Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 55948723 55948723 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr17:55948723C>A c.792G>T c.(790-792)ttG>ttT p.L264F BLCA 17 55950043 55950043 + Silent SNP G G A TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr17:55950043G>A c.765C>T c.(763-765)ttC>ttT p.F255F BLCA 17 55950147 55950147 + Nonsense_Mutation SNP C C A TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chr17:55950147C>A c.661G>T c.(661-663)Gga>Tga p.G221* BLCA 17 55962592 55962592 + Nonsense_Mutation SNP C C A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr17:55962592C>A c.334G>T c.(334-336)Gag>Tag p.E112* BLCA 17 55962827 55962827 + Silent SNP G G C TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr17:55962827G>C c.99C>G c.(97-99)ctC>ctG p.L33L BRCA 17 55943866 55943866 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr17:55943866A>C c.1133T>G c.(1132-1134)gTg>gGg p.V378G BRCA 17 55962645 55962645 + Missense_Mutation SNP C C A TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 g.chr17:55962645C>A c.281G>T c.(280-282)aGc>aTc p.S94I COAD 17 55944765 55944765 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr17:55944765G>A c.1046C>T c.(1045-1047)gCc>gTc p.A349V COAD 17 55945584 55945587 + Frame_Shift_Del DEL CAAA CAAA - TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr17:55945584_55945587delCAAA c.958_961delTTTG c.(958-963)tttgaafs p.FE320fs COAD 17 55948675 55948675 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:55948675G>A c.840C>T c.(838-840)aaC>aaT p.N280N COAD 17 55950973 55950973 + Silent SNP G G T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:55950973G>T c.570C>A c.(568-570)ccC>ccA p.P190P COAD 17 55962680 55962680 + Missense_Mutation SNP G G T TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr17:55962680G>T c.246C>A c.(244-246)gaC>gaA p.D82E COADREAD 17 55944765 55944765 + Missense_Mutation SNP G G A TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr17:55944765G>A c.1046C>T c.(1045-1047)gCc>gTc p.A349V COADREAD 17 55945533 55945533 + Nonsense_Mutation SNP T T A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr17:55945533T>A c.1012A>T c.(1012-1014)Aaa>Taa p.K338* COADREAD 17 55945584 55945587 + Frame_Shift_Del DEL CAAA CAAA - TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr17:55945584_55945587delCAAA c.958_961delTTTG c.(958-963)tttgaafs p.FE320fs COADREAD 17 55948675 55948675 + Silent SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:55948675G>A c.840C>T c.(838-840)aaC>aaT p.N280N COADREAD 17 55950157 55950157 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:55950157C>T c.651G>A c.(649-651)ggG>ggA p.G217G COADREAD 17 55950973 55950973 + Silent SNP G G T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:55950973G>T c.570C>A c.(568-570)ccC>ccA p.P190P COADREAD 17 55962680 55962680 + Missense_Mutation SNP G G T TCGA-AZ-4681-01A-01D-1408-10 TCGA-AZ-4681-10A-01D-1408-10 g.chr17:55962680G>T c.246C>A c.(244-246)gaC>gaA p.D82E ESCA 17 55950050 55950050 + Missense_Mutation SNP C C T TCGA-LN-A4A3-01A-11D-A27G-09 TCGA-LN-A4A3-10A-01D-A27G-09 g.chr17:55950050C>T c.758G>A c.(757-759)cGc>cAc p.R253H GBMLGG 17 55946527 55946527 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr17:55946527G>A c.896C>T c.(895-897)tCt>tTt p.S299F HNSC 17 55946537 55946537 + Missense_Mutation SNP G G A TCGA-CN-A63V-01A-11D-A28R-08 TCGA-CN-A63V-10A-01D-A28U-08 g.chr17:55946537G>A c.886C>T c.(886-888)Ccc>Tcc p.P296S HNSC 17 55950170 55950170 + Missense_Mutation SNP G G A TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr17:55950170G>A c.638C>T c.(637-639)cCt>cTt p.P213L HNSC 17 55957076 55957076 + Silent SNP A A G TCGA-CR-7393-01A-11D-2012-08 TCGA-CR-7393-10A-01D-2013-08 g.chr17:55957076A>G c.360T>C c.(358-360)ccT>ccC p.P120P KIPAN 17 55948719 55948719 + Missense_Mutation SNP A A G TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr17:55948719A>G c.796T>C c.(796-798)Tac>Cac p.Y266H KIRC 17 55948719 55948719 + Missense_Mutation SNP A A G TCGA-CJ-5671-01A-11D-1534-10 TCGA-CJ-5671-11A-01D-1534-10 g.chr17:55948719A>G c.796T>C c.(796-798)Tac>Cac p.Y266H LAML 17 55962593 55962593 + Silent SNP C C T TCGA-AB-2898-03A-01W-0733-08 TCGA-AB-2898-11A-01W-0732-08 g.chr17:55962593C>T c.333G>A c.(331-333)ccG>ccA p.P111P LAML 17 55962641 55962641 + Silent SNP G G A TCGA-AB-2946-03A-01W-0755-09 TCGA-AB-2946-11A-01W-0755-09 g.chr17:55962641G>A c.285C>T c.(283-285)agC>agT p.S95S LGG 17 55946527 55946527 + Missense_Mutation SNP G G A TCGA-FG-6688-01A-11D-1893-08 TCGA-FG-6688-10A-01D-1893-08 g.chr17:55946527G>A c.896C>T c.(895-897)tCt>tTt p.S299F LIHC 17 55945598 55945598 + Missense_Mutation SNP C C G TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr17:55945598C>G c.947G>C c.(946-948)cGg>cCg p.R316P LUAD 17 55945511 55945511 + Splice_Site SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:55945511G>T c.1034C>A c.(1033-1035)tCg>tAg p.S345* LUAD 17 55950055 55950055 + Silent SNP C C G TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr17:55950055C>G c.753G>C c.(751-753)cgG>cgC p.R251R LUAD 17 55950963 55950963 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr17:55950963C>A c.580G>T c.(580-582)Gac>Tac p.D194Y LUAD 17 55950998 55950998 + Missense_Mutation SNP G G A TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr17:55950998G>A c.545C>T c.(544-546)cCg>cTg p.P182L LUAD 17 55951056 55951056 + Missense_Mutation SNP C C A TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr17:55951056C>A c.487G>T c.(487-489)Gcc>Tcc p.A163S LUAD 17 55951069 55951069 + Silent SNP C C T TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr17:55951069C>T c.474G>A c.(472-474)gcG>gcA p.A158A LUAD 17 55956981 55956981 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr17:55956981G>A c.455C>T c.(454-456)cCg>cTg p.P152L LUAD 17 55962651 55962651 + Missense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:55962651C>A c.275G>T c.(274-276)gGt>gTt p.G92V LUAD 17 55962667 55962667 + Missense_Mutation SNP T T C TCGA-MP-A4TD-01A-32D-A25L-08 TCGA-MP-A4TD-10A-01D-A25L-08 g.chr17:55962667T>C c.259A>G c.(259-261)Atg>Gtg p.M87V LUAD 17 55962795 55962795 + Missense_Mutation SNP C C A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr17:55962795C>A c.131G>T c.(130-132)cGc>cTc p.R44L LUAD 17 55962798 55962798 + Missense_Mutation SNP C C A TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr17:55962798C>A c.128G>T c.(127-129)cGc>cTc p.R43L LUSC 17 55948728 55948728 + Silent SNP G G T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr17:55948728G>T c.787C>A c.(787-789)Cga>Aga p.R263R LUSC 17 55951058 55951058 + Missense_Mutation SNP C C G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 g.chr17:55951058C>G c.485G>C c.(484-486)gGa>gCa p.G162A READ 17 55945533 55945533 + Nonsense_Mutation SNP T T A TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr17:55945533T>A c.1012A>T c.(1012-1014)Aaa>Taa p.K338* READ 17 55950157 55950157 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr17:55950157C>T c.651G>A c.(649-651)ggG>ggA p.G217G SKCM 17 55943871 55943871 + Silent SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr17:55943871G>A c.1128C>T c.(1126-1128)ccC>ccT p.P376P SKCM 17 55950091 55950091 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr17:55950091G>A c.717C>T c.(715-717)ttC>ttT p.F239F SKCM 17 55950091 55950091 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:55950091G>A c.717C>T c.(715-717)ttC>ttT p.F239F SKCM 17 55956975 55956975 + Missense_Mutation SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:55956975G>A c.461C>T c.(460-462)cCc>cTc p.P154L SKCM 17 55956990 55956990 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:55956990G>A c.446C>T c.(445-447)cCc>cTc p.P149L SKCM 17 55962736 55962736 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:55962736C>T c.190G>A c.(190-192)Gac>Aac p.D64N SKCM 17 55962751 55962751 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:55962751G>A c.175C>T c.(175-177)Ccc>Tcc p.P59S SKCM 17 55962752 55962752 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:55962752G>A c.174C>T c.(172-174)ttC>ttT p.F58F SKCM 17 55962836 55962836 + Silent SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr17:55962836G>A c.90C>T c.(88-90)ccC>ccT p.P30P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 55945584 55945584 single base substitution C T downstream_gene_variant BLCA-CN 17 55945584 55945584 single base substitution C T exon_variant BLCA-CN 17 55945584 55945584 single base substitution C T intron_variant BLCA-CN 17 55945584 55945584 single base substitution C T missense_variant E184K 550G>A BLCA-CN 17 55945584 55945584 single base substitution C T missense_variant E321K 961G>A BLCA-CN 17 55945584 55945584 single base substitution C T upstream_gene_variant BLCA-US 17 55950043 55950043 single base substitution G A downstream_gene_variant BLCA-US 17 55950043 55950043 single base substitution G A synonymous_variant F118F 354C>T BLCA-US 17 55950043 55950043 single base substitution G A synonymous_variant F255F 765C>T BLCA-US 17 55950043 55950043 single base substitution G A upstream_gene_variant BOCA-FR 17 56002407 56002407 single base substitution T C intron_variant BRCA-EU 17 55934051 55934051 single base substitution A G downstream_gene_variant BRCA-EU 17 55934713 55934713 single base substitution A G downstream_gene_variant BRCA-EU 17 55935390 55935390 single base substitution C T downstream_gene_variant BRCA-EU 17 55935397 55935397 single base substitution C A downstream_gene_variant BRCA-EU 17 55935953 55935953 single base substitution G A downstream_gene_variant BRCA-EU 17 55936725 55936725 single base substitution G A downstream_gene_variant BRCA-EU 17 55937501 55937501 single base substitution C G downstream_gene_variant BRCA-EU 17 55938193 55938193 single base substitution C G downstream_gene_variant BRCA-EU 17 55938870 55938870 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 55938870 55938870 single base substitution G C downstream_gene_variant BRCA-EU 17 55939442 55939442 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 55939442 55939442 single base substitution G A downstream_gene_variant BRCA-EU 17 55939442 55939442 single base substitution G A exon_variant BRCA-EU 17 55940337 55940337 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 55940337 55940337 single base substitution A T downstream_gene_variant BRCA-EU 17 55940337 55940337 single base substitution A T exon_variant BRCA-EU 17 55940552 55940552 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 17 55940552 55940552 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 55940552 55940552 insertion of <=200bp - T exon_variant BRCA-EU 17 55941998 55941998 single base substitution G C intron_variant BRCA-EU 17 55942311 55942311 single base substitution G A intron_variant BRCA-EU 17 55944004 55944004 insertion of <=200bp - C exon_variant BRCA-EU 17 55944004 55944004 insertion of <=200bp - C intron_variant BRCA-EU 17 55944065 55944065 single base substitution G C exon_variant BRCA-EU 17 55944065 55944065 single base substitution G C intron_variant BRCA-EU 17 55945652 55945652 single base substitution C T downstream_gene_variant BRCA-EU 17 55945652 55945652 single base substitution C T exon_variant BRCA-EU 17 55945652 55945652 single base substitution C T intron_variant BRCA-EU 17 55945652 55945652 single base substitution C T upstream_gene_variant BRCA-EU 17 55947630 55947630 single base substitution T C downstream_gene_variant BRCA-EU 17 55947630 55947630 single base substitution T C intron_variant BRCA-EU 17 55947630 55947630 single base substitution T C upstream_gene_variant BRCA-EU 17 55947750 55947750 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 55947750 55947750 deletion of <=200bp C - intron_variant BRCA-EU 17 55947750 55947750 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 55949873 55949877 deletion of <=200bp ATGGG - downstream_gene_variant BRCA-EU 17 55949873 55949877 deletion of <=200bp ATGGG - intron_variant BRCA-EU 17 55949873 55949877 deletion of <=200bp ATGGG - upstream_gene_variant BRCA-EU 17 55950037 55950037 single base substitution G C downstream_gene_variant BRCA-EU 17 55950037 55950037 single base substitution G C synonymous_variant L120L 360C>G BRCA-EU 17 55950037 55950037 single base substitution G C synonymous_variant L257L 771C>G BRCA-EU 17 55950037 55950037 single base substitution G C upstream_gene_variant BRCA-EU 17 55950762 55950762 single base substitution G C intron_variant BRCA-EU 17 55950762 55950762 single base substitution G C upstream_gene_variant BRCA-EU 17 55950825 55950825 single base substitution G C intron_variant BRCA-EU 17 55950825 55950825 single base substitution G C upstream_gene_variant BRCA-EU 17 55950890 55950890 single base substitution G A intron_variant BRCA-EU 17 55950890 55950890 single base substitution G A upstream_gene_variant BRCA-EU 17 55952036 55952036 single base substitution C T intron_variant BRCA-EU 17 55952036 55952036 single base substitution C T upstream_gene_variant BRCA-EU 17 55952116 55952116 single base substitution C T intron_variant BRCA-EU 17 55952116 55952116 single base substitution C T upstream_gene_variant BRCA-EU 17 55953455 55953455 single base substitution C T intron_variant BRCA-EU 17 55953455 55953455 single base substitution C T upstream_gene_variant BRCA-EU 17 55956269 55956269 single base substitution C T intron_variant BRCA-EU 17 55956705 55956705 single base substitution G C intron_variant BRCA-EU 17 55957972 55957972 single base substitution G T intron_variant BRCA-EU 17 55958321 55958321 single base substitution G C intron_variant BRCA-EU 17 55961092 55961092 insertion of <=200bp - A intron_variant BRCA-EU 17 55961138 55961138 single base substitution G C intron_variant BRCA-EU 17 55963165 55963165 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 55963165 