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 ACC 17 77807925 77807925 + Missense_Mutation SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr17:77807925C>A c.1516G>T c.(1516-1518)Gcg>Tcg p.A506S ACC 17 77808133 77808133 + Silent SNP G G A TCGA-OR-A5L5-01A-11D-A29I-10 TCGA-OR-A5L5-10A-01D-A29L-10 g.chr17:77808133G>A c.1308C>T c.(1306-1308)ccC>ccT p.P436P BLCA 17 77807775 77807775 + Missense_Mutation SNP C C T TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr17:77807775C>T c.1666G>A c.(1666-1668)Gag>Aag p.E556K BLCA 17 77807779 77807779 + Missense_Mutation SNP G G T TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr17:77807779G>T c.1662C>A c.(1660-1662)ttC>ttA p.F554L BLCA 17 77807809 77807809 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr17:77807809G>C c.1632C>G c.(1630-1632)gaC>gaG p.D544E BLCA 17 77808235 77808235 + Silent SNP G G A TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr17:77808235G>A c.1206C>T c.(1204-1206)gtC>gtT p.V402V BLCA 17 77808541 77808541 + Silent SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr17:77808541G>A c.900C>T c.(898-900)gaC>gaT p.D300D BLCA 17 77808556 77808556 + Missense_Mutation SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:77808556C>G c.885G>C c.(883-885)aaG>aaC p.K295N BLCA 17 77808594 77808594 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 g.chr17:77808594C>A c.847G>T c.(847-849)Gag>Tag p.E283* BLCA 17 77808682 77808682 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr17:77808682G>C c.759C>G c.(757-759)gtC>gtG p.V253V BLCA 17 77808858 77808858 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr17:77808858G>C c.583C>G c.(583-585)Ccc>Gcc p.P195A BLCA 17 77808877 77808877 + Silent SNP C C A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr17:77808877C>A c.564G>T c.(562-564)ctG>ctT p.L188L BLCA 17 77809510 77809510 + Splice_Site SNP C C T TCGA-BL-A13I-01A-11D-A13W-08 TCGA-BL-A13I-11A-11D-A13W-08 g.chr17:77809510C>T c.181G>A c.(181-183)Gaa>Aaa p.E61K BLCA 17 77811653 77811653 + Silent SNP C C A TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr17:77811653C>A c.162G>T c.(160-162)ctG>ctT p.L54L BRCA 17 77808750 77808751 + Frame_Shift_Ins INS - - G TCGA-A7-A0CD-01A-11W-A019-09 TCGA-A7-A0CD-10A-01W-A021-09 g.chr17:77808750_77808751insG c.690_691insC c.(688-693)cccaacfs p.N231fs BRCA 17 77808811 77808811 + Silent SNP C C T TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr17:77808811C>T c.630G>A c.(628-630)gcG>gcA p.A210A BRCA 17 77808911 77808911 + Missense_Mutation SNP T T C TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr17:77808911T>C c.530A>G c.(529-531)cAc>cGc p.H177R BRCA 17 77809493 77809493 + Silent SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr17:77809493C>A c.198G>T c.(196-198)ctG>ctT p.L66L CESC 17 77807985 77807985 + Missense_Mutation SNP C C T TCGA-DS-A0VN-01A-21D-A10S-08 TCGA-DS-A0VN-10A-01D-A10S-08 g.chr17:77807985C>T c.1456G>A c.(1456-1458)Gag>Aag p.E486K CESC 17 77808441 77808441 + Missense_Mutation SNP C C T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chr17:77808441C>T c.1000G>A c.(1000-1002)Ggg>Agg p.G334R COAD 17 77808541 77808541 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:77808541G>A c.900C>T c.(898-900)gaC>gaT p.D300D COAD 17 77808625 77808625 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:77808625G>A c.816C>T c.(814-816)aaC>aaT p.N272N COAD 17 77808750 77808751 + Frame_Shift_Ins INS - - G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:77808750_77808751insG c.690_691insC c.(688-693)cccaacfs p.N231fs COAD 17 77809471 77809471 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:77809471G>A c.220C>T c.(220-222)Ccg>Tcg p.P74S COADREAD 17 77808541 77808541 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr17:77808541G>A c.900C>T c.(898-900)gaC>gaT p.D300D COADREAD 17 77808625 77808625 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr17:77808625G>A c.816C>T c.(814-816)aaC>aaT p.N272N COADREAD 17 77808750 77808751 + Frame_Shift_Ins INS - - G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:77808750_77808751insG c.690_691insC c.(688-693)cccaacfs p.N231fs COADREAD 17 77808886 77808886 + Silent SNP G G A TCGA-AG-A01Y-01A-41W-A096-10 TCGA-AG-A01Y-11A-11W-A096-10 g.chr17:77808886G>A c.555C>T c.(553-555)tgC>tgT p.C185C COADREAD 17 77809471 77809471 + Missense_Mutation SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:77809471G>A c.220C>T c.(220-222)Ccg>Tcg p.P74S ESCA 17 77808433 77808433 + Silent SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr17:77808433G>A c.1008C>T c.(1006-1008)agC>agT p.S336S GBMLGG 17 77808427 77808427 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808427C>T c.1014G>A c.(1012-1014)ccG>ccA p.P338P GBMLGG 17 77808500 77808500 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808500G>A c.941C>T c.(940-942)gCg>gTg p.A314V GBMLGG 17 77808613 77808613 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808613C>T c.828G>A c.(826-828)gcG>gcA p.A276A GBMLGG 17 77808831 77808831 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808831C>T c.610G>A c.(610-612)Gcc>Acc p.A204T GBMLGG 17 77808854 77808854 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808854T>C c.587A>G c.(586-588)gAc>gGc p.D196G GBMLGG 17 77808940 77808940 + Missense_Mutation SNP T T A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chr17:77808940T>A c.501A>T c.(499-501)aaA>aaT p.K167N GBMLGG 17 77809109 77809109 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77809109G>A c.332C>T c.(331-333)gCg>gTg p.A111V HNSC 17 77807811 77807811 + Missense_Mutation SNP C C T TCGA-CV-6436-01A-11D-1683-08 TCGA-CV-6436-11A-01D-1683-08 g.chr17:77807811C>T c.1630G>A c.(1630-1632)Gac>Aac p.D544N HNSC 17 77808429 77808429 + Missense_Mutation SNP G G A TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr17:77808429G>A c.1012C>T c.(1012-1014)Ccg>Tcg p.P338S HNSC 17 77808470 77808470 + Missense_Mutation SNP G G A TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr17:77808470G>A c.971C>T c.(970-972)cCg>cTg p.P324L KIPAN 17 77807886 77807886 + Missense_Mutation SNP G G C TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr17:77807886G>C c.1555C>G c.(1555-1557)Cca>Gca p.P519A KIPAN 17 77807917 77807917 + Silent SNP T T C TCGA-MH-A855-01A-11D-A34Z-10 TCGA-MH-A855-10A-01D-A34Z-10 g.chr17:77807917T>C c.1524A>G c.(1522-1524)gcA>gcG p.A508A KIRP 17 77807886 77807886 + Missense_Mutation SNP G G C TCGA-IA-A40Y-01A-11D-A25F-10 TCGA-IA-A40Y-10A-01D-A25F-10 g.chr17:77807886G>C c.1555C>G c.(1555-1557)Cca>Gca p.P519A KIRP 17 77807917 77807917 + Silent SNP T T C TCGA-MH-A855-01A-11D-A34Z-10 TCGA-MH-A855-10A-01D-A34Z-10 g.chr17:77807917T>C c.1524A>G c.(1522-1524)gcA>gcG p.A508A LGG 17 77808427 77808427 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808427C>T c.1014G>A c.(1012-1014)ccG>ccA p.P338P LGG 17 77808500 77808500 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808500G>A c.941C>T c.(940-942)gCg>gTg p.A314V LGG 17 77808613 77808613 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808613C>T c.828G>A c.(826-828)gcG>gcA p.A276A LGG 17 77808831 77808831 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808831C>T c.610G>A c.(610-612)Gcc>Acc p.A204T LGG 17 77808854 77808854 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77808854T>C c.587A>G c.(586-588)gAc>gGc p.D196G LGG 17 77808940 77808940 + Missense_Mutation SNP T T A TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chr17:77808940T>A c.501A>T c.(499-501)aaA>aaT p.K167N LGG 17 77809109 77809109 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:77809109G>A c.332C>T c.(331-333)gCg>gTg p.A111V LIHC 17 77808306 77808306 + Missense_Mutation SNP G G A TCGA-DD-AACG-01A-11D-A40R-10 TCGA-DD-AACG-10A-01D-A40U-10 g.chr17:77808306G>A c.1135C>T c.