693	Transcript	missense_variant	431	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=5/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=3;SIFT=deleterious(0.05);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000527341	Transcript	missense_variant	444	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=3;SIFT=deleterious(0.05);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000528011	Transcript	missense_variant	195	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=5;APPRIS=A1;SIFT=deleterious(0.04);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000528867	Transcript	missense_variant	463	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=4;SIFT=deleterious(0);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000529810	Transcript	missense_variant	261	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=3;SIFT=deleterious(0.01);PolyPhen=benign(0.192);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000530320	Transcript	missense_variant	326	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=3;SIFT=tolerated(0.05);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-FU-A3TX-01A-11D-A22X-09	11:836354-836354	G	ENSG00000177697	ENST00000530726	Transcript	missense_variant,NMD_transcript_variant	271	188	63	I/S	aTc/aGc	COSM4849335	IMPACT=MODERATE;SYMBOL=CD151;BIOTYPE=nonsense_mediated_decay;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1630;TSL=5;SIFT=deleterious(0.04);PolyPhen=benign(0.128);SOMATIC=1;PHENO=1
TCGA-EK-A2RN-01A-12D-A20U-09	20:35384117-35384117	T	ENSG00000101019	ENST00000438533	Transcript	missense_variant	194	188	63	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=UQCC1;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15891;TSL=3
TCGA-EK-A2RO-01A-11D-A18J-09	5:7870902-7870902	A	ENSG00000124275	ENST00000264668	Transcript	synonymous_variant	219	189	63	Q	caG/caA	-	IMPACT=LOW;SYMBOL=MTRR;BIOTYPE=protein_coding;EXON=2/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7473;TSL=1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000314367	Transcript	stop_gained	471	187	63	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=4/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000382389	Transcript	stop_gained	447	187	63	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=2;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-MY-A5BD-01A-11D-A26G-09	9:6250569-6250569	C	ENSG00000137033	ENST00000381434	Transcript	missense_variant	200	187	63	E/Q	Gaa/Caa	COSM4855557	IMPACT=MODERATE;SYMBOL=IL33;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16028;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.643);SOMATIC=1;PHENO=1
TCGA-MY-A5BD-01A-11D-A26G-09	9:6250569-6250569	C	ENSG00000137033	ENST00000456383	Transcript	missense_variant	187	187	63	E/Q	Gaa/Caa	COSM4855557	IMPACT=MODERATE;SYMBOL=IL33;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16028;TSL=5;SIFT=deleterious(0.02);PolyPhen=benign(0.219);SOMATIC=1;PHENO=1
TCGA-MY-A5BD-01A-11D-A26G-09	9:6250569-6250569	C	ENSG00000137033	ENST00000611532	Transcript	missense_variant	202	187	63	E/Q	Gaa/Caa	COSM4855557	IMPACT=MODERATE;SYMBOL=IL33;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16028;TSL=1;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.73);SOMATIC=1;PHENO=1
TCGA-DS-A7WI-01A-12D-A351-09	17:10547729-10547729	A	ENSG00000125414	ENST00000245503	Transcript	synonymous_variant	577	192	64	T	acC/acT	-	IMPACT=LOW;SYMBOL=MYH2;BIOTYPE=protein_coding;EXON=3/40;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7572;TSL=1;APPRIS=P1
TCGA-DS-A7WI-01A-12D-A351-09	17:10547729-10547729	A	ENSG00000125414	ENST00000397183	Transcript	synonymous_variant	320	192	64	T	acC/acT	-	IMPACT=LOW;SYMBOL=MYH2;BIOTYPE=protein_coding;EXON=3/40;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7572;TSL=5;APPRIS=P1
TCGA-DS-A7WI-01A-12D-A351-09	17:10547729-10547729	A	ENSG00000125414	ENST00000420805	Transcript	synonymous_variant	320	192	64	T	acC/acT	-	IMPACT=LOW;SYMBOL=MYH2;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7572;TSL=5
TCGA-DS-A7WI-01A-12D-A351-09	17:10547729-10547729	A	ENSG00000125414	ENST00000532183	Transcript	synonymous_variant	461	192	64	T	acC/acT	-	IMPACT=LOW;SYMBOL=MYH2;BIOTYPE=protein_coding;EXON=2/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7572;TSL=1
TCGA-DS-A7WI-01A-12D-A351-09	17:10547729-10547729	A	ENSG00000125414	ENST00000622564	Transcript	synonymous_variant	320	192	64	T	acC/acT	-	IMPACT=LOW;SYMBOL=MYH2;BIOTYPE=protein_coding;EXON=3/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7572;TSL=1
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000610800	Transcript	synonymous_variant	192	192	64	R	cgG/cgT	-	IMPACT=LOW;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3
TCGA-EA-A5ZF-01A-11D-A28B-09	11:862623-862623	G	ENSG00000214063	ENST00000409531	Transcript	missense_variant	278	194	65	S/C	tCt/tGt	rs375365291,COSM4838149	IMPACT=MODERATE;SYMBOL=TSPAN4;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11859;TSL=5;SIFT=tolerated(0.07);PolyPhen=possibly_damaging(0.754);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:2.473e-05,G:8.242e-06;ExAC_Adj_MAF=T:2.507e-05,G:0;ExAC_AFR_MAF=T:0,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:4.574e-05,G:0;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0,G:0;SOMATIC=0,1;PHENO=0,1
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000583389	Transcript	missense_variant	191	193	65	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-JW-A69B-01A-11D-A32I-09	19:1073273-1073273	G	ENSG00000180448	ENST00000543365	Transcript	synonymous_variant	263	195	65	T	acC/acG	-	IMPACT=LOW;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=2/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=2;APPRIS=A2
TCGA-EK-A2RJ-01A-11D-A18J-09	19:3224933-3224933	C	ENSG00000161082	ENST00000292672	Transcript	missense_variant	231	194	65	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=protein_coding;EXON=1/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.095)
TCGA-EK-A2RJ-01A-11D-A18J-09	19:3224933-3224933	C	ENSG00000161082	ENST00000541430	Transcript	missense_variant	230	194	65	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=protein_coding;EXON=1/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A3HE-01A-21D-A22X-09	19:5784377-5784377	A	ENSG00000212123	ENST00000419421	Transcript	missense_variant,splice_region_variant	298	193	65	R/C	Cgt/Tgt	rs186017590	IMPACT=MODERATE;SYMBOL=PRR22;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28354;TSL=2;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);GMAF=T:0.0008;AFR_MAF=T:0.0030;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:2.252e-04;ExAC_Adj_MAF=T:0.0003078;ExAC_AFR_MAF=T:0.003618;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2H0-01A-11D-A17W-09	4:48490485-48490485	G	ENSG00000182223	ENST00000327939	Transcript	missense_variant	234	194	65	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=ZAR1;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20436;TSL=1;APPRIS=P1
TCGA-IR-A3LB-01A-11D-A243-09	5:31799444-31799444	T	ENSG00000133401	ENST00000438447	Transcript	synonymous_variant	584	196	66	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=PDZD2;BIOTYPE=protein_coding;EXON=2/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18486;TSL=1;APPRIS=P1
TCGA-FU-A3NI-01A-11D-A21Q-09	5:45695897-45695897	A	ENSG00000164588	ENST00000303230	Transcript	missense_variant	438	197	66	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=HCN1;BIOTYPE=protein_coding;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4845;TSL=1;APPRIS=P1;SIFT=tolerated_low_confidence(0.22);PolyPhen=unknown(0)
TCGA-FU-A3NI-01A-11D-A21Q-09	5:45695897-45695897	A	ENSG00000164588	ENST00000634658	Transcript	missense_variant	602	197	66	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=HCN1;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4845;TSL=3;SIFT=tolerated(0.14);PolyPhen=unknown(0)
TCGA-C5-A2M2-01A-21D-A18J-09	9:18941665-18941665	T	ENSG00000155875	ENST00000542071	Transcript	synonymous_variant	501	198	66	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=SAXO1;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28566;TSL=3;APPRIS=A2
TCGA-C5-A1MK-01A-11D-A14W-08	10:103990725-103990725	T	ENSG00000065613	ENST00000335753	Transcript	synonymous_variant	746	201	67	T	acG/acT	-	IMPACT=LOW;SYMBOL=SLK;BIOTYPE=protein_coding;EXON=2/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11088;TSL=1;APPRIS=A2
TCGA-C5-A1MK-01A-11D-A14W-08	10:103990725-103990725	T	ENSG00000065613	ENST00000369755	Transcript	synonymous_variant	746	201	67	T	acG/acT	-	IMPACT=LOW;SYMBOL=SLK;BIOTYPE=protein_coding;EXON=2/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11088;TSL=1;APPRIS=P3
TCGA-Q1-A73Q-01A-21D-A32I-09	19:7076482-7076482	A	ENSG00000130544	ENST00000414706	Transcript	synonymous_variant	441	201	67	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=ZNF557;BIOTYPE=protein_coding;EXON=5/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28632;TSL=2;APPRIS=A2
TCGA-C5-A1MK-01A-11D-A14W-08	10:69407184-69407184	C	ENSG00000075073	ENST00000373307	Transcript	missense_variant	458	202	68	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=TACR2;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11527;TSL=2;SIFT=tolerated(0.07);PolyPhen=benign(0.092)
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000447186	Transcript	missense_variant	201	203	68	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=3
TCGA-DG-A2KK-01A-11D-A17W-09	19:2794766-2794766	C	ENSG00000172009	ENST00000585338	Transcript	missense_variant,splice_region_variant	433	202	68	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=3
TCGA-DS-A0VK-01A-21D-A10S-08	11:74168589-74168589	A	ENSG00000168014	ENST00000535954	Transcript	missense_variant	206	206	69	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=C2CD3;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24564;TSL=4;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.992)
TCGA-DG-A2KM-01A-11D-A17W-09	16:2050434-2050434	A	ENSG00000103197	ENST00000568454	Transcript	missense_variant	274	206	69	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=TSC2;BIOTYPE=protein_coding;EXON=3/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12363;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.963)
TCGA-IR-A3LL-01A-11D-A20U-09	4:672505-672505	T	ENSG00000169020	ENST00000304312	Transcript	missense_variant	296	205	69	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=ATP5I;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:846;TSL=1;APPRIS=P1
TCGA-C5-A2LX-01A-11D-A18J-09	9:894052-894052	T	ENSG00000137090	ENST00000569227	Transcript	missense_variant	566	205	69	N/Y	Aac/Tac	COSM4827571	IMPACT=MODERATE;SYMBOL=DMRT1;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2934;TSL=1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.993);SOMATIC=1;PHENO=1
TCGA-EA-A3QD-01A-32D-A22X-09	9:24544225-24544225	A	ENSG00000205442	ENST00000418122	Transcript	missense_variant	205	205	69	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=IZUMO3;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31421;TSL=5;APPRIS=A2
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000585642	Transcript	missense_variant,splice_region_variant	294	209	70	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=4;SIFT=deleterious(0.03);PolyPhen=benign(0.001)
TCGA-C5-A3HE-01A-21D-A22X-09	19:5784377-5784377	A	ENSG00000267157	ENST00000586012	Transcript	missense_variant	209	209	70	T/M	aCg/aTg	rs186017590	IMPACT=MODERATE;SYMBOL=CTB-54O9.9;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=3;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.711);GMAF=T:0.0008;AFR_MAF=T:0.0030;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:2.252e-04;ExAC_Adj_MAF=T:0.0003078;ExAC_AFR_MAF=T:0.003618;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:6821677-6821677	C	ENSG00000141968	ENST00000539284	Transcript	missense_variant	209	209	70	S/T	aGc/aCc	rs772003183	IMPACT=MODERATE;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=3/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=5;SIFT=deleterious(0);PolyPhen=benign(0.197);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.255e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.503e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-FU-A23L-01A-11D-A16O-08	16:72122968-72122968	G	ENSG00000118557	ENST00000537792	Transcript	missense_variant	212	212	71	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=PMFBP1;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17728;TSL=2;APPRIS=A2;SIFT=deleterious_low_confidence(0.01);PolyPhen=probably_damaging(0.983)
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000588749	Transcript	missense_variant	211	211	71	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=CACTIN;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=3;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.923)
TCGA-C5-A2LX-01A-11D-A18J-09	19:6821677-6821677	C	ENSG00000141968	ENST00000599806	Transcript	missense_variant	297	212	71	S/T	aGc/aCc	rs772003183	IMPACT=MODERATE;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=3/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1;SIFT=deleterious(0);PolyPhen=benign(0.097);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.255e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.503e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A7UH-01A-11D-A351-09	19:41352833-41352833	T	ENSG00000105329	ENST00000221930	Transcript	missense_variant	1079	212	71	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=TGFB1;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11766;TSL=1;APPRIS=P1;SIFT=tolerated(0.6);PolyPhen=benign(0.408)
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000329697	Transcript	missense_variant	384	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=3/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=1;APPRIS=P1;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000414188	Transcript	missense_variant	226	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=2/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=1;APPRIS=P1;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000565232	Transcript	missense_variant	685	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=4/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=2;APPRIS=P1;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000566384	Transcript	missense_variant	422	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=5;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000567001	Transcript	missense_variant	356	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=4/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=1;APPRIS=P1;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000569327	Transcript	missense_variant,NMD_transcript_variant	298	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=nonsense_mediated_decay;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=2;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-FU-A57G-01A-11D-A26G-09	16:20559410-20559410	A	ENSG00000066813	ENST00000569344	Transcript	missense_variant	454	215	72	A/V	gCg/gTg	rs753006019	IMPACT=MODERATE;SYMBOL=ACSM2B;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30931;TSL=3;ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:8.688e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.576e-05
TCGA-EX-A1H6-01B-11D-A22X-09	19:1242530-1242530	T	ENSG00000099624	ENST00000215375	Transcript	synonymous_variant	317	216	72	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=ATP5D;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:837;TSL=1;APPRIS=P1
TCGA-EX-A1H6-01B-11D-A22X-09	19:1242530-1242530	T	ENSG00000099624	ENST00000395633	Transcript	synonymous_variant	321	216	72	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=ATP5D;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:837;TSL=1;APPRIS=P1
TCGA-EX-A1H6-01B-11D-A22X-09	19:1242530-1242530	T	ENSG00000099624	ENST00000591660	Transcript	synonymous_variant	247	216	72	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=ATP5D;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:837;TSL=3;APPRIS=P1
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000598908	Transcript	missense_variant	212	214	72	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=3;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000600682	Transcript	missense_variant	212	214	72	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-DG-A2KM-01A-11D-A17W-09	10:120513962-120513962	A	ENSG00000203805	ENST00000398250	Transcript	missense_variant	569	217	73	G/R	Ggg/Agg	rs184725683	IMPACT=MODERATE;SYMBOL=PLPP4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23531;TSL=1;APPRIS=P2;GMAF=T:0.0008;AFR_MAF=T:0.0000;AMR_MAF=T:0.0029;EAS_MAF=T:0.0010;EUR_MAF=T:0.0010;SAS_MAF=T:0.0000;AA_MAF=T:0.0008;EA_MAF=T:0.0009;ExAC_MAF=T:5.545e-04;ExAC_Adj_MAF=T:0.0005548;ExAC_AFR_MAF=T:0.0004081;ExAC_AMR_MAF=T:0.0007775;ExAC_EAS_MAF=T:0.0002319;ExAC_FIN_MAF=T:0.0001512;ExAC_NFE_MAF=T:0.0007492;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05
TCGA-DG-A2KM-01A-11D-A17W-09	10:120513962-120513962	A	ENSG00000203805	ENST00000427079	Transcript	missense_variant	301	217	73	G/R	Ggg/Agg	rs184725683	IMPACT=MODERATE;SYMBOL=PLPP4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23531;TSL=1;APPRIS=A1;GMAF=T:0.0008;AFR_MAF=T:0.0000;AMR_MAF=T:0.0029;EAS_MAF=T:0.0010;EUR_MAF=T:0.0010;SAS_MAF=T:0.0000;AA_MAF=T:0.0008;EA_MAF=T:0.0009;ExAC_MAF=T:5.545e-04;ExAC_Adj_MAF=T:0.0005548;ExAC_AFR_MAF=T:0.0004081;ExAC_AMR_MAF=T:0.0007775;ExAC_EAS_MAF=T:0.0002319;ExAC_FIN_MAF=T:0.0001512;ExAC_NFE_MAF=T:0.0007492;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000581619	Transcript	missense_variant	1064	217	73	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=2;SIFT=deleterious(0.02);PolyPhen=benign(0.091);SOMATIC=1;PHENO=1
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000568865	Transcript	synonymous_variant	219	219	73	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=5
TCGA-IR-A3LL-01A-11D-A20U-09	19:1043092-1043092	A	ENSG00000064687	ENST00000435683	Transcript	missense_variant	254	217	73	G/R	Gga/Aga	rs148324257	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=2/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=A2;AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.242e-06;ExAC_Adj_MAF=G:8.506e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.562e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000396969	Transcript	missense_variant	491	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000594099	Transcript	missense_variant	891	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000595992	Transcript	missense_variant	471	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000596075	Transcript	missense_variant	552	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000596853	Transcript	missense_variant	461	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000598235	Transcript	missense_variant	550	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000598692	Transcript	missense_variant	544	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000601533	Transcript	missense_variant	518	218	73	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000545507	Transcript	stop_gained	736	221	74	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=5/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000573784	Transcript	stop_gained	527	221	74	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=4;SOMATIC=1,1;PHENO=1,1
TCGA-Q1-A73Q-01A-21D-A32I-09	19:7076482-7076482	A	ENSG00000130544	ENST00000252840	Transcript	synonymous_variant	723	222	74	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=ZNF557;BIOTYPE=protein_coding;EXON=5/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28632;TSL=1;APPRIS=P3
TCGA-HM-A6W2-01A-21D-A33O-09	3:190321985-190321985	G	ENSG00000163347	ENST00000295522	Transcript	splice_region_variant,synonymous_variant	491	222	74	S	agT/agC	-	IMPACT=LOW;SYMBOL=CLDN1;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2032;TSL=1;APPRIS=P1
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000539208	Transcript	missense_variant	358	220	74	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=2/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=2;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.413)
TCGA-EK-A2R8-01A-21D-A18J-09	18:3215001-3215001	A	ENSG00000101605	ENST00000261606	Transcript	stop_gained	298	223	75	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=MYOM1;BIOTYPE=protein_coding;EXON=2/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7613;TSL=1;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	18:3215001-3215001	A	ENSG00000101605	ENST00000356443	Transcript	stop_gained	557	223	75	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=MYOM1;BIOTYPE=protein_coding;EXON=2/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7613;TSL=1;APPRIS=P4
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000593119	Transcript	missense_variant	257	224	75	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=2;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.739)
TCGA-C5-A1BK-01B-11D-A13W-08	19:5729890-5729891	-	ENSG00000174898	ENST00000381624	Transcript	frameshift_variant	284	223	75	L/X	Ttg/tg	rs558940906	IMPACT=HIGH;SYMBOL=CATSPERD;BIOTYPE=protein_coding;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28598;TSL=1;APPRIS=P1;GMAF=G:0.0000;AFR_MAF=G:0.0000;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000
TCGA-C5-A3HE-01A-21D-A22X-09	19:5784377-5784377	A	ENSG00000212123	ENST00000390672	Transcript	missense_variant	223	224	75	T/M	aCg/aTg	rs186017590	IMPACT=MODERATE;SYMBOL=PRR22;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28354;APPRIS=A2;PolyPhen=unknown(0);GMAF=T:0.0008;AFR_MAF=T:0.0030;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:2.252e-04;ExAC_Adj_MAF=T:0.0003078;ExAC_AFR_MAF=T:0.003618;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000591497	Transcript	missense_variant	479	226	76	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=5;SIFT=tolerated(0.08);PolyPhen=benign(0.011)
TCGA-EX-A449-01A-11D-A243-09	19:5788165-5788165	T	ENSG00000141994	ENST00000320699	Transcript	synonymous_variant	293	228	76	L	ctG/ctA	rs148148687	IMPACT=LOW;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=4/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=A2;GMAF=G:0.0058;AFR_MAF=G:0.0219;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0098;EA_MAF=G:0.0001;ExAC_MAF=G:1.128e-03;ExAC_Adj_MAF=G:0.001133;ExAC_AFR_MAF=G:0.01301;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.04e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.058e-05
TCGA-C5-A1MP-01A-11D-A14W-08	19:53014316-53014316	C	ENSG00000269526	ENST00000602168	Transcript	missense_variant	396	226	76	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=ERVV-1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26501;APPRIS=P1
TCGA-EK-A2R7-01A-11D-A18J-09	1:178514730-178514730	T	ENSG00000240021	ENST00000367642	Transcript	missense_variant	300	229	77	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=TEX35;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25366;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.985)
TCGA-EK-A2RB-01A-11D-A18J-09	11:828915-828915	T	ENSG00000177685	ENST00000450448	Transcript	missense_variant	577	229	77	R/W	Cgg/Tgg	COSM4820003	IMPACT=MODERATE;SYMBOL=CRACR2B;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28703;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.663);SOMATIC=1;PHENO=1
TCGA-EK-A2RB-01A-11D-A18J-09	11:828915-828915	T	ENSG00000177685	ENST00000525077	Transcript	missense_variant	330	229	77	R/W	Cgg/Tgg	COSM4820003	IMPACT=MODERATE;SYMBOL=CRACR2B;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28703;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.54);SOMATIC=1;PHENO=1
TCGA-EK-A2RB-01A-11D-A18J-09	11:828915-828915	T	ENSG00000177685	ENST00000527089	Transcript	missense_variant	789	229	77	R/W	Cgg/Tgg	COSM4820003	IMPACT=MODERATE;SYMBOL=CRACR2B;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28703;TSL=3;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.54);SOMATIC=1;PHENO=1
TCGA-EK-A2RB-01A-11D-A18J-09	11:828915-828915	T	ENSG00000177685	ENST00000528542	Transcript	missense_variant	711	229	77	R/W	Cgg/Tgg	COSM4820003	IMPACT=MODERATE;SYMBOL=CRACR2B;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28703;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.663);SOMATIC=1;PHENO=1
TCGA-EK-A2RB-01A-11D-A18J-09	11:828915-828915	T	ENSG00000177685	ENST00000533803	Transcript	missense_variant	728	229	77	R/W	Cgg/Tgg	COSM4820003	IMPACT=MODERATE;SYMBOL=CRACR2B;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28703;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.54);SOMATIC=1;PHENO=1
TCGA-C5-A1BK-01B-11D-A13W-08	18:2577797-2577797	C	ENSG00000080986	ENST00000261597	Transcript	synonymous_variant	413	231	77	S	tcG/tcC	-	IMPACT=LOW;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=4/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=1;APPRIS=P1
TCGA-Q1-A5R1-01A-11D-A28B-09	9:23762091-23762091	A	ENSG00000107105	ENST00000380110	Transcript	synonymous_variant	299	231	77	H	caC/caT	-	IMPACT=LOW;SYMBOL=ELAVL2;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3313;TSL=5;APPRIS=A1
TCGA-WL-A834-01A-11D-A351-09	19:727657-727657	A	ENSG00000099864	ENST00000264560	Transcript	missense_variant	440	232	78	E/K	Gag/Aag	COSM4830507	IMPACT=MODERATE;SYMBOL=PALM;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8594;TSL=4;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.699);SOMATIC=1;PHENO=1
TCGA-WL-A834-01A-11D-A351-09	19:727657-727657	A	ENSG00000099864	ENST00000338448	Transcript	missense_variant	278	232	78	E/K	Gag/Aag	COSM4830507	IMPACT=MODERATE;SYMBOL=PALM;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8594;TSL=1;APPRIS=P4;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.939);SOMATIC=1;PHENO=1
TCGA-DG-A2KK-01A-11D-A17W-09	19:2794766-2794766	C	ENSG00000172009	ENST00000307741	Transcript	missense_variant,splice_region_variant	435	232	78	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=3/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=1;APPRIS=P1
TCGA-C5-A1M6-01A-11D-A13W-08	9:117888-117888	T	ENSG00000170122	ENST00000382500	Transcript	missense_variant	317	232	78	D/N	Gac/Aac	COSM4826731,COSM4826732	IMPACT=MODERATE;SYMBOL=FOXD4;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3805;APPRIS=P1;SIFT=tolerated(0.35);PolyPhen=benign(0.006);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LI-01A-11D-A20U-09	1:152759824-152759824	C	ENSG00000203786	ENST00000606109	Transcript	missense_variant	264	236	79	K/T	aAg/aCg	-	IMPACT=MODERATE;SYMBOL=KPRP;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31823;APPRIS=P1;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886715-9886715	A	ENSG00000168454	ENST00000306084	Transcript	missense_variant	435	236	79	A/E	gCg/gAg	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=2;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886715-9886715	A	ENSG00000168454	ENST00000611534	Transcript	missense_variant	685	236	79	A/E	gCg/gAg	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;APPRIS=A2
TCGA-C5-A1ME-01A-11D-A13W-08	3:50293634-50293634	A	ENSG00000186792	ENST00000415204	Transcript	stop_gained,splice_region_variant	422	235	79	Q/*	Cag/Tag	COSM419931	IMPACT=HIGH;SYMBOL=HYAL3;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5322;TSL=1;SOMATIC=1;PHENO=1
TCGA-IR-A3LL-01A-11D-A20U-09	6:26199793-26199793	A	ENSG00000277224	ENST00000356530	Transcript	missense_variant	274	235	79	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=HIST1H2BF;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4752;APPRIS=P1;SIFT=deleterious_low_confidence(0.01);PolyPhen=possibly_damaging(0.834)
TCGA-EX-A69M-01A-11D-A32I-09	6:26158407-26158407	T	ENSG00000158373	ENST00000289316	Transcript	missense_variant	262	238	80	R/C	Cgc/Tgc	rs760568561,COSM1634671	IMPACT=MODERATE;SYMBOL=HIST1H2BD;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4747;TSL=1;APPRIS=P1;SIFT=tolerated_low_confidence(0.1);PolyPhen=benign(0.003);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05;SOMATIC=0,1;PHENO=0,1
TCGA-EX-A69M-01A-11D-A32I-09	6:26158407-26158407	T	ENSG00000158373	ENST00000377777	Transcript	missense_variant	262	238	80	R/C	Cgc/Tgc	rs760568561,COSM1634671	IMPACT=MODERATE;SYMBOL=HIST1H2BD;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4747;APPRIS=P1;SIFT=tolerated_low_confidence(0.1);PolyPhen=benign(0.003);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05;SOMATIC=0,1;PHENO=0,1
TCGA-FU-A2QG-01A-11D-A18J-09	19:2225393-2225393	C	ENSG00000104885	ENST00000457590	Transcript	missense_variant	242	242	81	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.157)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000299667	Transcript	missense_variant	545	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000303915	Transcript	missense_variant	1210	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=5;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000413658	Transcript	missense_variant	532	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000415068	Transcript	missense_variant	472	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=1;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000424697	Transcript	missense_variant	448	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=3;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000428683	Transcript	missense_variant	687	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=2;SIFT=tolerated(0.37);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	7:100075164-100075164	T	ENSG00000166526	ENST00000449785	Transcript	missense_variant	423	242	81	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=ZNF3;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13089;TSL=3;SIFT=tolerated(0.37);PolyPhen=probably_damaging(0.999)
TCGA-C5-A2LX-01A-11D-A18J-09	9:35078671-35078671	C	ENSG00000221829	ENST00000378643	Transcript	missense_variant	733	241	81	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=FANCG;BIOTYPE=protein_coding;EXON=3/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3588;TSL=1;APPRIS=P2;SIFT=tolerated(0.43);PolyPhen=benign(0.002)
TCGA-C5-A2LX-01A-11D-A18J-09	9:35078671-35078671	C	ENSG00000221829	ENST00000425676	Transcript	missense_variant,NMD_transcript_variant	410	241	81	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=FANCG;BIOTYPE=nonsense_mediated_decay;EXON=3/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3588;TSL=1;SIFT=tolerated(0.35);PolyPhen=benign(0.004)
TCGA-C5-A2LX-01A-11D-A18J-09	9:35078671-35078671	C	ENSG00000221829	ENST00000448890	Transcript	missense_variant	464	241	81	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=FANCG;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3588;TSL=3;APPRIS=A2;SIFT=tolerated(0.37);PolyPhen=benign(0.002)
TCGA-C5-A7UH-01A-11D-A351-09	9:35546762-35546762	A	ENSG00000198853	ENST00000361226	Transcript	missense_variant	379	241	81	V/I	Gta/Ata	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1
TCGA-C5-A7UH-01A-11D-A351-09	9:35546762-35546762	A	ENSG00000198853	ENST00000455600	Transcript	missense_variant	810	241	81	V/I	Gta/Ata	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	12:2797857-2797857	A	ENSG00000004478	ENST00000538622	Transcript	missense_variant	558	244	82	A/T	Gcg/Acg	-	IMPACT=MODERATE;SYMBOL=FKBP4;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3720;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886724-9886724	T	ENSG00000168454	ENST00000306084	Transcript	missense_variant	444	245	82	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=2;APPRIS=A2;SIFT=tolerated(0.56);PolyPhen=benign(0.042)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886724-9886724	T	ENSG00000168454	ENST00000611534	Transcript	missense_variant	694	245	82	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;APPRIS=A2;SIFT=tolerated(0.65);PolyPhen=benign(0.006)
TCGA-LP-A5U2-01A-11D-A28B-09	19:1234584-1234584	C	ENSG00000099625	ENST00000591127	Transcript	missense_variant,NMD_transcript_variant	244	245	82	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=CBARP;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28617;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.879)
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000427250	Transcript	synonymous_variant	267	246	82	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=2
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000605618	Transcript	synonymous_variant	250	246	82	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=1;APPRIS=A2
TCGA-BI-A0VR-01A-11D-A10S-08	11:75727987-75727987	C	ENSG00000166391	ENST00000526712	Transcript	missense_variant	1020	247	83	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=MOGAT2;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23248;TSL=2;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.777)
TCGA-EK-A2RC-01A-11D-A18J-09	18:12699876-12699876	C	ENSG00000101624	ENST00000262127	Transcript	synonymous_variant	475	249	83	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=CEP76;BIOTYPE=protein_coding;EXON=3/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25727;TSL=1;APPRIS=P1
TCGA-EK-A2RC-01A-11D-A18J-09	18:12699876-12699876	C	ENSG00000101624	ENST00000423709	Transcript	synonymous_variant	423	249	83	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=CEP76;BIOTYPE=protein_coding;EXON=3/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25727;TSL=2
TCGA-EK-A2RC-01A-11D-A18J-09	18:12699876-12699876	C	ENSG00000101624	ENST00000587929	Transcript	synonymous_variant,NMD_transcript_variant	457	249	83	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=CEP76;BIOTYPE=nonsense_mediated_decay;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25727;TSL=4
TCGA-MY-A5BD-01A-11D-A26G-09	6:97246639-97246639	C	ENSG00000146263	ENST00000482634	Transcript	missense_variant	247	247	83	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=MMS22L;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21475;TSL=3;SIFT=tolerated(0.6);PolyPhen=benign(0.004)
TCGA-C5-A1MI-01A-11D-A14W-08	9:14672836-14672836	T	ENSG00000175893	ENST00000380916	Transcript	missense_variant	714	247	83	H/N	Cat/Aat	-	IMPACT=MODERATE;SYMBOL=ZDHHC21;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20750;TSL=1;APPRIS=P1;SIFT=tolerated(0.53);PolyPhen=benign(0.266)
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000392800	Transcript	synonymous_variant	509	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=1;APPRIS=P1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000414073	Transcript	synonymous_variant,NMD_transcript_variant	559	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=nonsense_mediated_decay;EXON=4/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000416062	Transcript	synonymous_variant,NMD_transcript_variant	502	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=nonsense_mediated_decay;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000416269	Transcript	synonymous_variant,NMD_transcript_variant	582	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=nonsense_mediated_decay;EXON=4/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=2
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000426341	Transcript	synonymous_variant,NMD_transcript_variant	586	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=nonsense_mediated_decay;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000431418	Transcript	synonymous_variant	476	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=5;APPRIS=P1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000448366	Transcript	synonymous_variant,NMD_transcript_variant	599	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=nonsense_mediated_decay;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=1
TCGA-BI-A0VS-01A-11D-A10S-08	7:151970952-151970952	A	ENSG00000106648	ENST00000616416	Transcript	synonymous_variant	561	255	85	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=GALNTL5;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21725;TSL=5;APPRIS=P1
TCGA-EK-A2PM-01A-11D-A18J-09	1:156051708-156051708	T	ENSG00000160803	ENST00000368309	Transcript	splice_region_variant,synonymous_variant	351	258	86	Q	caG/caA	-	IMPACT=LOW;SYMBOL=UBQLN4;BIOTYPE=protein_coding;EXON=2/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1237;TSL=1;APPRIS=P1
TCGA-EA-A3HQ-01A-11D-A20U-09	11:61291299-61291299	A	ENSG00000167992	ENST00000301770	Transcript	missense_variant,NMD_transcript_variant	314	260	87	C/F	tGc/tTc	rs561200697	IMPACT=MODERATE;SYMBOL=VWCE;BIOTYPE=nonsense_mediated_decay;EXON=3/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26487;TSL=1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.996);GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0010;ExAC_MAF=A:8.237e-05;ExAC_Adj_MAF=A:9.719e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.000987
TCGA-EA-A3HQ-01A-11D-A20U-09	11:61291299-61291299	A	ENSG00000167992	ENST00000335613	Transcript	missense_variant	647	260	87	C/F	tGc/tTc	rs561200697	IMPACT=MODERATE;SYMBOL=VWCE;BIOTYPE=protein_coding;EXON=3/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26487;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.994);GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0010;ExAC_MAF=A:8.237e-05;ExAC_Adj_MAF=A:9.719e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.000987
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000618006	Transcript	stop_gained	276	260	87	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=2;SOMATIC=1,1;PHENO=1,1
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000588003	Transcript	missense_variant	258	260	87	G/A	gGg/gCg	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A5R2-01A-11D-A28B-09	19:5914740-5914740	T	ENSG00000105519	ENST00000222125	Transcript	splice_region_variant,synonymous_variant	261	261	87	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=CAPS;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1487;TSL=5
TCGA-Q1-A5R2-01A-11D-A28B-09	19:5914740-5914740	T	ENSG00000105519	ENST00000588865	Transcript	splice_region_variant,synonymous_variant	395	261	87	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=CAPS;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1487;TSL=2
TCGA-Q1-A5R2-01A-11D-A28B-09	19:5914740-5914740	T	ENSG00000105519	ENST00000618299	Transcript	splice_region_variant,synonymous_variant	411	261	87	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=CAPS;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1487;TSL=1;APPRIS=P1
TCGA-EK-A2PM-01A-11D-A18J-09	6:26020749-26020749	G	ENSG00000275714	ENST00000613854	Transcript	missense_variant	260	260	87	T/S	aCc/aGc	rs536812968	IMPACT=MODERATE;SYMBOL=HIST1H3A;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4766;APPRIS=P1;GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:1.647e-05,C:8.236e-06;ExAC_Adj_MAF=T:1.649e-05,C:8.243e-06;ExAC_AFR_MAF=T:0.0001923,C:0;ExAC_AMR_MAF=T:0,C:0;ExAC_EAS_MAF=T:0,C:0;ExAC_FIN_MAF=T:0,C:0;ExAC_NFE_MAF=T:0,C:0;ExAC_OTH_MAF=T:0,C:0;ExAC_SAS_MAF=T:0,C:6.058e-05
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000318041	Transcript	missense_variant	324	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000441545	Transcript	missense_variant	301	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=5;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000555003	Transcript	missense_variant	1615	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000555981	Transcript	missense_variant	393	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000556531	Transcript	missense_variant	295	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=4
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000556792	Transcript	missense_variant	415	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=4
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000602473	Transcript	missense_variant	259	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000318041	Transcript	missense_variant	324	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000441545	Transcript	missense_variant	301	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=5;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000555003	Transcript	missense_variant	1615	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000555981	Transcript	missense_variant	393	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000556531	Transcript	missense_variant	295	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=4
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000556792	Transcript	missense_variant	415	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=4
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000137070	ENST00000602473	Transcript	missense_variant	259	259	87	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1
TCGA-EA-A50E-01A-21D-A26G-09	11:290393-290393	T	ENSG00000142102	ENST00000409479	Transcript	missense_variant	521	263	88	S/F	tCc/tTc	COSM4822249	IMPACT=MODERATE;SYMBOL=ATHL1;BIOTYPE=protein_coding;EXON=2/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26210;TSL=5;SIFT=deleterious(0.02);PolyPhen=benign(0.025);SOMATIC=1;PHENO=1
TCGA-EA-A50E-01A-21D-A26G-09	11:290393-290393	T	ENSG00000142102	ENST00000409548	Transcript	missense_variant	378	263	88	S/F	tCc/tTc	COSM4822249	IMPACT=MODERATE;SYMBOL=ATHL1;BIOTYPE=protein_coding;EXON=3/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26210;TSL=5;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.707);SOMATIC=1;PHENO=1
TCGA-EK-A2R8-01A-21D-A18J-09	19:50436077-50436077	G	ENSG00000086967	ENST00000357701	Transcript	missense_variant	313	262	88	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=MYBPC2;BIOTYPE=protein_coding;EXON=4/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7550;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2R8-01A-21D-A18J-09	9:15490010-15490010	A	ENSG00000164985	ENST00000380715	Transcript	synonymous_variant	577	264	88	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=4/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1
TCGA-EK-A2R8-01A-21D-A18J-09	9:15490010-15490010	A	ENSG00000164985	ENST00000380716	Transcript	synonymous_variant	580	264	88	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=4/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=5
TCGA-EK-A2R8-01A-21D-A18J-09	9:15490010-15490010	A	ENSG00000164985	ENST00000380733	Transcript	synonymous_variant	608	264	88	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=4/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1;APPRIS=P1
TCGA-EK-A2R8-01A-21D-A18J-09	9:15490010-15490010	A	ENSG00000164985	ENST00000380738	Transcript	synonymous_variant	581	264	88	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=4/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1;APPRIS=P1
TCGA-EK-A2R8-01A-21D-A18J-09	9:15490010-15490010	A	ENSG00000164985	ENST00000397519	Transcript	synonymous_variant	365	264	88	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=3/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000304494	Transcript	missense_variant	534	263	88	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000498124	Transcript	missense_variant	302	263	88	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000579122	Transcript	missense_variant	294	263	88	G/E	gGg/gAg	COSM12492,COSM13632,COSM13709	IMPACT=MODERATE;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=3;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000610623	Transcript	synonymous_variant	626	267	89	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000618944	Transcript	synonymous_variant	626	267	89	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000619186	Transcript	synonymous_variant	626	267	89	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-C5-A1MK-01A-11D-A14W-08	17:39672427-39672427	G	ENSG00000161395	ENST00000619169	Transcript	missense_variant	790	265	89	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=2
TCGA-C5-A7CL-01A-11D-A32I-09	3:52847505-52847505	T	ENSG00000213533	ENST00000485356	Transcript	synonymous_variant	266	267	89	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=TMEM110;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30526;TSL=2
TCGA-C5-A2M1-01A-11D-A18J-09	6:26045675-26045675	T	ENSG00000278272	ENST00000612966	Transcript	missense_variant	265	265	89	A/S	Gcg/Tcg	-	IMPACT=MODERATE;SYMBOL=HIST1H3C;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4768;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.996)
TCGA-Q1-A6DT-01A-11D-A32I-09	9:117854-117854	A	ENSG00000170122	ENST00000382500	Transcript	missense_variant	351	266	89	P/L	cCg/cTg	rs763806223,COSM4850898,COSM4850899	IMPACT=MODERATE;SYMBOL=FOXD4;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3805;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.083);ExAC_MAF=T:8.246e-06;ExAC_Adj_MAF=T:8.45e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.058e-05;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000591894	Transcript	missense_variant,NMD_transcript_variant	267	269	90	G/A	gGg/gCg	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=nonsense_mediated_decay;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=2;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A7UH-01A-11D-A351-09	19:3193402-3193402	T	ENSG00000125912	ENST00000590671	Transcript	missense_variant	704	272	91	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=NCLN;BIOTYPE=protein_coding;EXON=3/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26923;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.498)
TCGA-Q1-A73P-01A-11D-A32I-09	X:47836511-47836511	A	ENSG00000279988	ENST00000624399	Transcript	synonymous_variant	283	273	91	G	ggA/ggT	-	IMPACT=LOW;SYMBOL=AL022578.1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=Clone_based_ensembl_gene;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886754-9886754	T	ENSG00000168454	ENST00000306084	Transcript	missense_variant	474	275	92	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=2;APPRIS=A2;SIFT=tolerated(0.79);PolyPhen=benign(0.105)
TCGA-MY-A5BD-01A-11D-A26G-09	18:9886754-9886754	T	ENSG00000168454	ENST00000611534	Transcript	missense_variant	724	275	92	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;APPRIS=A2;SIFT=tolerated(0.76);PolyPhen=benign(0.014)
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000588003	Transcript	stop_gained	272	274	92	G/*	Gga/Tga	-	IMPACT=HIGH;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3
TCGA-WL-A834-01A-11D-A351-09	6:26107819-26107819	A	ENSG00000187475	ENST00000338379	Transcript	missense_variant	318	275	92	G/V	gGg/gTg	-	IMPACT=MODERATE;SYMBOL=HIST1H1T;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4720;APPRIS=P1
TCGA-EK-A2RJ-01A-11D-A18J-09	6:26156664-26156664	T	ENSG00000168298	ENST00000304218	Transcript	missense_variant	311	274	92	A/S	Gcc/Tcc	-	IMPACT=MODERATE;SYMBOL=HIST1H1E;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4718;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.444)
TCGA-C5-A1MH-01A-11D-A14W-08	1:228487765-228487765	G	ENSG00000168159	ENST00000305943	Transcript	missense_variant	705	277	93	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=RNF187;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27146;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.978)
TCGA-DS-A0VM-01A-11D-A10S-08	19:1510233-1510233	G	ENSG00000185761	ENST00000330475	Transcript	missense_variant	722	278	93	F/S	tTc/tCc	-	IMPACT=MODERATE;SYMBOL=ADAMTSL5;BIOTYPE=protein_coding;EXON=5/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27912;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-C5-A7UH-01A-11D-A351-09	19:3119049-3119049	A	ENSG00000088256	ENST00000587636	Transcript	missense_variant	277	278	93	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=GNA11;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4379;TSL=5
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000347609	Transcript	synonymous_variant	279	279	93	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=1;APPRIS=A2
TCGA-EK-A2H0-01A-11D-A17W-09	19:2851618-2851618	C	ENSG00000186300	ENST00000334241	Transcript	missense_variant	419	281	94	G/A	gGa/gCa	rs746667055	IMPACT=MODERATE;SYMBOL=ZNF555;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28382;TSL=1;APPRIS=P3;SIFT=deleterious(0.03);PolyPhen=benign(0.079);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.416e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.696e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2H0-01A-11D-A17W-09	19:2851618-2851618	C	ENSG00000186300	ENST00000591539	Transcript	missense_variant	410	281	94	G/A	gGa/gCa	rs746667055	IMPACT=MODERATE;SYMBOL=ZNF555;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28382;TSL=2;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=benign(0.197);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.416e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.696e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-LP-A5U2-01A-11D-A28B-09	19:5787352-5787352	T	ENSG00000141994	ENST00000591560	Transcript	missense_variant,NMD_transcript_variant	280	280	94	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=nonsense_mediated_decay;EXON=3/7;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=5;SIFT=tolerated(1);PolyPhen=benign(0.007)
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000553360	Transcript	synonymous_variant,NMD_transcript_variant	285	285	95	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=nonsense_mediated_decay;EXON=6/16;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	16:56485629-56485629	C	ENSG00000125124	ENST00000564459	Transcript	missense_variant	283	283	95	P/A	Cca/Gca	COSM3421046	IMPACT=MODERATE;SYMBOL=BBS2;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:967;TSL=3;SOMATIC=1;PHENO=1
TCGA-C5-A1BK-01B-11D-A13W-08	18:2579017-2579017	C	ENSG00000080986	ENST00000576274	Transcript	missense_variant	285	285	95	M/I	atG/atC	-	IMPACT=MODERATE;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=3
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000591894	Transcript	stop_gained,NMD_transcript_variant	281	283	95	G/*	Gga/Tga	-	IMPACT=HIGH;SYMBOL=IZUMO4;BIOTYPE=nonsense_mediated_decay;EXON=3/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=2
TCGA-DG-A2KM-01A-11D-A17W-09	1:36307229-36307229	C	ENSG00000214193	ENST00000373139	Transcript	missense_variant	323	289	97	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=SH3D21;BIOTYPE=protein_coding;EXON=4/14;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26236;TSL=5;APPRIS=A2;SIFT=tolerated(0.45);PolyPhen=possibly_damaging(0.553)
TCGA-DG-A2KM-01A-11D-A17W-09	1:36307229-36307229	C	ENSG00000214193	ENST00000453908	Transcript	missense_variant	317	289	97	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=SH3D21;BIOTYPE=protein_coding;EXON=4/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26236;TSL=5;APPRIS=P5;SIFT=tolerated(0.29);PolyPhen=possibly_damaging(0.894)
TCGA-EK-A2R9-01A-11D-A18J-09	22:35726358-35726358	G	ENSG00000128313	ENST00000249044	Transcript	missense_variant	290	290	97	A/G	gCg/gGg	rs779236160	IMPACT=MODERATE;SYMBOL=APOL5;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14869;TSL=1;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=probably_damaging(0.921)
TCGA-C5-A3HD-01B-11D-A20U-09	5:150696640-150696640	A	ENSG00000086589	ENST00000447771	Transcript	synonymous_variant	329	291	97	I	atC/atT	-	IMPACT=LOW;SYMBOL=RBM22;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25503;TSL=2
TCGA-Q1-A73P-01A-11D-A32I-09	6:31557651-31557651	T	ENSG00000204498	ENST00000376146	Transcript	synonymous_variant	405	289	97	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=NFKBIL1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7800;TSL=4
TCGA-BI-A0VR-01A-11D-A10S-08	11:433372-433372	T	ENSG00000185101	ENST00000332826	Transcript	missense_variant	377	292	98	E/K	Gag/Aag	COSM458640	IMPACT=MODERATE;SYMBOL=ANO9;BIOTYPE=protein_coding;EXON=4/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20679;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.029);SOMATIC=1;PHENO=1
TCGA-DG-A2KH-01A-21D-A22X-09	15:65411147-65411147	T	ENSG00000103742	ENST00000352385	Transcript	synonymous_variant	504	294	98	P	ccG/ccA	-	IMPACT=LOW;SYMBOL=IGDCC4;BIOTYPE=protein_coding;EXON=2/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13770;TSL=1;APPRIS=P1
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000313486	Transcript	missense_variant,splice_region_variant	548	292	98	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=5/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=5;APPRIS=P2;SIFT=tolerated(0.5);PolyPhen=benign(0.005)
TCGA-C5-A1MH-01A-11D-A14W-08	5:224502-224502	T	ENSG00000073578	ENST00000264932	Transcript	missense_variant	408	293	98	S/L	tCa/tTa	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=3/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1MH-01A-11D-A14W-08	5:224502-224502	T	ENSG00000073578	ENST00000504309	Transcript	missense_variant	346	293	98	S/L	tCa/tTa	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=3/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1MH-01A-11D-A14W-08	5:224502-224502	T	ENSG00000073578	ENST00000510361	Transcript	missense_variant	331	293	98	S/L	tCa/tTa	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=3/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1MH-01A-11D-A14W-08	5:224502-224502	T	ENSG00000073578	ENST00000617470	Transcript	missense_variant	408	293	98	S/L	tCa/tTa	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=3/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.008)
TCGA-Q1-A6DT-01A-11D-A32I-09	5:23521142-23521142	G	ENSG00000164256	ENST00000635252	Transcript	synonymous_variant	598	294	98	E	gaA/gaG	-	IMPACT=LOW;SYMBOL=PRDM9;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13994;TSL=5
TCGA-C5-A1BK-01B-11D-A13W-08	19:6755149-6755149	C	ENSG00000125731	ENST00000437152	Transcript	synonymous_variant	430	297	99	L	ctC/ctG	-	IMPACT=LOW;SYMBOL=SH2D3A;BIOTYPE=protein_coding;EXON=4/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16885;TSL=2
TCGA-EK-A2RO-01A-11D-A18J-09	20:2816721-2816721	C	ENSG00000198326	ENST00000361033	Transcript	missense_variant	329	296	99	L/P	cTa/cCa	-	IMPACT=MODERATE;SYMBOL=TMEM239;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:40044;TSL=2;SIFT=deleterious_low_confidence(0.01);PolyPhen=probably_damaging(0.929)
TCGA-EK-A2RJ-01A-11D-A18J-09	6:26251947-26251947	C	ENSG00000275713	ENST00000619466	Transcript	synonymous_variant	297	297	99	V	gtG/gtC	-	IMPACT=LOW;SYMBOL=HIST1H2BH;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4755;APPRIS=P1
TCGA-EK-A3GJ-01A-21D-A20U-09	6:33403358-33403358	C	ENSG00000237649	ENST00000428849	Transcript	missense_variant	745	295	99	V/L	Gtt/Ctt	rs181827069	IMPACT=MODERATE;SYMBOL=KIFC1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6389;TSL=1;APPRIS=P1;SIFT=tolerated(0.24);PolyPhen=benign(0.005);GMAF=C:0.0002;AFR_MAF=C:0.0008;AMR_MAF=C:0.0000;EAS_MAF=C:0.0000;EUR_MAF=C:0.0000;SAS_MAF=C:0.0000;ExAC_MAF=C:8.236e-06,AT:8.236e-06;ExAC_Adj_MAF=C:8.237e-06,AT:8.237e-06;ExAC_AFR_MAF=C:9.61e-05,AT:0;ExAC_AMR_MAF=C:0,AT:0;ExAC_EAS_MAF=C:0,AT:0;ExAC_FIN_MAF=C:0,AT:0;ExAC_NFE_MAF=C:0,AT:1.498e-05;ExAC_OTH_MAF=C:0,AT:0;ExAC_SAS_MAF=C:0,AT:0
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000356521	Transcript	stop_gained	384	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;APPRIS=P1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000377400	Transcript	stop_gained	473	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;APPRIS=P1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000377447	Transcript	stop_gained	351	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000382393	Transcript	stop_gained	371	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000382447	Transcript	stop_gained	347	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000465014	Transcript	stop_gained,NMD_transcript_variant	368	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=nonsense_mediated_decay;EXON=3/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000612045	Transcript	stop_gained,NMD_transcript_variant	338	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=nonsense_mediated_decay;EXON=3/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000613508	Transcript	stop_gained	334	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=protein_coding;EXON=3/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	9:173313-173313	A	ENSG00000172785	ENST00000616944	Transcript	stop_gained,NMD_transcript_variant	378	295	99	E/*	Gag/Tag	COSM4828359,COSM4828360,COSM4828361	IMPACT=HIGH;SYMBOL=CBWD1;BIOTYPE=nonsense_mediated_decay;EXON=3/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17134;TSL=5;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000540035	Transcript	missense_variant	507	298	100	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.141);SOMATIC=1;PHENO=1
TCGA-C5-A1MK-01A-11D-A14W-08	18:619248-619248	A	ENSG00000079101	ENST00000620089	Transcript	missense_variant	298	298	100	E/K	Gag/Aag	COSM4827151	IMPACT=MODERATE;SYMBOL=CLUL1;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2096;TSL=5;SIFT=deleterious(0.01);PolyPhen=benign(0.141);SOMATIC=1;PHENO=1
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000205135	Transcript	synonymous_variant	299	300	100	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=5/15;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=1;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000205135	Transcript	synonymous_variant	299	300	100	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=5/15;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=1;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000554890	Transcript	synonymous_variant	404	303	101	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=6/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000553360	Transcript	missense_variant,NMD_transcript_variant	302	302	101	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=nonsense_mediated_decay;EXON=6/16;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5;SIFT=deleterious(0.05);PolyPhen=probably_damaging(0.954)
TCGA-EK-A2R7-01A-11D-A18J-09	3:126733114-126733114	A	ENSG00000159685	ENST00000290913	Transcript	synonymous_variant	396	303	101	L	ctG/ctA	-	IMPACT=LOW;SYMBOL=CHCHD6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28184;TSL=1;APPRIS=P2
TCGA-EK-A2R7-01A-11D-A18J-09	3:126733114-126733114	A	ENSG00000159685	ENST00000503119	Transcript	synonymous_variant,NMD_transcript_variant	376	303	101	L	ctG/ctA	-	IMPACT=LOW;SYMBOL=CHCHD6;BIOTYPE=nonsense_mediated_decay;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28184;TSL=1
TCGA-EK-A2R7-01A-11D-A18J-09	3:126733114-126733114	A	ENSG00000159685	ENST00000508789	Transcript	synonymous_variant	375	303	101	L	ctG/ctA	-	IMPACT=LOW;SYMBOL=CHCHD6;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28184;TSL=1;APPRIS=A2
TCGA-Q1-A73S-01A-11D-A33O-09	19:2917022-2917022	T	ENSG00000171970	ENST00000522294	Transcript	missense_variant	576	305	102	C/F	tGt/tTt	COSM994330	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=5;SIFT=tolerated(0.71);PolyPhen=benign(0.117);SOMATIC=1;PHENO=1
TCGA-Q1-A73S-01A-11D-A33O-09	19:2917022-2917022	T	ENSG00000171970	ENST00000523428	Transcript	missense_variant	450	305	102	C/F	tGt/tTt	COSM994330	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=2;SIFT=tolerated(0.73);PolyPhen=benign(0.117);SOMATIC=1;PHENO=1
TCGA-Q1-A73S-01A-11D-A33O-09	19:2917022-2917022	T	ENSG00000171970	ENST00000590305	Transcript	missense_variant	475	305	102	C/F	tGt/tTt	COSM994330	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=2;SIFT=tolerated(0.73);PolyPhen=benign(0.117);SOMATIC=1;PHENO=1
TCGA-EX-A449-01A-11D-A243-09	2:119915184-119915184	A	ENSG00000088179	ENST00000430976	Transcript	missense_variant,NMD_transcript_variant	304	305	102	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=PTPN4;BIOTYPE=nonsense_mediated_decay;EXON=4/20;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9656;TSL=5
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000530628	Transcript	synonymous_variant	386	306	102	G	ggG/ggA	COSM12492,COSM13632,COSM13709	IMPACT=LOW;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=5;APPRIS=P1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:21971096-21971096	T	ENSG00000147889	ENST00000579755	Transcript	synonymous_variant	599	306	102	G	ggG/ggA	COSM12492,COSM13632,COSM13709	IMPACT=LOW;SYMBOL=CDKN2A;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1787;TSL=1;APPRIS=P1;SOMATIC=1,1,1;PHENO=1,1,1
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000346916	Transcript	stop_gained	546	308	103	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;SOMATIC=1,1;PHENO=1,1
TCGA-EA-A5ZF-01A-11D-A28B-09	19:1063796-1063796	A	ENSG00000064687	ENST00000612569	Transcript	missense_variant	307	307	103	G/S	Ggc/Agc	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991)
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360225-1360225	T	ENSG00000160953	ENST00000415183	Transcript	missense_variant	333	307	103	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=A2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360225-1360225	T	ENSG00000160953	ENST00000591337	Transcript	missense_variant	532	307	103	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360225-1360225	T	ENSG00000160953	ENST00000591806	Transcript	missense_variant	383	307	103	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=P2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360225-1360225	T	ENSG00000160953	ENST00000627377	Transcript	missense_variant	307	307	103	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	19:1510233-1510233	G	ENSG00000185761	ENST00000585804	Transcript	missense_variant	491	308	103	F/S	tTc/tCc	-	IMPACT=MODERATE;SYMBOL=ADAMTSL5;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27912;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-DS-A0VM-01A-11D-A10S-08	19:1510233-1510233	G	ENSG00000185761	ENST00000586272	Transcript	missense_variant	412	308	103	F/S	tTc/tCc	-	IMPACT=MODERATE;SYMBOL=ADAMTSL5;BIOTYPE=protein_coding;EXON=6/8;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27912;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-DS-A0VM-01A-11D-A10S-08	19:1510233-1510233	G	ENSG00000185761	ENST00000590562	Transcript	missense_variant	457	308	103	F/S	tTc/tCc	-	IMPACT=MODERATE;SYMBOL=ADAMTSL5;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27912;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-EK-A2R8-01A-21D-A18J-09	9:35748398-35748398	C	ENSG00000070610	ENST00000378094	Transcript	missense_variant	821	307	103	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=GBA2;BIOTYPE=protein_coding;EXON=1/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18986;TSL=1;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	9:35748398-35748398	C	ENSG00000070610	ENST00000378103	Transcript	missense_variant	831	307	103	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=GBA2;BIOTYPE=protein_coding;EXON=1/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18986;TSL=1;APPRIS=P2
TCGA-EK-A2RN-01A-12D-A20U-09	19:3526310-3526310	A	ENSG00000105325	ENST00000313639	Transcript	missense_variant	311	311	104	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.01)
TCGA-EK-A2RN-01A-12D-A20U-09	19:3526310-3526310	A	ENSG00000105325	ENST00000395095	Transcript	missense_variant	311	311	104	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1;APPRIS=A1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.84)
TCGA-EK-A2RN-01A-12D-A20U-09	19:3526310-3526310	A	ENSG00000105325	ENST00000441788	Transcript	missense_variant	547	311	104	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=5/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1;APPRIS=P3;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.882)
TCGA-EK-A2RN-01A-12D-A20U-09	19:3526310-3526310	A	ENSG00000105325	ENST00000591290	Transcript	missense_variant,NMD_transcript_variant	317	311	104	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=nonsense_mediated_decay;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=5;SIFT=deleterious(0);PolyPhen=benign(0.192)
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000309660	Transcript	missense_variant	407	313	105	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=1;SIFT=tolerated(0.1);PolyPhen=benign(0.051)
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000327283	Transcript	missense_variant	510	313	105	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=1;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.064)
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000353319	Transcript	missense_variant	453	313	105	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=1;SIFT=tolerated(0.15);PolyPhen=benign(0.01)
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000591115	Transcript	missense_variant	386	313	105	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=protein_coding;EXON=4/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=1;SIFT=tolerated(0.12);PolyPhen=benign(0.171)
TCGA-C5-A1MH-01A-11D-A14W-08	18:12830990-12830990	G	ENSG00000175354	ENST00000592776	Transcript	missense_variant,NMD_transcript_variant	449	313	105	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=PTPN2;BIOTYPE=nonsense_mediated_decay;EXON=4/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9650;TSL=5;SIFT=tolerated(0.14);PolyPhen=benign(0.051)
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000361757	Transcript	missense_variant	551	313	105	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=5/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=1;APPRIS=P4;SIFT=deleterious_low_confidence(0.01);PolyPhen=probably_damaging(0.99)
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000587024	Transcript	missense_variant	524	313	105	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=5/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.995)
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000587655	Transcript	missense_variant	892	313	105	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=3;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.99)
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000590176	Transcript	missense_variant	490	313	105	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.99)
TCGA-EK-A2R8-01A-21D-A18J-09	19:1127732-1127732	C	ENSG00000064932	ENST00000590998	Transcript	missense_variant	490	313	105	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.99)
TCGA-MU-A5YI-01A-11D-A32I-09	6:116558139-116558139	T	ENSG00000164451	ENST00000368597	Transcript	stop_lost	582	315	105	*/Y	taG/taT	rs753371540	IMPACT=HIGH;SYMBOL=FAM26D;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21094;TSL=1;ExAC_MAF=C:4.118e-05;ExAC_Adj_MAF=C:4.119e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:7.494e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-MU-A5YI-01A-11D-A32I-09	6:116558139-116558139	T	ENSG00000164451	ENST00000452373	Transcript	stop_lost	513	315	105	*/Y	taG/taT	rs753371540	IMPACT=HIGH;SYMBOL=FAM26D;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21094;TSL=4;ExAC_MAF=C:4.118e-05;ExAC_Adj_MAF=C:4.119e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:7.494e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-Q1-A5R2-01A-11D-A28B-09	7:100463436-100463436	A	ENSG00000185955	ENST00000332375	Transcript	missense_variant	560	314	105	T/M	aCg/aTg	-	IMPACT=MODERATE;SYMBOL=C7orf61;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22135;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=probably_damaging(0.964)
TCGA-C5-A3HF-01A-11D-A20U-09	19:4157158-4157158	T	ENSG00000060566	ENST00000595923	Transcript	missense_variant	425	317	106	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=A2;SIFT=tolerated(0.29);PolyPhen=benign(0.121)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000595139	Transcript	missense_variant	398	317	106	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.983)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000554890	Transcript	missense_variant	421	320	107	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=6/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.908)
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000395296	Transcript	missense_variant	322	319	107	G/R	Gga/Cga	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=2;APPRIS=A2;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000395301	Transcript	missense_variant	396	319	107	G/R	Gga/Cga	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=1;APPRIS=A2;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000395307	Transcript	missense_variant	383	319	107	G/R	Gga/Cga	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=1;APPRIS=P3;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A3HF-01A-11D-A20U-09	19:4157158-4157158	T	ENSG00000060566	ENST00000078445	Transcript	missense_variant	467	320	107	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=P3;SIFT=tolerated(0.32);PolyPhen=benign(0.122)
TCGA-C5-A3HF-01A-11D-A20U-09	19:4157158-4157158	T	ENSG00000060566	ENST00000602147	Transcript	missense_variant	400	320	107	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;SIFT=tolerated(0.23);PolyPhen=benign(0.19)
TCGA-C5-A3HF-01A-11D-A20U-09	19:4157158-4157158	T	ENSG00000060566	ENST00000602257	Transcript	missense_variant	400	320	107	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=A2;SIFT=tolerated(0.34);PolyPhen=benign(0.005)
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000634772	Transcript	missense_variant	317	319	107	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LI-01A-11D-A20U-09	15:43815050-43815050	G	ENSG00000140259	ENST00000267812	Transcript	synonymous_variant	557	324	108	V	gtG/gtC	-	IMPACT=LOW;SYMBOL=MFAP1;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7032;TSL=1;APPRIS=P1
TCGA-Q1-A6DW-01A-11D-A32I-09	19:643436-643436	G	ENSG00000070388	ENST00000586042	Transcript	missense_variant	353	322	108	P/A	Ccg/Gcg	COSM4855889	IMPACT=MODERATE;SYMBOL=FGF22;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3679;TSL=1;SIFT=deleterious(0.04);PolyPhen=benign(0.061);SOMATIC=1;PHENO=1
TCGA-C5-A7UH-01A-11D-A351-09	6:26158492-26158492	T	ENSG00000158373	ENST00000289316	Transcript	missense_variant	347	323	108	G/V	gGc/gTc	rs764691712	IMPACT=MODERATE;SYMBOL=HIST1H2BD;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4747;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.024);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.252e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0.0001156;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A7UH-01A-11D-A351-09	6:26158492-26158492	T	ENSG00000158373	ENST00000377777	Transcript	missense_variant	347	323	108	G/V	gGc/gTc	rs764691712	IMPACT=MODERATE;SYMBOL=HIST1H2BD;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4747;APPRIS=P1;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.024);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.252e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0.0001156;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000526545	Transcript	missense_variant	327	327	109	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=3;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1BF-01B-11D-A13W-08	19:617576-617576	A	ENSG00000099821	ENST00000590336	Transcript	missense_variant	324	326	109	C/F	tGc/tTc	COSM4836722,COSM4836723	IMPACT=MODERATE;SYMBOL=POLRMT;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9200;TSL=3;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.972);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LC-01A-11D-A20U-09	9:21187205-21187205	A	ENSG00000236637	ENST00000421715	Transcript	synonymous_variant	467	327	109	S	tcC/tcT	rs140503499	IMPACT=LOW;SYMBOL=IFNA4;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5425;APPRIS=P1;GMAF=C:0.0022;AFR_MAF=C:0.0083;AMR_MAF=C:0.0000;EAS_MAF=C:0.0000;EUR_MAF=C:0.0000;SAS_MAF=C:0.0000;AA_MAF=C:0.0055;EA_MAF=C:0;ExAC_MAF=A:8.248e-06,C:3.464e-04;ExAC_Adj_MAF=A:8.646e-06,C:0.0003545;ExAC_AFR_MAF=A:0,C:0.004185;ExAC_AMR_MAF=A:0,C:0.0002642;ExAC_EAS_MAF=A:0,C:0;ExAC_FIN_MAF=A:0,C:0;ExAC_NFE_MAF=A:0,C:0;ExAC_OTH_MAF=A:0,C:0;ExAC_SAS_MAF=A:6.324e-05,C:0
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000554507	Transcript	synonymous_variant	442	330	110	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=6/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1
TCGA-BI-A0VS-01A-11D-A10S-08	5:21975288-21975288	C	ENSG00000154162	ENST00000382254	Transcript	missense_variant	1416	329	110	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CDH12;BIOTYPE=protein_coding;EXON=6/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1751;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-BI-A0VS-01A-11D-A10S-08	5:21975288-21975288	C	ENSG00000154162	ENST00000504376	Transcript	missense_variant	1040	329	110	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CDH12;BIOTYPE=protein_coding;EXON=5/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1751;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-BI-A0VS-01A-11D-A10S-08	5:21975288-21975288	C	ENSG00000154162	ENST00000522262	Transcript	missense_variant	852	329	110	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CDH12;BIOTYPE=protein_coding;EXON=4/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1751;TSL=2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.998)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000433359	Transcript	missense_variant	540	329	110	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;SIFT=tolerated(0.19);PolyPhen=benign(0.044)
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000395296	Transcript	synonymous_variant	336	333	111	R	cgG/cgT	-	IMPACT=LOW;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=2;APPRIS=A2
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000395301	Transcript	synonymous_variant	410	333	111	R	cgG/cgT	-	IMPACT=LOW;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=1;APPRIS=A2
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000395307	Transcript	synonymous_variant	397	333	111	R	cgG/cgT	-	IMPACT=LOW;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=1;APPRIS=P3
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000589321	Transcript	synonymous_variant,NMD_transcript_variant	331	333	111	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CACTIN;BIOTYPE=nonsense_mediated_decay;EXON=3/6;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=5
TCGA-EK-A2H1-01A-11D-A17W-09	5:41927154-41927154	T	ENSG00000151876	ENST00000281623	Transcript	missense_variant	387	331	111	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=FBXO4;BIOTYPE=protein_coding;EXON=2/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13583;TSL=1;APPRIS=P1
TCGA-EK-A2H1-01A-11D-A17W-09	5:41927154-41927154	T	ENSG00000151876	ENST00000296812	Transcript	missense_variant	387	331	111	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=FBXO4;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13583;TSL=1
TCGA-EK-A2H1-01A-11D-A17W-09	5:41927154-41927154	T	ENSG00000151876	ENST00000504463	Transcript	missense_variant,NMD_transcript_variant	342	331	111	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=FBXO4;BIOTYPE=nonsense_mediated_decay;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13583;TSL=5
TCGA-EK-A2H1-01A-11D-A17W-09	5:41927154-41927154	T	ENSG00000151876	ENST00000509134	Transcript	missense_variant	340	331	111	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=FBXO4;BIOTYPE=protein_coding;EXON=2/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13583;TSL=5