55963165 single base substitution G A intron_variant BRCA-EU 17 55963290 55963290 single base substitution T G intron_variant BRCA-EU 17 55963290 55963290 single base substitution T G upstream_gene_variant BRCA-EU 17 55963563 55963563 single base substitution C T intron_variant BRCA-EU 17 55963563 55963563 single base substitution C T upstream_gene_variant BRCA-EU 17 55964246 55964246 single base substitution C A intron_variant BRCA-EU 17 55964246 55964246 single base substitution C A upstream_gene_variant BRCA-EU 17 55965523 55965523 single base substitution C G intron_variant BRCA-EU 17 55965523 55965523 single base substitution C G upstream_gene_variant BRCA-EU 17 55967411 55967411 single base substitution C T intron_variant BRCA-EU 17 55967411 55967411 single base substitution C T upstream_gene_variant BRCA-EU 17 55967976 55967976 single base substitution C A intron_variant BRCA-EU 17 55967976 55967976 single base substitution C A upstream_gene_variant BRCA-EU 17 55968084 55968084 single base substitution C A intron_variant BRCA-EU 17 55968084 55968084 single base substitution C A upstream_gene_variant BRCA-EU 17 55968972 55968972 single base substitution C T intron_variant BRCA-EU 17 55969624 55969624 single base substitution C T intron_variant BRCA-EU 17 55969625 55969625 single base substitution G A intron_variant BRCA-EU 17 55969823 55969823 single base substitution A C intron_variant BRCA-EU 17 55970106 55970106 single base substitution C T intron_variant BRCA-EU 17 55970106 55970106 single base substitution C T upstream_gene_variant BRCA-EU 17 55971347 55971347 single base substitution C T intron_variant BRCA-EU 17 55971347 55971347 single base substitution C T upstream_gene_variant BRCA-EU 17 55972195 55972195 single base substitution A T intron_variant BRCA-EU 17 55972195 55972195 single base substitution A T upstream_gene_variant BRCA-EU 17 55972255 55972255 single base substitution A G intron_variant BRCA-EU 17 55972255 55972255 single base substitution A G upstream_gene_variant BRCA-EU 17 55977089 55977089 single base substitution G C intron_variant BRCA-EU 17 55977278 55977287 deletion of <=200bp GGCCAGATGA - intron_variant BRCA-EU 17 55978739 55978739 single base substitution C T intron_variant BRCA-EU 17 55978924 55978924 single base substitution C T intron_variant BRCA-EU 17 55979178 55979178 single base substitution G A intron_variant BRCA-EU 17 55979257 55979257 single base substitution G A intron_variant BRCA-EU 17 55979681 55979681 single base substitution C T intron_variant BRCA-EU 17 55979840 55979840 single base substitution A C intron_variant BRCA-EU 17 55980991 55980991 single base substitution A G intron_variant BRCA-EU 17 55980991 55980991 single base substitution A G upstream_gene_variant BRCA-EU 17 55982417 55982417 single base substitution G A intron_variant BRCA-EU 17 55982417 55982417 single base substitution G A upstream_gene_variant BRCA-EU 17 55985099 55985099 single base substitution C T intron_variant BRCA-EU 17 55985099 55985099 single base substitution C T upstream_gene_variant BRCA-EU 17 55985951 55985951 single base substitution T A intron_variant BRCA-EU 17 55986932 55986932 single base substitution T A intron_variant BRCA-EU 17 55987921 55987921 single base substitution G A intron_variant BRCA-EU 17 55988607 55988607 single base substitution G T intron_variant BRCA-EU 17 55989765 55989765 single base substitution C T intron_variant BRCA-EU 17 55991333 55991333 single base substitution G A intron_variant BRCA-EU 17 55992142 55992142 single base substitution C A intron_variant BRCA-EU 17 55995292 55995292 single base substitution T C intron_variant BRCA-EU 17 55996496 55996496 single base substitution G A intron_variant BRCA-EU 17 55996528 55996528 single base substitution T G intron_variant BRCA-EU 17 55997119 55997119 single base substitution G C intron_variant BRCA-EU 17 55998870 55998870 single base substitution C T intron_variant BRCA-EU 17 55999007 55999007 single base substitution G T intron_variant BRCA-EU 17 55999185 55999185 single base substitution C G intron_variant BRCA-EU 17 55999467 55999467 single base substitution C A intron_variant BRCA-EU 17 56002828 56002828 single base substitution C T intron_variant BRCA-EU 17 56003590 56003590 single base substitution G A intron_variant BRCA-EU 17 56004593 56004593 single base substitution G C intron_variant BRCA-EU 17 56005283 56005283 single base substitution C A intron_variant BRCA-EU 17 56006071 56006071 single base substitution G C intron_variant BRCA-EU 17 56006089 56006089 single base substitution G A intron_variant BRCA-EU 17 56007156 56007157 deletion of <=200bp TC - intron_variant BRCA-EU 17 56007410 56007410 single base substitution C A intron_variant BRCA-EU 17 56008164 56008164 single base substitution C T intron_variant BRCA-EU 17 56008266 56008266 single base substitution C G intron_variant BRCA-EU 17 56008297 56008297 single base substitution C T intron_variant BRCA-EU 17 56008963 56008963 single base substitution C G intron_variant BRCA-EU 17 56009046 56009046 single base substitution C A intron_variant BRCA-EU 17 56009087 56009097 deletion of <=200bp TCAGAGGGACT - intron_variant BRCA-EU 17 56009798 56009798 single base substitution T A intron_variant BRCA-EU 17 56010407 56010407 single base substitution C G intron_variant BRCA-EU 17 56010735 56010735 single base substitution C T intron_variant BRCA-EU 17 56010741 56010741 single base substitution C A intron_variant BRCA-EU 17 56011348 56011348 single base substitution G C intron_variant BRCA-EU 17 56012591 56012591 deletion of <=200bp C - intron_variant BRCA-EU 17 56012963 56012963 single base substitution C A intron_variant BRCA-EU 17 56014501 56014501 single base substitution C G intron_variant BRCA-EU 17 56014958 56014958 single base substitution G A intron_variant BRCA-EU 17 56015499 56015499 single base substitution A T intron_variant BRCA-EU 17 56015661 56015661 single base substitution T G intron_variant BRCA-EU 17 56017377 56017377 single base substitution G T intron_variant BRCA-EU 17 56018155 56018155 single base substitution A T intron_variant BRCA-EU 17 56018320 56018320 single base substitution G C intron_variant BRCA-EU 17 56020460 56020460 single base substitution C A intron_variant BRCA-EU 17 56021159 56021159 single base substitution C T intron_variant BRCA-EU 17 56022194 56022194 single base substitution G C intron_variant BRCA-EU 17 56022524 56022524 single base substitution G C intron_variant BRCA-EU 17 56022853 56022853 single base substitution A C intron_variant BRCA-EU 17 56022926 56022926 deletion of <=200bp T - intron_variant BRCA-EU 17 56022930 56022930 single base substitution A C intron_variant BRCA-EU 17 56023530 56023530 single base substitution T C intron_variant BRCA-EU 17 56024855 56024855 single base substitution G T intron_variant BRCA-EU 17 56025494 56025494 single base substitution A T intron_variant BRCA-EU 17 56025495 56025495 single base substitution T G intron_variant BRCA-EU 17 56025838 56025838 insertion of <=200bp - C intron_variant BRCA-EU 17 56028838 56028838 single base substitution G C intron_variant BRCA-EU 17 56029656 56029656 single base substitution C T intron_variant BRCA-EU 17 56030547 56030547 deletion of <=200bp G - intron_variant BRCA-EU 17 56031995 56031995 single base substitution G A intron_variant BRCA-EU 17 56032346 56032346 single base substitution G C intron_variant BRCA-EU 17 56032507 56032507 single base substitution C G intron_variant BRCA-EU 17 56033026 56033026 single base substitution A C upstream_gene_variant BRCA-EU 17 56033206 56033206 single base substitution G A upstream_gene_variant BRCA-EU 17 56033631 56033631 single base substitution A G upstream_gene_variant BRCA-EU 17 56034602 56034602 single base substitution A T upstream_gene_variant BRCA-EU 17 56034819 56034819 single base substitution C A upstream_gene_variant BRCA-EU 17 56036275 56036275 single base substitution G A upstream_gene_variant BRCA-EU 17 56036417 56036417 single base substitution C T upstream_gene_variant BRCA-EU 17 56036589 56036589 single base substitution T C upstream_gene_variant BRCA-FR 17 55934713 55934713 single base substitution A G downstream_gene_variant BRCA-FR 17 55935390 55935390 single base substitution C T downstream_gene_variant BRCA-FR 17 55935397 55935397 single base substitution C A downstream_gene_variant BRCA-FR 17 55935953 55935953 single base substitution G A downstream_gene_variant BRCA-FR 17 55937501 55937501 single base substitution C G downstream_gene_variant BRCA-FR 17 55938193 55938193 single base substitution C G downstream_gene_variant BRCA-FR 17 55944065 55944065 single base substitution G C exon_variant BRCA-FR 17 55944065 55944065 single base substitution G C intron_variant BRCA-FR 17 55953455 55953455 single base substitution C T intron_variant BRCA-FR 17 55953455 55953455 single base substitution C T upstream_gene_variant BRCA-FR 17 55972034 55972034 single base substitution A C intron_variant BRCA-FR 17 55972034 55972034 single base substitution A C upstream_gene_variant BRCA-FR 17 55996528 55996528 single base substitution T G intron_variant BRCA-FR 17 55996609 55996609 single base substitution C T intron_variant BRCA-FR 17 56006071 56006071 single base substitution G C intron_variant BRCA-FR 17 56014958 56014958 single base substitution G A intron_variant BRCA-FR 17 56022194 56022194 single base substitution G C intron_variant BRCA-FR 17 56025500 56025500 single base substitution C A intron_variant BRCA-UK 17 55944231 55944231 single base substitution G A exon_variant BRCA-UK 17 55944231 55944231 single base substitution G A intron_variant BRCA-UK 17 55944231 55944231 single base substitution G A upstream_gene_variant BRCA-UK 17 55984505 55984505 single base substitution G C intron_variant BRCA-UK 17 55984505 55984505 single base substitution G C upstream_gene_variant BRCA-UK 17 55985740 55985740 single base substitution G C intron_variant BRCA-UK 17 55985740 55985740 single base substitution G C upstream_gene_variant BRCA-UK 17 55986932 55986932 single base substitution T A intron_variant BRCA-UK 17 55995885 55995885 single base substitution C G intron_variant BRCA-UK 17 55996551 55996551 single base substitution C G intron_variant BRCA-UK 17 56005283 56005283 single base substitution C A intron_variant BRCA-UK 17 56012996 56012996 single base substitution G C intron_variant BRCA-UK 17 56018155 56018155 single base substitution A T intron_variant BRCA-UK 17 56022972 56022972 single base substitution C T intron_variant BRCA-UK 17 56023346 56023346 single base substitution C G intron_variant BRCA-UK 17 56023722 56023722 single base substitution C G intron_variant BRCA-US 17 55943866 55943866 single base substitution A C exon_variant BRCA-US 17 55943866 55943866 single base substitution A C missense_variant V241G 722T>G BRCA-US 17 55943866 55943866 single base substitution A C missense_variant V33G 98T>G BRCA-US 17 55943866 55943866 single base substitution A C missense_variant V378G 1133T>G BRCA-US 17 55943866 55943866 single base substitution A C missense_variant V44G 131T>G BRCA-US 17 55962645 55962645 single base substitution C A intron_variant BRCA-US 17 55962645 55962645 single base substitution C A missense_variant S44I 131G>T BRCA-US 17 55962645 55962645 single base substitution C A missense_variant S94I 281G>T BTCA-JP 17 55948686 55948686 single base substitution C T downstream_gene_variant BTCA-JP 17 55948686 55948686 single base substitution C T exon_variant BTCA-JP 17 55948686 55948686 single base substitution C T missense_variant A140T 418G>A BTCA-JP 17 55948686 55948686 single base substitution C T missense_variant A18T 52G>A BTCA-JP 17 55948686 55948686 single base substitution C T missense_variant A277T 829G>A BTCA-JP 17 55948686 55948686 single base substitution C T upstream_gene_variant BTCA-JP 17 55950251 55950251 single base substitution C T intron_variant BTCA-JP 17 55950251 55950251 single base substitution C T upstream_gene_variant CLLE-ES 17 55934255 55934255 single base substitution C T downstream_gene_variant CLLE-ES 17 55963201 55963201 single base substitution C T 5_prime_UTR_variant CLLE-ES 17 55963201 55963201 single base substitution C T intron_variant CLLE-ES 17 55963201 55963201 single base substitution C T upstream_gene_variant CLLE-ES 17 55964050 55964050 single base substitution A T intron_variant CLLE-ES 17 55964050 55964050 single base substitution A T upstream_gene_variant CLLE-ES 17 55969308 55969308 single base substitution A G intron_variant CLLE-ES 17 55971465 55971465 single base substitution A C intron_variant CLLE-ES 17 55971465 55971465 single base substitution A C upstream_gene_variant CLLE-ES 17 55983447 55983447 single base substitution T C intron_variant CLLE-ES 17 55983447 55983447 single base substitution T C upstream_gene_variant CLLE-ES 17 56012773 56012773 single base substitution C A intron_variant CLLE-ES 17 56013366 56013366 single base substitution C A intron_variant CLLE-ES 17 56021553 56021553 deletion of <=200bp A - intron_variant CLLE-ES 17 56023607 56023607 single base substitution A G intron_variant CLLE-ES 17 56026532 56026532 single base substitution G A intron_variant COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - downstream_gene_variant COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - exon_variant COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - frameshift_variant FE183 COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - frameshift_variant FE320 COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - intron_variant COAD-US 17 55945584 55945587 deletion of <=200bp CAAA - upstream_gene_variant COAD-US 17 55948675 55948675 single base substitution G A downstream_gene_variant COAD-US 17 55948675 55948675 single base substitution