(1135-1137)Ccg>Tcg p.P379S LIHC 17 77808471 77808471 + Missense_Mutation SNP G G A TCGA-G3-A7M9-01A-23D-A34Z-10 TCGA-G3-A7M9-10A-01D-A34Z-10 g.chr17:77808471G>A c.970C>T c.(970-972)Ccg>Tcg p.P324S LIHC 17 77808750 77808751 + Frame_Shift_Ins INS - - G TCGA-G3-A7M6-01A-11D-A33Q-10 TCGA-G3-A7M6-10A-01D-A33Q-10 g.chr17:77808750_77808751insG c.690_691insC c.(688-693)cccaacfs p.N231fs LIHC 17 77808830 77808831 + Frame_Shift_Ins INS - - C TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:77808830_77808831insC c.610_611insG c.(610-612)gccfs p.A204fs LIHC 17 77808906 77808906 + Nonsense_Mutation SNP C C A TCGA-5C-A9VH-01A-11D-A36X-10 TCGA-5C-A9VH-10A-01D-A370-10 g.chr17:77808906C>A c.535G>T c.(535-537)Gag>Tag p.E179* LIHC 17 77812826 77812826 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr17:77812826T>C c.97A>G c.(97-99)Aga>Gga p.R33G LUAD 17 77807808 77807808 + Missense_Mutation SNP C C T TCGA-50-6591-01A-11D-1753-08 TCGA-50-6591-11A-01D-1753-08 g.chr17:77807808C>T c.1633G>A c.(1633-1635)Gtc>Atc p.V545I LUAD 17 77807854 77807854 + Silent SNP C C G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr17:77807854C>G c.1587G>C c.(1585-1587)tcG>tcC p.S529S LUAD 17 77808128 77808128 + Missense_Mutation SNP C C A TCGA-55-8510-01A-11D-2393-08 TCGA-55-8510-10A-01D-2393-08 g.chr17:77808128C>A c.1313G>T c.(1312-1314)tGc>tTc p.C438F LUAD 17 77808163 77808164 + Frame_Shift_Ins INS - - T TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr17:77808163_77808164insT c.1277_1278insA c.(1276-1278)aagfs p.K426fs LUAD 17 77808278 77808278 + Missense_Mutation SNP G G C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr17:77808278G>C c.1163C>G c.(1162-1164)cCc>cGc p.P388R LUAD 17 77808392 77808392 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr17:77808392G>A c.1049C>T c.(1048-1050)cCg>cTg p.P350L LUAD 17 77808599 77808599 + Missense_Mutation SNP G G C TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr17:77808599G>C c.842C>G c.(841-843)tCc>tGc p.S281C LUAD 17 77808643 77808643 + Missense_Mutation SNP C C T TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr17:77808643C>T c.798G>A c.(796-798)atG>atA p.M266I LUAD 17 77808994 77808994 + Missense_Mutation SNP C C G TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr17:77808994C>G c.447G>C c.(445-447)aaG>aaC p.K149N LUSC 17 77808067 77808067 + Silent SNP C C G TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr17:77808067C>G c.1374G>C c.(1372-1374)ccG>ccC p.P458P PAAD 17 77808649 77808649 + Silent SNP G G T TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr17:77808649G>T c.792C>A c.(790-792)atC>atA p.I264I PRAD 17 77807801 77807801 + Missense_Mutation SNP G G A TCGA-KC-A4BL-01A-31D-A257-08 TCGA-KC-A4BL-10A-01D-A25A-08 g.chr17:77807801G>A c.1640C>T c.(1639-1641)gCg>gTg p.A547V PRAD 17 77808244 77808244 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:77808244G>A c.1197C>T c.(1195-1197)caC>caT p.H399H PRAD 17 77808481 77808483 + In_Frame_Del DEL CTT CTT - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:77808481_77808483delCTT c.958_960delAAG c.(958-960)aagdel p.K320del PRAD 17 77809045 77809045 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:77809045C>T c.396G>A c.(394-396)ccG>ccA p.P132P PRAD 17 77809099 77809099 + Silent SNP C C T TCGA-G9-6329-01A-13D-1961-08 TCGA-G9-6329-10A-01D-1961-08 g.chr17:77809099C>T c.342G>A c.(340-342)aaG>aaA p.K114K READ 17 77808886 77808886 + Silent SNP G G A TCGA-AG-A01Y-01A-41W-A096-10 TCGA-AG-A01Y-11A-11W-A096-10 g.chr17:77808886G>A c.555C>T c.(553-555)tgC>tgT p.C185C SARC 17 77807835 77807835 + Missense_Mutation SNP A A G TCGA-WK-A8XY-01A-11D-A37C-09 TCGA-WK-A8XY-10A-01D-A37F-09 g.chr17:77807835A>G c.1606T>C c.(1606-1608)Ttc>Ctc p.F536L SKCM 17 77808020 77808020 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:77808020T>C c.1421A>G c.(1420-1422)gAc>gGc p.D474G SKCM 17 77808070 77808070 + Silent SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr17:77808070G>A c.1371C>T c.(1369-1371)ctC>ctT p.L457L SKCM 17 77808568 77808568 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr17:77808568G>A c.873C>T c.(871-873)tcC>tcT p.S291S SKCM 17 77808599 77808599 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr17:77808599G>A c.842C>T c.(841-843)tCc>tTc p.S281F SKCM 17 77808752 77808752 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:77808752G>A c.689C>T c.(688-690)cCc>cTc p.P230L SKCM 17 77809476 77809476 + Missense_Mutation SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr17:77809476C>T c.215G>A c.(214-216)aGa>aAa p.R72K SKCM 17 77809477 77809477 + Silent SNP T T G TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr17:77809477T>G c.214A>C c.(214-216)Aga>Cga p.R72R SKCM 17 77811688 77811688 + Nonsense_Mutation SNP C C A TCGA-GN-A268-06A-11D-A196-08 TCGA-GN-A268-10A-01D-A198-08 g.chr17:77811688C>A c.127G>T c.(127-129)Gaa>Taa p.E43*

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 77808533 77808533 single base substitution T G downstream_gene_variant BLCA-CN 17 77808533 77808533 single base substitution T G missense_variant H303P 908A>C BLCA-US 17 77808594 77808594 single base substitution C A downstream_gene_variant BLCA-US 17 77808594 77808594 single base substitution C A stop_gained E283* 847G>T BLCA-US 17 77808682 77808682 single base substitution G C downstream_gene_variant BLCA-US 17 77808682 77808682 single base substitution G C synonymous_variant V253V 759C>G BLCA-US 17 77808858 77808858 single base substitution G C 3_prime_UTR_variant BLCA-US 17 77808858 77808858 single base substitution G C downstream_gene_variant BLCA-US 17 77808858 77808858 single base substitution G C missense_variant P195A 583C>G BLCA-US 17 77809510 77809510 single base substitution C T downstream_gene_variant BLCA-US 17 77809510 77809510 single base substitution C T intron_variant BLCA-US 17 77809510 77809510 single base substitution C T missense_variant E16K 46G>A BLCA-US 17 77809510 77809510 single base substitution C T missense_variant E61K 181G>A BOCA-FR 17 77807745 77807745 single base substitution C G 3_prime_UTR_variant BOCA-FR 17 77807745 77807745 single base substitution C G downstream_gene_variant BRCA-EU 17 77802814 77802814 single base substitution G T downstream_gene_variant BRCA-EU 17 77802950 77802950 single base substitution G A downstream_gene_variant BRCA-EU 17 77804000 77804000 single base substitution G C downstream_gene_variant BRCA-EU 17 77804544 77804544 single base substitution G A downstream_gene_variant BRCA-EU 17 77804963 77804963 single base substitution G C downstream_gene_variant BRCA-EU 17 77806466 77806466 single base substitution C G downstream_gene_variant BRCA-EU 17 77807054 77807054 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 77807054 77807054 single base substitution C A downstream_gene_variant BRCA-EU 17 77807801 77807801 single base substitution G C downstream_gene_variant BRCA-EU 17 77807801 77807801 single base substitution G C missense_variant A547G 1640C>G BRCA-EU 17 77807955 77807955 single base substitution C G downstream_gene_variant BRCA-EU 17 77807955 77807955 single base substitution C G missense_variant E496Q 1486G>C BRCA-EU 17 77808673 77808673 single base substitution C G downstream_gene_variant BRCA-EU 17 77808673 77808673 single base substitution C G missense_variant K256N 768G>C BRCA-EU 17 77808737 77808737 single base substitution G A downstream_gene_variant BRCA-EU 17 77808737 77808737 single base substitution G A missense_variant P235L 704C>T BRCA-EU 17 77809118 77809118 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 77809118 77809118 single