TCGA-FU-A3NI-01A-11D-A21Q-09	X:153694354-153694354	A	ENSG00000130821	ENST00000413787	Transcript	missense_variant	332	332	111	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=5
TCGA-FU-A40J-01A-11D-A243-09	10:49934112-49934112	T	ENSG00000227345	ENST00000402038	Transcript	synonymous_variant	472	336	112	S	tcG/tcA	-	IMPACT=LOW;SYMBOL=PARG;BIOTYPE=protein_coding;EXON=4/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8605;TSL=5;APPRIS=P1
TCGA-FU-A40J-01A-11D-A243-09	10:49934112-49934112	T	ENSG00000227345	ENST00000616448	Transcript	synonymous_variant	596	336	112	S	tcG/tcA	-	IMPACT=LOW;SYMBOL=PARG;BIOTYPE=protein_coding;EXON=3/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8605;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	15:48796084-48796084	C	ENSG00000103995	ENST00000325747	Transcript	missense_variant	415	338	113	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CEP152;BIOTYPE=protein_coding;EXON=5/25;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29298;TSL=1;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000276935	Transcript	missense_variant	338	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=5
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000327883	Transcript	missense_variant	471	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=1
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000380548	Transcript	missense_variant	677	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=5;APPRIS=P1
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000380566	Transcript	missense_variant	402	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=1
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000380570	Transcript	missense_variant	418	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=1
TCGA-EK-A2R8-01A-21D-A18J-09	9:18574130-18574130	A	ENSG00000178031	ENST00000431052	Transcript	missense_variant	427	338	113	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=2
TCGA-EK-A3GJ-01A-21D-A20U-09	9:19346894-19346894	T	ENSG00000137145	ENST00000361024	Transcript	synonymous_variant	339	339	113	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=1/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=1
TCGA-EA-A3HT-01A-61D-A21Q-09	X:16170721-16170721	G	ENSG00000182798	ENST00000400003	Transcript	synonymous_variant	636	339	113	T	acA/acG	-	IMPACT=LOW;SYMBOL=MAGEB17;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17418;TSL=5;APPRIS=P1
TCGA-EA-A3HT-01A-61D-A21Q-09	X:16170721-16170721	G	ENSG00000182798	ENST00000400004	Transcript	synonymous_variant	691	339	113	T	acA/acG	-	IMPACT=LOW;SYMBOL=MAGEB17;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17418;TSL=2;APPRIS=P1
TCGA-C5-A1BE-01B-11D-A13W-08	18:8380408-8380408	A	ENSG00000173482	ENST00000400060	Transcript	missense_variant	3835	341	114	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=28/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=5
TCGA-C5-A1MK-01A-11D-A14W-08	9:34637231-34637231	C	ENSG00000147955	ENST00000277010	Transcript	missense_variant	415	341	114	P/R	cCc/cGc	-	IMPACT=MODERATE;SYMBOL=SIGMAR1;BIOTYPE=protein_coding;EXON=2/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8157;TSL=1;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	9:34637231-34637231	C	ENSG00000147955	ENST00000477726	Transcript	missense_variant	453	341	114	P/R	cCc/cGc	-	IMPACT=MODERATE;SYMBOL=SIGMAR1;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8157;TSL=1
TCGA-EK-A3GM-01A-11D-A20U-09	12:21531188-21531188	A	ENSG00000134548	ENST00000256969	Transcript	missense_variant	510	344	115	S/N	aGc/aAc	rs768694547	IMPACT=MODERATE;SYMBOL=SPX;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28139;TSL=1;APPRIS=P1;ExAC_MAF=T:1.648e-05;ExAC_Adj_MAF=T:2.06e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0002712;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A6DW-01A-11D-A32I-09	19:643436-643436	G	ENSG00000070388	ENST00000215530	Transcript	missense_variant	376	345	115	F/L	ttC/ttG	COSM4855889	IMPACT=MODERATE;SYMBOL=FGF22;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3679;TSL=1;APPRIS=P1;SIFT=tolerated(0.34);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-FU-A40J-01A-11D-A243-09	2:669621-669621	G	ENSG00000151353	ENST00000355654	Transcript	missense_variant	730	343	115	E/Q	Gag/Cag	COSM4843925,COSM4843926	IMPACT=MODERATE;SYMBOL=TMEM18;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25257;TSL=1;APPRIS=A2;SIFT=tolerated(0.67);PolyPhen=unknown(0);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000419197	Transcript	synonymous_variant	490	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=2;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000527958	Transcript	synonymous_variant	507	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;APPRIS=P1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000529887	Transcript	synonymous_variant	476	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000530272	Transcript	synonymous_variant	430	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000419197	Transcript	synonymous_variant	490	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=2;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000527958	Transcript	synonymous_variant	507	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;APPRIS=P1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000529887	Transcript	synonymous_variant	476	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1BI-01B-11D-A13W-08	11:117163829-117163829	T	ENSG00000168092	ENST00000530272	Transcript	synonymous_variant	430	348	116	G	ggC/ggT	rs773437937	IMPACT=LOW;SYMBOL=PAFAH1B2;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8575;TSL=1;ExAC_MAF=C:3.295e-05;ExAC_Adj_MAF=C:3.295e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:5.993e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000554507	Transcript	missense_variant	459	347	116	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=6/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.899)
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000504290	Transcript	synonymous_variant	626	348	116	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000504937	Transcript	synonymous_variant	626	348	116	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000509690	Transcript	synonymous_variant	480	348	116	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=4;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000510385	Transcript	synonymous_variant	626	348	116	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000263097	Transcript	synonymous_variant	429	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=1;APPRIS=P1
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000348419	Transcript	synonymous_variant	400	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=2
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000562958	Transcript	synonymous_variant	381	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=2
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000565096	Transcript	synonymous_variant	392	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=2
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000569352	Transcript	synonymous_variant,NMD_transcript_variant	381	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=nonsense_mediated_decay;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=5
TCGA-EA-A50E-01A-21D-A26G-09	19:1032654-1032654	G	ENSG00000064666	ENST00000606983	Transcript	synonymous_variant	348	348	116	K	aaA/aaG	-	IMPACT=LOW;SYMBOL=CNN2;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2156;TSL=3
TCGA-C5-A7CK-01A-11D-A32I-09	6:4130608-4130608	T	ENSG00000198721	ENST00000380120	Transcript	missense_variant,NMD_transcript_variant	377	347	116	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=ECI2;BIOTYPE=nonsense_mediated_decay;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14601;TSL=2;SIFT=deleterious_low_confidence(0.02);PolyPhen=unknown(0)
TCGA-C5-A2LX-01A-11D-A18J-09	18:9886830-9886830	G	ENSG00000168454	ENST00000306084	Transcript	synonymous_variant	550	351	117	G	ggC/ggG	-	IMPACT=LOW;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=2;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	18:9886830-9886830	G	ENSG00000168454	ENST00000611534	Transcript	synonymous_variant	800	351	117	G	ggC/ggG	-	IMPACT=LOW;SYMBOL=TXNDC2;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16470;TSL=5;APPRIS=A2
TCGA-C5-A3HE-01A-21D-A22X-09	19:1220433-1220433	A	ENSG00000118046	ENST00000585851	Transcript	synonymous_variant	396	351	117	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=3
TCGA-EK-A3GN-01A-11D-A20U-09	19:1496286-1496286	A	ENSG00000115255	ENST00000233596	Transcript	missense_variant,splice_region_variant	873	350	117	S/Y	tCc/tAc	-	IMPACT=MODERATE;SYMBOL=REEP6;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30078;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.855)
TCGA-MY-A5BD-01A-11D-A26G-09	19:14073659-14073659	T	ENSG00000141854	ENST00000587086	Transcript	missense_variant	886	350	117	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=MIR1199;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50081;TSL=1;APPRIS=P2;SIFT=tolerated(0.2);PolyPhen=benign(0.264)
TCGA-EK-A2R8-01A-21D-A18J-09	6:47680153-47680153	T	ENSG00000164393	ENST00000398742	Transcript	missense_variant	399	350	117	R/M	aGg/aTg	rs770790899	IMPACT=MODERATE;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=A2;ExAC_MAF=C:8.277e-06;ExAC_Adj_MAF=C:8.291e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:6.06e-05
TCGA-EK-A2R8-01A-21D-A18J-09	6:47680153-47680153	T	ENSG00000164393	ENST00000467205	Transcript	missense_variant,NMD_transcript_variant	626	350	117	R/M	aGg/aTg	rs770790899	IMPACT=MODERATE;SYMBOL=ADGRF2;BIOTYPE=nonsense_mediated_decay;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;ExAC_MAF=C:8.277e-06;ExAC_Adj_MAF=C:8.291e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:6.06e-05
TCGA-EK-A2R8-01A-21D-A18J-09	6:47680153-47680153	T	ENSG00000164393	ENST00000507065	Transcript	missense_variant	628	350	117	R/M	aGg/aTg	rs770790899	IMPACT=MODERATE;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=5;APPRIS=A2;ExAC_MAF=C:8.277e-06;ExAC_Adj_MAF=C:8.291e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:6.06e-05
TCGA-MU-A51Y-01A-11D-A26G-09	9:21409527-21409527	A	ENSG00000120242	ENST00000380205	Transcript	synonymous_variant	381	351	117	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=IFNA8;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5429;APPRIS=P1
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000447792	Transcript	missense_variant	348	350	117	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=3
TCGA-C5-A1BK-01B-11D-A13W-08	18:2577797-2577797	C	ENSG00000080986	ENST00000575515	Transcript	missense_variant	481	353	118	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=5;SIFT=deleterious_low_confidence(0.01);PolyPhen=unknown(0)
TCGA-C5-A2LS-01A-22D-A22X-09	17:1543025-1543025	C	ENSG00000174238	ENST00000573056	Transcript	missense_variant,splice_region_variant	566	358	120	L/V	Ctt/Gtt	-	IMPACT=MODERATE;SYMBOL=PITPNA;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9001;TSL=5;SIFT=tolerated(0.42);PolyPhen=benign(0.003)
TCGA-C5-A1BF-01B-11D-A13W-08	17:7227237-7227237	T	ENSG00000004975	ENST00000575086	Transcript	missense_variant	357	358	120	L/M	Ctg/Atg	-	IMPACT=MODERATE;SYMBOL=DVL2;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3086;TSL=3;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.976)
TCGA-C5-A7UH-01A-11D-A351-09	22:50278464-50278464	T	ENSG00000196576	ENST00000411680	Transcript	missense_variant	359	359	120	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=2;SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	22:50278464-50278464	T	ENSG00000196576	ENST00000411680	Transcript	missense_variant	359	359	120	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=2;SOMATIC=1;PHENO=1
TCGA-Q1-A73P-01A-11D-A32I-09	6:31557651-31557651	T	ENSG00000204498	ENST00000376145	Transcript	synonymous_variant	440	358	120	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=NFKBIL1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7800;TSL=1
TCGA-Q1-A73P-01A-11D-A32I-09	6:31557651-31557651	T	ENSG00000204498	ENST00000376148	Transcript	synonymous_variant	472	358	120	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=NFKBIL1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7800;TSL=1;APPRIS=P1
TCGA-EK-A2R8-01A-21D-A18J-09	19:1220443-1220443	A	ENSG00000118046	ENST00000585851	Transcript	missense_variant	406	361	121	P/T	Ccg/Acg	COSM238600	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998);SOMATIC=1;PHENO=1
TCGA-UC-A7PF-01A-11D-A351-09	3:184056262-184056262	A	ENSG00000178084	ENST00000318351	Transcript	missense_variant	399	365	122	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=HTR3C;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24003;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.864)
TCGA-JW-A5VH-01A-11D-A28B-09	19:1807256-1807256	T	ENSG00000130270	ENST00000525591	Transcript	missense_variant	590	368	123	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=6/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=1;APPRIS=A2
TCGA-JW-A5VH-01A-11D-A28B-09	19:1807256-1807256	T	ENSG00000130270	ENST00000526092	Transcript	missense_variant	548	368	123	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=6/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=2
TCGA-BI-A20A-01A-11D-A14W-08	12:121444193-121444193	A	ENSG00000089094	ENST00000542973	Transcript	missense_variant	763	374	125	N/I	aAc/aTc	-	IMPACT=MODERATE;SYMBOL=KDM2B;BIOTYPE=protein_coding;EXON=6/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13610;TSL=2;SIFT=tolerated(0.32);PolyPhen=benign(0.005)
TCGA-LP-A4AV-01A-11D-A243-09	16:48227826-48227826	T	ENSG00000121270	ENST00000353782	Transcript	synonymous_variant	439	375	125	A	gcC/gcA	rs765818586	IMPACT=LOW;SYMBOL=ABCC11;BIOTYPE=protein_coding;EXON=4/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14639;TSL=1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:9.61e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A4AV-01A-11D-A243-09	16:48227826-48227826	T	ENSG00000121270	ENST00000356608	Transcript	synonymous_variant	474	375	125	A	gcC/gcA	rs765818586	IMPACT=LOW;SYMBOL=ABCC11;BIOTYPE=protein_coding;EXON=4/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14639;TSL=1;APPRIS=P1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:9.61e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A4AV-01A-11D-A243-09	16:48227826-48227826	T	ENSG00000121270	ENST00000394747	Transcript	synonymous_variant	725	375	125	A	gcC/gcA	rs765818586	IMPACT=LOW;SYMBOL=ABCC11;BIOTYPE=protein_coding;EXON=3/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14639;TSL=1;APPRIS=P1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:9.61e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A4AV-01A-11D-A243-09	16:48227826-48227826	T	ENSG00000121270	ENST00000394748	Transcript	synonymous_variant	439	375	125	A	gcC/gcA	rs765818586	IMPACT=LOW;SYMBOL=ABCC11;BIOTYPE=protein_coding;EXON=4/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14639;TSL=1;APPRIS=P1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:9.61e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A4AV-01A-11D-A243-09	16:48227826-48227826	T	ENSG00000121270	ENST00000569991	Transcript	synonymous_variant	480	375	125	A	gcC/gcA	rs765818586	IMPACT=LOW;SYMBOL=ABCC11;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14639;TSL=4;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:9.61e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BM-01A-11D-A13W-08	19:2717432-2717432	T	ENSG00000176490	ENST00000323469	Transcript	synonymous_variant	559	375	125	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DIRAS1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19127;TSL=1;APPRIS=P1
TCGA-C5-A1BM-01A-11D-A13W-08	19:2717432-2717432	T	ENSG00000176490	ENST00000585334	Transcript	synonymous_variant	474	375	125	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DIRAS1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19127;APPRIS=P1
TCGA-C5-A1BM-01A-11D-A13W-08	19:2717432-2717432	T	ENSG00000176490	ENST00000588128	Transcript	synonymous_variant	513	375	125	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DIRAS1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19127;TSL=4
TCGA-LP-A4AV-01A-11D-A243-09	19:4324496-4324496	T	ENSG00000178078	ENST00000598443	Transcript	missense_variant	372	374	125	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=2
TCGA-UC-A7PF-01A-11D-A351-09	19:5733954-5733954	T	ENSG00000174898	ENST00000381624	Transcript	synonymous_variant	436	375	125	S	tcG/tcT	-	IMPACT=LOW;SYMBOL=CATSPERD;BIOTYPE=protein_coding;EXON=5/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28598;TSL=1;APPRIS=P1
TCGA-FU-A40J-01A-11D-A243-09	19:3282169-3282169	G	ENSG00000161082	ENST00000588350	Transcript	missense_variant,NMD_transcript_variant	419	377	126	S/C	tCc/tGc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=nonsense_mediated_decay;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.971)
TCGA-C5-A2LX-01A-11D-A18J-09	19:6821677-6821677	C	ENSG00000141968	ENST00000304076	Transcript	missense_variant	471	377	126	S/T	aGc/aCc	rs772003183	IMPACT=MODERATE;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=3/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.647);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.255e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.503e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:6821677-6821677	C	ENSG00000141968	ENST00000596764	Transcript	missense_variant	457	377	126	S/T	aGc/aCc	rs772003183	IMPACT=MODERATE;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=3/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.647);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.255e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.503e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:6821677-6821677	C	ENSG00000141968	ENST00000602142	Transcript	missense_variant	459	377	126	S/T	aGc/aCc	rs772003183	IMPACT=MODERATE;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=3/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.141);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.255e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.503e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000452382	Transcript	missense_variant	459	376	126	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=5
TCGA-MY-A5BD-01A-11D-A26G-09	12:2797857-2797857	A	ENSG00000004478	ENST00000001008	Transcript	missense_variant	566	379	127	A/T	Gcg/Acg	-	IMPACT=MODERATE;SYMBOL=FKBP4;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3720;TSL=1;APPRIS=P1
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000344749	Transcript	synonymous_variant	450	381	127	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=6/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=5;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000395423	Transcript	synonymous_variant	725	381	127	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=6/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=5;APPRIS=A2;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-JW-A5VG-01A-11D-A28B-09	20:1915398-1915398	T	ENSG00000198053	ENST00000356025	Transcript	missense_variant	402	379	127	R/W	Cgg/Tgg	rs779570157	IMPACT=MODERATE;SYMBOL=SIRPA;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9662;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);ExAC_MAF=A:8.871e-06,T:8.871e-06;ExAC_Adj_MAF=A:9.847e-06,T:9.847e-06;ExAC_AFR_MAF=A:0,T:0.0001052;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:0,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:7.49e-05,T:0
TCGA-JW-A5VG-01A-11D-A28B-09	20:1915398-1915398	T	ENSG00000198053	ENST00000358771	Transcript	missense_variant	531	379	127	R/W	Cgg/Tgg	rs779570157	IMPACT=MODERATE;SYMBOL=SIRPA;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9662;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);ExAC_MAF=A:8.871e-06,T:8.871e-06;ExAC_Adj_MAF=A:9.847e-06,T:9.847e-06;ExAC_AFR_MAF=A:0,T:0.0001052;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:0,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:7.49e-05,T:0
TCGA-JW-A5VG-01A-11D-A28B-09	20:1915398-1915398	T	ENSG00000198053	ENST00000400068	Transcript	missense_variant	739	379	127	R/W	Cgg/Tgg	rs779570157	IMPACT=MODERATE;SYMBOL=SIRPA;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9662;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.983);ExAC_MAF=A:8.871e-06,T:8.871e-06;ExAC_Adj_MAF=A:9.847e-06,T:9.847e-06;ExAC_AFR_MAF=A:0,T:0.0001052;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:0,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:7.49e-05,T:0
TCGA-JW-A5VG-01A-11D-A28B-09	20:1915398-1915398	T	ENSG00000198053	ENST00000622179	Transcript	missense_variant	398	379	127	R/W	Cgg/Tgg	rs779570157	IMPACT=MODERATE;SYMBOL=SIRPA;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9662;TSL=5;APPRIS=A1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.988);ExAC_MAF=A:8.871e-06,T:8.871e-06;ExAC_Adj_MAF=A:9.847e-06,T:9.847e-06;ExAC_AFR_MAF=A:0,T:0.0001052;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0,T:0;ExAC_FIN_MAF=A:0,T:0;ExAC_NFE_MAF=A:0,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:7.49e-05,T:0
TCGA-EK-A2RK-01A-11D-A18J-09	14:64468776-64468776	C	ENSG00000179841	ENST00000320636	Transcript	missense_variant	1670	382	128	A/P	Gcc/Ccc	-	IMPACT=MODERATE;SYMBOL=AKAP5;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:375;APPRIS=P1
TCGA-EK-A2RK-01A-11D-A18J-09	14:64468776-64468776	C	ENSG00000179841	ENST00000394718	Transcript	missense_variant	760	382	128	A/P	Gcc/Ccc	-	IMPACT=MODERATE;SYMBOL=AKAP5;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:375;TSL=1;APPRIS=P1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000341928	Transcript	missense_variant,splice_region_variant	724	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000342933	Transcript	missense_variant,splice_region_variant	792	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.902);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000400111	Transcript	missense_variant,splice_region_variant	449	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000540638	Transcript	missense_variant,splice_region_variant	763	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.915);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000544123	Transcript	missense_variant,splice_region_variant	611	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000578503	Transcript	missense_variant,splice_region_variant	450	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-C5-A7CO-01A-11D-A351-09	18:5445243-5445243	G	ENSG00000082397	ENST00000584651	Transcript	missense_variant,splice_region_variant	443	383	128	K/T	aAa/aCa	COSM320136	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-FU-A40J-01A-11D-A243-09	2:669621-669621	G	ENSG00000151353	ENST00000281017	Transcript	missense_variant	476	382	128	E/Q	Gag/Cag	COSM4843925,COSM4843926	IMPACT=MODERATE;SYMBOL=TMEM18;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25257;TSL=1;APPRIS=P2;SIFT=tolerated(0.66);PolyPhen=unknown(0);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3L7-01A-21D-A20U-09	9:2643216-2643216	G	ENSG00000147852	ENST00000382096	Transcript	missense_variant	597	382	128	R/G	Agg/Ggg	rs777739092,COSM4849405	IMPACT=MODERATE;SYMBOL=VLDLR;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12698;TSL=5;SIFT=tolerated(0.24);PolyPhen=benign(0.345);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.254e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.503e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000637354	Transcript	missense_variant	381	383	128	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=3/8;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.924);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000543356	Transcript	missense_variant	382	382	128	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=2/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;SIFT=deleterious(0.01);PolyPhen=benign(0.413)
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000311189	Transcript	missense_variant	560	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.728);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000397594	Transcript	missense_variant	441	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000397596	Transcript	missense_variant	524	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=3;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.728);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000417302	Transcript	missense_variant	576	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000451590	Transcript	missense_variant	576	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.728);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	11:533515-533515	T	ENSG00000174775	ENST00000493230	Transcript	missense_variant,NMD_transcript_variant	564	388	130	A/T	Gct/Act	COSM4825382,COSM4825383	IMPACT=MODERATE;SYMBOL=HRAS;BIOTYPE=nonsense_mediated_decay;EXON=4/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5173;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975);SOMATIC=1,1;PHENO=1,1
TCGA-EA-A3HQ-01A-11D-A20U-09	11:61291299-61291299	A	ENSG00000167992	ENST00000535599	Transcript	missense_variant,NMD_transcript_variant	446	388	130	A/S	Gct/Tct	rs561200697	IMPACT=MODERATE;SYMBOL=VWCE;BIOTYPE=nonsense_mediated_decay;EXON=2/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26487;TSL=2;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0);GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0000;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0010;ExAC_MAF=A:8.237e-05;ExAC_Adj_MAF=A:9.719e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.000987
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000354900	Transcript	synonymous_variant	497	390	130	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=1;APPRIS=A2
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000360798	Transcript	synonymous_variant	504	390	130	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=2
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000361790	Transcript	synonymous_variant	549	390	130	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=1;APPRIS=P4
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000602122	Transcript	synonymous_variant	877	390	130	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=2;APPRIS=A2
TCGA-Q1-A6DW-01A-11D-A32I-09	19:35250451-35250451	T	ENSG00000105699	ENST00000621372	Transcript	synonymous_variant	613	390	130	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=LSR;BIOTYPE=protein_coding;EXON=2/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29572;TSL=1;APPRIS=P4
TCGA-EK-A2R7-01A-11D-A18J-09	9:36065608-36065608	T	ENSG00000122707	ENST00000377966	Transcript	missense_variant	955	389	130	C/F	tGc/tTc	-	IMPACT=MODERATE;SYMBOL=RECK;BIOTYPE=protein_coding;EXON=6/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11345;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A2LX-01A-11D-A18J-09	1:94473823-94473823	A	ENSG00000117528	ENST00000315713	Transcript	synonymous_variant	393	393	131	A	gcC/gcA	-	IMPACT=LOW;SYMBOL=ABCD3;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:67;TSL=1
TCGA-C5-A2LX-01A-11D-A18J-09	1:94473823-94473823	A	ENSG00000117528	ENST00000370214	Transcript	synonymous_variant	417	393	131	A	gcC/gcA	-	IMPACT=LOW;SYMBOL=ABCD3;BIOTYPE=protein_coding;EXON=5/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:67;TSL=1;APPRIS=P1
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000269162	Transcript	missense_variant,splice_region_variant	693	392	131	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=2;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.001)
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000423027	Transcript	missense_variant,splice_region_variant	713	392	131	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=4/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.001)
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000535121	Transcript	missense_variant,splice_region_variant	531	392	131	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.001)
TCGA-FU-A40J-01A-11D-A243-09	2:669621-669621	G	ENSG00000151353	ENST00000405941	Transcript	missense_variant	456	391	131	E/Q	Gag/Cag	COSM4843925,COSM4843926	IMPACT=MODERATE;SYMBOL=TMEM18;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25257;TSL=3;APPRIS=A2;SIFT=tolerated(0.63);PolyPhen=unknown(0);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A2M2-01A-21D-A18J-09	9:18941665-18941665	T	ENSG00000155875	ENST00000380534	Transcript	synonymous_variant	673	393	131	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=SAXO1;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28566;TSL=1;APPRIS=P3
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000581292	Transcript	missense_variant	395	395	132	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=4;SIFT=tolerated(0.32);PolyPhen=benign(0.184);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-MY-A5BD-01A-11D-A26G-09	20:2816949-2816949	T	ENSG00000198326	ENST00000380585	Transcript	missense_variant	489	395	132	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=TMEM239;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:40044;TSL=1;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	5:37063920-37063920	T	ENSG00000164190	ENST00000513819	Transcript	stop_gained	394	394	132	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=NIPBL;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28862;TSL=3
TCGA-EK-A2RB-01A-11D-A18J-09	19:2796129-2796129	T	ENSG00000172009	ENST00000585338	Transcript	stop_gained	628	397	133	E/*	Gag/Tag	-	IMPACT=HIGH;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=3
TCGA-IR-A3LL-01A-11D-A20U-09	9:35562970-35562970	T	ENSG00000215187	ENST00000399742	Transcript	missense_variant	468	397	133	P/T	Cca/Aca	-	IMPACT=MODERATE;SYMBOL=FAM166B;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:34242;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.616)
TCGA-IR-A3LL-01A-11D-A20U-09	9:35562970-35562970	T	ENSG00000215187	ENST00000447837	Transcript	missense_variant,NMD_transcript_variant	468	397	133	P/T	Cca/Aca	-	IMPACT=MODERATE;SYMBOL=FAM166B;BIOTYPE=nonsense_mediated_decay;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:34242;TSL=1;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.57)
TCGA-IR-A3LL-01A-11D-A20U-09	9:35562970-35562970	T	ENSG00000215187	ENST00000619051	Transcript	missense_variant	468	397	133	P/T	Cca/Aca	-	IMPACT=MODERATE;SYMBOL=FAM166B;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:34242;TSL=5;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.452)
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000377902	Transcript	missense_variant	618	397	133	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=3/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.548)
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000447283	Transcript	missense_variant	448	397	133	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=3/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=5;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.694)
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000539815	Transcript	missense_variant	438	397	133	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=2/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.548)
TCGA-Q1-A73S-01A-11D-A33O-09	19:2917022-2917022	T	ENSG00000171970	ENST00000306908	Transcript	missense_variant	549	401	134	C/F	tGt/tTt	COSM994330	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=1;APPRIS=P2;SIFT=tolerated(0.77);PolyPhen=benign(0.117);SOMATIC=1;PHENO=1
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000419828	Transcript	splice_region_variant,synonymous_variant	600	402	134	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=6/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000427895	Transcript	splice_region_variant,synonymous_variant	481	402	134	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-C5-A1BK-01B-11D-A13W-08	9:130428485-130428485	A	ENSG00000148357	ENST00000428715	Transcript	stop_gained	400	402	134	W/*	tgG/tgA	-	IMPACT=HIGH;SYMBOL=HMCN2;BIOTYPE=protein_coding;EXON=3/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21293;TSL=5
TCGA-MU-A51Y-01A-11D-A26G-09	18:3456358-3456358	G	ENSG00000177426	ENST00000330513	Transcript	missense_variant	711	408	136	I/M	atT/atG	-	IMPACT=MODERATE;SYMBOL=TGIF1;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11776;TSL=1;SIFT=tolerated_low_confidence(0.12);PolyPhen=benign(0.017)
TCGA-Q1-A73S-01A-11D-A33O-09	19:2917022-2917022	T	ENSG00000171970	ENST00000614108	Transcript	missense_variant	555	407	136	C/F	tGt/tTt	COSM994330	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=5;APPRIS=A2;SIFT=tolerated(0.71);PolyPhen=benign(0.232);SOMATIC=1;PHENO=1
TCGA-BI-A20A-01A-11D-A14W-08	19:2097444-2097444	C	ENSG00000099840	ENST00000620263	Transcript	missense_variant	425	410	137	G/A	gGg/gCg	rs751614421	IMPACT=MODERATE;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3;APPRIS=A2;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.332e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.524e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-MU-A51Y-01A-11D-A26G-09	19:362260-362260	G	ENSG00000105549	ENST00000530711	Transcript	stop_lost	649	413	138	*/S	tGa/tCa	rs867236298,COSM177951	IMPACT=HIGH;SYMBOL=THEG;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13706;TSL=3;APPRIS=A2;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A7CG-01A-11D-A32I-09	16:23080124-23080124	T	ENSG00000103404	ENST00000563525	Transcript	missense_variant	415	417	139	F/L	ttC/ttA	-	IMPACT=MODERATE;SYMBOL=USP31;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20060;TSL=5
TCGA-EK-A2RJ-01A-11D-A18J-09	19:2271912-2271912	G	ENSG00000104904	ENST00000582888	Transcript	missense_variant	481	416	139	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=OAZ1;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8095;TSL=5;APPRIS=A1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.784)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000360614	Transcript	missense_variant	574	416	139	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=1/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.913)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5719717-5719717	T	ENSG00000196365	ENST00000587365	Transcript	missense_variant	427	416	139	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=1/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=5;SIFT=deleterious_low_confidence(0.01);PolyPhen=unknown(0)
TCGA-C5-A3HE-01A-21D-A22X-09	19:53014505-53014505	A	ENSG00000269526	ENST00000602168	Transcript	missense_variant	585	415	139	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=ERVV-1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26501;APPRIS=P1;SIFT=tolerated(1);PolyPhen=benign(0.009)
TCGA-C5-A3HD-01B-11D-A20U-09	5:150696640-150696640	A	ENSG00000086589	ENST00000518917	Transcript	synonymous_variant	446	417	139	I	atC/atT	-	IMPACT=LOW;SYMBOL=RBM22;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25503;TSL=5
TCGA-DG-A2KL-01A-11D-A17W-09	9:37428495-37428495	T	ENSG00000137106	ENST00000318158	Transcript	missense_variant	501	416	139	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=GRHPR;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4570;TSL=1;APPRIS=P1;SIFT=tolerated(0.16);PolyPhen=benign(0.026)
TCGA-DG-A2KL-01A-11D-A17W-09	9:37428495-37428495	T	ENSG00000137106	ENST00000607784	Transcript	missense_variant	421	416	139	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=GRHPR;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4570;TSL=5;SIFT=tolerated(0.15);PolyPhen=benign(0.036)
TCGA-EK-A2RD-01A-12D-A20U-09	18:10857131-10857131	T	ENSG00000154864	ENST00000383408	Transcript	synonymous_variant	747	420	140	E	gaG/gaA	rs773775388	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=6/53;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;APPRIS=A2;ExAC_MAF=T:1.222e-04;ExAC_Adj_MAF=T:4.823e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001271
TCGA-FU-A3WB-01A-11D-A22X-09	19:4844784-4844784	T	ENSG00000105355	ENST00000589163	Transcript	missense_variant	417	418	140	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=PLIN3;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16893;TSL=3;SIFT=tolerated(0.19);PolyPhen=benign(0.028)
TCGA-C5-A2LZ-01A-11D-A20U-09	2:277245-277245	C	ENSG00000143727	ENST00000272065	Transcript	missense_variant	511	418	140	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=ACP1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:122;TSL=1;APPRIS=A1;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.888)
TCGA-C5-A2LZ-01A-11D-A20U-09	2:277245-277245	C	ENSG00000143727	ENST00000272067	Transcript	missense_variant	514	418	140	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=ACP1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:122;TSL=1;APPRIS=P4;SIFT=tolerated(0.05);PolyPhen=probably_damaging(0.964)
TCGA-EK-A3GJ-01A-21D-A20U-09	6:33403358-33403358	C	ENSG00000237649	ENST00000450504	Transcript	missense_variant	543	418	140	V/L	Gtt/Ctt	rs181827069	IMPACT=MODERATE;SYMBOL=KIFC1;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6389;TSL=3;SIFT=tolerated_low_confidence(0.2);PolyPhen=benign(0.022);GMAF=C:0.0002;AFR_MAF=C:0.0008;AMR_MAF=C:0.0000;EAS_MAF=C:0.0000;EUR_MAF=C:0.0000;SAS_MAF=C:0.0000;ExAC_MAF=C:8.236e-06,AT:8.236e-06;ExAC_Adj_MAF=C:8.237e-06,AT:8.237e-06;ExAC_AFR_MAF=C:9.61e-05,AT:0;ExAC_AMR_MAF=C:0,AT:0;ExAC_EAS_MAF=C:0,AT:0;ExAC_FIN_MAF=C:0,AT:0;ExAC_NFE_MAF=C:0,AT:1.498e-05;ExAC_OTH_MAF=C:0,AT:0;ExAC_SAS_MAF=C:0,AT:0
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000529432	Transcript	missense_variant,splice_region_variant	785	422	141	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.013)
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000633646	Transcript	missense_variant,splice_region_variant	769	422	141	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=3;SIFT=tolerated(0.4);PolyPhen=benign(0.013)
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000638157	Transcript	missense_variant,splice_region_variant	969	422	141	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=8/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;SIFT=deleterious(0.02);PolyPhen=benign(0.108)
TCGA-DS-A7WH-01A-22D-A351-09	15:43814952-43814952	T	ENSG00000140259	ENST00000267812	Transcript	missense_variant	655	422	141	A/D	gCt/gAt	-	IMPACT=MODERATE;SYMBOL=MFAP1;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7032;TSL=1;APPRIS=P1
TCGA-EK-A2RJ-01A-11D-A18J-09	19:2271912-2271912	G	ENSG00000104904	ENST00000602676	Transcript	missense_variant	501	422	141	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=OAZ1;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8095;TSL=5;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.792)
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000426821	Transcript	missense_variant	420	422	141	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=6/14;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=5;APPRIS=A2
TCGA-BI-A20A-01A-11D-A14W-08	19:2097458-2097458	T	ENSG00000099840	ENST00000620263	Transcript	stop_gained	439	424	142	G/*	Gga/Tga	-	IMPACT=HIGH;SYMBOL=IZUMO4;BIOTYPE=protein_coding;EXON=2/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26950;TSL=3;APPRIS=A2
TCGA-FU-A23K-01A-11D-A16O-08	19:48342779-48342779	T	ENSG00000161558	ENST00000377431	Transcript	synonymous_variant	444	426	142	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=TMEM143;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25603;TSL=1
TCGA-Q1-A5R2-01A-11D-A28B-09	16:29859269-29859269	G	ENSG00000103502	ENST00000566113	Transcript	missense_variant	774	427	143	V/L	Gtc/Ctc	-	IMPACT=MODERATE;SYMBOL=CDIPT;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1769;TSL=2
TCGA-EK-A2RB-01A-11D-A18J-09	19:2796129-2796129	T	ENSG00000172009	ENST00000307741	Transcript	stop_gained	630	427	143	E/*	Gag/Tag	-	IMPACT=HIGH;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=1;APPRIS=P1
TCGA-Q1-A6DT-01A-11D-A32I-09	19:44131041-44131041	A	ENSG00000256294	ENST00000262894	Transcript	missense_variant	707	427	143	V/I	Gta/Ata	rs768705484,COSM3289872	IMPACT=MODERATE;SYMBOL=ZNF225;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13018;TSL=1;APPRIS=P1;SIFT=tolerated(0.29);PolyPhen=benign(0.001);ExAC_MAF=A:1.653e-05;ExAC_Adj_MAF=A:1.656e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.499e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.056e-05;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A6DT-01A-11D-A32I-09	19:44131041-44131041	A	ENSG00000256294	ENST00000590612	Transcript	missense_variant	710	427	143	V/I	Gta/Ata	rs768705484,COSM3289872	IMPACT=MODERATE;SYMBOL=ZNF225;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13018;TSL=1;APPRIS=P1;SIFT=tolerated(0.29);PolyPhen=benign(0.001);ExAC_MAF=A:1.653e-05;ExAC_Adj_MAF=A:1.656e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.499e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.056e-05;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1ML-01A-11D-A14W-08	9:6007361-6007361	A	ENSG00000183354	ENST00000381461	Transcript	stop_gained	427	427	143	E/*	Gaa/Taa	COSM4837524,COSM609139	IMPACT=HIGH;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1ML-01A-11D-A14W-08	9:6007361-6007361	A	ENSG00000183354	ENST00000399933	Transcript	stop_gained	427	427	143	E/*	Gaa/Taa	COSM4837524,COSM609139	IMPACT=HIGH;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;APPRIS=P1;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1ML-01A-11D-A14W-08	9:6007361-6007361	A	ENSG00000183354	ENST00000513355	Transcript	stop_gained	541	427	143	E/*	Gaa/Taa	COSM4837524,COSM609139	IMPACT=HIGH;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SOMATIC=1,1;PHENO=1,1
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000458508	Transcript	synonymous_variant	558	432	144	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000458508	Transcript	synonymous_variant	558	432	144	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000313244	Transcript	missense_variant	470	435	145	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=6/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000313285	Transcript	missense_variant	517	435	145	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=6/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000596758	Transcript	missense_variant	435	435	145	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=6/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1
TCGA-DG-A2KK-01A-11D-A17W-09	19:6743520-6743520	C	ENSG00000125733	ENST00000600677	Transcript	missense_variant,NMD_transcript_variant	483	435	145	W/C	tgG/tgC	-	IMPACT=MODERATE;SYMBOL=TRIP10;BIOTYPE=nonsense_mediated_decay;EXON=6/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=5
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000324823	Transcript	missense_variant	474	434	145	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=7/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=1;APPRIS=A2
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000583802	Transcript	missense_variant	509	436	146	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-C5-A1BK-01B-11D-A13W-08	17:7948588-7948588	G	ENSG00000170037	ENST00000576536	Transcript	missense_variant	436	436	146	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=CNTROB;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29616;TSL=3;SIFT=deleterious_low_confidence(0.01);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423094-56423094	T	ENSG00000198440	ENST00000291598	Transcript	missense_variant	601	436	146	H/Y	Cat/Tat	rs868124481	IMPACT=MODERATE;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=3;APPRIS=P1;SIFT=tolerated(0.17);PolyPhen=possibly_damaging(0.501)
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423094-56423094	T	ENSG00000198440	ENST00000333201	Transcript	missense_variant	646	436	146	H/Y	Cat/Tat	rs868124481	IMPACT=MODERATE;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=2;APPRIS=P1;SIFT=tolerated(0.17);PolyPhen=possibly_damaging(0.501)
TCGA-EK-A2RO-01A-11D-A18J-09	20:2816721-2816721	C	ENSG00000241690	ENST00000380593	Transcript	synonymous_variant	521	438	146	A	gcT/gcC	-	IMPACT=LOW;SYMBOL=RP5-860F19.8;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=2;APPRIS=P1
TCGA-C5-A3HD-01B-11D-A20U-09	5:150696640-150696640	A	ENSG00000086589	ENST00000199814	Transcript	synonymous_variant	560	438	146	I	atC/atT	-	IMPACT=LOW;SYMBOL=RBM22;BIOTYPE=protein_coding;EXON=6/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25503;TSL=1;APPRIS=P1
TCGA-C5-A1MH-01A-11D-A14W-08	X:53430514-53430514	T	ENSG00000158423	ENST00000414955	Transcript	missense_variant	675	437	146	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=RIBC1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26537;TSL=2;SIFT=deleterious(0.03);PolyPhen=benign(0.42)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000252207	Transcript	missense_variant	587	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=1;APPRIS=P3;SIFT=tolerated(0.5);PolyPhen=benign(0)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000425468	Transcript	missense_variant	604	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=1;APPRIS=A2;SIFT=tolerated(0.52);PolyPhen=benign(0)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000526391	Transcript	missense_variant	603	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=1;SIFT=tolerated(0.64);PolyPhen=benign(0)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000527436	Transcript	missense_variant	540	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=1;SIFT=tolerated(0.52);PolyPhen=benign(0.001)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000527844	Transcript	missense_variant	512	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=5;SIFT=tolerated(0.51);PolyPhen=benign(0)
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000531979	Transcript	missense_variant	551	439	147	R/G	Aga/Gga	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=2;APPRIS=P3;SIFT=tolerated(0.5);PolyPhen=benign(0)
TCGA-MU-A5YI-01A-11D-A32I-09	6:116558139-116558139	T	ENSG00000164451	ENST00000628083	Transcript	stop_lost	668	441	147	*/Y	taG/taT	rs753371540	IMPACT=HIGH;SYMBOL=FAM26D;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21094;TSL=2;ExAC_MAF=C:4.118e-05;ExAC_Adj_MAF=C:4.119e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:7.494e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-Q1-A5R2-01A-11D-A28B-09	7:100463436-100463436	A	ENSG00000185955	ENST00000418952	Transcript	missense_variant	438	440	147	T/M	aCg/aTg	-	IMPACT=MODERATE;SYMBOL=C7orf61;BIOTYPE=protein_coding;EXON=1/2;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22135;TSL=2;SIFT=deleterious_low_confidence(0.04);PolyPhen=probably_damaging(0.947)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000538841	Transcript	missense_variant	613	440	147	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=6/25;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=2;SIFT=tolerated(0.1);PolyPhen=benign(0.027)
TCGA-MU-A5YI-01A-11D-A32I-09	6:116558139-116558139	T	ENSG00000164451	ENST00000405399	Transcript	stop_lost	729	444	148	*/Y	taG/taT	rs753371540	IMPACT=HIGH;SYMBOL=FAM26D;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21094;TSL=1;ExAC_MAF=C:4.118e-05;ExAC_Adj_MAF=C:4.119e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:7.494e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A2LX-01A-11D-A18J-09	9:21304814-21304814	A	ENSG00000147873	ENST00000610521	Transcript	missense_variant	499	443	148	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=IFNA5;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5426;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.338)
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000553620	Transcript	missense_variant	479	445	149	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=5;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.998)
TCGA-FU-A23K-01A-11D-A16O-08	19:1013310-1013310	C	ENSG00000182087	ENST00000592590	Transcript	missense_variant	455	448	150	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=TMEM259;BIOTYPE=protein_coding;EXON=3/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17039;TSL=5;SIFT=tolerated_low_confidence(0.24);PolyPhen=benign(0.09)
TCGA-C5-A7CJ-01A-11D-A32I-09	19:4157289-4157289	A	ENSG00000060566	ENST00000595923	Transcript	missense_variant	556	448	150	H/N	Cac/Aac	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=A2;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.587)
TCGA-EA-A3QD-01A-32D-A22X-09	9:24544225-24544225	A	ENSG00000205442	ENST00000604921	Transcript	missense_variant	475	448	150	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=IZUMO3;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31421;TSL=5;APPRIS=P2
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000525445	Transcript	stop_gained,splice_region_variant	753	451	151	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000532326	Transcript	splice_region_variant,synonymous_variant,NMD_transcript_variant	807	453	151	A	gcG/gcT	COSM4831166,COSM4831167	IMPACT=LOW;SYMBOL=IRF7;BIOTYPE=nonsense_mediated_decay;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;SOMATIC=1,1;PHENO=1,1
TCGA-EA-A410-01A-11D-A243-09	16:89971470-89971470	A	ENSG00000177946	ENST00000314994	Transcript	synonymous_variant	1065	453	151	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=CENPBD1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28272;APPRIS=P1
TCGA-EK-A3GM-01A-11D-A20U-09	19:579536-579536	G	ENSG00000172270	ENST00000333511	Transcript	missense_variant	522	452	151	S/C	tCc/tGc	COSM4823357	IMPACT=MODERATE;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.975);SOMATIC=1;PHENO=1
TCGA-C5-A1MK-01A-11D-A14W-08	19:2226332-2226332	T	ENSG00000104885	ENST00000457590	Transcript	missense_variant	451	451	151	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=5
TCGA-FU-A40J-01A-11D-A243-09	19:3282169-3282169	G	ENSG00000161082	ENST00000334293	Transcript	missense_variant,NMD_transcript_variant	669	452	151	S/C	tCc/tGc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=nonsense_mediated_decay;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=2;SIFT=tolerated(0.06);PolyPhen=probably_damaging(0.971)
TCGA-C5-A7CJ-01A-11D-A32I-09	19:4157289-4157289	A	ENSG00000060566	ENST00000078445	Transcript	missense_variant	598	451	151	H/N	Cac/Aac	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=P3;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.462)
TCGA-C5-A7CJ-01A-11D-A32I-09	19:4157289-4157289	A	ENSG00000060566	ENST00000602147	Transcript	missense_variant	531	451	151	H/N	Cac/Aac	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.994)
TCGA-C5-A7CJ-01A-11D-A32I-09	19:4157289-4157289	A	ENSG00000060566	ENST00000602257	Transcript	missense_variant	531	451	151	H/N	Cac/Aac	-	IMPACT=MODERATE;SYMBOL=CREB3L3;BIOTYPE=protein_coding;EXON=3/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18855;TSL=1;APPRIS=A2;SIFT=tolerated(0.07);PolyPhen=benign(0.285)
TCGA-EA-A1QS-01A-61D-A22X-09	9:35064274-35064274	A	ENSG00000165280	ENST00000448530	Transcript	missense_variant	922	453	151	E/D	gaA/gaT	-	IMPACT=MODERATE;SYMBOL=VCP;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12666;TSL=5;SIFT=tolerated(0.26);PolyPhen=benign(0)
TCGA-IR-A3LF-01A-21D-A22X-09	5:226026-226026	C	ENSG00000073578	ENST00000510361	Transcript	synonymous_variant	494	456	152	L	ctG/ctC	rs201967413	IMPACT=LOW;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=4/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=2;GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0007;EA_MAF=G:0;ExAC_MAF=G:1.730e-04;ExAC_Adj_MAF=G:0.0001731;ExAC_AFR_MAF=G:0.001925;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.056e-05
TCGA-EK-A2H0-01A-11D-A17W-09	9:15486008-15486008	T	ENSG00000164985	ENST00000380715	Transcript	missense_variant,splice_region_variant	767	454	152	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=6/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1
TCGA-EK-A2H0-01A-11D-A17W-09	9:15486008-15486008	T	ENSG00000164985	ENST00000380716	Transcript	missense_variant,splice_region_variant	770	454	152	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=6/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=5
TCGA-EK-A2H0-01A-11D-A17W-09	9:15486008-15486008	T	ENSG00000164985	ENST00000380733	Transcript	missense_variant,splice_region_variant	798	454	152	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=6/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1;APPRIS=P1
TCGA-EK-A2H0-01A-11D-A17W-09	9:15486008-15486008	T	ENSG00000164985	ENST00000380738	Transcript	missense_variant,splice_region_variant	771	454	152	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=6/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1;APPRIS=P1
TCGA-EK-A2H0-01A-11D-A17W-09	9:15486008-15486008	T	ENSG00000164985	ENST00000397519	Transcript	missense_variant,splice_region_variant	555	454	152	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PSIP1;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9527;TSL=1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000525445	Transcript	missense_variant	759	457	153	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;SIFT=tolerated(0.46);PolyPhen=benign(0);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000532326	Transcript	synonymous_variant,NMD_transcript_variant	813	459	153	P	ccG/ccA	rs544913425,COSM4831256,COSM4831257	IMPACT=LOW;SYMBOL=IRF7;BIOTYPE=nonsense_mediated_decay;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-C5-A1MN-01A-11D-A14W-08	9:131476384-131476384	G	ENSG00000130723	ENST00000451855	Transcript	missense_variant	455	457	153	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=PRRC2B;BIOTYPE=protein_coding;EXON=1/9;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28121;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-LP-A4AW-01A-11D-A243-09	X:53430536-53430536	G	ENSG00000158423	ENST00000414955	Transcript	synonymous_variant	697	459	153	R	cgT/cgG	rs782421863	IMPACT=LOW;SYMBOL=RIBC1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26537;TSL=2;ExAC_MAF=A:3.297e-05;ExAC_Adj_MAF=A:4.497e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:8.293e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3NI-01A-11D-A21Q-09	X:153694354-153694354	A	ENSG00000130821	ENST00000442457	Transcript	missense_variant	457	458	153	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=3
TCGA-EK-A2R8-01A-21D-A18J-09	9:19082873-19082873	A	ENSG00000147874	ENST00000380496	Transcript	splice_region_variant,synonymous_variant	477	462	154	H	caC/caT	-	IMPACT=LOW;SYMBOL=HAUS6;BIOTYPE=protein_coding;EXON=5/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25948;TSL=2;APPRIS=A2
TCGA-R2-A69V-01A-11D-A32I-09	9:21206637-21206637	C	ENSG00000186803	ENST00000357374	Transcript	missense_variant	507	461	154	P/R	cCa/cGa	rs752448398	IMPACT=MODERATE;SYMBOL=IFNA10;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5418;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.237e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.498e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000514944	Transcript	synonymous_variant	544	465	155	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	19:855661-855661	C	ENSG00000197561	ENST00000263621	Transcript	missense_variant	502	464	155	G/A	gGc/gCc	COSM4827418	IMPACT=MODERATE;SYMBOL=ELANE;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3309;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-C5-A2LX-01A-11D-A18J-09	19:855661-855661	C	ENSG00000197561	ENST00000590230	Transcript	missense_variant	605	464	155	G/A	gGc/gCc	COSM4827418	IMPACT=MODERATE;SYMBOL=ELANE;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3309;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-EK-A2RB-01A-11D-A18J-09	6:28227708-28227708	G	ENSG00000137185	ENST00000531981	Transcript	missense_variant	604	464	155	Q/R	cAg/cGg	-	IMPACT=MODERATE;SYMBOL=ZSCAN9;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12984;TSL=4;SIFT=tolerated_low_confidence(0.52);PolyPhen=unknown(0)
TCGA-EK-A2RA-01A-11D-A18J-09	19:3759797-3759797	T	ENSG00000011132	ENST00000316757	Transcript	synonymous_variant	669	468	156	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=APBA3;BIOTYPE=protein_coding;EXON=2/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:580;TSL=1;APPRIS=P1
TCGA-EK-A2RK-01A-11D-A18J-09	3:52402868-52402868	A	ENSG00000163930	ENST00000478368	Transcript	synonymous_variant	466	466	156	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=BAP1;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:950;TSL=1
TCGA-EA-A3QD-01A-32D-A22X-09	9:24544225-24544225	A	ENSG00000205442	ENST00000543880	Transcript	missense_variant	698	466	156	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=IZUMO3;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31421;TSL=5;APPRIS=A2
TCGA-FU-A40J-01A-11D-A243-09	19:37413710-37413710	G	ENSG00000196437	ENST00000392150	Transcript	missense_variant	763	471	157	Q/H	caA/caC	-	IMPACT=MODERATE;SYMBOL=ZNF569;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24737;TSL=1
TCGA-EK-A2RN-01A-12D-A20U-09	19:51380253-51380253	A	ENSG00000105370	ENST00000596399	Transcript	missense_variant	518	470	157	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=LIM2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6610;TSL=1;APPRIS=P1;SIFT=tolerated(0.3);PolyPhen=benign(0.139)
TCGA-Q1-A6DT-01A-11D-A32I-09	5:23521142-23521142	G	ENSG00000164256	ENST00000296682	Transcript	synonymous_variant	653	471	157	E	gaA/gaG	-	IMPACT=LOW;SYMBOL=PRDM9;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13994;TSL=1;APPRIS=P1
TCGA-C5-A1ML-01A-11D-A14W-08	16:31201644-31201644	T	ENSG00000103490	ENST00000350605	Transcript	missense_variant	538	472	158	L/I	Ctc/Atc	-	IMPACT=MODERATE;SYMBOL=PYCARD;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16608;TSL=1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.621)
TCGA-EK-A2RJ-01A-11D-A18J-09	X:49071932-49071932	A	ENSG00000243279	ENST00000553851	Transcript	synonymous_variant	558	474	158	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=PRAF2;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28911;TSL=1;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000573216	Transcript	stop_gained	539	476	159	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=4;SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LI-01A-11D-A20U-09	19:5786512-5786512	A	ENSG00000141994	ENST00000591560	Transcript	missense_variant,NMD_transcript_variant	478	478	160	T/S	Aca/Tca	rs867637855	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=nonsense_mediated_decay;EXON=5/7;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=5;SIFT=tolerated_low_confidence(0.15);PolyPhen=benign(0.003)
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000591736	Transcript	missense_variant	536	478	160	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=4;SIFT=tolerated(0.11);PolyPhen=benign(0.006);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-IR-A3LL-01A-11D-A20U-09	9:32418333-32418333	T	ENSG00000122729	ENST00000309951	Transcript	synonymous_variant	618	480	160	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=6/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=1;APPRIS=P1
TCGA-IR-A3LL-01A-11D-A20U-09	9:32418333-32418333	T	ENSG00000122729	ENST00000379923	Transcript	synonymous_variant	686	480	160	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=7/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=5;APPRIS=P1
TCGA-IR-A3LL-01A-11D-A20U-09	9:32418333-32418333	T	ENSG00000122729	ENST00000541043	Transcript	synonymous_variant	707	480	160	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=7/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=5;APPRIS=P1
TCGA-IR-A3LL-01A-11D-A20U-09	9:32635100-32635100	A	ENSG00000122728	ENST00000242310	Transcript	synonymous_variant	570	480	160	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1
TCGA-MU-A51Y-01A-11D-A26G-09	15:43330009-43330009	T	ENSG00000168806	ENST00000305641	Transcript	missense_variant	597	481	161	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=LCMT2;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17558;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2PL-01A-11D-A18J-09	17:41348588-41348588	T	ENSG00000006059	ENST00000007735	Transcript	synonymous_variant	528	483	161	G	ggG/ggA	-	IMPACT=LOW;SYMBOL=KRT33A;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6450;TSL=1;APPRIS=P1
TCGA-LP-A7HU-01A-11D-A33O-09	22:39101980-39101980	A	ENSG00000100298	ENST00000348946	Transcript	missense_variant	608	481	161	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=APOBEC3H;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24100;TSL=1;APPRIS=A2
TCGA-LP-A7HU-01A-11D-A33O-09	22:39101980-39101980	A	ENSG00000100298	ENST00000401756	Transcript	missense_variant	557	481	161	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=APOBEC3H;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24100;TSL=3;APPRIS=A2
TCGA-LP-A7HU-01A-11D-A33O-09	22:39101980-39101980	A	ENSG00000100298	ENST00000442487	Transcript	missense_variant	547	481	161	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=APOBEC3H;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24100;TSL=3;APPRIS=P3
TCGA-LP-A7HU-01A-11D-A33O-09	22:39101980-39101980	A	ENSG00000100298	ENST00000613677	Transcript	missense_variant	608	481	161	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=APOBEC3H;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24100;TSL=5;APPRIS=A2
TCGA-DG-A2KH-01A-21D-A22X-09	6:32188317-32188317	T	ENSG00000204304	ENST00000375050	Transcript	stop_retained_variant	754	483	161	*	taG/taA	-	IMPACT=LOW;SYMBOL=PBX2;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8633;TSL=1;APPRIS=P1
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000318529	Transcript	missense_variant	746	482	161	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=7/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=2;APPRIS=A2
TCGA-IR-A3LL-01A-11D-A20U-09	11:431747-431747	G	ENSG00000185101	ENST00000332826	Transcript	missense_variant	571	486	162	K/N	aaG/aaC	COSM4849778	IMPACT=MODERATE;SYMBOL=ANO9;BIOTYPE=protein_coding;EXON=7/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20679;TSL=1;APPRIS=P1;SIFT=tolerated(0.24);PolyPhen=benign(0.047);SOMATIC=1;PHENO=1
TCGA-C5-A1MH-01A-11D-A14W-08	19:2813158-2813158	C	ENSG00000172009	ENST00000587468	Transcript	missense_variant	648	485	162	C/S	tGc/tCc	rs757865226	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=2;ExAC_MAF=-:8.269e-06;ExAC_Adj_MAF=-:9.903e-06;ExAC_AFR_MAF=-:0;ExAC_AMR_MAF=-:9.899e-05;ExAC_EAS_MAF=-:0;ExAC_FIN_MAF=-:0;ExAC_NFE_MAF=-:0;ExAC_OTH_MAF=-:0;ExAC_SAS_MAF=-:0
TCGA-IR-A3LL-01A-11D-A20U-09	19:5789420-5789420	T	ENSG00000141994	ENST00000590110	Transcript	missense_variant,NMD_transcript_variant	569	485	162	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=nonsense_mediated_decay;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=2;PolyPhen=unknown(0)
TCGA-EK-A2RB-01A-11D-A18J-09	9:25677836-25677836	G	ENSG00000198680	ENST00000358022	Transcript	missense_variant	605	486	162	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=TUSC1;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31010;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.534)
TCGA-DS-A0VK-01A-21D-A10S-08	9:27169490-27169490	T	ENSG00000120156	ENST00000380036	Transcript	synonymous_variant	931	489	163	H	caC/caT	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=4/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=1;APPRIS=P1
TCGA-DS-A0VK-01A-21D-A10S-08	9:27169490-27169490	T	ENSG00000120156	ENST00000406359	Transcript	synonymous_variant	664	489	163	H	caC/caT	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-DS-A0VK-01A-21D-A10S-08	9:27169490-27169490	T	ENSG00000120156	ENST00000615002	Transcript	synonymous_variant	931	489	163	H	caC/caT	-	IMPACT=LOW;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=4/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=5
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000613627	Transcript	stop_gained	516	491	164	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=3;SOMATIC=1,1;PHENO=1,1
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000344279	Transcript	missense_variant	670	491	164	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=1;APPRIS=P1;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000396838	Transcript	missense_variant	1017	491	164	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=1;APPRIS=P1;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000414429	Transcript	missense_variant	1395	491	164	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=2;APPRIS=P1;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000439158	Transcript	missense_variant	891	491	164	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=1;APPRIS=P1;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.75)
TCGA-Q1-A6DT-01A-11D-A32I-09	6:28327424-28327424	T	ENSG00000235109	ENST00000453745	Transcript	missense_variant	639	491	164	P/H	cCc/cAc	-	IMPACT=MODERATE;SYMBOL=ZSCAN31;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14097;TSL=3;SIFT=tolerated(0.07);PolyPhen=possibly_damaging(0.75)
TCGA-LP-A5U2-01A-11D-A28B-09	9:36246250-36246250	A	ENSG00000159921	ENST00000396594	Transcript	missense_variant	602	490	164	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=3/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;SIFT=deleterious(0);PolyPhen=benign(0.413)
TCGA-BI-A0VR-01A-11D-A10S-08	11:75727987-75727987	C	ENSG00000166391	ENST00000198801	Transcript	missense_variant	563	493	165	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=MOGAT2;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23248;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.777)
TCGA-BI-A0VR-01A-11D-A10S-08	11:75727987-75727987	C	ENSG00000166391	ENST00000525093	Transcript	missense_variant,NMD_transcript_variant	493	493	165	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=MOGAT2;BIOTYPE=nonsense_mediated_decay;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23248;TSL=1;SIFT=tolerated(0.11);PolyPhen=probably_damaging(0.918)
TCGA-C5-A7UH-01A-11D-A351-09	19:3193402-3193402	T	ENSG00000125912	ENST00000246117	Transcript	missense_variant	925	494	165	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=NCLN;BIOTYPE=protein_coding;EXON=3/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26923;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.498)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000584860	Transcript	missense_variant	834	496	166	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-LP-A5U2-01A-11D-A28B-09	19:5787352-5787352	T	ENSG00000141994	ENST00000320699	Transcript	missense_variant	561	496	166	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=6/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=A2;SIFT=tolerated(1);PolyPhen=benign(0.017)
TCGA-C5-A0TN-01A-21D-A14W-08	19:17666677-17666677	T	ENSG00000130477	ENST00000519716	Transcript	missense_variant	496	496	166	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=UNC13A;BIOTYPE=protein_coding;EXON=7/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23150;TSL=5;APPRIS=P2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.068)
TCGA-C5-A0TN-01A-21D-A14W-08	19:17666677-17666677	T	ENSG00000130477	ENST00000550896	Transcript	missense_variant	662	496	166	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=UNC13A;BIOTYPE=protein_coding;EXON=7/40;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23150;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.058)
TCGA-C5-A0TN-01A-21D-A14W-08	19:17666677-17666677	T	ENSG00000130477	ENST00000551649	Transcript	missense_variant	646	496	166	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=UNC13A;BIOTYPE=protein_coding;EXON=7/45;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23150;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.001)
TCGA-C5-A0TN-01A-21D-A14W-08	19:17666677-17666677	T	ENSG00000130477	ENST00000552293	Transcript	missense_variant	623	496	166	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=UNC13A;BIOTYPE=protein_coding;EXON=7/42;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23150;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.047)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000391703	Transcript	missense_variant	638	497	166	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.451)
TCGA-EA-A3HR-01A-11D-A20U-09	16:717452-717452	A	ENSG00000103260	ENST00000567076	Transcript	missense_variant	498	500	167	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=METRN;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14151;TSL=5;APPRIS=A2;PolyPhen=benign(0.002)
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000353555	Transcript	stop_gained	557	500	167	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=5/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;SOMATIC=1,1;PHENO=1,1
TCGA-JW-A5VJ-01A-11D-A28B-09	4:39465151-39465151	A	ENSG00000121897	ENST00000261434	Transcript	missense_variant	617	499	167	V/I	Gtt/Att	rs756842628	IMPACT=MODERATE;SYMBOL=LIAS;BIOTYPE=protein_coding;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16429;TSL=1;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.24e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.065e-05
TCGA-JW-A5VJ-01A-11D-A28B-09	4:39465151-39465151	A	ENSG00000121897	ENST00000340169	Transcript	missense_variant	617	499	167	V/I	Gtt/Att	rs756842628	IMPACT=MODERATE;SYMBOL=LIAS;BIOTYPE=protein_coding;EXON=5/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16429;TSL=5;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.24e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.065e-05
TCGA-JW-A5VJ-01A-11D-A28B-09	4:39465151-39465151	A	ENSG00000121897	ENST00000381846	Transcript	missense_variant	545	499	167	V/I	Gtt/Att	rs756842628	IMPACT=MODERATE;SYMBOL=LIAS;BIOTYPE=protein_coding;EXON=5/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16429;TSL=3;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.24e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.065e-05
TCGA-IR-A3LI-01A-11D-A20U-09	6:26463496-26463496	T	ENSG00000112763	ENST00000541522	Transcript	missense_variant	840	500	167	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=BTN2A1;BIOTYPE=protein_coding;EXON=3/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1136;TSL=2;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.673)
TCGA-FU-A5XV-01A-11D-A28B-09	19:1529760-1529760	T	ENSG00000185988	ENST00000334770	Transcript	synonymous_variant	1393	504	168	S	agC/agT	-	IMPACT=LOW;SYMBOL=PLK5;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27001;TSL=2
TCGA-FU-A5XV-01A-11D-A28B-09	19:1529760-1529760	T	ENSG00000185988	ENST00000454744	Transcript	synonymous_variant	1220	504	168	S	agC/agT	-	IMPACT=LOW;SYMBOL=PLK5;BIOTYPE=protein_coding;EXON=11/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27001;TSL=2
TCGA-FU-A5XV-01A-11D-A28B-09	19:1529760-1529760	T	ENSG00000185988	ENST00000588430	Transcript	synonymous_variant	504	504	168	S	agC/agT	-	IMPACT=LOW;SYMBOL=PLK5;BIOTYPE=protein_coding;EXON=6/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27001;TSL=5;APPRIS=P1
TCGA-IR-A3LF-01A-21D-A22X-09	11:45924612-45924612	A	ENSG00000165905	ENST00000529052	Transcript	missense_variant	641	506	169	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=LARGE2;BIOTYPE=protein_coding;EXON=6/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16522;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1BL-01A-11D-A13W-08	18:5891558-5891558	T	ENSG00000206432	ENST00000383490	Transcript	missense_variant	547	506	169	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TMEM200C;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37208;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1BL-01A-11D-A13W-08	18:5891558-5891558	T	ENSG00000206432	ENST00000581347	Transcript	missense_variant	1152	506	169	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TMEM200C;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37208;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-IR-A3L7-01A-21D-A20U-09	9:2643216-2643216	G	ENSG00000147852	ENST00000382099	Transcript	missense_variant	595	505	169	R/G	Agg/Ggg	rs777739092,COSM4849405	IMPACT=MODERATE;SYMBOL=VLDLR;BIOTYPE=protein_coding;EXON=5/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12698;TSL=1;APPRIS=A1;SIFT=tolerated(0.41);PolyPhen=benign(0.155);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.254e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.503e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-IR-A3L7-01A-21D-A20U-09	9:2643216-2643216	G	ENSG00000147852	ENST00000382100	Transcript	missense_variant	861	505	169	R/G	Agg/Ggg	rs777739092,COSM4849405	IMPACT=MODERATE;SYMBOL=VLDLR;BIOTYPE=protein_coding;EXON=5/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12698;TSL=1;APPRIS=P3;SIFT=tolerated(0.39);PolyPhen=benign(0.102);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.254e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.503e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BE-01B-11D-A13W-08	1:160156142-160156142	T	ENSG00000132681	ENST00000368081	Transcript	missense_variant	980	509	170	T/M	aCg/aTg	-	IMPACT=MODERATE;SYMBOL=ATP1A4;BIOTYPE=protein_coding;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14073;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.888)
TCGA-C5-A1BE-01B-11D-A13W-08	1:160156142-160156142	T	ENSG00000132681	ENST00000477338	Transcript	missense_variant,NMD_transcript_variant	964	509	170	T/M	aCg/aTg	-	IMPACT=MODERATE;SYMBOL=ATP1A4;BIOTYPE=nonsense_mediated_decay;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14073;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.935)
TCGA-EK-A2RJ-01A-11D-A18J-09	19:2271912-2271912	G	ENSG00000104904	ENST00000588673	Transcript	missense_variant	663	509	170	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=OAZ1;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8095;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.93)
TCGA-C5-A7CO-01A-11D-A351-09	19:4327333-4327333	T	ENSG00000178078	ENST00000601482	Transcript	missense_variant	564	508	170	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=5
TCGA-EK-A2RJ-01A-11D-A18J-09	19:12954365-12954365	G	ENSG00000179271	ENST00000316939	Transcript	missense_variant	536	512	171	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=GADD45GIP1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29996;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.932)
TCGA-DS-A0VM-01A-11D-A10S-08	6:31732268-31732268	A	ENSG00000213719	ENST00000375779	Transcript	synonymous_variant	653	513	171	N	aaC/aaT	COSM3662392	IMPACT=LOW;SYMBOL=CLIC1;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2062;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A0VM-01A-11D-A10S-08	6:31732268-31732268	A	ENSG00000213719	ENST00000375780	Transcript	synonymous_variant	1086	513	171	N	aaC/aaT	COSM3662392	IMPACT=LOW;SYMBOL=CLIC1;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2062;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A0VM-01A-11D-A10S-08	6:31732268-31732268	A	ENSG00000213719	ENST00000375784	Transcript	synonymous_variant	780	513	171	N	aaC/aaT	COSM3662392	IMPACT=LOW;SYMBOL=CLIC1;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2062;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A0VM-01A-11D-A10S-08	6:31732268-31732268	A	ENSG00000213719	ENST00000395892	Transcript	synonymous_variant	723	513	171	N	aaC/aaT	COSM3662392	IMPACT=LOW;SYMBOL=CLIC1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2062;TSL=3;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A0VM-01A-11D-A10S-08	6:31732268-31732268	A	ENSG00000213719	ENST00000616760	Transcript	synonymous_variant	626	513	171	N	aaC/aaT	COSM3662392	IMPACT=LOW;SYMBOL=CLIC1;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2062;TSL=2;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-EK-A2GZ-01A-11D-A17W-09	18:2707601-2707601	A	ENSG00000101596	ENST00000577880	Transcript	missense_variant,NMD_transcript_variant	515	515	172	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=5/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2