G A exon_variant COAD-US 17 55948675 55948675 single base substitution G A synonymous_variant N143N 429C>T COAD-US 17 55948675 55948675 single base substitution G A synonymous_variant N21N 63C>T COAD-US 17 55948675 55948675 single base substitution G A synonymous_variant N280N 840C>T COAD-US 17 55948675 55948675 single base substitution G A upstream_gene_variant COCA-CN 17 55950998 55950998 single base substitution G A missense_variant P132L 395C>T COCA-CN 17 55950998 55950998 single base substitution G A missense_variant P182L 545C>T COCA-CN 17 55950998 55950998 single base substitution G A missense_variant P45L 134C>T COCA-CN 17 55950998 55950998 single base substitution G A upstream_gene_variant COCA-CN 17 55957232 55957232 single base substitution G A intron_variant EOPC-DE 17 55937458 55937458 single base substitution G A downstream_gene_variant EOPC-DE 17 55959663 55959663 single base substitution T G intron_variant EOPC-DE 17 55978160 55978160 single base substitution C A intron_variant EOPC-DE 17 55998308 55998308 single base substitution A G intron_variant EOPC-DE 17 56016161 56016161 single base substitution T C intron_variant EOPC-DE 17 56022693 56022693 single base substitution C T intron_variant ESAD-UK 17 55945482 55945482 single base substitution C T downstream_gene_variant ESAD-UK 17 55945482 55945482 single base substitution C T intron_variant ESAD-UK 17 55945482 55945482 single base substitution C T upstream_gene_variant ESAD-UK 17 55947989 55947989 single base substitution G A downstream_gene_variant ESAD-UK 17 55947989 55947989 single base substitution G A intron_variant ESAD-UK 17 55947989 55947989 single base substitution G A upstream_gene_variant ESAD-UK 17 55949300 55949305 deletion of <=200bp AAACGG - downstream_gene_variant ESAD-UK 17 55949300 55949305 deletion of <=200bp AAACGG - intron_variant ESAD-UK 17 55949300 55949305 deletion of <=200bp AAACGG - upstream_gene_variant ESAD-UK 17 55951967 55951967 single base substitution G A intron_variant ESAD-UK 17 55951967 55951967 single base substitution G A upstream_gene_variant ESAD-UK 17 55958038 55958038 single base substitution A C intron_variant ESAD-UK 17 55963752 55963752 single base substitution C T intron_variant ESAD-UK 17 55963752 55963752 single base substitution C T upstream_gene_variant ESAD-UK 17 55968407 55968407 single base substitution G A intron_variant ESAD-UK 17 55976477 55976477 single base substitution G A intron_variant ESAD-UK 17 55978477 55978477 single base substitution A G intron_variant ESAD-UK 17 55979822 55979822 single base substitution C T intron_variant ESAD-UK 17 55982252 55982252 single base substitution C T intron_variant ESAD-UK 17 55982252 55982252 single base substitution C T upstream_gene_variant ESAD-UK 17 55982584 55982584 single base substitution T C intron_variant ESAD-UK 17 55982584 55982584 single base substitution T C upstream_gene_variant ESAD-UK 17 55984048 55984048 single base substitution C T intron_variant ESAD-UK 17 55984048 55984048 single base substitution C T upstream_gene_variant ESAD-UK 17 55985155 55985155 single base substitution C T intron_variant ESAD-UK 17 55985155 55985155 single base substitution C T upstream_gene_variant ESAD-UK 17 55988352 55988352 single base substitution T A intron_variant ESAD-UK 17 55988357 55988357 single base substitution T C intron_variant ESAD-UK 17 55988358 55988358 single base substitution C T intron_variant ESAD-UK 17 55990540 55990540 single base substitution T A intron_variant ESAD-UK 17 55992887 55992887 single base substitution G T intron_variant ESAD-UK 17 55993471 55993471 single base substitution C T intron_variant ESAD-UK 17 55999293 55999293 single base substitution G A intron_variant ESAD-UK 17 55999662 55999662 single base substitution C G intron_variant ESAD-UK 17 55999871 55999871 single base substitution G A intron_variant ESAD-UK 17 56001559 56001559 single base substitution C A intron_variant ESAD-UK 17 56002616 56002616 single base substitution G A intron_variant ESAD-UK 17 56003397 56003397 single base substitution G A intron_variant ESAD-UK 17 56004119 56004119 single base substitution A C intron_variant ESAD-UK 17 56006698 56006698 single base substitution G C intron_variant ESAD-UK 17 56013439 56013439 single base substitution G T intron_variant ESAD-UK 17 56022166 56022166 single base substitution C G intron_variant ESAD-UK 17 56024358 56024358 single base substitution G C intron_variant ESAD-UK 17 56024840 56024840 single base substitution G C intron_variant ESAD-UK 17 56026603 56026603 insertion of <=200bp - TT intron_variant ESAD-UK 17 56027068 56027068 single base substitution G A intron_variant ESAD-UK 17 56027648 56027648 single base substitution A C intron_variant ESAD-UK 17 56029079 56029079 single base substitution C T intron_variant ESAD-UK 17 56029818 56029818 single base substitution C T intron_variant ESAD-UK 17 56029835 56029835 single base substitution C T intron_variant ESAD-UK 17 56031394 56031394 single base substitution G A intron_variant ESAD-UK 17 56032037 56032037 single base substitution C T intron_variant ESAD-UK 17 56034431 56034431 single base substitution G A upstream_gene_variant ESAD-UK 17 56035035 56035035 single base substitution A C upstream_gene_variant ESAD-UK 17 56035622 56035622 single base substitution C T upstream_gene_variant ESCA-CN 17 55940567 55940567 single base substitution C T 3_prime_UTR_variant ESCA-CN 17 55940567 55940567 single base substitution C T downstream_gene_variant ESCA-CN 17 55940567 55940567 single base substitution C T exon_variant ESCA-CN 17 55950109 55950109 single base substitution G A downstream_gene_variant ESCA-CN 17 55950109 55950109 single base substitution G A synonymous_variant D233D 699C>T ESCA-CN 17 55950109 55950109 single base substitution G A synonymous_variant D96D 288C>T ESCA-CN 17 55950109 55950109 single base substitution G A upstream_gene_variant ESCA-CN 17 55962682 55962682 single base substitution C A intron_variant ESCA-CN 17 55962682 55962682 single base substitution C A missense_variant D32Y 94G>T ESCA-CN 17 55962682 55962682 single base substitution C A missense_variant D82Y 244G>T KIRC-US 17 55948719 55948719 single base substitution A G downstream_gene_variant KIRC-US 17 55948719 55948719 single base substitution A G exon_variant KIRC-US 17 55948719 55948719 single base substitution A G missense_variant Y129H 385T>C KIRC-US 17 55948719 55948719 single base substitution A G missense_variant Y266H 796T>C KIRC-US 17 55948719 55948719 single base substitution A G missense_variant Y7H 19T>C KIRC-US 17 55948719 55948719 single base substitution A G upstream_gene_variant LGG-US 17 55946527 55946527 single base substitution G A downstream_gene_variant LGG-US 17 55946527 55946527 single base substitution G A exon_variant LGG-US 17 55946527 55946527 single base substitution G A intron_variant LGG-US 17 55946527 55946527 single base substitution G A missense_variant S162F 485C>T LGG-US 17 55946527 55946527 single base substitution G A missense_variant S299F 896C>T LGG-US 17 55946527 55946527 single base substitution G A upstream_gene_variant LICA-FR 17 55962682 55962682 single base substitution C G intron_variant LICA-FR 17 55962682 55962682 single base substitution C G missense_variant D32H 94G>C LICA-FR 17 55962682 55962682 single base substitution C G missense_variant D82H 244G>C LICA-FR 17 55997994 55997995 deletion of <=200bp TT - intron_variant LICA-FR 17 56021674 56021674 single base substitution T C intron_variant LICA-FR 17 56031549 56031549 single base substitution G C intron_variant LIHC-US 17 55945598 55945598 single base substitution C G downstream_gene_variant LIHC-US 17 55945598 55945598 single base substitution C G exon_variant LIHC-US 17 55945598 55945598 single base substitution C G intron_variant LIHC-US 17 55945598 55945598 single base substitution C G missense_variant R179P 536G>C LIHC-US 17 55945598 55945598 single base substitution C G missense_variant R316P 947G>C LIHC-US 17 55945598 55945598 single base substitution C G upstream_gene_variant LINC-JP 17 55944128 55944128 single base substitution T C exon_variant LINC-JP 17 55944128 55944128 single base substitution T C intron_variant LINC-JP 17 55944803 55944803 single base substitution C A exon_variant LINC-JP 17 55944803 55944803 single base substitution C A intron_variant LINC-JP 17 55944803 55944803 single base substitution C A upstream_gene_variant LINC-JP 17 55945332 55945332 single base substitution C T downstream_gene_variant LINC-JP 17 55945332 55945332 single base substitution C T intron_variant LINC-JP 17 55945332 55945332 single base substitution C T upstream_gene_variant LINC-JP 17 55945472 55945472 single base substitution C T downstream_gene_variant LINC-JP 17 55945472 55945472 single base substitution C T intron_variant LINC-JP 17 55945472 55945472 single base substitution C T upstream_gene_variant LINC-JP 17 55948740 55948740 single base substitution G C downstream_gene_variant LINC-JP 17 55948740 55948740 single base substitution G C intron_variant LINC-JP 17 55948740 55948740 single base substitution G C upstream_gene_variant LINC-JP 17 55954957 55954957 single base substitution T G intron_variant LINC-JP 17 55954957 55954957 single base substitution T G upstream_gene_variant LINC-JP 17 55957165 55957165 single base substitution C G intron_variant LINC-JP 17 55959548 55959548 deletion of <=200bp T - intron_variant LINC-JP 17 55963022 55963022 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 17 55963022 55963022 single base substitution G A intron_variant LINC-JP 17 55970736 55970736 single base substitution T G intron_variant LINC-JP 17 55970736 55970736 single base substitution T G upstream_gene_variant LINC-JP 17 55991837 55991837 single base substitution G A intron_variant LINC-JP 17 55998729 55998729 deletion of <=200bp A - intron_variant LINC-JP 17 56004758 56004758 deletion of <=200bp A - intron_variant LIRI-JP 17 55934888 55934888 single base substitution G A downstream_gene_variant LIRI-JP 17 55936316 55936316 single base substitution C A downstream_gene_variant LIRI-JP 17 55937112 55937112 single base substitution G A downstream_gene_variant LIRI-JP 17 55940524 55940524 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 55940524 55940524 single base substitution G A downstream_gene_variant LIRI-JP 17 55940524 55940524 single base substitution G A exon_variant LIRI-JP 17 55941174 55941174 single base substitution C G intron_variant LIRI-JP 17 55947901 55947901 single base substitution G A downstream_gene_variant LIRI-JP 17 55947901 55947901 single base substitution G A intron_variant LIRI-JP 17 55947901 55947901 single base substitution G A upstream_gene_variant LIRI-JP 17 55948764 55948764 single base substitution T G downstream_gene_variant LIRI-JP 17 55948764 55948764 single base substitution T G intron_variant LIRI-JP 17 55948764 55948764 single base substitution T G upstream_gene_variant LIRI-JP 17 55948897 55948897 single base substitution C T downstream_gene_variant LIRI-JP 17 55948897 55948897 single base substitution C T intron_variant LIRI-JP 17 55948897 55948897 single base substitution C T upstream_gene_variant LIRI-JP 17 55950752 55950752 single base substitution G T intron_variant LIRI-JP 17 55950752 55950752 single base substitution G T upstream_gene_variant LIRI-JP 17 55951558 55951558 single base substitution G A intron_variant LIRI-JP 17 55951558 55951558 single base substitution G A upstream_gene_variant LIRI-JP 17 55955505 55955505 single base substitution A G intron_variant LIRI-JP 17 55957138 55957138 single base substitution C T intron_variant LIRI-JP 17 55958693 55958693 single base substitution G A intron_variant LIRI-JP 17 55958781 55958781 single base substitution C T intron_variant LIRI-JP 17 55962177 55962177 single base substitution C A intron_variant LIRI-JP 17 55962712 55962712 single base substitution C T intron_variant LIRI-JP 17 55962712 55962712 single base substitution C T missense_variant A22T 64G>A LIRI-JP 17 55962712 55962712 single base substitution C T missense_variant A72T 214G>A LIRI-JP 17 55968261 55968261 single base substitution T C intron_variant LIRI-JP 17 55969870 55969870 single base substitution C T 5_prime_UTR_variant LIRI-JP 17 55969870 55969870 single base substitution C T intron_variant LIRI-JP 17 55976911 55976911 single base substitution T C intron_variant LIRI-JP 17 55977405 55977405 single base substitution G A intron_variant LIRI-JP 17 55978861 55978861 single base substitution C T intron_variant LIRI-JP 17 55981826 55981826 single base substitution T C intron_variant LIRI-JP 17 55981826 55981826 single base substitution T C upstream_gene_variant LIRI-JP 17 55982470 55982470 single base substitution T C intron_variant LIRI-JP 17 55982470 55982470 single base substitution T C upstream_gene_variant LIRI-JP 17 55982656 55982656 single base substitution A G intron_variant LIRI-JP 17 55982656 55982656 single base substitution A G upstream_gene_variant LIRI-JP 17 55983428 55983428 single base substitution G A intron_variant LIRI-JP 17 55983428 55983428 single base substitution G A upstream_gene_variant LIRI-JP 17 55985483 55985483 single base substitution T C intron_variant LIRI-JP 17 55985483 55985483 single base substitution T C upstream_gene_variant LIRI-JP 17 55988597 55988597 single base substitution C A intron_variant LIRI-JP 17 55990827 55990827 single base substitution T C intron_variant LIRI-JP 17 55991190 55991190 single base substitution C A intron_variant LIRI-JP 17 55991880 55991880 single base substitution T A intron_variant LIRI-JP 17 55992211 55992211 single base substitution T C intron_variant LIRI-JP 17 55994523 55994523 single base substitution G A intron_variant LIRI-JP 17 55999014 55999014 single base substitution T C intron_variant