base substitution T G downstream_gene_variant BRCA-EU 17 77809118 77809118 single base substitution T G missense_variant D108A 323A>C BRCA-EU 17 77809161 77809161 single base substitution T A 3_prime_UTR_variant BRCA-EU 17 77809161 77809161 single base substitution T A downstream_gene_variant BRCA-EU 17 77809161 77809161 single base substitution T A missense_variant T94S 280A>T BRCA-EU 17 77809161 77809161 single base substitution T A stop_lost *90C 270A>T BRCA-EU 17 77809821 77809821 single base substitution C G downstream_gene_variant BRCA-EU 17 77809821 77809821 single base substitution C G intron_variant BRCA-EU 17 77811208 77811208 single base substitution C T downstream_gene_variant BRCA-EU 17 77811208 77811208 single base substitution C T intron_variant BRCA-EU 17 77811225 77811225 single base substitution C G downstream_gene_variant BRCA-EU 17 77811225 77811225 single base substitution C G intron_variant BRCA-EU 17 77811239 77811239 single base substitution G C downstream_gene_variant BRCA-EU 17 77811239 77811239 single base substitution G C intron_variant BRCA-EU 17 77812879 77812879 single base substitution C T intron_variant BRCA-EU 17 77812879 77812879 single base substitution C T upstream_gene_variant BRCA-EU 17 77813726 77813726 single base substitution C T upstream_gene_variant BRCA-EU 17 77814209 77814209 single base substitution C T upstream_gene_variant BRCA-EU 17 77814500 77814500 single base substitution G A upstream_gene_variant BRCA-EU 17 77814684 77814684 single base substitution T C upstream_gene_variant BRCA-EU 17 77816964 77816964 deletion of <=200bp C - upstream_gene_variant BRCA-EU 17 77817003 77817003 single base substitution C T upstream_gene_variant BRCA-EU 17 77817448 77817450 deletion of <=200bp CCG - upstream_gene_variant BRCA-FR 17 77807054 77807054 single base substitution C A 3_prime_UTR_variant BRCA-FR 17 77807054 77807054 single base substitution C A downstream_gene_variant BRCA-FR 17 77813726 77813726 single base substitution C T upstream_gene_variant BRCA-FR 17 77814500 77814500 single base substitution G A upstream_gene_variant BRCA-UK 17 77804949 77804949 single base substitution C A downstream_gene_variant BRCA-UK 17 77810889 77810889 single base substitution G A downstream_gene_variant BRCA-UK 17 77810889 77810889 single base substitution G A intron_variant BRCA-UK 17 77817586 77817586 single base substitution C A upstream_gene_variant BRCA-UK 17 77817627 77817627 single base substitution C G upstream_gene_variant BRCA-US 17 77808750 77808750 insertion of <=200bp - G downstream_gene_variant BRCA-US 17 77808750 77808750 insertion of <=200bp - G frameshift_variant N231T? BRCA-US 17 77808811 77808811 single base substitution C T downstream_gene_variant BRCA-US 17 77808811 77808811 single base substitution C T synonymous_variant A210A 630G>A BRCA-US 17 77808911 77808911 single base substitution T C 3_prime_UTR_variant BRCA-US 17 77808911 77808911 single base substitution T C downstream_gene_variant BRCA-US 17 77808911 77808911 single base substitution T C missense_variant H177R 530A>G BRCA-US 17 77809493 77809493 single base substitution C A downstream_gene_variant BRCA-US 17 77809493 77809493 single base substitution C A stop_lost *61L 182G>T BRCA-US 17 77809493 77809493 single base substitution C A synonymous_variant L21L 63G>T BRCA-US 17 77809493 77809493 single base substitution C A synonymous_variant L66L 198G>T BRCA-US 17 77809500 77809500 single base substitution T C downstream_gene_variant BRCA-US 17 77809500 77809500 single base substitution T C missense_variant E19G 56A>G BRCA-US 17 77809500 77809500 single base substitution T C missense_variant E64G 191A>G BRCA-US 17 77809500 77809500 single base substitution T C splice_region_variant BTCA-JP 17 77808664 77808669 deletion of <=200bp GTTCTT - downstream_gene_variant BTCA-JP 17 77808664 77808669 deletion of <=200bp GTTCTT - inframe_deletion KN258 BTCA-JP 17 77809367 77809367 deletion of <=200bp C - downstream_gene_variant BTCA-JP 17 77809367 77809367 deletion of <=200bp C - intron_variant CESC-US 17 77807985 77807985 single base substitution C T downstream_gene_variant CESC-US 17 77807985 77807985 single base substitution C T missense_variant E486K 1456G>A CESC-US 17 77808441 77808441 single base substitution C T downstream_gene_variant CESC-US 17 77808441 77808441 single base substitution C T missense_variant G334R 1000G>A COAD-US 17 77807917 77807917 insertion of <=200bp - GCCGCC downstream_gene_variant COAD-US 17 77807917 77807917 insertion of <=200bp - GCCGCC inframe_insertion A508AGG COAD-US 17 77807921 77807921 single base substitution G A downstream_gene_variant COAD-US 17 77807921 77807921 single base substitution G A missense_variant A507V 1520C>T COAD-US 17 77808541 77808541 single base substitution G A downstream_gene_variant COAD-US 17 77808541 77808541 single base substitution G A synonymous_variant D300D 900C>T COAD-US 17 77808625 77808625 single base substitution G A downstream_gene_variant COAD-US 17 77808625 77808625 single base substitution G A synonymous_variant N272N 816C>T COAD-US 17 77808750 77808750 insertion of <=200bp - G downstream_gene_variant COAD-US 17 77808750 77808750 insertion of <=200bp - G frameshift_variant N231T? COAD-US 17 77808751 77808751 deletion of <=200bp G - downstream_gene_variant COAD-US 17 77808751 77808751 deletion of <=200bp G - frameshift_variant P230 COAD-US 17 77808961 77808961 single base substitution G A 3_prime_UTR_variant COAD-US 17 77808961 77808961 single base substitution G A downstream_gene_variant COAD-US 17 77808961 77808961 single base substitution G A synonymous_variant H160H 480C>T COAD-US 17 77809471 77809471 single base substitution G A 3_prime_UTR_variant COAD-US 17 77809471 77809471 single base substitution G A downstream_gene_variant COAD-US 17 77809471 77809471 single base substitution G A missense_variant P29S 85C>T COAD-US 17 77809471 77809471 single base substitution G A missense_variant P74S 220C>T COCA-CN 17 77804985 77804985 single base substitution A G downstream_gene_variant COCA-CN 17 77807927 77807927 single base substitution A G downstream_gene_variant COCA-CN 17 77807927 77807927 single base substitution A G missense_variant V505A 1514T>C COCA-CN 17 77808179 77808179 single base substitution C T downstream_gene_variant COCA-CN 17 77808179 77808179 single base substitution C T missense_variant R421H 1262G>A COCA-CN 17 77808856 77808856 single base substitution G A 3_prime_UTR_variant COCA-CN 17 77808856 77808856 single base substitution G A downstream_gene_variant COCA-CN 17 77808856 77808856 single base substitution G A synonymous_variant P195P 585C>T COCA-CN 17 77809045 77809045 single base substitution C T 3_prime_UTR_variant COCA-CN 17 77809045 77809045 single base substitution C T downstream_gene_variant COCA-CN 17 77809045 77809045 single base substitution C T synonymous_variant P132P 396G>A COCA-CN 17 77809265 77809265 single base substitution G A downstream_gene_variant COCA-CN 17 77809265 77809265 single base substitution G A intron_variant COCA-CN 17 77809265 77809265 single base substitution G A missense_variant R56C 166C>T COCA-CN 17 77811738 77811738 single base substitution A G intron_variant COCA-CN 17 77811738 77811738 single base substitution A G upstream_gene_variant ESAD-UK 17 77801982 77801982 single base substitution A C downstream_gene_variant ESAD-UK 17 77803688 77803688 single base substitution G C downstream_gene_variant ESAD-UK 17 77804125 77804125 single base substitution C T downstream_gene_variant ESAD-UK 17 77805675 77805675 single base substitution G C downstream_gene_variant ESAD-UK 17 77807917 