TCGA-Q1-A5R2-01A-11D-A28B-09	19:5914740-5914740	T	ENSG00000105519	ENST00000452990	Transcript	splice_region_variant,synonymous_variant	1006	519	173	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=CAPS;BIOTYPE=protein_coding;EXON=4/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1487;TSL=5
TCGA-Q1-A5R2-01A-11D-A28B-09	19:5914740-5914740	T	ENSG00000105519	ENST00000588776	Transcript	splice_region_variant,synonymous_variant	2886	519	173	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=CAPS;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1487;TSL=1
TCGA-EX-A69L-01A-11D-A32I-09	19:6586084-6586084	A	ENSG00000125726	ENST00000245903	Transcript	missense_variant	668	518	173	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=CD70;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11937;TSL=1;APPRIS=P1;SIFT=tolerated(0.21);PolyPhen=possibly_damaging(0.804)
TCGA-C5-A1BL-01A-11D-A13W-08	19:14516740-14516740	A	ENSG00000132002	ENST00000254322	Transcript	missense_variant	589	518	173	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=DNAJB1;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5270;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.876)
TCGA-C5-A1BI-01B-11D-A13W-08	12:56087878-56087878	A	ENSG00000065361	ENST00000415288	Transcript	missense_variant	740	520	174	G/R	Ggg/Agg	rs753556193	IMPACT=MODERATE;SYMBOL=ERBB3;BIOTYPE=protein_coding;EXON=7/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3431;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:8.637e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A3HE-01A-21D-A22X-09	19:1220433-1220433	A	ENSG00000118046	ENST00000326873	Transcript	synonymous_variant	975	525	175	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2
TCGA-C5-A3HE-01A-21D-A22X-09	19:1220433-1220433	A	ENSG00000118046	ENST00000586243	Transcript	synonymous_variant	1485	525	175	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	20:2816949-2816949	T	ENSG00000198326	ENST00000361033	Transcript	missense_variant	557	524	175	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=TMEM239;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:40044;TSL=2
TCGA-DS-A0VK-01A-21D-A10S-08	9:35685308-35685308	T	ENSG00000198467	ENST00000329305	Transcript	missense_variant	620	524	175	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TPM2;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12011;TSL=2;APPRIS=A1
TCGA-DS-A0VK-01A-21D-A10S-08	9:35685308-35685308	T	ENSG00000198467	ENST00000360958	Transcript	missense_variant	629	524	175	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TPM2;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12011;TSL=1;APPRIS=P4
TCGA-DS-A0VK-01A-21D-A10S-08	9:35685308-35685308	T	ENSG00000198467	ENST00000378292	Transcript	missense_variant	1727	524	175	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TPM2;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12011;TSL=1;APPRIS=A1
TCGA-DS-A0VK-01A-21D-A10S-08	9:35685308-35685308	T	ENSG00000198467	ENST00000378300	Transcript	missense_variant	610	524	175	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=TPM2;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12011;TSL=3
TCGA-C5-A2LX-01A-11D-A18J-09	19:1487842-1487842	T	ENSG00000115257	ENST00000591201	Transcript	missense_variant,NMD_transcript_variant	525	527	176	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PCSK4;BIOTYPE=nonsense_mediated_decay;EXON=5/14;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8746;TSL=5
TCGA-JW-A5VH-01A-11D-A28B-09	19:1807256-1807256	T	ENSG00000130270	ENST00000310127	Transcript	missense_variant	766	527	176	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=6/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=1;APPRIS=P3
TCGA-JW-A5VH-01A-11D-A28B-09	19:1807256-1807256	T	ENSG00000130270	ENST00000587160	Transcript	missense_variant	845	527	176	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=5
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000534764	Transcript	missense_variant,splice_region_variant	895	530	177	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=7/12;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=1;SIFT=tolerated(0.05);PolyPhen=benign(0.075)
TCGA-C5-A1ML-01A-11D-A14W-08	16:31201644-31201644	T	ENSG00000103490	ENST00000247470	Transcript	missense_variant	831	529	177	L/I	Ctc/Atc	-	IMPACT=MODERATE;SYMBOL=PYCARD;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16608;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.682)
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000532996	Transcript	missense_variant	608	534	178	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=6/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000262965	Transcript	synonymous_variant	603	534	178	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=8/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=1;APPRIS=P3;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000587235	Transcript	synonymous_variant	879	534	178	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=5;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000588136	Transcript	synonymous_variant	1031	534	178	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=7/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=2;APPRIS=A2;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000611869	Transcript	synonymous_variant	564	534	178	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=7/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=1;APPRIS=P3;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2R8-01A-21D-A18J-09	19:1220443-1220443	A	ENSG00000118046	ENST00000326873	Transcript	missense_variant	985	535	179	P/T	Ccg/Acg	COSM238600	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-EK-A2R8-01A-21D-A18J-09	19:1220443-1220443	A	ENSG00000118046	ENST00000586243	Transcript	missense_variant	1495	535	179	P/T	Ccg/Acg	COSM238600	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-C5-A2LX-01A-11D-A18J-09	19:1487842-1487842	T	ENSG00000115257	ENST00000300954	Transcript	missense_variant	598	536	179	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PCSK4;BIOTYPE=protein_coding;EXON=5/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8746;TSL=1;APPRIS=P1
TCGA-C5-A2LX-01A-11D-A18J-09	19:1487842-1487842	T	ENSG00000115257	ENST00000588671	Transcript	missense_variant	567	536	179	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PCSK4;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8746;TSL=4
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000231357	Transcript	missense_variant	654	535	179	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000505790	Transcript	missense_variant	992	535	179	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000513692	Transcript	missense_variant	810	535	179	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000378496	Transcript	missense_variant	1983	535	179	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=16/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000617908	Transcript	missense_variant	2072	535	179	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=16/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=5
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000578495	Transcript	missense_variant	554	538	180	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000585024	Transcript	missense_variant	552	538	180	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-FU-A23K-01A-11D-A16O-08	19:1013310-1013310	C	ENSG00000182087	ENST00000333175	Transcript	missense_variant	657	538	180	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=TMEM259;BIOTYPE=protein_coding;EXON=3/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17039;TSL=1;APPRIS=P3;SIFT=tolerated(0.68);PolyPhen=benign(0.025)
TCGA-FU-A23K-01A-11D-A16O-08	19:1013310-1013310	C	ENSG00000182087	ENST00000356663	Transcript	missense_variant	721	538	180	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=TMEM259;BIOTYPE=protein_coding;EXON=3/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17039;TSL=1;APPRIS=A2;SIFT=tolerated(0.71);PolyPhen=benign(0.158)
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000430077	Transcript	missense_variant	755	539	180	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000430077	Transcript	missense_variant	755	539	180	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000430077	Transcript	missense_variant	755	539	180	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000430077	Transcript	missense_variant	755	539	180	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000322282	Transcript	missense_variant,splice_region_variant	869	542	181	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=5;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=benign(0.037)
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000529750	Transcript	missense_variant,splice_region_variant	869	542	181	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=1;APPRIS=P2;SIFT=deleterious(0.02);PolyPhen=benign(0.013)
TCGA-EK-A2PM-01A-11D-A18J-09	12:11061753-11061753	G	ENSG00000226761	ENST00000533467	Transcript	missense_variant	542	542	181	N/T	aAc/aCc	-	IMPACT=MODERATE;SYMBOL=TAS2R46;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18877;APPRIS=P1;SIFT=tolerated(1);PolyPhen=benign(0.001)
TCGA-C5-A2LY-01A-31D-A18J-09	9:35957557-35957557	A	ENSG00000278889	ENST00000341959	Transcript	missense_variant	598	542	181	G/V	gGg/gTg	-	IMPACT=MODERATE;SYMBOL=OR2S2;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8276;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000293831	Transcript	missense_variant	560	544	182	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000577269	Transcript	missense_variant	549	544	182	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000582746	Transcript	missense_variant	544	544	182	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000584784	Transcript	missense_variant	548	544	182	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A2LZ-01A-11D-A20U-09	17:64001810-64001810	G	ENSG00000224383	ENST00000425164	Transcript	synonymous_variant	560	546	182	T	acC/acG	-	IMPACT=LOW;SYMBOL=PRR29;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25673;TSL=2;APPRIS=P4
TCGA-JW-A69B-01A-11D-A32I-09	19:1073273-1073273	G	ENSG00000180448	ENST00000313093	Transcript	synonymous_variant	786	546	182	T	acC/acG	-	IMPACT=LOW;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=3/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=1;APPRIS=P3
TCGA-EA-A44S-01A-12D-A26G-09	9:135945997-135945997	T	ENSG00000130560	ENST00000371756	Transcript	missense_variant,splice_region_variant	763	545	182	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=UBAC1;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30221;TSL=1;APPRIS=P1;SIFT=tolerated(0.76);PolyPhen=benign(0.347)
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000262315	Transcript	stop_lost	613	550	184	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=protein_coding;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=1;APPRIS=P2
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000317063	Transcript	stop_lost	610	550	184	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=protein_coding;EXON=4/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=5;APPRIS=A2
TCGA-EA-A78R-01A-11D-A32I-09	19:3656474-3656474	T	ENSG00000186111	ENST00000335312	Transcript	synonymous_variant	641	552	184	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=6/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=P3
TCGA-EA-A78R-01A-11D-A32I-09	19:3656474-3656474	T	ENSG00000186111	ENST00000537021	Transcript	synonymous_variant	552	552	184	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=6/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=A2
TCGA-EA-A78R-01A-11D-A32I-09	19:3656474-3656474	T	ENSG00000186111	ENST00000539785	Transcript	synonymous_variant	627	552	184	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=6/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=2;APPRIS=A2
TCGA-EA-A78R-01A-11D-A32I-09	19:3656474-3656474	T	ENSG00000186111	ENST00000589578	Transcript	synonymous_variant	552	552	184	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=6/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=A2
TCGA-C5-A2LZ-01A-11D-A20U-09	3:49841843-49841843	G	ENSG00000183763	ENST00000482582	Transcript	stop_lost	573	552	184	*/Y	taG/taC	-	IMPACT=HIGH;SYMBOL=TRAIP;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30764;TSL=5
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000440239	Transcript	stop_lost,NMD_transcript_variant	613	553	185	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=nonsense_mediated_decay;EXON=4/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=1
TCGA-C5-A7X3-01A-11D-A351-09	6:2836122-2836122	T	ENSG00000021355	ENST00000380739	Transcript	missense_variant	756	553	185	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=SERPINB1;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3311;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.965)
TCGA-EK-A2R8-01A-21D-A18J-09	6:47680153-47680153	T	ENSG00000164393	ENST00000296862	Transcript	missense_variant	554	554	185	R/M	aGg/aTg	rs770790899	IMPACT=MODERATE;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=P5;ExAC_MAF=C:8.277e-06;ExAC_Adj_MAF=C:8.291e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:6.06e-05
TCGA-JW-A69B-01A-11D-A32I-09	19:1073273-1073273	G	ENSG00000180448	ENST00000586866	Transcript	synonymous_variant	633	558	186	T	acC/acG	-	IMPACT=LOW;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=3/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=1;APPRIS=A2
TCGA-C5-A3HE-01A-21D-A22X-09	15:41191573-41191573	T	ENSG00000178997	ENST00000314992	Transcript	missense_variant	750	559	187	V/I	Gtt/Att	-	IMPACT=MODERATE;SYMBOL=EXD1;BIOTYPE=protein_coding;EXON=8/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28507;TSL=1;APPRIS=P3;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.644)
TCGA-C5-A2M1-01A-11D-A18J-09	16:683018-683018	T	ENSG00000161999	ENST00000562824	Transcript	missense_variant	603	559	187	G/R	Ggg/Agg	rs753565378	IMPACT=MODERATE;SYMBOL=JMJD8;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14148;TSL=1;APPRIS=A2;ExAC_MAF=A:2.477e-05;ExAC_Adj_MAF=A:2.508e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0.0003489;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	9:19300261-19300261	C	ENSG00000137145	ENST00000494124	Transcript	missense_variant,NMD_transcript_variant	559	560	187	R/P	cGt/cCt	-	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=nonsense_mediated_decay;EXON=5/28;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.999)
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000456860	Transcript	missense_variant,splice_region_variant	1076	563	188	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=8/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.013)
TCGA-Q1-A5R2-01A-11D-A28B-09	16:29859269-29859269	G	ENSG00000103502	ENST00000219789	Transcript	missense_variant	1441	562	188	V/L	Gtc/Ctc	-	IMPACT=MODERATE;SYMBOL=CDIPT;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1769;TSL=1;APPRIS=P1
TCGA-Q1-A5R2-01A-11D-A28B-09	16:29859269-29859269	G	ENSG00000103502	ENST00000569956	Transcript	missense_variant	648	562	188	V/L	Gtc/Ctc	-	IMPACT=MODERATE;SYMBOL=CDIPT;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1769;TSL=5;APPRIS=P1
TCGA-Q1-A5R2-01A-11D-A28B-09	16:29859269-29859269	G	ENSG00000103502	ENST00000570016	Transcript	missense_variant	805	562	188	V/L	Gtc/Ctc	-	IMPACT=MODERATE;SYMBOL=CDIPT;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1769;TSL=5;APPRIS=P1
TCGA-C5-A1BK-01B-11D-A13W-08	11:69062904-69062904	T	ENSG00000162341	ENST00000294309	Transcript	synonymous_variant	668	567	189	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TPCN2;BIOTYPE=protein_coding;EXON=6/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20820;TSL=1;APPRIS=P2
TCGA-C5-A1BK-01B-11D-A13W-08	11:69062904-69062904	T	ENSG00000162341	ENST00000542467	Transcript	synonymous_variant	604	567	189	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TPCN2;BIOTYPE=protein_coding;EXON=6/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20820;TSL=2
TCGA-C5-A1BK-01B-11D-A13W-08	11:69062904-69062904	T	ENSG00000162341	ENST00000635811	Transcript	synonymous_variant,NMD_transcript_variant	631	567	189	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TPCN2;BIOTYPE=nonsense_mediated_decay;EXON=6/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20820
TCGA-C5-A1BK-01B-11D-A13W-08	11:69062904-69062904	T	ENSG00000162341	ENST00000637342	Transcript	synonymous_variant	590	567	189	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TPCN2;BIOTYPE=protein_coding;EXON=6/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20820;APPRIS=A2
TCGA-C5-A1BK-01B-11D-A13W-08	11:69062904-69062904	T	ENSG00000162341	ENST00000637504	Transcript	synonymous_variant	633	567	189	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TPCN2;BIOTYPE=protein_coding;EXON=6/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20820
TCGA-C5-A1BK-01B-11D-A13W-08	18:2579017-2579017	C	ENSG00000080986	ENST00000261597	Transcript	missense_variant	749	567	189	M/I	atG/atC	-	IMPACT=MODERATE;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=6/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=1;APPRIS=P1
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000543736	Transcript	stop_gained	610	568	190	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=1
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000597896	Transcript	synonymous_variant	568	568	190	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=3;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000597896	Transcript	synonymous_variant	568	568	190	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=3;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000597896	Transcript	synonymous_variant	568	568	190	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=3;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000597896	Transcript	synonymous_variant	568	568	190	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=3;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000424361	Transcript	splice_region_variant,synonymous_variant	820	570	190	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000436220	Transcript	splice_region_variant,synonymous_variant	811	570	190	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000531294	Transcript	missense_variant	785	573	191	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=7/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=5;APPRIS=A2
TCGA-EK-A2RD-01A-12D-A20U-09	18:10857131-10857131	T	ENSG00000154864	ENST00000302079	Transcript	synonymous_variant	573	573	191	E	gaG/gaA	rs773775388	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=6/51;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;ExAC_MAF=T:1.222e-04;ExAC_Adj_MAF=T:4.823e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001271
TCGA-EK-A2RD-01A-12D-A20U-09	18:10857131-10857131	T	ENSG00000154864	ENST00000503781	Transcript	synonymous_variant	573	573	191	E	gaG/gaA	rs773775388	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=6/52;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=1;APPRIS=P2;ExAC_MAF=T:1.222e-04;ExAC_Adj_MAF=T:4.823e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001271
TCGA-EK-A2RD-01A-12D-A20U-09	18:10857131-10857131	T	ENSG00000154864	ENST00000580640	Transcript	synonymous_variant	573	573	191	E	gaG/gaA	rs773775388	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=6/54;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;APPRIS=A2;ExAC_MAF=T:1.222e-04;ExAC_Adj_MAF=T:4.823e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001271
TCGA-EK-A2RD-01A-12D-A20U-09	18:10857131-10857131	T	ENSG00000154864	ENST00000582913	Transcript	synonymous_variant,NMD_transcript_variant	573	573	191	E	gaG/gaA	rs773775388	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=nonsense_mediated_decay;EXON=6/54;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;ExAC_MAF=T:1.222e-04;ExAC_Adj_MAF=T:4.823e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001271
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000508261	Transcript	stop_gained,NMD_transcript_variant	678	573	191	W/*	tgG/tgA	-	IMPACT=HIGH;SYMBOL=IRX4;BIOTYPE=nonsense_mediated_decay;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1
TCGA-HM-A3JK-01A-11D-A21Q-09	11:373229-373229	A	ENSG00000182272	ENST00000329962	Transcript	missense_variant	574	574	192	E/K	Gag/Aag	COSM4854941	IMPACT=MODERATE;SYMBOL=B4GALNT4;BIOTYPE=protein_coding;EXON=6/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26315;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-C5-A2M1-01A-11D-A18J-09	19:549708-549708	C	ENSG00000197540	ENST00000592501	Transcript	missense_variant	725	574	192	T/P	Act/Cct	-	IMPACT=MODERATE;SYMBOL=GZMM;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4712;TSL=3;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.906)
TCGA-C5-A7UC-01A-11D-A351-09	19:590519-590519	A	ENSG00000099822	ENST00000251287	Transcript	missense_variant	627	574	192	E/K	Gag/Aag	COSM4828084	IMPACT=MODERATE;SYMBOL=HCN2;BIOTYPE=protein_coding;EXON=1/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4846;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998);SOMATIC=1;PHENO=1
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000565582	Transcript	stop_gained,NMD_transcript_variant	577	577	193	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=nonsense_mediated_decay;EXON=6/9;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=3
TCGA-DG-A2KK-01A-11D-A17W-09	17:7577085-7577085	T	ENSG00000161960	ENST00000581384	Transcript	missense_variant	576	577	193	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-Q1-A73S-01A-11D-A33O-09	19:2762565-2762565	C	ENSG00000104969	ENST00000221566	Transcript	missense_variant	739	577	193	K/E	Aag/Gag	-	IMPACT=MODERATE;SYMBOL=SGTA;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10819;TSL=1;APPRIS=P1
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000526545	Transcript	synonymous_variant	582	582	194	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=3
TCGA-MY-A5BE-01A-21D-A26G-09	19:2917298-2917298	A	ENSG00000171970	ENST00000523428	Transcript	missense_variant	726	581	194	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.663)
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423238-56423238	T	ENSG00000198440	ENST00000291598	Transcript	stop_gained	745	580	194	R/*	Cga/Tga	rs780680078	IMPACT=HIGH;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=3;APPRIS=P1;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.443e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0.0001519;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423238-56423238	T	ENSG00000198440	ENST00000333201	Transcript	stop_gained	790	580	194	R/*	Cga/Tga	rs780680078	IMPACT=HIGH;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=2;APPRIS=P1;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.443e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0.0001519;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2H0-01A-11D-A17W-09	1:32673549-32673549	T	ENSG00000162521	ENST00000463378	Transcript	missense_variant	582	583	195	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=RBBP4;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9887;TSL=5
TCGA-HG-A2PA-01A-11D-A20U-09	11:94587123-94587123	G	ENSG00000134627	ENST00000543336	Transcript	missense_variant,NMD_transcript_variant	853	583	195	S/G	Agt/Ggt	-	IMPACT=MODERATE;SYMBOL=PIWIL4;BIOTYPE=nonsense_mediated_decay;EXON=7/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18444;TSL=2;SIFT=deleterious(0);PolyPhen=benign(0.373)
TCGA-C5-A1MH-01A-11D-A14W-08	17:38711879-38711879	C	ENSG00000275023	ENST00000620609	Transcript	synonymous_variant	676	585	195	G	ggG/ggC	-	IMPACT=LOW;SYMBOL=MLLT6;BIOTYPE=protein_coding;EXON=7/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7138;TSL=1;APPRIS=A2
TCGA-C5-A1MH-01A-11D-A14W-08	17:38711879-38711879	C	ENSG00000275023	ENST00000621332	Transcript	synonymous_variant	676	585	195	G	ggG/ggC	-	IMPACT=LOW;SYMBOL=MLLT6;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7138;TSL=1;APPRIS=P2
TCGA-R2-A69V-01A-11D-A32I-09	18:2951060-2951060	T	ENSG00000101577	ENST00000261596	Transcript	synonymous_variant	824	585	195	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=4/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=1;APPRIS=P1
TCGA-R2-A69V-01A-11D-A32I-09	18:2951060-2951060	T	ENSG00000101577	ENST00000584294	Transcript	synonymous_variant	823	585	195	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=3
TCGA-DS-A0VK-01A-21D-A10S-08	9:6434113-6434113	T	ENSG00000147854	ENST00000276893	Transcript	missense_variant	752	584	195	T/M	aCg/aTg	COSM462387	IMPACT=MODERATE;SYMBOL=UHRF2;BIOTYPE=protein_coding;EXON=3/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12557;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.996);SOMATIC=1;PHENO=1
TCGA-DS-A0VK-01A-21D-A10S-08	9:6434113-6434113	T	ENSG00000147854	ENST00000468435	Transcript	missense_variant,NMD_transcript_variant	924	584	195	T/M	aCg/aTg	COSM462387	IMPACT=MODERATE;SYMBOL=UHRF2;BIOTYPE=nonsense_mediated_decay;EXON=3/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12557;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.996);SOMATIC=1;PHENO=1
TCGA-JW-A5VH-01A-11D-A28B-09	16:775082-775082	A	ENSG00000162006	ENST00000543963	Transcript	missense_variant	587	587	196	S/L	tCg/tTg	-	IMPACT=MODERATE;SYMBOL=MSLNL;BIOTYPE=protein_coding;EXON=6/15;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14170;TSL=5;SIFT=deleterious_low_confidence(0.01);PolyPhen=benign(0.079)
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000578524	Transcript	missense_variant	585	587	196	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;SIFT=tolerated(0.46);PolyPhen=benign(0.168);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000314319	Transcript	missense_variant	744	588	196	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=6/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=P2
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000419673	Transcript	missense_variant	805	588	196	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=7/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=P2
TCGA-EA-A1QS-01A-61D-A22X-09	9:35064274-35064274	A	ENSG00000165280	ENST00000358901	Transcript	missense_variant	1484	588	196	E/D	gaA/gaT	-	IMPACT=MODERATE;SYMBOL=VCP;BIOTYPE=protein_coding;EXON=6/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12666;TSL=1;APPRIS=P1;SIFT=tolerated(0.38);PolyPhen=benign(0)
TCGA-C5-A7CH-01A-11D-A33O-09	14:23103689-23103689	G	ENSG00000283654	ENST00000637218	Transcript	missense_variant	661	589	197	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=RP11-244E17.1;BIOTYPE=protein_coding;EXON=4/16;STRAND=-1;SYMBOL_SOURCE=Clone_based_vega_gene;APPRIS=P1;PolyPhen=benign(0)
TCGA-JW-A69B-01A-11D-A32I-09	19:1073273-1073273	G	ENSG00000180448	ENST00000539243	Transcript	synonymous_variant	697	594	198	T	acC/acG	-	IMPACT=LOW;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=3/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=2;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	19:3151814-3151814	A	ENSG00000060558	ENST00000262958	Transcript	missense_variant	851	593	198	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=GNA15;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4383;TSL=1;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.936)
TCGA-LP-A5U2-01A-11D-A28B-09	19:5047638-5047638	A	ENSG00000127663	ENST00000159111	Transcript	missense_variant	813	595	199	Y/N	Tac/Aac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=6/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1;APPRIS=P1
TCGA-LP-A5U2-01A-11D-A28B-09	19:5047638-5047638	A	ENSG00000127663	ENST00000381759	Transcript	missense_variant	802	595	199	Y/N	Tac/Aac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=6/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-LP-A5U2-01A-11D-A28B-09	19:5047638-5047638	A	ENSG00000127663	ENST00000536461	Transcript	missense_variant	635	595	199	Y/N	Tac/Aac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=5/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-LP-A5U2-01A-11D-A28B-09	19:5047638-5047638	A	ENSG00000127663	ENST00000611640	Transcript	missense_variant	821	595	199	Y/N	Tac/Aac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=6/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=5
TCGA-EK-A2RN-01A-12D-A20U-09	19:51380253-51380253	A	ENSG00000105370	ENST00000221973	Transcript	missense_variant	639	596	199	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=LIM2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6610;TSL=1;SIFT=tolerated(0.33);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7UH-01A-11D-A351-09	22:50278464-50278464	T	ENSG00000196576	ENST00000614805	Transcript	synonymous_variant	943	597	199	G	ggG/ggA	COSM4887281	IMPACT=LOW;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=9/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	22:50278464-50278464	T	ENSG00000196576	ENST00000614805	Transcript	synonymous_variant	943	597	199	G	ggG/ggA	COSM4887281	IMPACT=LOW;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=9/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;SOMATIC=1;PHENO=1
TCGA-IR-A3LF-01A-21D-A22X-09	11:45924612-45924612	A	ENSG00000165905	ENST00000325468	Transcript	missense_variant	704	599	200	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=LARGE2;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16522;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-IR-A3LF-01A-21D-A22X-09	11:45924612-45924612	A	ENSG00000165905	ENST00000401752	Transcript	missense_variant	698	599	200	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=LARGE2;BIOTYPE=protein_coding;EXON=5/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16522;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-IR-A3LF-01A-21D-A22X-09	11:45924612-45924612	A	ENSG00000165905	ENST00000531526	Transcript	missense_variant	710	599	200	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=LARGE2;BIOTYPE=protein_coding;EXON=5/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16522;TSL=2;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-C5-A2LZ-01A-11D-A20U-09	3:49841843-49841843	G	ENSG00000183763	ENST00000331456	Transcript	stop_lost	714	600	200	*/Y	taG/taC	-	IMPACT=HIGH;SYMBOL=TRAIP;BIOTYPE=protein_coding;EXON=7/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30764;TSL=1;APPRIS=P1
TCGA-IR-A3LF-01A-21D-A22X-09	5:226026-226026	C	ENSG00000073578	ENST00000264932	Transcript	synonymous_variant	715	600	200	L	ctG/ctC	rs201967413	IMPACT=LOW;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=5/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=1;APPRIS=P1;GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0007;EA_MAF=G:0;ExAC_MAF=G:1.730e-04;ExAC_Adj_MAF=G:0.0001731;ExAC_AFR_MAF=G:0.001925;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.056e-05
TCGA-IR-A3LF-01A-21D-A22X-09	5:226026-226026	C	ENSG00000073578	ENST00000504309	Transcript	synonymous_variant	653	600	200	L	ctG/ctC	rs201967413	IMPACT=LOW;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=5;GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0007;EA_MAF=G:0;ExAC_MAF=G:1.730e-04;ExAC_Adj_MAF=G:0.0001731;ExAC_AFR_MAF=G:0.001925;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.056e-05
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000409797	Transcript	synonymous_variant	858	609	203	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000425673	Transcript	synonymous_variant	1459	609	203	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=P2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000409797	Transcript	synonymous_variant	858	609	203	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=A2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-DG-A2KK-01A-11D-A17W-09	19:39416865-39416865	T	ENSG00000090924	ENST00000425673	Transcript	synonymous_variant	1459	609	203	L	ctC/ctT	rs758082014	IMPACT=LOW;SYMBOL=PLEKHG2;BIOTYPE=protein_coding;EXON=7/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29515;TSL=2;APPRIS=P2;ExAC_MAF=A:1.651e-05;ExAC_Adj_MAF=A:1.772e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.183e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A5U2-01A-11D-A28B-09	19:1234584-1234584	C	ENSG00000099625	ENST00000590083	Transcript	missense_variant	907	614	205	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=CBARP;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28617;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975)
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000511126	Transcript	missense_variant	710	613	205	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.99)
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000613726	Transcript	missense_variant	836	613	205	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-FU-A5XV-01A-11D-A28B-09	5:1879705-1879705	T	ENSG00000113430	ENST00000622814	Transcript	missense_variant	831	613	205	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=IRX4;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6129;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-DG-A2KK-01A-11D-A17W-09	15:48796084-48796084	C	ENSG00000103995	ENST00000380950	Transcript	missense_variant	805	617	206	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CEP152;BIOTYPE=protein_coding;EXON=6/27;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29298;TSL=1;APPRIS=A2
TCGA-DG-A2KK-01A-11D-A17W-09	15:48796084-48796084	C	ENSG00000103995	ENST00000399334	Transcript	missense_variant	651	617	206	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CEP152;BIOTYPE=protein_coding;EXON=6/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29298;TSL=1;APPRIS=P3
TCGA-DG-A2KK-01A-11D-A17W-09	15:48796084-48796084	C	ENSG00000103995	ENST00000560322	Transcript	missense_variant	810	617	206	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=CEP152;BIOTYPE=non_stop_decay;EXON=6/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29298;TSL=1;APPRIS=A2
TCGA-Q1-A73R-01A-11D-A33O-09	11:557577-557577	A	ENSG00000185522	ENST00000329451	Transcript	missense_variant	682	619	207	G/W	Ggg/Tgg	rs146558617,COSM4856089	IMPACT=MODERATE;SYMBOL=LMNTD2;BIOTYPE=protein_coding;EXON=6/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28561;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);GMAF=T:0.0046;AFR_MAF=T:0.0000;AMR_MAF=T:0.0072;EAS_MAF=T:0.0000;EUR_MAF=T:0.0080;SAS_MAF=T:0.0102;AA_MAF=T:0.002;EA_MAF=T:0.0086;ExAC_MAF=T:8.092e-03;ExAC_Adj_MAF=T:0.008142;ExAC_AFR_MAF=T:0.00117;ExAC_AMR_MAF=T:0.008241;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.009231;ExAC_NFE_MAF=T:0.00927;ExAC_OTH_MAF=T:0.01566;ExAC_SAS_MAF=T:0.01134;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A2IP-01A-11D-A17W-09	11:64116887-64116887	C	ENSG00000126500	ENST00000246841	Transcript	missense_variant	1663	620	207	G/A	gGc/gCc	rs758629451	IMPACT=MODERATE;SYMBOL=FLRT1;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3760;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.853);ExAC_MAF=G:4.944e-05;ExAC_Adj_MAF=G:5.144e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0.0007046;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A2LX-01A-11D-A18J-09	19:1623966-1623966	A	ENSG00000071564	ENST00000453954	Transcript	synonymous_variant	955	621	207	P	ccC/ccT	rs753162083	IMPACT=LOW;SYMBOL=TCF3;BIOTYPE=protein_coding;EXON=8/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11633;TSL=5;ExAC_MAF=T:2.474e-05;ExAC_Adj_MAF=T:2.538e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.000331;ExAC_NFE_MAF=T:1.54e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-FU-A23K-01A-11D-A16O-08	19:48342779-48342779	T	ENSG00000161558	ENST00000435956	Transcript	synonymous_variant	760	621	207	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=TMEM143;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25603;TSL=1
TCGA-EA-A6QX-01A-12D-A33O-09	9:6434148-6434148	A	ENSG00000147854	ENST00000276893	Transcript	missense_variant	787	619	207	V/I	Gtt/Att	rs371780891	IMPACT=MODERATE;SYMBOL=UHRF2;BIOTYPE=protein_coding;EXON=3/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12557;TSL=1;APPRIS=P1;SIFT=tolerated(0.94);PolyPhen=benign(0.004);AA_MAF=A:0.0002;EA_MAF=A:0;ExAC_MAF=A:8.237e-06;ExAC_Adj_MAF=A:8.283e-06;ExAC_AFR_MAF=A:9.623e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EA-A6QX-01A-12D-A33O-09	9:6434148-6434148	A	ENSG00000147854	ENST00000468435	Transcript	missense_variant,NMD_transcript_variant	959	619	207	V/I	Gtt/Att	rs371780891	IMPACT=MODERATE;SYMBOL=UHRF2;BIOTYPE=nonsense_mediated_decay;EXON=3/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12557;TSL=1;SIFT=tolerated(0.84);PolyPhen=benign(0.01);AA_MAF=A:0.0002;EA_MAF=A:0;ExAC_MAF=A:8.237e-06;ExAC_Adj_MAF=A:8.283e-06;ExAC_AFR_MAF=A:9.623e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2RA-01A-11D-A18J-09	18:11753944-11753944	T	ENSG00000141404	ENST00000334049	Transcript	missense_variant,splice_region_variant	1231	623	208	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=GNAL;BIOTYPE=protein_coding;EXON=4/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4388;TSL=1;SIFT=deleterious(0.03);PolyPhen=benign(0.022)
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000610292	Transcript	synonymous_variant	994	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000610538	Transcript	synonymous_variant	877	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000619485	Transcript	synonymous_variant	880	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000620739	Transcript	synonymous_variant	934	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000622645	Transcript	synonymous_variant	877	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000635293	Transcript	synonymous_variant,NMD_transcript_variant	887	627	209	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=nonsense_mediated_decay;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=5;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-JW-A69B-01A-11D-A32I-09	19:1073273-1073273	G	ENSG00000180448	ENST00000590214	Transcript	synonymous_variant	706	627	209	T	acC/acG	-	IMPACT=LOW;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=3/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=5;APPRIS=A2
TCGA-C5-A7X3-01A-11D-A351-09	5:38511901-38511901	C	ENSG00000113594	ENST00000263409	Transcript	missense_variant	788	625	209	M/V	Atg/Gtg	-	IMPACT=MODERATE;SYMBOL=LIFR;BIOTYPE=protein_coding;EXON=6/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6597;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.06)
TCGA-C5-A7X3-01A-11D-A351-09	5:38511901-38511901	C	ENSG00000113594	ENST00000453190	Transcript	missense_variant	957	625	209	M/V	Atg/Gtg	-	IMPACT=MODERATE;SYMBOL=LIFR;BIOTYPE=protein_coding;EXON=6/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6597;TSL=2;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.06)
TCGA-MY-A5BD-01A-11D-A26G-09	1:155015288-155015288	G	ENSG00000160685	ENST00000292176	Transcript	missense_variant	841	628	210	K/E	Aaa/Gaa	-	IMPACT=MODERATE;SYMBOL=ZBTB7B;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18668;TSL=1;APPRIS=P3;SIFT=tolerated(0.71);PolyPhen=benign(0.217)
TCGA-MY-A5BD-01A-11D-A26G-09	1:155015288-155015288	G	ENSG00000160685	ENST00000368426	Transcript	missense_variant	765	628	210	K/E	Aaa/Gaa	-	IMPACT=MODERATE;SYMBOL=ZBTB7B;BIOTYPE=protein_coding;EXON=3/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18668;TSL=1;APPRIS=P3;SIFT=tolerated(0.71);PolyPhen=benign(0.217)
TCGA-MY-A5BD-01A-11D-A26G-09	1:155015288-155015288	G	ENSG00000160685	ENST00000535420	Transcript	missense_variant	948	628	210	K/E	Aaa/Gaa	-	IMPACT=MODERATE;SYMBOL=ZBTB7B;BIOTYPE=protein_coding;EXON=2/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18668;TSL=5;APPRIS=P3;SIFT=tolerated(0.71);PolyPhen=benign(0.217)
TCGA-EK-A2PM-01A-11D-A18J-09	10:79613995-79613995	T	ENSG00000122852	ENST00000398636	Transcript	missense_variant	767	629	210	T/I	aCc/aTc	rs772993629,COSM4950823,COSM5349405,COSM685234	IMPACT=MODERATE;SYMBOL=SFTPA1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10798;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.236e-06;ExAC_AFR_MAF=G:9.61e-05;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	10:79613995-79613995	T	ENSG00000122852	ENST00000428376	Transcript	missense_variant	696	629	210	T/I	aCc/aTc	rs772993629,COSM4950823,COSM5349405,COSM685234	IMPACT=MODERATE;SYMBOL=SFTPA1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10798;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.236e-06;ExAC_AFR_MAF=G:9.61e-05;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000638086	Transcript	missense_variant,splice_region_variant	826	629	210	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;SIFT=tolerated(0.09);PolyPhen=benign(0.234)
TCGA-DS-A1OA-01A-11D-A16Y-08	17:39673167-39673167	A	ENSG00000161395	ENST00000378011	Transcript	missense_variant	673	630	210	L/F	ttG/ttT	rs375647212	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=2;SIFT=tolerated(0.06);PolyPhen=benign(0.022);AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.283e-06;ExAC_Adj_MAF=G:2.071e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.776e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-UC-A7PF-01A-11D-A351-09	16:1258192-1258192	T	ENSG00000095917	ENST00000397534	Transcript	missense_variant	666	633	211	W/C	tgG/tgT	-	IMPACT=MODERATE;SYMBOL=TPSD1;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14118;TSL=5;APPRIS=A2
TCGA-IR-A3LL-01A-11D-A20U-09	19:1043092-1043092	A	ENSG00000064687	ENST00000263094	Transcript	missense_variant	862	631	211	G/R	Gga/Aga	rs148324257	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=8/47;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=P2;AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.242e-06;ExAC_Adj_MAF=G:8.506e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.562e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-IR-A3LL-01A-11D-A20U-09	19:1043092-1043092	A	ENSG00000064687	ENST00000433129	Transcript	missense_variant	747	631	211	G/R	Gga/Aga	rs148324257	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=7/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=1;APPRIS=P2;AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.242e-06;ExAC_Adj_MAF=G:8.506e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.562e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2PM-01A-11D-A18J-09	6:22570207-22570207	T	ENSG00000112273	ENST00000510882	Transcript	missense_variant	715	632	211	G/V	gGc/gTc	-	IMPACT=MODERATE;SYMBOL=HDGFL1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21095;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.486)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000398969	Transcript	missense_variant	941	635	212	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=10/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=unknown(0)
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000455171	Transcript	stop_lost	695	634	212	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=protein_coding;EXON=3/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=1;APPRIS=A2
TCGA-Q1-A5R2-01A-11D-A28B-09	16:29859269-29859269	G	ENSG00000103502	ENST00000561555	Transcript	missense_variant	819	634	212	V/L	Gtc/Ctc	-	IMPACT=MODERATE;SYMBOL=CDIPT;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1769;TSL=2
TCGA-Q1-A73R-01A-11D-A33O-09	11:557577-557577	A	ENSG00000185522	ENST00000441853	Transcript	missense_variant	785	640	214	G/W	Ggg/Tgg	rs146558617,COSM4856089	IMPACT=MODERATE;SYMBOL=LMNTD2;BIOTYPE=protein_coding;EXON=7/9;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28561;TSL=3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995);GMAF=T:0.0046;AFR_MAF=T:0.0000;AMR_MAF=T:0.0072;EAS_MAF=T:0.0000;EUR_MAF=T:0.0080;SAS_MAF=T:0.0102;AA_MAF=T:0.002;EA_MAF=T:0.0086;ExAC_MAF=T:8.092e-03;ExAC_Adj_MAF=T:0.008142;ExAC_AFR_MAF=T:0.00117;ExAC_AMR_MAF=T:0.008241;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.009231;ExAC_NFE_MAF=T:0.00927;ExAC_OTH_MAF=T:0.01566;ExAC_SAS_MAF=T:0.01134;SOMATIC=0,1;PHENO=0,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:39673157-39673157	T	ENSG00000161395	ENST00000378011	Transcript	missense_variant	683	640	214	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.543)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000520267	Transcript	missense_variant	950	644	215	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=11/35;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=unknown(0)
TCGA-FU-A2QG-01A-11D-A18J-09	15:43695887-43695887	T	ENSG00000223572	ENST00000413453	Transcript	missense_variant	1168	644	215	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=CKMT1A;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31736;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.053)
TCGA-FU-A2QG-01A-11D-A18J-09	15:43695887-43695887	T	ENSG00000223572	ENST00000434505	Transcript	missense_variant	1036	644	215	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=CKMT1A;BIOTYPE=protein_coding;EXON=5/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31736;TSL=5;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.053)
TCGA-FU-A2QG-01A-11D-A18J-09	15:43695887-43695887	T	ENSG00000223572	ENST00000626814	Transcript	missense_variant	820	644	215	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=CKMT1A;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31736;TSL=5;SIFT=tolerated(0.19);PolyPhen=benign(0.046)
TCGA-C5-A7CO-01A-11D-A351-09	19:4327333-4327333	T	ENSG00000178078	ENST00000594605	Transcript	missense_variant	767	643	215	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=1;APPRIS=A2
TCGA-C5-A7CO-01A-11D-A351-09	19:4327333-4327333	T	ENSG00000178078	ENST00000600324	Transcript	missense_variant	711	643	215	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=2;APPRIS=P3
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000591092	Transcript	missense_variant	654	643	215	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=9/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=1;APPRIS=A2;SIFT=tolerated(0.34);PolyPhen=benign(0.015);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-EK-A2RK-01A-11D-A18J-09	19:2877608-2877608	G	ENSG00000172000	ENST00000586426	Transcript	missense_variant	734	647	216	S/C	tCt/tGt	COSM3531946	IMPACT=MODERATE;SYMBOL=ZNF556;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25669;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);SOMATIC=1;PHENO=1
TCGA-Q1-A73R-01A-11D-A33O-09	11:557577-557577	A	ENSG00000185522	ENST00000486629	Transcript	missense_variant	704	649	217	G/W	Ggg/Tgg	rs146558617,COSM4856089	IMPACT=MODERATE;SYMBOL=LMNTD2;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28561;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995);GMAF=T:0.0046;AFR_MAF=T:0.0000;AMR_MAF=T:0.0072;EAS_MAF=T:0.0000;EUR_MAF=T:0.0080;SAS_MAF=T:0.0102;AA_MAF=T:0.002;EA_MAF=T:0.0086;ExAC_MAF=T:8.092e-03;ExAC_Adj_MAF=T:0.008142;ExAC_AFR_MAF=T:0.00117;ExAC_AMR_MAF=T:0.008241;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0.009231;ExAC_NFE_MAF=T:0.00927;ExAC_OTH_MAF=T:0.01566;ExAC_SAS_MAF=T:0.01134;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A2M1-01A-11D-A18J-09	16:683018-683018	T	ENSG00000161999	ENST00000609261	Transcript	missense_variant	664	649	217	G/R	Ggg/Agg	rs753565378	IMPACT=MODERATE;SYMBOL=JMJD8;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14148;TSL=1;APPRIS=A2;ExAC_MAF=A:2.477e-05;ExAC_Adj_MAF=A:2.508e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0.0003489;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2RK-01A-11D-A18J-09	19:2877608-2877608	G	ENSG00000172000	ENST00000307635	Transcript	missense_variant	737	650	217	S/C	tCt/tGt	COSM3531946	IMPACT=MODERATE;SYMBOL=ZNF556;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25669;TSL=2;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996);SOMATIC=1;PHENO=1
TCGA-UC-A7PF-01A-11D-A351-09	16:1258192-1258192	T	ENSG00000095917	ENST00000211076	Transcript	missense_variant	802	654	218	W/C	tgG/tgT	-	IMPACT=MODERATE;SYMBOL=TPSD1;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14118;TSL=1;APPRIS=P2
TCGA-DS-A0VL-01A-21D-A10S-08	19:7626141-7626141	A	ENSG00000076924	ENST00000358368	Transcript	missense_variant	690	652	218	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=XAB2;BIOTYPE=protein_coding;EXON=5/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14089;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:7626141-7626141	A	ENSG00000076924	ENST00000358368	Transcript	missense_variant	690	652	218	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=XAB2;BIOTYPE=protein_coding;EXON=5/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14089;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:7626141-7626141	A	ENSG00000076924	ENST00000358368	Transcript	missense_variant	690	652	218	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=XAB2;BIOTYPE=protein_coding;EXON=5/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14089;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:7626141-7626141	A	ENSG00000076924	ENST00000358368	Transcript	missense_variant	690	652	218	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=XAB2;BIOTYPE=protein_coding;EXON=5/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14089;TSL=1;APPRIS=P1
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000254182	Transcript	missense_variant	846	653	218	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.663)
TCGA-C5-A1M7-01A-11D-A13W-08	19:4362616-4362616	G	ENSG00000141985	ENST00000598564	Transcript	missense_variant	707	657	219	M/I	atG/atC	rs200662405	IMPACT=MODERATE;SYMBOL=SH3GL1;BIOTYPE=protein_coding;EXON=8/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10830;TSL=2;GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0014;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;AA_MAF=A:0;EA_MAF=A:0.0001;ExAC_MAF=A:1.647e-04;ExAC_Adj_MAF=A:0.0001667;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0.0004355;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0.0002126;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.068e-05
TCGA-UC-A7PF-01A-11D-A351-09	19:11978581-11978581	T	ENSG00000197054	ENST00000358987	Transcript	missense_variant	784	657	219	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=ZNF763;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27614;TSL=1;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.997)
TCGA-EK-A2IP-01A-11D-A17W-09	1:26161951-26161951	T	ENSG00000197245	ENST00000374268	Transcript	synonymous_variant	847	660	220	S	agC/agT	-	IMPACT=LOW;SYMBOL=FAM110D;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25860;TSL=1;APPRIS=P1
TCGA-C5-A1MH-01A-11D-A14W-08	19:2813158-2813158	C	ENSG00000172009	ENST00000395212	Transcript	missense_variant	1437	659	220	C/S	tGc/tCc	rs757865226	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=2;ExAC_MAF=-:8.269e-06;ExAC_Adj_MAF=-:9.903e-06;ExAC_AFR_MAF=-:0;ExAC_AMR_MAF=-:9.899e-05;ExAC_EAS_MAF=-:0;ExAC_FIN_MAF=-:0;ExAC_NFE_MAF=-:0;ExAC_OTH_MAF=-:0;ExAC_SAS_MAF=-:0
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000034275	Transcript	missense_variant	662	658	220	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=9/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=1;APPRIS=A2;SIFT=tolerated(0.27);PolyPhen=benign(0.034);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-EK-A2RO-01A-11D-A18J-09	X:135291510-135291510	A	ENSG00000186376	ENST00000370766	Transcript	missense_variant	3368	658	220	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=ZNF75D;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13145;TSL=1;APPRIS=P3
TCGA-EA-A411-01A-11D-A243-09	X:152990941-152990941	T	ENSG00000198883	ENST00000361887	Transcript	missense_variant	1080	658	220	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=1;APPRIS=P2;SIFT=tolerated(0.37);PolyPhen=possibly_damaging(0.516)
TCGA-EA-A411-01A-11D-A243-09	X:152990941-152990941	T	ENSG00000198883	ENST00000439251	Transcript	missense_variant	1097	658	220	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=1;APPRIS=P2;SIFT=tolerated(0.37);PolyPhen=possibly_damaging(0.516)
TCGA-EA-A411-01A-11D-A243-09	X:152990941-152990941	T	ENSG00000198883	ENST00000452693	Transcript	missense_variant	997	658	220	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=2;APPRIS=P2;SIFT=tolerated(0.37);PolyPhen=possibly_damaging(0.516)
TCGA-EA-A411-01A-11D-A243-09	X:152990941-152990941	T	ENSG00000198883	ENST00000535214	Transcript	missense_variant	1082	658	220	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PNMA5;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18743;TSL=3;APPRIS=P2;SIFT=tolerated(0.37);PolyPhen=possibly_damaging(0.516)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000520133	Transcript	missense_variant	662	662	221	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=12/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;SIFT=deleterious(0.01);PolyPhen=probably_damaging(1)
TCGA-C5-A1BK-01B-11D-A13W-08	19:6755149-6755149	C	ENSG00000125731	ENST00000245908	Transcript	synonymous_variant	933	663	221	L	ctC/ctG	-	IMPACT=LOW;SYMBOL=SH2D3A;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16885;TSL=1;APPRIS=P1
TCGA-UC-A7PF-01A-11D-A351-09	19:12792434-12792434	T	ENSG00000171223	ENST00000302754	Transcript	synonymous_variant	939	663	221	P	ccG/ccT	-	IMPACT=LOW;SYMBOL=JUNB;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6205;APPRIS=P1
TCGA-C5-A2LZ-01A-11D-A20U-09	1:197128511-197128511	C	ENSG00000066279	ENST00000367408	Transcript	missense_variant	791	665	222	S/W	tCg/tGg	-	IMPACT=MODERATE;SYMBOL=ASPM;BIOTYPE=protein_coding;EXON=6/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19048;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000389301	Transcript	stop_gained	695	664	222	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=7/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=1;APPRIS=P3
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000389302	Transcript	stop_gained	706	664	222	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=1
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000534992	Transcript	stop_gained	704	664	222	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=1
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000563673	Transcript	stop_gained	684	664	222	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=1
TCGA-C5-A1BL-01A-11D-A13W-08	16:89805325-89805325	A	ENSG00000187741	ENST00000568369	Transcript	stop_gained	695	664	222	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=FANCA;BIOTYPE=protein_coding;EXON=7/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3582;TSL=2;APPRIS=A2
TCGA-C5-A1MH-01A-11D-A14W-08	19:2813158-2813158	C	ENSG00000172009	ENST00000590970	Transcript	missense_variant	663	665	222	C/S	tGc/tCc	rs757865226	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=3;ExAC_MAF=-:8.269e-06;ExAC_Adj_MAF=-:9.903e-06;ExAC_AFR_MAF=-:0;ExAC_AMR_MAF=-:9.899e-05;ExAC_EAS_MAF=-:0;ExAC_FIN_MAF=-:0;ExAC_NFE_MAF=-:0;ExAC_OTH_MAF=-:0;ExAC_SAS_MAF=-:0
TCGA-UC-A7PF-01A-11D-A351-09	19:11978581-11978581	T	ENSG00000197054	ENST00000343949	Transcript	missense_variant	821	666	222	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=ZNF763;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27614;TSL=2;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.801)
TCGA-MY-A5BD-01A-11D-A26G-09	20:2816949-2816949	T	ENSG00000241690	ENST00000380593	Transcript	synonymous_variant	749	666	222	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=RP5-860F19.8;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=2;APPRIS=P1
TCGA-C5-A2LZ-01A-11D-A20U-09	1:89583317-89583317	G	ENSG00000197147	ENST00000330947	Transcript	missense_variant	1027	667	223	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=LRRC8B;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30692;TSL=5;APPRIS=P1;SIFT=tolerated(0.87);PolyPhen=probably_damaging(0.931)
TCGA-C5-A2LZ-01A-11D-A20U-09	1:89583317-89583317	G	ENSG00000197147	ENST00000358200	Transcript	missense_variant	814	667	223	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=LRRC8B;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30692;TSL=5;SIFT=tolerated(0.54);PolyPhen=probably_damaging(0.97)
TCGA-C5-A2LZ-01A-11D-A20U-09	1:89583317-89583317	G	ENSG00000197147	ENST00000439853	Transcript	missense_variant	913	667	223	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=LRRC8B;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30692;TSL=1;APPRIS=P1;SIFT=tolerated(0.87);PolyPhen=probably_damaging(0.931)
TCGA-RA-A741-01A-11D-A33O-09	21:34799326-34799326	T	ENSG00000159216	ENST00000399240	Transcript	synonymous_variant	740	669	223	S	tcC/tcA	-	IMPACT=LOW;SYMBOL=RUNX1;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10471;TSL=3
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000545857	Transcript	missense_variant	671	671	224	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=6/25;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;SIFT=deleterious(0.03);PolyPhen=benign(0.044)
TCGA-EK-A2PM-01A-11D-A18J-09	10:79613995-79613995	T	ENSG00000122852	ENST00000419470	Transcript	missense_variant	750	674	225	T/I	aCc/aTc	rs772993629,COSM4950823,COSM5349405,COSM685234	IMPACT=MODERATE;SYMBOL=SFTPA1;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10798;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.975);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.236e-06;ExAC_AFR_MAF=G:9.61e-05;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-LP-A5U2-01A-11D-A28B-09	19:1234584-1234584	C	ENSG00000099625	ENST00000382477	Transcript	missense_variant	949	674	225	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=CBARP;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28617;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-MY-A5BE-01A-21D-A26G-09	19:2917298-2917298	A	ENSG00000171970	ENST00000306908	Transcript	missense_variant	825	677	226	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.663)
TCGA-C5-A3HE-01A-21D-A22X-09	19:42225080-42225080	C	ENSG00000167625	ENST00000301215	Transcript	missense_variant	902	677	226	G/A	gGg/gCg	COSM4405386	IMPACT=MODERATE;SYMBOL=ZNF526;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29415;TSL=1;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=probably_damaging(0.989);SOMATIC=1;PHENO=1
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000318041	Transcript	missense_variant	741	676	226	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=8/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.891)
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000441545	Transcript	missense_variant	718	676	226	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=8/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.891)
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000555003	Transcript	missense_variant	2032	676	226	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=8/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.891)
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000555981	Transcript	missense_variant	810	676	226	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.891)
TCGA-C5-A1MH-01A-11D-A14W-08	9:34658549-34658549	C	ENSG00000137070	ENST00000602473	Transcript	missense_variant	676	676	226	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=IL11RA;BIOTYPE=protein_coding;EXON=7/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5967;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.891)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000347302	Transcript	missense_variant	859	680	227	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.451)
TCGA-EK-A3GJ-01A-21D-A20U-09	2:70088422-70088422	T	ENSG00000169564	ENST00000303577	Transcript	stop_gained	969	679	227	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=PCBP1;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8647;APPRIS=P1
TCGA-C5-A1BJ-01A-11D-A13W-08	5:2749029-2749029	T	ENSG00000170561	ENST00000302057	Transcript	missense_variant	921	679	227	V/I	Gtc/Atc	rs765045315	IMPACT=MODERATE;SYMBOL=IRX2;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14359;TSL=1;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=possibly_damaging(0.883);ExAC_MAF=A:8.308e-06;ExAC_Adj_MAF=A:9.596e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.746e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BJ-01A-11D-A13W-08	5:2749029-2749029	T	ENSG00000170561	ENST00000382611	Transcript	missense_variant	928	679	227	V/I	Gtc/Atc	rs765045315	IMPACT=MODERATE;SYMBOL=IRX2;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14359;TSL=1;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=possibly_damaging(0.883);ExAC_MAF=A:8.308e-06;ExAC_Adj_MAF=A:9.596e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.746e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A2LX-01A-11D-A18J-09	9:894052-894052	T	ENSG00000137090	ENST00000382276	Transcript	missense_variant	828	679	227	N/Y	Aac/Tac	COSM4827571	IMPACT=MODERATE;SYMBOL=DMRT1;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2934;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.993);SOMATIC=1;PHENO=1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000348655	Transcript	stop_gained,splice_region_variant	968	682	228	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SOMATIC=1,1;PHENO=1,1
TCGA-MY-A5BE-01A-21D-A26G-09	19:2917298-2917298	A	ENSG00000171970	ENST00000614108	Transcript	missense_variant	831	683	228	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=ZNF57;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13125;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.748)
TCGA-IR-A3LI-01A-11D-A20U-09	6:26463496-26463496	T	ENSG00000112763	ENST00000312541	Transcript	missense_variant	931	683	228	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=BTN2A1;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1136;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.673)
TCGA-IR-A3LI-01A-11D-A20U-09	6:26463496-26463496	T	ENSG00000112763	ENST00000429381	Transcript	missense_variant	895	683	228	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=BTN2A1;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1136;TSL=1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.864)
TCGA-IR-A3LI-01A-11D-A20U-09	6:26463496-26463496	T	ENSG00000112763	ENST00000469185	Transcript	missense_variant	888	683	228	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=BTN2A1;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1136;TSL=1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.794)
TCGA-IR-A3LL-01A-11D-A20U-09	19:5789420-5789420	T	ENSG00000141994	ENST00000309061	Transcript	synonymous_variant	784	687	229	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=3/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=P3
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000348655	Transcript	missense_variant	974	688	230	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SIFT=tolerated(0.69);PolyPhen=benign(0.002);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-LP-A4AW-01A-11D-A243-09	5:13920589-13920589	G	ENSG00000039139	ENST00000265104	Transcript	missense_variant	794	689	230	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=DNAH5;BIOTYPE=protein_coding;EXON=6/79;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2950;TSL=1;APPRIS=P1;SIFT=tolerated(0.35);PolyPhen=benign(0.002)
TCGA-C5-A2M1-01A-11D-A18J-09	19:549708-549708	C	ENSG00000197540	ENST00000264553	Transcript	missense_variant	728	691	231	T/P	Act/Cct	-	IMPACT=MODERATE;SYMBOL=GZMM;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4712;TSL=1;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.906)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000407202	Transcript	missense_variant	690	692	231	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.812)
TCGA-LP-A5U2-01A-11D-A28B-09	5:5182233-5182233	A	ENSG00000145536	ENST00000274181	Transcript	missense_variant	829	691	231	E/K	Gaa/Aaa	COSM359983,COSM359984,COSM3616880,COSM3616881	IMPACT=MODERATE;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=4/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=2;APPRIS=P1;SIFT=tolerated(0.91);PolyPhen=benign(0.011);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-LP-A5U2-01A-11D-A28B-09	5:5182233-5182233	A	ENSG00000145536	ENST00000511368	Transcript	missense_variant	829	691	231	E/K	Gaa/Aaa	COSM359983,COSM359984,COSM3616880,COSM3616881	IMPACT=MODERATE;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=1;SIFT=tolerated(1);PolyPhen=benign(0.003);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-C5-A7CL-01A-11D-A32I-09	5:33963886-33963886	T	ENSG00000164175	ENST00000296589	Transcript	synonymous_variant	840	693	231	T	acC/acA	-	IMPACT=LOW;SYMBOL=SLC45A2;BIOTYPE=protein_coding;EXON=3/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16472;TSL=1;APPRIS=P1
TCGA-C5-A7CL-01A-11D-A32I-09	5:33963886-33963886	T	ENSG00000164175	ENST00000382102	Transcript	synonymous_variant	751	693	231	T	acC/acA	-	IMPACT=LOW;SYMBOL=SLC45A2;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16472;TSL=1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000258728	ENST00000556278	Transcript	missense_variant	751	691	231	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=RP11-195F19.29;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=5;APPRIS=P1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34656836-34656836	A	ENSG00000258728	ENST00000556278	Transcript	missense_variant	751	691	231	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=RP11-195F19.29;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=5;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	18:7049150-7049150	G	ENSG00000101680	ENST00000389658	Transcript	missense_variant	790	696	232	R/S	agG/agC	-	IMPACT=MODERATE;SYMBOL=LAMA1;BIOTYPE=protein_coding;EXON=5/63;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6481;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1BI-01B-11D-A13W-08	12:56087878-56087878	A	ENSG00000065361	ENST00000267101	Transcript	missense_variant	1137	697	233	G/R	Ggg/Agg	rs753556193	IMPACT=MODERATE;SYMBOL=ERBB3;BIOTYPE=protein_coding;EXON=6/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3431;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:8.637e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BI-01B-11D-A13W-08	12:56087878-56087878	A	ENSG00000065361	ENST00000551085	Transcript	missense_variant,NMD_transcript_variant	830	697	233	G/R	Ggg/Agg	rs753556193	IMPACT=MODERATE;SYMBOL=ERBB3;BIOTYPE=nonsense_mediated_decay;EXON=6/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3431;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:8.637e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BI-01B-11D-A13W-08	12:56087878-56087878	A	ENSG00000065361	ENST00000551242	Transcript	missense_variant,NMD_transcript_variant	793	697	233	G/R	Ggg/Agg	rs753556193	IMPACT=MODERATE;SYMBOL=ERBB3;BIOTYPE=nonsense_mediated_decay;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3431;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.236e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:8.637e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3WB-01A-11D-A22X-09	16:31476046-31476046	T	ENSG00000140682	ENST00000361773	Transcript	missense_variant	752	698	233	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=TGFB1I1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11767;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-FU-A3WB-01A-11D-A22X-09	16:31476046-31476046	T	ENSG00000140682	ENST00000394858	Transcript	missense_variant	782	698	233	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=TGFB1I1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11767;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-FU-A3WB-01A-11D-A22X-09	16:31476046-31476046	T	ENSG00000140682	ENST00000567607	Transcript	missense_variant	751	698	233	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=TGFB1I1;BIOTYPE=protein_coding;EXON=7/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11767;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-IR-A3LI-01A-11D-A20U-09	9:32634881-32634881	T	ENSG00000122728	ENST00000242310	Transcript	synonymous_variant	789	699	233	G	ggG/ggA	-	IMPACT=LOW;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1
TCGA-EK-A2PM-01A-11D-A18J-09	19:1556818-1556818	A	ENSG00000181588	ENST00000402693	Transcript	missense_variant	701	701	234	G/V	gGg/gTg	rs774101409	IMPACT=MODERATE;SYMBOL=MEX3D;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16734;TSL=1;APPRIS=P2;SIFT=tolerated(0.12);PolyPhen=possibly_damaging(0.817);ExAC_MAF=C:8.263e-06;ExAC_Adj_MAF=C:8.641e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.6e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000303210	Transcript	splice_region_variant,synonymous_variant	1184	702	234	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000393924	Transcript	splice_region_variant,synonymous_variant	830	702	234	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=1;APPRIS=P1
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000393926	Transcript	splice_region_variant,synonymous_variant	947	702	234	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5;APPRIS=P1
TCGA-EX-A69L-01A-11D-A32I-09	7:100678400-100678400	A	ENSG00000172354	ENST00000451587	Transcript	splice_region_variant,synonymous_variant	835	702	234	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=GNB2;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4398;TSL=5
TCGA-C5-A1M7-01A-11D-A13W-08	19:4362616-4362616	G	ENSG00000141985	ENST00000417295	Transcript	missense_variant	862	705	235	M/I	atG/atC	rs200662405	IMPACT=MODERATE;SYMBOL=SH3GL1;BIOTYPE=protein_coding;EXON=7/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10830;TSL=2;GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0014;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;AA_MAF=A:0;EA_MAF=A:0.0001;ExAC_MAF=A:1.647e-04;ExAC_Adj_MAF=A:0.0001667;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0.0004355;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0.0002126;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.068e-05
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360624-1360624	T	ENSG00000160953	ENST00000415183	Transcript	missense_variant	732	706	236	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=A2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360624-1360624	T	ENSG00000160953	ENST00000591337	Transcript	missense_variant	931	706	236	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360624-1360624	T	ENSG00000160953	ENST00000591806	Transcript	missense_variant	782	706	236	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=P2
TCGA-C5-A1BK-01B-11D-A13W-08	19:1360624-1360624	T	ENSG00000160953	ENST00000627377	Transcript	missense_variant	706	706	236	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5;APPRIS=A2
TCGA-EA-A3QD-01A-32D-A22X-09	4:30723058-30723058	A	ENSG00000169851	ENST00000511884	Transcript	missense_variant	705	706	236	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PCDH7;BIOTYPE=protein_coding;EXON=1/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8659;TSL=3;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.997)
TCGA-Q1-A5R1-01A-11D-A28B-09	9:35736237-35736237	T	ENSG00000107175	ENST00000353704	Transcript	missense_variant	1145	707	236	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=CREB3;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2347;TSL=1;APPRIS=P1
TCGA-HG-A2PA-01A-11D-A20U-09	11:94587123-94587123	G	ENSG00000134627	ENST00000446230	Transcript	missense_variant,NMD_transcript_variant	1236	709	237	S/G	Agt/Ggt	-	IMPACT=MODERATE;SYMBOL=PIWIL4;BIOTYPE=nonsense_mediated_decay;EXON=7/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18444;TSL=2;SIFT=deleterious(0);PolyPhen=benign(0.373)
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000615910	Transcript	synonymous_variant	711	711	237	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=5;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000305232	Transcript	synonymous_variant	720	709	237	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000305232	Transcript	synonymous_variant	720	709	237	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000305232	Transcript	synonymous_variant	720	709	237	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000305232	Transcript	synonymous_variant	720	709	237	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097143-32097143	G	ENSG00000168477	ENST00000375244	Transcript	missense_variant	912	710	237	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5;APPRIS=P1
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097143-32097143	G	ENSG00000168477	ENST00000479795	Transcript	missense_variant	851	710	237	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=1
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097143-32097143	G	ENSG00000168477	ENST00000613214	Transcript	missense_variant	710	710	237	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5
TCGA-UC-A7PF-01A-11D-A351-09	6:32097143-32097143	T	ENSG00000168477	ENST00000375244	Transcript	missense_variant	912	710	237	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5;APPRIS=P1;SIFT=tolerated(1);PolyPhen=benign(0.064)
TCGA-UC-A7PF-01A-11D-A351-09	6:32097143-32097143	T	ENSG00000168477	ENST00000479795	Transcript	missense_variant	851	710	237	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=1;SIFT=tolerated(1);PolyPhen=benign(0.232)
TCGA-UC-A7PF-01A-11D-A351-09	6:32097143-32097143	T	ENSG00000168477	ENST00000613214	Transcript	missense_variant	710	710	237	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5;SIFT=tolerated(1);PolyPhen=possibly_damaging(0.883)
TCGA-C5-A2M1-01A-11D-A18J-09	16:683018-683018	T	ENSG00000161999	ENST00000412368	Transcript	missense_variant	769	712	238	G/R	Ggg/Agg	rs753565378	IMPACT=MODERATE;SYMBOL=JMJD8;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14148;TSL=1;APPRIS=P2;ExAC_MAF=A:2.477e-05;ExAC_Adj_MAF=A:2.508e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0.0003489;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BL-01A-11D-A13W-08	16:22132909-22132909	T	ENSG00000175267	ENST00000299840	Transcript	missense_variant,NMD_transcript_variant	710	712	238	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=VWA3A;BIOTYPE=nonsense_mediated_decay;EXON=8/23;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27088;TSL=1;SIFT=tolerated(0.25);PolyPhen=benign(0.012)
TCGA-UC-A7PF-01A-11D-A351-09	18:6238035-6238035	T	ENSG00000154655	ENST00000317931	Transcript	missense_variant	914	713	238	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L3MBTL4;BIOTYPE=protein_coding;EXON=10/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26677;TSL=5;APPRIS=A2