LIRI-JP 17 56002754 56002754 single base substitution G C intron_variant LIRI-JP 17 56007987 56007987 single base substitution C A intron_variant LIRI-JP 17 56008429 56008429 single base substitution T C intron_variant LIRI-JP 17 56015144 56015144 single base substitution G A intron_variant LIRI-JP 17 56016977 56016977 single base substitution C T intron_variant LIRI-JP 17 56017508 56017508 single base substitution T C intron_variant LIRI-JP 17 56018125 56018125 single base substitution A C intron_variant LIRI-JP 17 56018689 56018689 single base substitution G A intron_variant LIRI-JP 17 56022576 56022576 single base substitution T C intron_variant LIRI-JP 17 56024309 56024309 single base substitution C T intron_variant LIRI-JP 17 56025238 56025238 single base substitution T C intron_variant LIRI-JP 17 56034608 56034608 single base substitution T C upstream_gene_variant LIRI-JP 17 56034838 56034838 single base substitution A T upstream_gene_variant LIRI-JP 17 56035321 56035321 single base substitution T C upstream_gene_variant LIRI-JP 17 56035323 56035323 single base substitution A C upstream_gene_variant LIRI-JP 17 56036713 56036713 single base substitution C A upstream_gene_variant LIRI-JP 17 56037577 56037577 single base substitution C T upstream_gene_variant LUSC-KR 17 55936550 55936550 single base substitution T G downstream_gene_variant LUSC-KR 17 55940216 55940216 single base substitution G C 3_prime_UTR_variant LUSC-KR 17 55940216 55940216 single base substitution G C downstream_gene_variant LUSC-KR 17 55940216 55940216 single base substitution G C exon_variant LUSC-KR 17 55945033 55945033 single base substitution G A intron_variant LUSC-KR 17 55945033 55945033 single base substitution G A upstream_gene_variant LUSC-KR 17 55963000 55963000 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 17 55963000 55963000 single base substitution C A intron_variant LUSC-KR 17 55965251 55965251 single base substitution C T intron_variant LUSC-KR 17 55965251 55965251 single base substitution C T upstream_gene_variant LUSC-KR 17 55969036 55969036 single base substitution C G intron_variant LUSC-KR 17 55969095 55969095 single base substitution C A intron_variant LUSC-KR 17 55977270 55977270 single base substitution G A intron_variant LUSC-KR 17 55987986 55987986 single base substitution G C intron_variant LUSC-KR 17 55988882 55988882 single base substitution G C intron_variant LUSC-KR 17 56000256 56000256 single base substitution A T intron_variant LUSC-KR 17 56006566 56006566 single base substitution C T intron_variant LUSC-KR 17 56008070 56008070 single base substitution G A intron_variant LUSC-KR 17 56012767 56012767 single base substitution A C intron_variant LUSC-KR 17 56013104 56013104 single base substitution G T intron_variant LUSC-KR 17 56015484 56015484 single base substitution C G intron_variant LUSC-KR 17 56015718 56015718 single base substitution C A intron_variant LUSC-KR 17 56016445 56016445 single base substitution C G intron_variant LUSC-KR 17 56016657 56016657 single base substitution C G intron_variant LUSC-KR 17 56017021 56017021 single base substitution C G intron_variant LUSC-KR 17 56032074 56032074 single base substitution G C intron_variant LUSC-KR 17 56036363 56036363 single base substitution T A upstream_gene_variant LUSC-US 17 55948728 55948728 single base substitution G T downstream_gene_variant LUSC-US 17 55948728 55948728 single base substitution G T splice_region_variant LUSC-US 17 55948728 55948728 single base substitution G T upstream_gene_variant LUSC-US 17 55951058 55951058 single base substitution C G missense_variant G112A 335G>C LUSC-US 17 55951058 55951058 single base substitution C G missense_variant G162A 485G>C LUSC-US 17 55951058 55951058 single base substitution C G missense_variant G25A 74G>C LUSC-US 17 55951058 55951058 single base substitution C G upstream_gene_variant MALY-DE 17 55933901 55933901 insertion of <=200bp - T downstream_gene_variant MALY-DE 17 55938824 55938824 single base substitution G C 3_prime_UTR_variant MALY-DE 17 55938824 55938824 single base substitution G C downstream_gene_variant MALY-DE 17 55938825 55938825 single base substitution C T 3_prime_UTR_variant MALY-DE 17 55938825 55938825 single base substitution C T downstream_gene_variant MALY-DE 17 55939991 55939991 single base substitution G A 3_prime_UTR_variant MALY-DE 17 55939991 55939991 single base substitution G A downstream_gene_variant MALY-DE 17 55939991 55939991 single base substitution G A exon_variant MALY-DE 17 55960268 55960268 single base substitution A C intron_variant MALY-DE 17 55965712 55965712 single base substitution T G intron_variant MALY-DE 17 55965712 55965712 single base substitution T G upstream_gene_variant MALY-DE 17 55977754 55977754 insertion of <=200bp - C intron_variant MALY-DE 17 55982730 55982730 single base substitution G A intron_variant MALY-DE 17 55982730 55982730 single base substitution G A upstream_gene_variant MALY-DE 17 55992563 55992563 deletion of <=200bp A - intron_variant MALY-DE 17 56000900 56000900 single base substitution A G intron_variant MALY-DE 17 56002572 56002572 single base substitution A G intron_variant MALY-DE 17 56008062 56008062 single base substitution C A intron_variant MALY-DE 17 56009639 56009639 single base substitution T C intron_variant MALY-DE 17 56011101 56011101 single base substitution C T intron_variant MALY-DE 17 56014284 56014284 single base substitution C T intron_variant MALY-DE 17 56021011 56021011 single base substitution G A intron_variant MALY-DE 17 56029657 56029657 single base substitution G A intron_variant MELA-AU 17 55933833 55933833 single base substitution A T downstream_gene_variant MELA-AU 17 55933981 55933981 single base substitution T C downstream_gene_variant MELA-AU 17 55934264 55934264 single base substitution C T downstream_gene_variant MELA-AU 17 55934364 55934364 single base substitution G A downstream_gene_variant MELA-AU 17 55934831 55934831 single base substitution C T downstream_gene_variant MELA-AU 17 55935202 55935202 single base substitution G A downstream_gene_variant MELA-AU 17 55935470 55935470 single base substitution G A downstream_gene_variant MELA-AU 17 55935995 55935995 single base substitution G A downstream_gene_variant MELA-AU 17 55936699 55936700 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 55938222 55938222 single base substitution G A downstream_gene_variant MELA-AU 17 55939506 55939506 single base substitution G A 3_prime_UTR_variant MELA-AU 17 55939506 55939506 single base substitution G A downstream_gene_variant MELA-AU 17 55939506 55939506 single base substitution G A exon_variant MELA-AU 17 55939942 55939942 single base substitution C T 3_prime_UTR_variant MELA-AU 17 55939942 55939942 single base substitution C T downstream_gene_variant MELA-AU 17 55939942 55939942 single base substitution C T exon_variant MELA-AU 17 55940033 55940033 single base substitution G A 3_prime_UTR_variant MELA-AU 17 55940033 55940033 single base substitution G A downstream_gene_variant MELA-AU 17 55940033 55940033 single base substitution G A exon_variant MELA-AU 17 55940126 55940127 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 55940126 55940127 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 55940126 55940127 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 55940777 55940777 single base substitution G A intron_variant MELA-AU 17 55941017 55941017 single base substitution G A intron_variant MELA-AU 17 55941534 55941534 single base substitution G A intron_variant MELA-AU 17 55941676 55941676 single base substitution G A intron_variant MELA-AU 17 55941732 55941732 single base substitution G A intron_variant MELA-AU 17 55941798 55941798 single base substitution G A intron_variant MELA-AU 17 55941906 55941906 single base substitution G A intron_variant MELA-AU 17 55942478 55942478 single base substitution G A intron_variant MELA-AU 17 55942504 55942504 single base substitution G A intron_variant MELA-AU 17 55942649 55942649 single base substitution G A intron_variant MELA-AU 17 55943000 55943000 single base substitution A G intron_variant MELA-AU 17 55943247 55943247 single base substitution G A intron_variant MELA-AU 17 55944400 55944400 single base substitution G A exon_variant MELA-AU 17 55944400 55944400 single base substitution G A intron_variant MELA-AU 17 55944400 55944400 single base substitution G A upstream_gene_variant MELA-AU 17 55944521 55944521 single base substitution C T exon_variant MELA-AU 17 55944521 55944521 single base substitution C T intron_variant MELA-AU 17 55944521 55944521 single base substitution C T upstream_gene_variant MELA-AU 17 55945388 55945388 single base substitution G A downstream_gene_variant MELA-AU 17 55945388 55945388 single base substitution G A intron_variant MELA-AU 17 55945388 55945388 single base substitution G A upstream_gene_variant MELA-AU 17 55945511 55945511 single base substitution G A downstream_gene_variant MELA-AU 17 55945511 55945511 single base substitution G A intron_variant MELA-AU 17 55945511 55945511 single base substitution G A missense_variant S208L 623C>T MELA-AU 17 55945511 55945511 single base substitution G A missense_variant S345L 1034C>T MELA-AU 17 55945511 55945511 single base substitution G A splice_region_variant MELA-AU 17 55945511 55945511 single base substitution G A upstream_gene_variant MELA-AU 17 55945686 55945686 single base substitution G A downstream_gene_variant MELA-AU 17 55945686 55945686 single base substitution G A exon_variant MELA-AU 17 55945686 55945686 single base substitution G A intron_variant MELA-AU 17 55945686 55945686 single base substitution G A upstream_gene_variant MELA-AU 17 55946443 55946443 single base substitution G A downstream_gene_variant MELA-AU 17 55946443 55946443 single base substitution G A intron_variant MELA-AU 17 55946443 55946443 single base substitution G A upstream_gene_variant MELA-AU 17 55946508 55946508 single base substitution C T downstream_gene_variant MELA-AU 17 55946508 55946508 single base substitution C T exon_variant MELA-AU 17 55946508 55946508 single base substitution C T intron_variant MELA-AU 17 55946508 55946508 single base substitution C T synonymous_variant R168R 504G>A MELA-AU 17 55946508 55946508 single base substitution C T synonymous_variant R305R 915G>A MELA-AU 17 55946508 55946508 single base substitution C T upstream_gene_variant MELA-AU 17 55946645 55946645 single base substitution G A downstream_gene_variant MELA-AU 17 55946645 55946645 single base substitution G A intron_variant MELA-AU 17 55946645 55946645 single base substitution G A upstream_gene_variant MELA-AU 17 55946882 55946882 single base substitution G A downstream_gene_variant MELA-AU 17 55946882 55946882 single base substitution G A intron_variant MELA-AU 17 55946882 55946882 single base substitution G A upstream_gene_variant MELA-AU 17 55947349 55947349 single base substitution A T downstream_gene_variant MELA-AU 17 55947349 55947349 single base substitution A T intron_variant MELA-AU 17 55947349 55947349 single base substitution A T upstream_gene_variant MELA-AU 17 55947959 55947959 single base substitution G A downstream_gene_variant MELA-AU 17 55947959 55947959 single base substitution G A intron_variant MELA-AU 17 55947959 55947959 single base substitution G A upstream_gene_variant MELA-AU 17 55948056 55948056 single base substitution G A downstream_gene_variant MELA-AU 17 55948056 55948056 single base substitution G A intron_variant MELA-AU 17 55948056 55948056 single base substitution G A upstream_gene_variant MELA-AU 17 55948161 55948161 single base substitution C T downstream_gene_variant MELA-AU 17 55948161 55948161 single base substitution C T intron_variant MELA-AU 17 55948161 55948161 single base substitution C T upstream_gene_variant MELA-AU 17 55948286 55948286 single base substitution C T downstream_gene_variant MELA-AU 17 55948286 55948286 single base substitution C T intron_variant MELA-AU 17 55948286 55948286 single base substitution C T upstream_gene_variant MELA-AU 17 55948594 55948594 single base substitution G A downstream_gene_variant MELA-AU 17 55948594 55948594 single base substitution G A intron_variant MELA-AU 17 55948594 55948594 single base substitution G A upstream_gene_variant MELA-AU 17 55948975 55948975 single base substitution A T downstream_gene_variant MELA-AU 17 55948975 55948975 single base substitution A T intron_variant MELA-AU 17 55948975 55948975 single base substitution A T upstream_gene_variant MELA-AU 17 55949452 55949452 single base substitution G A downstream_gene_variant MELA-AU 17 55949452 55949452 single base substitution G A intron_variant MELA-AU 17 55949452 55949452 single base substitution G A upstream_gene_variant MELA-AU 17 55950167 55950167 single base substitution G A downstream_gene_variant MELA-AU 17 55950167 55950167 single base substitution G A missense_variant A214V 641C>T MELA-AU 17 55950167 55950167 single base substitution G A missense_variant A77V 230C>T MELA-AU 17 55950167 55950167 single base substitution G A upstream_gene_variant MELA-AU 17 55950350 55950350 single base substitution G A intron_variant MELA-AU 17 55950350 55950350 single base substitution G A upstream_gene_variant MELA-AU 17 55950379 55950379 single base substitution G A intron_variant MELA-AU 17 55950379 55950379 single base substitution G A upstream_gene_variant MELA-AU 17 55950985 55950985 single base substitution G A synonymous_variant L136L 408C>T MELA-AU 17 55950985 55950985 single base substitution G A synonymous_variant L186L 558C>T MELA-AU 17 55950985 55950985 single base substitution G A synonymous_variant L49L 147C>T MELA-AU 17 55950985 55950985 single base substitution G A upstream_gene_variant MELA-AU 17 55951168 55951169 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 