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 23 119669705 119669706 + Frame_Shift_Del DEL AC AC - TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chrX:119669705_119669706delAC c.2193_2194delGT c.(2191-2196)gtgttafs p.L732fs BLCA 23 119669775 119669775 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chrX:119669775G>C c.2124C>G c.(2122-2124)ttC>ttG p.F708L BLCA 23 119670868 119670868 + Missense_Mutation SNP G G A TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chrX:119670868G>A c.2014C>T c.(2014-2016)Ccg>Tcg p.P672S BLCA 23 119670883 119670883 + Nonsense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chrX:119670883G>A c.1999C>T c.(1999-2001)Cag>Tag p.Q667* BLCA 23 119673229 119673229 + Splice_Site SNP T T G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chrX:119673229T>G c.e14-2 BLCA 23 119679350 119679350 + Frame_Shift_Del DEL A A - TCGA-GC-A3RD-01A-12D-A22Z-08 TCGA-GC-A3RD-10B-01D-A22Z-08 g.chrX:119679350delA c.923delT c.(922-924)ttgfs p.L308fs BLCA 23 119691789 119691789 + Missense_Mutation SNP T T A TCGA-HQ-A2OF-01A-11D-A26M-08 TCGA-HQ-A2OF-10B-01D-A26K-08 g.chrX:119691789T>A c.716A>T c.(715-717)gAa>gTa p.E239V BLCA 23 119691810 119691810 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chrX:119691810G>A c.695C>T c.(694-696)tCa>tTa p.S232L BLCA 23 119694179 119694179 + Silent SNP G G A TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chrX:119694179G>A c.369C>T c.(367-369)gaC>gaT p.D123D BLCA 23 119694219 119694219 + Missense_Mutation SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrX:119694219G>A c.329C>T c.(328-330)tCc>tTc p.S110F BLCA 23 119694330 119694330 + Missense_Mutation SNP C C T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chrX:119694330C>T c.218G>A c.(217-219)aGa>aAa p.R73K BRCA 23 119660675 119660675 + Missense_Mutation SNP C C T TCGA-A8-A09G-01A-21W-A019-09 TCGA-A8-A09G-10A-01W-A021-09 g.chrX:119660675C>T c.2683G>A c.(2683-2685)Gac>Aac p.D895N BRCA 23 119673224 119673224 + Missense_Mutation SNP T T A TCGA-E9-A243-01A-21D-A167-09 TCGA-E9-A243-10A-01D-A17G-09 g.chrX:119673224T>A c.1694A>T c.(1693-1695)aAg>aTg p.K565M BRCA 23 119678367 119678367 + Missense_Mutation SNP C C T TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 g.chrX:119678367C>T c.1106G>A c.(1105-1107)cGa>cAa p.R369Q BRCA 23 119678470 119678470 + Missense_Mutation SNP G G A TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chrX:119678470G>A c.1003C>T c.(1003-1005)Cat>Tat p.H335Y BRCA 23 119679331 119679331 + Nonsense_Mutation SNP G G T TCGA-BH-A0EE-01A-11W-A050-09 TCGA-BH-A0EE-10A-01W-A055-09 g.chrX:119679331G>T c.942C>A c.(940-942)taC>taA p.Y314* BRCA 23 119691821 119691821 + Missense_Mutation SNP C C A TCGA-BH-A18F-01A-11D-A12B-09 TCGA-BH-A18F-11A-22D-A12B-09 g.chrX:119691821C>A c.684G>T c.(682-684)caG>caT p.Q228H BRCA 23 119691862 119691862 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:119691862C>T c.643G>A c.(643-645)Gaa>Aaa p.E215K BRCA 23 119694135 119694135 + Missense_Mutation SNP G G C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 g.chrX:119694135G>C c.413C>G c.(412-414)tCc>tGc p.S138C CESC 23 119674274 119674274 + Silent SNP T T G TCGA-EA-A5ZF-01A-11D-A28B-09 TCGA-EA-A5ZF-10A-01D-A28E-09 g.chrX:119674274T>G c.1641A>C c.(1639-1641)gcA>gcC p.A547A CESC 23 119678052 119678052 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chrX:119678052G>C c.1144C>G c.(1144-1146)Caa>Gaa p.Q382E CESC 23 119678348 119678348 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chrX:119678348C>G c.1125G>C c.(1123-1125)ctG>ctC p.L375L CESC 23 119694468 119694468 + Missense_Mutation SNP G G T TCGA-C5-A1ME-01A-11D-A13W-08 TCGA-C5-A1ME-10A-01D-A13W-08 g.chrX:119694468G>T c.80C>A c.(79-81)cCc>cAc p.P27H COAD 23 119666282 119666282 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:119666282C>A c.2488G>T c.(2488-2490)Gaa>Taa p.E830* COAD 23 119666282 119666282 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:119666282C>A c.2488G>T c.