TCGA-UC-A7PF-01A-11D-A351-09	18:6238035-6238035	T	ENSG00000154655	ENST00000400104	Transcript	missense_variant	914	713	238	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L3MBTL4;BIOTYPE=protein_coding;EXON=10/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26677;TSL=1
TCGA-UC-A7PF-01A-11D-A351-09	18:6238035-6238035	T	ENSG00000154655	ENST00000400105	Transcript	missense_variant	873	713	238	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L3MBTL4;BIOTYPE=protein_coding;EXON=10/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26677;TSL=2;APPRIS=P2
TCGA-C5-A1BF-01B-11D-A13W-08	11:280449-280449	T	ENSG00000174885	ENST00000312165	Transcript	stop_gained	715	715	239	E/*	Gag/Tag	COSM4836771	IMPACT=HIGH;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=1;APPRIS=P3;SOMATIC=1;PHENO=1
TCGA-C5-A1BF-01B-11D-A13W-08	11:280449-280449	T	ENSG00000174885	ENST00000534750	Transcript	stop_gained	920	715	239	E/*	Gag/Tag	COSM4836771	IMPACT=HIGH;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=2;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-IR-A3LL-01A-11D-A20U-09	19:438722-438722	T	ENSG00000129946	ENST00000264554	Transcript	missense_variant	716	716	239	R/H	cGc/cAc	COSM4849638,COSM4849639	IMPACT=MODERATE;SYMBOL=SHC2;BIOTYPE=protein_coding;EXON=4/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29869;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.344);SOMATIC=1,1;PHENO=1,1
TCGA-UC-A7PF-01A-11D-A351-09	19:11978581-11978581	T	ENSG00000267179	ENST00000590798	Transcript	missense_variant	853	717	239	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=CTD-2006C1.13;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=Clone_based_vega_gene;TSL=2;APPRIS=P5;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.971)
TCGA-DS-A1OA-01A-11D-A16Y-08	17:39673167-39673167	A	ENSG00000161395	ENST00000429199	Transcript	missense_variant	763	720	240	L/F	ttG/ttT	rs375647212	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=2;SIFT=tolerated(0.06);PolyPhen=benign(0.183);AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.283e-06;ExAC_Adj_MAF=G:2.071e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.776e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000240731	Transcript	missense_variant	838	719	240	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.451)
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000397570	Transcript	stop_gained,splice_region_variant	1131	721	241	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=5/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SOMATIC=1,1;PHENO=1,1
TCGA-EA-A50E-01A-21D-A26G-09	18:50918205-50918205	T	ENSG00000082212	ENST00000321341	Transcript	missense_variant	998	726	242	M/I	atG/atT	-	IMPACT=MODERATE;SYMBOL=ME2;BIOTYPE=protein_coding;EXON=7/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6984;TSL=1;APPRIS=P1
TCGA-EA-A50E-01A-21D-A26G-09	18:50918205-50918205	T	ENSG00000082212	ENST00000382927	Transcript	missense_variant	927	726	242	M/I	atG/atT	-	IMPACT=MODERATE;SYMBOL=ME2;BIOTYPE=protein_coding;EXON=7/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6984;TSL=1
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000586919	Transcript	synonymous_variant	726	726	242	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=5
TCGA-FU-A23K-01A-11D-A16O-08	19:48342779-48342779	T	ENSG00000161558	ENST00000293261	Transcript	synonymous_variant	1043	726	242	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=TMEM143;BIOTYPE=protein_coding;EXON=6/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25603;TSL=1;APPRIS=P1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000397570	Transcript	missense_variant	1137	727	243	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=5/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SIFT=tolerated(0.75);PolyPhen=benign(0);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EA-A44S-01A-12D-A26G-09	16:23079813-23079813	A	ENSG00000103404	ENST00000563525	Transcript	missense_variant	726	728	243	P/L	cCt/cTt	-	IMPACT=MODERATE;SYMBOL=USP31;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20060;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0)
TCGA-BI-A0VR-01A-11D-A10S-08	19:1487169-1487169	A	ENSG00000115257	ENST00000591201	Transcript	synonymous_variant,NMD_transcript_variant	727	729	243	P	ccC/ccT	rs755444796	IMPACT=LOW;SYMBOL=PCSK4;BIOTYPE=nonsense_mediated_decay;EXON=6/14;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8746;TSL=5;ExAC_MAF=T:2.485e-05;ExAC_Adj_MAF=T:2.68e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:4.915e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-MY-A5BD-01A-11D-A26G-09	1:155015288-155015288	G	ENSG00000160685	ENST00000417934	Transcript	missense_variant	1188	730	244	K/E	Aaa/Gaa	-	IMPACT=MODERATE;SYMBOL=ZBTB7B;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18668;TSL=2;APPRIS=A2;SIFT=tolerated(0.33);PolyPhen=benign(0.388)
TCGA-C5-A1MK-01A-11D-A14W-08	10:69407184-69407184	C	ENSG00000075073	ENST00000619173	Transcript	missense_variant	730	730	244	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=TACR2;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11527;TSL=5;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.939)
TCGA-IR-A3LI-01A-11D-A20U-09	17:39673157-39673157	T	ENSG00000161395	ENST00000429199	Transcript	missense_variant	773	730	244	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.824)
TCGA-C5-A7UH-01A-11D-A351-09	19:3119049-3119049	A	ENSG00000088256	ENST00000078429	Transcript	missense_variant	973	731	244	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=GNA11;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4379;TSL=1;APPRIS=P1
TCGA-C5-A3HE-01A-21D-A22X-09	15:41191573-41191573	T	ENSG00000178997	ENST00000458580	Transcript	missense_variant	999	733	245	V/I	Gtt/Att	-	IMPACT=MODERATE;SYMBOL=EXD1;BIOTYPE=protein_coding;EXON=10/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28507;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.644)
TCGA-Q1-A73P-01A-11D-A32I-09	6:16327578-16327578	G	ENSG00000124788	ENST00000244769	Transcript	missense_variant	1670	733	245	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1;SIFT=tolerated(0.1);PolyPhen=possibly_damaging(0.728)
TCGA-Q1-A73P-01A-11D-A32I-09	6:16327578-16327578	G	ENSG00000124788	ENST00000436367	Transcript	missense_variant	1655	733	245	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1;SIFT=tolerated(0.1);PolyPhen=possibly_damaging(0.728)
TCGA-UC-A7PF-01A-11D-A351-09	1:170024468-170024468	T	ENSG00000075945	ENST00000538366	Transcript	missense_variant	1405	736	246	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=KIFAP3;BIOTYPE=protein_coding;EXON=10/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17060;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.992)
TCGA-Q1-A5R2-01A-11D-A28B-09	19:4792590-4792590	C	ENSG00000141965	ENST00000269856	Transcript	missense_variant	910	736	246	G/R	Ggg/Cgg	-	IMPACT=MODERATE;SYMBOL=FEM1A;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16934;APPRIS=P1;SIFT=tolerated(0.17);PolyPhen=probably_damaging(0.953)
TCGA-LP-A4AV-01A-11D-A243-09	19:4513178-4513178	C	ENSG00000167676	ENST00000301286	Transcript	missense_variant	740	740	247	T/R	aCg/aGg	-	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=P2;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.566)
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000269305	Transcript	synonymous_variant	934	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;APPRIS=P1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000359597	Transcript	synonymous_variant	744	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000413465	Transcript	synonymous_variant	744	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000420246	Transcript	synonymous_variant	877	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000445888	Transcript	synonymous_variant	880	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;APPRIS=P1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000455263	Transcript	synonymous_variant	877	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-IR-A3LI-01A-11D-A20U-09	17:7674219-7674219	G	ENSG00000141510	ENST00000617185	Transcript	synonymous_variant	946	744	248	R	cgG/cgC	TP53_g.13381G>C,TP53_g.13381G>T,TP53_g.13381G>A,COSM44783,COSM45084,COSM45735,COSM4991081,COSM4991082,COSM4991083,COSM4991084,COSM4991085	IMPACT=LOW;SYMBOL=TP53;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;TSL=1;SOMATIC=0,0,0,1,1,1,1,1,1,1,1;PHENO=0,0,0,1,1,1,1,1,1,1,1
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000589364	Transcript	missense_variant	741	742	248	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=5;SIFT=deleterious(0.01);PolyPhen=benign(0.199)
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000301454	Transcript	missense_variant	849	742	248	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000334510	Transcript	missense_variant	849	742	248	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993)
TCGA-C5-A3HE-01A-21D-A22X-09	16:30369438-30369438	G	ENSG00000169221	ENST00000409939	Transcript	missense_variant	827	746	249	R/T	aGg/aCg	rs774090462	IMPACT=MODERATE;SYMBOL=TBC1D10B;BIOTYPE=protein_coding;EXON=1/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24510;TSL=1;APPRIS=P1;ExAC_MAF=T:1.779e-05;ExAC_Adj_MAF=T:0;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A1MK-01A-11D-A14W-08	9:39176011-39176011	A	ENSG00000106714	ENST00000358144	Transcript	missense_variant	801	745	249	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=5/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=5
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000354547	Transcript	missense_variant	1241	749	250	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=14/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.996)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000357811	Transcript	missense_variant	1241	749	250	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=14/38;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=deleterious(0.05);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000517713	Transcript	missense_variant	749	749	250	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=14/37;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=tolerated(0.07);PolyPhen=probably_damaging(1)
TCGA-FU-A3WB-01A-11D-A22X-09	16:31476046-31476046	T	ENSG00000140682	ENST00000394863	Transcript	missense_variant	879	749	250	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=TGFB1I1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11767;TSL=1;APPRIS=A1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-MY-A5BD-01A-11D-A26G-09	6:16327563-16327563	T	ENSG00000124788	ENST00000244769	Transcript	missense_variant	1685	748	250	V/I	Gtt/Att	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	6:16327563-16327563	T	ENSG00000124788	ENST00000436367	Transcript	missense_variant	1670	748	250	V/I	Gtt/Att	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	12:71972663-71972663	G	ENSG00000139287	ENST00000333850	Transcript	synonymous_variant	894	753	251	G	ggC/ggG	COSM5456361	IMPACT=LOW;SYMBOL=TPH2;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20692;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A1BK-01B-11D-A13W-08	19:648229-648229	A	ENSG00000070423	ENST00000589762	Transcript	missense_variant	866	754	252	A/S	Gcc/Tcc	COSM4826372	IMPACT=MODERATE;SYMBOL=RNF126;BIOTYPE=protein_coding;EXON=9/9;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21151;TSL=2;SIFT=tolerated(0.24);PolyPhen=probably_damaging(0.932);SOMATIC=1;PHENO=1
TCGA-EK-A2H0-01A-11D-A17W-09	9:35612927-35612927	C	ENSG00000137101	ENST00000259633	Transcript	missense_variant	879	755	252	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=CD72;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1696;TSL=1;APPRIS=P2;SIFT=tolerated(1);PolyPhen=benign(0.101)
TCGA-EK-A2H0-01A-11D-A17W-09	9:35612927-35612927	C	ENSG00000137101	ENST00000396757	Transcript	missense_variant	920	755	252	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=CD72;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1696;TSL=5;APPRIS=P2;SIFT=tolerated(1);PolyPhen=benign(0.101)
TCGA-EK-A2H0-01A-11D-A17W-09	9:35612927-35612927	C	ENSG00000137101	ENST00000612238	Transcript	missense_variant	755	755	252	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=CD72;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1696;TSL=5;APPRIS=A2;SIFT=tolerated(1);PolyPhen=benign(0.109)
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000522165	Transcript	missense_variant	758	758	253	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=14/38;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-C5-A1BJ-01A-11D-A13W-08	9:32419137-32419137	G	ENSG00000122729	ENST00000309951	Transcript	missense_variant	896	758	253	P/R	cCt/cGt	rs777994072	IMPACT=MODERATE;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=7/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.272);ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:0;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1BJ-01A-11D-A13W-08	9:32419137-32419137	G	ENSG00000122729	ENST00000379923	Transcript	missense_variant	964	758	253	P/R	cCt/cGt	rs777994072	IMPACT=MODERATE;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=8/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=5;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.272);ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:0;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1BJ-01A-11D-A13W-08	9:32419137-32419137	G	ENSG00000122729	ENST00000541043	Transcript	missense_variant	985	758	253	P/R	cCt/cGt	rs777994072	IMPACT=MODERATE;SYMBOL=ACO1;BIOTYPE=protein_coding;EXON=8/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:117;TSL=5;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.272);ExAC_MAF=G:8.237e-06;ExAC_Adj_MAF=G:0;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1MH-01A-11D-A14W-08	11:66605850-66605850	C	ENSG00000173992	ENST00000310190	Transcript	missense_variant	873	763	255	V/L	Gtt/Ctt	-	IMPACT=MODERATE;SYMBOL=CCS;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1613;TSL=5
TCGA-EA-A3QD-01A-32D-A22X-09	X:48688086-48688086	T	ENSG00000015285	ENST00000376701	Transcript	missense_variant	842	767	256	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=WAS;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12731;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.848)
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000397574	Transcript	stop_gained,splice_region_variant	1139	769	257	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=8/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SOMATIC=1,1;PHENO=1,1
TCGA-EX-A449-01A-11D-A243-09	2:119915184-119915184	A	ENSG00000088179	ENST00000263708	Transcript	missense_variant	1541	770	257	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=PTPN4;BIOTYPE=protein_coding;EXON=11/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9656;TSL=1;APPRIS=P1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000397574	Transcript	missense_variant	1145	775	259	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=8/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=A2;SIFT=tolerated(0.51);PolyPhen=benign(0);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-LP-A4AX-01A-12D-A243-09	17:38562885-38562885	A	ENSG00000277363	ENST00000617146	Transcript	missense_variant	1001	776	259	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=SRCIN1;BIOTYPE=protein_coding;EXON=6/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29506;TSL=2;APPRIS=P2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.966)
TCGA-MY-A5BD-01A-11D-A26G-09	19:14073659-14073659	T	ENSG00000141854	ENST00000269720	Transcript	missense_variant	776	776	259	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=MIR1199;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:50081;TSL=5;APPRIS=A2;SIFT=tolerated(0.14);PolyPhen=benign(0.264)
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097077-32097077	G	ENSG00000168477	ENST00000375244	Transcript	missense_variant	978	776	259	C/S	tGt/tCt	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.904)
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097077-32097077	G	ENSG00000168477	ENST00000479795	Transcript	missense_variant	917	776	259	C/S	tGt/tCt	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=3/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-C5-A3HE-01A-21D-A22X-09	6:32097077-32097077	G	ENSG00000168477	ENST00000613214	Transcript	missense_variant	776	776	259	C/S	tGt/tCt	-	IMPACT=MODERATE;SYMBOL=TNXB;BIOTYPE=protein_coding;EXON=2/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11976;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.942)
TCGA-C5-A3HE-01A-21D-A22X-09	9:5988363-5988363	G	ENSG00000183354	ENST00000381461	Transcript	missense_variant	776	776	259	R/T	aGa/aCa	COSM4827619	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=2/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.56);SOMATIC=1;PHENO=1
TCGA-C5-A3HE-01A-21D-A22X-09	9:5988363-5988363	G	ENSG00000183354	ENST00000399933	Transcript	missense_variant	776	776	259	R/T	aGa/aCa	COSM4827619	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=2/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.889);SOMATIC=1;PHENO=1
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000590577	Transcript	missense_variant	1058	778	260	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=2;SIFT=tolerated(0.16);PolyPhen=benign(0.036)
TCGA-UC-A7PF-01A-11D-A351-09	19:6828096-6828096	T	ENSG00000141968	ENST00000539284	Transcript	synonymous_variant	780	780	260	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=10/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=5
TCGA-Q1-A73P-01A-11D-A32I-09	16:68371400-68371400	C	ENSG00000103056	ENST00000219334	Transcript	missense_variant	1386	782	261	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=SMPD3;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14240;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.045)
TCGA-Q1-A73P-01A-11D-A32I-09	16:68371400-68371400	C	ENSG00000103056	ENST00000563226	Transcript	missense_variant	859	782	261	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=SMPD3;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14240;TSL=1;SIFT=deleterious(0.03);PolyPhen=benign(0.157)
TCGA-Q1-A73P-01A-11D-A32I-09	16:68371400-68371400	C	ENSG00000103056	ENST00000568373	Transcript	missense_variant	859	782	261	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=SMPD3;BIOTYPE=protein_coding;EXON=1/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14240;TSL=1;SIFT=deleterious(0.03);PolyPhen=benign(0.286)
TCGA-DS-A1OA-01A-11D-A16Y-08	17:39673167-39673167	A	ENSG00000161395	ENST00000300658	Transcript	missense_variant	876	783	261	L/F	ttG/ttT	rs375647212	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=benign(0.12);AA_MAF=G:0;EA_MAF=G:0.0001;ExAC_MAF=G:8.283e-06;ExAC_Adj_MAF=G:2.071e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.776e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A7CK-01A-11D-A32I-09	18:14105758-14105758	T	ENSG00000175322	ENST00000590202	Transcript	missense_variant	935	782	261	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=ZNF519;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30574;TSL=1;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=benign(0.322)
TCGA-UC-A7PF-01A-11D-A351-09	19:6828096-6828096	T	ENSG00000141968	ENST00000599806	Transcript	synonymous_variant	868	783	261	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=10/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1
TCGA-C5-A1MH-01A-11D-A14W-08	X:53430514-53430514	T	ENSG00000158423	ENST00000375327	Transcript	missense_variant	935	782	261	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=RIBC1;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26537;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=possibly_damaging(0.665)
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1430343-1430343	A	ENSG00000071626	ENST00000592453	Transcript	stop_retained_variant	825	786	262	*	taG/taA	rs749590658	IMPACT=LOW;SYMBOL=DAZAP1;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2683;TSL=5;ExAC_MAF=T:8.325e-06;ExAC_Adj_MAF=T:1.026e-05;ExAC_AFR_MAF=T:0.0001227;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2PI-01A-11D-A18J-09	19:3157769-3157769	G	ENSG00000060558	ENST00000262958	Transcript	synonymous_variant	1044	786	262	L	ctA/ctG	-	IMPACT=LOW;SYMBOL=GNA15;BIOTYPE=protein_coding;EXON=6/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4383;TSL=1;APPRIS=P1
TCGA-LP-A4AV-01A-11D-A243-09	19:4513178-4513178	C	ENSG00000167676	ENST00000633942	Transcript	missense_variant	883	785	262	T/R	aCg/aGg	-	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=5/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=A2;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.749)
TCGA-DS-A0VN-01A-21D-A10S-08	8:25319603-25319603	A	ENSG00000147459	ENST00000444569	Transcript	missense_variant	783	785	262	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=DOCK5;BIOTYPE=protein_coding;EXON=7/29;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23476;TSL=5
TCGA-C5-A1ME-01A-11D-A13W-08	9:35608000-35608000	T	ENSG00000107140	ENST00000336395	Transcript	missense_variant	1034	784	262	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=TESK1;BIOTYPE=protein_coding;EXON=7/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11731;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1ME-01A-11D-A13W-08	9:35608000-35608000	T	ENSG00000107140	ENST00000620767	Transcript	missense_variant	1051	784	262	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=TESK1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11731;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EK-A2PM-01A-11D-A18J-09	12:111744900-111744900	G	ENSG00000111271	ENST00000507683	Transcript	missense_variant	785	787	263	S/G	Agc/Ggc	-	IMPACT=MODERATE;SYMBOL=ACAD10;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21597;TSL=3;SIFT=tolerated_low_confidence(0.66);PolyPhen=benign(0)
TCGA-HG-A2PA-01A-11D-A20U-09	11:94587123-94587123	G	ENSG00000134627	ENST00000299001	Transcript	missense_variant	1001	790	264	S/G	Agt/Ggt	-	IMPACT=MODERATE;SYMBOL=PIWIL4;BIOTYPE=protein_coding;EXON=7/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18444;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.256)
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000337491	Transcript	synonymous_variant	855	790	264	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;APPRIS=P1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000337491	Transcript	synonymous_variant	855	790	264	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;APPRIS=P1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000337491	Transcript	synonymous_variant	855	790	264	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;APPRIS=P1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1BF-01B-11D-A13W-08	19:4174895-4174895	G	ENSG00000077463	ENST00000337491	Transcript	synonymous_variant	855	790	264	R	Agg/Cgg	rs765650936	IMPACT=LOW;SYMBOL=SIRT6;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14934;TSL=1;APPRIS=P1;ExAC_MAF=A:8.288e-06;ExAC_Adj_MAF=A:9.259e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.7e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-IR-A3LI-01A-11D-A20U-09	19:5786512-5786512	A	ENSG00000141994	ENST00000320699	Transcript	missense_variant	856	791	264	D/V	gAc/gTc	rs867637855	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=9/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=A2;SIFT=tolerated(0.21);PolyPhen=benign(0.036)
TCGA-C5-A1BF-01B-11D-A13W-08	8:72936146-72936146	A	ENSG00000182674	ENST00000523207	Transcript	missense_variant	1379	791	264	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=KCNB2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6232;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.992)
TCGA-C5-A1BF-01B-11D-A13W-08	8:72936146-72936146	A	ENSG00000182674	ENST00000523207	Transcript	missense_variant	1379	791	264	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=KCNB2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6232;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.992)
TCGA-C5-A1BF-01B-11D-A13W-08	8:72936146-72936146	A	ENSG00000182674	ENST00000523207	Transcript	missense_variant	1379	791	264	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=KCNB2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6232;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.992)
TCGA-C5-A1BF-01B-11D-A13W-08	8:72936146-72936146	A	ENSG00000182674	ENST00000523207	Transcript	missense_variant	1379	791	264	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=KCNB2;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6232;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.992)
TCGA-DG-A2KL-01A-11D-A17W-09	15:79294079-79294079	T	ENSG00000235711	ENST00000421388	Transcript	synonymous_variant	795	795	265	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=ANKRD34C;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33888;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	17:39673157-39673157	T	ENSG00000161395	ENST00000300658	Transcript	missense_variant	886	793	265	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PGAP3;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23719;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.877)
TCGA-EK-A2RA-01A-11D-A18J-09	19:1456386-1456386	T	ENSG00000115266	ENST00000238483	Transcript	synonymous_variant	997	795	265	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APC2;BIOTYPE=protein_coding;EXON=7/14;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24036;TSL=1
TCGA-FU-A40J-01A-11D-A243-09	19:3282169-3282169	G	ENSG00000161082	ENST00000292672	Transcript	missense_variant	831	794	265	S/C	tCc/tGc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.001)
TCGA-FU-A40J-01A-11D-A243-09	19:3282169-3282169	G	ENSG00000161082	ENST00000541430	Transcript	missense_variant	830	794	265	S/C	tCc/tGc	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=protein_coding;EXON=7/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;SIFT=tolerated(0.06);PolyPhen=probably_damaging(0.997)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000391703	Transcript	missense_variant	935	794	265	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=tolerated(0.88);PolyPhen=benign(0.03)
TCGA-EK-A2RA-01A-11D-A18J-09	19:1456386-1456386	T	ENSG00000115266	ENST00000233607	Transcript	synonymous_variant	1006	798	266	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APC2;BIOTYPE=protein_coding;EXON=8/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24036;TSL=1;APPRIS=P1
TCGA-EK-A2RA-01A-11D-A18J-09	19:1456386-1456386	T	ENSG00000115266	ENST00000535453	Transcript	synonymous_variant	2511	798	266	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APC2;BIOTYPE=protein_coding;EXON=7/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24036;TSL=1;APPRIS=P1
TCGA-EK-A2RA-01A-11D-A18J-09	19:1456386-1456386	T	ENSG00000115266	ENST00000590469	Transcript	synonymous_variant	1006	798	266	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=APC2;BIOTYPE=protein_coding;EXON=8/15;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24036;TSL=1
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000395111	Transcript	synonymous_variant	834	798	266	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=5/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=2
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000589123	Transcript	synonymous_variant	918	798	266	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=1;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	17:18158564-18158564	T	ENSG00000091536	ENST00000418233	Transcript	synonymous_variant	1423	801	267	D	gaC/gaT	-	IMPACT=LOW;SYMBOL=MYO15A;BIOTYPE=protein_coding;EXON=10/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7594;TSL=2
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000215637	Transcript	missense_variant	847	801	267	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=4/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=1;APPRIS=P4;SIFT=tolerated(0.48);PolyPhen=benign(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A73R-01A-11D-A33O-09	9:27949873-27949873	T	ENSG00000174482	ENST00000308675	Transcript	missense_variant	1244	799	267	F/I	Ttt/Att	-	IMPACT=MODERATE;SYMBOL=LINGO2;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21207;TSL=2;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.012)
TCGA-Q1-A73R-01A-11D-A33O-09	9:27949873-27949873	T	ENSG00000174482	ENST00000379992	Transcript	missense_variant	1249	799	267	F/I	Ttt/Att	-	IMPACT=MODERATE;SYMBOL=LINGO2;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21207;TSL=5;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.012)
TCGA-Q1-A73R-01A-11D-A33O-09	9:27949873-27949873	T	ENSG00000174482	ENST00000613945	Transcript	missense_variant	1194	799	267	F/I	Ttt/Att	-	IMPACT=MODERATE;SYMBOL=LINGO2;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21207;TSL=5;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.012)
TCGA-LP-A4AW-01A-11D-A243-09	X:53430536-53430536	G	ENSG00000158423	ENST00000375327	Transcript	synonymous_variant	957	804	268	R	cgT/cgG	rs782421863	IMPACT=LOW;SYMBOL=RIBC1;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26537;TSL=1;APPRIS=P1;ExAC_MAF=A:3.297e-05;ExAC_Adj_MAF=A:4.497e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:8.293e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EA-A6QX-01A-12D-A33O-09	12:50356026-50356026	T	ENSG00000185958	ENST00000327337	Transcript	missense_variant	806	806	269	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=FAM186A;BIOTYPE=protein_coding;EXON=4/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26980;TSL=5;APPRIS=P2;SIFT=deleterious(0.05);PolyPhen=benign(0.023)
TCGA-EA-A6QX-01A-12D-A33O-09	12:50356026-50356026	T	ENSG00000185958	ENST00000543111	Transcript	missense_variant	944	806	269	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=FAM186A;BIOTYPE=protein_coding;EXON=4/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26980;TSL=5;APPRIS=A2;SIFT=deleterious(0.05);PolyPhen=benign(0.001)
TCGA-EA-A3QD-01A-32D-A22X-09	5:9202081-9202081	C	ENSG00000112902	ENST00000382496	Transcript	missense_variant	1472	806	269	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=SEMA5A;BIOTYPE=protein_coding;EXON=9/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10736;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.044)
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000330243	Transcript	stop_gained,splice_region_variant	1195	808	270	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;APPRIS=P4;SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613863-613863	A	ENSG00000185507	ENST00000397566	Transcript	stop_gained,splice_region_variant	1218	808	270	E/*	Gag/Tag	COSM4831166,COSM4831167	IMPACT=HIGH;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=P4;SOMATIC=1,1;PHENO=1,1
TCGA-FU-A3WB-01A-11D-A22X-09	19:4844784-4844784	T	ENSG00000105355	ENST00000592528	Transcript	missense_variant	870	808	270	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=PLIN3;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16893;TSL=2;SIFT=tolerated(0.15);PolyPhen=benign(0.03)
TCGA-FU-A3HY-01A-11D-A21Q-09	9:37780697-37780697	C	ENSG00000107371	ENST00000327304	Transcript	synonymous_variant	823	810	270	S	tcC/tcG	rs748111732	IMPACT=LOW;SYMBOL=EXOSC3;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17944;TSL=1;APPRIS=P1;ExAC_MAF=A:9.061e-05;ExAC_Adj_MAF=A:9.066e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0006668
TCGA-Q1-A73P-01A-11D-A32I-09	X:130412691-130412691	T	ENSG00000134597	ENST00000305536	Transcript	missense_variant	876	812	271	P/L	cCg/cTg	rs377526825	IMPACT=MODERATE;SYMBOL=RBMX2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24282;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.759);GMAF=A:0.0003;AFR_MAF=A:0;AMR_MAF=A:0;EAS_MAF=A:0.001;EUR_MAF=A:0;SAS_MAF=A:0;AA_MAF=A:0.0003;EA_MAF=A:0;ExAC_MAF=A:6.618e-05;ExAC_Adj_MAF=A:5.745e-05;ExAC_AFR_MAF=A:0.0001264;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0.0004537;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:2.087e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000398978	Transcript	missense_variant	1307	815	272	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=protein_coding;EXON=15/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;APPRIS=P4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000330243	Transcript	missense_variant	1201	814	272	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=5;APPRIS=P4;SIFT=tolerated(0.58);PolyPhen=benign(0);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2PI-01A-11D-A18J-09	11:613857-613857	T	ENSG00000185507	ENST00000397566	Transcript	missense_variant	1224	814	272	A/T	Gcg/Acg	rs544913425,COSM4831256,COSM4831257	IMPACT=MODERATE;SYMBOL=IRF7;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6122;TSL=1;APPRIS=P4;SIFT=tolerated(0.58);PolyPhen=benign(0);GMAF=G:0.0002;AFR_MAF=G:0.0008;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;ExAC_MAF=G:2.496e-05;ExAC_Adj_MAF=G:4.842e-05;ExAC_AFR_MAF=G:0.0005633;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RJ-01A-11D-A18J-09	X:49071932-49071932	A	ENSG00000196998	ENST00000376358	Transcript	synonymous_variant	970	816	272	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=WDR45;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28912;TSL=2
TCGA-C5-A1MH-01A-11D-A14W-08	11:66605850-66605850	C	ENSG00000173992	ENST00000533244	Transcript	missense_variant	1261	820	274	V/L	Gtt/Ctt	-	IMPACT=MODERATE;SYMBOL=CCS;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1613;TSL=1;APPRIS=P1
TCGA-EK-A2PL-01A-11D-A18J-09	19:7963642-7963642	A	ENSG00000066044	ENST00000407627	Transcript	synonymous_variant	952	822	274	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ELAVL1;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3312;TSL=1;APPRIS=P1
TCGA-EK-A2PL-01A-11D-A18J-09	19:7963642-7963642	A	ENSG00000066044	ENST00000596459	Transcript	synonymous_variant	990	822	274	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ELAVL1;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3312;TSL=2;APPRIS=P1
TCGA-EA-A78R-01A-11D-A32I-09	14:50269245-50269245	T	ENSG00000087299	ENST00000261699	Transcript	missense_variant	842	824	275	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L2HGDH;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20499;TSL=1
TCGA-EA-A78R-01A-11D-A32I-09	14:50269245-50269245	T	ENSG00000087299	ENST00000267436	Transcript	missense_variant	1222	824	275	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L2HGDH;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20499;TSL=1;APPRIS=P1
TCGA-EA-A78R-01A-11D-A32I-09	14:50269245-50269245	T	ENSG00000087299	ENST00000421284	Transcript	missense_variant	903	824	275	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=L2HGDH;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20499;TSL=2;APPRIS=P1
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000622462	Transcript	missense_variant	871	825	275	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=5;APPRIS=A2;SIFT=tolerated(0.49);PolyPhen=unknown(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000341919	Transcript	synonymous_variant	913	825	275	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=1;APPRIS=P3
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000443272	Transcript	synonymous_variant	876	825	275	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=2;APPRIS=A2
TCGA-Q1-A5R3-01A-11D-A28B-09	19:3434392-3434392	G	ENSG00000141905	ENST00000590282	Transcript	synonymous_variant	879	825	275	S	tcC/tcG	-	IMPACT=LOW;SYMBOL=NFIC;BIOTYPE=protein_coding;EXON=5/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7786;TSL=2
TCGA-C5-A1MK-01A-11D-A14W-08	5:235338-235338	C	ENSG00000073578	ENST00000617470	Transcript	missense_variant,splice_region_variant	939	824	275	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.995)
TCGA-JX-A5QV-01A-22D-A28B-09	5:11199587-11199587	G	ENSG00000169862	ENST00000503622	Transcript	synonymous_variant	1027	825	275	A	gcG/gcC	rs771023998	IMPACT=LOW;SYMBOL=CTNND2;BIOTYPE=protein_coding;EXON=8/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2516;TSL=2;APPRIS=A2;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.237e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.498e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-BI-A0VR-01A-11D-A10S-08	19:1487169-1487169	A	ENSG00000115257	ENST00000300954	Transcript	missense_variant	889	827	276	P/L	cCc/cTc	rs755444796	IMPACT=MODERATE;SYMBOL=PCSK4;BIOTYPE=protein_coding;EXON=7/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8746;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=benign(0.007);ExAC_MAF=T:2.485e-05;ExAC_Adj_MAF=T:2.68e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:4.915e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-IR-A3LL-01A-11D-A20U-09	9:37441722-37441722	A	ENSG00000168795	ENST00000307750	Transcript	missense_variant	1019	830	277	A/V	gCt/gTt	rs749451855	IMPACT=MODERATE;SYMBOL=ZBTB5;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23836;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.249e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.639e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423490-56423490	G	ENSG00000198440	ENST00000291598	Transcript	missense_variant	997	832	278	R/G	Cgc/Ggc	-	IMPACT=MODERATE;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=3;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.997)
TCGA-C5-A7CK-01A-11D-A32I-09	19:56423490-56423490	G	ENSG00000198440	ENST00000333201	Transcript	missense_variant	1042	832	278	R/G	Cgc/Ggc	-	IMPACT=MODERATE;SYMBOL=ZNF583;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26427;TSL=2;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.997)
TCGA-EA-A3HQ-01A-11D-A20U-09	17:39974356-39974356	T	ENSG00000167914	ENST00000301659	Transcript	stop_gained	953	835	279	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=GSDMA;BIOTYPE=protein_coding;EXON=9/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13311;TSL=1;APPRIS=P1
TCGA-EA-A3HQ-01A-11D-A20U-09	17:39974356-39974356	T	ENSG00000167914	ENST00000635792	Transcript	stop_gained	883	835	279	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=GSDMA;BIOTYPE=protein_coding;EXON=9/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13311;APPRIS=P1
TCGA-C5-A1BK-01B-11D-A13W-08	19:648229-648229	A	ENSG00000070423	ENST00000292363	Transcript	missense_variant	991	835	279	A/S	Gcc/Tcc	COSM4826372	IMPACT=MODERATE;SYMBOL=RNF126;BIOTYPE=protein_coding;EXON=9/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21151;TSL=1;APPRIS=P1;SIFT=tolerated(0.31);PolyPhen=probably_damaging(0.932);SOMATIC=1;PHENO=1
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000541801	Transcript	missense_variant	1016	836	279	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=A2;SIFT=tolerated(0.07);PolyPhen=possibly_damaging(0.735)
TCGA-MY-A5BD-01A-11D-A26G-09	6:97246639-97246639	C	ENSG00000146263	ENST00000510018	Transcript	missense_variant	835	835	279	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=MMS22L;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;FLAGS=cds_end_NF,cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21475;TSL=5;SIFT=tolerated(0.67);PolyPhen=benign(0.005)
TCGA-EA-A5O9-01A-11D-A28B-09	9:17236576-17236576	T	ENSG00000044459	ENST00000380641	Transcript	synonymous_variant	863	837	279	D	gaC/gaT	rs755405267	IMPACT=LOW;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=2;APPRIS=A2;ExAC_MAF=C:8.279e-06;ExAC_Adj_MAF=C:8.473e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.523e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EA-A5O9-01A-11D-A28B-09	9:17236576-17236576	T	ENSG00000044459	ENST00000380647	Transcript	synonymous_variant	921	837	279	D	gaC/gaT	rs755405267	IMPACT=LOW;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=5/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3;ExAC_MAF=C:8.279e-06;ExAC_Adj_MAF=C:8.473e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.523e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-UC-A7PF-01A-11D-A351-09	1:170024468-170024468	T	ENSG00000075945	ENST00000367767	Transcript	missense_variant	959	838	280	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=KIFAP3;BIOTYPE=protein_coding;EXON=8/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17060;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.994)
TCGA-C5-A1MK-01A-11D-A14W-08	10:69407184-69407184	C	ENSG00000075073	ENST00000373306	Transcript	missense_variant	1382	838	280	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=TACR2;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11527;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=benign(0.092)
TCGA-C5-A1MF-01A-11D-A13W-08	6:26392863-26392863	T	ENSG00000124508	ENST00000482536	Transcript	missense_variant	924	838	280	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=BTN2A2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1137;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.935)
TCGA-JW-A5VJ-01A-11D-A28B-09	9:32485206-32485206	T	ENSG00000107201	ENST00000379868	Transcript	synonymous_variant	1343	840	280	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DDX58;BIOTYPE=protein_coding;EXON=9/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19102;TSL=5
TCGA-C5-A7CJ-01A-11D-A32I-09	10:69902782-69902782	A	ENSG00000197467	ENST00000479733	Transcript	missense_variant,NMD_transcript_variant	1335	842	281	R/Q	cGa/cAa	-	IMPACT=MODERATE;SYMBOL=COL13A1;BIOTYPE=nonsense_mediated_decay;EXON=16/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2190;TSL=5;SIFT=tolerated(0.05);PolyPhen=probably_damaging(1)
TCGA-Q1-A73Q-01A-21D-A32I-09	1:210016849-210016849	A	ENSG00000143469	ENST00000637265	Transcript	stop_gained	1471	846	282	C/*	tgC/tgA	-	IMPACT=HIGH;SYMBOL=SYT14;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23143
TCGA-UC-A7PF-01A-11D-A351-09	18:2938016-2938016	C	ENSG00000101577	ENST00000261596	Transcript	missense_variant	1083	844	282	H/D	Cac/Gac	COSM1750501	IMPACT=MODERATE;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=7/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-FU-A3WB-01A-11D-A22X-09	19:4844784-4844784	T	ENSG00000105355	ENST00000221957	Transcript	missense_variant	1021	844	282	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=PLIN3;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16893;TSL=1;APPRIS=P3;SIFT=tolerated(0.16);PolyPhen=benign(0.05)
TCGA-FU-A3WB-01A-11D-A22X-09	19:4844784-4844784	T	ENSG00000105355	ENST00000585479	Transcript	missense_variant	947	844	282	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=PLIN3;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16893;TSL=1;APPRIS=A1;SIFT=tolerated(0.14);PolyPhen=benign(0.02)
TCGA-EX-A69L-01A-11D-A32I-09	11:113813893-113813893	T	ENSG00000048028	ENST00000538475	Transcript	missense_variant	847	847	283	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=USP28;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12625;TSL=3;SIFT=deleterious(0.04);PolyPhen=benign(0.233)
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000619333	Transcript	missense_variant	895	849	283	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=5;APPRIS=A2;SIFT=tolerated(0.48);PolyPhen=unknown(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1MK-01A-11D-A14W-08	19:581370-581370	G	ENSG00000172270	ENST00000333511	Transcript	stop_gained	918	848	283	S/*	tCa/tGa	COSM4826901,COSM4826902	IMPACT=HIGH;SYMBOL=BSG;BIOTYPE=protein_coding;EXON=6/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1116;TSL=1;APPRIS=P1;SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1430343-1430343	A	ENSG00000071626	ENST00000587079	Transcript	stop_retained_variant	943	849	283	*	taG/taA	rs749590658	IMPACT=LOW;SYMBOL=DAZAP1;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2683;TSL=5;APPRIS=A1;ExAC_MAF=T:8.325e-06;ExAC_Adj_MAF=T:1.026e-05;ExAC_AFR_MAF=T:0.0001227;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A1M7-01A-11D-A13W-08	19:4362616-4362616	G	ENSG00000141985	ENST00000269886	Transcript	missense_variant	1028	849	283	M/I	atG/atC	rs200662405	IMPACT=MODERATE;SYMBOL=SH3GL1;BIOTYPE=protein_coding;EXON=8/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10830;TSL=1;APPRIS=P1;GMAF=A:0.0002;AFR_MAF=A:0.0000;AMR_MAF=A:0.0014;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;AA_MAF=A:0;EA_MAF=A:0.0001;ExAC_MAF=A:1.647e-04;ExAC_Adj_MAF=A:0.0001667;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0.0004355;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0.0002126;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.068e-05
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000439268	Transcript	missense_variant	873	847	283	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=10/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=1;APPRIS=A2;SIFT=tolerated(0.25);PolyPhen=benign(0.02);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-UC-A7PF-01A-11D-A351-09	1:170024468-170024468	T	ENSG00000075945	ENST00000367765	Transcript	missense_variant	2352	850	284	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=KIFAP3;BIOTYPE=protein_coding;EXON=9/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17060;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.996)
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1430343-1430343	A	ENSG00000071626	ENST00000233078	Transcript	stop_retained_variant	1013	852	284	*	taG/taA	rs749590658	IMPACT=LOW;SYMBOL=DAZAP1;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2683;TSL=1;APPRIS=P2;ExAC_MAF=T:8.325e-06;ExAC_Adj_MAF=T:1.026e-05;ExAC_AFR_MAF=T:0.0001227;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1430343-1430343	A	ENSG00000071626	ENST00000336761	Transcript	stop_retained_variant	1057	852	284	*	taG/taA	rs749590658	IMPACT=LOW;SYMBOL=DAZAP1;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2683;TSL=5;ExAC_MAF=T:8.325e-06;ExAC_Adj_MAF=T:1.026e-05;ExAC_AFR_MAF=T:0.0001227;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2RJ-01A-11D-A18J-09	19:1430343-1430343	A	ENSG00000071626	ENST00000592522	Transcript	stop_retained_variant	1013	852	284	*	taG/taA	rs749590658	IMPACT=LOW;SYMBOL=DAZAP1;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2683;TSL=5;APPRIS=A1;ExAC_MAF=T:8.325e-06;ExAC_Adj_MAF=T:1.026e-05;ExAC_AFR_MAF=T:0.0001227;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-UC-A7PF-01A-11D-A351-09	19:6828096-6828096	T	ENSG00000141968	ENST00000596764	Transcript	synonymous_variant	932	852	284	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=9/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=2
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000617201	Transcript	missense_variant	901	855	285	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=5;APPRIS=A2;SIFT=tolerated(0.49);PolyPhen=possibly_damaging(0.607);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000621286	Transcript	missense_variant	855	855	285	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=6/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=5;APPRIS=A2;SIFT=tolerated(0.51);PolyPhen=unknown(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-JW-A5VI-01A-11D-A28B-09	19:42729913-42729913	T	ENSG00000221826	ENST00000327495	Transcript	missense_variant	1038	853	285	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=4/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-JW-A5VI-01A-11D-A28B-09	19:42729913-42729913	T	ENSG00000221826	ENST00000595140	Transcript	missense_variant	946	853	285	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=5;APPRIS=A2
TCGA-JW-A5VI-01A-11D-A28B-09	19:42729913-42729913	T	ENSG00000221826	ENST00000614582	Transcript	missense_variant	853	853	285	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-EK-A2RJ-01A-11D-A18J-09	9:16436817-16436817	A	ENSG00000173068	ENST00000545497	Transcript	synonymous_variant	1350	855	285	H	caC/caT	-	IMPACT=LOW;SYMBOL=BNC2;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30988;TSL=1
TCGA-EX-A69L-01A-11D-A32I-09	11:113813893-113813893	T	ENSG00000048028	ENST00000544967	Transcript	missense_variant	947	859	287	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=USP28;BIOTYPE=protein_coding;EXON=6/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12625;TSL=1;SIFT=deleterious(0.05);PolyPhen=probably_damaging(0.999)
TCGA-RA-A741-01A-11D-A33O-09	21:34799326-34799326	T	ENSG00000159216	ENST00000344691	Transcript	synonymous_variant	2439	861	287	S	tcC/tcA	-	IMPACT=LOW;SYMBOL=RUNX1;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10471;TSL=1;APPRIS=A1
TCGA-C5-A3HE-01A-21D-A22X-09	19:5925689-5925689	T	ENSG00000031823	ENST00000340578	Transcript	missense_variant	920	862	288	P/T	Ccc/Acc	rs777199261	IMPACT=MODERATE;SYMBOL=RANBP3;BIOTYPE=protein_coding;EXON=10/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9850;TSL=1;APPRIS=P4;SIFT=tolerated(0.1);PolyPhen=benign(0.009);ExAC_MAF=A:1.652e-05;ExAC_Adj_MAF=A:1.658e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001211
TCGA-EK-A2R8-01A-21D-A18J-09	2:55544930-55544930	G	ENSG00000163001	ENST00000407816	Transcript	missense_variant	976	864	288	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=CFAP36;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30540;TSL=5;APPRIS=A2
TCGA-EK-A2RC-01A-11D-A18J-09	18:3879204-3879204	A	ENSG00000170579	ENST00000315677	Transcript	missense_variant	1461	865	289	R/W	Cgg/Tgg	COSM4848563,COSM4848564	IMPACT=MODERATE;SYMBOL=DLGAP1;BIOTYPE=protein_coding;EXON=4/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2905;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.983);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RC-01A-11D-A18J-09	18:3879204-3879204	A	ENSG00000170579	ENST00000581527	Transcript	missense_variant	1392	865	289	R/W	Cgg/Tgg	COSM4848563,COSM4848564	IMPACT=MODERATE;SYMBOL=DLGAP1;BIOTYPE=protein_coding;EXON=4/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2905;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.969);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A2LX-01A-11D-A18J-09	19:2226747-2226747	T	ENSG00000104885	ENST00000457590	Transcript	missense_variant	866	866	289	R/M	aGg/aTg	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=4/7;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.957)
TCGA-DG-A2KL-01A-11D-A17W-09	19:3532541-3532541	C	ENSG00000105325	ENST00000313639	Transcript	missense_variant	866	866	289	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1
TCGA-C5-A2M1-01A-11D-A18J-09	1:46512229-46512229	C	ENSG00000197587	ENST00000360032	Transcript	missense_variant	883	869	290	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=DMBX1;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19026;TSL=1;APPRIS=P2
TCGA-EK-A2R8-01A-21D-A18J-09	9:19082873-19082873	A	ENSG00000147874	ENST00000380502	Transcript	splice_region_variant,synonymous_variant	1338	870	290	H	caC/caT	-	IMPACT=LOW;SYMBOL=HAUS6;BIOTYPE=protein_coding;EXON=8/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25948;TSL=1;APPRIS=P2
TCGA-EK-A3GJ-01A-21D-A20U-09	19:501802-501802	C	ENSG00000099866	ENST00000613880	Transcript	missense_variant	919	873	291	K/N	aaG/aaC	rs75905809,COSM4852498	IMPACT=MODERATE;SYMBOL=MADCAM1;BIOTYPE=protein_coding;EXON=6/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6765;TSL=5;APPRIS=A2;SIFT=tolerated(0.48);PolyPhen=unknown(0);ExAC_MAF=C:0.021;ExAC_Adj_MAF=C:0.04131;ExAC_AFR_MAF=C:0.02681;ExAC_AMR_MAF=C:0.06072;ExAC_EAS_MAF=C:0.07368;ExAC_FIN_MAF=C:0.04808;ExAC_NFE_MAF=C:0.05887;ExAC_OTH_MAF=C:0.05417;ExAC_SAS_MAF=C:0.01607;SOMATIC=0,1;PHENO=0,1
TCGA-MU-A5YI-01A-11D-A32I-09	6:116558139-116558139	T	ENSG00000164451	ENST00000368596	Transcript	stop_lost	917	873	291	*/Y	taG/taT	rs753371540	IMPACT=HIGH;SYMBOL=FAM26D;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21094;TSL=5;APPRIS=P1;ExAC_MAF=C:4.118e-05;ExAC_Adj_MAF=C:4.119e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:7.494e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A7UH-01A-11D-A351-09	19:57641166-57641166	T	ENSG00000121417	ENST00000299871	Transcript	missense_variant	1006	875	292	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=P4;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.663)
TCGA-LP-A4AX-01A-12D-A243-09	17:38562885-38562885	A	ENSG00000277363	ENST00000621492	Transcript	missense_variant	1015	878	293	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=SRCIN1;BIOTYPE=protein_coding;EXON=7/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29506;TSL=5;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.974)
TCGA-FU-A3TQ-01A-11D-A22X-09	9:33541216-33541216	C	ENSG00000230453	ENST00000290943	Transcript	missense_variant	974	878	293	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ANKRD18B;BIOTYPE=protein_coding;EXON=7/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23644;TSL=5;APPRIS=P1;SIFT=tolerated(0.3);PolyPhen=unknown(0)
TCGA-C5-A7CL-01A-11D-A32I-09	19:1221966-1221966	T	ENSG00000118046	ENST00000326873	Transcript	missense_variant	1330	880	294	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=7/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.906)
TCGA-C5-A7CL-01A-11D-A32I-09	19:1221966-1221966	T	ENSG00000118046	ENST00000586243	Transcript	missense_variant	1840	880	294	P/S	Ccg/Tcg	-	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=8/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.678)
TCGA-C5-A1BF-01B-11D-A13W-08	19:6713311-6713311	A	ENSG00000125730	ENST00000245907	Transcript	missense_variant	974	881	294	G/V	gGg/gTg	-	IMPACT=MODERATE;SYMBOL=C3;BIOTYPE=protein_coding;EXON=9/41;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1318;TSL=1;APPRIS=P1;SIFT=tolerated(0.27);PolyPhen=benign(0.01)
TCGA-C5-A2M1-01A-11D-A18J-09	1:46512229-46512229	C	ENSG00000197587	ENST00000371956	Transcript	missense_variant	899	884	295	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=DMBX1;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19026;TSL=1;APPRIS=A1
TCGA-C5-A1MH-01A-11D-A14W-08	19:6454376-6454376	G	ENSG00000125648	ENST00000264088	Transcript	missense_variant,NMD_transcript_variant	1006	883	295	D/H	Gat/Cat	-	IMPACT=MODERATE;SYMBOL=SLC25A23;BIOTYPE=nonsense_mediated_decay;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19375;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000229471	Transcript	missense_variant	986	883	295	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=8/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000253122	Transcript	missense_variant	1360	884	295	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000253122	Transcript	missense_variant	1360	884	295	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000253122	Transcript	missense_variant	1360	884	295	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	X:153693147-153693147	A	ENSG00000130821	ENST00000253122	Transcript	missense_variant	1360	884	295	R/H	cGt/cAt	CD122266	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=5/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993);PHENO=1
TCGA-LP-A4AV-01A-11D-A243-09	19:1360804-1360804	A	ENSG00000160953	ENST00000415183	Transcript	missense_variant	912	886	296	G/R	Gga/Aga	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=A2;SIFT=tolerated(0.15);PolyPhen=benign(0.004)
TCGA-LP-A4AV-01A-11D-A243-09	19:1360804-1360804	A	ENSG00000160953	ENST00000591806	Transcript	missense_variant	962	886	296	G/R	Gga/Aga	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=P2;SIFT=tolerated(0.19);PolyPhen=benign(0.002)
TCGA-LP-A4AV-01A-11D-A243-09	19:1360804-1360804	A	ENSG00000160953	ENST00000627377	Transcript	missense_variant	886	886	296	G/R	Gga/Aga	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5;APPRIS=A2;SIFT=tolerated(0.15);PolyPhen=benign(0.004)
TCGA-FU-A3HY-01A-11D-A21Q-09	9:17273770-17273770	C	ENSG00000044459	ENST00000380641	Transcript	missense_variant	913	887	296	G/A	gGt/gCt	COSM3675307,COSM3675308	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=6/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=2;APPRIS=A2;SIFT=tolerated(0.1);PolyPhen=benign(0.108);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A3HY-01A-11D-A21Q-09	9:17273770-17273770	C	ENSG00000044459	ENST00000380647	Transcript	missense_variant	971	887	296	G/A	gGt/gCt	COSM3675307,COSM3675308	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=6/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3;SIFT=deleterious(0.01);PolyPhen=benign(0.068);SOMATIC=1,1;PHENO=1,1
TCGA-Q1-A5R2-01A-11D-A28B-09	18:9522346-9522346	A	ENSG00000017797	ENST00000019317	Transcript	missense_variant	1113	890	297	S/N	aGt/aAt	rs558924426	IMPACT=MODERATE;SYMBOL=RALBP1;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9841;TSL=1;APPRIS=P1;SIFT=tolerated(0.29);PolyPhen=benign(0.002);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;ExAC_MAF=T:3.295e-05;ExAC_Adj_MAF=T:3.295e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0002422
TCGA-Q1-A5R2-01A-11D-A28B-09	18:9522346-9522346	A	ENSG00000017797	ENST00000383432	Transcript	missense_variant	967	890	297	S/N	aGt/aAt	rs558924426	IMPACT=MODERATE;SYMBOL=RALBP1;BIOTYPE=protein_coding;EXON=4/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9841;TSL=1;APPRIS=P1;SIFT=tolerated(0.29);PolyPhen=benign(0.002);GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;ExAC_MAF=T:3.295e-05;ExAC_Adj_MAF=T:3.295e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0002422
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000332432	Transcript	missense_variant	1100	900	300	Q/H	caG/caC	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=5;APPRIS=P1;ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000332432	Transcript	missense_variant	1100	900	300	Q/H	caG/caC	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=5;APPRIS=P1;ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000332432	Transcript	missense_variant	1100	900	300	Q/H	caG/caC	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=5;APPRIS=P1;ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1BF-01B-11D-A13W-08	5:16067780-16067780	G	ENSG00000183654	ENST00000332432	Transcript	missense_variant	1100	900	300	Q/H	caG/caC	rs762342986,COSM1065260	IMPACT=MODERATE;SYMBOL=MARCH11;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33609;TSL=5;APPRIS=P1;ExAC_MAF=G:2.484e-05;ExAC_Adj_MAF=G:2.59e-05;ExAC_AFR_MAF=G:0.0001072;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.12e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000262227	Transcript	missense_variant	4120	909	303	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=8/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=A2
TCGA-IR-A3LI-01A-11D-A20U-09	6:4069315-4069315	A	ENSG00000145975	ENST00000274673	Transcript	missense_variant	1312	908	303	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=FAM217A;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21362;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-C5-A2LZ-01A-11D-A20U-09	12:21467488-21467488	T	ENSG00000121350	ENST00000538582	Transcript	missense_variant	1664	911	304	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=PYROXD1;BIOTYPE=protein_coding;EXON=11/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26162;TSL=2
TCGA-JW-A5VI-01A-11D-A28B-09	19:3653299-3653299	A	ENSG00000186111	ENST00000335312	Transcript	synonymous_variant	1001	912	304	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=7/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=P3
TCGA-JW-A5VI-01A-11D-A28B-09	19:3653299-3653299	A	ENSG00000186111	ENST00000537021	Transcript	synonymous_variant	912	912	304	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=7/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=A2
TCGA-JW-A5VI-01A-11D-A28B-09	19:3653299-3653299	A	ENSG00000186111	ENST00000539785	Transcript	synonymous_variant	987	912	304	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=7/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=2;APPRIS=A2
TCGA-JW-A5VI-01A-11D-A28B-09	19:3653299-3653299	A	ENSG00000186111	ENST00000589578	Transcript	synonymous_variant	912	912	304	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=PIP5K1C;BIOTYPE=protein_coding;EXON=7/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8996;TSL=1;APPRIS=A2
TCGA-EK-A2R7-01A-11D-A18J-09	9:33922757-33922757	C	ENSG00000137073	ENST00000379239	Transcript	missense_variant	1536	911	304	P/R	cCa/cGa	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=12/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=2;SIFT=deleterious(0);PolyPhen=unknown(0)
TCGA-C5-A3HD-01B-11D-A20U-09	19:7083388-7083388	T	ENSG00000130544	ENST00000414706	Transcript	missense_variant	1156	916	306	L/F	Ctt/Ttt	rs752387515	IMPACT=MODERATE;SYMBOL=ZNF557;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28632;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=benign(0.227);ExAC_MAF=G:8.244e-06;ExAC_Adj_MAF=G:8.276e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:8.64e-05;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-FU-A2QG-01A-11D-A18J-09	19:1233483-1233483	C	ENSG00000099625	ENST00000590083	Transcript	missense_variant	1215	922	308	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=CBARP;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28617;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.547)
TCGA-C5-A1MH-01A-11D-A14W-08	19:39408622-39408622	T	ENSG00000128016	ENST00000597629	Transcript	stop_gained	996	922	308	R/*	Cga/Tga	rs781407248	IMPACT=HIGH;SYMBOL=ZFP36;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12862;TSL=1;APPRIS=P2;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.707e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.561e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1MH-01A-11D-A14W-08	19:39408622-39408622	T	ENSG00000128016	ENST00000597629	Transcript	stop_gained	996	922	308	R/*	Cga/Tga	rs781407248	IMPACT=HIGH;SYMBOL=ZFP36;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12862;TSL=1;APPRIS=P2;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.707e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.561e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2PM-01A-11D-A18J-09	18:14105614-14105614	A	ENSG00000175322	ENST00000590202	Transcript	missense_variant	1079	926	309	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=ZNF519;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30574;TSL=1;APPRIS=P1;SIFT=tolerated(0.12);PolyPhen=benign(0.028)
TCGA-IR-A3LL-01A-11D-A20U-09	19:3162819-3162819	C	ENSG00000060558	ENST00000262958	Transcript	missense_variant	1183	925	309	E/Q	Gag/Cag	rs746406189	IMPACT=MODERATE;SYMBOL=GNA15;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4383;TSL=1;APPRIS=P1;SIFT=tolerated(0.31);PolyPhen=possibly_damaging(0.809);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.337e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.519e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-DS-A0VN-01A-21D-A10S-08	18:8784515-8784515	C	ENSG00000168502	ENST00000520495	Transcript	missense_variant,NMD_transcript_variant	1616	929	310	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MTCL1;BIOTYPE=nonsense_mediated_decay;EXON=2/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29121;TSL=2;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.769)
TCGA-C5-A2M2-01A-21D-A18J-09	18:12463427-12463427	A	ENSG00000134278	ENST00000309836	Transcript	missense_variant	1034	929	310	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=SPIRE1;BIOTYPE=protein_coding;EXON=10/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30622;TSL=2;SIFT=tolerated(0.12);PolyPhen=probably_damaging(0.998)
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000539846	Transcript	missense_variant	1174	932	311	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=2
TCGA-C5-A3HL-01A-11D-A20U-09	5:79032785-79032785	A	ENSG00000132837	ENST00000523732	Transcript	synonymous_variant	936	936	312	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=DMGDH;BIOTYPE=protein_coding;EXON=6/12;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24475;TSL=1
TCGA-LP-A4AV-01A-11D-A243-09	9:117186-117186	A	ENSG00000170122	ENST00000382500	Transcript	missense_variant	1019	934	312	R/C	Cgc/Tgc	COSM4825003,COSM4825004	IMPACT=MODERATE;SYMBOL=FOXD4;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3805;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=benign(0.446);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A3HD-01B-11D-A20U-09	19:7083388-7083388	T	ENSG00000130544	ENST00000252840	Transcript	missense_variant	1438	937	313	L/F	Ctt/Ttt	rs752387515	IMPACT=MODERATE;SYMBOL=ZNF557;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28632;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.702);ExAC_MAF=G:8.244e-06;ExAC_Adj_MAF=G:8.276e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:8.64e-05;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-JW-A5VG-01A-11D-A28B-09	5:5186227-5186227	T	ENSG00000145536	ENST00000274181	Transcript	synonymous_variant	1077	939	313	T	acC/acT	rs375228223	IMPACT=LOW;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=5/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=2;APPRIS=P1;AA_MAF=T:0.0002;EA_MAF=T:0.0001;ExAC_MAF=T:3.306e-05;ExAC_Adj_MAF=T:3.328e-05;ExAC_AFR_MAF=T:0.0002049;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:3.008e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-JW-A5VG-01A-11D-A28B-09	5:5186227-5186227	T	ENSG00000145536	ENST00000511368	Transcript	synonymous_variant	1077	939	313	T	acC/acT	rs375228223	IMPACT=LOW;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=5/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=1;AA_MAF=T:0.0002;EA_MAF=T:0.0001;ExAC_MAF=T:3.306e-05;ExAC_Adj_MAF=T:3.328e-05;ExAC_AFR_MAF=T:0.0002049;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:3.008e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A7CO-01A-11D-A351-09	19:52034738-52034738	T	ENSG00000256087	ENST00000221315	Transcript	missense_variant	1259	941	314	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=ZNF432;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20810;TSL=1;APPRIS=P1
TCGA-C5-A7CO-01A-11D-A351-09	19:52034738-52034738	T	ENSG00000256087	ENST00000594154	Transcript	missense_variant	1154	941	314	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=ZNF432;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20810;TSL=1;APPRIS=P1
TCGA-RA-A741-01A-11D-A33O-09	21:34799326-34799326	T	ENSG00000159216	ENST00000300305	Transcript	synonymous_variant	1387	942	314	S	tcC/tcA	-	IMPACT=LOW;SYMBOL=RUNX1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10471;TSL=1;APPRIS=P3
TCGA-RA-A741-01A-11D-A33O-09	21:34799326-34799326	T	ENSG00000159216	ENST00000437180	Transcript	synonymous_variant	1132	942	314	S	tcC/tcA	-	IMPACT=LOW;SYMBOL=RUNX1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10471;TSL=5;APPRIS=P3
TCGA-C5-A7X3-01A-11D-A351-09	19:1223012-1223012	A	ENSG00000118046	ENST00000326873	Transcript	synonymous_variant	1398	948	316	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=8/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2
TCGA-C5-A7X3-01A-11D-A351-09	19:1223012-1223012	A	ENSG00000118046	ENST00000586243	Transcript	synonymous_variant	1908	948	316	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2
TCGA-UC-A7PF-01A-11D-A351-09	19:6828096-6828096	T	ENSG00000141968	ENST00000304076	Transcript	synonymous_variant	1042	948	316	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=10/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1
TCGA-UC-A7PF-01A-11D-A351-09	19:6828096-6828096	T	ENSG00000141968	ENST00000602142	Transcript	synonymous_variant	1030	948	316	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=VAV1;BIOTYPE=protein_coding;EXON=10/27;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12657;TSL=1;APPRIS=P1
TCGA-FU-A40J-01A-11D-A243-09	19:37413710-37413710	G	ENSG00000196437	ENST00000316950	Transcript	missense_variant	1506	948	316	Q/H	caA/caC	-	IMPACT=MODERATE;SYMBOL=ZNF569;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24737;TSL=1;APPRIS=P1
TCGA-FU-A40J-01A-11D-A243-09	19:37413710-37413710	G	ENSG00000196437	ENST00000392149	Transcript	missense_variant	1134	948	316	Q/H	caA/caC	-	IMPACT=MODERATE;SYMBOL=ZNF569;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24737;TSL=1;APPRIS=P1
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000418258	Transcript	missense_variant	1462	947	316	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.745)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000421141	Transcript	missense_variant	1306	947	316	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.745)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000429896	Transcript	missense_variant	1388	947	316	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.745)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000254182	Transcript	missense_variant	1143	950	317	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=tolerated(1);PolyPhen=benign(0.11)
TCGA-EK-A2R8-01A-21D-A18J-09	2:55544930-55544930	G	ENSG00000163001	ENST00000349456	Transcript	missense_variant	1099	951	317	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=CFAP36;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30540;TSL=1;APPRIS=P2
TCGA-C5-A1BM-01A-11D-A13W-08	5:1216712-1216712	G	ENSG00000174358	ENST00000515652	Transcript	missense_variant,NMD_transcript_variant	1006	950	317	A/G	gCg/gGg	rs750098644	IMPACT=MODERATE;SYMBOL=SLC6A19;BIOTYPE=nonsense_mediated_decay;EXON=7/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27960;TSL=2;PolyPhen=unknown(0);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.273e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.509e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EX-A449-01A-11D-A243-09	19:5788165-5788165	T	ENSG00000141994	ENST00000309061	Transcript	synonymous_variant	1051	954	318	L	ctG/ctA	rs148148687	IMPACT=LOW;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=5/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=P3;GMAF=G:0.0058;AFR_MAF=G:0.0219;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000;AA_MAF=G:0.0098;EA_MAF=G:0.0001;ExAC_MAF=G:1.128e-03;ExAC_Adj_MAF=G:0.001133;ExAC_AFR_MAF=G:0.01301;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:3.04e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.058e-05
TCGA-EK-A3GJ-01A-21D-A20U-09	6:47681717-47681717	T	ENSG00000164393	ENST00000398742	Transcript	synonymous_variant	1003	954	318	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=A2
TCGA-EK-A3GJ-01A-21D-A20U-09	6:47681717-47681717	T	ENSG00000164393	ENST00000467205	Transcript	synonymous_variant,NMD_transcript_variant	1230	954	318	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=nonsense_mediated_decay;EXON=7/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1
TCGA-EK-A3GJ-01A-21D-A20U-09	6:47681717-47681717	T	ENSG00000164393	ENST00000507065	Transcript	synonymous_variant	1232	954	318	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=5;APPRIS=A2
TCGA-LP-A4AX-01A-12D-A243-09	17:38562885-38562885	A	ENSG00000277363	ENST00000612431	Transcript	missense_variant	966	956	319	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=SRCIN1;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29506;TSL=1;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.998)
TCGA-EX-A69L-01A-11D-A32I-09	17:40133891-40133891	T	ENSG00000188895	ENST00000579565	Transcript	synonymous_variant	1221	957	319	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=MSL1;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27905;TSL=1;APPRIS=P1
TCGA-C5-A1MH-01A-11D-A14W-08	19:39408622-39408622	T	ENSG00000128016	ENST00000594442	Transcript	stop_gained	953	955	319	R/*	Cga/Tga	rs781407248	IMPACT=HIGH;SYMBOL=ZFP36;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12862;TSL=5;APPRIS=A2;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.707e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.561e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A1MH-01A-11D-A14W-08	19:39408622-39408622	T	ENSG00000128016	ENST00000594442	Transcript	stop_gained	953	955	319	R/*	Cga/Tga	rs781407248	IMPACT=HIGH;SYMBOL=ZFP36;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12862;TSL=5;APPRIS=A2;ExAC_MAF=A:8.239e-06;ExAC_Adj_MAF=A:8.707e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.561e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000391703	Transcript	stop_gained	1096	955	319	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2
TCGA-LP-A7HU-01A-11D-A33O-09	10:75399732-75399732	A	ENSG00000165655	ENST00000372524	Transcript	missense_variant	1445	958	320	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=ZNF503;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23589;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.023)
TCGA-EK-A2RB-01A-11D-A18J-09	11:563402-563402	G	ENSG00000099849	ENST00000397583	Transcript	missense_variant	1391	958	320	L/V	Ctg/Gtg	COSM4820037	IMPACT=MODERATE;SYMBOL=RASSF7;BIOTYPE=protein_coding;EXON=5/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1166;TSL=1;APPRIS=P3;SIFT=tolerated(0.16);PolyPhen=benign(0.039);SOMATIC=1;PHENO=1
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000296742	Transcript	missense_variant	1680	959	320	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=4/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.894)
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000318504	Transcript	missense_variant	1016	968	323	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=13/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=5;APPRIS=A2
TCGA-UC-A7PF-01A-11D-A351-09	1:170024468-170024468	T	ENSG00000075945	ENST00000361580	Transcript	missense_variant	1198	970	324	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=KIFAP3;BIOTYPE=protein_coding;EXON=9/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17060;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.996)
TCGA-RA-A741-01A-11D-A33O-09	11:123600469-123600469	T	ENSG00000023171	ENST00000635736	Transcript	missense_variant,splice_region_variant	1070	971	324	R/L	cGc/cTc	-	IMPACT=MODERATE;SYMBOL=GRAMD1B;BIOTYPE=protein_coding;EXON=8/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29214;APPRIS=A1;PolyPhen=benign(0.311)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000347302	Transcript	missense_variant	1156	977	326	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=tolerated(0.76);PolyPhen=benign(0.03)
TCGA-WL-A834-01A-11D-A351-09	5:33457395-33457395	G	ENSG00000113407	ENST00000265112	Transcript	missense_variant	1287	976	326	I/V	Att/Gtt	-	IMPACT=MODERATE;SYMBOL=TARS;BIOTYPE=protein_coding;EXON=9/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11572;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.088)
TCGA-WL-A834-01A-11D-A351-09	5:33457395-33457395	G	ENSG00000113407	ENST00000502553	Transcript	missense_variant	1113	976	326	I/V	Att/Gtt	-	IMPACT=MODERATE;SYMBOL=TARS;BIOTYPE=protein_coding;EXON=10/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11572;TSL=2;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=benign(0.088)
TCGA-EK-A2R8-01A-21D-A18J-09	19:3162874-3162874	A	ENSG00000060558	ENST00000262958	Transcript	missense_variant	1238	980	327	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=GNA15;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4383;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.001)
TCGA-UC-A7PF-01A-11D-A351-09	19:3779086-3779086	G	ENSG00000007264	ENST00000395040	Transcript	missense_variant	1276	980	327	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=MATK;BIOTYPE=protein_coding;EXON=11/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6906;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EK-A2RN-01A-12D-A20U-09	9:35043829-35043829	C	ENSG00000174038	ENST00000354479	Transcript	missense_variant	1031	981	327	R/S	agG/agC	-	IMPACT=MODERATE;SYMBOL=C9orf131;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31418;TSL=2;APPRIS=A2;SIFT=tolerated(0.11);PolyPhen=benign(0)