77807917 single base substitution T C downstream_gene_variant ESAD-UK 17 77807917 77807917 single base substitution T C synonymous_variant A508A 1524A>G ESAD-UK 17 77808485 77808485 single base substitution T C downstream_gene_variant ESAD-UK 17 77808485 77808485 single base substitution T C missense_variant K319R 956A>G ESAD-UK 17 77809947 77809947 single base substitution A G downstream_gene_variant ESAD-UK 17 77809947 77809947 single base substitution A G intron_variant ESAD-UK 17 77816097 77816097 single base substitution C G upstream_gene_variant ESAD-UK 17 77816196 77816196 deletion of <=200bp C - upstream_gene_variant ESAD-UK 17 77816449 77816449 single base substitution T C upstream_gene_variant KIRP-US 17 77807886 77807886 single base substitution G C downstream_gene_variant KIRP-US 17 77807886 77807886 single base substitution G C missense_variant P519A 1555C>G LAML-KR 17 77804963 77804963 single base substitution G C downstream_gene_variant LAML-KR 17 77804985 77804985 single base substitution A G downstream_gene_variant LIAD-FR 17 77807927 77807927 single base substitution A G downstream_gene_variant LIAD-FR 17 77807927 77807927 single base substitution A G missense_variant V505A 1514T>C LICA-FR 17 77807881 77807881 single base substitution G T downstream_gene_variant LICA-FR 17 77807881 77807881 single base substitution G T synonymous_variant A520A 1560C>A LICA-FR 17 77807927 77807927 single base substitution A G downstream_gene_variant LICA-FR 17 77807927 77807927 single base substitution A G missense_variant V505A 1514T>C LICA-FR 17 77808049 77808049 single base substitution C A downstream_gene_variant LICA-FR 17 77808049 77808049 single base substitution C A synonymous_variant L464L 1392G>T LIHC-US 17 77808471 77808471 single base substitution G A downstream_gene_variant LIHC-US 17 77808471 77808471 single base substitution G A missense_variant P324S 970C>T LIHC-US 17 77808750 77808750 insertion of <=200bp - G downstream_gene_variant LIHC-US 17 77808750 77808750 insertion of <=200bp - G frameshift_variant N231T? LIHC-US 17 77808830 77808830 insertion of <=200bp - C downstream_gene_variant LIHC-US 17 77808830 77808830 insertion of <=200bp - C frameshift_variant A204A? LINC-JP 17 77808241 77808241 insertion of <=200bp - GTG downstream_gene_variant LINC-JP 17 77808241 77808241 insertion of <=200bp - GTG inframe_insertion H400HH LINC-JP 17 77808784 77808784 single base substitution A C downstream_gene_variant LINC-JP 17 77808784 77808784 single base substitution A C synonymous_variant G219G 657T>G LINC-JP 17 77809310 77809310 single base substitution G T downstream_gene_variant LINC-JP 17 77809310 77809310 single base substitution G T intron_variant LINC-JP 17 77809310 77809310 single base substitution G T missense_variant L41I 121C>A LINC-JP 17 77810400 77810400 single base substitution T A downstream_gene_variant LINC-JP 17 77810400 77810400 single base substitution T A intron_variant LINC-JP 17 77812539 77812539 single base substitution C A intron_variant LINC-JP 17 77812539 77812539 single base substitution C A upstream_gene_variant LIRI-JP 17 77802490 77802490 single base substitution G T downstream_gene_variant LIRI-JP 17 77809130 77809130 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 77809130 77809130 single base substitution C T downstream_gene_variant LIRI-JP 17 77809130 77809130 single base substitution C T missense_variant R104H 311G>A LIRI-JP 17 77811142 77811142 single base substitution A C downstream_gene_variant LIRI-JP 17 77811142 77811142 single base substitution A C intron_variant LUSC-KR 17 77802197 77802197 single base substitution C G downstream_gene_variant LUSC-KR 17 77802731 77802731 single base substitution T A downstream_gene_variant LUSC-KR 17 77804985 77804985 single base substitution A G downstream_gene_variant LUSC-KR 17 77811854 77811854 single base substitution G A intron_variant LUSC-KR 17 77811854 77811854 single base substitution G A upstream_gene_variant LUSC-KR 17 77814316 77814316 single base substitution G T upstream_gene_variant LUSC-US 17 77808067 77808067 single base substitution C G downstream_gene_variant LUSC-US 17 77808067 77808067 single base substitution C G synonymous_variant P458P 1374G>C LUSC-US 17 77808241 77808249 deletion of <=200bp GTGGTGGTG - downstream_gene_variant LUSC-US 17 77808241 77808249 deletion of <=200bp GTGGTGGTG - inframe_deletion HHH398 MALY-DE 17 77806553 77806553 single base substitution C T downstream_gene_variant MELA-AU 17 77802110 77802110 single base substitution G A downstream_gene_variant MELA-AU 17 77802230 77802230 single base substitution G A downstream_gene_variant MELA-AU 17 77802321 77802321 single base substitution T A downstream_gene_variant MELA-AU 17 77802677 77802677 single base substitution G A downstream_gene_variant MELA-AU 17 77802987 77802987 single base substitution G A downstream_gene_variant MELA-AU 17 77803484 77803484 single base substitution C T downstream_gene_variant MELA-AU 17 77803594 77803594 single base substitution G A downstream_gene_variant MELA-AU 17 77804182 77804182 single base substitution G A downstream_gene_variant MELA-AU 17 77804239 77804239 single base substitution G A downstream_gene_variant MELA-AU 17 77804955 77804955 single base substitution G A downstream_gene_variant MELA-AU 17 77804965 77804965 single base substitution G A downstream_gene_variant MELA-AU 17 77804992 77804992 single base substitution G A downstream_gene_variant MELA-AU 17 77805036 77805036 single base substitution G A downstream_gene_variant MELA-AU 17 77805321 77805321 single base substitution C A downstream_gene_variant MELA-AU 17 77805606 77805606 single base substitution G A downstream_gene_variant MELA-AU 17 77805650 77805650 insertion of <=200bp - A downstream_gene_variant MELA-AU 17 77806076 77806076 single base substitution G C downstream_gene_variant MELA-AU 17 77806317 77806317 single base substitution A G downstream_gene_variant MELA-AU 17 77806754 77806754 single base substitution G A downstream_gene_variant MELA-AU 17 77806947 77806947 single base substitution A T downstream_gene_variant MELA-AU 17 77807376 77807376 single base substitution C T 3_prime_UTR_variant MELA-AU 17 77807376 77807376 single base substitution C T downstream_gene_variant MELA-AU 17 77807691 77807691 single base substitution G A 3_prime_UTR_variant MELA-AU 17 77807691 77807691 single base substitution G A downstream_gene_variant MELA-AU 17 77807838 77807838 single base substitution G A downstream_gene_variant MELA-AU 17 77807838 77807838 single base substitution G A missense_variant P535S 1603C>T MELA-AU 17 77809076 77809076 single base substitution A G 3_prime_UTR_variant MELA-AU 17 77809076 77809076 single base substitution A G downstream_gene_variant MELA-AU 17 77809076 77809076 single base substitution A G missense_variant L122P 365T>C MELA-AU 17 77809241 77809241 single base substitution C T downstream_gene_variant MELA-AU 17 77809241 77809241 single base substitution C T intron_variant MELA-AU 17 77809241 77809241 single base substitution C T missense_variant V64M 190G>A MELA-AU 17 77809391 77809391 single base substitution G A downstream_gene_variant MELA-AU 17 77809391 77809391 single base substitution G A intron_variant MELA-AU 17 77809901 77809901 single base substitution G A downstream_gene_variant MELA-AU 17 77809901 77809901 single base substitution G A intron_variant MELA-AU 17 77809913 77809913 single base substitution G A downstream_gene_variant MELA-AU 17 77809913 77809913 single base substitution G A intron_variant MELA-AU 17 77810026 77810026 single base substitution G A downstream_gene_variant