(2488-2490)Gaa>Taa p.E830* COAD 23 119666399 119666399 + Missense_Mutation SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:119666399T>C c.2371A>G c.(2371-2373)Aga>Gga p.R791G COAD 23 119668391 119668391 + Missense_Mutation SNP C C A TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chrX:119668391C>A c.2265G>T c.(2263-2265)atG>atT p.M755I COAD 23 119670835 119670835 + Missense_Mutation SNP T T A TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chrX:119670835T>A c.2047A>T c.(2047-2049)Aca>Tca p.T683S COAD 23 119674340 119674340 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:119674340C>A c.1575G>T c.(1573-1575)aaG>aaT p.K525N COAD 23 119678361 119678361 + Missense_Mutation SNP A A T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119678361A>T c.1112T>A c.(1111-1113)cTt>cAt p.L371H COAD 23 119678367 119678367 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:119678367C>T c.1106G>A c.(1105-1107)cGa>cAa p.R369Q COAD 23 119681025 119681025 + Missense_Mutation SNP C C G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chrX:119681025C>G c.796G>C c.(796-798)Gat>Cat p.D266H COAD 23 119694090 119694090 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119694090T>C c.458A>G c.(457-459)cAg>cGg p.Q153R COAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S COAD 23 119694438 119694438 + Missense_Mutation SNP T T A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chrX:119694438T>A c.110A>T c.(109-111)gAg>gTg p.E37V COADREAD 23 119666282 119666282 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:119666282C>A c.2488G>T c.(2488-2490)Gaa>Taa p.E830* COADREAD 23 119666282 119666282 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:119666282C>A c.2488G>T c.(2488-2490)Gaa>Taa p.E830* COADREAD 23 119666399 119666399 + Missense_Mutation SNP T T C TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:119666399T>C c.2371A>G c.(2371-2373)Aga>Gga p.R791G COADREAD 23 119668391 119668391 + Missense_Mutation SNP C C A TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chrX:119668391C>A c.2265G>T c.(2263-2265)atG>atT p.M755I COADREAD 23 119670835 119670835 + Missense_Mutation SNP T T A TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chrX:119670835T>A c.2047A>T c.(2047-2049)Aca>Tca p.T683S COADREAD 23 119674340 119674340 + Missense_Mutation SNP C C A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:119674340C>A c.1575G>T c.(1573-1575)aaG>aaT p.K525N COADREAD 23 119678361 119678361 + Missense_Mutation SNP A A T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119678361A>T c.1112T>A c.(1111-1113)cTt>cAt p.L371H COADREAD 23 119678367 119678367 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:119678367C>T c.1106G>A c.(1105-1107)cGa>cAa p.R369Q COADREAD 23 119681025 119681025 + Missense_Mutation SNP C C G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chrX:119681025C>G c.796G>C c.(796-798)Gat>Cat p.D266H COADREAD 23 119694090 119694090 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119694090T>C c.458A>G c.(457-459)cAg>cGg p.Q153R COADREAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S COADREAD 23 119694438 119694438 + Missense_Mutation SNP T T A TCGA-G4-6307-01A-11D-1719-10 TCGA-G4-6307-10A-01D-1720-10 g.chrX:119694438T>A c.110A>T c.(109-111)gAg>gTg p.E37V COADREAD 23 119708410 119708410 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:119708410G>A c.63C>T c.(61-63)gaC>gaT p.D21D ESCA 23 119668405 119668405 + Missense_Mutation SNP G G T TCGA-L5-A8NU-01A-11D-A36J-09 TCGA-L5-A8NU-11A-11D-A36M-09 g.chrX:119668405G>T c.2251C>A c.(2251-2253)Ctg>Atg p.L751M ESCA 23 119672585 119672585 + Silent SNP G G T TCGA-R6-A6KZ-01A-11D-A31U-09 TCGA-R6-A6KZ-10A-01D-A31U-09 g.chrX:119672585G>T c.1836C>A c.(1834-1836)gcC>gcA p.A612A ESCA 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S GBMLGG 23 119669687 119669687 + Missense_Mutation SNP C C G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chrX:119669687C>G c.2212G>C c.(2212-2214)Gag>Cag p.E738Q GBMLGG 23 119672534 119672534 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119672534C>T c.1887G>A c.