TCGA-EA-A43B-01A-81D-A243-09	1:11126779-11126779	G	ENSG00000198793	ENST00000376838	Transcript	synonymous_variant	1786	984	328	L	ctG/ctC	-	IMPACT=LOW;SYMBOL=MTOR;BIOTYPE=protein_coding;EXON=8/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3942;TSL=2
TCGA-FU-A2QG-01A-11D-A18J-09	19:1233483-1233483	C	ENSG00000099625	ENST00000382477	Transcript	missense_variant	1257	982	328	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=CBARP;BIOTYPE=protein_coding;EXON=8/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28617;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.956)
TCGA-C5-A1ME-01A-11D-A13W-08	3:50293634-50293634	A	ENSG00000186792	ENST00000336307	Transcript	stop_gained,splice_region_variant	1255	982	328	Q/*	Cag/Tag	COSM419931	IMPACT=HIGH;SYMBOL=HYAL3;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5322;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A1ME-01A-11D-A13W-08	3:50293634-50293634	A	ENSG00000186792	ENST00000621157	Transcript	stop_gained,splice_region_variant	1010	982	328	Q/*	Cag/Tag	COSM419931	IMPACT=HIGH;SYMBOL=HYAL3;BIOTYPE=protein_coding;EXON=3/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5322;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-IR-A3LI-01A-11D-A20U-09	6:28366095-28366095	T	ENSG00000189298	ENST00000341464	Transcript	missense_variant	1143	983	328	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZKSCAN3;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13853;TSL=2;SIFT=tolerated(0.16);PolyPhen=benign(0.04)
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000407202	Transcript	missense_variant	987	989	330	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=tolerated(1);PolyPhen=benign(0.068)
TCGA-C5-A2LZ-01A-11D-A20U-09	5:39382903-39382903	G	ENSG00000153071	ENST00000509337	Transcript	missense_variant	1073	993	331	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=8/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=1
TCGA-C5-A2LZ-01A-11D-A20U-09	5:39382903-39382903	G	ENSG00000153071	ENST00000545653	Transcript	missense_variant	1524	993	331	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=9/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=5
TCGA-LP-A7HU-01A-11D-A33O-09	6:12120788-12120788	C	ENSG00000095951	ENST00000379388	Transcript	synonymous_variant	1325	993	331	T	acG/acC	rs751238410	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=1;APPRIS=P2;ExAC_MAF=G:8.269e-06;ExAC_Adj_MAF=G:8.281e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.498e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-LP-A7HU-01A-11D-A33O-09	6:12120788-12120788	C	ENSG00000095951	ENST00000541134	Transcript	synonymous_variant	1325	993	331	T	acG/acC	rs751238410	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=5;APPRIS=A2;ExAC_MAF=G:8.269e-06;ExAC_Adj_MAF=G:8.281e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.498e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-IR-A3LI-01A-11D-A20U-09	19:7528832-7528832	T	ENSG00000090674	ENST00000264079	Transcript	synonymous_variant	1121	996	332	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=MCOLN1;BIOTYPE=protein_coding;EXON=9/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13356;TSL=1;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	19:7528832-7528832	T	ENSG00000090674	ENST00000264079	Transcript	synonymous_variant	1121	996	332	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=MCOLN1;BIOTYPE=protein_coding;EXON=9/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13356;TSL=1;APPRIS=P1
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000418258	Transcript	missense_variant	1515	1000	334	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000421141	Transcript	missense_variant	1359	1000	334	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000429896	Transcript	missense_variant	1441	1000	334	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974)
TCGA-EK-A2R8-01A-21D-A18J-09	5:39382892-39382892	C	ENSG00000153071	ENST00000509337	Transcript	missense_variant	1084	1004	335	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=8/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=1;SIFT=tolerated(0.33);PolyPhen=probably_damaging(0.987)
TCGA-EK-A2R8-01A-21D-A18J-09	5:39382892-39382892	C	ENSG00000153071	ENST00000545653	Transcript	missense_variant	1535	1004	335	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=9/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=5;SIFT=tolerated(0.33);PolyPhen=probably_damaging(0.987)
TCGA-MU-A51Y-01A-11D-A26G-09	19:362260-362260	G	ENSG00000105549	ENST00000346878	Transcript	missense_variant	1008	1008	336	M/I	atG/atC	rs867236298,COSM177951	IMPACT=MODERATE;SYMBOL=THEG;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13706;TSL=2;APPRIS=A2;SIFT=tolerated(0.13);PolyPhen=benign(0.1);SOMATIC=0,1;PHENO=0,1
TCGA-C5-A7UE-01A-11D-A33O-09	3:184059910-184059910	G	ENSG00000178084	ENST00000318351	Transcript	synonymous_variant	1042	1008	336	A	gcC/gcG	-	IMPACT=LOW;SYMBOL=HTR3C;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24003;TSL=1;APPRIS=P1
TCGA-FU-A3HY-01A-11D-A21Q-09	9:26995626-26995626	T	ENSG00000184434	ENST00000380055	Transcript	synonymous_variant	1119	1008	336	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=LRRC19;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23379;TSL=1;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	9:39176011-39176011	A	ENSG00000106714	ENST00000297668	Transcript	missense_variant	1083	1009	337	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=7/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=1;APPRIS=P1
TCGA-C5-A1MK-01A-11D-A14W-08	9:39176011-39176011	A	ENSG00000106714	ENST00000377656	Transcript	missense_variant	1248	1009	337	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=7/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=1
TCGA-C5-A1MK-01A-11D-A14W-08	9:39176011-39176011	A	ENSG00000106714	ENST00000377659	Transcript	missense_variant	1248	1009	337	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=7/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=2
TCGA-C5-A1MK-01A-11D-A14W-08	9:39176011-39176011	A	ENSG00000106714	ENST00000443583	Transcript	missense_variant,NMD_transcript_variant	1260	1009	337	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=nonsense_mediated_decay;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=5
TCGA-Q1-A5R2-01A-11D-A28B-09	18:2937846-2937846	T	ENSG00000101577	ENST00000261596	Transcript	synonymous_variant	1253	1014	338	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=7/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=1;APPRIS=P1
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000240731	Transcript	missense_variant	1135	1016	339	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;APPRIS=A2;SIFT=tolerated(0.98);PolyPhen=benign(0.025)
TCGA-C5-A1BM-01A-11D-A13W-08	4:48492817-48492817	T	ENSG00000182223	ENST00000327939	Transcript	missense_variant	1055	1015	339	R/W	Cgg/Tgg	-	IMPACT=MODERATE;SYMBOL=ZAR1;BIOTYPE=protein_coding;EXON=2/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20436;TSL=1;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	5:24509805-24509805	T	ENSG00000040731	ENST00000264463	Transcript	synonymous_variant	1525	1017	339	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CDH10;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1749;TSL=1;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	5:24509805-24509805	T	ENSG00000040731	ENST00000510477	Transcript	synonymous_variant,NMD_transcript_variant	1327	1017	339	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CDH10;BIOTYPE=nonsense_mediated_decay;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1749;TSL=1
TCGA-C5-A1ME-01A-11D-A13W-08	1:153941905-153941905	A	ENSG00000198837	ENST00000361217	Transcript	missense_variant	1438	1019	340	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=DENND4B;BIOTYPE=protein_coding;EXON=6/28;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29044;TSL=1;APPRIS=P2;SIFT=tolerated(0.06);PolyPhen=benign(0.176)
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000391703	Transcript	missense_variant	1160	1019	340	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-C5-A3HE-01A-21D-A22X-09	17:40820270-40820270	T	ENSG00000186395	ENST00000269576	Transcript	missense_variant	1031	1021	341	D/N	Gat/Aat	rs776041016	IMPACT=MODERATE;SYMBOL=KRT10;BIOTYPE=protein_coding;EXON=4/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6413;TSL=1;APPRIS=P1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.241e-06;ExAC_AFR_MAF=A:9.662e-05;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2R8-01A-21D-A18J-09	2:55544930-55544930	G	ENSG00000163001	ENST00000339012	Transcript	missense_variant	1224	1026	342	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=CFAP36;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30540;TSL=1
TCGA-EA-A6QX-01A-12D-A33O-09	22:50277648-50277648	T	ENSG00000196576	ENST00000614805	Transcript	missense_variant	1374	1028	343	P/Q	cCg/cAg	rs542258038	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=16/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;GMAF=C:0.0004;AFR_MAF=C:0.0000;AMR_MAF=C:0.0000;EAS_MAF=C:0.0000;EUR_MAF=C:0.0000;SAS_MAF=C:0.0020;ExAC_MAF=C:2.228e-04;ExAC_Adj_MAF=C:0.0002334;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0.001877
TCGA-FU-A40J-01A-11D-A243-09	9:745203-745203	G	ENSG00000107104	ENST00000382289	Transcript	missense_variant	1027	1027	343	P/A	Cct/Gct	COSM3358362,COSM3358363,COSM4843909,COSM4843910	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.999);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-Q1-A5R1-01A-11D-A28B-09	18:742944-742944	G	ENSG00000176105	ENST00000314574	Transcript	missense_variant	1167	1034	345	Y/S	tAc/tCc	rs750080195,COSM4818697	IMPACT=MODERATE;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=8/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.944);ExAC_MAF=C:8.237e-06;ExAC_Adj_MAF=C:8.633e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0.0001515;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A5R1-01A-11D-A28B-09	18:742944-742944	G	ENSG00000176105	ENST00000584307	Transcript	missense_variant	1205	1034	345	Y/S	tAc/tCc	rs750080195,COSM4818697	IMPACT=MODERATE;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=8/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.944);ExAC_MAF=C:8.237e-06;ExAC_Adj_MAF=C:8.633e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0.0001515;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000375290	Transcript	missense_variant,NMD_transcript_variant	1037	1037	346	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=nonsense_mediated_decay;EXON=7/21;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.382)
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000368678	Transcript	missense_variant	1554	1039	347	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=10/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=5;APPRIS=A1
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000368682	Transcript	missense_variant	1261	1039	347	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=11/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=5;APPRIS=A1
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000538466	Transcript	missense_variant	1050	1039	347	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=8/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=1;APPRIS=A1
TCGA-C5-A2M2-01A-21D-A18J-09	18:12463427-12463427	A	ENSG00000134278	ENST00000440472	Transcript	missense_variant,NMD_transcript_variant	1244	1043	348	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=SPIRE1;BIOTYPE=nonsense_mediated_decay;EXON=12/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30622;TSL=1;SIFT=tolerated(0.14);PolyPhen=probably_damaging(0.999)
TCGA-FU-A770-01A-11D-A33O-09	3:49701900-49701900	A	ENSG00000164068	ENST00000432042	Transcript	synonymous_variant	1307	1047	349	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=RNF123;BIOTYPE=protein_coding;EXON=14/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21148;TSL=1
TCGA-EX-A1H5-01A-31D-A13W-08	9:35752745-35752745	A	ENSG00000107185	ENST00000378078	Transcript	synonymous_variant	1188	1047	349	T	acG/acA	-	IMPACT=LOW;SYMBOL=RGP1;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21965;TSL=1;APPRIS=P1
TCGA-EX-A1H5-01A-31D-A13W-08	9:35752745-35752745	A	ENSG00000107185	ENST00000378078	Transcript	synonymous_variant	1188	1047	349	T	acG/acA	-	IMPACT=LOW;SYMBOL=RGP1;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21965;TSL=1;APPRIS=P1
TCGA-EX-A1H5-01A-31D-A13W-08	9:35752745-35752745	A	ENSG00000107185	ENST00000378078	Transcript	synonymous_variant	1188	1047	349	T	acG/acA	-	IMPACT=LOW;SYMBOL=RGP1;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21965;TSL=1;APPRIS=P1
TCGA-EX-A1H5-01A-31D-A13W-08	9:35752745-35752745	A	ENSG00000107185	ENST00000378078	Transcript	synonymous_variant	1188	1047	349	T	acG/acA	-	IMPACT=LOW;SYMBOL=RGP1;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21965;TSL=1;APPRIS=P1
TCGA-Q1-A5R1-01A-11D-A28B-09	18:742944-742944	G	ENSG00000176105	ENST00000577961	Transcript	missense_variant	1120	1049	350	Y/S	tAc/tCc	rs750080195,COSM4818697	IMPACT=MODERATE;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=8/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.907);ExAC_MAF=C:8.237e-06;ExAC_Adj_MAF=C:8.633e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0.0001515;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000354650	Transcript	missense_variant	1655	1048	350	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=11/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=1;APPRIS=P4
TCGA-EA-A3Y4-01A-51D-A243-09	6:111694699-111694699	G	ENSG00000010810	ENST00000368667	Transcript	missense_variant	1393	1048	350	V/L	Gta/Cta	-	IMPACT=MODERATE;SYMBOL=FYN;BIOTYPE=protein_coding;EXON=10/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4037;TSL=2;APPRIS=P4
TCGA-C5-A1ME-01A-11D-A13W-08	1:153941905-153941905	A	ENSG00000198837	ENST00000368646	Transcript	missense_variant	1177	1052	351	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=DENND4B;BIOTYPE=protein_coding;EXON=6/22;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29044;TSL=5;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.45)
TCGA-LP-A5U2-01A-11D-A28B-09	11:280785-280785	T	ENSG00000174885	ENST00000312165	Transcript	missense_variant	1051	1051	351	D/Y	Gac/Tac	rs757568239,COSM4833811	IMPACT=MODERATE;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=1;APPRIS=P3;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.93);ExAC_MAF=C:8.244e-06;ExAC_Adj_MAF=C:8.697e-06;ExAC_AFR_MAF=C:0.0001076;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-LP-A5U2-01A-11D-A28B-09	11:280785-280785	T	ENSG00000174885	ENST00000534750	Transcript	missense_variant	1256	1051	351	D/Y	Gac/Tac	rs757568239,COSM4833811	IMPACT=MODERATE;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.844);ExAC_MAF=C:8.244e-06;ExAC_Adj_MAF=C:8.697e-06;ExAC_AFR_MAF=C:0.0001076;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A2LZ-01A-11D-A20U-09	5:39382903-39382903	G	ENSG00000153071	ENST00000320816	Transcript	missense_variant	1524	1056	352	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=10/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=1;APPRIS=P1
TCGA-EK-A2RN-01A-12D-A20U-09	9:35043829-35043829	C	ENSG00000174038	ENST00000421362	Transcript	missense_variant	1106	1056	352	R/S	agG/agC	-	IMPACT=MODERATE;SYMBOL=C9orf131;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31418;TSL=4;APPRIS=A2;SIFT=tolerated(0.11);PolyPhen=benign(0.062)
TCGA-C5-A7CO-01A-11D-A351-09	5:40691969-40691969	T	ENSG00000171522	ENST00000302472	Transcript	missense_variant	2082	1058	353	A/V	gCg/gTg	-	IMPACT=MODERATE;SYMBOL=PTGER4;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9596;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.097)
TCGA-FU-A3NI-01A-11D-A21Q-09	X:153694354-153694354	A	ENSG00000130821	ENST00000430077	Transcript	missense_variant	1274	1058	353	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=2
TCGA-EK-A2RA-01A-11D-A18J-09	9:3275524-3275524	G	ENSG00000080298	ENST00000302303	Transcript	missense_variant	1309	1062	354	Q/H	caG/caC	rs766546773,COSM4848259,COSM4848260	IMPACT=MODERATE;SYMBOL=RFX3;BIOTYPE=protein_coding;EXON=10/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9984;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.271e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.504e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RA-01A-11D-A18J-09	9:3275524-3275524	G	ENSG00000080298	ENST00000358730	Transcript	missense_variant	1070	1062	354	Q/H	caG/caC	rs766546773,COSM4848259,COSM4848260	IMPACT=MODERATE;SYMBOL=RFX3;BIOTYPE=protein_coding;EXON=8/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9984;TSL=1;SIFT=deleterious(0);PolyPhen=benign(0.049);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.271e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.504e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RA-01A-11D-A18J-09	9:3275524-3275524	G	ENSG00000080298	ENST00000382004	Transcript	missense_variant	1374	1062	354	Q/H	caG/caC	rs766546773,COSM4848259,COSM4848260	IMPACT=MODERATE;SYMBOL=RFX3;BIOTYPE=protein_coding;EXON=10/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9984;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.035);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.271e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.504e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RA-01A-11D-A18J-09	9:3275524-3275524	G	ENSG00000080298	ENST00000617270	Transcript	missense_variant	1325	1062	354	Q/H	caG/caC	rs766546773,COSM4848259,COSM4848260	IMPACT=MODERATE;SYMBOL=RFX3;BIOTYPE=protein_coding;EXON=9/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9984;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.035);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.271e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.504e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-Q1-A5R2-01A-11D-A28B-09	9:33922521-33922521	A	ENSG00000137073	ENST00000379239	Transcript	missense_variant	1685	1060	354	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=2;SIFT=tolerated(0.21);PolyPhen=unknown(0)
TCGA-C5-A2LX-01A-11D-A18J-09	9:34263154-34263154	G	ENSG00000186638	ENST00000379174	Transcript	missense_variant	1085	1060	354	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=KIF24;BIOTYPE=protein_coding;EXON=5/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19916;TSL=5;SIFT=deleterious(0);PolyPhen=benign(0.186)
TCGA-Q1-A73P-01A-11D-A32I-09	18:6873519-6873519	C	ENSG00000088756	ENST00000383472	Transcript	missense_variant	1169	1065	355	L/F	ttG/ttC	-	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=8/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=5;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	5:39382892-39382892	C	ENSG00000153071	ENST00000320816	Transcript	missense_variant	1535	1067	356	T/R	aCa/aGa	-	IMPACT=MODERATE;SYMBOL=DAB2;BIOTYPE=protein_coding;EXON=10/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2662;TSL=1;APPRIS=P1;SIFT=tolerated(0.34);PolyPhen=probably_damaging(0.98)
TCGA-C5-A7X3-01A-11D-A351-09	19:1223135-1223135	A	ENSG00000118046	ENST00000326873	Transcript	synonymous_variant	1521	1071	357	E	gaG/gaA	rs556651007	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=8/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2;GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;ExAC_MAF=T:1.410e-04;ExAC_Adj_MAF=T:0.0001666;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.001213
TCGA-C5-A7X3-01A-11D-A351-09	19:1223135-1223135	A	ENSG00000118046	ENST00000586243	Transcript	synonymous_variant	2031	1071	357	E	gaG/gaA	rs556651007	IMPACT=LOW;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2;GMAF=T:0.0002;AFR_MAF=T:0.0000;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0010;ExAC_MAF=T:1.410e-04;ExAC_Adj_MAF=T:0.0001666;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.001213
TCGA-EK-A2R9-01A-11D-A18J-09	18:346550-346550	A	ENSG00000158270	ENST00000400256	Transcript	missense_variant	1280	1072	358	R/W	Cgg/Tgg	rs765714248,COSM4822988	IMPACT=MODERATE;SYMBOL=COLEC12;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16016;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.898);ExAC_MAF=A:7.413e-05;ExAC_Adj_MAF=A:7.414e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0.0003456;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:2.997e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001817;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A7X3-01A-11D-A351-09	19:1223138-1223138	T	ENSG00000118046	ENST00000326873	Transcript	missense_variant	1524	1074	358	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=8/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=1;APPRIS=P2
TCGA-C5-A7X3-01A-11D-A351-09	19:1223138-1223138	T	ENSG00000118046	ENST00000586243	Transcript	missense_variant	2034	1074	358	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=STK11;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11389;TSL=5;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	19:6426429-6426429	T	ENSG00000181240	ENST00000321510	Transcript	missense_variant	1142	1073	358	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=SLC25A41;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=5;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	19:6426429-6426429	T	ENSG00000181240	ENST00000597558	Transcript	missense_variant,NMD_transcript_variant	1159	1073	358	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=SLC25A41;BIOTYPE=nonsense_mediated_decay;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=1
TCGA-EX-A1H6-01B-11D-A22X-09	19:40376662-40376662	C	ENSG00000105223	ENST00000356508	Transcript	missense_variant	1196	1073	358	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=PLD3;BIOTYPE=protein_coding;EXON=11/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17158;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.69)
TCGA-EX-A1H6-01B-11D-A22X-09	19:40376662-40376662	C	ENSG00000105223	ENST00000409281	Transcript	missense_variant	1405	1073	358	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=PLD3;BIOTYPE=protein_coding;EXON=11/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17158;TSL=2;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.69)
TCGA-EX-A1H6-01B-11D-A22X-09	19:40376662-40376662	C	ENSG00000105223	ENST00000409419	Transcript	missense_variant	1264	1073	358	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=PLD3;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17158;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.69)
TCGA-EX-A1H6-01B-11D-A22X-09	19:40376662-40376662	C	ENSG00000105223	ENST00000409587	Transcript	missense_variant	1470	1073	358	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=PLD3;BIOTYPE=protein_coding;EXON=11/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17158;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.69)
TCGA-EX-A1H6-01B-11D-A22X-09	19:40376662-40376662	C	ENSG00000105223	ENST00000409735	Transcript	missense_variant	1430	1073	358	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=PLD3;BIOTYPE=protein_coding;EXON=11/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17158;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.69)
TCGA-WL-A834-01A-11D-A351-09	5:33457395-33457395	G	ENSG00000113407	ENST00000455217	Transcript	missense_variant	1197	1075	359	I/V	Att/Gtt	-	IMPACT=MODERATE;SYMBOL=TARS;BIOTYPE=protein_coding;EXON=10/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11572;TSL=2;SIFT=deleterious(0.04);PolyPhen=benign(0.088)
TCGA-MU-A51Y-01A-11D-A26G-09	19:362260-362260	G	ENSG00000105549	ENST00000342640	Transcript	missense_variant	1780	1080	360	M/I	atG/atC	rs867236298,COSM177951	IMPACT=MODERATE;SYMBOL=THEG;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13706;TSL=1;APPRIS=P4;SIFT=tolerated(0.12);PolyPhen=benign(0.007);SOMATIC=0,1;PHENO=0,1
TCGA-IR-A3LL-01A-11D-A20U-09	19:5751739-5751739	T	ENSG00000174898	ENST00000381624	Transcript	synonymous_variant	1141	1080	360	A	gcC/gcT	rs752988501	IMPACT=LOW;SYMBOL=CATSPERD;BIOTYPE=protein_coding;EXON=12/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28598;TSL=1;APPRIS=P1;ExAC_MAF=T:8.277e-06;ExAC_Adj_MAF=T:8.335e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.000117;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-MY-A5BD-01A-11D-A26G-09	19:6426421-6426421	T	ENSG00000181240	ENST00000321510	Transcript	missense_variant	1150	1081	361	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=SLC25A41;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(1)
TCGA-MY-A5BD-01A-11D-A26G-09	19:6426421-6426421	T	ENSG00000181240	ENST00000597558	Transcript	missense_variant,NMD_transcript_variant	1167	1081	361	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=SLC25A41;BIOTYPE=nonsense_mediated_decay;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28533;TSL=1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(1)
TCGA-JX-A3Q8-01A-11D-A21Q-09	1:203798606-203798606	T	ENSG00000257315	ENST00000550078	Transcript	missense_variant	2298	1084	362	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=ZBED6;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33273;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.223)
TCGA-EX-A1H6-01B-11D-A22X-09	14:20403832-20403832	A	ENSG00000129566	ENST00000262715	Transcript	missense_variant	1126	1085	362	R/L	cGt/cTt	rs149521092	IMPACT=MODERATE;SYMBOL=TEP1;BIOTYPE=protein_coding;EXON=6/55;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11726;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;AA_MAF=T:0.0002;EA_MAF=T:0;ExAC_MAF=A:2.471e-05,T:1.153e-04;ExAC_Adj_MAF=A:2.471e-05,T:0.0001153;ExAC_AFR_MAF=A:0,T:9.619e-05;ExAC_AMR_MAF=A:0.0001727,T:0;ExAC_EAS_MAF=A:0.0001156,T:0;ExAC_FIN_MAF=A:0,T:0.0009072;ExAC_NFE_MAF=A:0,T:0.0001049;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0
TCGA-EX-A1H6-01B-11D-A22X-09	14:20403832-20403832	A	ENSG00000129566	ENST00000555727	Transcript	missense_variant,NMD_transcript_variant	1124	1085	362	R/L	cGt/cTt	rs149521092	IMPACT=MODERATE;SYMBOL=TEP1;BIOTYPE=nonsense_mediated_decay;EXON=6/54;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11726;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;AA_MAF=T:0.0002;EA_MAF=T:0;ExAC_MAF=A:2.471e-05,T:1.153e-04;ExAC_Adj_MAF=A:2.471e-05,T:0.0001153;ExAC_AFR_MAF=A:0,T:9.619e-05;ExAC_AMR_MAF=A:0.0001727,T:0;ExAC_EAS_MAF=A:0.0001156,T:0;ExAC_FIN_MAF=A:0,T:0.0009072;ExAC_NFE_MAF=A:0,T:0.0001049;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0
TCGA-EK-A3GJ-01A-21D-A20U-09	9:19346894-19346894	T	ENSG00000137145	ENST00000380427	Transcript	synonymous_variant	1085	1086	362	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=2/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=2
TCGA-EK-A3GJ-01A-21D-A20U-09	1:153330788-153330788	C	ENSG00000163218	ENST00000368739	Transcript	synonymous_variant	1448	1089	363	T	acC/acG	-	IMPACT=LOW;SYMBOL=PGLYRP4;BIOTYPE=protein_coding;EXON=9/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30015;TSL=5;APPRIS=A1
TCGA-C5-A1MI-01A-11D-A14W-08	16:69153668-69153668	C	ENSG00000141076	ENST00000314423	Transcript	missense_variant	1264	1087	363	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=UTP4;BIOTYPE=protein_coding;EXON=9/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1983;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.944)
TCGA-C5-A1MI-01A-11D-A14W-08	16:69153668-69153668	C	ENSG00000141076	ENST00000352319	Transcript	missense_variant	1129	1087	363	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=UTP4;BIOTYPE=protein_coding;EXON=9/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1983;TSL=5;SIFT=deleterious(0);PolyPhen=benign(0.316)
TCGA-C5-A1MI-01A-11D-A14W-08	16:69153668-69153668	C	ENSG00000141076	ENST00000563094	Transcript	missense_variant	1121	1087	363	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=UTP4;BIOTYPE=protein_coding;EXON=9/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1983;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967)
TCGA-FU-A23L-01A-11D-A16O-08	11:489708-489708	C	ENSG00000174915	ENST00000308020	Transcript	missense_variant	1266	1090	364	E/Q	Gag/Cag	COSM458618	IMPACT=MODERATE;SYMBOL=PTDSS2;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15463;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);SOMATIC=1;PHENO=1
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000403461	Transcript	missense_variant,splice_region_variant	1096	1090	364	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=1;SIFT=tolerated_low_confidence(1);PolyPhen=benign(0)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000375290	Transcript	missense_variant,NMD_transcript_variant	1090	1090	364	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=nonsense_mediated_decay;EXON=7/21;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.71)
TCGA-C5-A1MQ-01A-11D-A14W-08	12:56720435-56720435	A	ENSG00000196531	ENST00000454682	Transcript	missense_variant	1377	1095	365	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=NACA;BIOTYPE=protein_coding;EXON=3/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7629;TSL=5;SIFT=deleterious_low_confidence(0.02);PolyPhen=possibly_damaging(0.872)
TCGA-C5-A1MQ-01A-11D-A14W-08	12:56720435-56720435	A	ENSG00000196531	ENST00000550952	Transcript	missense_variant	1134	1095	365	E/D	gaG/gaT	-	IMPACT=MODERATE;SYMBOL=NACA;BIOTYPE=protein_coding;EXON=3/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7629;TSL=2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0)
TCGA-JX-A5QV-01A-22D-A28B-09	5:11199587-11199587	G	ENSG00000169862	ENST00000513588	Transcript	synonymous_variant,NMD_transcript_variant	1225	1098	366	A	gcG/gcC	rs771023998	IMPACT=LOW;SYMBOL=CTNND2;BIOTYPE=nonsense_mediated_decay;EXON=9/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2516;TSL=1;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.237e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.498e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-IR-A3LL-01A-11D-A20U-09	9:33038806-33038806	A	ENSG00000086061	ENST00000330899	Transcript	missense_variant	1280	1097	366	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=DNAJA1;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:5229;TSL=1;APPRIS=P1;SIFT=tolerated(0.32);PolyPhen=benign(0.022)
TCGA-EK-A3GJ-01A-21D-A20U-09	1:153330788-153330788	C	ENSG00000163218	ENST00000359650	Transcript	synonymous_variant	1166	1101	367	T	acC/acG	-	IMPACT=LOW;SYMBOL=PGLYRP4;BIOTYPE=protein_coding;EXON=9/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30015;TSL=1;APPRIS=P2
TCGA-UC-A7PF-01A-11D-A351-09	19:3779086-3779086	G	ENSG00000007264	ENST00000310132	Transcript	missense_variant	1502	1103	368	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=MATK;BIOTYPE=protein_coding;EXON=12/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6906;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-UC-A7PF-01A-11D-A351-09	19:3779086-3779086	G	ENSG00000007264	ENST00000585778	Transcript	missense_variant	1368	1103	368	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=MATK;BIOTYPE=protein_coding;EXON=12/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6906;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.992)
TCGA-UC-A7PF-01A-11D-A351-09	19:3779086-3779086	G	ENSG00000007264	ENST00000395045	Transcript	missense_variant	1444	1106	369	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=MATK;BIOTYPE=protein_coding;EXON=12/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6906;TSL=2;APPRIS=P4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.96)
TCGA-UC-A7PF-01A-11D-A351-09	19:3779086-3779086	G	ENSG00000007264	ENST00000619596	Transcript	missense_variant	1106	1106	369	G/A	gGc/gCc	-	IMPACT=MODERATE;SYMBOL=MATK;BIOTYPE=protein_coding;EXON=11/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6906;TSL=2;APPRIS=P4;SIFT=deleterious(0);PolyPhen=probably_damaging(0.96)
TCGA-LP-A4AV-01A-11D-A243-09	19:4324496-4324496	T	ENSG00000178078	ENST00000594605	Transcript	missense_variant	1230	1106	369	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=12/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=1;APPRIS=A2
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729255-42729255	A	ENSG00000221826	ENST00000327495	Transcript	stop_gained	1296	1111	371	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729255-42729255	A	ENSG00000221826	ENST00000595140	Transcript	stop_gained	1204	1111	371	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=5;APPRIS=A2
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729255-42729255	A	ENSG00000221826	ENST00000614582	Transcript	stop_gained	1111	1111	371	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000254182	Transcript	stop_gained	1304	1111	371	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2
TCGA-IR-A3LF-01A-21D-A22X-09	4:3446052-3446052	T	ENSG00000109758	ENST00000382774	Transcript	synonymous_variant	1228	1113	371	T	acG/acT	-	IMPACT=LOW;SYMBOL=HGFAC;BIOTYPE=protein_coding;EXON=10/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4894;TSL=1;APPRIS=P3
TCGA-C5-A1MK-01A-11D-A14W-08	5:235338-235338	C	ENSG00000073578	ENST00000510361	Transcript	missense_variant,splice_region_variant	1153	1115	372	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=8/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.984)
TCGA-EA-A78R-01A-11D-A32I-09	17:1637052-1637052	T	ENSG00000074660	ENST00000348987	Transcript	missense_variant	1133	1117	373	D/N	Gat/Aat	-	IMPACT=MODERATE;SYMBOL=SCARF1;BIOTYPE=protein_coding;EXON=7/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16820;TSL=1;SIFT=tolerated(0.1);PolyPhen=benign(0.159)
TCGA-C5-A1M6-01A-11D-A13W-08	17:7578382-7578382	C	ENSG00000161960	ENST00000293831	Transcript	missense_variant	1133	1117	373	V/L	Gtt/Ctt	rs761383765	IMPACT=MODERATE;SYMBOL=EIF4A1;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3282;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.996);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.269e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:6.161e-05
TCGA-UC-A7PF-01A-11D-A351-09	19:6471304-6471304	A	ENSG00000205744	ENST00000543576	Transcript	splice_region_variant,synonymous_variant	1234	1119	373	G	ggC/ggT	rs772184055	IMPACT=LOW;SYMBOL=DENND1C;BIOTYPE=protein_coding;EXON=15/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26225;TSL=2;APPRIS=A2;ExAC_MAF=A:8.284e-06;ExAC_Adj_MAF=A:2.311e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:4.264e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3NI-01A-11D-A21Q-09	22:20709962-20709962	T	ENSG00000241973	ENST00000399213	Transcript	missense_variant	1118	1118	373	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=PI4KA;BIOTYPE=protein_coding;EXON=11/13;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8983;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EK-A2PM-01A-11D-A18J-09	19:45395670-45395670	C	ENSG00000104881	ENST00000360957	Transcript	missense_variant	1181	1120	374	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PPP1R13L;BIOTYPE=protein_coding;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18838;TSL=1;APPRIS=P1;SIFT=tolerated(0.36);PolyPhen=benign(0.147)
TCGA-EK-A2PM-01A-11D-A18J-09	19:45395670-45395670	C	ENSG00000104881	ENST00000418234	Transcript	missense_variant	1199	1120	374	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PPP1R13L;BIOTYPE=protein_coding;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18838;TSL=1;APPRIS=P1;SIFT=tolerated(0.36);PolyPhen=benign(0.147)
TCGA-C5-A1MF-01A-11D-A13W-08	6:26392863-26392863	T	ENSG00000124508	ENST00000352867	Transcript	missense_variant	1230	1120	374	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=BTN2A2;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1137;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.935)
TCGA-C5-A2LZ-01A-11D-A20U-09	12:21467488-21467488	T	ENSG00000121350	ENST00000240651	Transcript	missense_variant	1178	1124	375	P/L	cCg/cTg	-	IMPACT=MODERATE;SYMBOL=PYROXD1;BIOTYPE=protein_coding;EXON=11/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26162;TSL=1;APPRIS=P1
TCGA-C5-A7CJ-01A-11D-A32I-09	22:20709953-20709953	T	ENSG00000241973	ENST00000399213	Transcript	missense_variant	1127	1127	376	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PI4KA;BIOTYPE=protein_coding;EXON=11/13;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8983;TSL=5
TCGA-C5-A1MI-01A-11D-A14W-08	16:69153668-69153668	C	ENSG00000141076	ENST00000562237	Transcript	missense_variant	1129	1129	377	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=UTP4;BIOTYPE=protein_coding;EXON=9/17;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1983;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967)
TCGA-DG-A2KL-01A-11D-A17W-09	19:3532541-3532541	C	ENSG00000105325	ENST00000395095	Transcript	missense_variant	1133	1133	378	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1;APPRIS=A1
TCGA-DG-A2KL-01A-11D-A17W-09	19:3532541-3532541	C	ENSG00000105325	ENST00000441788	Transcript	missense_variant	1369	1133	378	G/A	gGt/gCt	-	IMPACT=MODERATE;SYMBOL=FZR1;BIOTYPE=protein_coding;EXON=11/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24824;TSL=1;APPRIS=P3
TCGA-DS-A3LQ-01A-21D-A21Q-09	19:6750600-6750600	T	ENSG00000125733	ENST00000600428	Transcript	synonymous_variant	1778	1132	378	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=13/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=5
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729234-42729234	A	ENSG00000221826	ENST00000327495	Transcript	stop_gained	1317	1132	378	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729234-42729234	A	ENSG00000221826	ENST00000595140	Transcript	stop_gained	1225	1132	378	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=5;APPRIS=A2
TCGA-Q1-A6DT-01A-11D-A32I-09	19:42729234-42729234	A	ENSG00000221826	ENST00000614582	Transcript	stop_gained	1132	1132	378	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000541801	Transcript	missense_variant	1313	1133	378	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=A2;SIFT=tolerated(0.9);PolyPhen=benign(0.136)
TCGA-IR-A3LF-01A-21D-A22X-09	4:3446052-3446052	T	ENSG00000109758	ENST00000511533	Transcript	synonymous_variant	1161	1134	378	T	acG/acT	-	IMPACT=LOW;SYMBOL=HGFAC;BIOTYPE=protein_coding;EXON=11/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4894;TSL=1;APPRIS=A2
TCGA-C5-A1BM-01A-11D-A13W-08	11:7960477-7960477	C	ENSG00000182261	ENST00000328600	Transcript	missense_variant	1297	1135	379	R/G	Cga/Gga	-	IMPACT=MODERATE;SYMBOL=NLRP10;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21464;TSL=1;APPRIS=P1;SIFT=tolerated(0.24);PolyPhen=benign(0.001)
TCGA-MY-A5BE-01A-21D-A26G-09	X:48458814-48458814	T	ENSG00000017483	ENST00000622196	Transcript	missense_variant	1825	1135	379	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=SLC38A5;BIOTYPE=protein_coding;EXON=14/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18070;TSL=5
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000347302	Transcript	stop_gained	1317	1138	380	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2
TCGA-EA-A411-01A-11D-A243-09	16:789659-789659	A	ENSG00000127586	ENST00000631357	Transcript	stop_lost	1141	1141	381	*/K	Tag/Aag	-	IMPACT=HIGH;SYMBOL=CHTF18;BIOTYPE=protein_coding;EXON=5/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18435;TSL=5;APPRIS=A2
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000352591	Transcript	splice_region_variant,synonymous_variant	1215	1143	381	T	acC/acG	-	IMPACT=LOW;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=1
TCGA-DG-A2KK-01A-11D-A17W-09	18:5291062-5291062	T	ENSG00000198081	ENST00000357006	Transcript	synonymous_variant	1485	1146	382	R	agG/agA	-	IMPACT=LOW;SYMBOL=ZBTB14;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12860;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	18:5291062-5291062	T	ENSG00000198081	ENST00000400143	Transcript	synonymous_variant	1610	1146	382	R	agG/agA	-	IMPACT=LOW;SYMBOL=ZBTB14;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12860;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	18:5291062-5291062	T	ENSG00000198081	ENST00000614697	Transcript	synonymous_variant	1299	1146	382	R	agG/agA	-	IMPACT=LOW;SYMBOL=ZBTB14;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12860;TSL=2;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	18:5291062-5291062	T	ENSG00000198081	ENST00000615385	Transcript	synonymous_variant	1308	1146	382	R	agG/agA	-	IMPACT=LOW;SYMBOL=ZBTB14;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12860;TSL=2;APPRIS=P1
TCGA-FU-A57G-01A-11D-A26G-09	19:5244287-5244287	T	ENSG00000105426	ENST00000262963	Transcript	missense_variant	1168	1145	382	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=7/28;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=5;APPRIS=A2
TCGA-FU-A57G-01A-11D-A26G-09	19:5244287-5244287	T	ENSG00000105426	ENST00000588012	Transcript	missense_variant	1168	1145	382	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=7/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=1;APPRIS=A2
TCGA-FU-A57G-01A-11D-A26G-09	19:5244287-5244287	T	ENSG00000105426	ENST00000592099	Transcript	missense_variant	1168	1145	382	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=7/28;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=1;APPRIS=A2
TCGA-DS-A7WI-01A-12D-A351-09	19:7172413-7172413	T	ENSG00000171105	ENST00000302850	Transcript	missense_variant	1288	1145	382	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=INSR;BIOTYPE=protein_coding;EXON=5/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6091;TSL=1;APPRIS=P3
TCGA-DS-A7WI-01A-12D-A351-09	19:7172413-7172413	T	ENSG00000171105	ENST00000341500	Transcript	missense_variant	1185	1145	382	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=INSR;BIOTYPE=protein_coding;EXON=5/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6091;TSL=1;APPRIS=A2
TCGA-FU-A3TX-01A-11D-A22X-09	9:35313966-35313966	C	ENSG00000198722	ENST00000378495	Transcript	missense_variant	1366	1144	382	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=10/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;APPRIS=P2;SIFT=deleterious_low_confidence(0.03);PolyPhen=possibly_damaging(0.77)
TCGA-FU-A3TX-01A-11D-A22X-09	9:35313966-35313966	C	ENSG00000198722	ENST00000619578	Transcript	missense_variant	1436	1144	382	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=10/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0.03);PolyPhen=probably_damaging(0.949)
TCGA-FU-A3TX-01A-11D-A22X-09	9:35313966-35313966	C	ENSG00000198722	ENST00000634487	Transcript	missense_variant,NMD_transcript_variant	1324	1144	382	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=nonsense_mediated_decay;EXON=10/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.994)
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000370268	Transcript	missense_variant	1182	1145	382	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=1;APPRIS=P3
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000449285	Transcript	missense_variant	1196	1148	383	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=2;APPRIS=A2
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000407202	Transcript	stop_gained	1148	1150	384	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000436731	Transcript	missense_variant,NMD_transcript_variant	1154	1154	385	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=nonsense_mediated_decay;EXON=15/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=5
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000539731	Transcript	missense_variant	1202	1154	385	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=5;APPRIS=A2
TCGA-FU-A57G-01A-11D-A26G-09	19:5244287-5244287	T	ENSG00000283229	ENST00000353284	Transcript	missense_variant	1157	1157	386	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=8/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=5;APPRIS=P1
TCGA-EK-A3GJ-01A-21D-A20U-09	6:47681717-47681717	T	ENSG00000164393	ENST00000296862	Transcript	synonymous_variant	1158	1158	386	N	aaC/aaT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=P5
TCGA-C5-A2M2-01A-21D-A18J-09	18:12463427-12463427	A	ENSG00000134278	ENST00000453447	Transcript	missense_variant	1269	1160	387	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=SPIRE1;BIOTYPE=protein_coding;EXON=11/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30622;TSL=5;SIFT=tolerated(0.12);PolyPhen=probably_damaging(0.999)
TCGA-MY-A5BD-01A-11D-A26G-09	3:134366309-134366309	T	ENSG00000114019	ENST00000249883	Transcript	missense_variant	1474	1160	387	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=AMOTL2;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17812;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-MY-A5BD-01A-11D-A26G-09	3:134366309-134366309	T	ENSG00000114019	ENST00000422605	Transcript	missense_variant	1327	1160	387	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=AMOTL2;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17812;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.985)
TCGA-MY-A5BD-01A-11D-A26G-09	3:134366309-134366309	T	ENSG00000114019	ENST00000513145	Transcript	missense_variant	1325	1160	387	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=AMOTL2;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17812;TSL=1;APPRIS=A1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-BI-A0VR-01A-11D-A10S-08	10:89717615-89717615	T	ENSG00000138182	ENST00000260753	Transcript	synonymous_variant	1236	1164	388	I	atC/atT	-	IMPACT=LOW;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=P3
TCGA-BI-A0VR-01A-11D-A10S-08	10:89717615-89717615	T	ENSG00000138182	ENST00000371728	Transcript	synonymous_variant	1229	1164	388	I	atC/atT	-	IMPACT=LOW;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=A2
TCGA-C5-A3HD-01B-11D-A20U-09	19:308613-308613	A	ENSG00000105556	ENST00000264819	Transcript	missense_variant	1162	1162	388	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=MIER2;BIOTYPE=protein_coding;EXON=12/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29210;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.012)
TCGA-BI-A0VS-01A-11D-A10S-08	9:14750127-14750127	G	ENSG00000164946	ENST00000380894	Transcript	missense_variant,splice_region_variant	1254	1165	389	G/R	Gga/Cga	rs779919905	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=protein_coding;EXON=7/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.945);ExAC_MAF=A:1.656e-05;ExAC_Adj_MAF=A:1.657e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0.0001212
TCGA-EX-A69L-01A-11D-A32I-09	18:2544664-2544664	A	ENSG00000101574	ENST00000319888	Transcript	synonymous_variant	1969	1170	390	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=METTL4;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24726;TSL=5
TCGA-EX-A69L-01A-11D-A32I-09	18:2544664-2544664	A	ENSG00000101574	ENST00000574538	Transcript	synonymous_variant	1946	1170	390	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=METTL4;BIOTYPE=protein_coding;EXON=7/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24726;TSL=1;APPRIS=P1
TCGA-C5-A2LZ-01A-11D-A20U-09	19:42729195-42729195	C	ENSG00000221826	ENST00000327495	Transcript	missense_variant	1356	1171	391	L/V	Ctc/Gtc	COSM3534858,COSM5651398	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2;SIFT=tolerated(0.29);PolyPhen=benign(0.17);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	19:42729195-42729195	C	ENSG00000221826	ENST00000595140	Transcript	missense_variant	1264	1171	391	L/V	Ctc/Gtc	COSM3534858,COSM5651398	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=5;APPRIS=A2;SIFT=tolerated(0.29);PolyPhen=benign(0.172);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	19:42729195-42729195	C	ENSG00000221826	ENST00000614582	Transcript	missense_variant	1171	1171	391	L/V	Ctc/Gtc	COSM3534858,COSM5651398	IMPACT=MODERATE;SYMBOL=PSG3;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9520;TSL=1;APPRIS=P2;SIFT=tolerated(0.29);PolyPhen=benign(0.17);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A7UH-01A-11D-A351-09	19:57641463-57641463	C	ENSG00000121417	ENST00000299871	Transcript	missense_variant	1303	1172	391	C/S	tGc/tCc	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=P4;SIFT=tolerated(0.79);PolyPhen=benign(0.11)
TCGA-C5-A7UE-01A-11D-A33O-09	6:30153705-30153705	G	ENSG00000204613	ENST00000376704	Transcript	missense_variant	1247	1171	391	S/P	Tca/Cca	-	IMPACT=MODERATE;SYMBOL=TRIM10;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10072;TSL=1;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.064)
TCGA-MY-A5BD-01A-11D-A26G-09	6:97246639-97246639	C	ENSG00000146263	ENST00000275053	Transcript	missense_variant	1437	1171	391	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=MMS22L;BIOTYPE=protein_coding;EXON=11/25;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21475;TSL=2;APPRIS=P1;SIFT=tolerated(0.42);PolyPhen=benign(0.011)
TCGA-MY-A5BD-01A-11D-A26G-09	6:97246639-97246639	C	ENSG00000146263	ENST00000369251	Transcript	missense_variant	1247	1171	391	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=MMS22L;BIOTYPE=protein_coding;EXON=10/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21475;TSL=2;SIFT=tolerated(0.46);PolyPhen=benign(0.011)
TCGA-UC-A7PF-01A-11D-A351-09	19:1119543-1119543	G	ENSG00000064932	ENST00000438103	Transcript	missense_variant	1199	1175	392	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=10/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2;SIFT=tolerated(0.38);PolyPhen=benign(0.287)
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000254182	Transcript	missense_variant	1368	1175	392	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.867)
TCGA-IR-A3LL-01A-11D-A20U-09	9:2823795-2823795	G	ENSG00000080608	ENST00000397885	Transcript	missense_variant	1381	1174	392	E/Q	Gaa/Caa	COSM4849623	IMPACT=MODERATE;SYMBOL=PUM3;BIOTYPE=protein_coding;EXON=12/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29676;TSL=1;APPRIS=P1;SIFT=tolerated(0.28);PolyPhen=benign(0.009);SOMATIC=1;PHENO=1
TCGA-EK-A2RJ-01A-11D-A18J-09	9:16436817-16436817	A	ENSG00000173068	ENST00000380667	Transcript	synonymous_variant	1259	1176	392	H	caC/caT	-	IMPACT=LOW;SYMBOL=BNC2;BIOTYPE=protein_coding;EXON=5/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30988;TSL=5;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	9:34286656-34286656	T	ENSG00000186638	ENST00000402558	Transcript	synonymous_variant	1201	1176	392	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=KIF24;BIOTYPE=protein_coding;EXON=5/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19916;TSL=5;APPRIS=P1
TCGA-EA-A3HQ-01A-11D-A20U-09	18:346444-346444	T	ENSG00000158270	ENST00000400256	Transcript	missense_variant	1386	1178	393	R/H	cGt/cAt	rs146515222	IMPACT=MODERATE;SYMBOL=COLEC12;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16016;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.811);AA_MAF=T:0.0002;EA_MAF=T:0.0002;ExAC_MAF=T:5.765e-05;ExAC_Adj_MAF=T:5.766e-05;ExAC_AFR_MAF=T:9.61e-05;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:7.492e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:6.056e-05
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000240731	Transcript	stop_gained	1296	1177	393	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;APPRIS=A2
TCGA-FU-A3TX-01A-11D-A22X-09	9:35313966-35313966	C	ENSG00000198722	ENST00000396787	Transcript	missense_variant	1462	1180	394	E/Q	Gag/Cag	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=11/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.203)
TCGA-FU-A57G-01A-11D-A26G-09	19:5244287-5244287	T	ENSG00000105426	ENST00000587303	Transcript	missense_variant	1284	1184	395	S/N	aGc/aAc	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=10/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=1;APPRIS=P4
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000599389	Transcript	missense_variant,splice_region_variant	1290	1183	395	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=5;SIFT=tolerated_low_confidence(1);PolyPhen=benign(0)
TCGA-C5-A1MN-01A-11D-A14W-08	5:10415612-10415612	A	ENSG00000145495	ENST00000510792	Transcript	synonymous_variant	1321	1185	395	A	gcG/gcA	rs745995955	IMPACT=LOW;SYMBOL=MARCH6;BIOTYPE=protein_coding;EXON=10/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30550;TSL=2;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.241e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.499e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2H0-01A-11D-A17W-09	19:4216286-4216286	A	ENSG00000089847	ENST00000597689	Transcript	missense_variant,splice_region_variant	1191	1186	396	A/T	Gcc/Acc	rs35197554	IMPACT=MODERATE;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=15/16;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=1;APPRIS=A2;SIFT=tolerated(0.18);PolyPhen=possibly_damaging(0.615)
TCGA-Q1-A73R-01A-11D-A33O-09	9:36222893-36222893	A	ENSG00000159921	ENST00000539208	Transcript	missense_variant	1325	1187	396	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.165)
TCGA-EK-A2RN-01A-12D-A20U-09	9:35043829-35043829	C	ENSG00000174038	ENST00000312292	Transcript	missense_variant	1247	1200	400	R/S	agG/agC	-	IMPACT=MODERATE;SYMBOL=C9orf131;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31418;TSL=1;APPRIS=P3;SIFT=tolerated(0.13);PolyPhen=benign(0)
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000347302	Transcript	missense_variant	1381	1202	401	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000430669	Transcript	missense_variant	1788	1202	401	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000437951	Transcript	missense_variant	1696	1202	401	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A7CL-01A-11D-A32I-09	10:89717661-89717661	G	ENSG00000138182	ENST00000260753	Transcript	missense_variant	1282	1210	404	H/D	Cac/Gac	rs372350190	IMPACT=MODERATE;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.246e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.5e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A7CL-01A-11D-A32I-09	10:89717661-89717661	G	ENSG00000138182	ENST00000371728	Transcript	missense_variant	1275	1210	404	H/D	Cac/Gac	rs372350190	IMPACT=MODERATE;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.987);AA_MAF=T:0;EA_MAF=T:0.0001;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.246e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.5e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000407202	Transcript	missense_variant	1212	1214	405	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.96)
TCGA-EA-A3HR-01A-11D-A20U-09	12:52771916-52771916	A	ENSG00000185069	ENST00000332411	Transcript	synonymous_variant	1272	1218	406	S	agC/agT	-	IMPACT=LOW;SYMBOL=KRT76;BIOTYPE=protein_coding;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24430;TSL=1;APPRIS=P1
TCGA-EA-A5FO-01A-21D-A28B-09	10:89717672-89717672	T	ENSG00000138182	ENST00000260753	Transcript	synonymous_variant	1293	1221	407	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=P3
TCGA-EA-A5FO-01A-21D-A28B-09	10:89717672-89717672	T	ENSG00000138182	ENST00000371728	Transcript	synonymous_variant	1286	1221	407	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=KIF20B;BIOTYPE=protein_coding;EXON=11/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7212;TSL=1;APPRIS=A2
TCGA-EA-A5ZF-01A-11D-A28B-09	19:1063796-1063796	A	ENSG00000064687	ENST00000525073	Transcript	missense_variant	1217	1219	407	G/S	Ggc/Agc	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=11/14;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991)
TCGA-LP-A5U2-01A-11D-A28B-09	19:5787352-5787352	T	ENSG00000141994	ENST00000309061	Transcript	missense_variant	1319	1222	408	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=7/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=P3;SIFT=tolerated(0.67);PolyPhen=benign(0.016)
TCGA-IR-A3LC-01A-11D-A20U-09	19:3290270-3290270	T	ENSG00000161082	ENST00000292672	Transcript	missense_variant	1263	1226	409	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=CELF5;BIOTYPE=protein_coding;EXON=11/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14058;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.992)
TCGA-Q1-A5R2-01A-11D-A28B-09	12:53431271-53431271	G	ENSG00000135409	ENST00000379791	Transcript	missense_variant	1235	1235	412	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=AMHR2;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:465;TSL=1;SIFT=deleterious_low_confidence(0.02);PolyPhen=benign(0.092)
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000358394	Transcript	splice_region_variant,synonymous_variant	1328	1236	412	T	acC/acG	-	IMPACT=LOW;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=1
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000240731	Transcript	missense_variant	1360	1241	414	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.953)
TCGA-DG-A2KK-01A-11D-A17W-09	9:19300261-19300261	C	ENSG00000137145	ENST00000434457	Transcript	missense_variant	1657	1241	414	R/P	cGt/cCt	-	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=9/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=5;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-DG-A2KK-01A-11D-A17W-09	9:19300261-19300261	C	ENSG00000137145	ENST00000602925	Transcript	missense_variant	1657	1241	414	R/P	cGt/cCt	-	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=9/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(1)
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000370270	Transcript	missense_variant	1241	1241	414	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=16/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=1;APPRIS=A2
TCGA-MU-A51Y-01A-11D-A26G-09	X:152938100-152938100	T	ENSG00000147394	ENST00000535861	Transcript	missense_variant	1289	1241	414	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=ZNF185;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12976;TSL=5;APPRIS=A2
TCGA-LP-A4AV-01A-11D-A243-09	19:4324496-4324496	T	ENSG00000178078	ENST00000600324	Transcript	missense_variant	1312	1244	415	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=STAP2;BIOTYPE=protein_coding;EXON=12/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30430;TSL=2;APPRIS=P3
TCGA-EA-A3QE-01A-21D-A21Q-09	9:39149948-39149948	T	ENSG00000106714	ENST00000358144	Transcript	missense_variant	1299	1243	415	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=8/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=5;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.993)
TCGA-C5-A3HE-01A-21D-A22X-09	11:376300-376300	A	ENSG00000182272	ENST00000329962	Transcript	missense_variant	1246	1246	416	D/N	Gat/Aat	COSM4827681	IMPACT=MODERATE;SYMBOL=B4GALNT4;BIOTYPE=protein_coding;EXON=13/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26315;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=possibly_damaging(0.76);SOMATIC=1;PHENO=1
TCGA-EK-A2RJ-01A-11D-A18J-09	9:16436817-16436817	A	ENSG00000173068	ENST00000418777	Transcript	synonymous_variant	1248	1248	416	H	caC/caT	-	IMPACT=LOW;SYMBOL=BNC2;BIOTYPE=protein_coding;EXON=4/6;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30988;TSL=5
TCGA-UC-A7PF-01A-11D-A351-09	19:6471304-6471304	A	ENSG00000205744	ENST00000381480	Transcript	splice_region_variant,synonymous_variant	1364	1251	417	G	ggC/ggT	rs772184055	IMPACT=LOW;SYMBOL=DENND1C;BIOTYPE=protein_coding;EXON=17/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26225;TSL=1;APPRIS=P3;ExAC_MAF=A:8.284e-06;ExAC_Adj_MAF=A:2.311e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:4.264e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A2LZ-01A-11D-A20U-09	11:45948919-45948919	T	ENSG00000135365	ENST00000418153	Transcript	missense_variant	1452	1252	418	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PHF21A;BIOTYPE=protein_coding;EXON=13/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24156;TSL=2;APPRIS=P1
TCGA-C5-A3HE-01A-21D-A22X-09	11:376309-376309	A	ENSG00000182272	ENST00000329962	Transcript	missense_variant	1255	1255	419	D/N	Gac/Aac	rs750054367,COSM4827698	IMPACT=MODERATE;SYMBOL=B4GALNT4;BIOTYPE=protein_coding;EXON=13/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26315;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=benign(0.344);ExAC_MAF=A:8.274e-06;ExAC_Adj_MAF=A:8.632e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.574e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A2LZ-01A-11D-A20U-09	11:45948919-45948919	T	ENSG00000135365	ENST00000323180	Transcript	missense_variant	1623	1255	419	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=PHF21A;BIOTYPE=protein_coding;EXON=13/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24156;TSL=1
TCGA-EA-A3QE-01A-21D-A21Q-09	5:180626112-180626112	T	ENSG00000037280	ENST00000261937	Transcript	missense_variant,splice_region_variant	1336	1257	419	N/K	aaC/aaA	-	IMPACT=MODERATE;SYMBOL=FLT4;BIOTYPE=protein_coding;EXON=9/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3767;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971)
TCGA-EA-A3QE-01A-21D-A21Q-09	5:180626112-180626112	T	ENSG00000037280	ENST00000393347	Transcript	missense_variant,splice_region_variant	1336	1257	419	N/K	aaC/aaA	-	IMPACT=MODERATE;SYMBOL=FLT4;BIOTYPE=protein_coding;EXON=9/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3767;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.936)
TCGA-EA-A3QE-01A-21D-A21Q-09	5:180626112-180626112	T	ENSG00000037280	ENST00000502649	Transcript	missense_variant,splice_region_variant	1312	1257	419	N/K	aaC/aaA	-	IMPACT=MODERATE;SYMBOL=FLT4;BIOTYPE=protein_coding;EXON=9/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3767;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.936)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000430669	Transcript	missense_variant	1841	1255	419	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000437951	Transcript	missense_variant	1749	1255	419	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EA-A411-01A-11D-A243-09	18:2728529-2728529	T	ENSG00000101596	ENST00000577880	Transcript	missense_variant,NMD_transcript_variant	1259	1259	420	S/F	tCt/tTt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=12/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2
TCGA-JW-A69B-01A-11D-A32I-09	4:140393933-140393933	A	ENSG00000153132	ENST00000325617	Transcript	missense_variant	1699	1258	420	P/S	Cct/Tct	rs780722455	IMPACT=MODERATE;SYMBOL=CLGN;BIOTYPE=protein_coding;EXON=11/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2060;TSL=1;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.285e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.506e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-JW-A69B-01A-11D-A32I-09	4:140393933-140393933	A	ENSG00000153132	ENST00000414773	Transcript	missense_variant	1476	1258	420	P/S	Cct/Tct	rs780722455	IMPACT=MODERATE;SYMBOL=CLGN;BIOTYPE=protein_coding;EXON=12/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2060;TSL=5;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.285e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.506e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1MK-01A-11D-A14W-08	5:235338-235338	C	ENSG00000073578	ENST00000264932	Transcript	missense_variant,splice_region_variant	1374	1259	420	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=9/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.994)
TCGA-C5-A1MK-01A-11D-A14W-08	5:235338-235338	C	ENSG00000073578	ENST00000504309	Transcript	missense_variant,splice_region_variant	1312	1259	420	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=SDHA;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10680;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.996)
TCGA-EK-A2RJ-01A-11D-A18J-09	11:124637152-124637152	T	ENSG00000110013	ENST00000545756	Transcript	synonymous_variant	1558	1266	422	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=SIAE;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18187;TSL=1;APPRIS=A2
TCGA-EK-A2RJ-01A-11D-A18J-09	11:124637152-124637152	T	ENSG00000110013	ENST00000618733	Transcript	synonymous_variant	1675	1266	422	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=SIAE;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18187;TSL=1;APPRIS=A2
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000550186	Transcript	stop_gained	1318	1266	422	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=14/18;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=2
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000221899	Transcript	synonymous_variant	1319	1266	422	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CACTIN;BIOTYPE=protein_coding;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=1;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000248420	Transcript	synonymous_variant	1319	1266	422	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CACTIN;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=5;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000429344	Transcript	synonymous_variant	1319	1266	422	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CACTIN;BIOTYPE=protein_coding;EXON=7/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=2;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	19:3614486-3614486	T	ENSG00000105298	ENST00000585942	Transcript	synonymous_variant,NMD_transcript_variant	1319	1266	422	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=CACTIN;BIOTYPE=nonsense_mediated_decay;EXON=7/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29938;TSL=1
TCGA-C5-A3HE-01A-21D-A22X-09	14:64469664-64469664	T	ENSG00000179841	ENST00000320636	Transcript	missense_variant	2558	1270	424	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=AKAP5;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:375;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.459)
TCGA-C5-A3HE-01A-21D-A22X-09	14:64469664-64469664	T	ENSG00000179841	ENST00000394718	Transcript	missense_variant	1648	1270	424	H/Y	Cat/Tat	-	IMPACT=MODERATE;SYMBOL=AKAP5;BIOTYPE=protein_coding;EXON=2/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:375;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.459)
TCGA-EK-A2H0-01A-11D-A17W-09	19:4216286-4216286	A	ENSG00000089847	ENST00000318934	Transcript	missense_variant,splice_region_variant	1429	1273	425	A/T	Gcc/Acc	rs35197554	IMPACT=MODERATE;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=16/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=P2;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.811)
TCGA-EK-A2H0-01A-11D-A17W-09	19:4216286-4216286	A	ENSG00000089847	ENST00000600132	Transcript	missense_variant,splice_region_variant	1549	1273	425	A/T	Gcc/Acc	rs35197554	IMPACT=MODERATE;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=17/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=P2;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.811)
TCGA-FU-A3HY-01A-11D-A21Q-09	11:605255-605255	G	ENSG00000070047	ENST00000533464	Transcript	missense_variant	1370	1277	426	S/C	tCt/tGt	COSM4838531,COSM4838532	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=11/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.971);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A4AV-01A-11D-A243-09	19:57328738-57328738	T	ENSG00000178229	ENST00000321545	Transcript	missense_variant	1621	1276	426	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=ZNF543;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25281;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.95)
TCGA-FU-A3HY-01A-11D-A21Q-09	11:605255-605255	G	ENSG00000070047	ENST00000413872	Transcript	missense_variant	1379	1286	429	S/C	tCt/tGt	COSM4838531,COSM4838532	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=11/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.976);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BN-01B-11D-A14W-08	19:1555705-1555705	T	ENSG00000181588	ENST00000605173	Transcript	missense_variant	1286	1286	429	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=MEX3D;BIOTYPE=protein_coding;EXON=2/3;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16734;TSL=1;APPRIS=A2
TCGA-FU-A3HY-01A-11D-A21Q-09	11:605255-605255	G	ENSG00000070047	ENST00000264555	Transcript	missense_variant	1417	1289	430	S/C	tCt/tGt	COSM4838531,COSM4838532	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=11/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.922);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A3HY-01A-11D-A21Q-09	11:605255-605255	G	ENSG00000070047	ENST00000416188	Transcript	missense_variant	1382	1289	430	S/C	tCt/tGt	COSM4838531,COSM4838532	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=11/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.982);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A3HY-01A-11D-A21Q-09	11:605255-605255	G	ENSG00000070047	ENST00000534320	Transcript	missense_variant,NMD_transcript_variant	1417	1289	430	S/C	tCt/tGt	COSM4838531,COSM4838532	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=nonsense_mediated_decay;EXON=11/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.987);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BK-01B-11D-A13W-08	11:399985-399985	T	ENSG00000184363	ENST00000331563	Transcript	missense_variant	1368	1292	431	S/L	tCa/tTa	COSM4826248	IMPACT=MODERATE;SYMBOL=PKP3;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9025;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);SOMATIC=1;PHENO=1
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000437628	Transcript	missense_variant	1365	1292	431	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000455086	Transcript	missense_variant	1336	1292	431	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000541801	Transcript	stop_gained	1474	1294	432	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=A2
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000551209	Transcript	stop_gained	1299	1299	433	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=14/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=5
TCGA-IR-A3L7-01A-21D-A20U-09	6:16327014-16327014	C	ENSG00000124788	ENST00000244769	Transcript	missense_variant	2234	1297	433	I/V	Atc/Gtc	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1
TCGA-IR-A3L7-01A-21D-A20U-09	6:16327014-16327014	C	ENSG00000124788	ENST00000436367	Transcript	missense_variant	2219	1297	433	I/V	Atc/Gtc	-	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000354574	Transcript	stop_gained	1473	1308	436	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=15/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=5
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000457474	Transcript	stop_gained	1379	1308	436	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=15/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=1
TCGA-EK-A2R8-01A-21D-A18J-09	19:608051-608051	A	ENSG00000099822	ENST00000251287	Transcript	missense_variant	1359	1306	436	E/K	Gag/Aag	COSM4822561	IMPACT=MODERATE;SYMBOL=HCN2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4846;TSL=1;APPRIS=P1;SIFT=tolerated(0.64);PolyPhen=benign(0.039);SOMATIC=1;PHENO=1
TCGA-FU-A5XV-01A-11D-A28B-09	9:17309221-17309221	T	ENSG00000044459	ENST00000380647	Transcript	missense_variant	1394	1310	437	P/L	cCt/cTt	-	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=8/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3;SIFT=tolerated(0.41);PolyPhen=benign(0.003)
TCGA-LP-A4AX-01A-12D-A243-09	19:2210818-2210818	T	ENSG00000104885	ENST00000398665	Transcript	synonymous_variant	1350	1314	438	A	gcC/gcT	-	IMPACT=LOW;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=14/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=1;APPRIS=P1
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000311227	Transcript	missense_variant	1407	1316	439	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=1;APPRIS=P3
TCGA-C5-A7CL-01A-11D-A32I-09	15:55677852-55677852	T	ENSG00000166450	ENST00000389286	Transcript	synonymous_variant	1374	1326	442	P	ccG/ccA	-	IMPACT=LOW;SYMBOL=PRTG;BIOTYPE=protein_coding;EXON=8/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26373;TSL=1;APPRIS=P1
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000377214	Transcript	missense_variant	1688	1325	442	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=2;APPRIS=A1
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000601519	Transcript	missense_variant	1410	1325	442	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=1;APPRIS=A1
TCGA-UC-A7PD-01A-11D-A351-09	3:58849304-58849304	T	ENSG00000163689	ENST00000482387	Transcript	missense_variant	1421	1324	442	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=C3orf67;BIOTYPE=protein_coding;EXON=9/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24763;TSL=5
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000593945	Transcript	missense_variant	1384	1328	443	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=1;APPRIS=A2
TCGA-LP-A4AV-01A-11D-A243-09	19:49341352-49341352	T	ENSG00000074219	ENST00000598810	Transcript	missense_variant	1434	1328	443	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=TEAD2;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11715;TSL=1;APPRIS=A2
TCGA-C5-A7CK-01A-11D-A32I-09	18:2931377-2931377	T	ENSG00000101577	ENST00000261596	Transcript	missense_variant	1574	1335	445	H/Q	caC/caA	-	IMPACT=MODERATE;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=9/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=1;APPRIS=P1
TCGA-EK-A3GJ-01A-21D-A20U-09	19:1366351-1366351	G	ENSG00000160953	ENST00000415183	Transcript	missense_variant	1360	1334	445	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=7/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.966)
TCGA-EK-A3GJ-01A-21D-A20U-09	19:1366351-1366351	G	ENSG00000160953	ENST00000591806	Transcript	missense_variant	1410	1334	445	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.848)
TCGA-EK-A3GJ-01A-21D-A20U-09	19:1366351-1366351	G	ENSG00000160953	ENST00000627377	Transcript	missense_variant	1334	1334	445	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=MUM1;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29641;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.966)
TCGA-C5-A2M2-01A-21D-A18J-09	19:57641624-57641624	T	ENSG00000121417	ENST00000299871	Transcript	stop_gained	1464	1333	445	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=P4
TCGA-HM-A4S6-01A-11D-A26G-09	19:58514257-58514257	G	ENSG00000119574	ENST00000354590	Transcript	missense_variant	1625	1333	445	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=ZBTB45;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23715;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.14)
TCGA-HM-A4S6-01A-11D-A26G-09	19:58514257-58514257	G	ENSG00000119574	ENST00000594051	Transcript	missense_variant	1814	1333	445	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=ZBTB45;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23715;TSL=2;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.14)
TCGA-HM-A4S6-01A-11D-A26G-09	19:58514257-58514257	G	ENSG00000119574	ENST00000600990	Transcript	missense_variant	1468	1333	445	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=ZBTB45;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23715;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=benign(0.14)