MELA-AU 17 77810026 77810026 single base substitution G A intron_variant MELA-AU 17 77810208 77810208 single base substitution G A downstream_gene_variant MELA-AU 17 77810208 77810208 single base substitution G A intron_variant MELA-AU 17 77810334 77810334 single base substitution G A downstream_gene_variant MELA-AU 17 77810334 77810334 single base substitution G A intron_variant MELA-AU 17 77810521 77810521 single base substitution C G downstream_gene_variant MELA-AU 17 77810521 77810521 single base substitution C G intron_variant MELA-AU 17 77810750 77810750 single base substitution G A downstream_gene_variant MELA-AU 17 77810750 77810750 single base substitution G A intron_variant MELA-AU 17 77810884 77810884 single base substitution G A downstream_gene_variant MELA-AU 17 77810884 77810884 single base substitution G A intron_variant MELA-AU 17 77811484 77811484 single base substitution G A downstream_gene_variant MELA-AU 17 77811484 77811484 single base substitution G A intron_variant MELA-AU 17 77811723 77811723 single base substitution G A intron_variant MELA-AU 17 77811723 77811723 single base substitution G A upstream_gene_variant MELA-AU 17 77811930 77811930 single base substitution A T intron_variant MELA-AU 17 77811930 77811930 single base substitution A T upstream_gene_variant MELA-AU 17 77812599 77812599 single base substitution G A intron_variant MELA-AU 17 77812599 77812599 single base substitution G A upstream_gene_variant MELA-AU 17 77813447 77813447 single base substitution G A upstream_gene_variant MELA-AU 17 77813517 77813517 single base substitution C T upstream_gene_variant MELA-AU 17 77814445 77814445 single base substitution C T upstream_gene_variant MELA-AU 17 77815081 77815081 single base substitution C T upstream_gene_variant MELA-AU 17 77816075 77816075 single base substitution G A upstream_gene_variant MELA-AU 17 77816089 77816089 single base substitution G A upstream_gene_variant MELA-AU 17 77816166 77816166 single base substitution G A upstream_gene_variant MELA-AU 17 77816239 77816239 single base substitution G A upstream_gene_variant MELA-AU 17 77816503 77816504 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 77816542 77816542 single base substitution G A upstream_gene_variant MELA-AU 17 77817270 77817270 single base substitution G A upstream_gene_variant MELA-AU 17 77817491 77817491 single base substitution T G upstream_gene_variant MELA-AU 17 77817618 77817619 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 77817760 77817761 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 17 77802321 77802321 single base substitution T A downstream_gene_variant ORCA-IN 17 77802465 77802465 single base substitution C T downstream_gene_variant ORCA-IN 17 77804971 77804971 single base substitution C G downstream_gene_variant ORCA-IN 17 77807770 77807770 single base substitution G T downstream_gene_variant ORCA-IN 17 77807770 77807770 single base substitution G T stop_gained Y557* 1671C>A ORCA-IN 17 77816670 77816670 single base substitution G A upstream_gene_variant OV-AU 17 77802312 77802312 single base substitution C G downstream_gene_variant OV-AU 17 77804326 77804326 single base substitution G C downstream_gene_variant OV-AU 17 77808143 77808143 single base substitution A G downstream_gene_variant OV-AU 17 77808143 77808143 single base substitution A G missense_variant I433T 1298T>C OV-AU 17 77809679 77809679 single base substitution A C downstream_gene_variant OV-AU 17 77809679 77809679 single base substitution A C intron_variant OV-AU 17 77817369 77817369 single base substitution C T upstream_gene_variant PACA-AU 17 77804337 77804337 single base substitution G A downstream_gene_variant PACA-AU 17 77804506 77804506 single base substitution T G downstream_gene_variant PACA-AU 17 77807944 77807944 single base substitution C A downstream_gene_variant PACA-AU 17 77807944 77807944 single base substitution C A synonymous_variant A499A 1497G>T PACA-AU 17 77808002 77808002 single base substitution G A downstream_gene_variant PACA-AU 17 77808002 77808002 single base substitution G A missense_variant T480M 1439C>T PACA-AU 17 77810448 77810448 deletion of <=200bp A - downstream_gene_variant PACA-AU 17 77810448 77810448 deletion of <=200bp A - intron_variant PACA-AU 17 77812677 77812677 single base substitution A C intron_variant PACA-AU 17 77812677 77812677 single base substitution A C upstream_gene_variant PACA-AU 17 77815545 77815545 single base substitution G T upstream_gene_variant PACA-CA 17 77804239 77804239 single base substitution G A downstream_gene_variant PACA-CA 17 77805499 77805499 single base substitution C G downstream_gene_variant PACA-CA 17 77810395 77810395 single base substitution C A downstream_gene_variant PACA-CA 17 77810395 77810395 single base substitution C A intron_variant PACA-CA 17 77811673 77811673 single base substitution T C exon_variant PACA-CA 17 77811673 77811673 single base substitution T C missense_variant I3V 7A>G PACA-CA 17 77811673 77811673 single base substitution T C missense_variant I48V 142A>G PACA-CA 17 77814079 77814079 single base substitution G A upstream_gene_variant PACA-CA 17 77814646 77814646 single base substitution G T upstream_gene_variant PACA-CA 17 77814884 77814884 single base substitution C T upstream_gene_variant PACA-CA 17 77815701 77815701 single base substitution C A upstream_gene_variant PACA-CA 17 77816086 77816086 single base substitution G C upstream_gene_variant PAEN-AU 17 77804963 77804963 single base substitution G C downstream_gene_variant PAEN-IT 17 77816252 77816252 single base substitution C A upstream_gene_variant PBCA-DE 17 77803303 77803304 deletion of <=200bp TT - downstream_gene_variant PBCA-DE 17 77806336 77806336 single base substitution A C downstream_gene_variant PBCA-DE 17 77807128 77807128 single base substitution C T 3_prime_UTR_variant PBCA-DE 17 77807128 77807128 single base substitution C T downstream_gene_variant PBCA-DE 17 77807918 77807918 insertion of <=200bp - GCCGCC disruptive_inframe_insertion A508AAA PBCA-DE 17 77807918 77807918 insertion of <=200bp - GCCGCC downstream_gene_variant PBCA-DE 17 77808241 77808243 deletion of <=200bp GTG - downstream_gene_variant PBCA-DE 17 77808241 77808243 deletion of <=200bp GTG - inframe_deletion H400 PBCA-DE 17 77810778 77810778 single base substitution G T downstream_gene_variant PBCA-DE 17 77810778 77810778 single base substitution G T intron_variant PBCA-DE 17 77815101 77815101 single base substitution T G upstream_gene_variant PRAD-UK 17 77807802 77807802 single base substitution C T downstream_gene_variant PRAD-UK 17 77807802 77807802 single base substitution C T missense_variant A547T 1639G>A PRAD-UK 17 77814745 77814745 single base substitution A T upstream_gene_variant PRAD-US 17 77808481 77808483 deletion of <=200bp CTT - downstream_gene_variant PRAD-US 17 77808481 77808483 deletion of <=200bp CTT - inframe_deletion K320 PRAD-US 17 77808751 77808751 deletion of <=200bp G - downstream_gene_variant PRAD-US 17 77808751 77808751 deletion of <=200bp G - frameshift_variant P230 PRAD-US 17 77809099 77809099 single base substitution C T 3_prime_UTR_variant PRAD-US 17 77809099 77809099 single base substitution C T downstream_gene_variant PRAD-US 17 77809099 77809099 single base substitution C T synonymous_variant K114K 342G>A READ-US 17 77807927 77807927 single base substitution A G downstream_gene_variant READ-US 17 77807927 77807927 single base substitution A G missense_variant V505A 1514T>C RECA-EU 17 77803540 77803540 single base substitution C A downstream_gene_variant RECA-EU 17 77808734 77808734 single base substitution G A downstream_gene_variant