55951168 55951169 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 55952021 55952021 single base substitution G C intron_variant MELA-AU 17 55952021 55952021 single base substitution G C upstream_gene_variant MELA-AU 17 55952941 55952941 single base substitution A T intron_variant MELA-AU 17 55952941 55952941 single base substitution A T upstream_gene_variant MELA-AU 17 55953189 55953189 single base substitution G A intron_variant MELA-AU 17 55953189 55953189 single base substitution G A upstream_gene_variant MELA-AU 17 55955527 55955527 single base substitution G A intron_variant MELA-AU 17 55956047 55956047 single base substitution A G intron_variant MELA-AU 17 55956058 55956058 single base substitution C T intron_variant MELA-AU 17 55956989 55956989 single base substitution G A synonymous_variant P12P 36C>T MELA-AU 17 55956989 55956989 single base substitution G A synonymous_variant P149P 447C>T MELA-AU 17 55956989 55956989 single base substitution G A synonymous_variant P99P 297C>T MELA-AU 17 55956991 55956991 single base substitution G A missense_variant P12S 34C>T MELA-AU 17 55956991 55956991 single base substitution G A missense_variant P149S 445C>T MELA-AU 17 55956991 55956991 single base substitution G A missense_variant P99S 295C>T MELA-AU 17 55957481 55957481 single base substitution C T intron_variant MELA-AU 17 55957519 55957519 single base substitution G A intron_variant MELA-AU 17 55957631 55957631 single base substitution C T intron_variant MELA-AU 17 55958090 55958090 single base substitution C T intron_variant MELA-AU 17 55958147 55958147 single base substitution T C intron_variant MELA-AU 17 55959288 55959288 single base substitution G A intron_variant MELA-AU 17 55959513 55959513 single base substitution G A intron_variant MELA-AU 17 55959820 55959820 single base substitution G A intron_variant MELA-AU 17 55960076 55960076 single base substitution G A intron_variant MELA-AU 17 55960380 55960380 single base substitution A G intron_variant MELA-AU 17 55960515 55960515 single base substitution G A intron_variant MELA-AU 17 55960579 55960579 single base substitution C A intron_variant MELA-AU 17 55961421 55961421 single base substitution G A intron_variant MELA-AU 17 55962155 55962155 single base substitution C T intron_variant MELA-AU 17 55962382 55962382 single base substitution G A intron_variant MELA-AU 17 55962597 55962598 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 55962597 55962598 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P110F 328CC>TT MELA-AU 17 55962597 55962598 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P60F 178CC>TT MELA-AU 17 55962770 55962770 single base substitution G T intron_variant MELA-AU 17 55962770 55962770 single base substitution G T missense_variant D2E 6C>A MELA-AU 17 55962770 55962770 single base substitution G T missense_variant D52E 156C>A MELA-AU 17 55962839 55962839 single base substitution G A intron_variant MELA-AU 17 55962839 55962839 single base substitution G A synonymous_variant A29A 87C>T MELA-AU 17 55962982 55962982 single base substitution G A 5_prime_UTR_variant MELA-AU 17 55962982 55962982 single base substitution G A intron_variant MELA-AU 17 55963050 55963051 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 17 55963050 55963051 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 55963095 55963095 single base substitution G A 5_prime_UTR_variant MELA-AU 17 55963095 55963095 single base substitution G A intron_variant MELA-AU 17 55963221 55963222 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 17 55963221 55963222 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 55963221 55963222 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 55963866 55963866 single base substitution G A intron_variant MELA-AU 17 55963866 55963866 single base substitution G A upstream_gene_variant MELA-AU 17 55964087 55964087 single base substitution G A intron_variant MELA-AU 17 55964087 55964087 single base substitution G A upstream_gene_variant MELA-AU 17 55964243 55964243 single base substitution G A intron_variant MELA-AU 17 55964243 55964243 single base substitution G A upstream_gene_variant MELA-AU 17 55965595 55965595 single base substitution G A intron_variant MELA-AU 17 55965595 55965595 single base substitution G A upstream_gene_variant MELA-AU 17 55966672 55966673 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 55966672 55966673 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 55966752 55966752 single base substitution G A intron_variant MELA-AU 17 55966752 55966752 single base substitution G A upstream_gene_variant MELA-AU 17 55967327 55967327 single base substitution G A intron_variant MELA-AU 17 55967327 55967327 single base substitution G A upstream_gene_variant MELA-AU 17 55967908 55967908 single base substitution G A intron_variant MELA-AU 17 55967908 55967908 single base substitution G A upstream_gene_variant MELA-AU 17 55967990 55967990 single base substitution A G intron_variant MELA-AU 17 55967990 55967990 single base substitution A G upstream_gene_variant MELA-AU 17 55968070 55968071 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 55968070 55968071 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 55968163 55968163 single base substitution C T intron_variant MELA-AU 17 55968163 55968163 single base substitution C T upstream_gene_variant MELA-AU 17 55969330 55969330 single base substitution C T intron_variant MELA-AU 17 55970022 55970022 single base substitution G A 5_prime_UTR_variant MELA-AU 17 55970022 55970022 single base substitution G A intron_variant MELA-AU 17 55971004 55971004 single base substitution G A intron_variant MELA-AU 17 55971004 55971004 single base substitution G A upstream_gene_variant MELA-AU 17 55971060 55971060 single base substitution G A intron_variant MELA-AU 17 55971060 55971060 single base substitution G A upstream_gene_variant MELA-AU 17 55971180 55971180 single base substitution G A intron_variant MELA-AU 17 55971180 55971180 single base substitution G A upstream_gene_variant MELA-AU 17 55972130 55972130 single base substitution G A intron_variant MELA-AU 17 55972130 55972130 single base substitution G A upstream_gene_variant MELA-AU 17 55973250 55973250 single base substitution G A intron_variant MELA-AU 17 55973250 55973250 single base substitution G A upstream_gene_variant MELA-AU 17 55973512 55973512 single base substitution C T intron_variant MELA-AU 17 55973512 55973512 single base substitution C T upstream_gene_variant MELA-AU 17 55973969 55973969 single base substitution G A intron_variant MELA-AU 17 55973969 55973969 single base substitution G A upstream_gene_variant MELA-AU 17 55976140 55976140 single base substitution C T intron_variant MELA-AU 17 55976880 55976880 single base substitution G A intron_variant MELA-AU 17 55977519 55977519 single base substitution G A intron_variant MELA-AU 17 55978528 55978529 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 55978758 55978758 single base substitution G A intron_variant MELA-AU 17 55978897 55978897 single base substitution C A intron_variant MELA-AU 17 55978960 55978960 single base substitution C T intron_variant MELA-AU 17 55979090 55979090 single base substitution G A intron_variant MELA-AU 17 55979095 55979095 single base substitution G A intron_variant MELA-AU 17 55979566 55979566 single base substitution C A intron_variant MELA-AU 17 55980083 55980083 single base substitution A C intron_variant MELA-AU 17 55980409 55980409 single base substitution G A 5_prime_UTR_variant MELA-AU 17 55980409 55980409 single base substitution G A intron_variant MELA-AU 17 55980603 55980603 single base substitution C T 5_prime_UTR_variant MELA-AU 17 55980603 55980603 single base substitution C T intron_variant MELA-AU 17 55981686 55981686 single base substitution C A intron_variant MELA-AU 17 55981686 55981686 single base substitution C A upstream_gene_variant MELA-AU 17 55982162 55982162 single base substitution G A intron_variant MELA-AU 17 55982162 55982162 single base substitution G A upstream_gene_variant MELA-AU 17 55982436 55982436 single base substitution G A intron_variant MELA-AU 17 55982436 55982436 single base substitution G A upstream_gene_variant MELA-AU 17 55982968 55982968 single base substitution G A intron_variant MELA-AU 17 55982968 55982968 single base substitution G A upstream_gene_variant MELA-AU 17 55982970 55982970 single base substitution G A intron_variant MELA-AU 17 55982970 55982970 single base substitution G A upstream_gene_variant MELA-AU 17 55983207 55983207 single base substitution G A intron_variant MELA-AU 17 55983207 55983207 single base substitution G A upstream_gene_variant MELA-AU 17 55983543 55983543 single base substitution C T intron_variant MELA-AU 17 55983543 55983543 single base substitution C T upstream_gene_variant MELA-AU 17 55986134 55986134 single base substitution G A intron_variant MELA-AU 17 55986703 55986703 single base substitution A C intron_variant MELA-AU 17 55986759 55986759 single base substitution T C intron_variant MELA-AU 17 55987555 55987555 single base substitution G A intron_variant MELA-AU 17 55987690 55987690 single base substitution C T intron_variant MELA-AU 17 55988507 55988507 single base substitution G A intron_variant MELA-AU 17 55989523 55989523 single base substitution C A intron_variant MELA-AU 17 55989752 55989753 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 55989867 55989867 single base substitution G A intron_variant MELA-AU 17 55990017 55990017 single base substitution G A intron_variant MELA-AU 17 55990195 55990195 single base substitution C T intron_variant MELA-AU 17 55990218 55990218 single base substitution G A intron_variant MELA-AU 17 55990309 55990309 single base substitution G A intron_variant MELA-AU 17 55990675 55990675 single base substitution A G intron_variant MELA-AU 17 55990974 55990974 single base substitution G A intron_variant MELA-AU 17 55991004 55991004 single base substitution G A intron_variant MELA-AU 17 55992937 55992937 single base substitution G C intron_variant MELA-AU 17 55993162 55993162 single base substitution G A intron_variant MELA-AU 17 55993837 55993837 single base substitution A C intron_variant MELA-AU 17 55994275 55994275 single base substitution C T intron_variant MELA-AU 17 55994582 55994582 single base substitution C T intron_variant MELA-AU 17 55994690 55994690 single base substitution G A intron_variant MELA-AU 17 55995058 55995058 single base substitution G A intron_variant MELA-AU 17 55995571 55995571 single base substitution G A intron_variant MELA-AU 17 55996563 55996563 single base substitution G A intron_variant MELA-AU 17 55997817 55997817 single base substitution G A intron_variant MELA-AU 17 55997984 55997984 insertion of <=200bp - TTTTCTTTTC intron_variant MELA-AU 17 55998803 55998803 single base substitution G A intron_variant MELA-AU 17 55999630 55999630 single base substitution C T intron_variant MELA-AU 17 56000068 56000068 single base substitution G A intron_variant MELA-AU 17 56000071 56000071 single base substitution G A intron_variant MELA-AU 17 56000224 56000224 single base substitution G A intron_variant MELA-AU 17 56000322 56000322 single base substitution G A intron_variant MELA-AU 17 56001003 56001003 single base substitution G A intron_variant MELA-AU 17 56002343 56002343 single base substitution T C intron_variant MELA-AU 17 56002538 56002538 single base substitution A C intron_variant MELA-AU 17 56002875 56002875 single base substitution C A intron_variant MELA-AU 17 56003478 56003478 single base substitution G A intron_variant MELA-AU 17 56003760 56003760 single base substitution C T intron_variant MELA-AU 17 56003963 56003963 single base substitution G A intron_variant MELA-AU 17 56005036 56005037 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56005500 56005501 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56005508 56005508 single base substitution C T intron_variant MELA-AU 17 56005817 56005818 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56006647 56006647 single base substitution G A intron_variant MELA-AU 17 56007384 56007384 single base substitution G A intron_variant MELA-AU 17 56007461 56007461 single base substitution G A intron_variant MELA-AU 17 56008192 56008193 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 56008206 56008206 single base substitution G T intron_variant MELA-AU 17 56008260 56008260 single base substitution G A intron_variant MELA-AU 17 56008894 56008894 single base substitution G A intron_variant MELA-AU 17 56009352 56009352 single base substitution G A intron_variant MELA-AU 17 56009424 56009424 single base substitution G A intron_variant MELA-AU 17 56009704 56009704 single base substitution C T intron_variant MELA-AU 17 56009713 56009713 single base substitution G A intron_variant MELA-AU 17 56010117 56010117 single base substitution G A intron_variant MELA-AU 17 56010414 56010415 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56010620 56010620 single base substitution C T intron_variant MELA-AU 17 56011528 56011528 single base substitution G A intron_variant MELA-AU 17 56012765 56012765 single base substitution C A intron_variant MELA-AU 17 56013325 56013325 single base substitution C T intron_variant MELA-AU 17 56013973 56013973 single base substitution G C intron_variant MELA-AU 17 56014763 56014764 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 56014866 56014866 single base substitution G A intron_variant MELA-AU 17 56015355 56015355 single base substitution A T intron_variant MELA-AU 17 56015528 56015528 single base substitution G A intron_variant MELA-AU 17 56015889 56015889 single base substitution G A intron_variant MELA-AU 17 56015975 56015975 single base substitution G A intron_variant MELA-AU 17 56016923 56016923 single base