TCGA-MY-A5BD-01A-11D-A26G-09	3:134366309-134366309	T	ENSG00000114019	ENST00000514516	Transcript	missense_variant	1513	1334	445	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=AMOTL2;BIOTYPE=protein_coding;EXON=4/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17812;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:47682098-47682098	T	ENSG00000164393	ENST00000398742	Transcript	synonymous_variant	1384	1335	445	T	acG/acT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=5/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=A2
TCGA-EA-A3HQ-01A-11D-A20U-09	6:47682098-47682098	T	ENSG00000164393	ENST00000467205	Transcript	synonymous_variant,NMD_transcript_variant	1611	1335	445	T	acG/acT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=nonsense_mediated_decay;EXON=7/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1
TCGA-EA-A3HQ-01A-11D-A20U-09	6:47682098-47682098	T	ENSG00000164393	ENST00000507065	Transcript	synonymous_variant	1613	1335	445	T	acG/acT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=5;APPRIS=A2
TCGA-UC-A7PF-01A-11D-A351-09	19:1119543-1119543	G	ENSG00000064932	ENST00000361757	Transcript	missense_variant	1584	1346	449	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=13/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=1;APPRIS=P4;SIFT=tolerated(0.31);PolyPhen=benign(0.044)
TCGA-UC-A7PF-01A-11D-A351-09	19:1119543-1119543	G	ENSG00000064932	ENST00000587024	Transcript	missense_variant	1557	1346	449	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=13/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2;SIFT=tolerated(0.24);PolyPhen=possibly_damaging(0.547)
TCGA-C5-A1M6-01A-11D-A13W-08	19:1827430-1827430	T	ENSG00000079313	ENST00000170168	Transcript	synonymous_variant	1464	1359	453	R	cgG/cgA	-	IMPACT=LOW;SYMBOL=REXO1;BIOTYPE=protein_coding;EXON=2/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24616;TSL=1;APPRIS=P1
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000541801	Transcript	missense_variant	1538	1358	453	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.956)
TCGA-EA-A44S-01A-12D-A26G-09	3:52439883-52439883	A	ENSG00000010319	ENST00000231721	Transcript	synonymous_variant	1359	1359	453	V	gtC/gtT	-	IMPACT=LOW;SYMBOL=SEMA3G;BIOTYPE=protein_coding;EXON=11/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30400;TSL=1;APPRIS=P1
TCGA-EK-A2RB-01A-11D-A18J-09	3:52439883-52439883	A	ENSG00000010319	ENST00000231721	Transcript	synonymous_variant	1359	1359	453	V	gtC/gtT	-	IMPACT=LOW;SYMBOL=SEMA3G;BIOTYPE=protein_coding;EXON=11/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30400;TSL=1;APPRIS=P1
TCGA-EX-A69L-01A-11D-A32I-09	11:113813893-113813893	T	ENSG00000048028	ENST00000545540	Transcript	missense_variant	1593	1360	454	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=USP28;BIOTYPE=protein_coding;EXON=13/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12625;TSL=2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.458)
TCGA-C5-A1BF-01B-11D-A13W-08	19:2120979-2120979	A	ENSG00000065000	ENST00000345016	Transcript	missense_variant	1587	1364	455	G/V	gGc/gTc	-	IMPACT=MODERATE;SYMBOL=AP3D1;BIOTYPE=protein_coding;EXON=14/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:568;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.733)
TCGA-C5-A1BF-01B-11D-A13W-08	19:2120979-2120979	A	ENSG00000065000	ENST00000355272	Transcript	missense_variant	1571	1364	455	G/V	gGc/gTc	-	IMPACT=MODERATE;SYMBOL=AP3D1;BIOTYPE=protein_coding;EXON=14/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:568;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.614)
TCGA-IR-A3LL-01A-11D-A20U-09	19:5696116-5696116	G	ENSG00000196365	ENST00000540670	Transcript	missense_variant	1876	1363	455	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=13/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000338150	Transcript	missense_variant	1595	1367	456	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=5/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.894)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000379918	Transcript	missense_variant	1591	1367	456	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=5/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.933)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000458291	Transcript	missense_variant,NMD_transcript_variant	1579	1367	456	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=nonsense_mediated_decay;EXON=5/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.954)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000502583	Transcript	missense_variant	1932	1367	456	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=5/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.888)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000512086	Transcript	missense_variant	1570	1367	456	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=5/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.894)
TCGA-EK-A2RJ-01A-11D-A18J-09	11:124637152-124637152	T	ENSG00000110013	ENST00000263593	Transcript	synonymous_variant	1544	1371	457	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=SIAE;BIOTYPE=protein_coding;EXON=10/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18187;TSL=1;APPRIS=P3
TCGA-Q1-A73P-01A-11D-A32I-09	15:72580886-72580886	G	ENSG00000166233	ENST00000379887	Transcript	missense_variant	1685	1371	457	F/L	ttC/ttG	-	IMPACT=MODERATE;SYMBOL=ARIH1;BIOTYPE=protein_coding;EXON=12/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:689;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967)
TCGA-EA-A78R-01A-11D-A32I-09	17:1637052-1637052	T	ENSG00000074660	ENST00000263071	Transcript	missense_variant	1425	1375	459	D/N	Gat/Aat	-	IMPACT=MODERATE;SYMBOL=SCARF1;BIOTYPE=protein_coding;EXON=9/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16820;TSL=1;APPRIS=P3;SIFT=tolerated(0.07);PolyPhen=benign(0.071)
TCGA-EA-A78R-01A-11D-A32I-09	17:1637052-1637052	T	ENSG00000074660	ENST00000571272	Transcript	missense_variant	1422	1375	459	D/N	Gat/Aat	-	IMPACT=MODERATE;SYMBOL=SCARF1;BIOTYPE=protein_coding;EXON=9/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16820;TSL=1;APPRIS=A2;SIFT=tolerated(0.11);PolyPhen=benign(0.149)
TCGA-EK-A2RJ-01A-11D-A18J-09	9:16436817-16436817	A	ENSG00000173068	ENST00000380672	Transcript	synonymous_variant	1435	1377	459	H	caC/caT	-	IMPACT=LOW;SYMBOL=BNC2;BIOTYPE=protein_coding;EXON=6/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30988;TSL=2;APPRIS=P2
TCGA-EK-A2RJ-01A-11D-A18J-09	9:16436817-16436817	A	ENSG00000173068	ENST00000484726	Transcript	synonymous_variant,NMD_transcript_variant	1489	1377	459	H	caC/caT	-	IMPACT=LOW;SYMBOL=BNC2;BIOTYPE=nonsense_mediated_decay;EXON=6/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30988;TSL=5
TCGA-C5-A1BF-01B-11D-A13W-08	17:7227237-7227237	T	ENSG00000004975	ENST00000575458	Transcript	missense_variant	1434	1378	460	L/M	Ctg/Atg	-	IMPACT=MODERATE;SYMBOL=DVL2;BIOTYPE=protein_coding;EXON=13/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3086;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.989)
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000403444	Transcript	missense_variant,splice_region_variant	1482	1378	460	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=1;APPRIS=A2;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-DG-A2KK-01A-11D-A17W-09	3:48463769-48463769	T	ENSG00000282827	ENST00000357105	Transcript	synonymous_variant	1696	1389	463	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=ATRIP;BIOTYPE=protein_coding;EXON=10/14;STRAND=1;SYMBOL_SOURCE=EntrezGene;HGNC_ID=HGNC:33499;TSL=2;APPRIS=P1
TCGA-C5-A7UH-01A-11D-A351-09	1:155291887-155291887	T	ENSG00000143627	ENST00000392414	Transcript	missense_variant	1508	1394	465	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PKLR;BIOTYPE=protein_coding;EXON=10/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9020;TSL=1;APPRIS=A1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.934)
TCGA-C5-A7UH-01A-11D-A351-09	1:155291885-155291885	G	ENSG00000143627	ENST00000392414	Transcript	missense_variant	1510	1396	466	A/P	Gcc/Ccc	-	IMPACT=MODERATE;SYMBOL=PKLR;BIOTYPE=protein_coding;EXON=10/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9020;TSL=1;APPRIS=A1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1BF-01B-11D-A13W-08	17:7227237-7227237	T	ENSG00000004975	ENST00000005340	Transcript	missense_variant	1679	1396	466	L/M	Ctg/Atg	-	IMPACT=MODERATE;SYMBOL=DVL2;BIOTYPE=protein_coding;EXON=13/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3086;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.986)
TCGA-C5-A1BK-01B-11D-A13W-08	19:57641688-57641688	T	ENSG00000121417	ENST00000299871	Transcript	missense_variant	1528	1397	466	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=ZNF211;BIOTYPE=protein_coding;EXON=5/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13003;TSL=3;APPRIS=P4;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.867)
TCGA-Q1-A6DT-01A-11D-A32I-09	5:176887655-176887655	C	ENSG00000160883	ENST00000292432	Transcript	missense_variant	1488	1396	466	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=HK3;BIOTYPE=protein_coding;EXON=11/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4925;TSL=1;APPRIS=P1
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000375274	Transcript	missense_variant	1542	1397	466	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.98)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:95477650-95477650	A	ENSG00000185920	ENST00000331920	Transcript	missense_variant	1700	1400	467	A/V	gCt/gTt	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.745)
TCGA-DS-A0VN-01A-21D-A10S-08	18:8784515-8784515	C	ENSG00000168502	ENST00000359865	Transcript	missense_variant	1545	1403	468	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MTCL1;BIOTYPE=protein_coding;EXON=6/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29121;TSL=2;APPRIS=P2;SIFT=deleterious(0);PolyPhen=benign(0.279)
TCGA-DS-A0VN-01A-21D-A10S-08	18:8784515-8784515	C	ENSG00000168502	ENST00000400050	Transcript	missense_variant	1495	1403	468	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MTCL1;BIOTYPE=protein_coding;EXON=5/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29121;TSL=5;APPRIS=P2;SIFT=deleterious(0);PolyPhen=benign(0.279)
TCGA-DS-A0VN-01A-21D-A10S-08	18:8784515-8784515	C	ENSG00000168502	ENST00000517570	Transcript	missense_variant	1585	1403	468	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MTCL1;BIOTYPE=protein_coding;EXON=5/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29121;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=benign(0.405)
TCGA-EA-A3HQ-01A-11D-A20U-09	6:7373452-7373452	A	ENSG00000164304	ENST00000512691	Transcript	missense_variant	1510	1403	468	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=CAGE1;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21622;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.948)
TCGA-FU-A3NI-01A-11D-A21Q-09	X:153694354-153694354	A	ENSG00000130821	ENST00000253122	Transcript	missense_variant	1879	1403	468	C/Y	tGc/tAc	-	IMPACT=MODERATE;SYMBOL=SLC6A8;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11055;TSL=1;APPRIS=P1
TCGA-C5-A2LX-01A-11D-A18J-09	19:4512512-4512512	A	ENSG00000167676	ENST00000301286	Transcript	missense_variant	1406	1406	469	G/V	gGc/gTc	-	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=P2;SIFT=tolerated(0.21);PolyPhen=benign(0.308)
TCGA-C5-A3HL-01A-11D-A20U-09	5:79032785-79032785	A	ENSG00000132837	ENST00000255189	Transcript	synonymous_variant	1448	1419	473	G	ggC/ggT	-	IMPACT=LOW;SYMBOL=DMGDH;BIOTYPE=protein_coding;EXON=9/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24475;TSL=1;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	6:28366095-28366095	T	ENSG00000189298	ENST00000252211	Transcript	missense_variant	1643	1427	476	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZKSCAN3;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13853;TSL=1;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.04)
TCGA-IR-A3LI-01A-11D-A20U-09	6:28366095-28366095	T	ENSG00000189298	ENST00000377255	Transcript	missense_variant	1724	1427	476	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ZKSCAN3;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13853;TSL=1;APPRIS=P1;SIFT=tolerated(0.14);PolyPhen=benign(0.04)
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000443826	Transcript	missense_variant	1635	1429	477	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=15/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.934)
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000455444	Transcript	missense_variant	1607	1429	477	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=15/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=5;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.934)
TCGA-EK-A2RK-01A-11D-A18J-09	19:42510919-42510919	C	ENSG00000079385	ENST00000161559	Transcript	splice_region_variant,synonymous_variant	1566	1431	477	T	acC/acG	-	IMPACT=LOW;SYMBOL=CEACAM1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1814;TSL=1;APPRIS=P3
TCGA-JW-A5VJ-01A-11D-A28B-09	9:32485206-32485206	T	ENSG00000107201	ENST00000379883	Transcript	synonymous_variant	1607	1449	483	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=DDX58;BIOTYPE=protein_coding;EXON=10/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19102;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000355312	Transcript	stop_gained	1452	1452	484	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=15/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	12:109947445-109947445	T	ENSG00000139436	ENST00000361006	Transcript	stop_gained	1532	1452	484	Y/*	taT/taA	-	IMPACT=HIGH;SYMBOL=GIT2;BIOTYPE=protein_coding;EXON=15/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4273;TSL=5
TCGA-JX-A3PZ-01A-11D-A21Q-09	16:19051725-19051725	A	ENSG00000170537	ENST00000421369	Transcript	missense_variant	2008	1450	484	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=TMC7;BIOTYPE=protein_coding;EXON=13/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23000;TSL=1;APPRIS=A2;SIFT=tolerated(0.23);PolyPhen=possibly_damaging(0.58)
TCGA-C5-A2LX-01A-11D-A18J-09	19:4512512-4512512	A	ENSG00000167676	ENST00000633942	Transcript	missense_variant	1549	1451	484	G/V	gGc/gTc	-	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=5/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=A2;SIFT=tolerated(0.26);PolyPhen=benign(0.129)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000375274	Transcript	missense_variant	1595	1450	484	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.955)
TCGA-C5-A2LX-01A-11D-A18J-09	16:1370260-1370260	C	ENSG00000059145	ENST00000389221	Transcript	synonymous_variant	1484	1455	485	P	ccC/ccG	-	IMPACT=LOW;SYMBOL=UNKL;BIOTYPE=protein_coding;EXON=12/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14184;TSL=5
TCGA-C5-A2LX-01A-11D-A18J-09	16:1370260-1370260	C	ENSG00000059145	ENST00000508903	Transcript	synonymous_variant	1455	1455	485	P	ccC/ccG	-	IMPACT=LOW;SYMBOL=UNKL;BIOTYPE=protein_coding;EXON=12/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14184;TSL=5;APPRIS=P1
TCGA-C5-A2M1-01A-11D-A18J-09	19:1117401-1117401	T	ENSG00000064932	ENST00000438103	Transcript	synonymous_variant	1479	1455	485	R	cgG/cgA	-	IMPACT=LOW;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=12/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2
TCGA-EK-A2RA-01A-11D-A18J-09	19:15469820-15469820	G	ENSG00000161031	ENST00000292609	Transcript	missense_variant	1583	1453	485	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=PGLYRP2;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30013;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967)
TCGA-EK-A2RA-01A-11D-A18J-09	19:15469820-15469820	G	ENSG00000161031	ENST00000340880	Transcript	missense_variant	1934	1453	485	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=PGLYRP2;BIOTYPE=protein_coding;EXON=4/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30013;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.986)
TCGA-EA-A411-01A-11D-A243-09	9:95477597-95477597	C	ENSG00000185920	ENST00000331920	Transcript	missense_variant	1753	1453	485	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=PTCH1;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9585;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.974)
TCGA-DS-A3LQ-01A-21D-A21Q-09	19:6750600-6750600	T	ENSG00000125733	ENST00000313285	Transcript	synonymous_variant	1538	1456	486	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=13/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1;APPRIS=P1
TCGA-DS-A3LQ-01A-21D-A21Q-09	19:6750600-6750600	T	ENSG00000125733	ENST00000596758	Transcript	synonymous_variant	1456	1456	486	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=13/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1
TCGA-C5-A2LX-01A-11D-A18J-09	9:34263154-34263154	G	ENSG00000186638	ENST00000402558	Transcript	missense_variant	1487	1462	488	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=KIF24;BIOTYPE=protein_coding;EXON=8/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19916;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-EK-A2IP-01A-11D-A17W-09	11:400353-400353	A	ENSG00000184363	ENST00000331563	Transcript	missense_variant	1544	1468	490	Q/K	Cag/Aag	COSM1684985,COSM4822485	IMPACT=MODERATE;SYMBOL=PKP3;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9025;TSL=1;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=possibly_damaging(0.48);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LB-01A-11D-A243-09	5:140802665-140802665	T	ENSG00000255408	ENST00000522353	Transcript	synonymous_variant	1468	1468	490	L	Ctg/Ttg	COSM3409812,COSM3409813	IMPACT=LOW;SYMBOL=PCDHA3;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8669;TSL=1;APPRIS=P2;SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LB-01A-11D-A243-09	5:140802665-140802665	T	ENSG00000255408	ENST00000532566	Transcript	synonymous_variant	1638	1468	490	L	Ctg/Ttg	COSM3409812,COSM3409813	IMPACT=LOW;SYMBOL=PCDHA3;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8669;APPRIS=A2;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1MF-01A-11D-A13W-08	6:26392863-26392863	T	ENSG00000124508	ENST00000356709	Transcript	missense_variant	1579	1468	490	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=BTN2A2;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1137;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.867)
TCGA-C5-A1MF-01A-11D-A13W-08	6:26392863-26392863	T	ENSG00000124508	ENST00000416795	Transcript	missense_variant	1604	1468	490	H/Y	Cac/Tac	-	IMPACT=MODERATE;SYMBOL=BTN2A2;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1137;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.867)
TCGA-DS-A0VN-01A-21D-A10S-08	8:25319603-25319603	A	ENSG00000147459	ENST00000276440	Transcript	missense_variant	1513	1469	490	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=DOCK5;BIOTYPE=protein_coding;EXON=15/52;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23476;TSL=1;APPRIS=P1
TCGA-EA-A3QD-01A-32D-A22X-09	9:3932409-3932409	T	ENSG00000107249	ENST00000324333	Transcript	missense_variant	1663	1469	490	R/K	aGa/aAa	COSM4821769,COSM4821770	IMPACT=MODERATE;SYMBOL=GLIS3;BIOTYPE=protein_coding;EXON=5/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28510;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.858);SOMATIC=1,1;PHENO=1,1
TCGA-UC-A7PF-01A-11D-A351-09	5:5460805-5460805	G	ENSG00000164151	ENST00000296564	Transcript	missense_variant	1693	1471	491	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=ICE1;BIOTYPE=protein_coding;EXON=13/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29154;TSL=1;APPRIS=P2;SIFT=tolerated(0.88);PolyPhen=benign(0.004)
TCGA-C5-A3HD-01B-11D-A20U-09	16:57931755-57931755	T	ENSG00000070729	ENST00000564448	Transcript	missense_variant	1539	1478	493	G/D	gGc/gAc	rs770589962	IMPACT=MODERATE;SYMBOL=CNGB1;BIOTYPE=protein_coding;EXON=17/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2151;TSL=1;APPRIS=A2;ExAC_MAF=C:8.268e-06;ExAC_Adj_MAF=C:8.314e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.501e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000422745	Transcript	missense_variant	1607	1478	493	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000444334	Transcript	missense_variant	1612	1478	493	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049779-13049779	T	ENSG00000101639	ENST00000325971	Transcript	missense_variant	2775	1480	494	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=16/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=A2
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049781-13049781	T	ENSG00000101639	ENST00000325971	Transcript	synonymous_variant	2777	1482	494	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=16/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=A2
TCGA-JW-A852-01A-11D-A351-09	19:3822092-3822092	T	ENSG00000105278	ENST00000262961	Transcript	missense_variant	1491	1480	494	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=ZFR2;BIOTYPE=protein_coding;EXON=9/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29189;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-IR-A3LI-01A-11D-A20U-09	18:724573-724573	A	ENSG00000176105	ENST00000314574	Transcript	stop_gained	1616	1483	495	Q/*	Cag/Tag	COSM79318	IMPACT=HIGH;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-IR-A3LI-01A-11D-A20U-09	18:724573-724573	A	ENSG00000176105	ENST00000584307	Transcript	stop_gained	1654	1483	495	Q/*	Cag/Tag	COSM79318	IMPACT=HIGH;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-BI-A20A-01A-11D-A14W-08	20:25491352-25491352	T	ENSG00000101004	ENST00000278886	Transcript	missense_variant,splice_region_variant	1558	1484	495	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=NINL;BIOTYPE=protein_coding;EXON=11/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29163;TSL=1;APPRIS=P2
TCGA-BI-A20A-01A-11D-A14W-08	20:25491352-25491352	T	ENSG00000101004	ENST00000422516	Transcript	missense_variant,splice_region_variant	1558	1484	495	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=NINL;BIOTYPE=protein_coding;EXON=11/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29163;TSL=1;APPRIS=A2
TCGA-FU-A770-01A-11D-A33O-09	3:49701900-49701900	A	ENSG00000164068	ENST00000327697	Transcript	synonymous_variant	1629	1485	495	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=RNF123;BIOTYPE=protein_coding;EXON=17/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21148;TSL=1;APPRIS=P1
TCGA-FU-A770-01A-11D-A33O-09	3:49701900-49701900	A	ENSG00000164068	ENST00000457726	Transcript	synonymous_variant,NMD_transcript_variant	1584	1485	495	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=RNF123;BIOTYPE=nonsense_mediated_decay;EXON=17/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21148;TSL=1
TCGA-C5-A1BL-01A-11D-A13W-08	9:368025-368025	G	ENSG00000107099	ENST00000453981	Transcript	missense_variant	1584	1483	495	L/V	Ctc/Gtc	COSM4837049,COSM4837050	IMPACT=MODERATE;SYMBOL=DOCK8;BIOTYPE=protein_coding;EXON=14/47;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19191;TSL=5;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.787);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BL-01A-11D-A13W-08	9:368025-368025	G	ENSG00000107099	ENST00000469391	Transcript	missense_variant	1562	1483	495	L/V	Ctc/Gtc	COSM4837049,COSM4837050	IMPACT=MODERATE;SYMBOL=DOCK8;BIOTYPE=protein_coding;EXON=14/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19191;TSL=1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.672);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A7UH-01A-11D-A351-09	1:155291887-155291887	T	ENSG00000143627	ENST00000342741	Transcript	missense_variant	1526	1487	496	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PKLR;BIOTYPE=protein_coding;EXON=10/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9020;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.912)
TCGA-C5-A7UH-01A-11D-A351-09	1:155291885-155291885	G	ENSG00000143627	ENST00000342741	Transcript	missense_variant	1528	1489	497	A/P	Gcc/Ccc	-	IMPACT=MODERATE;SYMBOL=PKLR;BIOTYPE=protein_coding;EXON=10/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9020;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000588361	Transcript	missense_variant	1488	1489	497	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=2
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000588361	Transcript	missense_variant	1488	1489	497	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=2
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000588361	Transcript	missense_variant	1488	1489	497	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=2
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000588361	Transcript	missense_variant	1488	1489	497	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=2
TCGA-DG-A2KK-01A-11D-A17W-09	3:48463769-48463769	T	ENSG00000164053	ENST00000412052	Transcript	synonymous_variant	1953	1491	497	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=ATRIP;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33499;TSL=1;APPRIS=A2
TCGA-EA-A50E-01A-21D-A26G-09	16:23695351-23695351	T	ENSG00000134398	ENST00000457008	Transcript	missense_variant	1532	1493	498	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=ERN2;BIOTYPE=protein_coding;EXON=14/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16942;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A3HD-01B-11D-A20U-09	16:57931755-57931755	T	ENSG00000070729	ENST00000251102	Transcript	missense_variant	1557	1496	499	G/D	gGc/gAc	rs770589962	IMPACT=MODERATE;SYMBOL=CNGB1;BIOTYPE=protein_coding;EXON=17/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2151;TSL=1;APPRIS=P3;ExAC_MAF=C:8.268e-06;ExAC_Adj_MAF=C:8.314e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.501e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2R7-01A-11D-A18J-09	9:33922757-33922757	C	ENSG00000137073	ENST00000539807	Transcript	missense_variant	1609	1496	499	P/R	cCa/cGa	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=19/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;SIFT=deleterious(0);PolyPhen=unknown(0)
TCGA-IR-A3LI-01A-11D-A20U-09	18:724573-724573	A	ENSG00000176105	ENST00000577961	Transcript	stop_gained	1569	1498	500	Q/*	Cag/Tag	COSM79318	IMPACT=HIGH;SYMBOL=YES1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12841;TSL=5;SOMATIC=1;PHENO=1
TCGA-EA-A5ZF-01A-11D-A28B-09	19:4816382-4816382	T	ENSG00000127666	ENST00000621756	Transcript	missense_variant	1503	1498	500	P/T	Ccc/Acc	rs11466724	IMPACT=MODERATE;SYMBOL=TICAM1;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18348;TSL=5;APPRIS=A2;SIFT=tolerated(0.27);PolyPhen=benign(0.277)
TCGA-C5-A3HE-01A-21D-A22X-09	9:34725742-34725742	C	ENSG00000205108	ENST00000378788	Transcript	missense_variant	1538	1498	500	T/A	Act/Gct	-	IMPACT=MODERATE;SYMBOL=FAM205A;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:41911;TSL=2;APPRIS=P1;SIFT=tolerated(0.36);PolyPhen=benign(0.022)
TCGA-DG-A2KL-01A-11D-A17W-09	9:34257704-34257704	G	ENSG00000186638	ENST00000379174	Transcript	missense_variant	1526	1501	501	G/R	Ggg/Cgg	-	IMPACT=MODERATE;SYMBOL=KIF24;BIOTYPE=protein_coding;EXON=7/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19916;TSL=5;SIFT=deleterious(0.02);PolyPhen=benign(0.001)
TCGA-Q1-A73R-01A-11D-A33O-09	9:36222893-36222893	A	ENSG00000159921	ENST00000543356	Transcript	missense_variant	1502	1502	501	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=8/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.386)
TCGA-IR-A3LI-01A-11D-A20U-09	19:12758053-12758053	G	ENSG00000039987	ENST00000042931	Transcript	synonymous_variant	1506	1506	502	G	ggT/ggG	-	IMPACT=LOW;SYMBOL=BEST2;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17107;TSL=1;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	19:12758053-12758053	G	ENSG00000039987	ENST00000549706	Transcript	synonymous_variant	1830	1506	502	G	ggT/ggG	-	IMPACT=LOW;SYMBOL=BEST2;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17107;TSL=5;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	19:12758053-12758053	G	ENSG00000039987	ENST00000553030	Transcript	synonymous_variant	1595	1506	502	G	ggT/ggG	-	IMPACT=LOW;SYMBOL=BEST2;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17107;TSL=5;APPRIS=P1
TCGA-MU-A5YI-01A-11D-A32I-09	9:19360377-19360377	A	ENSG00000137145	ENST00000361024	Transcript	missense_variant	1508	1508	503	T/N	aCt/aAt	rs201852236	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=7/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=1;GMAF=G:0.0002;AFR_MAF=G:0.0000;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0010;SAS_MAF=G:0.0000;AA_MAF=G:0.0002;EA_MAF=G:0;ExAC_MAF=G:2.471e-05;ExAC_Adj_MAF=G:2.471e-05;ExAC_AFR_MAF=G:9.612e-05;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:2.997e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:32542823-32542823	C	ENSG00000197579	ENST00000379858	Transcript	missense_variant	1624	1507	503	L/V	Ctg/Gtg	rs749341788	IMPACT=MODERATE;SYMBOL=TOPORS;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21653;TSL=1;APPRIS=A2;SIFT=tolerated(0.83);PolyPhen=benign(0.084);ExAC_MAF=G:4.118e-05;ExAC_Adj_MAF=G:4.121e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0.0003029
TCGA-EA-A3QE-01A-21D-A21Q-09	9:39149948-39149948	T	ENSG00000106714	ENST00000297668	Transcript	missense_variant	1581	1507	503	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=10/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.995)
TCGA-EA-A3QE-01A-21D-A21Q-09	9:39149948-39149948	T	ENSG00000106714	ENST00000377656	Transcript	missense_variant	1746	1507	503	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=10/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.944)
TCGA-EA-A3QE-01A-21D-A21Q-09	9:39149948-39149948	T	ENSG00000106714	ENST00000377659	Transcript	missense_variant	1746	1507	503	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=CNTNAP3;BIOTYPE=protein_coding;EXON=10/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13834;TSL=2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.944)
TCGA-IR-A3LI-01A-11D-A20U-09	19:5786512-5786512	A	ENSG00000141994	ENST00000309061	Transcript	missense_variant	1614	1517	506	D/V	gAc/gTc	rs867637855	IMPACT=MODERATE;SYMBOL=DUS3L;BIOTYPE=protein_coding;EXON=10/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26920;TSL=1;APPRIS=P3;SIFT=tolerated(0.13);PolyPhen=possibly_damaging(0.507)
TCGA-Q1-A73R-01A-11D-A33O-09	9:36222893-36222893	A	ENSG00000159921	ENST00000377902	Transcript	missense_variant	1738	1517	506	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=9/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.424)
TCGA-Q1-A73R-01A-11D-A33O-09	9:36222893-36222893	A	ENSG00000159921	ENST00000539815	Transcript	missense_variant	1558	1517	506	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=8/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.424)
TCGA-Q1-A5R2-01A-11D-A28B-09	12:53431271-53431271	G	ENSG00000135409	ENST00000257863	Transcript	missense_variant	1600	1520	507	A/G	gCc/gGc	-	IMPACT=MODERATE;SYMBOL=AMHR2;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:465;TSL=1;APPRIS=P3;SIFT=tolerated(0.16);PolyPhen=benign(0.176)
TCGA-C5-A2M2-01A-21D-A18J-09	18:12463427-12463427	A	ENSG00000134278	ENST00000410092	Transcript	missense_variant	1699	1520	507	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=SPIRE1;BIOTYPE=protein_coding;EXON=11/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30622;TSL=1;APPRIS=P3;SIFT=tolerated(0.17);PolyPhen=probably_damaging(0.999)
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049779-13049779	T	ENSG00000101639	ENST00000511820	Transcript	missense_variant	1521	1522	508	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=7/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1;APPRIS=A2
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049781-13049781	T	ENSG00000101639	ENST00000511820	Transcript	synonymous_variant	1523	1524	508	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=7/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1;APPRIS=A2
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000543365	Transcript	missense_variant	1590	1522	508	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=14/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=2;APPRIS=A2;SIFT=tolerated(0.16);PolyPhen=benign(0.024)
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000396597	Transcript	missense_variant	1629	1532	511	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=13/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=2
TCGA-EA-A3HQ-01A-11D-A20U-09	6:47682098-47682098	T	ENSG00000164393	ENST00000296862	Transcript	synonymous_variant	1539	1539	513	T	acG/acT	-	IMPACT=LOW;SYMBOL=ADGRF2;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18991;TSL=1;APPRIS=P5
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000299606	Transcript	missense_variant	1602	1541	514	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=13/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=5
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000175506	Transcript	missense_variant	2070	1541	514	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=14/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000394308	Transcript	missense_variant	1721	1541	514	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-IR-A3LL-01A-11D-A20U-09	7:97852404-97852404	G	ENSG00000070669	ENST00000394309	Transcript	missense_variant	2013	1541	514	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=ASNS;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:753;TSL=2;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.899)
TCGA-EK-A2H0-01A-11D-A17W-09	19:4216286-4216286	A	ENSG00000089847	ENST00000262970	Transcript	missense_variant,splice_region_variant	1543	1543	515	A/T	Gcc/Acc	rs35197554	IMPACT=MODERATE;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=15/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=A2;SIFT=tolerated(0.13);PolyPhen=possibly_damaging(0.682)
TCGA-EK-A2RA-01A-11D-A18J-09	9:35548064-35548064	T	ENSG00000198853	ENST00000361226	Transcript	stop_gained	1681	1543	515	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1
TCGA-EK-A2RA-01A-11D-A18J-09	9:35548064-35548064	T	ENSG00000198853	ENST00000455600	Transcript	stop_gained	2112	1543	515	Q/*	Caa/Taa	-	IMPACT=HIGH;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1
TCGA-DS-A7WH-01A-22D-A351-09	5:140870650-140870650	T	ENSG00000249158	ENST00000398640	Transcript	missense_variant	2405	1547	516	G/V	gGg/gTg	-	IMPACT=MODERATE;SYMBOL=PCDHA11;BIOTYPE=protein_coding;EXON=1/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8665;TSL=1;APPRIS=P3
TCGA-DS-A7WH-01A-22D-A351-09	5:140870650-140870650	T	ENSG00000249158	ENST00000616325	Transcript	missense_variant	2468	1547	516	G/V	gGg/gTg	-	IMPACT=MODERATE;SYMBOL=PCDHA11;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8665;APPRIS=A2
TCGA-EK-A2PM-01A-11D-A18J-09	18:13049854-13049854	G	ENSG00000101639	ENST00000325971	Transcript	missense_variant	2850	1555	519	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=16/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.929)
TCGA-C5-A2LS-01A-22D-A22X-09	7:44113614-44113615	-	ENSG00000106624	ENST00000450684	Transcript	frameshift_variant	1624	1556	519	R/X	cGa/ca	COSM3881198	IMPACT=HIGH;SYMBOL=AEBP1;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:303;TSL=2;SOMATIC=1;PHENO=1
TCGA-C5-A2M2-01A-21D-A18J-09	18:12463427-12463427	A	ENSG00000134278	ENST00000409402	Transcript	missense_variant	1830	1562	521	P/L	cCa/cTa	-	IMPACT=MODERATE;SYMBOL=SPIRE1;BIOTYPE=protein_coding;EXON=12/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30622;TSL=1;APPRIS=A2;SIFT=tolerated(0.17);PolyPhen=probably_damaging(0.999)
TCGA-IR-A3LL-01A-11D-A20U-09	19:5696116-5696116	G	ENSG00000196365	ENST00000590729	Transcript	missense_variant	1620	1561	521	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=13/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-JX-A5QV-01A-22D-A28B-09	5:11199587-11199587	G	ENSG00000169862	ENST00000511377	Transcript	synonymous_variant	1936	1563	521	A	gcG/gcC	rs771023998	IMPACT=LOW;SYMBOL=CTNND2;BIOTYPE=protein_coding;EXON=10/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2516;TSL=1;APPRIS=A2;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.237e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.498e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-C5-A2LX-01A-11D-A18J-09	17:8108585-8108585	T	ENSG00000179148	ENST00000448843	Transcript	missense_variant	1908	1567	523	L/I	Ctc/Atc	-	IMPACT=MODERATE;SYMBOL=ALOXE3;BIOTYPE=protein_coding;EXON=13/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13743;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.863)
TCGA-EA-A5FO-01A-21D-A28B-09	18:334982-334982	T	ENSG00000158270	ENST00000400256	Transcript	missense_variant	1784	1576	526	P/T	Cca/Aca	COSM4674120	IMPACT=MODERATE;SYMBOL=COLEC12;BIOTYPE=protein_coding;EXON=6/10;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16016;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=unknown(0);SOMATIC=1;PHENO=1
TCGA-EA-A411-01A-11D-A243-09	12:4764034-4764034	C	ENSG00000130035	ENST00000252318	Transcript	missense_variant	1917	1580	527	E/A	gAa/gCa	-	IMPACT=MODERATE;SYMBOL=GALNT8;BIOTYPE=protein_coding;EXON=9/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4130;TSL=1;APPRIS=P1;SIFT=tolerated(0.7);PolyPhen=benign(0.002)
TCGA-JW-A5VG-01A-11D-A28B-09	1:183542373-183542373	A	ENSG00000116698	ENST00000508461	Transcript	missense_variant	1802	1587	529	S/R	agT/agA	-	IMPACT=MODERATE;SYMBOL=SMG7;BIOTYPE=protein_coding;EXON=13/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16792;TSL=2;APPRIS=A2
TCGA-C5-A1MH-01A-11D-A14W-08	19:2813158-2813158	C	ENSG00000172009	ENST00000586677	Transcript	missense_variant	1648	1589	530	C/S	tGc/tCc	rs757865226	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=2;ExAC_MAF=-:8.269e-06;ExAC_Adj_MAF=-:9.903e-06;ExAC_AFR_MAF=-:0;ExAC_AMR_MAF=-:9.899e-05;ExAC_EAS_MAF=-:0;ExAC_FIN_MAF=-:0;ExAC_NFE_MAF=-:0;ExAC_OTH_MAF=-:0;ExAC_SAS_MAF=-:0
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000545076	Transcript	missense_variant	2129	1592	531	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=17/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=2;APPRIS=A2;SIFT=tolerated_low_confidence(0.39);PolyPhen=benign(0);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000540670	Transcript	missense_variant	2105	1592	531	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=15/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.873)
TCGA-EA-A43B-01A-81D-A243-09	17:18250855-18250855	A	ENSG00000177731	ENST00000545457	Transcript	missense_variant	1627	1594	532	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=FLII;BIOTYPE=protein_coding;EXON=13/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3750;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A2M1-01A-11D-A18J-09	19:1117401-1117401	T	ENSG00000064932	ENST00000587024	Transcript	synonymous_variant	1807	1596	532	R	cgG/cgA	-	IMPACT=LOW;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=15/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=2;APPRIS=A2
TCGA-EK-A2PM-01A-11D-A18J-09	18:13049854-13049854	G	ENSG00000101639	ENST00000511820	Transcript	missense_variant	1596	1597	533	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=7/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.929)
TCGA-FU-A40J-01A-11D-A243-09	2:233527528-233527528	A	ENSG00000085982	ENST00000251722	Transcript	missense_variant	1719	1601	534	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=USP40;BIOTYPE=protein_coding;EXON=13/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20069;TSL=5;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.758)
TCGA-FU-A40J-01A-11D-A243-09	2:233527528-233527528	A	ENSG00000085982	ENST00000427112	Transcript	missense_variant	1637	1601	534	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=USP40;BIOTYPE=protein_coding;EXON=12/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20069;TSL=1;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.758)
TCGA-IR-A3LL-01A-11D-A20U-09	19:5696116-5696116	G	ENSG00000196365	ENST00000585374	Transcript	missense_variant	1756	1609	537	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=14/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-Q1-A73R-01A-11D-A33O-09	9:36222893-36222893	A	ENSG00000159921	ENST00000396594	Transcript	missense_variant	1722	1610	537	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=GNE;BIOTYPE=protein_coding;EXON=9/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23657;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.299)
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000396604	Transcript	missense_variant	1963	1622	541	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=14/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=5;APPRIS=A1
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000530463	Transcript	missense_variant	1730	1622	541	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=14/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=1;APPRIS=A1
TCGA-LP-A5U2-01A-11D-A28B-09	18:9533746-9533746	T	ENSG00000017797	ENST00000019317	Transcript	stop_gained	1844	1621	541	E/*	Gag/Tag	-	IMPACT=HIGH;SYMBOL=RALBP1;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9841;TSL=1;APPRIS=P1
TCGA-LP-A5U2-01A-11D-A28B-09	18:9533746-9533746	T	ENSG00000017797	ENST00000383432	Transcript	stop_gained	1698	1621	541	E/*	Gag/Tag	-	IMPACT=HIGH;SYMBOL=RALBP1;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9841;TSL=1;APPRIS=P1
TCGA-EK-A2PM-01A-11D-A18J-09	11:9516301-9516301	T	ENSG00000166478	ENST00000396602	Transcript	missense_variant	1744	1625	542	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=ZNF143;BIOTYPE=protein_coding;EXON=14/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12928;TSL=1;APPRIS=P3
TCGA-C5-A2M1-01A-11D-A18J-09	19:1117401-1117401	T	ENSG00000064932	ENST00000361757	Transcript	synonymous_variant	1864	1626	542	R	cgG/cgA	-	IMPACT=LOW;SYMBOL=SBNO2;BIOTYPE=protein_coding;EXON=15/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29158;TSL=1;APPRIS=P4
TCGA-DS-A3LQ-01A-21D-A21Q-09	19:6750600-6750600	T	ENSG00000125733	ENST00000313244	Transcript	synonymous_variant	1659	1624	542	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=TRIP10;BIOTYPE=protein_coding;EXON=14/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12304;TSL=1
TCGA-FU-A23L-01A-11D-A16O-08	6:16326687-16326687	T	ENSG00000124788	ENST00000244769	Transcript	missense_variant	2561	1624	542	A/T	Gcc/Acc	rs761352217	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=8/9;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1;SIFT=tolerated(0.39);PolyPhen=benign(0.004);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.278e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.507e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-FU-A23L-01A-11D-A16O-08	6:16326687-16326687	T	ENSG00000124788	ENST00000436367	Transcript	missense_variant	2546	1624	542	A/T	Gcc/Acc	rs761352217	IMPACT=MODERATE;SYMBOL=ATXN1;BIOTYPE=protein_coding;EXON=7/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10548;TSL=1;APPRIS=P1;SIFT=tolerated(0.39);PolyPhen=benign(0.004);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.278e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.507e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-RA-A741-01A-11D-A33O-09	9:20929595-20929595	T	ENSG00000188352	ENST00000605086	Transcript	missense_variant,splice_region_variant	1786	1624	542	G/C	Ggt/Tgt	-	IMPACT=MODERATE;SYMBOL=FOCAD;BIOTYPE=protein_coding;EXON=15/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23377;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991)
TCGA-FU-A2QG-01A-11D-A18J-09	9:35548154-35548154	A	ENSG00000198853	ENST00000361226	Transcript	missense_variant	1771	1633	545	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-FU-A2QG-01A-11D-A18J-09	9:35548154-35548154	A	ENSG00000198853	ENST00000455600	Transcript	missense_variant	2202	1633	545	A/T	Gcc/Acc	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=2/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.995)
TCGA-FU-A40J-01A-11D-A243-09	2:233527528-233527528	A	ENSG00000085982	ENST00000450966	Transcript	missense_variant	1637	1637	546	A/V	gCc/gTc	-	IMPACT=MODERATE;SYMBOL=USP40;BIOTYPE=protein_coding;EXON=12/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20069;TSL=1;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.9)
TCGA-EA-A3QD-01A-32D-A22X-09	4:30723058-30723058	A	ENSG00000169851	ENST00000361762	Transcript	missense_variant	2644	1636	546	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PCDH7;BIOTYPE=protein_coding;EXON=1/2;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8659;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-EA-A3QD-01A-32D-A22X-09	4:30723058-30723058	A	ENSG00000169851	ENST00000543491	Transcript	missense_variant	2206	1636	546	E/K	Gag/Aag	-	IMPACT=MODERATE;SYMBOL=PCDH7;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8659;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-IR-A3LL-01A-11D-A20U-09	6:12121433-12121433	A	ENSG00000095951	ENST00000379388	Transcript	synonymous_variant	1970	1638	546	L	ttG/ttA	COSM4918017	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=1;APPRIS=P2;SOMATIC=1;PHENO=1
TCGA-IR-A3LL-01A-11D-A20U-09	6:12121433-12121433	A	ENSG00000095951	ENST00000541134	Transcript	synonymous_variant	1970	1638	546	L	ttG/ttA	COSM4918017	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=5;APPRIS=A2;SOMATIC=1;PHENO=1
TCGA-Q1-A5R2-01A-11D-A28B-09	9:33922521-33922521	A	ENSG00000137073	ENST00000539807	Transcript	missense_variant	1750	1637	546	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=22/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0)
TCGA-EA-A3HQ-01A-11D-A20U-09	1:158669736-158669736	T	ENSG00000163554	ENST00000368147	Transcript	synonymous_variant	1831	1650	550	S	tcG/tcA	rs759124173	IMPACT=LOW;SYMBOL=SPTA1;BIOTYPE=protein_coding;EXON=13/52;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11272;TSL=1;APPRIS=P1;ExAC_MAF=C:8.274e-06;ExAC_Adj_MAF=C:8.281e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.498e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EA-A50E-01A-21D-A26G-09	16:23695351-23695351	T	ENSG00000134398	ENST00000256797	Transcript	missense_variant	1962	1649	550	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=ERN2;BIOTYPE=protein_coding;EXON=15/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16942;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2PI-01A-11D-A18J-09	18:6912104-6912104	A	ENSG00000088756	ENST00000531294	Transcript	missense_variant	1860	1648	550	G/S	Ggt/Agt	COSM1710954	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=17/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=5;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=benign(0.09);SOMATIC=1;PHENO=1
TCGA-DG-A2KK-01A-11D-A17W-09	6:100391006-100391006	T	ENSG00000112246	ENST00000262901	Transcript	synonymous_variant	1865	1656	552	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=SIM1;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10882;TSL=1;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	6:100391006-100391006	T	ENSG00000112246	ENST00000369208	Transcript	synonymous_variant	2439	1656	552	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=SIM1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10882;TSL=1;APPRIS=P1
TCGA-EK-A2PI-01A-11D-A18J-09	18:6912104-6912104	A	ENSG00000088756	ENST00000314319	Transcript	missense_variant	1819	1663	555	G/S	Ggt/Agt	COSM1710954	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=16/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=benign(0.233);SOMATIC=1;PHENO=1
TCGA-EK-A2PI-01A-11D-A18J-09	18:6912104-6912104	A	ENSG00000088756	ENST00000419673	Transcript	missense_variant	1880	1663	555	G/S	Ggt/Agt	COSM1710954	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=17/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=benign(0.233);SOMATIC=1;PHENO=1
TCGA-Q1-A5R3-01A-11D-A28B-09	1:155287807-155287807	G	ENSG00000143630	ENST00000368358	Transcript	missense_variant	1677	1669	557	Q/E	Cag/Gag	-	IMPACT=MODERATE;SYMBOL=HCN3;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19183;TSL=1;APPRIS=P1;SIFT=tolerated(0.07);PolyPhen=benign(0.046)
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000432292	Transcript	missense_variant	2455	1684	562	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=2
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000624204	Transcript	missense_variant	2638	1684	562	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=9/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=2
TCGA-C5-A1BL-01A-11D-A13W-08	9:368025-368025	G	ENSG00000107099	ENST00000432829	Transcript	missense_variant	1799	1687	563	L/V	Ctc/Gtc	COSM4837049,COSM4837050	IMPACT=MODERATE;SYMBOL=DOCK8;BIOTYPE=protein_coding;EXON=15/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19191;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.787);SOMATIC=1,1;PHENO=1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000397606	Transcript	missense_variant	1738	1687	563	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=10/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.9);PolyPhen=benign(0);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000397617	Transcript	missense_variant	1790	1687	563	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=10/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.87);PolyPhen=benign(0.004);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EX-A69L-01A-11D-A32I-09	17:40133891-40133891	T	ENSG00000188895	ENST00000578648	Transcript	synonymous_variant	1727	1698	566	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=MSL1;BIOTYPE=protein_coding;EXON=7/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27905;TSL=5
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000537002	Transcript	missense_variant	1805	1699	567	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=11/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.89);PolyPhen=benign(0);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A2RK-01A-11D-A18J-09	9:32542823-32542823	C	ENSG00000197579	ENST00000360538	Transcript	missense_variant	1819	1702	568	L/V	Ctg/Gtg	rs749341788	IMPACT=MODERATE;SYMBOL=TOPORS;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21653;TSL=1;APPRIS=P3;SIFT=tolerated(0.77);PolyPhen=benign(0.018);ExAC_MAF=G:4.118e-05;ExAC_Adj_MAF=G:4.121e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0.0003029
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049779-13049779	T	ENSG00000101639	ENST00000510237	Transcript	missense_variant,NMD_transcript_variant	1705	1705	569	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=nonsense_mediated_decay;EXON=8/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049781-13049781	T	ENSG00000101639	ENST00000510237	Transcript	synonymous_variant,NMD_transcript_variant	1707	1707	569	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=nonsense_mediated_decay;EXON=8/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000397611	Transcript	missense_variant	1814	1708	570	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=11/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.88);PolyPhen=benign(0);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-JW-A5VG-01A-11D-A28B-09	1:183542373-183542373	A	ENSG00000116698	ENST00000347615	Transcript	missense_variant	1832	1713	571	S/R	agT/agA	-	IMPACT=MODERATE;SYMBOL=SMG7;BIOTYPE=protein_coding;EXON=14/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16792;TSL=1;APPRIS=P3
TCGA-IR-A3LL-01A-11D-A20U-09	9:27203064-27203064	A	ENSG00000120156	ENST00000519097	Transcript	missense_variant	2163	1713	571	M/I	atG/atA	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=11/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-DS-A5RQ-01A-11D-A28B-09	6:15501191-15501191	A	ENSG00000008083	ENST00000397311	Transcript	missense_variant	2295	1714	572	D/N	Gac/Aac	rs142763537	IMPACT=MODERATE;SYMBOL=JARID2;BIOTYPE=protein_coding;EXON=8/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6196;TSL=2;APPRIS=A2;SIFT=tolerated(0.46);PolyPhen=benign(0.079);GMAF=A:0.0014;AFR_MAF=A:0.0000;AMR_MAF=A:0.0029;EAS_MAF=A:0.0000;EUR_MAF=A:0.0050;SAS_MAF=A:0.0000;AA_MAF=A:0.0014;EA_MAF=A:0.0028
TCGA-JW-A69B-01A-11D-A32I-09	7:100959676-100959676	T	ENSG00000169894	ENST00000414964	Transcript	missense_variant,NMD_transcript_variant	1712	1714	572	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=MUC3A;BIOTYPE=nonsense_mediated_decay;EXON=1/10;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7513;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.777)
TCGA-C5-A1MJ-01A-11D-A14W-08	22:50217002-50217002	A	ENSG00000073169	ENST00000380903	Transcript	synonymous_variant	1777	1719	573	A	gcG/gcA	rs752402604	IMPACT=LOW;SYMBOL=SELO;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=EntrezGene;TSL=1;APPRIS=P2;ExAC_MAF=C:8.256e-06;ExAC_Adj_MAF=C:8.65e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.803e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-C5-A1MJ-01A-11D-A14W-08	22:50217002-50217002	A	ENSG00000073169	ENST00000611222	Transcript	synonymous_variant	1777	1719	573	A	gcG/gcA	rs752402604	IMPACT=LOW;SYMBOL=SELO;BIOTYPE=protein_coding;EXON=8/10;STRAND=1;SYMBOL_SOURCE=EntrezGene;TSL=5;APPRIS=A2;ExAC_MAF=C:8.256e-06;ExAC_Adj_MAF=C:8.65e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:8.803e-05;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000355233	Transcript	missense_variant	1820	1717	573	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.88);PolyPhen=benign(0.01);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000356435	Transcript	missense_variant	1823	1717	573	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=probably_damaging(0.981);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000381196	Transcript	missense_variant	2261	1717	573	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=20/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=probably_damaging(0.981);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000486161	Transcript	missense_variant	1768	1717	573	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.88);PolyPhen=benign(0.007);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-MU-A5YI-01A-11D-A32I-09	9:8504366-8504366	T	ENSG00000153707	ENST00000540109	Transcript	missense_variant	1823	1717	573	Q/K	Caa/Aaa	COSM4855232,COSM4855233,COSM4855234,COSM4855235,COSM4855236,COSM4855237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=probably_damaging(0.981);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EA-A43B-01A-81D-A243-09	17:18250855-18250855	A	ENSG00000177731	ENST00000579294	Transcript	missense_variant	1806	1726	576	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=FLII;BIOTYPE=protein_coding;EXON=14/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3750;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-Q1-A73Q-01A-21D-A32I-09	9:27203078-27203078	T	ENSG00000120156	ENST00000519097	Transcript	missense_variant	2177	1727	576	R/L	cGa/cTa	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=11/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.529)
TCGA-EX-A69L-01A-11D-A32I-09	11:113813893-113813893	T	ENSG00000048028	ENST00000003302	Transcript	missense_variant	1804	1735	579	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=USP28;BIOTYPE=protein_coding;EXON=15/25;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12625;TSL=1;APPRIS=P1;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.654)
TCGA-EX-A69L-01A-11D-A32I-09	11:113813893-113813893	T	ENSG00000048028	ENST00000537706	Transcript	missense_variant	1762	1735	579	L/I	Ctt/Att	-	IMPACT=MODERATE;SYMBOL=USP28;BIOTYPE=protein_coding;EXON=15/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12625;TSL=1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.998)
TCGA-EX-A69L-01A-11D-A32I-09	17:40133891-40133891	T	ENSG00000188895	ENST00000398532	Transcript	synonymous_variant	2061	1746	582	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=MSL1;BIOTYPE=protein_coding;EXON=8/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27905;TSL=1
TCGA-JW-A5VJ-01A-11D-A28B-09	19:2290031-2290031	T	ENSG00000220008	ENST00000585527	Transcript	synonymous_variant	1994	1746	582	G	ggG/ggA	-	IMPACT=LOW;SYMBOL=LINGO3;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21206;APPRIS=P1
TCGA-EK-A2RJ-01A-11D-A18J-09	5:31317953-31317953	A	ENSG00000113361	ENST00000514738	Transcript	synonymous_variant	2176	1746	582	L	ctG/ctA	rs754093237	IMPACT=LOW;SYMBOL=CDH6;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1765;TSL=1
TCGA-C5-A1MH-01A-11D-A14W-08	6:100390912-100390912	A	ENSG00000112246	ENST00000262901	Transcript	synonymous_variant	1959	1750	584	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=SIM1;BIOTYPE=protein_coding;EXON=11/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10882;TSL=1;APPRIS=P1
TCGA-C5-A1MH-01A-11D-A14W-08	6:100390912-100390912	A	ENSG00000112246	ENST00000369208	Transcript	synonymous_variant	2533	1750	584	L	Cta/Tta	-	IMPACT=LOW;SYMBOL=SIM1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10882;TSL=1;APPRIS=P1
TCGA-EA-A43B-01A-81D-A243-09	17:18250855-18250855	A	ENSG00000177731	ENST00000578558	Transcript	missense_variant	1792	1756	586	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=FLII;BIOTYPE=protein_coding;EXON=14/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3750;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-EA-A43B-01A-81D-A243-09	17:18250855-18250855	A	ENSG00000177731	ENST00000327031	Transcript	missense_variant	1985	1759	587	G/C	Ggc/Tgc	-	IMPACT=MODERATE;SYMBOL=FLII;BIOTYPE=protein_coding;EXON=14/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3750;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-IR-A3LL-01A-11D-A20U-09	19:5696116-5696116	G	ENSG00000196365	ENST00000593119	Transcript	missense_variant	1792	1759	587	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=14/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-DG-A2KK-01A-11D-A17W-09	3:48463769-48463769	T	ENSG00000164053	ENST00000320211	Transcript	synonymous_variant	1883	1770	590	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=ATRIP;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33499;TSL=1;APPRIS=P4
TCGA-DG-A2KK-01A-11D-A17W-09	3:48463769-48463769	T	ENSG00000164053	ENST00000346691	Transcript	synonymous_variant	1883	1770	590	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=ATRIP;BIOTYPE=protein_coding;EXON=9/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33499;TSL=1;APPRIS=A2
TCGA-C5-A1MN-01A-11D-A14W-08	5:10415612-10415612	A	ENSG00000145495	ENST00000503788	Transcript	synonymous_variant	1959	1776	592	A	gcG/gcA	rs745995955	IMPACT=LOW;SYMBOL=MARCH6;BIOTYPE=protein_coding;EXON=18/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30550;TSL=2;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.241e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.499e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000357703	Transcript	missense_variant	1785	1774	592	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.997)
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000378495	Transcript	missense_variant	1996	1774	592	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=15/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;APPRIS=P2
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000619578	Transcript	missense_variant	2066	1774	592	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=15/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;APPRIS=A2
TCGA-JX-A3PZ-01A-11D-A21Q-09	16:19051725-19051725	A	ENSG00000170537	ENST00000304381	Transcript	missense_variant	1910	1780	594	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=TMC7;BIOTYPE=protein_coding;EXON=13/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23000;TSL=1;APPRIS=P3;SIFT=tolerated(0.22);PolyPhen=possibly_damaging(0.58)
TCGA-JX-A3PZ-01A-11D-A21Q-09	16:19051725-19051725	A	ENSG00000170537	ENST00000569532	Transcript	missense_variant	1910	1780	594	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=TMC7;BIOTYPE=protein_coding;EXON=13/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23000;TSL=2;SIFT=tolerated(0.22);PolyPhen=possibly_damaging(0.721)
TCGA-EK-A2PM-01A-11D-A18J-09	18:13049854-13049854	G	ENSG00000101639	ENST00000510237	Transcript	missense_variant,NMD_transcript_variant	1780	1780	594	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=nonsense_mediated_decay;EXON=8/35;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.884)
TCGA-LP-A4AW-01A-11D-A243-09	19:759915-759915	A	ENSG00000099812	ENST00000215582	Transcript	missense_variant	1890	1787	596	T/K	aCg/aAg	COSM4829647	IMPACT=MODERATE;SYMBOL=MISP;BIOTYPE=protein_coding;EXON=3/5;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27000;TSL=1;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.021);SOMATIC=1;PHENO=1
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000590729	Transcript	missense_variant	1849	1790	597	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=15/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.923)
TCGA-EA-A50E-01A-21D-A26G-09	16:23695351-23695351	T	ENSG00000134398	ENST00000634482	Transcript	missense_variant	1962	1793	598	R/H	cGc/cAc	-	IMPACT=MODERATE;SYMBOL=ERN2;BIOTYPE=protein_coding;EXON=15/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16942;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000262953	Transcript	missense_variant	2058	1795	599	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=17/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=1;APPRIS=P3;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.836)
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000590536	Transcript	missense_variant	1907	1798	600	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=17/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=1;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.718)
TCGA-EA-A3HT-01A-61D-A21Q-09	19:3978083-3978083	A	ENSG00000167658	ENST00000309311	Transcript	synonymous_variant	1892	1803	601	R	cgC/cgT	-	IMPACT=LOW;SYMBOL=EEF2;BIOTYPE=protein_coding;EXON=12/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3214;TSL=5;APPRIS=P1
TCGA-EA-A439-01A-11D-A243-09	22:18609626-18609626	G	ENSG00000275793	ENST00000619918	Transcript	synonymous_variant	2294	1809	603	T	acG/acC	-	IMPACT=LOW;SYMBOL=RIMBP3;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29344;APPRIS=P1
TCGA-FU-A57G-01A-11D-A26G-09	5:45262787-45262787	T	ENSG00000164588	ENST00000303230	Transcript	missense_variant	2048	1807	603	E/K	Gaa/Aaa	COSM4599327	IMPACT=MODERATE;SYMBOL=HCN1;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4845;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=benign(0.281);SOMATIC=1;PHENO=1
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000396787	Transcript	missense_variant	2092	1810	604	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=16/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=5;APPRIS=A2
TCGA-C5-A1BN-01B-11D-A14W-08	19:1555705-1555705	T	ENSG00000181588	ENST00000402693	Transcript	missense_variant	1814	1814	605	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=MEX3D;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16734;TSL=1;APPRIS=P2
TCGA-EK-A2RN-01A-12D-A20U-09	18:2738531-2738531	T	ENSG00000101596	ENST00000577880	Transcript	synonymous_variant,NMD_transcript_variant	1824	1824	608	S	agC/agT	-	IMPACT=LOW;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=15/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2
TCGA-C5-A1MH-01A-11D-A14W-08	18:2616481-2616481	C	ENSG00000080986	ENST00000261597	Transcript	missense_variant	2018	1836	612	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=17/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=1;APPRIS=P1;SIFT=tolerated(0.09);PolyPhen=benign(0.11)
TCGA-JX-A5QV-01A-22D-A28B-09	5:11199587-11199587	G	ENSG00000169862	ENST00000304623	Transcript	synonymous_variant	2026	1836	612	A	gcG/gcC	rs771023998	IMPACT=LOW;SYMBOL=CTNND2;BIOTYPE=protein_coding;EXON=11/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2516;TSL=1;APPRIS=P3;ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.237e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:1.498e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-FU-A3NI-01A-11D-A21Q-09	11:117387317-117387317	A	ENSG00000110274	ENST00000278935	Transcript	synonymous_variant	1986	1839	613	S	tcG/tcA	rs754944303	IMPACT=LOW;SYMBOL=CEP164;BIOTYPE=protein_coding;EXON=15/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29182;TSL=1;APPRIS=P2;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.275e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.506e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000426948	Transcript	missense_variant	1837	1837	613	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=17/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=5;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.938)
TCGA-C5-A7UH-01A-11D-A351-09	19:3005538-3005538	A	ENSG00000065717	ENST00000591529	Transcript	missense_variant	1921	1837	613	H/Y	Cat/Tat	rs753759337	IMPACT=MODERATE;SYMBOL=TLE2;BIOTYPE=protein_coding;EXON=18/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11838;TSL=1;SIFT=tolerated(0.07);PolyPhen=probably_damaging(0.938)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000585374	Transcript	missense_variant	1985	1838	613	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=16/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.873)
TCGA-EK-A2RK-01A-11D-A18J-09	3:52402868-52402868	A	ENSG00000163930	ENST00000296288	Transcript	synonymous_variant	1876	1840	614	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=BAP1;BIOTYPE=protein_coding;EXON=15/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:950;TSL=5
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000230882	Transcript	missense_variant	2030	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000537449	Transcript	missense_variant	1888	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000612382	Transcript	missense_variant	2168	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000612626	Transcript	missense_variant	1993	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000615111	Transcript	missense_variant	2283	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000618088	Transcript	missense_variant	1960	1840	614	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998)
TCGA-C5-A7X3-01A-11D-A351-09	9:19369939-19369939	G	ENSG00000137145	ENST00000361024	Transcript	missense_variant	1841	1841	614	H/R	cAc/cGc	-	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=9/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-EA-A3Y4-01A-51D-A243-09	5:37727020-37727020	G	ENSG00000082068	ENST00000265107	Transcript	missense_variant	2008	1852	618	H/D	Cat/Gat	-	IMPACT=MODERATE;SYMBOL=WDR70;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25495;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.726)
TCGA-C5-A1MK-01A-11D-A14W-08	9:6013755-6013755	G	ENSG00000137040	ENST00000259569	Transcript	missense_variant	1864	1853	618	R/T	aGa/aCa	COSM4826855	IMPACT=MODERATE;SYMBOL=RANBP6;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9851;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);SOMATIC=1;PHENO=1
TCGA-EK-A2PM-01A-11D-A18J-09	9:713097-713097	T	ENSG00000107104	ENST00000382293	Transcript	missense_variant	2653	1857	619	R/S	agG/agT	rs773067801,COSM4831447,COSM4831448,COSM4831449	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=2/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.473e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:8.657e-05;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-EK-A2GZ-01A-11D-A17W-09	5:42719347-42719347	A	ENSG00000112964	ENST00000620156	Transcript	missense_variant	1998	1861	621	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=GHR;BIOTYPE=protein_coding;EXON=10/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4263;TSL=5;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.82)
TCGA-EK-A2RK-01A-11D-A18J-09	18:2616517-2616517	C	ENSG00000080986	ENST00000261597	Transcript	missense_variant	2054	1872	624	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=NDC80;BIOTYPE=protein_coding;EXON=17/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16909;TSL=1;APPRIS=P1;SIFT=tolerated(0.25);PolyPhen=benign(0.002)
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000383408	Transcript	synonymous_variant	2199	1872	624	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=15/53;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;APPRIS=A2
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000313093	Transcript	missense_variant	2113	1873	625	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=1;APPRIS=P3;SIFT=tolerated(0.19);PolyPhen=benign(0.004)
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000319217	Transcript	missense_variant	2122	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=15/47;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000381022	Transcript	missense_variant	2096	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=15/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000447879	Transcript	missense_variant	1917	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=14/45;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000536827	Transcript	missense_variant	1917	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=14/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000541718	Transcript	missense_variant	2096	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=15/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=P3
TCGA-C5-A2LX-01A-11D-A18J-09	9:13192225-13192225	T	ENSG00000107186	ENST00000546205	Transcript	missense_variant	1939	1874	625	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=15/48;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-EK-A2RO-01A-11D-A18J-09	19:1826912-1826912	T	ENSG00000079313	ENST00000170168	Transcript	missense_variant	1982	1877	626	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=REXO1;BIOTYPE=protein_coding;EXON=2/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24616;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A1BJ-01A-11D-A13W-08	19:4430573-4430573	A	ENSG00000167670	ENST00000301280	Transcript	missense_variant	1980	1879	627	D/N	Gat/Aat	-	IMPACT=MODERATE;SYMBOL=CHAF1A;BIOTYPE=protein_coding;EXON=11/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1910;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-C5-A1BL-01A-11D-A13W-08	16:22132909-22132909	T	ENSG00000175267	ENST00000389398	Transcript	missense_variant	1978	1882	628	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=VWA3A;BIOTYPE=protein_coding;EXON=20/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27088;TSL=5;APPRIS=P2;SIFT=tolerated(0.2);PolyPhen=benign(0.02)
TCGA-MY-A5BD-01A-11D-A26G-09	16:56485629-56485629	C	ENSG00000125124	ENST00000568104	Transcript	missense_variant	2061	1882	628	P/A	Cca/Gca	COSM3421046	IMPACT=MODERATE;SYMBOL=BBS2;BIOTYPE=protein_coding;EXON=15/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:967;TSL=5;SOMATIC=1;PHENO=1
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000586866	Transcript	missense_variant	1960	1885	629	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=1;APPRIS=A2;SIFT=tolerated(0.21);PolyPhen=benign(0.024)
TCGA-Q1-A73P-01A-11D-A32I-09	11:617419-617419	G	ENSG00000099834	ENST00000349570	Transcript	missense_variant	2155	1888	630	E/Q	Gag/Cag	COSM4826056	IMPACT=MODERATE;SYMBOL=CDHR5;BIOTYPE=protein_coding;EXON=14/14;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7521;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.1);PolyPhen=unknown(0);SOMATIC=1;PHENO=1
TCGA-EK-A2RK-01A-11D-A18J-09	3:52402868-52402868	A	ENSG00000163930	ENST00000460680	Transcript	synonymous_variant	2366	1894	632	L	Ctg/Ttg	-	IMPACT=LOW;SYMBOL=BAP1;BIOTYPE=protein_coding;EXON=15/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:950;TSL=1;APPRIS=P1
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000397606	Transcript	missense_variant	1945	1894	632	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.46);PolyPhen=possibly_damaging(0.873);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000397617	Transcript	missense_variant	1997	1894	632	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=12/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.38);PolyPhen=probably_damaging(0.94);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A1BM-01A-11D-A13W-08	22:50704989-50704989	A	ENSG00000251322	ENST00000445220	Transcript	missense_variant	1901	1901	634	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=SHANK3;BIOTYPE=protein_coding;EXON=17/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14294;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993)
TCGA-WL-A834-01A-11D-A351-09	3:58110095-58110095	G	ENSG00000136068	ENST00000493452	Transcript	synonymous_variant	2059	1902	634	A	gcA/gcG	-	IMPACT=LOW;SYMBOL=FLNB;BIOTYPE=protein_coding;EXON=15/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3755;TSL=1
TCGA-DG-A2KL-01A-11D-A17W-09	9:34257704-34257704	G	ENSG00000186638	ENST00000402558	Transcript	missense_variant	1928	1903	635	G/R	Ggg/Cgg	-	IMPACT=MODERATE;SYMBOL=KIF24;BIOTYPE=protein_coding;EXON=10/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19916;TSL=5;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.157)
TCGA-EK-A2PM-01A-11D-A18J-09	5:476336-476336	T	ENSG00000066230	ENST00000514375	Transcript	missense_variant	1914	1906	636	D/N	Gac/Aac	rs377432139	IMPACT=MODERATE;SYMBOL=SLC9A3;BIOTYPE=protein_coding;EXON=13/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11073;TSL=1;APPRIS=A2;SIFT=tolerated(0.12);PolyPhen=benign(0.012);AA_MAF=T:0.0002;EA_MAF=T:0;ExAC_MAF=T:2.471e-05;ExAC_Adj_MAF=T:2.488e-05;ExAC_AFR_MAF=T:9.764e-05;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0001159;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.511e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000537002	Transcript	missense_variant	2015	1909	637	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=13/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.48);PolyPhen=possibly_damaging(0.754);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	1:201868709-201868709	A	ENSG00000198700	ENST00000361565	Transcript	stop_gained	1986	1917	639	W/*	tgG/tgA	-	IMPACT=HIGH;SYMBOL=IPO9;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19425;TSL=1;APPRIS=P1
TCGA-C5-A3HL-01A-11D-A20U-09	18:9255252-9255252	T	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2278	1916	639	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(1)
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000397611	Transcript	missense_variant	2021	1915	639	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=13/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.43);PolyPhen=probably_damaging(0.94);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000540638	Transcript	missense_variant	2299	1919	640	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=15/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=A2;SIFT=tolerated(0.48);PolyPhen=benign(0.003);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-C5-A1BM-01A-11D-A13W-08	22:50704989-50704989	A	ENSG00000251322	ENST00000262795	Transcript	missense_variant	1919	1919	640	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=SHANK3;BIOTYPE=protein_coding;EXON=19/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14294;TSL=5;APPRIS=P5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.993)
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000539243	Transcript	missense_variant	2024	1921	641	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=2;APPRIS=A2;SIFT=tolerated(0.18);PolyPhen=benign(0.238)