RECA-EU 17 77808734 77808734 single base substitution G A missense_variant A236V 707C>T SKCA-BR 17 77803681 77803681 single base substitution T G downstream_gene_variant SKCA-BR 17 77804949 77804976 deletion of <=200bp CCTCTAGGGACAGAGGGGGTCTCGGACA - downstream_gene_variant SKCA-BR 17 77808570 77808570 single base substitution A G downstream_gene_variant SKCA-BR 17 77808570 77808570 single base substitution A G missense_variant S291P 871T>C SKCA-BR 17 77811711 77811711 single base substitution G A intron_variant SKCA-BR 17 77811711 77811711 single base substitution G A upstream_gene_variant SKCA-BR 17 77812919 77812919 single base substitution A C intron_variant SKCA-BR 17 77812919 77812919 single base substitution A C upstream_gene_variant SKCA-BR 17 77815263 77815263 single base substitution G A upstream_gene_variant SKCA-BR 17 77815667 77815667 single base substitution T G upstream_gene_variant SKCM-US 17 77808020 77808020 single base substitution T C downstream_gene_variant SKCM-US 17 77808020 77808020 single base substitution T C missense_variant D474G 1421A>G SKCM-US 17 77808070 77808070 single base substitution G A downstream_gene_variant SKCM-US 17 77808070 77808070 single base substitution G A synonymous_variant L457L 1371C>T SKCM-US 17 77808240 77808240 insertion of <=200bp - GTG downstream_gene_variant SKCM-US 17 77808240 77808240 insertion of <=200bp - GTG inframe_insertion A401AP SKCM-US 17 77808241 77808243 deletion of <=200bp GTG - downstream_gene_variant SKCM-US 17 77808241 77808243 deletion of <=200bp GTG - inframe_deletion H400 SKCM-US 17 77808568 77808568 single base substitution G A downstream_gene_variant SKCM-US 17 77808568 77808568 single base substitution G A synonymous_variant S291S 873C>T SKCM-US 17 77808599 77808599 single base substitution G A downstream_gene_variant SKCM-US 17 77808599 77808599 single base substitution G A missense_variant S281F 842C>T SKCM-US 17 77808752 77808752 single base substitution G A downstream_gene_variant SKCM-US 17 77808752 77808752 single base substitution G A missense_variant P230L 689C>T SKCM-US 17 77811688 77811688 single base substitution C A exon_variant SKCM-US 17 77811688 77811688 single base substitution C A stop_gained E43* 127G>T SKCM-US 17 77811688 77811688 single base substitution C A upstream_gene_variant STAD-US 17 77807929 77807929 single base substitution C T downstream_gene_variant STAD-US 17 77807929 77807929 single base substitution C T synonymous_variant A504A 1512G>A STAD-US 17 77807930 77807930 single base substitution G A downstream_gene_variant STAD-US 17 77807930 77807930 single base substitution G A missense_variant A504V 1511C>T STAD-US 17 77808735 77808735 single base substitution C T downstream_gene_variant STAD-US 17 77808735 77808735 single base substitution C T missense_variant A236T 706G>A STAD-US 17 77808751 77808751 insertion of <=200bp - G downstream_gene_variant STAD-US 17 77808751 77808751 insertion of <=200bp - G frameshift_variant P230P? STAD-US 17 77809003 77809003 single base substitution C T 3_prime_UTR_variant STAD-US 17 77809003 77809003 single base substitution C T downstream_gene_variant STAD-US 17 77809003 77809003 single base substitution C T synonymous_variant K146K 438G>A STAD-US 17 77809108 77809108 single base substitution C T 3_prime_UTR_variant STAD-US 17 77809108 77809108 single base substitution C T downstream_gene_variant STAD-US 17 77809108 77809108 single base substitution C T synonymous_variant A111A 333G>A UCEC-US 17 77808525 77808525 single base substitution C T downstream_gene_variant UCEC-US 17 77808525 77808525 single base substitution C T missense_variant A306T 916G>A UCEC-US 17 77808551 77808551 single base substitution C T downstream_gene_variant UCEC-US 17 77808551 77808551 single base substitution C T missense_variant R297Q 890G>A UCEC-US 17 77808649 77808649 single base substitution G A downstream_gene_variant UCEC-US 17 77808649 77808649 single base substitution G A synonymous_variant I264I 792C>T UCEC-US 17 77808708 77808708 single base substitution C T downstream_gene_variant UCEC-US 17 77808708 77808708 single base substitution C T missense_variant G245R 733G>A UCEC-US 17 77808756 77808756 single base substitution G T downstream_gene_variant UCEC-US 17 77808756 77808756 single base substitution G T missense_variant P229T 685C>A UCEC-US 17 77808934 77808934 single base substitution G A 3_prime_UTR_variant UCEC-US 17 77808934 77808934 single base substitution G A downstream_gene_variant UCEC-US 17 77808934 77808934 single base substitution G A synonymous_variant Y169Y 507C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2292382 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-CD-A4MG-01 COSM4070315 c.706G>A p.A236T Substitution - Missense 17:79834936-79834936 - RH30SJ_ COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - 93VU147T COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - TCGA-FW-A3R5-06 COSM3890609 c.689C>T p.P230L Substitution - Missense 17:79834953-79834953 - CRC-06T COSM5456652 c.585C>T p.P195P Substitution - coding silent 17:79835057-79835057 - TCGA-AP-A051-01 COSM985412 c.733G>A p.G245R Substitution - Missense 17:79834909-79834909 - PTC-88C COSM1191100 c.1167_1168insCAC p.H400_A401insH Insertion - In frame 17:79834474-79834475 - UD-SCC-2 COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - TCGA-AZ-6598-01 COSM1386960 c.690delC p.N231fs*3 Deletion - Frameshift 17:79834952-79834952 - UM-SCC-2 COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - 587278 COSM1199734 c.822G>A p.M274I Substitution - Missense 17:79834820-79834820 - SC_9104 COSM5549122 c.650C>T p.A217V Substitution - Missense 17:79834992-79834992 - ESCC-D5 COSM5046356 c.982A>T p.R328W Substitution - Missense 17:79834660-79834660 - TCGA-G4-6588-01 COSM1386959 c.690_691insC p.N231fs*81 Insertion - Frameshift 17:79834951-79834952 - S00933 COSM309883 c.1008C>G p.S336R Substitution - Missense 17:79834634-79834634 - T2197 COSM4669567 c.1561G>A p.E521K Substitution - Missense 17:79834081-79834081 - TCGA-AG-A01Y-01 COSM290239 c.555C>T p.C185C Substitution - coding silent 17:79835087-79835087 - T3267 COSM4669566 c.1587G>T p.S529S Substitution - coding silent 17:79834055-79834055 - SC_9093 COSM985414 c.507C>T p.Y169Y Substitution - coding silent 17:79835135-79835135 - 60T COSM106843 c.971C>T p.P324L Substitution - Missense 17:79834671-79834671 - SCC-9 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - TCGA-BT-A42C-01 COSM4390338 c.583C>G p.P195A Substitution - Missense 17:79835059-79835059 - 587220 COSM1199735 c.694G>A p.G232R Substitution - Missense 17:79834948-79834948 - TCGA-AP-A0LM-01 COSM985411 c.792C>T p.I264I Substitution - coding silent 17:79834850-79834850 - STC297 COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - TCGA-DY-A1DG-01 COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - PTC-7C COSM3755973 c.480C>T p.H160H Substitution - coding silent 17:79835162-79835162 - CHC155T COSM3668071 c.1560C>A p.A520A Substitution - coding silent 17:79834082-79834082 - I2L-P19Ta-Tumor-Organoid COSM5364056 c.853G>T p.A285S Substitution - Missense 17:79834789-79834789 - TCGA-AA-3492-01 COSM1386960 c.690delC p.N231fs*3 Deletion - Frameshift 17:79834952-79834952 - ML_79_T_01 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - WSU-HN8 COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - WSU-HN6 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - PTC-54C COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - NOKSI COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - BHY COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - TCGA-CK-4950-01 COSM1386956 