substitution G A intron_variant MELA-AU 17 56017801 56017801 single base substitution G A intron_variant MELA-AU 17 56019234 56019234 single base substitution G A intron_variant MELA-AU 17 56019853 56019853 single base substitution G A intron_variant MELA-AU 17 56020879 56020879 single base substitution A G intron_variant MELA-AU 17 56023121 56023121 single base substitution C T intron_variant MELA-AU 17 56025184 56025184 single base substitution A G intron_variant MELA-AU 17 56025419 56025419 single base substitution G A intron_variant MELA-AU 17 56025947 56025947 single base substitution C G intron_variant MELA-AU 17 56026815 56026816 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 56028013 56028013 single base substitution T C intron_variant MELA-AU 17 56028927 56028927 single base substitution C T intron_variant MELA-AU 17 56029221 56029221 single base substitution G A intron_variant MELA-AU 17 56032249 56032249 single base substitution C T intron_variant MELA-AU 17 56033586 56033586 single base substitution C T upstream_gene_variant MELA-AU 17 56033821 56033821 single base substitution A G upstream_gene_variant MELA-AU 17 56033880 56033880 single base substitution G A upstream_gene_variant MELA-AU 17 56034742 56034742 single base substitution C T upstream_gene_variant MELA-AU 17 56034791 56034791 single base substitution C T upstream_gene_variant MELA-AU 17 56034890 56034890 single base substitution C T upstream_gene_variant MELA-AU 17 56035270 56035270 single base substitution C T upstream_gene_variant MELA-AU 17 56035858 56035858 single base substitution C T upstream_gene_variant MELA-AU 17 56036361 56036361 single base substitution G A upstream_gene_variant MELA-AU 17 56036556 56036556 single base substitution C T upstream_gene_variant MELA-AU 17 56036605 56036605 single base substitution C T upstream_gene_variant MELA-AU 17 56036667 56036667 single base substitution C T upstream_gene_variant MELA-AU 17 56036927 56036927 single base substitution C T upstream_gene_variant MELA-AU 17 56036960 56036960 single base substitution G A upstream_gene_variant MELA-AU 17 56037061 56037061 single base substitution C T upstream_gene_variant MELA-AU 17 56037159 56037159 single base substitution G A upstream_gene_variant MELA-AU 17 56037218 56037218 single base substitution C T upstream_gene_variant MELA-AU 17 56037614 56037614 single base substitution G A upstream_gene_variant ORCA-IN 17 55946323 55946323 single base substitution G A downstream_gene_variant ORCA-IN 17 55946323 55946323 single base substitution G A intron_variant ORCA-IN 17 55946323 55946323 single base substitution G A upstream_gene_variant ORCA-IN 17 55949862 55949862 single base substitution C G downstream_gene_variant ORCA-IN 17 55949862 55949862 single base substitution C G intron_variant ORCA-IN 17 55949862 55949862 single base substitution C G upstream_gene_variant ORCA-IN 17 55971020 55971020 single base substitution C T intron_variant ORCA-IN 17 55971020 55971020 single base substitution C T upstream_gene_variant ORCA-IN 17 55973854 55973854 single base substitution T G intron_variant ORCA-IN 17 55973854 55973854 single base substitution T G upstream_gene_variant ORCA-IN 17 56010564 56010564 single base substitution A T intron_variant ORCA-IN 17 56012769 56012769 single base substitution C A intron_variant ORCA-IN 17 56034189 56034189 single base substitution G A upstream_gene_variant ORCA-IN 17 56034663 56034663 single base substitution C T upstream_gene_variant OV-AU 17 55944567 55944567 single base substitution G A exon_variant OV-AU 17 55944567 55944567 single base substitution G A intron_variant OV-AU 17 55944567 55944567 single base substitution G A upstream_gene_variant OV-AU 17 55949731 55949731 single base substitution G T downstream_gene_variant OV-AU 17 55949731 55949731 single base substitution G T intron_variant OV-AU 17 55949731 55949731 single base substitution G T upstream_gene_variant OV-AU 17 55952037 55952037 single base substitution G T intron_variant OV-AU 17 55952037 55952037 single base substitution G T upstream_gene_variant OV-AU 17 55960913 55960913 single base substitution C A intron_variant OV-AU 17 55974132 55974132 single base substitution T C intron_variant OV-AU 17 55974132 55974132 single base substitution T C upstream_gene_variant OV-AU 17 55987022 55987022 single base substitution C T intron_variant OV-AU 17 55989523 55989523 single base substitution C G intron_variant OV-AU 17 55996769 55996769 single base substitution G T intron_variant OV-AU 17 55998326 55998326 single base substitution T C intron_variant OV-AU 17 55998377 55998377 single base substitution G A intron_variant OV-AU 17 56007978 56007978 single base substitution G T intron_variant OV-AU 17 56008247 56008247 single base substitution G C intron_variant OV-AU 17 56012777 56012777 single base substitution C A intron_variant OV-AU 17 56016429 56016429 single base substitution A C intron_variant OV-AU 17 56024591 56024591 single base substitution G C intron_variant OV-AU 17 56026660 56026660 single base substitution T A intron_variant OV-AU 17 56026737 56026737 single base substitution A G intron_variant OV-AU 17 56029612 56029612 single base substitution A C intron_variant OV-AU 17 56030836 56030836 single base substitution G T intron_variant OV-AU 17 56032457 56032457 single base substitution G A intron_variant PACA-AU 17 55936113 55936113 deletion of <=200bp C - downstream_gene_variant PACA-AU 17 55937241 55937241 single base substitution G A downstream_gene_variant PACA-AU 17 55941475 55941475 single base substitution G A intron_variant PACA-AU 17 55943506 55943506 single base substitution C G intron_variant PACA-AU 17 55946005 55946005 insertion of <=200bp - A downstream_gene_variant PACA-AU 17 55946005 55946005 insertion of <=200bp - A intron_variant PACA-AU 17 55946005 55946005 insertion of <=200bp - A upstream_gene_variant PACA-AU 17 55949157 55949157 single base substitution C T downstream_gene_variant PACA-AU 17 55949157 55949157 single base substitution C T intron_variant PACA-AU 17 55949157 55949157 single base substitution C T upstream_gene_variant PACA-AU 17 55950057 55950057 single base substitution G A downstream_gene_variant PACA-AU 17 55950057 55950057 single base substitution G A missense_variant R114W 340C>T PACA-AU 17 55950057 55950057 single base substitution G A missense_variant R251W 751C>T PACA-AU 17 55950057 55950057 single base substitution G A upstream_gene_variant PACA-AU 17 55951428 55951428 single base substitution A G intron_variant PACA-AU 17 55951428 55951428 single base substitution A G upstream_gene_variant PACA-AU 17 55952881 55952881 single base substitution C T intron_variant PACA-AU 17 55952881 55952881 single base substitution C T upstream_gene_variant PACA-AU 17 55956783 55956783 single base substitution T A intron_variant PACA-AU 17 55961039 55961039 single base substitution G A intron_variant PACA-AU 17 55961442 55961442 single base substitution T C intron_variant PACA-AU 17 55962272 55962272 single base substitution C T intron_variant PACA-AU 17 55974458 55974458 single base substitution C G intron_variant PACA-AU 17 55974458 55974458 single base substitution C G upstream_gene_variant PACA-AU 17 55979398 55979398 single base substitution G C intron_variant PACA-AU 17 55979749 55979750 deletion of <=200bp AT - intron_variant PACA-AU 17 55980808 55980808 single base substitution A G intron_variant PACA-AU 17 55980808 55980808 single base substitution A G upstream_gene_variant PACA-AU 17 55982135 55982135 deletion of <=200bp G - intron_variant PACA-AU 17 55982135 55982135 deletion of <=200bp G - upstream_gene_variant PACA-AU 17 55983123 55983132 deletion of <=200bp TGGATGTCCA - intron_variant PACA-AU 17 55983123 55983132 deletion of <=200bp TGGATGTCCA - upstream_gene_variant PACA-AU 17 55983678 55983678 single base substitution A G intron_variant PACA-AU 17 55983678 55983678 single base substitution A G upstream_gene_variant PACA-AU 17 55988396 55988396 single base substitution C T intron_variant PACA-AU 17 55993414 55993414 single base substitution C G intron_variant PACA-AU 17 55993973 55993973 single base substitution G A intron_variant PACA-AU 17 55997776 55997777 deletion of <=200bp CA - intron_variant PACA-AU 17 56001170 56001170 single base substitution A G intron_variant PACA-AU 17 56009226 56009226 single base substitution C A intron_variant PACA-AU 17 56010992 56010992 single base substitution T C intron_variant PACA-AU 17 56013758 56013758 single base substitution T C intron_variant PACA-AU 17 56013839 56013839 single base substitution T C intron_variant PACA-AU 17 56015810 56015810 single base substitution C T intron_variant PACA-AU 17 56016992 56016992 single base substitution G A intron_variant PACA-AU 17 56023926 56023926 single base substitution A T intron_variant PACA-AU 17 56024916 56024916 single base substitution T A intron_variant PACA-AU 17 56029595 56029595 single base substitution T A intron_variant PACA-AU 17 56030620 56030620 single base substitution G A intron_variant PACA-AU 17 56036606 56036606 single base substitution C T upstream_gene_variant PACA-CA 17 55933944 55933944 single base substitution G T downstream_gene_variant PACA-CA 17 55934077 55934077 single base substitution G T downstream_gene_variant PACA-CA 17 55935664 55935664 single base substitution A C downstream_gene_variant PACA-CA 17 55938635 55938635 single base substitution A G 3_prime_UTR_variant PACA-CA 17 55938635 55938635 single base substitution A G downstream_gene_variant PACA-CA 17 55942451 55942451 insertion of <=200bp - A intron_variant PACA-CA 17 55945584 55945584 single base substitution C T downstream_gene_variant PACA-CA 17 55945584 55945584 single base substitution C T exon_variant PACA-CA 17 55945584 55945584 single base substitution C T intron_variant PACA-CA 17 55945584 55945584 single base substitution C T missense_variant E184K 550G>A PACA-CA 17 55945584 55945584 single base substitution C T missense_variant E321K 961G>A PACA-CA 17 55945584 55945584 single base substitution C T upstream_gene_variant PACA-CA 17 55950440 55950440 single base substitution C T intron_variant PACA-CA 17 55950440 55950440 single base substitution C T upstream_gene_variant PACA-CA 17 55950939 55950939 single base substitution C T intron_variant PACA-CA 17 55950939 55950939 single base substitution C T upstream_gene_variant PACA-CA 17 55955559 55955559 single base substitution T C intron_variant PACA-CA 17 55956010 55956010 single base substitution T C intron_variant PACA-CA 17 55959857 55959857 single base substitution T C intron_variant PACA-CA 17 55967826 55967826 single base substitution G T intron_variant PACA-CA 17 55967826 55967826 single base substitution G T upstream_gene_variant PACA-CA 17 55970098 55970098 insertion of <=200bp - C intron_variant PACA-CA 17 55970098 55970098 insertion of <=200bp - C upstream_gene_variant PACA-CA 17 55970171 55970171 single base substitution G T intron_variant PACA-CA 17 55970171 55970171 single base substitution G T upstream_gene_variant PACA-CA 17 55973742 55973742 single base substitution C A intron_variant PACA-CA 17 55973742 55973742 single base substitution C A upstream_gene_variant PACA-CA 17 55976954 55976954 single base substitution A T intron_variant PACA-CA 17 55977000 55977000 single base substitution C A intron_variant PACA-CA 17 55979581 55979581 deletion of <=200bp A - intron_variant PACA-CA 17 55987407 55987407 single base substitution T C intron_variant PACA-CA 17 55990722 55990722 single base substitution C A intron_variant PACA-CA 17 56000256 56000256 single base substitution A T intron_variant PACA-CA 17 56001753 56001753 single base substitution C T intron_variant PACA-CA 17 56002303 56002303 single base substitution A C intron_variant PACA-CA 17 56002442 56002442 single base substitution A G intron_variant PACA-CA 17 56003701 56003701 single base substitution G A intron_variant PACA-CA 17 56004527 56004527 single base substitution G C intron_variant PACA-CA 17 56007383 56007383 single base substitution C T intron_variant PACA-CA 17 56007594 56007594 single base substitution G A intron_variant PACA-CA 17 56008267 56008267 single base substitution T C intron_variant PACA-CA 17 56008552 56008552 single base substitution A C intron_variant PACA-CA 17 56012769 56012769 single base substitution C A intron_variant PACA-CA 17 56013567 56013567 single base substitution G T intron_variant PACA-CA 17 56016242 56016242 single base substitution C T intron_variant PACA-CA 17 56018185 56018185 single base substitution A G intron_variant PACA-CA 17 56020631 56020631 single base substitution C G intron_variant PACA-CA 17 56022420 56022420 single base substitution T C intron_variant PACA-CA 17 56022561 56022561 single base substitution C G intron_variant PACA-CA 17 56023365 56023365 single base substitution T A intron_variant PACA-CA 17 56023381 56023381 single base substitution A C intron_variant PACA-CA 17 56023926 56023926 single base substitution A T intron_variant PACA-CA 17 56024876 56024876 single base substitution C T intron_variant PACA-CA 17 56027826 56027826 single base substitution T A intron_variant PACA-CA 17 56027842 56027842 single base substitution T A intron_variant PACA-CA 17 56033140 56033140 single base substitution T C upstream_gene_variant PACA-CA 17 56033476 56033476 single base substitution T A upstream_gene_variant PACA-CA 17 56034130 56034130 single base substitution C G upstream_gene_variant PACA-CA 17 56036324 56036324 single base substitution C T upstream_gene_variant PAEN-AU 17 55961514 55961514 single base substitution G A intron_variant PAEN-AU 17 55964478 55964478 single base substitution G A intron_variant PAEN-AU 17 55964478 55964478 single base substitution G A upstream_gene_variant PAEN-AU 17 