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000355233	Transcript	missense_variant	2027	1924	642	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.43);PolyPhen=possibly_damaging(0.786);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000486161	Transcript	missense_variant	1975	1924	642	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.43);PolyPhen=possibly_damaging(0.87);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	5:476336-476336	T	ENSG00000066230	ENST00000264938	Transcript	missense_variant	1943	1933	645	D/N	Gac/Aac	rs377432139	IMPACT=MODERATE;SYMBOL=SLC9A3;BIOTYPE=protein_coding;EXON=13/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11073;TSL=1;APPRIS=P3;SIFT=tolerated(0.12);PolyPhen=benign(0.012);AA_MAF=T:0.0002;EA_MAF=T:0;ExAC_MAF=T:2.471e-05;ExAC_Adj_MAF=T:2.488e-05;ExAC_AFR_MAF=T:9.764e-05;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0001159;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.511e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EA-A3QD-01A-32D-A22X-09	9:3932409-3932409	T	ENSG00000107249	ENST00000381971	Transcript	missense_variant	2528	1934	645	R/K	aGa/aAa	COSM4821769,COSM4821770	IMPACT=MODERATE;SYMBOL=GLIS3;BIOTYPE=protein_coding;EXON=6/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28510;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.973);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BL-01A-11D-A13W-08	16:22132909-22132909	T	ENSG00000175267	ENST00000568328	Transcript	missense_variant	2041	1945	649	R/C	Cgt/Tgt	-	IMPACT=MODERATE;SYMBOL=VWA3A;BIOTYPE=protein_coding;EXON=21/23;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:27088;TSL=1;SIFT=tolerated(0.2);PolyPhen=benign(0.013)
TCGA-C5-A1MN-01A-11D-A14W-08	5:10415612-10415612	A	ENSG00000145495	ENST00000449913	Transcript	synonymous_variant	2143	1947	649	A	gcG/gcA	rs745995955	IMPACT=LOW;SYMBOL=MARCH6;BIOTYPE=protein_coding;EXON=20/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30550;TSL=2;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.241e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.499e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A7UH-01A-11D-A351-09	5:37226650-37226650	G	ENSG00000197603	ENST00000425232	Transcript	missense_variant	2176	1945	649	G/R	Ggg/Cgg	-	IMPACT=MODERATE;SYMBOL=C5orf42;BIOTYPE=protein_coding;EXON=12/52;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25801;TSL=5;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A7UH-01A-11D-A351-09	5:37226650-37226650	G	ENSG00000197603	ENST00000508244	Transcript	missense_variant	2039	1945	649	G/R	Ggg/Cgg	-	IMPACT=MODERATE;SYMBOL=C5orf42;BIOTYPE=protein_coding;EXON=11/51;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25801;TSL=5;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A1MH-01A-11D-A14W-08	19:2813158-2813158	C	ENSG00000172009	ENST00000307741	Transcript	missense_variant	2155	1952	651	C/S	tGc/tCc	rs757865226	IMPACT=MODERATE;SYMBOL=THOP1;BIOTYPE=protein_coding;EXON=13/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11793;TSL=1;APPRIS=P1;ExAC_MAF=-:8.269e-06;ExAC_Adj_MAF=-:9.903e-06;ExAC_AFR_MAF=-:0;ExAC_AMR_MAF=-:9.899e-05;ExAC_EAS_MAF=-:0;ExAC_FIN_MAF=-:0;ExAC_NFE_MAF=-:0;ExAC_OTH_MAF=-:0;ExAC_SAS_MAF=-:0
TCGA-IR-A3LL-01A-11D-A20U-09	19:5696116-5696116	G	ENSG00000196365	ENST00000360614	Transcript	missense_variant	2109	1951	651	D/H	Gac/Cac	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=13/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A3HD-01B-11D-A20U-09	19:1080508-1080508	G	ENSG00000180448	ENST00000590214	Transcript	missense_variant	2033	1954	652	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ARHGAP45;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17102;TSL=5;APPRIS=A2;SIFT=tolerated(0.21);PolyPhen=benign(0.023)
TCGA-EA-A5ZE-01A-11D-A28B-09	18:2892085-2892085	A	ENSG00000132205	ENST00000254528	Transcript	missense_variant	2117	1958	653	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=EMILIN2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19881;TSL=1;APPRIS=P1;SIFT=tolerated(0.37);PolyPhen=benign(0.002)
TCGA-EK-A2RJ-01A-11D-A18J-09	22:50217320-50217320	T	ENSG00000073169	ENST00000380903	Transcript	missense_variant	2019	1961	654	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=SELO;BIOTYPE=protein_coding;EXON=9/9;STRAND=1;SYMBOL_SOURCE=EntrezGene;TSL=1;APPRIS=P2;SIFT=deleterious(0.03);PolyPhen=benign(0.275)
TCGA-EK-A2RJ-01A-11D-A18J-09	22:50217320-50217320	T	ENSG00000073169	ENST00000611222	Transcript	missense_variant	2019	1961	654	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=SELO;BIOTYPE=protein_coding;EXON=9/10;STRAND=1;SYMBOL_SOURCE=EntrezGene;TSL=5;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.678)
TCGA-C5-A2LX-01A-11D-A18J-09	17:8108585-8108585	T	ENSG00000179148	ENST00000318227	Transcript	missense_variant	2232	1963	655	L/I	Ctc/Atc	-	IMPACT=MODERATE;SYMBOL=ALOXE3;BIOTYPE=protein_coding;EXON=13/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13743;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.967)
TCGA-EK-A2PM-01A-11D-A18J-09	12:111744900-111744900	G	ENSG00000111271	ENST00000313698	Transcript	missense_variant	2127	1972	658	S/G	Agc/Ggc	-	IMPACT=MODERATE;SYMBOL=ACAD10;BIOTYPE=protein_coding;EXON=13/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21597;TSL=1;APPRIS=P3;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-EK-A2PM-01A-11D-A18J-09	12:111744900-111744900	G	ENSG00000111271	ENST00000549590	Transcript	missense_variant	2154	1972	658	S/G	Agc/Ggc	-	IMPACT=MODERATE;SYMBOL=ACAD10;BIOTYPE=protein_coding;EXON=13/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21597;TSL=5;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-C5-A7CO-01A-11D-A351-09	19:621725-621725	A	ENSG00000099821	ENST00000588649	Transcript	missense_variant	2065	1973	658	P/L	cCg/cTg	rs750816126,COSM4856276,COSM4856277	IMPACT=MODERATE;SYMBOL=POLRMT;BIOTYPE=protein_coding;EXON=10/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9200;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.066);ExAC_MAF=A:8.258e-06;ExAC_Adj_MAF=A:9.148e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:9.353e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EA-A5ZF-01A-11D-A28B-09	22:21385831-21385831	T	ENSG00000274600	ENST00000620804	Transcript	missense_variant	2458	1973	658	A/V	gCa/gTa	-	IMPACT=MODERATE;SYMBOL=RIMBP3B;BIOTYPE=protein_coding;EXON=1/1;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:33891;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.827)
TCGA-EK-A2RK-01A-11D-A18J-09	9:19372056-19372056	A	ENSG00000137145	ENST00000361024	Transcript	stop_retained_variant	1974	1974	658	*	taG/taA	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=1
TCGA-C5-A3HL-01A-11D-A20U-09	18:9255252-9255252	T	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2225	1985	662	R/I	aGa/aTa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000593119	Transcript	missense_variant	2021	1988	663	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=16/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.896)
TCGA-DS-A0VM-01A-11D-A10S-08	18:2740770-2740770	T	ENSG00000101596	ENST00000577880	Transcript	synonymous_variant,NMD_transcript_variant	1995	1995	665	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=17/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2
TCGA-C5-A1BI-01B-11D-A13W-08	1:39333265-39333265	T	ENSG00000127603	ENST00000289893	Transcript	missense_variant	2128	1997	666	T/I	aCa/aTa	-	IMPACT=MODERATE;SYMBOL=MACF1;BIOTYPE=protein_coding;EXON=1/64;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13664;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.451)
TCGA-C5-A7CG-01A-11D-A32I-09	16:23080124-23080124	T	ENSG00000103404	ENST00000219689	Transcript	missense_variant	1998	1998	666	F/L	ttC/ttA	-	IMPACT=MODERATE;SYMBOL=USP31;BIOTYPE=protein_coding;EXON=13/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20060;TSL=1;APPRIS=P1
TCGA-EA-A5ZF-01A-11D-A28B-09	19:4816382-4816382	T	ENSG00000127666	ENST00000248244	Transcript	missense_variant	2226	1996	666	P/T	Ccc/Acc	rs11466724	IMPACT=MODERATE;SYMBOL=TICAM1;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18348;TSL=1;APPRIS=P2;SIFT=tolerated(0.25);PolyPhen=benign(0.12)
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000545707	Transcript	missense_variant	2083	1997	666	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=15/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255339-9255339	C	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2365	2003	668	C/S	tGt/tCt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A7UH-01A-11D-A351-09	19:5231417-5231417	G	ENSG00000105426	ENST00000588012	Transcript	missense_variant	2032	2009	670	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=10/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.991)
TCGA-EK-A2RN-01A-12D-A20U-09	18:2740790-2740790	A	ENSG00000101596	ENST00000577880	Transcript	missense_variant,NMD_transcript_variant	2015	2015	672	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=17/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-R2-A69V-01A-11D-A32I-09	13:114325861-114325861	T	ENSG00000198824	ENST00000361283	Transcript	synonymous_variant	2328	2019	673	I	atC/atT	-	IMPACT=LOW;SYMBOL=CHAMP1;BIOTYPE=protein_coding;EXON=3/3;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:20311;TSL=1;APPRIS=P1
TCGA-MY-A5BD-01A-11D-A26G-09	16:56485629-56485629	C	ENSG00000125124	ENST00000245157	Transcript	missense_variant	2441	2020	674	P/A	Cca/Gca	COSM3421046	IMPACT=MODERATE;SYMBOL=BBS2;BIOTYPE=protein_coding;EXON=16/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:967;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000302079	Transcript	synonymous_variant	2025	2025	675	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=15/51;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000503781	Transcript	synonymous_variant	2025	2025	675	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=15/52;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=1;APPRIS=P2
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000580640	Transcript	synonymous_variant	2025	2025	675	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=protein_coding;EXON=15/54;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5;APPRIS=A2
TCGA-LP-A7HU-01A-11D-A33O-09	18:10789223-10789223	T	ENSG00000154864	ENST00000582913	Transcript	synonymous_variant,NMD_transcript_variant	2025	2025	675	L	ctC/ctA	-	IMPACT=LOW;SYMBOL=PIEZO2;BIOTYPE=nonsense_mediated_decay;EXON=15/54;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26270;TSL=5
TCGA-EK-A2RK-01A-11D-A18J-09	19:1005526-1005526	A	ENSG00000116032	ENST00000234389	Transcript	synonymous_variant	2044	2025	675	E	gaG/gaA	rs765104635	IMPACT=LOW;SYMBOL=GRIN3B;BIOTYPE=protein_coding;EXON=3/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16768;TSL=1;APPRIS=P1;ExAC_MAF=A:2.476e-05;ExAC_Adj_MAF=A:1.825e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:9.463e-05;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.845e-05
TCGA-IR-A3LL-01A-11D-A20U-09	9:27203064-27203064	A	ENSG00000120156	ENST00000406359	Transcript	missense_variant	2200	2025	675	M/I	atG/atA	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=12/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000455727	Transcript	missense_variant	2113	2027	676	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=15/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000424307	Transcript	missense_variant	2049	2029	677	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=8/8;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=5
TCGA-C5-A2LX-01A-11D-A18J-09	17:8108585-8108585	T	ENSG00000179148	ENST00000380149	Transcript	missense_variant	2066	2035	679	L/I	Ctc/Atc	-	IMPACT=MODERATE;SYMBOL=ALOXE3;BIOTYPE=protein_coding;EXON=12/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13743;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.945)
TCGA-Q1-A73Q-01A-21D-A32I-09	9:27203078-27203078	T	ENSG00000120156	ENST00000406359	Transcript	missense_variant	2214	2039	680	R/L	cGa/cTa	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=12/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=2;SIFT=deleterious(0.01);PolyPhen=benign(0.394)
TCGA-EK-A2RJ-01A-11D-A18J-09	17:73201869-73201869	A	ENSG00000166685	ENST00000299886	Transcript	missense_variant	2122	2042	681	G/D	gGc/gAc	rs766057419	IMPACT=MODERATE;SYMBOL=COG1;BIOTYPE=protein_coding;EXON=7/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6545;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.616);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.313e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.097e-05
TCGA-EK-A2RJ-01A-11D-A18J-09	17:73201869-73201869	A	ENSG00000166685	ENST00000438720	Transcript	missense_variant	2040	2042	681	G/D	gGc/gAc	rs766057419	IMPACT=MODERATE;SYMBOL=COG1;BIOTYPE=protein_coding;EXON=7/13;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6545;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.786);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.313e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.097e-05
TCGA-EK-A2RJ-01A-11D-A18J-09	17:73201869-73201869	A	ENSG00000166685	ENST00000618996	Transcript	missense_variant	2378	2042	681	G/D	gGc/gAc	rs766057419	IMPACT=MODERATE;SYMBOL=COG1;BIOTYPE=protein_coding;EXON=8/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6545;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.616);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.313e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.097e-05
TCGA-DS-A7WH-01A-22D-A351-09	18:9255384-9255384	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2410	2048	683	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.54);PolyPhen=benign(0.007)
TCGA-C5-A7UH-01A-11D-A351-09	19:5231417-5231417	G	ENSG00000105426	ENST00000587303	Transcript	missense_variant	2148	2048	683	R/P	cGg/cCg	-	IMPACT=MODERATE;SYMBOL=PTPRS;BIOTYPE=protein_coding;EXON=13/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9681;TSL=1;APPRIS=P4;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A2LZ-01A-11D-A20U-09	5:131671652-131671652	G	ENSG00000217128	ENST00000615660	Transcript	missense_variant	2910	2048	683	W/S	tGg/tCg	-	IMPACT=MODERATE;SYMBOL=FNIP1;BIOTYPE=protein_coding;EXON=15/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29418;TSL=5;SIFT=tolerated(0.45);PolyPhen=probably_damaging(1)
TCGA-DS-A7WH-01A-22D-A351-09	18:9255387-9255387	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2413	2051	684	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-DS-A7WH-01A-22D-A351-09	18:9255389-9255389	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2415	2053	685	Y/N	Tat/Aat	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.959)
TCGA-EK-A2PM-01A-11D-A18J-09	9:32633525-32633525	C	ENSG00000122728	ENST00000242310	Transcript	synonymous_variant	2145	2055	685	R	cgC/cgG	-	IMPACT=LOW;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1
TCGA-EK-A2RJ-01A-11D-A18J-09	9:35717718-35717718	G	ENSG00000137076	ENST00000314888	Transcript	missense_variant	2418	2064	688	R/S	agG/agC	-	IMPACT=MODERATE;SYMBOL=TLN1;BIOTYPE=protein_coding;EXON=18/57;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11845;TSL=1;APPRIS=P1
TCGA-BI-A0VR-01A-11D-A10S-08	X:48976099-48976099	T	ENSG00000068400	ENST00000622599	Transcript	missense_variant	2082	2062	688	E/K	Gaa/Aaa	-	IMPACT=MODERATE;SYMBOL=GRIPAP1;BIOTYPE=protein_coding;EXON=22/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18706;TSL=5;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.999)
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784576-46784576	A	ENSG00000175216	ENST00000312055	Transcript	missense_variant	2192	2066	689	T/M	aCg/aTg	rs772285455	IMPACT=MODERATE;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=17/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.237e-06;ExAC_AFR_MAF=C:9.612e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784576-46784576	A	ENSG00000175216	ENST00000354558	Transcript	missense_variant	2092	2066	689	T/M	aCg/aTg	rs772285455	IMPACT=MODERATE;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=16/42;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.237e-06;ExAC_AFR_MAF=C:9.612e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784576-46784576	A	ENSG00000175216	ENST00000529230	Transcript	missense_variant	2113	2066	689	T/M	aCg/aTg	rs772285455	IMPACT=MODERATE;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=17/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.95);ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.237e-06;ExAC_AFR_MAF=C:9.612e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2PM-01A-11D-A18J-09	12:111744900-111744900	G	ENSG00000111271	ENST00000455480	Transcript	missense_variant	2242	2065	689	S/G	Agc/Ggc	-	IMPACT=MODERATE;SYMBOL=ACAD10;BIOTYPE=protein_coding;EXON=14/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21597;TSL=1;APPRIS=A2;SIFT=tolerated(1);PolyPhen=benign(0)
TCGA-EA-A3QD-01A-32D-A22X-09	18:2892200-2892200	T	ENSG00000132205	ENST00000254528	Transcript	synonymous_variant	2232	2073	691	C	tgC/tgT	-	IMPACT=LOW;SYMBOL=EMILIN2;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19881;TSL=1;APPRIS=P1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255339-9255339	C	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2312	2072	691	C/S	tGt/tCt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A1ML-01A-11D-A14W-08	11:281810-281810	T	ENSG00000174885	ENST00000312165	Transcript	missense_variant	2076	2076	692	K/N	aaG/aaT	COSM4837490	IMPACT=MODERATE;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=1;APPRIS=P3;SIFT=deleterious(0.03);PolyPhen=benign(0.055);SOMATIC=1;PHENO=1
TCGA-C5-A1ML-01A-11D-A14W-08	11:281810-281810	T	ENSG00000174885	ENST00000534750	Transcript	missense_variant	2281	2076	692	K/N	aaG/aaT	COSM4837490	IMPACT=MODERATE;SYMBOL=NLRP6;BIOTYPE=protein_coding;EXON=4/8;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22944;TSL=2;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=benign(0.008);SOMATIC=1;PHENO=1
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000342933	Transcript	missense_variant	2487	2078	693	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=17/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;APPRIS=A2;SIFT=tolerated(0.31);PolyPhen=benign(0.026);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000544123	Transcript	missense_variant	2306	2078	693	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=17/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=2;APPRIS=A2;SIFT=tolerated(0.29);PolyPhen=benign(0.001);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-C5-A1BK-01B-11D-A13W-08	5:13900383-13900383	T	ENSG00000039139	ENST00000265104	Transcript	synonymous_variant	2187	2082	694	A	gcG/gcA	-	IMPACT=LOW;SYMBOL=DNAH5;BIOTYPE=protein_coding;EXON=15/79;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2950;TSL=1;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784554-46784554	C	ENSG00000175216	ENST00000312055	Transcript	synonymous_variant	2214	2088	696	G	ggC/ggG	rs779335978	IMPACT=LOW;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=17/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=5;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.498e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784554-46784554	C	ENSG00000175216	ENST00000354558	Transcript	synonymous_variant	2114	2088	696	G	ggC/ggG	rs779335978	IMPACT=LOW;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=16/42;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=1;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.498e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-DS-A0VM-01A-11D-A10S-08	11:46784554-46784554	C	ENSG00000175216	ENST00000529230	Transcript	synonymous_variant	2135	2088	696	G	ggC/ggG	rs779335978	IMPACT=LOW;SYMBOL=CKAP5;BIOTYPE=protein_coding;EXON=17/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28959;TSL=5;APPRIS=P1;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.498e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A3HL-01A-11D-A20U-09	18:9255426-9255426	C	ENSG00000101745	ENST00000400020	Transcript	stop_lost	2452	2090	697	*/S	tGa/tCa	-	IMPACT=HIGH;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-DS-A7WH-01A-22D-A351-09	18:9255426-9255426	C	ENSG00000101745	ENST00000400020	Transcript	stop_lost	2452	2090	697	*/S	tGa/tCa	-	IMPACT=HIGH;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-C5-A1MN-01A-11D-A14W-08	5:10415612-10415612	A	ENSG00000145495	ENST00000274140	Transcript	synonymous_variant	2223	2091	697	A	gcG/gcA	rs745995955	IMPACT=LOW;SYMBOL=MARCH6;BIOTYPE=protein_coding;EXON=21/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30550;TSL=1;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.241e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.499e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2RO-01A-11D-A18J-09	18:12125918-12125918	T	ENSG00000181626	ENST00000587848	Transcript	synonymous_variant	2262	2097	699	I	atC/atT	-	IMPACT=LOW;SYMBOL=ANKRD62;BIOTYPE=protein_coding;EXON=13/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35241;TSL=5;APPRIS=P1
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000409823	Transcript	missense_variant	2208	2095	699	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=9/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=5
TCGA-FU-A23K-01A-11D-A16O-08	22:18609338-18609338	G	ENSG00000275793	ENST00000619918	Transcript	synonymous_variant	2582	2097	699	P	ccG/ccC	-	IMPACT=LOW;SYMBOL=RIMBP3;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29344;APPRIS=P1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255435-9255435	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2461	2099	700	I/K	aTa/aAa	rs763177572	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;ExAC_MAF=C:8.260e-06;ExAC_Adj_MAF=C:8.798e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.597e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2GZ-01A-11D-A17W-09	18:2707601-2707601	A	ENSG00000101596	ENST00000320876	Transcript	missense_variant	2440	2102	701	G/D	gGt/gAt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=16/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1
TCGA-BI-A0VR-01A-11D-A10S-08	X:48976099-48976099	T	ENSG00000068400	ENST00000593475	Transcript	missense_variant	2109	2104	702	E/K	Gaa/Aaa	-	IMPACT=MODERATE;SYMBOL=GRIPAP1;BIOTYPE=protein_coding;EXON=23/25;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18706;TSL=5;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.994)
TCGA-C5-A3HL-01A-11D-A20U-09	9:19058250-19058250	A	ENSG00000147874	ENST00000380496	Transcript	synonymous_variant	2124	2109	703	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=HAUS6;BIOTYPE=protein_coding;EXON=13/13;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25948;TSL=2;APPRIS=A2
TCGA-DS-A7WH-01A-22D-A351-09	18:9255384-9255384	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2357	2117	706	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=tolerated_low_confidence(0.55);PolyPhen=benign(0.002)
TCGA-DS-A7WH-01A-22D-A351-09	18:9255387-9255387	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2360	2120	707	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-DS-A7WH-01A-22D-A351-09	18:9255389-9255389	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2362	2122	708	Y/N	Tat/Aat	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.91)
TCGA-IR-A3LL-01A-11D-A20U-09	5:24487903-24487903	T	ENSG00000040731	ENST00000264463	Transcript	synonymous_variant	2635	2127	709	E	gaG/gaA	rs752982862,COSM1178088	IMPACT=LOW;SYMBOL=CDH10;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1749;TSL=1;APPRIS=P1;ExAC_MAF=A:1.647e-05;ExAC_Adj_MAF=A:1.649e-05;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0.0002312;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0;SOMATIC=0,1;PHENO=0,1
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049779-13049779	T	ENSG00000101639	ENST00000589596	Transcript	missense_variant	2208	2128	710	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=14/18;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=2;APPRIS=A2
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049781-13049781	T	ENSG00000101639	ENST00000589596	Transcript	synonymous_variant	2210	2130	710	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=14/18;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=2;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:34725112-34725112	G	ENSG00000205108	ENST00000378788	Transcript	missense_variant	2168	2128	710	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=FAM205A;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:41911;TSL=2;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=probably_damaging(0.971)
TCGA-EK-A2PI-01A-11D-A18J-09	18:6912104-6912104	A	ENSG00000088756	ENST00000383472	Transcript	missense_variant	2244	2140	714	G/S	Ggt/Agt	COSM1710954	IMPACT=MODERATE;SYMBOL=ARHGAP28;BIOTYPE=protein_coding;EXON=18/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25509;TSL=5;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=benign(0.233);SOMATIC=1;PHENO=1
TCGA-EX-A1H5-01A-31D-A13W-08	9:36117064-36117064	A	ENSG00000122707	ENST00000377966	Transcript	missense_variant	2706	2140	714	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=RECK;BIOTYPE=protein_coding;EXON=17/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11345;TSL=1;APPRIS=P1;SIFT=tolerated(0.43);PolyPhen=benign(0.014)
TCGA-EX-A1H5-01A-31D-A13W-08	9:36117064-36117064	A	ENSG00000122707	ENST00000377966	Transcript	missense_variant	2706	2140	714	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=RECK;BIOTYPE=protein_coding;EXON=17/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11345;TSL=1;APPRIS=P1;SIFT=tolerated(0.43);PolyPhen=benign(0.014)
TCGA-EX-A1H5-01A-31D-A13W-08	9:36117064-36117064	A	ENSG00000122707	ENST00000377966	Transcript	missense_variant	2706	2140	714	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=RECK;BIOTYPE=protein_coding;EXON=17/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11345;TSL=1;APPRIS=P1;SIFT=tolerated(0.43);PolyPhen=benign(0.014)
TCGA-EX-A1H5-01A-31D-A13W-08	9:36117064-36117064	A	ENSG00000122707	ENST00000377966	Transcript	missense_variant	2706	2140	714	V/I	Gtc/Atc	-	IMPACT=MODERATE;SYMBOL=RECK;BIOTYPE=protein_coding;EXON=17/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11345;TSL=1;APPRIS=P1;SIFT=tolerated(0.43);PolyPhen=benign(0.014)
TCGA-IR-A3LL-01A-11D-A20U-09	9:27203064-27203064	A	ENSG00000120156	ENST00000380036	Transcript	missense_variant	2596	2154	718	M/I	atG/atA	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=13/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=1;APPRIS=P1
TCGA-C5-A3HL-01A-11D-A20U-09	18:9255426-9255426	C	ENSG00000101745	ENST00000262126	Transcript	stop_lost	2399	2159	720	*/S	tGa/tCa	-	IMPACT=HIGH;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-DS-A7WH-01A-22D-A351-09	18:9255426-9255426	C	ENSG00000101745	ENST00000262126	Transcript	stop_lost	2399	2159	720	*/S	tGa/tCa	-	IMPACT=HIGH;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-DS-A7WH-01A-22D-A351-09	18:9255435-9255435	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2408	2168	723	I/K	aTa/aAa	rs763177572	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;ExAC_MAF=C:8.260e-06;ExAC_Adj_MAF=C:8.798e-06;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:1.597e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-Q1-A73Q-01A-21D-A32I-09	9:27203078-27203078	T	ENSG00000120156	ENST00000380036	Transcript	missense_variant	2610	2168	723	R/L	cGa/cTa	-	IMPACT=MODERATE;SYMBOL=TEK;BIOTYPE=protein_coding;EXON=13/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11724;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.038)
TCGA-C5-A7UE-01A-11D-A33O-09	18:3126818-3126818	G	ENSG00000101605	ENST00000400569	Transcript	missense_variant	2289	2175	725	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=MYOM1;BIOTYPE=protein_coding;EXON=18/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7613;TSL=5;APPRIS=A2
TCGA-C5-A1MN-01A-11D-A14W-08	9:5080270-5080270	A	ENSG00000096968	ENST00000381652	Transcript	missense_variant	2667	2173	725	E/K	Gaa/Aaa	COSM1554969	IMPACT=MODERATE;SYMBOL=JAK2;BIOTYPE=protein_coding;EXON=17/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6192;TSL=1;APPRIS=P1;SIFT=tolerated(0.44);PolyPhen=benign(0.013);SOMATIC=1;PHENO=1
TCGA-Q1-A6DT-01A-11D-A32I-09	9:8499796-8499796	T	ENSG00000153707	ENST00000356435	Transcript	missense_variant	2279	2173	725	S/T	Tca/Aca	rs762547582,COSM4850863,COSM4850864	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.314);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.243e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.5e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-Q1-A6DT-01A-11D-A32I-09	9:8499796-8499796	T	ENSG00000153707	ENST00000381196	Transcript	missense_variant	2717	2173	725	S/T	Tca/Aca	rs762547582,COSM4850863,COSM4850864	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=22/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.314);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.243e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.5e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-Q1-A6DT-01A-11D-A32I-09	9:8499796-8499796	T	ENSG00000153707	ENST00000540109	Transcript	missense_variant	2279	2173	725	S/T	Tca/Aca	rs762547582,COSM4850863,COSM4850864	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.314);ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.243e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.5e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-BI-A20A-01A-11D-A14W-08	12:121444193-121444193	A	ENSG00000089094	ENST00000377069	Transcript	missense_variant	2584	2177	726	N/I	aAc/aTc	-	IMPACT=MODERATE;SYMBOL=KDM2B;BIOTYPE=protein_coding;EXON=16/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13610;TSL=2;APPRIS=A2;SIFT=tolerated(0.18);PolyPhen=benign(0.006)
TCGA-JX-A3PZ-01A-11D-A21Q-09	19:1050958-1050958	G	ENSG00000064687	ENST00000435683	Transcript	missense_variant	2213	2176	726	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=13/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=benign(0.242)
TCGA-MY-A5BD-01A-11D-A26G-09	19:5694527-5694527	T	ENSG00000196365	ENST00000360614	Transcript	missense_variant	2338	2180	727	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=LONP1;BIOTYPE=protein_coding;EXON=15/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9479;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.873)
TCGA-Q1-A5R2-01A-11D-A28B-09	18:5394771-5394771	G	ENSG00000082397	ENST00000545076	Transcript	missense_variant	2720	2183	728	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=21/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.987)
TCGA-C5-A1BF-01B-11D-A13W-08	15:90766915-90766915	T	ENSG00000197299	ENST00000355112	Transcript	synonymous_variant	2317	2199	733	P	ccG/ccT	-	IMPACT=LOW;SYMBOL=BLM;BIOTYPE=protein_coding;EXON=10/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1058;TSL=1;APPRIS=P1
TCGA-C5-A1BF-01B-11D-A13W-08	15:90766915-90766915	T	ENSG00000197299	ENST00000560509	Transcript	synonymous_variant	2250	2199	733	P	ccG/ccT	-	IMPACT=LOW;SYMBOL=BLM;BIOTYPE=protein_coding;EXON=10/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1058;TSL=1
TCGA-BI-A0VR-01A-11D-A10S-08	X:48976099-48976099	T	ENSG00000068400	ENST00000376423	Transcript	missense_variant	2232	2197	733	E/K	Gaa/Aaa	-	IMPACT=MODERATE;SYMBOL=GRIPAP1;BIOTYPE=protein_coding;EXON=24/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18706;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.999)
TCGA-EK-A2RJ-01A-11D-A18J-09	9:7174698-7174698	G	ENSG00000107077	ENST00000428870	Transcript	missense_variant	2390	2201	734	S/C	tCt/tGt	COSM4831739	IMPACT=MODERATE;SYMBOL=KDM4C;BIOTYPE=protein_coding;EXON=15/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17071;TSL=2;SIFT=tolerated(0.13);PolyPhen=probably_damaging(0.987);SOMATIC=1;PHENO=1
TCGA-WL-A834-01A-11D-A351-09	9:35091686-35091686	T	ENSG00000165282	ENST00000378617	Transcript	missense_variant	2596	2201	734	G/D	gGc/gAc	-	IMPACT=MODERATE;SYMBOL=PIGO;BIOTYPE=protein_coding;EXON=7/11;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23215;TSL=1;APPRIS=P4;SIFT=tolerated(0.48);PolyPhen=benign(0)
TCGA-EK-A2PM-01A-11D-A18J-09	18:13049854-13049854	G	ENSG00000101639	ENST00000589596	Transcript	missense_variant	2283	2203	735	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=14/18;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=benign(0.198)
TCGA-C5-A7CL-01A-11D-A32I-09	2:189864098-189864098	A	ENSG00000064933	ENST00000441310	Transcript	missense_variant	2445	2212	738	V/M	Gtg/Atg	-	IMPACT=MODERATE;SYMBOL=PMS1;BIOTYPE=protein_coding;EXON=10/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9121;TSL=1;APPRIS=P1
TCGA-C5-A1BM-01A-11D-A13W-08	18:13099491-13099491	T	ENSG00000101639	ENST00000589993	Transcript	synonymous_variant,NMD_transcript_variant	2216	2217	739	I	atC/atT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=nonsense_mediated_decay;EXON=17/23;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5
TCGA-C5-A2LZ-01A-11D-A20U-09	X:70387280-70387280	A	ENSG00000090889	ENST00000374403	Transcript	missense_variant	2297	2215	739	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=KIF4A;BIOTYPE=protein_coding;EXON=20/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13339;TSL=1;APPRIS=P1
TCGA-DS-A5RQ-01A-11D-A28B-09	6:15501191-15501191	A	ENSG00000008083	ENST00000341776	Transcript	missense_variant	2474	2230	744	D/N	Gac/Aac	rs142763537	IMPACT=MODERATE;SYMBOL=JARID2;BIOTYPE=protein_coding;EXON=8/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6196;TSL=1;APPRIS=P3;SIFT=tolerated(0.49);PolyPhen=benign(0.079);GMAF=A:0.0014;AFR_MAF=A:0.0000;AMR_MAF=A:0.0029;EAS_MAF=A:0.0000;EUR_MAF=A:0.0050;SAS_MAF=A:0.0000;AA_MAF=A:0.0014;EA_MAF=A:0.0028
TCGA-EA-A3QE-01A-21D-A21Q-09	X:100402754-100402754	G	ENSG00000165194	ENST00000255531	Transcript	missense_variant	2245	2245	749	S/P	Tca/Cca	-	IMPACT=MODERATE;SYMBOL=PCDH19;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14270;TSL=1;APPRIS=P3;SIFT=tolerated(0.16);PolyPhen=possibly_damaging(0.799)
TCGA-EA-A3QE-01A-21D-A21Q-09	X:100402754-100402754	G	ENSG00000165194	ENST00000420881	Transcript	missense_variant	2245	2245	749	S/P	Tca/Cca	-	IMPACT=MODERATE;SYMBOL=PCDH19;BIOTYPE=protein_coding;EXON=2/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14270;TSL=1;APPRIS=A2;SIFT=tolerated(0.12);PolyPhen=benign(0.303)
TCGA-FU-A3TQ-01A-11D-A22X-09	9:35717356-35717356	T	ENSG00000137076	ENST00000314888	Transcript	missense_variant	2602	2248	750	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=TLN1;BIOTYPE=protein_coding;EXON=19/57;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11845;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.902)
TCGA-DS-A7WH-01A-22D-A351-09	18:9255588-9255588	C	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2614	2252	751	R/T	aGa/aCa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.09);PolyPhen=benign(0.258)
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000159111	Transcript	missense_variant	2469	2251	751	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000159111	Transcript	missense_variant	2469	2251	751	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000159111	Transcript	missense_variant	2469	2251	751	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1;APPRIS=P1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000159111	Transcript	missense_variant	2469	2251	751	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1;APPRIS=P1
TCGA-MU-A5YI-01A-11D-A32I-09	9:19360377-19360377	A	ENSG00000137145	ENST00000380427	Transcript	missense_variant	2254	2255	752	T/N	aCt/aAt	rs201852236	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=2;GMAF=G:0.0002;AFR_MAF=G:0.0000;AMR_MAF=G:0.0000;EAS_MAF=G:0.0000;EUR_MAF=G:0.0010;SAS_MAF=G:0.0000;AA_MAF=G:0.0002;EA_MAF=G:0;ExAC_MAF=G:2.471e-05;ExAC_Adj_MAF=G:2.471e-05;ExAC_AFR_MAF=G:9.612e-05;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:2.997e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A7CO-01A-11D-A351-09	4:48542058-48542058	G	ENSG00000075539	ENST00000514617	Transcript	stop_lost	2264	2266	756	*/Q	Tag/Cag	-	IMPACT=HIGH;SYMBOL=FRYL;BIOTYPE=protein_coding;EXON=16/27;STRAND=-1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29127;TSL=2
TCGA-BI-A20A-01A-11D-A14W-08	12:121444193-121444193	A	ENSG00000089094	ENST00000377071	Transcript	missense_variant	2343	2270	757	N/I	aAc/aTc	-	IMPACT=MODERATE;SYMBOL=KDM2B;BIOTYPE=protein_coding;EXON=16/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13610;TSL=1;APPRIS=P4;SIFT=tolerated(0.49);PolyPhen=benign(0.005)
TCGA-JW-A5VG-01A-11D-A28B-09	9:8499699-8499699	T	ENSG00000153707	ENST00000356435	Transcript	missense_variant	2376	2270	757	G/D	gGt/gAt	COSM4818355,COSM4818356	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.999);SOMATIC=1,1;PHENO=1,1
TCGA-JW-A5VG-01A-11D-A28B-09	9:8499699-8499699	T	ENSG00000153707	ENST00000381196	Transcript	missense_variant	2814	2270	757	G/D	gGt/gAt	COSM4818355,COSM4818356	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=22/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.999);SOMATIC=1,1;PHENO=1,1
TCGA-JW-A5VG-01A-11D-A28B-09	9:8499699-8499699	T	ENSG00000153707	ENST00000540109	Transcript	missense_variant	2376	2270	757	G/D	gGt/gAt	COSM4818355,COSM4818356	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=deleterious(0.04);PolyPhen=probably_damaging(0.999);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A23L-01A-11D-A16O-08	16:72122968-72122968	G	ENSG00000118557	ENST00000355636	Transcript	missense_variant	2893	2279	760	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=PMFBP1;BIOTYPE=protein_coding;EXON=19/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17728;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.864)
TCGA-EK-A2RC-01A-11D-A18J-09	9:32542047-32542047	A	ENSG00000197579	ENST00000379858	Transcript	synonymous_variant	2400	2283	761	H	caC/caT	-	IMPACT=LOW;SYMBOL=TOPORS;BIOTYPE=protein_coding;EXON=2/2;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21653;TSL=1;APPRIS=A2
TCGA-MY-A5BD-01A-11D-A26G-09	15:41819251-41819251	A	ENSG00000137802	ENST00000457542	Transcript	missense_variant	2583	2297	766	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=MAPKBP1;BIOTYPE=protein_coding;EXON=21/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29536;TSL=1;APPRIS=P3
TCGA-MY-A5BD-01A-11D-A26G-09	15:41819251-41819251	A	ENSG00000137802	ENST00000514566	Transcript	missense_variant	2475	2297	766	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=MAPKBP1;BIOTYPE=protein_coding;EXON=21/30;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29536;TSL=1
TCGA-MY-A5BD-01A-11D-A26G-09	15:41819251-41819251	A	ENSG00000137802	ENST00000456763	Transcript	missense_variant	2511	2315	772	R/Q	cGg/cAg	-	IMPACT=MODERATE;SYMBOL=MAPKBP1;BIOTYPE=protein_coding;EXON=22/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29536;TSL=1;APPRIS=A2
TCGA-DS-A7WH-01A-22D-A351-09	18:9255588-9255588	C	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2561	2321	774	R/T	aGa/aCa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=tolerated_low_confidence(0.09);PolyPhen=benign(0.01)
TCGA-EK-A2PM-01A-11D-A18J-09	9:713097-713097	T	ENSG00000107104	ENST00000382297	Transcript	missense_variant	2453	2331	777	R/S	agG/agT	rs773067801,COSM4831447,COSM4831448,COSM4831449	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=3/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.473e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:8.657e-05;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:713097-713097	T	ENSG00000107104	ENST00000382303	Transcript	missense_variant	2983	2331	777	R/S	agG/agT	rs773067801,COSM4831447,COSM4831448,COSM4831449	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=7/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.473e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:8.657e-05;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-EK-A2PM-01A-11D-A18J-09	9:713097-713097	T	ENSG00000107104	ENST00000619269	Transcript	missense_variant	3089	2331	777	R/S	agG/agT	rs773067801,COSM4831447,COSM4831448,COSM4831449	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.473e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:8.657e-05;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1,1;PHENO=0,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	2:54871601-54871601	A	ENSG00000214595	ENST00000356458	Transcript	synonymous_variant	2860	2340	780	L	ttG/ttA	-	IMPACT=LOW;SYMBOL=EML6;BIOTYPE=protein_coding;EXON=15/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:35412;TSL=5;APPRIS=P1
TCGA-LP-A7HU-01A-11D-A33O-09	9:17394799-17394799	A	ENSG00000044459	ENST00000380647	Transcript	missense_variant	2429	2345	782	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=15/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3
TCGA-DS-A7WH-01A-22D-A351-09	18:9255690-9255690	T	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2716	2354	785	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000536461	Transcript	missense_variant	2393	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000611640	Transcript	missense_variant	2579	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000536461	Transcript	missense_variant	2393	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000611640	Transcript	missense_variant	2579	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000536461	Transcript	missense_variant	2393	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000611640	Transcript	missense_variant	2579	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=5
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000536461	Transcript	missense_variant	2393	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=15/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=1
TCGA-DS-A0VL-01A-21D-A10S-08	19:5135504-5135504	G	ENSG00000127663	ENST00000611640	Transcript	missense_variant	2579	2353	785	H/D	Cac/Gac	-	IMPACT=MODERATE;SYMBOL=KDM4B;BIOTYPE=protein_coding;EXON=16/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29136;TSL=5
TCGA-JX-A3PZ-01A-11D-A21Q-09	18:13100368-13100368	G	ENSG00000101639	ENST00000589993	Transcript	missense_variant,NMD_transcript_variant	2370	2371	791	P/A	Ccc/Gcc	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=nonsense_mediated_decay;EXON=18/23;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;SIFT=tolerated(0.39);PolyPhen=benign(0.346)
TCGA-C5-A1MI-01A-11D-A14W-08	1:27100375-27100375	T	ENSG00000090020	ENST00000263980	Transcript	missense_variant	2956	2380	794	G/S	Ggc/Agc	-	IMPACT=MODERATE;SYMBOL=SLC9A1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11071;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.858)
TCGA-C5-A1MI-01A-11D-A14W-08	1:27100375-27100375	T	ENSG00000090020	ENST00000263980	Transcript	missense_variant	2956	2380	794	G/S	Ggc/Agc	-	IMPACT=MODERATE;SYMBOL=SLC9A1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11071;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.858)
TCGA-UC-A7PF-01A-11D-A351-09	11:1008096-1008096	G	ENSG00000183020	ENST00000448903	Transcript	missense_variant	2522	2381	794	S/C	tCc/tGc	COSM4830320	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=18/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=1;APPRIS=P3;SIFT=deleterious(0.03);PolyPhen=benign(0.007);SOMATIC=1;PHENO=1
TCGA-UC-A7PF-01A-11D-A351-09	11:1008096-1008096	G	ENSG00000183020	ENST00000332231	Transcript	missense_variant	2597	2384	795	S/C	tCc/tGc	COSM4830320	IMPACT=MODERATE;SYMBOL=AP2A2;BIOTYPE=protein_coding;EXON=18/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:562;TSL=1;APPRIS=A1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.751);SOMATIC=1;PHENO=1
TCGA-UC-A7PF-01A-11D-A351-09	19:5667852-5667852	C	ENSG00000160633	ENST00000454510	Transcript	missense_variant	2450	2383	795	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=SAFB;BIOTYPE=protein_coding;EXON=19/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10520;TSL=2;APPRIS=A2
TCGA-EA-A3QE-01A-21D-A21Q-09	X:100402754-100402754	G	ENSG00000165194	ENST00000373034	Transcript	missense_variant	4062	2386	796	S/P	Tca/Cca	-	IMPACT=MODERATE;SYMBOL=PCDH19;BIOTYPE=protein_coding;EXON=3/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14270;TSL=1;APPRIS=A2;SIFT=tolerated(0.07);PolyPhen=benign(0.303)
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000397606	Transcript	missense_variant	2441	2390	797	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.3);PolyPhen=possibly_damaging(0.842);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000397617	Transcript	missense_variant	2493	2390	797	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=14/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.22);PolyPhen=probably_damaging(0.992);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-FU-A2QG-01A-11D-A18J-09	15:41750066-41750066	C	ENSG00000174197	ENST00000564190	Transcript	missense_variant	2401	2403	801	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=MGA;BIOTYPE=protein_coding;EXON=6/11;STRAND=1;FLAGS=cds_start_NF,cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14010;TSL=2
TCGA-EA-A3Y4-01A-51D-A243-09	4:6862786-6862786	G	ENSG00000170871	ENST00000307659	Transcript	missense_variant	2859	2404	802	N/D	Aac/Gac	-	IMPACT=MODERATE;SYMBOL=KIAA0232;BIOTYPE=protein_coding;EXON=7/10;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28992;TSL=1;APPRIS=P1;SIFT=tolerated(0.38);PolyPhen=benign(0.004)
TCGA-EA-A3Y4-01A-51D-A243-09	4:6862786-6862786	G	ENSG00000170871	ENST00000425103	Transcript	missense_variant	2783	2404	802	N/D	Aac/Gac	-	IMPACT=MODERATE;SYMBOL=KIAA0232;BIOTYPE=protein_coding;EXON=6/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28992;TSL=1;APPRIS=P1;SIFT=tolerated(0.38);PolyPhen=benign(0.004)
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000537002	Transcript	missense_variant	2511	2405	802	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=15/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.3);PolyPhen=probably_damaging(0.983);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000535915	Transcript	missense_variant	2494	2408	803	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=16/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-WL-A834-01A-11D-A351-09	3:58110095-58110095	G	ENSG00000136068	ENST00000295956	Transcript	synonymous_variant	2574	2409	803	A	gcA/gcG	-	IMPACT=LOW;SYMBOL=FLNB;BIOTYPE=protein_coding;EXON=16/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3755;TSL=1;APPRIS=P3
TCGA-WL-A834-01A-11D-A351-09	3:58110095-58110095	G	ENSG00000136068	ENST00000358537	Transcript	synonymous_variant	2574	2409	803	A	gcA/gcG	-	IMPACT=LOW;SYMBOL=FLNB;BIOTYPE=protein_coding;EXON=16/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3755;TSL=1;APPRIS=A1
TCGA-WL-A834-01A-11D-A351-09	3:58110095-58110095	G	ENSG00000136068	ENST00000429972	Transcript	synonymous_variant	2574	2409	803	A	gcA/gcG	-	IMPACT=LOW;SYMBOL=FLNB;BIOTYPE=protein_coding;EXON=16/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3755;TSL=1;APPRIS=A2
TCGA-WL-A834-01A-11D-A351-09	3:58110095-58110095	G	ENSG00000136068	ENST00000490882	Transcript	synonymous_variant	2574	2409	803	A	gcA/gcG	-	IMPACT=LOW;SYMBOL=FLNB;BIOTYPE=protein_coding;EXON=16/47;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3755;TSL=1;APPRIS=A2
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000397611	Transcript	missense_variant	2517	2411	804	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=15/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=tolerated(0.27);PolyPhen=possibly_damaging(0.708);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000355233	Transcript	missense_variant	2523	2420	807	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=16/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.27);PolyPhen=possibly_damaging(0.643);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000486161	Transcript	missense_variant	2471	2420	807	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=16/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=tolerated(0.26);PolyPhen=benign(0.007);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255690-9255690	T	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2663	2423	808	S/I	aGt/aTt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-C5-A2LZ-01A-11D-A20U-09	5:41149429-41149429	T	ENSG00000039537	ENST00000263413	Transcript	missense_variant	2700	2435	812	S/N	aGt/aAt	rs61733158	IMPACT=MODERATE;SYMBOL=C6;BIOTYPE=protein_coding;EXON=17/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1339;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=probably_damaging(0.936);GMAF=A:0.0062;AFR_MAF=A:0.0219;AMR_MAF=A:0.0029;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;AA_MAF=A:0.0159;EA_MAF=A:0;ExAC_MAF=A:1.656e-03;ExAC_Adj_MAF=A:0.00166;ExAC_AFR_MAF=A:0.01815;ExAC_AMR_MAF=A:0.001039;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.001e-05;ExAC_OTH_MAF=A:0.001104;ExAC_SAS_MAF=A:0
TCGA-C5-A2LZ-01A-11D-A20U-09	5:41149429-41149429	T	ENSG00000039537	ENST00000337836	Transcript	missense_variant	2590	2435	812	S/N	aGt/aAt	rs61733158	IMPACT=MODERATE;SYMBOL=C6;BIOTYPE=protein_coding;EXON=17/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1339;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=probably_damaging(0.936);GMAF=A:0.0062;AFR_MAF=A:0.0219;AMR_MAF=A:0.0029;EAS_MAF=A:0.0000;EUR_MAF=A:0.0000;SAS_MAF=A:0.0000;AA_MAF=A:0.0159;EA_MAF=A:0;ExAC_MAF=A:1.656e-03;ExAC_Adj_MAF=A:0.00166;ExAC_AFR_MAF=A:0.01815;ExAC_AMR_MAF=A:0.001039;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:3.001e-05;ExAC_OTH_MAF=A:0.001104;ExAC_SAS_MAF=A:0
TCGA-FU-A3WB-01A-11D-A22X-09	18:2921538-2921538	T	ENSG00000101577	ENST00000261596	Transcript	missense_variant	2676	2437	813	A/T	Gca/Aca	COSM214041	IMPACT=MODERATE;SYMBOL=LPIN2;BIOTYPE=protein_coding;EXON=18/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14450;TSL=1;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=benign(0.034);SOMATIC=1;PHENO=1
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000395308	Transcript	synonymous_variant	2630	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=24/43;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000395309	Transcript	synonymous_variant	2517	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=22/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000395311	Transcript	synonymous_variant	2564	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000395314	Transcript	synonymous_variant	2513	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=P4
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000413890	Transcript	synonymous_variant	2517	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=22/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000438792	Transcript	synonymous_variant	2515	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2
TCGA-DS-A0VM-01A-11D-A10S-08	14:55650367-55650367	A	ENSG00000126777	ENST00000459737	Transcript	synonymous_variant,NMD_transcript_variant	2632	2445	815	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=KTN1;BIOTYPE=nonsense_mediated_decay;EXON=24/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255795-9255795	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2821	2459	820	R/K	aGa/aAa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000395308	Transcript	missense_variant	2647	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=24/43;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=5;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.843)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000395309	Transcript	missense_variant	2534	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=22/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.843)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000395311	Transcript	missense_variant	2581	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.843)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000395314	Transcript	missense_variant	2530	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/44;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=P4;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.575)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000413890	Transcript	missense_variant	2534	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=22/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=possibly_damaging(0.843)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000438792	Transcript	missense_variant	2532	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=protein_coding;EXON=23/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.741)
TCGA-C5-A3HL-01A-11D-A20U-09	14:55650384-55650384	C	ENSG00000126777	ENST00000459737	Transcript	missense_variant,NMD_transcript_variant	2649	2462	821	L/P	cTt/cCt	-	IMPACT=MODERATE;SYMBOL=KTN1;BIOTYPE=nonsense_mediated_decay;EXON=24/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6467;TSL=1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.575)
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000400111	Transcript	missense_variant	2528	2462	821	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=15/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-Q1-A73P-01A-11D-A32I-09	11:617419-617419	G	ENSG00000099834	ENST00000358353	Transcript	missense_variant	2793	2470	824	E/Q	Gag/Cag	COSM4826056	IMPACT=MODERATE;SYMBOL=CDHR5;BIOTYPE=protein_coding;EXON=16/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7521;TSL=5;APPRIS=P4;SIFT=tolerated(0.12);PolyPhen=unknown(0);SOMATIC=1;PHENO=1
TCGA-Q1-A73P-01A-11D-A32I-09	11:617419-617419	G	ENSG00000099834	ENST00000397542	Transcript	missense_variant	2635	2470	824	E/Q	Gag/Cag	COSM4826056	IMPACT=MODERATE;SYMBOL=CDHR5;BIOTYPE=protein_coding;EXON=15/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7521;TSL=1;APPRIS=P4;SIFT=tolerated(0.12);PolyPhen=unknown(0);SOMATIC=1;PHENO=1
TCGA-Q1-A73P-01A-11D-A32I-09	11:799519-799519	A	ENSG00000177595	ENST00000411829	Transcript	stop_gained	2551	2470	824	E/*	Gag/Tag	COSM4825932,COSM4825933	IMPACT=HIGH;SYMBOL=PIDD1;BIOTYPE=protein_coding;EXON=15/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16491;TSL=1;APPRIS=A2;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382293	Transcript	missense_variant	3270	2474	825	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382293	Transcript	missense_variant	3270	2474	825	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382293	Transcript	missense_variant	3270	2474	825	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382293	Transcript	missense_variant	3270	2474	825	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255813-9255813	A	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2839	2477	826	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-EK-A2RC-01A-11D-A18J-09	9:32542047-32542047	A	ENSG00000197579	ENST00000360538	Transcript	synonymous_variant	2595	2478	826	H	caC/caT	-	IMPACT=LOW;SYMBOL=TOPORS;BIOTYPE=protein_coding;EXON=3/3;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21653;TSL=1;APPRIS=P3
TCGA-IR-A3LI-01A-11D-A20U-09	19:49652868-49652868	A	ENSG00000126461	ENST00000360565	Transcript	missense_variant	2603	2479	827	A/T	Gct/Act	-	IMPACT=MODERATE;SYMBOL=SCAF1;BIOTYPE=protein_coding;EXON=7/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30403;TSL=2;APPRIS=P2;SIFT=deleterious_low_confidence(0);PolyPhen=unknown(0)
TCGA-C5-A1BK-01B-11D-A13W-08	17:7948588-7948588	G	ENSG00000170037	ENST00000380262	Transcript	missense_variant	3407	2482	828	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=CNTROB;BIOTYPE=protein_coding;EXON=17/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29616;TSL=1;SIFT=deleterious_low_confidence(0.02);PolyPhen=probably_damaging(0.998)
TCGA-C5-A1BK-01B-11D-A13W-08	17:7948588-7948588	G	ENSG00000170037	ENST00000563694	Transcript	missense_variant	3407	2482	828	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=CNTROB;BIOTYPE=protein_coding;EXON=17/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29616;TSL=1;APPRIS=P2;SIFT=deleterious_low_confidence(0.02);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1BK-01B-11D-A13W-08	17:7948588-7948588	G	ENSG00000170037	ENST00000565740	Transcript	missense_variant	2482	2482	828	L/V	Ctg/Gtg	-	IMPACT=MODERATE;SYMBOL=CNTROB;BIOTYPE=protein_coding;EXON=17/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29616;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.01);PolyPhen=probably_damaging(0.999)
TCGA-DS-A0VN-01A-21D-A10S-08	18:8784515-8784515	C	ENSG00000168502	ENST00000306329	Transcript	missense_variant	2483	2483	828	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MTCL1;BIOTYPE=protein_coding;EXON=5/14;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29121;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=benign(0.442)
TCGA-EA-A1QT-01A-11D-A14W-08	18:8253378-8253378	A	ENSG00000173482	ENST00000400053	Transcript	synonymous_variant	2918	2493	831	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=17/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-Q1-A5R2-01A-11D-A28B-09	9:34724748-34724748	A	ENSG00000205108	ENST00000378788	Transcript	missense_variant	2532	2492	831	S/F	tCt/tTt	-	IMPACT=MODERATE;SYMBOL=FAM205A;BIOTYPE=protein_coding;EXON=4/4;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:41911;TSL=2;APPRIS=P1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255831-9255831	C	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2857	2495	832	R/T	aGa/aCa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.691)
TCGA-Q1-A5R2-01A-11D-A28B-09	18:5394771-5394771	G	ENSG00000082397	ENST00000540638	Transcript	missense_variant	2890	2510	837	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=19/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-EK-A2RN-01A-12D-A20U-09	9:731244-731244	T	ENSG00000107104	ENST00000382293	Transcript	stop_gained	3305	2509	837	Q/*	Cag/Tag	COSM4823218,COSM4823219	IMPACT=HIGH;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=4/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:19058250-19058250	A	ENSG00000147874	ENST00000380502	Transcript	synonymous_variant	2985	2517	839	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=HAUS6;BIOTYPE=protein_coding;EXON=16/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25948;TSL=1;APPRIS=P2
TCGA-Q1-A73P-01A-11D-A32I-09	11:799519-799519	A	ENSG00000177595	ENST00000347755	Transcript	stop_gained	2663	2521	841	E/*	Gag/Tag	COSM4825932,COSM4825933	IMPACT=HIGH;SYMBOL=PIDD1;BIOTYPE=protein_coding;EXON=16/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16491;TSL=1;APPRIS=P3;SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000475336	Transcript	missense_variant	2521	2521	841	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=21/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.53);PolyPhen=benign(0.105)
TCGA-EK-A3GJ-01A-21D-A20U-09	9:5787458-5787458	C	ENSG00000099219	ENST00000339450	Transcript	missense_variant	2612	2522	841	S/C	tCt/tGt	COSM4852419	IMPACT=MODERATE;SYMBOL=ERMP1;BIOTYPE=protein_coding;EXON=14/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23703;TSL=1;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.775);SOMATIC=1;PHENO=1
TCGA-EK-A3GJ-01A-21D-A20U-09	9:5787458-5787458	C	ENSG00000099219	ENST00000462592	Transcript	missense_variant,NMD_transcript_variant	2565	2522	841	S/C	tCt/tGt	COSM4852419	IMPACT=MODERATE;SYMBOL=ERMP1;BIOTYPE=nonsense_mediated_decay;EXON=14/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23703;TSL=2;SIFT=tolerated(0.05);PolyPhen=possibly_damaging(0.775);SOMATIC=1;PHENO=1
TCGA-DS-A7WH-01A-22D-A351-09	18:9255795-9255795	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2768	2528	843	R/K	aGa/aAa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-C5-A1M6-01A-11D-A13W-08	16:30721367-30721367	G	ENSG00000080603	ENST00000483083	Transcript	synonymous_variant	2531	2532	844	A	gcC/gcG	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=14/18;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000558013	Transcript	missense_variant	2602	2531	844	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000558518	Transcript	missense_variant	2718	2531	844	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-IR-A3LI-01A-11D-A20U-09	19:4433403-4433403	T	ENSG00000167670	ENST00000301280	Transcript	missense_variant	2638	2537	846	P/L	cCc/cTc	-	IMPACT=MODERATE;SYMBOL=CHAF1A;BIOTYPE=protein_coding;EXON=13/15;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1910;TSL=1;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.493)
TCGA-DS-A7WH-01A-22D-A351-09	18:9255813-9255813	A	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2786	2546	849	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000341852	Transcript	missense_variant	2890	2545	849	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=22/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated_low_confidence(0.53);PolyPhen=benign(0.105)
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000349721	Transcript	missense_variant	2707	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=18/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0.02);PolyPhen=benign(0.056);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000357248	Transcript	missense_variant	2809	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=18/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.033);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000382194	Transcript	missense_variant	2676	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=18/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=benign(0.033);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000382203	Transcript	missense_variant	2763	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=18/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0.02);PolyPhen=benign(0.056);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000450198	Transcript	missense_variant	2776	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=18/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0.05);PolyPhen=possibly_damaging(0.502);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-HM-A3JK-01A-11D-A21Q-09	9:2086856-2086856	A	ENSG00000080503	ENST00000634760	Transcript	missense_variant,NMD_transcript_variant	2902	2554	852	E/K	Gaa/Aaa	rs281875199,CM122566,COSM4854911,COSM4854912	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=nonsense_mediated_decay;EXON=18/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0.02);PolyPhen=benign(0.023);CLIN_SIG=not_provided;SOMATIC=0,0,1,1;PHENO=1,1,1,1;PUBMED=22366787
TCGA-UC-A7PD-01A-11D-A351-09	9:8486257-8486257	A	ENSG00000153707	ENST00000356435	Transcript	stop_gained	2666	2560	854	Q/*	Cag/Tag	rs778093636	IMPACT=HIGH;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=17/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.24e-06;ExAC_AFR_MAF=C:9.614e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-UC-A7PD-01A-11D-A351-09	9:8486257-8486257	A	ENSG00000153707	ENST00000381196	Transcript	stop_gained	3104	2560	854	Q/*	Cag/Tag	rs778093636	IMPACT=HIGH;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=25/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.24e-06;ExAC_AFR_MAF=C:9.614e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-UC-A7PD-01A-11D-A351-09	9:8486257-8486257	A	ENSG00000153707	ENST00000540109	Transcript	stop_gained	2666	2560	854	Q/*	Cag/Tag	rs778093636	IMPACT=HIGH;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=17/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;ExAC_MAF=C:8.236e-06;ExAC_Adj_MAF=C:8.24e-06;ExAC_AFR_MAF=C:9.614e-05;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-DS-A0VM-01A-11D-A10S-08	16:30721400-30721400	A	ENSG00000080603	ENST00000483083	Transcript	synonymous_variant	2564	2565	855	T	acG/acA	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=14/18;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2
TCGA-DS-A7WH-01A-22D-A351-09	18:9255831-9255831	C	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2804	2564	855	R/T	aGa/aCa	-	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.028)
TCGA-EA-A43B-01A-81D-A243-09	18:8296421-8296421	C	ENSG00000173482	ENST00000400053	Transcript	missense_variant	3008	2583	861	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=18/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-C5-A7UE-01A-11D-A33O-09	18:3126818-3126818	G	ENSG00000101605	ENST00000261606	Transcript	missense_variant	2661	2586	862	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=MYOM1;BIOTYPE=protein_coding;EXON=18/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7613;TSL=1;APPRIS=A2
TCGA-FU-A3HY-01A-11D-A21Q-09	18:5397314-5397314	A	ENSG00000082397	ENST00000341928	Transcript	missense_variant	2926	2585	862	P/L	cCt/cTt	rs200869858	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=18/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=P3;SIFT=tolerated(0.33);PolyPhen=benign(0.001);GMAF=T:0.0004;AFR_MAF=T:0.0008;AMR_MAF=T:0.0014;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;ExAC_MAF=T:7.413e-05;ExAC_Adj_MAF=T:7.423e-05;ExAC_AFR_MAF=T:9.66e-05;ExAC_AMR_MAF=T:0.0005188;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0.0001211
TCGA-DS-A7WH-01A-22D-A351-09	18:9255921-9255921	C	ENSG00000101745	ENST00000400020	Transcript	missense_variant	2947	2585	862	G/A	gGt/gCt	COSM340115	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2;SIFT=deleterious_low_confidence(0.03);PolyPhen=benign(0.167);SOMATIC=1;PHENO=1
TCGA-UC-A7PF-01A-11D-A351-09	19:5667852-5667852	C	ENSG00000160633	ENST00000292123	Transcript	missense_variant	2691	2584	862	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=SAFB;BIOTYPE=protein_coding;EXON=20/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10520;TSL=1;APPRIS=P3
TCGA-UC-A7PF-01A-11D-A351-09	19:5667852-5667852	C	ENSG00000160633	ENST00000592224	Transcript	missense_variant	2675	2587	863	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=SAFB;BIOTYPE=protein_coding;EXON=20/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10520;TSL=1;APPRIS=A2
TCGA-EA-A3HT-01A-61D-A21Q-09	3:113659095-113659095	G	ENSG00000176542	ENST00000316407	Transcript	missense_variant	2998	2587	863	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=USF3;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30494;TSL=5;APPRIS=P2;SIFT=tolerated_low_confidence(0.19);PolyPhen=benign(0.315)
TCGA-EA-A3HT-01A-61D-A21Q-09	3:113659095-113659095	G	ENSG00000176542	ENST00000478658	Transcript	missense_variant	2605	2587	863	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=USF3;BIOTYPE=protein_coding;EXON=5/5;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30494;TSL=5;APPRIS=P2;SIFT=tolerated_low_confidence(0.19);PolyPhen=benign(0.315)
TCGA-C5-A7X3-01A-11D-A351-09	9:19369939-19369939	G	ENSG00000137145	ENST00000380427	Transcript	missense_variant	2587	2588	863	H/R	cAc/cGc	-	IMPACT=MODERATE;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=10/11;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-JX-A3PZ-01A-11D-A21Q-09	19:1050958-1050958	G	ENSG00000064687	ENST00000263094	Transcript	missense_variant	2821	2590	864	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=19/47;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.812)
TCGA-JX-A3PZ-01A-11D-A21Q-09	19:1050958-1050958	G	ENSG00000064687	ENST00000433129	Transcript	missense_variant	2706	2590	864	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=18/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.812)
TCGA-UC-A7PF-01A-11D-A351-09	19:5667852-5667852	C	ENSG00000160633	ENST00000588852	Transcript	missense_variant	2643	2590	864	A/P	Gct/Cct	-	IMPACT=MODERATE;SYMBOL=SAFB;BIOTYPE=protein_coding;EXON=20/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:10520;TSL=1;APPRIS=A2
TCGA-EK-A2RK-01A-11D-A18J-09	7:4801904-4801904	A	ENSG00000157927	ENST00000399583	Transcript	missense_variant	2779	2591	864	A/V	gCc/gTc	COSM4952260,COSM5345374	IMPACT=MODERATE;SYMBOL=RADIL;BIOTYPE=protein_coding;EXON=12/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:22226;TSL=5;APPRIS=P1;SIFT=tolerated(0.2);PolyPhen=benign(0.003);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A3GJ-01A-21D-A20U-09	7:100682598-100682598	T	ENSG00000146830	ENST00000275732	Transcript	synonymous_variant	3802	2592	864	P	ccG/ccA	rs753032753	IMPACT=LOW;SYMBOL=GIGYF1;BIOTYPE=protein_coding;EXON=20/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9126;TSL=1;APPRIS=P1;ExAC_MAF=C:8.278e-06;ExAC_Adj_MAF=C:1.131e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:2.028e-05;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000557933	Transcript	missense_variant	2680	2593	865	P/T	Cct/Act	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=5;APPRIS=A2;SIFT=deleterious_low_confidence(0.03);PolyPhen=unknown(0);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-FU-A40J-01A-11D-A243-09	19:12868679-12868679	A	ENSG00000105613	ENST00000251472	Transcript	stop_gained	2642	2603	868	W/*	tGg/tAg	-	IMPACT=HIGH;SYMBOL=MAST1;BIOTYPE=protein_coding;EXON=21/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19034;TSL=1;APPRIS=P1
TCGA-EK-A2R8-01A-21D-A18J-09	12:123813354-123813354	G	ENSG00000197653	ENST00000614082	Transcript	missense_variant	3177	2606	869	T/R	aCg/aGg	-	IMPACT=MODERATE;SYMBOL=DNAH10;BIOTYPE=protein_coding;EXON=20/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2941;TSL=5;SIFT=tolerated(0.19);PolyPhen=benign(0.101)
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000460047	Transcript	missense_variant	2608	2608	870	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=22/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated(0.53);PolyPhen=benign(0.063)
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000488470	Transcript	missense_variant	2632	2632	878	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=23/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated(0.52);PolyPhen=benign(0.283)
TCGA-DS-A7WH-01A-22D-A351-09	18:9255921-9255921	C	ENSG00000101745	ENST00000262126	Transcript	missense_variant	2894	2654	885	G/A	gGt/gCt	COSM340115	IMPACT=MODERATE;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3;SIFT=deleterious_low_confidence(0.03);PolyPhen=benign(0.08);SOMATIC=1;PHENO=1
TCGA-C5-A2LZ-01A-11D-A20U-09	5:131671652-131671652	G	ENSG00000217128	ENST00000307954	Transcript	missense_variant	2686	2657	886	W/S	tGg/tCg	-	IMPACT=MODERATE;SYMBOL=FNIP1;BIOTYPE=protein_coding;EXON=13/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29418;TSL=1;SIFT=tolerated(0.45);PolyPhen=probably_damaging(0.996)
TCGA-Q1-A5R2-01A-11D-A28B-09	18:5394771-5394771	G	ENSG00000082397	ENST00000342933	Transcript	missense_variant	3078	2669	890	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=21/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.828)
TCGA-C5-A1BE-01B-11D-A13W-08	9:18776905-18776905	T	ENSG00000178031	ENST00000380548	Transcript	synonymous_variant	3015	2676	892	N	aaC/aaT	rs774233845	IMPACT=LOW;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=19/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=5;APPRIS=P1;ExAC_MAF=A:8.284e-06;ExAC_Adj_MAF=A:9.278e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:7.213e-05
TCGA-EA-A1QT-01A-11D-A14W-08	18:8253378-8253378	A	ENSG00000173482	ENST00000332175	Transcript	synonymous_variant	3716	2679	893	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=17/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=P3
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000470834	Transcript	missense_variant	2686	2686	896	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=22/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated(0.53);PolyPhen=benign(0.086)
TCGA-C5-A2LZ-01A-11D-A20U-09	5:131671652-131671652	G	ENSG00000217128	ENST00000307968	Transcript	missense_variant	2708	2708	903	W/S	tGg/tCg	-	IMPACT=MODERATE;SYMBOL=FNIP1;BIOTYPE=protein_coding;EXON=13/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29418;TSL=5;APPRIS=A2;SIFT=tolerated(0.53);PolyPhen=probably_damaging(1)
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000357327	Transcript	missense_variant	2710	2710	904	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=23/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated(0.54);PolyPhen=probably_damaging(0.981)
TCGA-FU-A23L-01A-11D-A16O-08	16:72122968-72122968	G	ENSG00000118557	ENST00000237353	Transcript	missense_variant	2976	2714	905	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=PMFBP1;BIOTYPE=protein_coding;EXON=19/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17728;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.75)
TCGA-EA-A1QT-01A-11D-A14W-08	18:8253378-8253378	A	ENSG00000173482	ENST00000580170	Transcript	synonymous_variant	3755	2718	906	K	aaG/aaA	-	IMPACT=LOW;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=19/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-C5-A3HE-01A-21D-A22X-09	19:2425109-2425109	T	ENSG00000178297	ENST00000332578	Transcript	missense_variant	2723	2723	908	T/I	aCt/aTt	-	IMPACT=MODERATE;SYMBOL=TMPRSS9;BIOTYPE=protein_coding;EXON=15/17;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30079;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-FU-A23L-01A-11D-A16O-08	16:72122968-72122968	G	ENSG00000118557	ENST00000537465	Transcript	missense_variant	2888	2729	910	G/A	gGa/gCa	-	IMPACT=MODERATE;SYMBOL=PMFBP1;BIOTYPE=protein_coding;EXON=19/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17728;TSL=2;APPRIS=A2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.864)
TCGA-EK-A2RA-01A-11D-A18J-09	9:6012865-6012865	A	ENSG00000137040	ENST00000259569	Transcript	missense_variant	2754	2743	915	R/W	Cgg/Tgg	rs776430811,COSM1462658	IMPACT=MODERATE;SYMBOL=RANBP6;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9851;APPRIS=P1;SIFT=deleterious(0);PolyPhen=benign(0.142);SOMATIC=0,1;PHENO=0,1
TCGA-C5-A3HE-01A-21D-A22X-09	9:5923156-5923156	G	ENSG00000183354	ENST00000381461	Transcript	missense_variant	2750	2750	917	L/P	cTt/cCt	rs764872430,COSM4827617,COSM4827618	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SIFT=tolerated(0.1);PolyPhen=probably_damaging(0.996);ExAC_MAF=G:4.137e-05;ExAC_Adj_MAF=G:4.141e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:7.494e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EK-A2RK-01A-11D-A18J-09	19:42351527-42351527	T	ENSG00000105429	ENST00000334370	Transcript	missense_variant	3388	2753	918	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=MEGF8;BIOTYPE=protein_coding;EXON=16/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3233;TSL=1;APPRIS=P3;SIFT=tolerated(0.18);PolyPhen=benign(0.101)
TCGA-EK-A2RE-01A-11D-A18J-09	17:78449464-78449464	A	ENSG00000187775	ENST00000591369	Transcript	stop_gained,NMD_transcript_variant	2763	2764	922	R/*	Cga/Tga	-	IMPACT=HIGH;SYMBOL=DNAH17;BIOTYPE=nonsense_mediated_decay;EXON=16/28;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2946;TSL=5
TCGA-EA-A43B-01A-81D-A243-09	18:8296421-8296421	C	ENSG00000173482	ENST00000332175	Transcript	missense_variant	3806	2769	923	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=18/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=P3