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame 17:79834118-79834119 - 145 COSM3735164 c.657_669del13 p.G222fs*8 Deletion - Frameshift 17:79834973-79834985 - AOCS-096-1-7 COSM4139920 c.1298T>C p.I433T Substitution - Missense 17:79834344-79834344 - WSU-HN12 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - TCGA-G2-A2EF-01 COSM1303439 c.847G>T p.E283* Substitution - Nonsense 17:79834795-79834795 - CHC197T COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - BHY COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-GN-A268-06 COSM3523243 c.127G>T p.E43* Substitution - Nonsense 17:79837889-79837889 - T3658 COSM1386960 c.690delC p.N231fs*3 Deletion - Frameshift 17:79834952-79834952 - TCGA-AO-A128-01 COSM3820851 c.530A>G p.H177R Substitution - Missense 17:79835112-79835112 - CSCC-27-T COSM4462952 c.1269C>G p.P423P Substitution - coding silent 17:79834373-79834373 - SCC-15 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - LC_S51 COSM1191100 c.1167_1168insCAC p.H400_A401insH Insertion - In frame 17:79834474-79834475 - TCGA-AC-A23H-01 COSM3820852 c.198G>T p.L66L Substitution - coding silent 17:79835694-79835694 - UM-SCC-4 COSM4597323 c.712A>C p.K238Q Substitution - Missense 17:79834930-79834930 - WSU-HN30 COSM4597323 c.712A>C p.K238Q Substitution - Missense 17:79834930-79834930 - I2L-P19Ta-Tumor-Biopsy COSM5364056 c.853G>T p.A285S Substitution - Missense 17:79834789-79834789 - RMS111_ COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - WSU-HN6 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - UM-SCC-4 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - PD6684a COSM5791642 c.768G>C p.K256N Substitution - Missense 17:79834874-79834874 - CAL27 COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - CAL33 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - TCGA-D3-A51T-06 COSM3523242 c.842C>T p.S281F Substitution - Missense 17:79834800-79834800 - TCGA-D8-A1XQ-01 COSM3820850 c.630G>A p.A210A Substitution - coding silent 17:79835012-79835012 - PCSI_0537_Pa_P_526 COSM5031212 c.142A>G p.I48V Substitution - Missense 17:79837874-79837874 - S00836 COSM309882 c.366C>G p.L122L Substitution - coding silent 17:79835276-79835276 - OSCC-GB_00180111 COSM3712468 c.1671C>A p.Y557* Substitution - Nonsense 17:79833971-79833971 - CSCC-15-T COSM4528571 c.1548G>A p.E516E Substitution - coding silent 17:79834094-79834094 - ESCC_99 COSM562918 c.1502C>T p.A501V Substitution - Missense 17:79834140-79834140 - CSCC-49-T COSM4527037 c.1437G>A p.K479K Substitution - coding silent 17:79834205-79834205 - TCGA-G4-6302-01 COSM3691901 c.1520C>T p.A507V Substitution - Missense 17:79834122-79834122 - SNUH_G02_S1 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - COLO320-DM COSM4621429 c.457C>G p.Q153E Substitution - Missense 17:79835185-79835185 - CAL33 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - ORL-48 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-CM-5341-01 COSM1386956 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame 17:79834118-79834119 - CT-TC COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-A7-A0CD-01 COSM1386959 c.690_691insC p.N231fs*81 Insertion - Frameshift 17:79834951-79834952 - WA18 COSM239170 c.634A>G p.K212E Substitution - Missense 17:79835008-79835008 - T3024 COSM4669565 c.1646G>A p.C549Y Substitution - Missense 17:79833996-79833996 - SCC-25 COSM4597323 c.712A>C p.K238Q Substitution - Missense 17:79834930-79834930 - WA18 COSM239171 c.212_213delAG p.G73fs*29 Deletion - Frameshift 17:79835679-79835680 - PD13422a COSM5779959 c.1486G>C p.E496Q Substitution - Missense 17:79834156-79834156 - CAL27 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-IA-A40Y-01 COSM3989399 c.1555C>G p.P519A Substitution - Missense 17:79834087-79834087 - sysucc-882T COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - HGPIN78-1 COSM5415440 c.813G>T p.E271D Substitution - Missense 17:79834829-79834829 - TCGA-G3-A7M9-01 COSM110355 c.970C>T p.P324S Substitution - Missense 17:79834672-79834672 - TCGA-19-5952 COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - TCGA-E2-A15I-01 COSM3820853 c.191A>G p.E64G Substitution - Missense 17:79835701-79835701 - S00933 COSM309883 c.1008C>G p.S336R Substitution - Missense 17:79834634-79834634 - 166 COSM3721155 c.1630G>A p.D544N Substitution - Missense 17:79834012-79834012 - WSU-HN12 COSM4597323 c.712A>C p.K238Q Substitution - Missense 17:79834930-79834930 - HX29T COSM1130127 c.657T>G p.G219G Substitution - coding silent 17:79834985-79834985 - NOKSI COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - YUHAMA COSM5387552 c.1638C>T p.T546T Substitution - coding silent 17:79834004-79834004 - TCGA-EE-A2GI-06 COSM3523240 c.1371C>T p.L457L Substitution - coding silent 17:79834271-79834271 - SCC-25 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - T17 COSM5343047 c.1586C>T p.S529L Substitution - Missense 17:79834056-79834056 - TCGA-F4-6570-01 COSM1386958 c.816C>T p.N272N Substitution - coding silent 17:79834826-79834826 - CSCC-15-T COSM4456772 c.1020C>T p.P340P Substitution - coding silent 17:79834622-79834622 - UM-SCC-47 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - SJHGG018_D COSM4970101 c.1014G>A p.P338P Substitution - coding silent 17:79834628-79834628 - A7 COSM5350420 c.972G>A p.P324P Substitution - coding silent 17:79834670-79834670 - TCGA-AM-5820-01 COSM3755973 c.480C>T p.H160H Substitution - coding silent 17:79835162-79835162 - LUAD-S01302 COSM395660 c.1455G>A p.G485G Substitution - coding silent 17:79834187-79834187 - CHC1209T COSM4804719 c.1392G>T p.L464L Substitution - coding silent 17:79834250-79834250 - B21 COSM1745448 c.656_657insGGG p.G219_A220insG Insertion - In frame 17:79834985-79834986 - CSCC-47-T COSM4568014 c.970_971CC>TT p.P324L Substitution - Missense 17:79834671-79834672 - LUAD-CHTN-3090346 COSM356859 c.1456G>T p.E486* Substitution - Nonsense 17:79834186-79834186 - 2492729 COSM4669568 c.1158G>A p.P386P Substitution - coding silent 17:79834484-79834484 - UM-SCC-47 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - Pat_41_B COSM460184 c.1456G>A p.E486K Substitution - Missense 17:79834186-79834186 - BICR_22 COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - PD9585a COSM5779578 c.704C>T p.P235L Substitution - Missense 17:79834938-79834938 - TCGA-D9-A6EC-06 COSM4400793 c.1421A>G p.D474G Substitution - Missense 17:79834221-79834221 - WSU-HN12 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - sysucc-1397T COSM5473962 c.1262G>A p.R421H Substitution - Missense 17:79834380-79834380 - Pat_31_B COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - CSCC-37-T COSM4511622 c.874C>T p.P292S Substitution - Missense 17:79834768-79834768 - 60T COSM110355 c.970C>T p.P324S Substitution - Missense 17:79834672-79834672 - 18T COSM3712468 c.1671C>A p.Y557* Substitution - Nonsense 17:79833971-79833971 - 93VU147T COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-CG-5721-01 COSM4070317 c.333G>A p.A111A Substitution - coding silent 17:79835309-79835309 - CHC197T COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - SJBALL021373_D1 COSM4971875 c.1514_1515insGGCGGC p.A510_P511insAA Insertion - In frame 17:79834127-79834128 - TCGA-09-2051-01 COSM133536 c.956_957AG>TC p.K319I Substitution - Missense 17:79834685-79834686 - TCGA-B5-A11H-01 COSM985414 c.507C>T p.Y169Y Substitution - coding silent 17:79835135-79835135 - Pat_07_B COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - BICR_22 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - CSCC-7-T COSM4469555 c.1604C>T p.P535L Substitution - Missense 17:79834038-79834038 - UM-SCC-11B COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - 2_RESISTANT COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - Pat_06_A COSM4669567 c.1561G>A p.E521K Substitution - Missense 17:79834081-79834081 - UM-SCC-17B COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - ESO-409 COSM1247403 c.1289C>T p.A430V Substitution - Missense 17:79834353-79834353 - RMS77_ COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - UM-SCC-2 COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - pfg143T COSM4747512 c.1219_1220delTC p.S407fs*39 Deletion - Frameshift 17:79834422-79834423 - SJHGG106_A COSM4971875 c.1514_1515insGGCGGC p.A510_P511insAA Insertion - In frame 17:79834127-79834128 - PD9591a COSM5772519 c.323A>C p.D108A Substitution - Missense 17:79835319-79835319 - WSU-HN13 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - UM-SCC-2 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - LP6005500-DNA_G02 COSM3721156 c.1524A>G p.A508A Substitution - coding silent 17:79834118-79834118 - WSU-HN8 COSM4597323 c.712A>C p.K238Q Substitution - Missense 17:79834930-79834930 - TCGA-AP-A0LM-01 COSM985410 c.890G>A p.R297Q Substitution - Missense 17:79834752-79834752 - TCGA-22-5478-01 COSM708776 c.1374G>C p.P458P Substitution - coding silent 17:79834268-79834268 - SCC-25 COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - P-Thy016 COSM1130127 c.657T>G p.G219G Substitution - coding silent 17:79834985-79834985 - RMS85_ COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - CAL27 COSM4591511 c.670G>A p.G224S Substitution - Missense 17:79834972-79834972 - WSU-HN8 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - 19M COSM5578231 c.700A>T p.M234L Substitution - Missense 17:79834942-79834942 - 61 COSM5741171 c.298T>C p.S100P Substitution - Missense 17:79835344-79835344 - UD-SCC-2 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - CSCC-31-T COSM4467114 c.1470C>T p.S490S Substitution - coding silent 17:79834172-79834172 - TCGA-BL-A13I-01 COSM417946 c.181G>A p.E61K Substitution - Missense 17:79835711-79835711 - WSU-HN8 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-G9-6329-01 COSM3672610 c.342G>A p.K114K Substitution - coding silent 17:79835300-79835300 - CSB26 COSM5028381 c.540G>A p.A180A Substitution - coding silent 17:79835102-79835102 - 258 COSM3721156 c.1524A>G p.A508A Substitution - coding silent 17:79834118-79834118 - TCGA-CH-5767-01 COSM1130127 c.657T>G p.G219G Substitution - coding silent 17:79834985-79834985 - TCGA-D1-A17D-01 COSM985409 c.916G>A p.A306T Substitution - Missense 17:79834726-79834726 - SCC-15 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - 8016470 COSM3388267 c.1439C>T p.T480M Substitution - Missense 17:79834203-79834203 - 8067214 COSM3773328 c.1497G>T p.A499A Substitution - coding silent 17:79834145-79834145 - TCGA-HU-A4GX-01 COSM4070314 c.1511C>T p.A504V Substitution - Missense 17:79834131-79834131 - TCGA-DM-A28K-01 COSM1386956 c.1523_1524insGGCGGC p.A510_P511insAA Insertion - In frame 17:79834118-79834119 - BD124T COSM5493650 c.772_777delAAGAAC p.K258_N259delKN Deletion - In frame 17:79834865-79834870 - TCGA-DK-A2I6-01 COSM1303440 c.759C>G p.V253V Substitution - coding silent 17:79834883-79834883 - CAL27 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - CHC1439T COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - 1990628 COSM1666833 c.1514T>C p.V505A Substitution - Missense 17:79834128-79834128 - PD9585a COSM5779506 c.1640C>G p.A547G Substitution - Missense 17:79834002-79834002 - CHC1209T COSM4804719 c.1392G>T p.L464L Substitution - coding silent 17:79834250-79834250 - T3152 COSM1386960 c.690delC p.N231fs*3 Deletion - Frameshift 17:79834952-79834952 - SW1222 COSM562918 c.1502C>T p.A501V Substitution - Missense 17:79834140-79834140 - WSU-HN30 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - B99-Tumor COSM3932769 c.908A>C p.H303P Substitution - Missense 17:79834734-79834734 - UM-SCC-11B COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-A6-6781-01 COSM1386961 c.220C>T p.P74S Substitution - Missense 17:79835672-79835672 - CSCC-27-T COSM4503324 c.637C>T p.P213S Substitution - Missense 17:79835005-79835005 - TCGA-B5-A11Y-01 COSM985413 c.685C>A p.P229T Substitution - Missense 17:79834957-79834957 - BICR_22 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - CSCC-17-T COSM4467607 c.1499C>T p.S500L Substitution - Missense 17:79834143-79834143 - C0001T COSM4151784 c.707C>T p.A236V Substitution - Missense 17:79834935-79834935 - TCGA-DS-A0VN-01 COSM460184 c.1456G>A p.E486K Substitution - Missense 17:79834186-79834186 - SNU-175 COSM2802818 c.1452delC p.E486fs*8 Deletion - Frameshift 17:79834190-79834190 - WSU-HN30 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - CHC155T COSM3668071 c.1560C>A p.A520A Substitution - coding silent 17:79834082-79834082 - TCGA-C5-A1ME-01 COSM4820610 c.1000G>A p.G334R Substitution - Missense 17:79834642-79834642 - WSU-HN30 COSM1723044 c.1198_1200delCAC p.H400delH Deletion - In frame 17:79834442-79834444 - LUAD-CHTN-MAD06-00668 COSM359142 c.559G>T p.D187Y Substitution - Missense 17:79835083-79835083 - Detroit_562 COSM4594938 c.108G>T p.S36S Substitution - coding silent 17:79839016-79839016 - UPCI:SCC090 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - SCC-25 COSM4593173 c.691A>C p.N231H Substitution - Missense 17:79834951-79834951 - 2292381 COSM4000327 c.871T>C p.S291P Substitution - Missense 17:79834771-79834771 - TCGA-BR-7707-01 COSM4070316 c.438G>A p.K146K Substitution - coding silent 17:79835204-79835204 - PD18149a COSM5783837 c.280A>T p.T94S Substitution - Missense 17:79835362-79835362 - SNU-175 COSM2802815 c.1587G>A p.S529S Substitution - coding silent 17:79834055-79834055 - TCGA-AD-6889-01 COSM1386957 c.900C>T p.D300D Substitution - coding silent 17:79834742-79834742 - TCGA-BR-6452-01 COSM4070313 c.1512G>A p.A504A Substitution - coding silent 17:79834130-79834130 - T2197 COSM4669568 c.1158G>A p.P386P Substitution - coding silent 17:79834484-79834484 - TCGA-D3-A5GO-06 COSM3523241 c.873C>T p.S291S Substitution - coding silent 17:79834769-79834769 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743400;Hs.743401 17q25.3 603079

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Nonsense p.E283* c.847G>T 17 77808594 BLCA C A Nonsense p.E43* c.127G>T 17 77811688 CM C G Synonymous p.P458P c.1374G>C 17 77808067 LUSC CT GA Missense p.K319I c.956_957delinsTC 17 77808484 OV C T IntronicSNV . c.247-47G>A 17 77809241 CM C T Missense p.A306T c.916G>A 17 77808525 UCEC C T Missense p.D544N c.1630G>A 17 77807811 HNSC C T Missense p.E61K c.181G>A 17 77809510 BLCA C T Missense p.R137Q c.410G>A 17 77809031 BRCA C T Missense p.V545I c.1633G>A 17 77807808 LUAD C T Synonymous p.A180A c.540G>A 17 77808901 BRCA C T Synonymous p.K114K c.342G>A 17 77809099 PRAD CT TG Missense p.R72Q c.214_215delinsCA 17 77809476 CM G A Missense p.A430V c.1289C>T 17 77808152 ESCA G A Missense p.A501V c.1502C>T 17 77807939 LUAD G A Missense p.P183S c.547C>T 17 77808894 CM G A Missense p.P324L c.971C>T 17 77808470 HNSC G A Missense p.P338S c.1012C>T 17 77808429 HNSC G A Synonymous p.C185C c.555C>T 17 77808886 COREAD G A Synonymous p.L457L c.1371C>T 17 77808070 CM G A Synonymous p.Y169Y c.507C>T 17 77808934 UCEC G C Missense p.P388R c.1163C>G 17 77808278 LUAD G C Missense p.S336R c.1008C>G 17 77808433 SCLC G C Synonymous p.L122L c.366C>G 17 77809075 SCLC G C Synonymous p.V253V c.759C>G 17 77808682 BLCA GTGGTGGTG - InFrameDeletion p.H398_H400delHHH c.1192_1200delCACCACCAC 17 77808241 LUSC GTG - InFrameDeletion p.H400delH c.1198_1200delCAC 17 77808241 CM GTG - InFrameDeletion p.H400delH c.1198_1200delCAC 17 77808241 HNSC - GTG InFrameInsertion p.H400_A401insT c.1200_1201insACC 17 77808241 CM G T Missense p.P229T c.685C>A 17 77808756 UCEC