55967917 55967917 single base substitution G A intron_variant PAEN-AU 17 55967917 55967917 single base substitution G A upstream_gene_variant PAEN-AU 17 55987397 55987397 single base substitution T C intron_variant PAEN-AU 17 56000427 56000427 single base substitution T G intron_variant PAEN-AU 17 56008569 56008569 single base substitution G T intron_variant PAEN-AU 17 56012075 56012075 single base substitution G A intron_variant PAEN-AU 17 56029593 56029593 single base substitution G T intron_variant PAEN-IT 17 55943745 55943745 single base substitution C T intron_variant PAEN-IT 17 55969683 55969683 single base substitution C A intron_variant PAEN-IT 17 55976955 55976955 single base substitution G A intron_variant PAEN-IT 17 56020484 56020484 single base substitution G T intron_variant PAEN-IT 17 56020485 56020485 single base substitution C T intron_variant PAEN-IT 17 56032018 56032018 single base substitution C G intron_variant PBCA-DE 17 55941924 55941924 single base substitution G A intron_variant PBCA-DE 17 55958340 55958340 single base substitution T G intron_variant PBCA-DE 17 55972053 55972053 single base substitution C T intron_variant PBCA-DE 17 55972053 55972053 single base substitution C T upstream_gene_variant PBCA-DE 17 55984915 55984915 single base substitution G A intron_variant PBCA-DE 17 55984915 55984915 single base substitution G A upstream_gene_variant PBCA-DE 17 55985219 55985219 single base substitution T A intron_variant PBCA-DE 17 55985219 55985219 single base substitution T A upstream_gene_variant PBCA-DE 17 55993241 55993241 single base substitution C T intron_variant PBCA-DE 17 55997776 55997777 deletion of <=200bp CA - intron_variant PBCA-DE 17 56001344 56001344 insertion of <=200bp - T intron_variant PBCA-DE 17 56004335 56004335 single base substitution G A intron_variant PBCA-DE 17 56008206 56008206 single base substitution G A intron_variant PBCA-DE 17 56012707 56012707 deletion of <=200bp T - intron_variant PBCA-DE 17 56016432 56016432 deletion of <=200bp G - intron_variant PBCA-DE 17 56017635 56017635 single base substitution T G intron_variant PBCA-DE 17 56028891 56028891 single base substitution C T intron_variant PBCA-DE 17 56030480 56030480 single base substitution T G intron_variant PRAD-CA 17 55936480 55936480 single base substitution G A downstream_gene_variant PRAD-CA 17 55965082 55965082 single base substitution T C intron_variant PRAD-CA 17 55965082 55965082 single base substitution T C upstream_gene_variant PRAD-CA 17 55981952 55981952 single base substitution T C intron_variant PRAD-CA 17 55981952 55981952 single base substitution T C upstream_gene_variant PRAD-CA 17 56012767 56012767 single base substitution A C intron_variant PRAD-UK 17 55951788 55951788 single base substitution G A intron_variant PRAD-UK 17 55951788 55951788 single base substitution G A upstream_gene_variant PRAD-UK 17 55960148 55960148 single base substitution A C intron_variant PRAD-UK 17 55967225 55967225 single base substitution C T intron_variant PRAD-UK 17 55967225 55967225 single base substitution C T upstream_gene_variant PRAD-UK 17 55970244 55970244 single base substitution T A intron_variant PRAD-UK 17 55970244 55970244 single base substitution T A upstream_gene_variant PRAD-UK 17 55996826 55996826 single base substitution C A intron_variant PRAD-UK 17 55998113 55998113 single base substitution C G intron_variant PRAD-UK 17 56014571 56014571 insertion of <=200bp - TTGA intron_variant PRAD-UK 17 56024862 56024862 single base substitution T G intron_variant PRAD-UK 17 56025576 56025576 single base substitution C T intron_variant PRAD-UK 17 56032691 56032720 deletion of <=200bp GGCGGCGGCGGCGCGGCTGGGGCGCGGGGA - upstream_gene_variant READ-US 17 55945533 55945533 single base substitution T A downstream_gene_variant READ-US 17 55945533 55945533 single base substitution T A exon_variant READ-US 17 55945533 55945533 single base substitution T A intron_variant READ-US 17 55945533 55945533 single base substitution T A stop_gained K201* 601A>T READ-US 17 55945533 55945533 single base substitution T A stop_gained K338* 1012A>T READ-US 17 55945533 55945533 single base substitution T A upstream_gene_variant RECA-EU 17 55953075 55953075 single base substitution A C intron_variant RECA-EU 17 55953075 55953075 single base substitution A C upstream_gene_variant RECA-EU 17 55967358 55967358 single base substitution A C intron_variant RECA-EU 17 55967358 55967358 single base substitution A C upstream_gene_variant RECA-EU 17 55979020 55979020 single base substitution G A intron_variant RECA-EU 17 55980815 55980815 single base substitution C T intron_variant RECA-EU 17 55980815 55980815 single base substitution C T upstream_gene_variant RECA-EU 17 55998865 55998865 single base substitution T G intron_variant RECA-EU 17 56004950 56004950 single base substitution G T intron_variant RECA-EU 17 56013840 56013840 single base substitution G A intron_variant RECA-EU 17 56028136 56028136 single base substitution C T intron_variant RECA-EU 17 56031097 56031097 single base substitution G C intron_variant RECA-EU 17 56033578 56033578 single base substitution G A upstream_gene_variant SKCA-BR 17 55934568 55934568 single base substitution G A downstream_gene_variant SKCA-BR 17 55939164 55939164 insertion of <=200bp - AC 3_prime_UTR_variant SKCA-BR 17 55939164 55939164 insertion of <=200bp - AC downstream_gene_variant SKCA-BR 17 55939164 55939164 insertion of <=200bp - AC exon_variant SKCA-BR 17 55940127 55940127 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 55940127 55940127 single base substitution G A downstream_gene_variant SKCA-BR 17 55940127 55940127 single base substitution G A exon_variant SKCA-BR 17 55942824 55942824 single base substitution A C intron_variant SKCA-BR 17 55945420 55945420 single base substitution G A downstream_gene_variant SKCA-BR 17 55945420 55945420 single base substitution G A intron_variant SKCA-BR 17 55945420 55945420 single base substitution G A upstream_gene_variant SKCA-BR 17 55946087 55946087 single base substitution A G downstream_gene_variant SKCA-BR 17 55946087 55946087 single base substitution A G intron_variant SKCA-BR 17 55946087 55946087 single base substitution A G upstream_gene_variant SKCA-BR 17 55950647 55950647 single base substitution A G intron_variant SKCA-BR 17 55950647 55950647 single base substitution A G upstream_gene_variant SKCA-BR 17 55950678 55950678 single base substitution A C intron_variant SKCA-BR 17 55950678 55950678 single base substitution A C upstream_gene_variant SKCA-BR 17 55951165 55951165 single base substitution G A intron_variant SKCA-BR 17 55951165 55951165 single base substitution G A upstream_gene_variant SKCA-BR 17 55953030 55953030 single base substitution T G intron_variant SKCA-BR 17 55953030 55953030 single base substitution T G upstream_gene_variant SKCA-BR 17 55954357 55954357 single base substitution C T intron_variant SKCA-BR 17 55954357 55954357 single base substitution C T upstream_gene_variant SKCA-BR 17 55955245 55955245 insertion of <=200bp - CA intron_variant SKCA-BR 17 55955424 55955424 single base substitution G C intron_variant SKCA-BR 17 55958101 55958101 single base substitution G A intron_variant SKCA-BR 17 55959125 55959125 single base substitution T C intron_variant SKCA-BR 17 55960111 55960111 single base substitution G A intron_variant SKCA-BR 17 55961192 55961192 single base substitution G A intron_variant SKCA-BR 17 55962851 55962851 single base substitution T C intron_variant SKCA-BR 17 55962851 55962851 single base substitution T C synonymous_variant G25G 75A>G SKCA-BR 17 55962881 55962881 single base substitution A C intron_variant SKCA-BR 17 55962881 55962881 single base substitution A C synonymous_variant G15G 45T>G SKCA-BR 17 55970710 55970710 insertion of <=200bp - ATG intron_variant SKCA-BR 17 55970710 55970710 insertion of <=200bp - ATG upstream_gene_variant SKCA-BR 17 55970915 55970915 single base substitution G C intron_variant SKCA-BR 17 55970915 55970915 single base substitution G C upstream_gene_variant SKCA-BR 17 55973845 55973845 insertion of <=200bp - TGGGG intron_variant SKCA-BR 17 55973845 55973845 insertion of <=200bp - TGGGG upstream_gene_variant SKCA-BR 17 55973848 55973848 insertion of <=200bp - GGGGTGT intron_variant SKCA-BR 17 55973848 55973848 insertion of <=200bp - GGGGTGT upstream_gene_variant SKCA-BR 17 55973850 55973850 single base substitution T G intron_variant SKCA-BR 17 55973850 55973850 single base substitution T G upstream_gene_variant SKCA-BR 17 55974116 55974116 single base substitution T G intron_variant SKCA-BR 17 55974116 55974116 single base substitution T G upstream_gene_variant SKCA-BR 17 55976616 55976616 single base substitution A C intron_variant SKCA-BR 17 55980973 55980973 single base substitution G T intron_variant SKCA-BR 17 55980973 55980973 single base substitution G T upstream_gene_variant SKCA-BR 17 55982848 55982848 single base substitution A G intron_variant SKCA-BR 17 55982848 55982848 single base substitution A G upstream_gene_variant SKCA-BR 17 55984998 55984998 single base substitution G C intron_variant SKCA-BR 17 55984998 55984998 single base substitution G C upstream_gene_variant SKCA-BR 17 55985200 55985201 deletion of <=200bp CA - intron_variant SKCA-BR 17 55985200 55985201 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 55987003 55987003 single base substitution G A intron_variant SKCA-BR 17 55987212 55987212 single base substitution G A intron_variant SKCA-BR 17 55987221 55987221 single base substitution T G intron_variant SKCA-BR 17 55995062 55995062 single base substitution C A intron_variant SKCA-BR 17 55995110 55995110 single base substitution A C intron_variant SKCA-BR 17 55997983 55997983 insertion of <=200bp - TTTTTCTTTTC intron_variant SKCA-BR 17 56000167 56000167 single base substitution C T intron_variant SKCA-BR 17 56002479 56002479 insertion of <=200bp - TA intron_variant SKCA-BR 17 56003139 56003139 single base substitution T G intron_variant SKCA-BR 17 56003571 56003571 single base substitution A C intron_variant SKCA-BR 17 56004757 56004757 insertion of <=200bp - GA intron_variant SKCA-BR 17 56012739 56012739 insertion of <=200bp - GACACACAC intron_variant SKCA-BR 17 56014775 56014775 single base substitution C T intron_variant SKCA-BR 17 56014880 56014880 single base substitution G A intron_variant SKCA-BR 17 56014970 56014970 insertion of <=200bp - CA intron_variant SKCA-BR 17 56016321 56016324 deletion of <=200bp CTTT - intron_variant SKCA-BR 17 56018609 56018609 single base substitution C T intron_variant SKCA-BR 17 56020887 56020887 single base substitution C T intron_variant SKCA-BR 17 56021571 56021571 insertion of <=200bp - AT intron_variant SKCA-BR 17 56023048 56023048 single base substitution A G intron_variant SKCA-BR 17 56023849 56023849 single base substitution A G intron_variant SKCA-BR 17 56026867 56026867 single base substitution A C intron_variant SKCA-BR 17 56027838 56027838 insertion of <=200bp - AT intron_variant SKCA-BR 17 56032079 56032079 single base substitution T C intron_variant SKCA-BR 17 56032580 56032580 single base substitution T G intron_variant SKCA-BR 17 56032886 56032886 single base substitution C T upstream_gene_variant SKCA-BR 17 56034925 56034925 single base substitution C T upstream_gene_variant SKCA-BR 17 56035357 56035357 single base substitution C T upstream_gene_variant SKCA-BR 17 56035741 56035760 deletion of <=200bp ATATATATATATATTTTTTT - upstream_gene_variant SKCA-BR 17 56035751 56035754 deletion of <=200bp ATAT - upstream_gene_variant SKCA-BR 17 56035757 56035757 single base substitution T A upstream_gene_variant SKCA-BR 17 56035759 56035759 single base substitution T A upstream_gene_variant SKCA-BR 17 56035761 56035761 single base substitution T A upstream_gene_variant SKCA-BR 17 56035763 56035763 single base substitution T A upstream_gene_variant SKCA-BR 17 56035765 56035765 single base substitution T A upstream_gene_variant SKCM-US 17 55943871 55943871 single base substitution G A exon_variant SKCM-US 17 55943871 55943871 single base substitution G A synonymous_variant P239P 717C>T SKCM-US 17 55943871 55943871 single base substitution G A synonymous_variant P31P 93C>T SKCM-US 17 55943871 55943871 single base substitution G A synonymous_variant P376P 1128C>T SKCM-US 17 55943871 55943871 single base substitution G A synonymous_variant P42P 126C>T SKCM-US 17 55950091 55950091 single base substitution G A downstream_gene_variant SKCM-US 17 55950091 55950091 single base substitution G A synonymous_variant F102F 306C>T SKCM-US 17 55950091 55950091 single base substitution G A synonymous_variant F239F 717C>T SKCM-US 17 55950091 55950091 single base substitution G A upstream_gene_variant SKCM-US 17 55956975 55956975 single base substitution G A missense_variant P104L 311C>T SKCM-US 17 55956975 55956975 single base substitution G A missense_variant P154L 461C>T SKCM-US 17 55956975 55956975 single base substitution G A missense_variant P17L 50C>T SKCM-US 17 55956990 55956990 single base substitution G A missense_variant P12L 35C>T SKCM-US 17 55956990 55956990 single base substitution G A missense_variant P149L 446C>T SKCM-US 17 55956990 55956990 single base substitution G A missense_variant P99L 296C>T SKCM-US 17 55962736 55962736 single base substitution C T intron_variant SKCM-US 17 55962736 55962736 single base substitution C T missense_variant D14N 40G>A SKCM-US 17 55962736 55962736 single base substitution C T missense_variant D64N 190G>A SKCM-US 17 55962751 55962751 single base substitution G A intron_variant SKCM-US 17 55962751 55962751 single base substitution G A missense_variant P59S 175C>T SKCM-US 17 55962751 55962751 single base substitution G A missense_variant P9S 25C>T SKCM-US 17 55962752 55962752 single base substitution G A