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000319217	Transcript	missense_variant	3015	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/47;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000381022	Transcript	missense_variant	2989	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000447879	Transcript	missense_variant	2810	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=19/45;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000536827	Transcript	missense_variant	2810	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=19/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000541718	Transcript	missense_variant	2989	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=P3;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-EK-A2RK-01A-11D-A18J-09	9:13176300-13176300	T	ENSG00000107186	ENST00000546205	Transcript	missense_variant	2832	2767	923	L/M	Ttg/Atg	rs763409793	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/48;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;ExAC_MAF=C:3.313e-05;ExAC_Adj_MAF=C:4.482e-05;ExAC_AFR_MAF=C:0;ExAC_AMR_MAF=C:0;ExAC_EAS_MAF=C:0.0006068;ExAC_FIN_MAF=C:0;ExAC_NFE_MAF=C:0;ExAC_OTH_MAF=C:0;ExAC_SAS_MAF=C:0
TCGA-IR-A3LI-01A-11D-A20U-09	5:13885200-13885200	A	ENSG00000039139	ENST00000265104	Transcript	synonymous_variant	2877	2772	924	T	acC/acT	-	IMPACT=LOW;SYMBOL=DNAH5;BIOTYPE=protein_coding;EXON=19/79;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2950;TSL=1;APPRIS=P1
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000284483	Transcript	missense_variant	2773	2773	925	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=23/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=A2;SIFT=tolerated(0.5);PolyPhen=possibly_damaging(0.674)
TCGA-LP-A5U2-01A-11D-A28B-09	17:78449452-78449452	T	ENSG00000187775	ENST00000591369	Transcript	missense_variant,NMD_transcript_variant	2775	2776	926	G/R	Ggg/Agg	-	IMPACT=MODERATE;SYMBOL=DNAH17;BIOTYPE=nonsense_mediated_decay;EXON=16/28;STRAND=-1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2946;TSL=5
TCGA-Q1-A73S-01A-11D-A33O-09	19:11129654-11129654	A	ENSG00000130164	ENST00000252444	Transcript	missense_variant	2785	2786	929	A/D	gCc/gAc	rs121908037,CM950774	IMPACT=MODERATE;SYMBOL=LDLR;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6547;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(1);CLIN_SIG=pathogenic;PHENO=1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	5:131671652-131671652	G	ENSG00000217128	ENST00000510461	Transcript	missense_variant	2888	2792	931	W/S	tGg/tCg	-	IMPACT=MODERATE;SYMBOL=FNIP1;BIOTYPE=protein_coding;EXON=14/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29418;TSL=1;APPRIS=P4;SIFT=tolerated(0.46);PolyPhen=probably_damaging(0.999)
TCGA-JW-A69B-01A-11D-A32I-09	19:6696657-6696657	A	ENSG00000125730	ENST00000245907	Transcript	splice_region_variant,synonymous_variant	2892	2799	933	P	ccG/ccT	rs149209011,COSM713994	IMPACT=LOW;SYMBOL=C3;BIOTYPE=protein_coding;EXON=22/41;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1318;TSL=1;APPRIS=P1;GMAF=T:0.0002;AFR_MAF=T:0.0008;AMR_MAF=T:0.0000;EAS_MAF=T:0.0000;EUR_MAF=T:0.0000;SAS_MAF=T:0.0000;AA_MAF=T:0.0009;EA_MAF=T:0;ExAC_MAF=T:1.153e-04;ExAC_Adj_MAF=T:0.0001153;ExAC_AFR_MAF=T:0.0007688;ExAC_AMR_MAF=T:0.0002591;ExAC_EAS_MAF=T:0.0001156;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:2.997e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1;PHENO=0,1
TCGA-C5-A1MQ-01A-11D-A14W-08	3:171087431-171087431	A	ENSG00000154310	ENST00000436636	Transcript	missense_variant	3142	2797	933	V/L	Gtg/Ttg	-	IMPACT=MODERATE;SYMBOL=TNIK;BIOTYPE=protein_coding;EXON=24/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30765;TSL=1;APPRIS=P3;SIFT=tolerated(0.52);PolyPhen=probably_damaging(0.959)
TCGA-C5-A3HL-01A-11D-A20U-09	5:33576974-33576974	C	ENSG00000151388	ENST00000352040	Transcript	missense_variant	2882	2797	933	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=17/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=A2;SIFT=tolerated(0.89);PolyPhen=possibly_damaging(0.578)
TCGA-EA-A43B-01A-81D-A243-09	18:8296421-8296421	C	ENSG00000173482	ENST00000580170	Transcript	missense_variant	3845	2808	936	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=20/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-C5-A1MH-01A-11D-A14W-08	7:100682189-100682189	G	ENSG00000146830	ENST00000275732	Transcript	synonymous_variant	4018	2808	936	D	gaT/gaC	-	IMPACT=LOW;SYMBOL=GIGYF1;BIOTYPE=protein_coding;EXON=22/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9126;TSL=1;APPRIS=P1
TCGA-EA-A78R-01A-11D-A32I-09	17:78071135-78071135	T	ENSG00000078687	ENST00000335749	Transcript	synonymous_variant	3389	2820	940	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TNRC6C;BIOTYPE=protein_coding;EXON=6/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;TSL=5;APPRIS=P4
TCGA-EA-A78R-01A-11D-A32I-09	17:78071135-78071135	T	ENSG00000078687	ENST00000588847	Transcript	synonymous_variant	3547	2820	940	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TNRC6C;BIOTYPE=protein_coding;EXON=8/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;TSL=5;APPRIS=P4
TCGA-EA-A78R-01A-11D-A32I-09	17:78071135-78071135	T	ENSG00000078687	ENST00000301624	Transcript	synonymous_variant	3398	2829	943	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TNRC6C;BIOTYPE=protein_coding;EXON=6/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;TSL=5;APPRIS=A2
TCGA-EA-A78R-01A-11D-A32I-09	17:78071135-78071135	T	ENSG00000078687	ENST00000588061	Transcript	synonymous_variant	3556	2829	943	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TNRC6C;BIOTYPE=protein_coding;EXON=8/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;TSL=5;APPRIS=A2
TCGA-C5-A2LS-01A-22D-A22X-09	7:44113614-44113615	-	ENSG00000106624	ENST00000223357	Transcript	frameshift_variant	3136	2831	944	R/X	cGa/ca	COSM3881198	IMPACT=HIGH;SYMBOL=AEBP1;BIOTYPE=protein_coding;EXON=21/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:303;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A1M6-01A-11D-A13W-08	16:30721367-30721367	G	ENSG00000080603	ENST00000395059	Transcript	synonymous_variant	3051	2841	947	A	gcC/gcG	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=17/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2
TCGA-C5-A3HE-01A-21D-A22X-09	9:5923156-5923156	G	ENSG00000183354	ENST00000399933	Transcript	missense_variant	2840	2840	947	L/P	cTt/cCt	rs764872430,COSM4827617,COSM4827618	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;APPRIS=P1;SIFT=tolerated(0.1);PolyPhen=probably_damaging(0.987);ExAC_MAF=G:4.137e-05;ExAC_Adj_MAF=G:4.141e-05;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:7.494e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-EA-A411-01A-11D-A243-09	18:2728529-2728529	T	ENSG00000101596	ENST00000320876	Transcript	missense_variant	3184	2846	949	S/F	tCt/tTt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=23/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	16:30721400-30721400	A	ENSG00000080603	ENST00000395059	Transcript	synonymous_variant	3084	2874	958	T	acG/acA	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=17/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2
TCGA-C5-A7UE-01A-11D-A33O-09	18:3126818-3126818	G	ENSG00000101605	ENST00000356443	Transcript	missense_variant	3208	2874	958	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=MYOM1;BIOTYPE=protein_coding;EXON=19/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7613;TSL=1;APPRIS=P4
TCGA-MU-A51Y-01A-11D-A26G-09	3:122284856-122284856	T	ENSG00000283187	ENST00000490131	Transcript	missense_variant	2902	2902	968	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=CASR;BIOTYPE=protein_coding;EXON=6/6;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1514;TSL=1;APPRIS=P1
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000319217	Transcript	synonymous_variant	3152	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/47;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000381022	Transcript	synonymous_variant	3126	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000447879	Transcript	synonymous_variant	2947	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=19/45;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000536827	Transcript	synonymous_variant	2947	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=19/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000541718	Transcript	synonymous_variant	3126	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=P3
TCGA-HM-A3JK-01A-11D-A21Q-09	9:13176163-13176163	A	ENSG00000107186	ENST00000546205	Transcript	synonymous_variant	2969	2904	968	P	ccC/ccT	-	IMPACT=LOW;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=20/48;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049779-13049779	T	ENSG00000101639	ENST00000506447	Transcript	missense_variant	2985	2905	969	P/S	Cct/Tct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=17/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=P2
TCGA-JW-A5VJ-01A-11D-A28B-09	18:13049781-13049781	T	ENSG00000101639	ENST00000506447	Transcript	synonymous_variant	2987	2907	969	S	tcC/tcT	-	IMPACT=LOW;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=17/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=P2
TCGA-C5-A2LZ-01A-11D-A20U-09	1:197128511-197128511	C	ENSG00000066279	ENST00000294732	Transcript	missense_variant	3172	2915	972	S/W	tCg/tGg	-	IMPACT=MODERATE;SYMBOL=ASPM;BIOTYPE=protein_coding;EXON=10/27;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19048;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.996)
TCGA-C5-A2LZ-01A-11D-A20U-09	1:197128511-197128511	C	ENSG00000066279	ENST00000367409	Transcript	missense_variant	3172	2915	972	S/W	tCg/tGg	-	IMPACT=MODERATE;SYMBOL=ASPM;BIOTYPE=protein_coding;EXON=10/28;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19048;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1MH-01A-11D-A14W-08	9:35377653-35377653	C	ENSG00000198722	ENST00000636694	Transcript	missense_variant	3662	2914	972	V/L	Gtg/Ctg	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=8/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566
TCGA-MU-A51Y-01A-11D-A26G-09	3:122284856-122284856	T	ENSG00000036828	ENST00000498619	Transcript	missense_variant	3370	2932	978	L/F	Ctt/Ttt	-	IMPACT=MODERATE;SYMBOL=CASR;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1514;TSL=1;APPRIS=P1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382297	Transcript	missense_variant	3070	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=5/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382303	Transcript	missense_variant	3600	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=9/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000619269	Transcript	missense_variant	3706	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382297	Transcript	missense_variant	3070	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=5/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382303	Transcript	missense_variant	3600	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=9/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000619269	Transcript	missense_variant	3706	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382297	Transcript	missense_variant	3070	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=5/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382303	Transcript	missense_variant	3600	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=9/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000619269	Transcript	missense_variant	3706	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382297	Transcript	missense_variant	3070	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=5/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000382303	Transcript	missense_variant	3600	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=9/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M9-01A-11D-A13W-08	9:731209-731209	A	ENSG00000107104	ENST00000619269	Transcript	missense_variant	3706	2948	983	G/D	gGt/gAt	COSM4830969,COSM4830970	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=possibly_damaging(0.703);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RK-01A-11D-A18J-09	19:42351527-42351527	T	ENSG00000105429	ENST00000251268	Transcript	missense_variant	2954	2954	985	S/F	tCc/tTc	-	IMPACT=MODERATE;SYMBOL=MEGF8;BIOTYPE=protein_coding;EXON=17/42;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3233;TSL=5;APPRIS=A2;SIFT=tolerated(0.25);PolyPhen=benign(0.417)
TCGA-C5-A7UH-01A-11D-A351-09	9:33463870-33463870	T	ENSG00000165271	ENST00000297990	Transcript	synonymous_variant	3043	2955	985	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=NOL6;BIOTYPE=protein_coding;EXON=23/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19910;TSL=1;APPRIS=P1
TCGA-C5-A7UH-01A-11D-A351-09	9:33463870-33463870	T	ENSG00000165271	ENST00000379471	Transcript	synonymous_variant	3043	2955	985	E	gaG/gaA	-	IMPACT=LOW;SYMBOL=NOL6;BIOTYPE=protein_coding;EXON=23/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19910;TSL=5
TCGA-RA-A741-01A-11D-A33O-09	4:37444950-37444950	A	ENSG00000174145	ENST00000309447	Transcript	missense_variant	3810	2962	988	H/N	Cat/Aat	-	IMPACT=MODERATE;SYMBOL=NWD2;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29229;TSL=5;APPRIS=P1
TCGA-EK-A3GJ-01A-21D-A20U-09	11:101981896-101981896	A	ENSG00000110318	ENST00000263468	Transcript	missense_variant	3236	2966	989	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=CEP126;BIOTYPE=protein_coding;EXON=8/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29264;TSL=1;APPRIS=P2;SIFT=tolerated(0.44);PolyPhen=benign(0.028)
TCGA-HM-A3JK-01A-11D-A21Q-09	11:17118705-17118705	A	ENSG00000011405	ENST00000265970	Transcript	missense_variant	2975	2975	992	S/L	tCa/tTa	-	IMPACT=MODERATE;SYMBOL=PIK3C2A;BIOTYPE=protein_coding;EXON=17/32;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8971;TSL=1;APPRIS=P1
TCGA-EK-A2PM-01A-11D-A18J-09	18:2762231-2762231	G	ENSG00000101596	ENST00000577880	Transcript	missense_variant,NMD_transcript_variant	2974	2974	992	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=nonsense_mediated_decay;EXON=25/38;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=2;SIFT=tolerated(0.05);PolyPhen=benign(0.008)
TCGA-LP-A7HU-01A-11D-A33O-09	4:37444966-37444966	T	ENSG00000174145	ENST00000309447	Transcript	missense_variant	3826	2978	993	N/I	aAc/aTc	-	IMPACT=MODERATE;SYMBOL=NWD2;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29229;TSL=5;APPRIS=P1;SIFT=tolerated(0.71);PolyPhen=benign(0.119)
TCGA-EA-A6QX-01A-12D-A33O-09	6:12122774-12122774	T	ENSG00000095951	ENST00000379388	Transcript	synonymous_variant	3311	2979	993	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=1;APPRIS=P2
TCGA-EA-A6QX-01A-12D-A33O-09	6:12122774-12122774	T	ENSG00000095951	ENST00000541134	Transcript	synonymous_variant	3311	2979	993	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=HIVEP1;BIOTYPE=protein_coding;EXON=4/9;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:4920;TSL=5;APPRIS=A2
TCGA-EK-A2R8-01A-21D-A18J-09	12:123813354-123813354	G	ENSG00000197653	ENST00000638045	Transcript	missense_variant	3006	2981	994	T/R	aCg/aGg	-	IMPACT=MODERATE;SYMBOL=DNAH10;BIOTYPE=protein_coding;EXON=19/78;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2941;APPRIS=A2;SIFT=tolerated(0.44);PolyPhen=benign(0.02)
TCGA-EK-A2PM-01A-11D-A18J-09	18:13049854-13049854	G	ENSG00000101639	ENST00000506447	Transcript	missense_variant	3060	2980	994	P/A	Cct/Gct	-	IMPACT=MODERATE;SYMBOL=CEP192;BIOTYPE=protein_coding;EXON=17/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25515;TSL=5;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.884)
TCGA-EK-A2RN-01A-12D-A20U-09	9:731244-731244	T	ENSG00000107104	ENST00000382297	Transcript	stop_gained	3105	2983	995	Q/*	Cag/Tag	COSM4823218,COSM4823219	IMPACT=HIGH;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=5/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RN-01A-12D-A20U-09	9:731244-731244	T	ENSG00000107104	ENST00000382303	Transcript	stop_gained	3635	2983	995	Q/*	Cag/Tag	COSM4823218,COSM4823219	IMPACT=HIGH;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=9/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RN-01A-12D-A20U-09	9:731244-731244	T	ENSG00000107104	ENST00000619269	Transcript	stop_gained	3741	2983	995	Q/*	Cag/Tag	COSM4823218,COSM4823219	IMPACT=HIGH;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=6/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SOMATIC=1,1;PHENO=1,1
TCGA-JX-A3Q8-01A-11D-A21Q-09	14:73719422-73719422	T	ENSG00000156030	ENST00000286523	Transcript	missense_variant	3800	3017	1006	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=ELMSAN1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19853;TSL=1;SIFT=tolerated(0.57);PolyPhen=benign(0.008)
TCGA-JX-A3Q8-01A-11D-A21Q-09	14:73719422-73719422	T	ENSG00000156030	ENST00000394071	Transcript	missense_variant	3421	3017	1006	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=ELMSAN1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19853;TSL=1;SIFT=tolerated(0.57);PolyPhen=benign(0.008)
TCGA-JX-A3Q8-01A-11D-A21Q-09	14:73719422-73719422	T	ENSG00000156030	ENST00000423556	Transcript	missense_variant	3264	3017	1006	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=ELMSAN1;BIOTYPE=protein_coding;EXON=11/12;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19853;TSL=2;APPRIS=P1;PolyPhen=benign(0.004)
TCGA-JX-A3Q8-01A-11D-A21Q-09	14:73719422-73719422	T	ENSG00000156030	ENST00000435371	Transcript	missense_variant	3800	3017	1006	R/K	aGg/aAg	-	IMPACT=MODERATE;SYMBOL=ELMSAN1;BIOTYPE=protein_coding;EXON=12/12;STRAND=-1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19853;TSL=1;SIFT=tolerated_low_confidence(0.54);PolyPhen=benign(0.008)
TCGA-Q1-A5R2-01A-11D-A28B-09	18:5394771-5394771	G	ENSG00000082397	ENST00000400111	Transcript	missense_variant	3119	3053	1018	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=19/20;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=5
TCGA-C5-A3HL-01A-11D-A20U-09	5:33576974-33576974	C	ENSG00000151388	ENST00000504830	Transcript	missense_variant	3388	3052	1018	P/A	Cca/Gca	-	IMPACT=MODERATE;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=19/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=P2;SIFT=tolerated(0.8);PolyPhen=benign(0.02)
TCGA-C5-A2LZ-01A-11D-A20U-09	9:5123014-5123014	T	ENSG00000096968	ENST00000381652	Transcript	stop_gained	3564	3070	1024	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=JAK2;BIOTYPE=protein_coding;EXON=23/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6192;TSL=1;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	4:13603815-13603815	T	ENSG00000038219	ENST00000040738	Transcript	missense_variant	3221	3085	1029	G/S	Ggt/Agt	COSM4453529	IMPACT=MODERATE;SYMBOL=BOD1L1;BIOTYPE=protein_coding;EXON=10/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31792;TSL=2;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000533727	Transcript	missense_variant	3337	3096	1032	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=18/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.998)
TCGA-C5-A7UH-01A-11D-A351-09	X:35993317-35993317	G	ENSG00000165164	ENST00000378653	Transcript	missense_variant	3161	3095	1032	A/G	gCa/gGa	-	IMPACT=MODERATE;SYMBOL=CFAP47;BIOTYPE=protein_coding;EXON=18/64;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26708;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=unknown(0)
TCGA-EA-A50E-01A-21D-A26G-09	9:5123048-5123048	T	ENSG00000096968	ENST00000381652	Transcript	missense_variant	3598	3104	1035	S/L	tCa/tTa	COSM4822235	IMPACT=MODERATE;SYMBOL=JAK2;BIOTYPE=protein_coding;EXON=23/25;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6192;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1;PHENO=1
TCGA-LP-A4AW-01A-11D-A243-09	9:33366700-33366700	T	ENSG00000086102	ENST00000379540	Transcript	synonymous_variant	3173	3111	1037	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=NFX1;BIOTYPE=protein_coding;EXON=22/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7803;TSL=1;APPRIS=P1
TCGA-EK-A2RJ-01A-11D-A18J-09	9:7174698-7174698	G	ENSG00000107077	ENST00000381309	Transcript	missense_variant	3705	3140	1047	S/C	tCt/tGt	COSM4831739	IMPACT=MODERATE;SYMBOL=KDM4C;BIOTYPE=protein_coding;EXON=22/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17071;TSL=1;APPRIS=P1;SIFT=tolerated(0.08);PolyPhen=probably_damaging(0.987);SOMATIC=1;PHENO=1
TCGA-DG-A2KL-01A-11D-A17W-09	4:37445135-37445135	G	ENSG00000174145	ENST00000309447	Transcript	missense_variant	3995	3147	1049	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=NWD2;BIOTYPE=protein_coding;EXON=7/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29229;TSL=5;APPRIS=P1;SIFT=deleterious(0.02);PolyPhen=possibly_damaging(0.615)
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000356435	Transcript	missense_variant	3263	3157	1053	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=19/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=probably_damaging(0.978);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000381196	Transcript	missense_variant	3701	3157	1053	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=27/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=probably_damaging(0.978);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-C5-A2LZ-01A-11D-A20U-09	9:8484375-8484375	A	ENSG00000153707	ENST00000540109	Transcript	missense_variant	3263	3157	1053	L/F	Ctt/Ttt	COSM163849,COSM180073,COSM3927079,COSM3927080,COSM3927081,COSM3927082,COSM3927083,COSM4810205,COSM4810206,COSM4810207,COSM4810208	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=19/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.23);PolyPhen=probably_damaging(0.978);SOMATIC=1,1,1,1,1,1,1,1,1,1,1;PHENO=1,1,1,1,1,1,1,1,1,1,1
TCGA-EK-A2R8-01A-21D-A18J-09	12:123813354-123813354	G	ENSG00000197653	ENST00000409039	Transcript	missense_variant	3313	3164	1055	T/R	aCg/aGg	-	IMPACT=MODERATE;SYMBOL=DNAH10;BIOTYPE=protein_coding;EXON=19/78;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2941;TSL=5;APPRIS=P2;SIFT=tolerated(0.43)
TCGA-Q1-A5R2-01A-11D-A28B-09	18:5394771-5394771	G	ENSG00000082397	ENST00000341928	Transcript	missense_variant	3517	3176	1059	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=EPB41L3;BIOTYPE=protein_coding;EXON=22/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3380;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.988)
TCGA-MY-A5BD-01A-11D-A26G-09	4:13603720-13603720	T	ENSG00000038219	ENST00000040738	Transcript	synonymous_variant	3316	3180	1060	S	tcG/tcA	rs753148013	IMPACT=LOW;SYMBOL=BOD1L1;BIOTYPE=protein_coding;EXON=10/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31792;TSL=2;APPRIS=P1;ExAC_MAF=A:8.237e-06;ExAC_Adj_MAF=A:8.252e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.058e-05
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000314845	Transcript	missense_variant	3543	3183	1061	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=19/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.997)
TCGA-EK-A2R7-01A-11D-A18J-09	9:33922757-33922757	C	ENSG00000137073	ENST00000360802	Transcript	missense_variant	3307	3194	1065	P/R	cCa/cGa	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=28/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=unknown(0)
TCGA-EK-A2R7-01A-11D-A18J-09	9:33922757-33922757	C	ENSG00000137073	ENST00000379238	Transcript	missense_variant	3312	3194	1065	P/R	cCa/cGa	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=28/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=unknown(0)
TCGA-C5-A1BM-01A-11D-A13W-08	17:29631855-29631855	T	ENSG00000141298	ENST00000269033	Transcript	synonymous_variant	3410	3258	1086	Q	caG/caA	rs776087696	IMPACT=LOW;SYMBOL=SSH2;BIOTYPE=protein_coding;EXON=15/15;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30580;TSL=1;APPRIS=P3;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:9.61e-05;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000534300	Transcript	missense_variant	3587	3273	1091	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=17/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-BI-A0VS-01A-11D-A10S-08	9:18777507-18777507	A	ENSG00000178031	ENST00000380548	Transcript	missense_variant	3617	3278	1093	R/H	cGc/cAc	COSM4970181	IMPACT=MODERATE;SYMBOL=ADAMTSL1;BIOTYPE=protein_coding;EXON=19/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14632;TSL=5;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.433);SOMATIC=1;PHENO=1
TCGA-HM-A4S6-01A-11D-A26G-09	19:4222784-4222784	T	ENSG00000089847	ENST00000318934	Transcript	stop_gained	3442	3286	1096	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=19/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=P2
TCGA-HM-A4S6-01A-11D-A26G-09	19:4222784-4222784	T	ENSG00000089847	ENST00000600132	Transcript	stop_gained	3562	3286	1096	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=20/22;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=P2
TCGA-EA-A1QS-01A-61D-A22X-09	9:14805125-14805125	T	ENSG00000164946	ENST00000380875	Transcript	missense_variant,NMD_transcript_variant	4118	3302	1101	A/D	gCt/gAt	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=nonsense_mediated_decay;EXON=20/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=1;SIFT=tolerated(0.8);PolyPhen=benign(0.073)
TCGA-EA-A1QS-01A-61D-A22X-09	9:14805125-14805125	T	ENSG00000164946	ENST00000380880	Transcript	missense_variant	4086	3302	1101	A/D	gCt/gAt	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=protein_coding;EXON=19/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=5;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=benign(0.003)
TCGA-EA-A1QS-01A-61D-A22X-09	9:14805125-14805125	T	ENSG00000164946	ENST00000422223	Transcript	missense_variant	4118	3302	1101	A/D	gCt/gAt	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=protein_coding;EXON=20/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=5;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=benign(0.003)
TCGA-FU-A3WB-01A-11D-A22X-09	19:1785271-1785271	C	ENSG00000130270	ENST00000525591	Transcript	synonymous_variant	3531	3309	1103	T	acC/acG	rs766896437	IMPACT=LOW;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=27/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=1;APPRIS=A2;ExAC_MAF=A:4.948e-05;ExAC_Adj_MAF=A:7.243e-05;ExAC_AFR_MAF=A:0.0004437;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:6.241e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-EK-A2RA-01A-11D-A18J-09	1:46032303-46032303	G	ENSG00000086015	ENST00000361297	Transcript	missense_variant	3596	3313	1105	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=MAST2;BIOTYPE=protein_coding;EXON=25/29;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19035;TSL=1;APPRIS=P1;SIFT=tolerated_low_confidence(0.1);PolyPhen=benign(0.038)
TCGA-C5-A1BI-01B-11D-A13W-08	5:5306632-5306632	A	ENSG00000145536	ENST00000274181	Transcript	synonymous_variant	3453	3315	1105	L	ctG/ctA	rs771745656	IMPACT=LOW;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=21/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=2;APPRIS=P1;ExAC_MAF=T:4.137e-05;ExAC_Adj_MAF=T:4.153e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:7.522e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-RA-A741-01A-11D-A33O-09	9:20929595-20929595	T	ENSG00000188352	ENST00000338382	Transcript	missense_variant,splice_region_variant	3349	3316	1106	G/C	Ggt/Tgt	-	IMPACT=MODERATE;SYMBOL=FOCAD;BIOTYPE=protein_coding;EXON=26/43;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23377;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-RA-A741-01A-11D-A33O-09	9:20929595-20929595	T	ENSG00000188352	ENST00000380249	Transcript	missense_variant,splice_region_variant	3680	3316	1106	G/C	Ggt/Tgt	-	IMPACT=MODERATE;SYMBOL=FOCAD;BIOTYPE=protein_coding;EXON=29/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23377;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.994)
TCGA-C5-A1MQ-01A-11D-A14W-08	3:52513765-52513765	T	ENSG00000010327	ENST00000321725	Transcript	missense_variant	3395	3319	1107	A/S	Gcc/Tcc	-	IMPACT=MODERATE;SYMBOL=STAB1;BIOTYPE=protein_coding;EXON=31/69;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18628;TSL=1;APPRIS=P1;SIFT=tolerated(0.5);PolyPhen=benign(0.062)
TCGA-C5-A3HE-01A-21D-A22X-09	11:6632183-6632183	C	ENSG00000166341	ENST00000299441	Transcript	missense_variant	3741	3329	1110	T/S	aCc/aGc	-	IMPACT=MODERATE;SYMBOL=DCHS1;BIOTYPE=protein_coding;EXON=6/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13681;TSL=1;APPRIS=P1;SIFT=tolerated(0.11);PolyPhen=benign(0.109)
TCGA-EK-A2R8-01A-21D-A18J-09	15:42684915-42684915	C	ENSG00000159433	ENST00000290607	Transcript	missense_variant	3394	3337	1113	A/P	Gca/Cca	-	IMPACT=MODERATE;SYMBOL=STARD9;BIOTYPE=protein_coding;EXON=23/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19162;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.978)
TCGA-C5-A1BM-01A-11D-A13W-08	17:29631855-29631855	T	ENSG00000141298	ENST00000540801	Transcript	synonymous_variant	3432	3339	1113	Q	caG/caA	rs776087696	IMPACT=LOW;SYMBOL=SSH2;BIOTYPE=protein_coding;EXON=16/16;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:30580;TSL=2;APPRIS=A2;ExAC_MAF=T:8.236e-06;ExAC_Adj_MAF=T:8.237e-06;ExAC_AFR_MAF=T:9.61e-05;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-Q1-A5R2-01A-11D-A28B-09	9:33922521-33922521	A	ENSG00000137073	ENST00000360802	Transcript	missense_variant	3456	3343	1115	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=29/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;APPRIS=P1;SIFT=tolerated(0.49);PolyPhen=unknown(0)
TCGA-Q1-A5R2-01A-11D-A28B-09	9:33922521-33922521	A	ENSG00000137073	ENST00000379238	Transcript	missense_variant	3461	3343	1115	P/S	Cca/Tca	-	IMPACT=MODERATE;SYMBOL=UBAP2;BIOTYPE=protein_coding;EXON=29/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14185;TSL=5;APPRIS=P1;SIFT=tolerated(0.49);PolyPhen=unknown(0)
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000533727	Transcript	synonymous_variant	3592	3351	1117	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=18/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1
TCGA-Q1-A6DT-01A-11D-A32I-09	X:153579990-153579990	T	ENSG00000067842	ENST00000263519	Transcript	stop_gained	3481	3355	1119	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ATP2B3;BIOTYPE=protein_coding;EXON=20/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:816;TSL=1;APPRIS=P1
TCGA-Q1-A6DT-01A-11D-A32I-09	X:153579990-153579990	T	ENSG00000067842	ENST00000349466	Transcript	stop_gained	3681	3355	1119	E/*	Gaa/Taa	-	IMPACT=HIGH;SYMBOL=ATP2B3;BIOTYPE=protein_coding;EXON=21/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:816;TSL=5;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000528950	Transcript	missense_variant	3658	3366	1122	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=17/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=5;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1MK-01A-11D-A14W-08	5:5306693-5306693	A	ENSG00000145536	ENST00000274181	Transcript	missense_variant	3514	3376	1126	A/T	Gcg/Acg	-	IMPACT=MODERATE;SYMBOL=ADAMTS16;BIOTYPE=protein_coding;EXON=21/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17108;TSL=2;APPRIS=P1;SIFT=tolerated(0.54);PolyPhen=benign(0.007)
TCGA-C5-A3HD-01B-11D-A20U-09	16:67229811-67229811	T	ENSG00000135723	ENST00000258201	Transcript	missense_variant	3642	3394	1132	R/S	Cgc/Agc	rs775105803	IMPACT=MODERATE;SYMBOL=FHOD1;BIOTYPE=protein_coding;EXON=21/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:17905;TSL=1;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.998);ExAC_MAF=A:8.236e-06;ExAC_Adj_MAF=A:8.245e-06;ExAC_AFR_MAF=A:0;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:0;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:6.056e-05
TCGA-UC-A7PF-01A-11D-A351-09	9:32632175-32632175	C	ENSG00000122728	ENST00000242310	Transcript	missense_variant	3495	3405	1135	H/Q	caC/caG	rs754836999	IMPACT=MODERATE;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1;ExAC_MAF=G:8.236e-06;ExAC_Adj_MAF=G:8.237e-06;ExAC_AFR_MAF=G:0;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:1.498e-05;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-EK-A2RN-01A-12D-A20U-09	18:2738531-2738531	T	ENSG00000101596	ENST00000320876	Transcript	synonymous_variant	3749	3411	1137	S	agC/agT	-	IMPACT=LOW;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=26/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000450198	Transcript	missense_variant	3631	3409	1137	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=25/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.934);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1M6-01A-11D-A13W-08	17:10400712-10400712	C	ENSG00000133020	ENST00000403437	Transcript	missense_variant	3508	3413	1138	P/R	cCg/cGg	-	IMPACT=MODERATE;SYMBOL=MYH8;BIOTYPE=protein_coding;EXON=27/40;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7578;TSL=5;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=benign(0.011)
TCGA-LP-A4AW-01A-11D-A243-09	5:33576359-33576359	G	ENSG00000151388	ENST00000352040	Transcript	missense_variant	3497	3412	1138	G/R	Ggc/Cgc	-	IMPACT=MODERATE;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=17/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=A2;SIFT=tolerated(0.27);PolyPhen=benign(0.113)
TCGA-FU-A3WB-01A-11D-A22X-09	19:1785271-1785271	C	ENSG00000130270	ENST00000310127	Transcript	synonymous_variant	3659	3420	1140	T	acC/acG	rs766896437	IMPACT=LOW;SYMBOL=ATP8B3;BIOTYPE=protein_coding;EXON=27/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:13535;TSL=1;APPRIS=P3;ExAC_MAF=A:4.948e-05;ExAC_Adj_MAF=A:7.243e-05;ExAC_AFR_MAF=A:0.0004437;ExAC_AMR_MAF=A:0;ExAC_EAS_MAF=A:0;ExAC_FIN_MAF=A:0;ExAC_NFE_MAF=A:6.241e-05;ExAC_OTH_MAF=A:0;ExAC_SAS_MAF=A:0
TCGA-LP-A4AV-01A-11D-A243-09	3:48415040-48415040	T	ENSG00000164050	ENST00000456774	Transcript	missense_variant,splice_region_variant	3419	3419	1140	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=PLXNB1;BIOTYPE=protein_coding;EXON=20/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9103;TSL=1;APPRIS=A2;SIFT=tolerated(0.64);PolyPhen=possibly_damaging(0.827)
TCGA-C5-A1M6-01A-11D-A13W-08	16:30721367-30721367	G	ENSG00000080603	ENST00000262518	Transcript	synonymous_variant	3817	3432	1144	A	gcC/gcG	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=21/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2;APPRIS=P1
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000314845	Transcript	synonymous_variant	3798	3438	1146	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=19/19;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1;APPRIS=P1
TCGA-EA-A78R-01A-11D-A32I-09	17:78071135-78071135	T	ENSG00000078687	ENST00000636222	Transcript	synonymous_variant	3516	3450	1150	L	ctC/ctT	-	IMPACT=LOW;SYMBOL=TNRC6C;BIOTYPE=protein_coding;EXON=8/23;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29318;APPRIS=A2
TCGA-DG-A2KK-01A-11D-A17W-09	11:46397894-46397894	C	ENSG00000110497	ENST00000458649	Transcript	missense_variant	3872	3453	1151	I/M	atC/atG	-	IMPACT=MODERATE;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=18/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.997)
TCGA-DS-A0VM-01A-11D-A10S-08	16:30721400-30721400	A	ENSG00000080603	ENST00000262518	Transcript	synonymous_variant	3850	3465	1155	T	acG/acA	-	IMPACT=LOW;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=21/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2;APPRIS=P1
TCGA-Q1-A6DT-01A-11D-A32I-09	X:153579990-153579990	T	ENSG00000067842	ENST00000370186	Transcript	missense_variant	3793	3467	1156	G/V	gGa/gTa	-	IMPACT=MODERATE;SYMBOL=ATP2B3;BIOTYPE=protein_coding;EXON=21/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:816;TSL=5;SIFT=deleterious_low_confidence(0.01);PolyPhen=benign(0.002)
TCGA-JX-A5QV-01A-22D-A28B-09	6:31996297-31996297	A	ENSG00000244731	ENST00000428956	Transcript	missense_variant	3562	3478	1160	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=C4A;BIOTYPE=protein_coding;EXON=27/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1323;TSL=1;APPRIS=P1;SIFT=tolerated(1);PolyPhen=benign(0.002)
TCGA-JX-A5QV-01A-22D-A28B-09	6:31996297-31996297	A	ENSG00000244731	ENST00000498271	Transcript	missense_variant	3518	3478	1160	G/S	Ggt/Agt	-	IMPACT=MODERATE;SYMBOL=C4A;BIOTYPE=protein_coding;EXON=27/40;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:1323;TSL=1;SIFT=tolerated(1);PolyPhen=benign(0.002)
TCGA-EX-A3L1-01A-11D-A21Q-09	9:39361204-39361204	A	ENSG00000204849	ENST00000377647	Transcript	missense_variant	3501	3481	1161	G/S	Ggc/Agc	-	IMPACT=MODERATE;SYMBOL=SPATA31A1;BIOTYPE=protein_coding;EXON=4/4;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23394;TSL=1;APPRIS=P1;SIFT=tolerated(0.51);PolyPhen=probably_damaging(0.931)
TCGA-C5-A1BM-01A-11D-A13W-08	9:14801858-14801858	G	ENSG00000164946	ENST00000380875	Transcript	missense_variant,NMD_transcript_variant	4304	3488	1163	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=nonsense_mediated_decay;EXON=21/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=1;SIFT=tolerated(0.15);PolyPhen=benign(0.008)
TCGA-C5-A1BM-01A-11D-A13W-08	9:14801858-14801858	G	ENSG00000164946	ENST00000380880	Transcript	missense_variant	4272	3488	1163	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=protein_coding;EXON=20/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=5;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.009)
TCGA-C5-A1BM-01A-11D-A13W-08	9:14801858-14801858	G	ENSG00000164946	ENST00000422223	Transcript	missense_variant	4304	3488	1163	R/T	aGg/aCg	-	IMPACT=MODERATE;SYMBOL=FREM1;BIOTYPE=protein_coding;EXON=21/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23399;TSL=5;APPRIS=P1;SIFT=tolerated(0.05);PolyPhen=benign(0.009)
TCGA-Q1-A6DT-01A-11D-A32I-09	X:153579990-153579990	T	ENSG00000067842	ENST00000359149	Transcript	missense_variant	3635	3509	1170	G/V	gGa/gTa	-	IMPACT=MODERATE;SYMBOL=ATP2B3;BIOTYPE=protein_coding;EXON=21/21;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:816;TSL=1;SIFT=deleterious_low_confidence(0.01);PolyPhen=benign(0.167)
TCGA-FU-A40J-01A-11D-A243-09	5:72196870-72196870	T	ENSG00000131711	ENST00000296755	Transcript	missense_variant	3813	3515	1172	R/L	cGg/cTg	-	IMPACT=MODERATE;SYMBOL=MAP1B;BIOTYPE=protein_coding;EXON=5/7;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6836;TSL=2;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.989)
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000534300	Transcript	synonymous_variant	3842	3528	1176	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=17/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=1
TCGA-FU-A770-01A-11D-A33O-09	9:35403968-35403968	A	ENSG00000198722	ENST00000378496	Transcript	missense_variant	4977	3529	1177	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=41/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-FU-A770-01A-11D-A33O-09	9:35403968-35403968	A	ENSG00000198722	ENST00000617908	Transcript	missense_variant	5066	3529	1177	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=41/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-FU-A5XV-01A-11D-A28B-09	5:5462874-5462874	C	ENSG00000164151	ENST00000296564	Transcript	missense_variant	3762	3540	1180	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=ICE1;BIOTYPE=protein_coding;EXON=13/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29154;TSL=1;APPRIS=P2;SIFT=deleterious(0.01);PolyPhen=probably_damaging(0.97)
TCGA-LP-A5U2-01A-11D-A28B-09	6:17626044-17626044	C	ENSG00000124789	ENST00000613258	Transcript	missense_variant	3986	3539	1180	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=NUP153;BIOTYPE=protein_coding;EXON=18/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8062;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.477)
TCGA-FU-A40J-01A-11D-A243-09	9:745203-745203	G	ENSG00000107104	ENST00000382293	Transcript	missense_variant	4349	3553	1185	P/A	Cct/Gct	COSM3358362,COSM3358363,COSM4843909,COSM4843910	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=11/11;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-HM-A4S6-01A-11D-A26G-09	19:4222784-4222784	T	ENSG00000089847	ENST00000262970	Transcript	stop_gained	3556	3556	1186	Q/*	Cag/Tag	-	IMPACT=HIGH;SYMBOL=ANKRD24;BIOTYPE=protein_coding;EXON=18/20;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29424;TSL=5;APPRIS=A2
TCGA-IR-A3L7-01A-21D-A20U-09	18:9256897-9256897	T	ENSG00000101745	ENST00000400020	Transcript	synonymous_variant	3923	3561	1187	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=8/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=A2
TCGA-LP-A4AV-01A-11D-A243-09	18:7011412-7011412	T	ENSG00000101680	ENST00000389658	Transcript	missense_variant	3669	3575	1192	G/E	gGg/gAg	-	IMPACT=MODERATE;SYMBOL=LAMA1;BIOTYPE=protein_coding;EXON=25/63;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6481;TSL=2;APPRIS=P1
TCGA-C5-A1BF-01B-11D-A13W-08	19:617576-617576	A	ENSG00000099821	ENST00000588649	Transcript	missense_variant	3667	3575	1192	C/F	tGc/tTc	COSM4836722,COSM4836723	IMPACT=MODERATE;SYMBOL=POLRMT;BIOTYPE=protein_coding;EXON=19/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9200;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);SOMATIC=1,1;PHENO=1,1
TCGA-BI-A20A-01A-11D-A14W-08	2:238249104-238249105	-	ENSG00000132326	ENST00000254657	Transcript	frameshift_variant	3855	3575	1192	P/X	cCg/cg	-	IMPACT=HIGH;SYMBOL=PER2;BIOTYPE=protein_coding;EXON=22/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8846;TSL=1;APPRIS=P1
TCGA-DS-A0VM-01A-11D-A10S-08	18:2740770-2740770	T	ENSG00000101596	ENST00000320876	Transcript	synonymous_variant	3920	3582	1194	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=28/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000349721	Transcript	missense_variant	3736	3583	1195	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=25/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.861);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000357248	Transcript	missense_variant	3838	3583	1195	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=25/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.934);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000382194	Transcript	missense_variant	3705	3583	1195	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=25/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.934);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000382203	Transcript	missense_variant	3792	3583	1195	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=25/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.861);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2115948-2115948	C	ENSG00000080503	ENST00000634760	Transcript	missense_variant,NMD_transcript_variant	3931	3583	1195	D/H	Gat/Cat	COSM4833909,COSM4833910	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=nonsense_mediated_decay;EXON=25/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.934);SOMATIC=1,1;PHENO=1,1
TCGA-EK-A2RN-01A-12D-A20U-09	18:2740790-2740790	A	ENSG00000101596	ENST00000320876	Transcript	missense_variant	3940	3602	1201	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=28/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-FU-A2QG-01A-11D-A18J-09	19:2225393-2225393	C	ENSG00000104885	ENST00000398665	Transcript	missense_variant	3638	3602	1201	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=26/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=benign(0.107)
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000528950	Transcript	synonymous_variant	3913	3621	1207	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=17/17;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=5
TCGA-IR-A3L7-01A-21D-A20U-09	18:9256897-9256897	T	ENSG00000101745	ENST00000262126	Transcript	synonymous_variant	3870	3630	1210	A	gcG/gcT	-	IMPACT=LOW;SYMBOL=ANKRD12;BIOTYPE=protein_coding;EXON=9/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29135;TSL=1;APPRIS=P3
TCGA-EK-A2PM-01A-11D-A18J-09	18:14851937-14851937	A	ENSG00000180777	ENST00000358984	Transcript	synonymous_variant	3816	3636	1212	Q	caG/caA	COSM401754	IMPACT=LOW;SYMBOL=ANKRD30B;BIOTYPE=protein_coding;EXON=36/36;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24165;TSL=1;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000356435	Transcript	missense_variant	3759	3653	1218	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=21/35;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.49);PolyPhen=probably_damaging(0.956);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000381196	Transcript	missense_variant	4197	3653	1218	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=29/43;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.49);PolyPhen=probably_damaging(0.956);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-C5-A2LX-01A-11D-A18J-09	9:8465527-8465527	C	ENSG00000153707	ENST00000540109	Transcript	missense_variant	3759	3653	1218	Q/R	cAa/cGa	COSM4827490,COSM4827491,COSM4827492,COSM4827493,COSM4827494,COSM4827495	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=21/36;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;APPRIS=P1;SIFT=tolerated(0.49);PolyPhen=probably_damaging(0.956);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-LP-A5U2-01A-11D-A28B-09	6:17626044-17626044	C	ENSG00000124789	ENST00000262077	Transcript	missense_variant	3665	3665	1222	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=NUP153;BIOTYPE=protein_coding;EXON=19/22;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8062;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.477)
TCGA-LP-A4AW-01A-11D-A243-09	5:33576359-33576359	G	ENSG00000151388	ENST00000504830	Transcript	missense_variant	4003	3667	1223	G/R	Ggc/Cgc	-	IMPACT=MODERATE;SYMBOL=ADAMTS12;BIOTYPE=protein_coding;EXON=19/24;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:14605;TSL=1;APPRIS=P2;SIFT=tolerated(0.1);PolyPhen=benign(0.006)
TCGA-C5-A1BE-01B-11D-A13W-08	18:8380408-8380408	A	ENSG00000173482	ENST00000400053	Transcript	missense_variant	4099	3674	1225	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=27/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-C5-A7CJ-01A-11D-A32I-09	11:46397639-46397639	T	ENSG00000110497	ENST00000458649	Transcript	synonymous_variant	4127	3708	1236	P	ccC/ccA	-	IMPACT=LOW;SYMBOL=AMBRA1;BIOTYPE=protein_coding;EXON=18/18;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:25990;TSL=2
TCGA-JW-A69B-01A-11D-A32I-09	6:43040984-43040984	T	ENSG00000044090	ENST00000265348	Transcript	missense_variant	3823	3737	1246	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=CUL7;BIOTYPE=protein_coding;EXON=20/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21024;TSL=1;APPRIS=P3
TCGA-LP-A5U2-01A-11D-A28B-09	6:17626044-17626044	C	ENSG00000124789	ENST00000537253	Transcript	missense_variant	4205	3758	1253	P/R	cCt/cGt	-	IMPACT=MODERATE;SYMBOL=NUP153;BIOTYPE=protein_coding;EXON=20/23;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:8062;TSL=2;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.92)
TCGA-MU-A5YI-01A-11D-A32I-09	3:47910709-47910709	A	ENSG00000047849	ENST00000426837	Transcript	missense_variant	3851	3763	1255	V/F	Gtc/Ttc	-	IMPACT=MODERATE;SYMBOL=MAP4;BIOTYPE=protein_coding;EXON=10/21;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:6862;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=benign(0.143)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000381022	Transcript	missense_variant	3986	3764	1255	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=27/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;SIFT=tolerated(0.2);PolyPhen=benign(0.138)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000447879	Transcript	missense_variant	3807	3764	1255	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=26/45;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2;SIFT=tolerated(0.2);PolyPhen=benign(0.138)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000536827	Transcript	missense_variant	3807	3764	1255	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=26/44;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=A2;SIFT=tolerated(0.22);PolyPhen=benign(0.066)
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000450198	Transcript	missense_variant	3988	3766	1256	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=27/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.791);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000537002	Transcript	missense_variant	3878	3772	1258	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=24/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000397611	Transcript	missense_variant	3896	3790	1264	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=25/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.982);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000397606	Transcript	missense_variant	3850	3799	1267	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=24/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000397617	Transcript	missense_variant	3902	3799	1267	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=24/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(0.99);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000486161	Transcript	missense_variant	3850	3799	1267	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=26/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A3HL-01A-11D-A20U-09	9:8341196-8341196	A	ENSG00000153707	ENST00000355233	Transcript	missense_variant	3905	3802	1268	R/C	Cgc/Tgc	rs138775068,COSM4821221,COSM4821222,COSM4821223,COSM4821224,COSM4821225,COSM4821226	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=26/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);AA_MAF=T:0.0002;EA_MAF=T:0;SOMATIC=0,1,1,1,1,1,1;PHENO=0,1,1,1,1,1,1
TCGA-C5-A1MK-01A-11D-A14W-08	19:2226332-2226332	T	ENSG00000104885	ENST00000398665	Transcript	missense_variant	3847	3811	1271	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=27/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=1;APPRIS=P1
TCGA-IR-A3LI-01A-11D-A20U-09	9:32631755-32631755	G	ENSG00000122728	ENST00000242310	Transcript	missense_variant	3915	3825	1275	E/D	gaG/gaC	-	IMPACT=MODERATE;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1;SIFT=tolerated(0.38);PolyPhen=benign(0.062)
TCGA-C5-A1BE-01B-11D-A13W-08	18:8380408-8380408	A	ENSG00000173482	ENST00000332175	Transcript	missense_variant	4897	3860	1287	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=27/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=P3
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000319217	Transcript	missense_variant	4111	3863	1288	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=28/47;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;SIFT=tolerated(0.09);PolyPhen=benign(0.044)
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000541718	Transcript	missense_variant	4085	3863	1288	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=28/46;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=1;APPRIS=P3;SIFT=tolerated(0.09);PolyPhen=benign(0.096)
TCGA-EK-A2RA-01A-11D-A18J-09	5:5463228-5463228	C	ENSG00000164151	ENST00000296564	Transcript	missense_variant	4116	3894	1298	K/N	aaG/aaC	-	IMPACT=MODERATE;SYMBOL=ICE1;BIOTYPE=protein_coding;EXON=13/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29154;TSL=1;APPRIS=P2
TCGA-C5-A1BE-01B-11D-A13W-08	18:8380408-8380408	A	ENSG00000173482	ENST00000580170	Transcript	missense_variant	4936	3899	1300	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=PTPRM;BIOTYPE=protein_coding;EXON=29/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9675;TSL=1;APPRIS=A2
TCGA-C5-A7UC-01A-11D-A351-09	9:13140127-13140127	G	ENSG00000107186	ENST00000546205	Transcript	missense_variant	3970	3905	1302	G/A	gGg/gCg	-	IMPACT=MODERATE;SYMBOL=MPDZ;BIOTYPE=protein_coding;EXON=29/48;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7208;TSL=5;APPRIS=A2;SIFT=tolerated(0.08);PolyPhen=benign(0.062)
TCGA-EA-A3HQ-01A-11D-A20U-09	15:40659419-40659419	A	ENSG00000137812	ENST00000526913	Transcript	missense_variant,NMD_transcript_variant	3927	3929	1310	G/E	gGa/gAa	-	IMPACT=MODERATE;SYMBOL=CASC5;BIOTYPE=nonsense_mediated_decay;EXON=16/18;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24054;TSL=1;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.858)
TCGA-C5-A3HD-01B-11D-A20U-09	19:4504605-4504605	T	ENSG00000167676	ENST00000301286	Transcript	missense_variant	3928	3928	1310	E/K	Gag/Aag	rs368973007	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=6/6;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=P2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.661)
TCGA-FU-A3EO-01A-11D-A20U-09	19:36103778-36103778	A	ENSG00000075702	ENST00000270301	Transcript	missense_variant	3935	3935	1312	R/H	cGt/cAt	rs772328050	IMPACT=MODERATE;SYMBOL=WDR62;BIOTYPE=protein_coding;EXON=30/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24502;TSL=5;APPRIS=P3;SIFT=tolerated(0.13);PolyPhen=possibly_damaging(0.778);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.283e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0001162;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000349721	Transcript	missense_variant	4093	3940	1314	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=27/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.623);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000357248	Transcript	missense_variant	4195	3940	1314	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=27/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.791);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000382194	Transcript	missense_variant	4062	3940	1314	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=27/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;APPRIS=P1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.791);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000382203	Transcript	missense_variant	4149	3940	1314	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=protein_coding;EXON=27/34;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=1;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.623);SOMATIC=1,1;PHENO=1,1
TCGA-LP-A5U2-01A-11D-A28B-09	9:2123896-2123896	A	ENSG00000080503	ENST00000634760	Transcript	missense_variant,NMD_transcript_variant	4288	3940	1314	V/M	Gtg/Atg	COSM4833855,COSM4833856	IMPACT=MODERATE;SYMBOL=SMARCA2;BIOTYPE=nonsense_mediated_decay;EXON=27/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11098;TSL=5;SIFT=deleterious(0.01);PolyPhen=possibly_damaging(0.791);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A3EO-01A-11D-A20U-09	19:36103778-36103778	A	ENSG00000075702	ENST00000401500	Transcript	missense_variant	3985	3950	1317	R/H	cGt/cAt	rs772328050	IMPACT=MODERATE;SYMBOL=WDR62;BIOTYPE=protein_coding;EXON=30/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24502;TSL=1;APPRIS=A2;SIFT=tolerated(0.13);PolyPhen=possibly_damaging(0.889);ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.283e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0.0001162;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EA-A439-01A-11D-A243-09	11:1019337-1019337	A	ENSG00000184956	ENST00000421673	Transcript	missense_variant	4019	3968	1323	S/F	tCc/tTc	rs761864091,COSM4843641,COSM4843642	IMPACT=MODERATE;SYMBOL=MUC6;BIOTYPE=protein_coding;EXON=30/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7517;TSL=5;APPRIS=P1;SIFT=tolerated(0.44);PolyPhen=unknown(0);ExAC_MAF=T:8.239e-06;ExAC_Adj_MAF=T:8.31e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:8.652e-05;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0;SOMATIC=0,1,1;PHENO=0,1,1
TCGA-LP-A4AV-01A-11D-A243-09	3:48415040-48415040	T	ENSG00000164050	ENST00000296440	Transcript	missense_variant,splice_region_variant	4071	3968	1323	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=PLXNB1;BIOTYPE=protein_coding;EXON=21/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9103;TSL=1;APPRIS=P2;SIFT=tolerated(0.29);PolyPhen=possibly_damaging(0.567)
TCGA-LP-A4AV-01A-11D-A243-09	3:48415040-48415040	T	ENSG00000164050	ENST00000358536	Transcript	missense_variant,splice_region_variant	4238	3968	1323	C/Y	tGt/tAt	-	IMPACT=MODERATE;SYMBOL=PLXNB1;BIOTYPE=protein_coding;EXON=21/38;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9103;TSL=1;APPRIS=P2;SIFT=tolerated(0.29);PolyPhen=possibly_damaging(0.567)
TCGA-C5-A3HD-01B-11D-A20U-09	19:4504605-4504605	T	ENSG00000167676	ENST00000633942	Transcript	missense_variant	4071	3973	1325	E/K	Gag/Aag	rs368973007	IMPACT=MODERATE;SYMBOL=PLIN4;BIOTYPE=protein_coding;EXON=8/8;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29393;TSL=5;APPRIS=A2;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.69)
TCGA-EK-A3GJ-01A-21D-A20U-09	9:19346894-19346894	T	ENSG00000137145	ENST00000602925	Transcript	synonymous_variant	4394	3978	1326	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=22/32;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=5;APPRIS=P1
TCGA-DG-A2KK-01A-11D-A17W-09	19:1056231-1056231	T	ENSG00000064687	ENST00000435683	Transcript	missense_variant	4027	3990	1330	Q/H	caG/caT	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=26/41;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=A2;SIFT=deleterious(0.04);PolyPhen=benign(0.007)
TCGA-JW-A69B-01A-11D-A32I-09	6:43040984-43040984	T	ENSG00000044090	ENST00000535468	Transcript	missense_variant	4076	3989	1330	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=CUL7;BIOTYPE=protein_coding;EXON=20/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:21024;TSL=2;APPRIS=A2
TCGA-FU-A40J-01A-11D-A243-09	9:745203-745203	G	ENSG00000107104	ENST00000382297	Transcript	missense_variant	4149	4027	1343	P/A	Cct/Gct	COSM3358362,COSM3358363,COSM4843909,COSM4843910	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=12/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-FU-A40J-01A-11D-A243-09	9:745203-745203	G	ENSG00000107104	ENST00000382303	Transcript	missense_variant	4679	4027	1343	P/A	Cct/Gct	COSM3358362,COSM3358363,COSM4843909,COSM4843910	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=16/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-FU-A40J-01A-11D-A243-09	9:745203-745203	G	ENSG00000107104	ENST00000619269	Transcript	missense_variant	4785	4027	1343	P/A	Cct/Gct	COSM3358362,COSM3358363,COSM4843909,COSM4843910	IMPACT=MODERATE;SYMBOL=KANK1;BIOTYPE=protein_coding;EXON=13/13;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:19309;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.979);SOMATIC=1,1,1,1;PHENO=1,1,1,1
TCGA-EA-A6QX-01A-12D-A33O-09	9:17487056-17487056	A	ENSG00000044459	ENST00000380647	Transcript	missense_variant	4193	4109	1370	R/H	cGt/cAt	-	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=25/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=probably_damaging(0.98)
TCGA-EK-A3GJ-01A-21D-A20U-09	9:19346894-19346894	T	ENSG00000137145	ENST00000434457	Transcript	synonymous_variant	4541	4125	1375	F	ttC/ttT	-	IMPACT=LOW;SYMBOL=DENND4C;BIOTYPE=protein_coding;EXON=23/33;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26079;TSL=5
TCGA-C5-A2M1-01A-11D-A18J-09	7:1479617-1479617	T	ENSG00000164880	ENST00000404767	Transcript	missense_variant	4228	4142	1381	P/Q	cCg/cAg	-	IMPACT=MODERATE;SYMBOL=INTS1;BIOTYPE=protein_coding;EXON=31/48;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24555;TSL=5;APPRIS=P1
TCGA-Q1-A6DW-01A-11D-A32I-09	3:142522838-142522838	T	ENSG00000175054	ENST00000350721	Transcript	synonymous_variant	4278	4156	1386	R	Cga/Aga	rs753896390	IMPACT=LOW;SYMBOL=ATR;BIOTYPE=protein_coding;EXON=23/47;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:882;TSL=1;APPRIS=P1;ExAC_MAF=T:8.237e-06;ExAC_Adj_MAF=T:8.247e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.499e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2RC-01A-11D-A18J-09	9:32631420-32631420	G	ENSG00000122728	ENST00000242310	Transcript	missense_variant	4250	4160	1387	S/T	aGt/aCt	-	IMPACT=MODERATE;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1;SIFT=tolerated(0.3);PolyPhen=benign(0.019)
TCGA-JW-A5VI-01A-11D-A28B-09	11:65629694-65629694	T	ENSG00000197136	ENST00000355703	Transcript	missense_variant	4714	4175	1392	T/I	aCt/aTt	rs751404735	IMPACT=MODERATE;SYMBOL=PCNX3;BIOTYPE=protein_coding;EXON=26/35;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18760;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.998);ExAC_MAF=G:1.777e-05;ExAC_Adj_MAF=G:4.004e-05;ExAC_AFR_MAF=G:0.0003876;ExAC_AMR_MAF=G:0;ExAC_EAS_MAF=G:0;ExAC_FIN_MAF=G:0;ExAC_NFE_MAF=G:0;ExAC_OTH_MAF=G:0;ExAC_SAS_MAF=G:0
TCGA-C5-A1M5-01A-11D-A13W-08	9:35560823-35560823	T	ENSG00000198853	ENST00000361226	Transcript	missense_variant	4321	4183	1395	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1;SIFT=tolerated(0.53);PolyPhen=benign(0.004)
TCGA-C5-A1M5-01A-11D-A13W-08	9:35560823-35560823	T	ENSG00000198853	ENST00000455600	Transcript	missense_variant	4752	4183	1395	P/S	Ccc/Tcc	-	IMPACT=MODERATE;SYMBOL=RUSC2;BIOTYPE=protein_coding;EXON=10/12;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23625;TSL=1;APPRIS=P1;SIFT=tolerated(0.53);PolyPhen=benign(0.004)
TCGA-C5-A7CM-01A-11D-A33O-09	17:67109414-67109414	T	ENSG00000198265	ENST00000358691	Transcript	missense_variant	4358	4191	1397	H/Q	caC/caA	rs368661732	IMPACT=MODERATE;SYMBOL=HELZ;BIOTYPE=protein_coding;EXON=29/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16878;TSL=1;AA_MAF=T:0.0012;EA_MAF=T:0;ExAC_MAF=T:3.305e-05;ExAC_Adj_MAF=T:3.312e-05;ExAC_AFR_MAF=T:0.000408;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-C5-A7CM-01A-11D-A33O-09	17:67109414-67109414	T	ENSG00000198265	ENST00000580168	Transcript	missense_variant	4361	4194	1398	H/Q	caC/caA	rs368661732	IMPACT=MODERATE;SYMBOL=HELZ;BIOTYPE=protein_coding;EXON=29/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16878;TSL=1;APPRIS=P1;AA_MAF=T:0.0012;EA_MAF=T:0;ExAC_MAF=T:3.305e-05;ExAC_Adj_MAF=T:3.312e-05;ExAC_AFR_MAF=T:0.000408;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:0;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2RC-01A-11D-A18J-09	9:17502646-17502646	C	ENSG00000044459	ENST00000380647	Transcript	missense_variant	4299	4215	1405	M/I	atG/atC	-	IMPACT=MODERATE;SYMBOL=CNTLN;BIOTYPE=protein_coding;EXON=26/26;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23432;TSL=1;APPRIS=P3
TCGA-C5-A2LX-01A-11D-A18J-09	19:2226747-2226747	T	ENSG00000104885	ENST00000398665	Transcript	missense_variant	4262	4226	1409	R/M	aGg/aTg	-	IMPACT=MODERATE;SYMBOL=DOT1L;BIOTYPE=protein_coding;EXON=27/28;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24948;TSL=1;APPRIS=P1;SIFT=deleterious_low_confidence(0);PolyPhen=possibly_damaging(0.77)
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000503423	Transcript	missense_variant	4441	4246	1416	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/37;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000503423	Transcript	missense_variant	4441	4246	1416	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/37;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000503423	Transcript	missense_variant	4441	4246	1416	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/37;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000503423	Transcript	missense_variant	4441	4246	1416	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/37;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5
TCGA-C5-A1MN-01A-11D-A14W-08	9:131476384-131476384	G	ENSG00000130723	ENST00000357304	Transcript	missense_variant	4310	4255	1419	R/G	Cgg/Ggg	-	IMPACT=MODERATE;SYMBOL=PRRC2B;BIOTYPE=protein_coding;EXON=15/31;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:28121;TSL=5;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.997)
TCGA-DS-A0VM-01A-11D-A10S-08	4:13602587-13602587	T	ENSG00000038219	ENST00000040738	Transcript	missense_variant	4449	4313	1438	S/N	aGt/aAt	-	IMPACT=MODERATE;SYMBOL=BOD1L1;BIOTYPE=protein_coding;EXON=10/26;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:31792;TSL=2;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.223)
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000537002	Transcript	missense_variant	4469	4363	1455	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=28/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000397611	Transcript	missense_variant	4487	4381	1461	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=29/30;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000397606	Transcript	missense_variant	4441	4390	1464	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=28/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000397617	Transcript	missense_variant	4493	4390	1464	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=28/29;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=5;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000486161	Transcript	missense_variant	4441	4390	1464	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=30/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-EK-A3GM-01A-11D-A20U-09	9:8319890-8319890	G	ENSG00000153707	ENST00000355233	Transcript	missense_variant	4496	4393	1465	D/H	Gat/Cat	COSM3218733,COSM3218734,COSM3218735,COSM3218736,COSM3218737,COSM4375237	IMPACT=MODERATE;SYMBOL=PTPRD;BIOTYPE=protein_coding;EXON=30/31;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9668;TSL=1;SIFT=deleterious(0);PolyPhen=probably_damaging(1);SOMATIC=1,1,1,1,1,1;PHENO=1,1,1,1,1,1
TCGA-DG-A2KK-01A-11D-A17W-09	19:1056231-1056231	T	ENSG00000064687	ENST00000263094	Transcript	missense_variant	4635	4404	1468	Q/H	caG/caT	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=32/47;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=5;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=benign(0.009)
TCGA-DG-A2KK-01A-11D-A17W-09	19:1056231-1056231	T	ENSG00000064687	ENST00000433129	Transcript	missense_variant	4520	4404	1468	Q/H	caG/caT	-	IMPACT=MODERATE;SYMBOL=ABCA7;BIOTYPE=protein_coding;EXON=31/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:37;TSL=1;APPRIS=P2;SIFT=deleterious(0.04);PolyPhen=benign(0.009)
TCGA-C5-A1MN-01A-11D-A14W-08	11:1018394-1018394	G	ENSG00000184956	ENST00000421673	Transcript	missense_variant	4458	4407	1469	Q/H	caG/caC	rs111444881	IMPACT=MODERATE;SYMBOL=MUC6;BIOTYPE=protein_coding;EXON=31/33;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7517;TSL=5;APPRIS=P1;SIFT=tolerated_low_confidence(0.14);PolyPhen=unknown(0);ExAC_MAF=T:8.240e-05,G:1.648e-05;ExAC_Adj_MAF=T:7.455e-05,G:1.657e-05;ExAC_AFR_MAF=T:0.0004063,G:0;ExAC_AMR_MAF=T:0,G:0;ExAC_EAS_MAF=T:0.000116,G:0;ExAC_FIN_MAF=T:0,G:0;ExAC_NFE_MAF=T:2.999e-05,G:2.999e-05;ExAC_OTH_MAF=T:0,G:0;ExAC_SAS_MAF=T:0.0001213,G:0
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000264366	Transcript	missense_variant	4408	4408	1470	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000264366	Transcript	missense_variant	4408	4408	1470	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000264366	Transcript	missense_variant	4408	4408	1470	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000264366	Transcript	missense_variant	4408	4408	1470	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=37/45;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=5;APPRIS=A2
TCGA-C5-A2LZ-01A-11D-A20U-09	9:37746462-37746462	A	ENSG00000070601	ENST00000377765	Transcript	missense_variant	4529	4430	1477	S/N	aGc/aAc	rs764985836	IMPACT=MODERATE;SYMBOL=FRMPD1;BIOTYPE=protein_coding;EXON=16/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29159;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A2LZ-01A-11D-A20U-09	9:37746462-37746462	A	ENSG00000070601	ENST00000539465	Transcript	missense_variant	5023	4430	1477	S/N	aGc/aAc	rs764985836	IMPACT=MODERATE;SYMBOL=FRMPD1;BIOTYPE=protein_coding;EXON=16/16;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29159;TSL=1;APPRIS=P1;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1MK-01A-11D-A14W-08	17:10448678-10448678	T	ENSG00000264424	ENST00000255381	Transcript	missense_variant	4582	4471	1491	P/T	Ccc/Acc	rs757143133	IMPACT=MODERATE;SYMBOL=MYH4;BIOTYPE=protein_coding;EXON=32/40;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:7574;TSL=1;APPRIS=P1;SIFT=deleterious(0.03);PolyPhen=possibly_damaging(0.73);ExAC_MAF=T:1.647e-05;ExAC_Adj_MAF=T:1.648e-05;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:2.998e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A3GM-01A-11D-A20U-09	6:7583547-7583547	G	ENSG00000096696	ENST00000418664	Transcript	synonymous_variant	4787	4488	1496	G	ggA/ggG	-	IMPACT=LOW;SYMBOL=DSP;BIOTYPE=protein_coding;EXON=24/24;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:3052;TSL=1;APPRIS=A2
TCGA-IR-A3LI-01A-11D-A20U-09	9:32631089-32631089	T	ENSG00000122728	ENST00000242310	Transcript	synonymous_variant	4581	4491	1497	E	gaG/gaA	rs540111709	IMPACT=LOW;SYMBOL=TAF1L;BIOTYPE=protein_coding;EXON=1/1;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:18056;APPRIS=P1;GMAF=G:0.0002;AFR_MAF=G:0.0000;AMR_MAF=G:0.0000;EAS_MAF=G:0.0010;EUR_MAF=G:0.0000;SAS_MAF=G:0.0000
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000357077	Transcript	missense_variant	4560	4507	1503	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=38/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=1;APPRIS=P3
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000357077	Transcript	missense_variant	4560	4507	1503	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=38/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=1;APPRIS=P3
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000357077	Transcript	missense_variant	4560	4507	1503	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=38/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=1;APPRIS=P3
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000357077	Transcript	missense_variant	4560	4507	1503	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=38/46;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=1;APPRIS=P3
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000504454	Transcript	missense_variant	4631	4552	1518	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=39/39;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=2;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000504454	Transcript	missense_variant	4631	4552	1518	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=39/39;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=2;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000504454	Transcript	missense_variant	4631	4552	1518	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=39/39;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=2;APPRIS=A2
TCGA-EX-A1H5-01A-31D-A13W-08	4:113353125-113353125	C	ENSG00000145362	ENST00000504454	Transcript	missense_variant	4631	4552	1518	M/L	Atg/Ctg	-	IMPACT=MODERATE;SYMBOL=ANK2;BIOTYPE=protein_coding;EXON=39/39;STRAND=1;FLAGS=cds_end_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:493;TSL=2;APPRIS=A2
TCGA-EK-A2PM-01A-11D-A18J-09	5:5463891-5463891	A	ENSG00000164151	ENST00000296564	Transcript	missense_variant	4779	4557	1519	M/I	atG/atA	rs773702419	IMPACT=MODERATE;SYMBOL=ICE1;BIOTYPE=protein_coding;EXON=13/19;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29154;TSL=1;APPRIS=P2;ExAC_MAF=T:8.278e-06;ExAC_Adj_MAF=T:8.323e-06;ExAC_AFR_MAF=T:0;ExAC_AMR_MAF=T:0;ExAC_EAS_MAF=T:0;ExAC_FIN_MAF=T:0;ExAC_NFE_MAF=T:1.506e-05;ExAC_OTH_MAF=T:0;ExAC_SAS_MAF=T:0
TCGA-EK-A2PM-01A-11D-A18J-09	18:2762231-2762231	G	ENSG00000101596	ENST00000320876	Transcript	missense_variant	4899	4561	1521	L/V	Ctc/Gtc	-	IMPACT=MODERATE;SYMBOL=SMCHD1;BIOTYPE=protein_coding;EXON=36/48;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:29090;TSL=5;APPRIS=P1;SIFT=tolerated(0.06);PolyPhen=benign(0.003)
TCGA-C5-A1MH-01A-11D-A14W-08	16:30724940-30724940	G	ENSG00000080603	ENST00000483083	Transcript	missense_variant	4615	4616	1539	S/C	tCc/tGc	rs761470627	IMPACT=MODERATE;SYMBOL=SRCAP;BIOTYPE=protein_coding;EXON=18/18;STRAND=1;FLAGS=cds_start_NF;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16974;TSL=2;SIFT=deleterious_low_confidence(0);PolyPhen=probably_damaging(0.997);ExAC_MAF=A:8.236e-06,T:8.236e-06;ExAC_Adj_MAF=A:8.244e-06,T:8.244e-06;ExAC_AFR_MAF=A:0,T:0;ExAC_AMR_MAF=A:0,T:0;ExAC_EAS_MAF=A:0,T:0;ExAC_FIN_MAF=A:0,T:0.0001512;ExAC_NFE_MAF=A:1.5e-05,T:0;ExAC_OTH_MAF=A:0,T:0;ExAC_SAS_MAF=A:0,T:0
TCGA-IR-A3LL-01A-11D-A20U-09	5:35793312-35793312	T	ENSG00000152582	ENST00000440995	Transcript	missense_variant	4693	4693	1565	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=SPEF2;BIOTYPE=protein_coding;EXON=32/37;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26293;TSL=5;APPRIS=A2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-EA-A3HT-01A-61D-A21Q-09	6:33164323-33164323	T	ENSG00000204248	ENST00000361917	Transcript	missense_variant	4921	4693	1565	D/N	Gat/Aat	-	IMPACT=MODERATE;SYMBOL=COL11A2;BIOTYPE=protein_coding;EXON=62/63;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:2187;TSL=5;APPRIS=A2;SIFT=deleterious(0.02);PolyPhen=unknown(0)
TCGA-C5-A7UH-01A-11D-A351-09	22:50278464-50278464	T	ENSG00000196576	ENST00000359337	Transcript	missense_variant	4796	4703	1568	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=30/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A7UH-01A-11D-A351-09	22:50278464-50278464	T	ENSG00000196576	ENST00000449103	Transcript	missense_variant	4844	4703	1568	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=30/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	22:50278464-50278464	T	ENSG00000196576	ENST00000359337	Transcript	missense_variant	4796	4703	1568	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=30/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-DS-A1OA-01A-11D-A16Y-08	22:50278464-50278464	T	ENSG00000196576	ENST00000449103	Transcript	missense_variant	4844	4703	1568	G/E	gGg/gAg	COSM4887281	IMPACT=MODERATE;SYMBOL=PLXNB2;BIOTYPE=protein_coding;EXON=30/37;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:9104;TSL=5;APPRIS=P1;SOMATIC=1;PHENO=1
TCGA-C5-A1BL-01A-11D-A13W-08	11:610993-610993	A	ENSG00000070047	ENST00000533464	Transcript	missense_variant	4798	4705	1569	E/K	Gag/Aag	COSM4837111,COSM4837112	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.636);SOMATIC=1,1;PHENO=1,1
TCGA-IR-A3LL-01A-11D-A20U-09	5:35793312-35793312	T	ENSG00000152582	ENST00000356031	Transcript	missense_variant	4862	4708	1570	R/C	Cgc/Tgc	-	IMPACT=MODERATE;SYMBOL=SPEF2;BIOTYPE=protein_coding;EXON=32/37;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:26293;TSL=2;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(1)
TCGA-C5-A1BL-01A-11D-A13W-08	11:610993-610993	A	ENSG00000070047	ENST00000413872	Transcript	missense_variant	4804	4711	1571	E/K	Gag/Aag	COSM4837111,COSM4837112	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.801);SOMATIC=1,1;PHENO=1,1
TCGA-FU-A770-01A-11D-A33O-09	9:35403968-35403968	A	ENSG00000198722	ENST00000378495	Transcript	missense_variant	4933	4711	1571	D/N	Gac/Aac	-	IMPACT=MODERATE;SYMBOL=UNC13B;BIOTYPE=protein_coding;EXON=39/39;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:12566;TSL=1;APPRIS=P2;SIFT=deleterious(0);PolyPhen=probably_damaging(0.999)
TCGA-C5-A1BL-01A-11D-A13W-08	11:610993-610993	A	ENSG00000070047	ENST00000416188	Transcript	missense_variant	4807	4714	1572	E/K	Gag/Aag	COSM4837111,COSM4837112	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=P3;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.801);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A1BL-01A-11D-A13W-08	11:610993-610993	A	ENSG00000070047	ENST00000264555	Transcript	missense_variant	4845	4717	1573	E/K	Gag/Aag	COSM4837111,COSM4837112	IMPACT=MODERATE;SYMBOL=PHRF1;BIOTYPE=protein_coding;EXON=17/18;STRAND=1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:24351;TSL=1;APPRIS=A2;SIFT=deleterious(0);PolyPhen=possibly_damaging(0.636);SOMATIC=1,1;PHENO=1,1
TCGA-C5-A7CK-01A-11D-A32I-09	9:5921188-5921188	A	ENSG00000183354	ENST00000381461	Transcript	missense_variant	4718	4718	1573	T/I	aCc/aTc	-	IMPACT=MODERATE;SYMBOL=KIAA2026;BIOTYPE=protein_coding;EXON=7/7;STRAND=-1;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:23378;TSL=5;SIFT=tolerated(0.83);PolyPhen=benign(0.085)