intron_variant SKCM-US 17 55962752 55962752 single base substitution G A synonymous_variant F58F 174C>T SKCM-US 17 55962752 55962752 single base substitution G A synonymous_variant F8F 24C>T SKCM-US 17 55962836 55962836 single base substitution G A intron_variant SKCM-US 17 55962836 55962836 single base substitution G A synonymous_variant P30P 90C>T STAD-US 17 55945510 55945510 single base substitution C T downstream_gene_variant STAD-US 17 55945510 55945510 single base substitution C T intron_variant STAD-US 17 55945510 55945510 single base substitution C T splice_donor_variant STAD-US 17 55945510 55945510 single base substitution C T upstream_gene_variant STAD-US 17 55962594 55962594 deletion of <=200bp G - frameshift_variant P111 STAD-US 17 55962594 55962594 deletion of <=200bp G - frameshift_variant P61 STAD-US 17 55962594 55962594 deletion of <=200bp G - intron_variant STAD-US 17 55962691 55962691 single base substitution C T intron_variant STAD-US 17 55962691 55962691 single base substitution C T missense_variant A29T 85G>A STAD-US 17 55962691 55962691 single base substitution C T missense_variant A79T 235G>A STAD-US 17 55962835 55962835 deletion of <=200bp G - frameshift_variant Q31 STAD-US 17 55962835 55962835 deletion of <=200bp G - intron_variant STAD-US 17 55962851 55962851 single base substitution T C intron_variant STAD-US 17 55962851 55962851 single base substitution T C synonymous_variant G25G 75A>G THCA-SA 17 55950064 55950064 single base substitution C T downstream_gene_variant THCA-SA 17 55950064 55950064 single base substitution C T synonymous_variant E111E 333G>A THCA-SA 17 55950064 55950064 single base substitution C T synonymous_variant E248E 744G>A THCA-SA 17 55950064 55950064 single base substitution C T upstream_gene_variant THCA-SA 17 55951037 55951037 single base substitution C T missense_variant R119H 356G>A THCA-SA 17 55951037 55951037 single base substitution C T missense_variant R169H 506G>A THCA-SA 17 55951037 55951037 single base substitution C T missense_variant R32H 95G>A THCA-SA 17 55951037 55951037 single base substitution C T upstream_gene_variant THCA-US 17 55962647 55962647 deletion of <=200bp G - frameshift_variant G43 THCA-US 17 55962647 55962647 deletion of <=200bp G - frameshift_variant G93 THCA-US 17 55962647 55962647 deletion of <=200bp G - intron_variant UCEC-US 17 55946494 55946494 single base substitution T C downstream_gene_variant UCEC-US 17 55946494 55946494 single base substitution T C exon_variant UCEC-US 17 55946494 55946494 single base substitution T C intron_variant UCEC-US 17 55946494 55946494 single base substitution T C missense_variant H173R 518A>G UCEC-US 17 55946494 55946494 single base substitution T C missense_variant H310R 929A>G UCEC-US 17 55946494 55946494 single base substitution T C upstream_gene_variant UCEC-US 17 55950132 55950132 single base substitution G A downstream_gene_variant UCEC-US 17 55950132 55950132 single base substitution G A missense_variant R226C 676C>T UCEC-US 17 55950132 55950132 single base substitution G A missense_variant R89C 265C>T UCEC-US 17 55950132 55950132 single base substitution G A upstream_gene_variant UCEC-US 17 55962643 55962643 single base substitution T C intron_variant UCEC-US 17 55962643 55962643 single base substitution T C missense_variant S45G 133A>G UCEC-US 17 55962643 55962643 single base substitution T C missense_variant S95G 283A>G UCEC-US 17 55962727 55962727 single base substitution C T intron_variant UCEC-US 17 55962727 55962727 single base substitution C T missense_variant E17K 49G>A UCEC-US 17 55962727 55962727 single base substitution C T missense_variant E67K 199G>A UCEC-US 17 55962774 55962774 single base substitution A G intron_variant UCEC-US 17 55962774 55962774 single base substitution A G missense_variant M51T 152T>C UCEC-US 17 55962774 55962774 single base substitution A G start_lost M1T 2T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT8 COSM4634232 c.182T>C p.M61T Substitution - Missense 17:57885383-57885383 - 229 COSM4426248 c.879C>T p.D293D Substitution - coding silent 17:57869183-57869183 - TCGA-AP-A051-01 COSM981704 c.199G>A p.E67K Substitution - Missense 17:57885366-57885366 - LIM2405 COSM4613454 c.44delG p.G15fs*73 Deletion - Frameshift 17:57885521-57885521 - T3503 COSM4675553 c.180C>T p.N60N Substitution - coding silent 17:57885385-57885385 - 8051054 COSM1177716 c.751C>T p.R251W Substitution - Missense 17:57872696-57872696 - TCGA-WS-AB45-01 COSM5190260 c.163A>C p.K55Q Substitution - Missense 17:57885402-57885402 - TARGET-30-PARSRJ COSM1284361 c.288C>T p.G96G Substitution - coding silent 17:57885277-57885277 - 587342 COSM1202677 c.274G>A p.G92S Substitution - Missense 17:57885291-57885291 - TCGA-AB-2898-03 COSM1318469 c.333G>A p.P111P Substitution - coding silent 17:57885232-57885232 - BN23T COSM1610518 c.785-10C>G p.? Unknown 17:57871379-57871379 - cSCCP7 COSM140144 c.803C>T p.S268F Substitution - Missense 17:57871351-57871351 - T578 COSM4675554 c.127C>T p.R43C Substitution - Missense 17:57885438-57885438 - TCGA-CK-6746-01 COSM1384634 c.570C>A p.P190P Substitution - coding silent 17:57873612-57873612 - TCGA-EE-A2MR-06 COSM3519952 c.446C>T p.P149L Substitution - Missense 17:57879629-57879629 - PTC-77C COSM4130433 c.45T>G p.G15G Substitution - coding silent 17:57885520-57885520 - PT52 COSM5940673 c.785-4C>T p.? Unknown 17:57871373-57871373 - TCGA-AY-4070-01 COSM5135813 c.337-1003_354del1021 p.? Unknown 17:57879721-57880741 - TCGA-EE-A3AC-06 COSM1718545 c.717C>T p.F239F Substitution - coding silent 17:57872730-57872730 - CSCC-29-T COSM4487168 c.314C>T p.S105L Substitution - Missense 17:57885251-57885251 - T3080 COSM4675550 c.332delC p.P111fs*136 Deletion - Frameshift 17:57885233-57885233 - TCGA-22-4607-01 COSM706742 c.485G>C p.G162A Substitution - Missense 17:57873697-57873697 - TCGA-CK-4951-01 COSM5149479 c.523C>T p.P175S Substitution - Missense 17:57873659-57873659 - Pat_45_B COSM5853065 c.1126C>T p.P376S Substitution - Missense 17:57866512-57866512 - TCGA-CK-4951-01 COSM5149478 c.849C>T p.G283G Substitution - coding silent 17:57871305-57871305 - T263 COSM4675551 c.257A>G p.Q86R Substitution - Missense 17:57885308-57885308 - PTC-7C COSM4130432 c.506G>A p.R169H Substitution - Missense 17:57873676-57873676 - KM12 COSM4612759 c.91delC p.Q31fs*57 Deletion - Frameshift 17:57885474-57885474 - TCGA-BT-A2LB-01 COSM3795852 c.765C>T p.F255F Substitution - coding silent 17:57872682-57872682 - TCGA-CM-5348-01 COSM1384631 c.1046C>T p.A349V Substitution - Missense 17:57867404-57867404 - TCGA-G4-6306-01 COSM1384632 c.958_961delTTTG p.F320fs*12 Deletion - Frameshift 17:57868223-57868226 - PT46 COSM5929719 c.854C>T p.S285F Substitution - Missense 17:57871300-57871300 - 2217531 COSM4130433 c.45T>G p.G15G Substitution - coding silent 17:57885520-57885520 - T3724 COSM4675552 c.187T>C p.Y63H Substitution - Missense 17:57885378-57885378 - TCGA-FW-A3R5-06 COSM3890030 c.174C>T p.F58F Substitution - coding silent 17:57885391-57885391 - Au5 COSM5605664 c.558C>T p.L186L Substitution - coding silent 17:57873624-57873624 - 2492729 COSM5729732 c.41G>A p.G14E Substitution - Missense 17:57885524-57885524 - B34-Tumor COSM1750185 c.961G>A p.E321K Substitution - Missense 17:57868223-57868223 - CSCC-20-T COSM4562967 c.950G>A p.R317K Substitution - Missense 17:57868234-57868234 - BN23 COSM1610518 c.785-10C>G p.? Unknown 17:57871379-57871379 - 1_RESISTANT COSM1718544 c.859C>T p.P287S Substitution - Missense 17:57871295-57871295 - TCGA-EE-A3JI-06 COSM1718545 c.717C>T p.F239F Substitution - coding silent 17:57872730-57872730 - ESCC_BICR_018T COSM5429067 c.244G>T p.D82Y Substitution - Missense 17:57885321-57885321 - RK260_C01 COSM4944253 c.214G>A p.A72T Substitution - Missense 17:57885351-57885351 - TCGA-HU-A4GH-01 COSM4068062 c.75A>G p.G25G Substitution - coding silent 17:57885490-57885490 - BCM501T COSM4951967 c.244G>C p.D82H Substitution - Missense 17:57885321-57885321 - TCGA-DD-A11C-01 COSM4925697 c.947G>C p.R316P Substitution - Missense 17:57868237-57868237 - T5 COSM5619373 c.744G>A p.E248E Substitution - coding silent 17:57872703-57872703 - TCGA-B5-A11E-01 COSM981698 c.929A>G p.H310R Substitution - Missense 17:57869133-57869133 - TCGA-AX-A0J1-01 COSM981700 c.676C>T p.R226C Substitution - Missense 17:57872771-57872771 - 1_PRE-TREATMENT COSM1718546 c.291_294delCGTC p.V98fs*148 Deletion - Frameshift 17:57885271-57885274 - H1155 COSM1195916 c.821G>A p.S274N Substitution - Missense 17:57871333-57871333 - PCSI_0006_Pa_C COSM1750185 c.961G>A p.E321K Substitution - Missense 17:57868223-57868223 - BCM501T COSM4951967 c.244G>C p.D82H Substitution - Missense 17:57885321-57885321 - TCGA-CJ-5671-01 COSM473083 c.796T>C p.Y266H Substitution - Missense 17:57871358-57871358 - 1_RESISTANT COSM1718546 c.291_294delCGTC p.V98fs*148 Deletion - Frameshift 17:57885271-57885274 - TCGA-B7-5816-01 COSM4068061 c.235G>A p.A79T Substitution - Missense 17:57885330-57885330 - B34 COSM1750185 c.961G>A p.E321K Substitution - Missense 17:57868223-57868223 - STC246 COSM5055626 c.880G>A p.A294T Substitution - Missense 17:57869182-57869182 - 2293782 COSM4608677 c.398C>A p.P133Q Substitution - Missense 17:57879677-57879677 - TCGA-A6-5665-01 COSM1384633 c.840C>T p.N280N Substitution - coding silent 17:57871314-57871314 - TCGA-DI-A0WH-01 COSM981702 c.283A>G p.S95G Substitution - Missense 17:57885282-57885282 - MSK-PCa5_organoid COSM5423804 c.582C>A p.D194E Substitution - Missense 17:57873600-57873600 - 12T COSM109323 c.1101C>T p.D367D Substitution - coding silent 17:57866537-57866537 - TCGA-BG-A0MQ-01 COSM981706 c.152T>C p.M51T Substitution - Missense 17:57885413-57885413 - TCGA-RP-A693-06 COSM4895537 c.90C>T p.P30P Substitution - coding silent 17:57885475-57885475 - TCGA-AF-6136-01 COSM1563750 c.1012A>T p.K338* Substitution - Nonsense 17:57868172-57868172 - CSCC-5-T COSM4563919 c.996G>A p.M332I Substitution - Missense 17:57868188-57868188 - TCGA-AA-3869-01 COSM296219 c.636A>C p.P212P Substitution - coding silent 17:57872811-57872811 - PCSI_0006_Pa_P COSM1750185 c.961G>A p.E321K Substitution - Missense 17:57868223-57868223 - PT37 COSM5921135 c.1010G>A p.R337K Substitution - Missense 17:57868174-57868174 - TCGA-AZ-4681-01 COSM1384635 c.246C>A p.D82E Substitution - Missense 17:57885319-57885319 - 1_PRE-TREATMENT COSM1718545 c.717C>T p.F239F Substitution - coding silent 17:57872730-57872730 - 1_RESISTANT COSM1718545 c.717C>T p.F239F Substitution - coding silent 17:57872730-57872730 - TCGA-EE-A3AF-06 COSM3519951 c.461C>T p.P154L Substitution - Missense 17:57879614-57879614 - TCGA-AO-A0JB-01 COSM436970 c.281G>T p.S94I Substitution - Missense 17:57885284-57885284 - ESCC_BICR_020T COSM5429186 c.699C>T p.D233D Substitution - coding silent 17:57872748-57872748 - PD7217a COSM5793005 c.771C>G p.L257L Substitution - coding silent 17:57872676-57872676 - TCGA-43-3920-01 COSM706743 c.787C>A p.R263R Substitution - coding silent 17:57871367-57871367 - 1_PRE-TREATMENT COSM1718544 c.859C>T p.P287S Substitution - Missense 17:57871295-57871295 - 12T COSM108632 c.1102T>C p.F368L Substitution - Missense 17:57866536-57866536 - TCGA-EE-A182-06 COSM3519954 c.175C>T p.P59S Substitution - Missense 17:57885390-57885390 - TCGA-FG-6688-01 COSM3970181 c.896C>T p.S299F Substitution - Missense 17:57869166-57869166 - sysucc-863T COSM5251429 c.545C>T p.P182L Substitution - Missense 17:57873637-57873637 - BD114T COSM5504344 c.829G>A p.A277T Substitution - Missense 17:57871325-57871325 - ESCC_18 COSM5626077 c.788G>T p.R263L Substitution - Missense 17:57871366-57871366 - TCGA-A2-A0T5-01 COSM3820051 c.1133T>G p.V378G Substitution - Missense 17:57866505-57866505 - 94 COSM5015510 c.1098A>C p.E366D Substitution - Missense 17:57866540-57866540 - LUAD-F00018 COSM339023 c.227C>T p.A76V Substitution - Missense 17:57885338-57885338 - 417 COSM4431654 c.308C>G p.S103C Substitution - Missense 17:57885257-57885257 - TCGA-BR-8360-01 COSM4068060 c.1034+1G>A p.? Unknown 17:57868149-57868149 - TCGA-EE-A180-06 COSM3519950 c.1128C>T p.P376P Substitution - coding silent 17:57866510-57866510 - PTC-50C COSM4130433 c.45T>G p.G15G Substitution - coding silent 17:57885520-57885520 - TCGA-EE-A2MT-06 COSM3519953 c.190G>A p.D64N Substitution - Missense 17:57885375-57885375 - T75 COSM1177716 c.751C>T p.R251W Substitution - Missense 17:57872696-57872696 - NB2181 COSM5703017 c.473C>A p.A158E Substitution - Missense 17:57873709-57873709 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.46669;Hs.46679 17q23.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1-7184T>G 17 55970109 PIA A C IntronicSNV . c.1-8540T>G 17 55971465 CLL A G IntronicSNV . c.1-60682T>C 17 56023607 CLL A G Missense p.M51T c.152T>C 17 55962774 UCEC A G Missense p.Y266H c.796T>C 17 55948719 RCCC A G Synonymous p.P120P c.360T>C 17 55957076 HNSC C A Missense p.G97V c.290G>T 17 55962636 STAD C A Missense p.R43L c.128G>T 17 55962798 LUAD C A Missense p.S94I c.281G>T 17 55962645 BRCA C G Missense p.E115Q c.343G>C 17 55957093 HNSC C G Missense p.G162A c.485G>C 17 55951058 LUSC C T IntronicSNV . c.1-13076G>A 17 55976001 CLL C T Missense p.A79T c.235G>A 17 55962691 STAD C T Missense p.D64N c.190G>A 17 55962736 CM C T Synonymous p.P111P c.333G>A 17 55962593 AML G A Missense p.P154L c.461C>T 17 55956975 CM G A Missense p.P182L c.545C>T 17 55950998 LUAD G A Missense p.P59S c.175C>T 17 55962751 CM G A Missense p.S299F c.896C>T 17 55946527 LGG G A Synonymous p.F239F c.717C>T 17 55950091 CM G A Synonymous p.F255F c.765C>T 17 55950043 BLCA G A Synonymous p.G96G c.288C>T 17 55962638 NB G A Synonymous p.L186L c.558C>T 17 55950985 CM G A Synonymous p.P376P c.1128C>T 17 55943871 CM G A Synonymous p.S95S c.285C>T 17 55962641 AML G - Frameshift p.S94Afs*153 c.279delC 17 55962647 THCA G T Synonymous p.R263R c.787C>A 17 55948728 LUSC T C Missense p.S95G c.283A>G 17 55962643 UCEC T G Synonymous p.P212P c.636A>C 17 55950172 COREAD