(1885-1887)atG>atA p.M629I GBMLGG 23 119673128 119673128 + Missense_Mutation SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 g.chrX:119673128A>G c.1790T>C c.(1789-1791)aTc>aCc p.I597T GBMLGG 23 119674287 119674287 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119674287G>T c.1628C>A c.(1627-1629)gCc>gAc p.A543D GBMLGG 23 119674329 119674329 + Missense_Mutation SNP A A T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chrX:119674329A>T c.1586T>A c.(1585-1587)aTa>aAa p.I529K GBMLGG 23 119677596 119677599 + Frame_Shift_Del DEL TAAG TAAG - TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chrX:119677596_119677599delTAAG c.1293_1296delCTTA c.(1291-1296)tacttafs p.YL431fs GBMLGG 23 119677613 119677613 + Nonsense_Mutation SNP T T A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chrX:119677613T>A c.1279A>T c.(1279-1281)Aga>Tga p.R427* GBMLGG 23 119678007 119678007 + Missense_Mutation SNP A A G TCGA-S9-A6WN-01A-12D-A33T-08 TCGA-S9-A6WN-10A-01D-A33W-08 g.chrX:119678007A>G c.1189T>C c.(1189-1191)Tat>Cat p.Y397H GBMLGG 23 119678008 119678008 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119678008G>A c.1188C>T c.(1186-1188)ctC>ctT p.L396L GBMLGG 23 119678463 119678465 + In_Frame_Del DEL ATA ATA - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chrX:119678463_119678465delATA c.1008_1010delTAT c.(1006-1011)attata>ata p.336_337II>I GBMLGG 23 119691896 119691896 + Splice_Site SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 g.chrX:119691896T>C c.e4-2 GBMLGG 23 119693958 119693958 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119693958A>G c.590T>C c.(589-591)tTa>tCa p.L197S GBMLGG 23 119694140 119694140 + Missense_Mutation SNP C C G TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chrX:119694140C>G c.408G>C c.(406-408)gaG>gaC p.E136D GBMLGG 23 119708422 119708422 + Silent SNP A A G TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 g.chrX:119708422A>G c.51T>C c.(49-51)acT>acC p.T17T HNSC 23 119660660 119660660 + Missense_Mutation SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 g.chrX:119660660C>T c.2698G>A c.(2698-2700)Gaa>Aaa p.E900K HNSC 23 119666336 119666336 + Missense_Mutation SNP C C G TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chrX:119666336C>G c.2434G>C c.(2434-2436)Gat>Cat p.D812H HNSC 23 119669722 119669722 + Missense_Mutation SNP G G C TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chrX:119669722G>C c.2177C>G c.(2176-2178)aCc>aGc p.T726S HNSC 23 119670819 119670819 + Missense_Mutation SNP G G T TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chrX:119670819G>T c.2063C>A c.(2062-2064)cCg>cAg p.P688Q HNSC 23 119672528 119672528 + Silent SNP G G T TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chrX:119672528G>T c.1893C>A c.(1891-1893)tcC>tcA p.S631S HNSC 23 119672603 119672603 + Missense_Mutation SNP G G T TCGA-BB-7870-01A-11D-2229-08 TCGA-BB-7870-10A-01D-2229-08 g.chrX:119672603G>T c.1818C>A c.(1816-1818)ttC>ttA p.F606L HNSC 23 119677600 119677600 + Missense_Mutation SNP T T G TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chrX:119677600T>G c.1292A>C c.(1291-1293)tAc>tCc p.Y431S HNSC 23 119694442 119694442 + Nonsense_Mutation SNP G G A TCGA-CV-7248-01A-11D-2012-08 TCGA-CV-7248-10A-01D-2013-08 g.chrX:119694442G>A c.106C>T c.(106-108)Cag>Tag p.Q36* KIPAN 23 119694026 119694026 + Missense_Mutation SNP G G T TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chrX:119694026G>T c.522C>A c.(520-522)aaC>aaA p.N174K KIRC 23 119694026 119694026 + Missense_Mutation SNP G G T TCGA-BP-4782-01A-02D-1421-08 TCGA-BP-4782-11A-01D-1421-08 g.chrX:119694026G>T c.522C>A c.(520-522)aaC>aaA p.N174K LGG 23 119669687 119669687 + Missense_Mutation SNP C C G TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chrX:119669687C>G c.2212G>C c.(2212-2214)Gag>Cag p.E738Q LGG 23 119672534 119672534 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119672534C>T c.1887G>A c.(1885-1887)atG>atA p.M629I LGG 23 119673128 119673128 + Missense_Mutation SNP A A G TCGA-FG-A87N-01A-11D-A36O-08 TCGA-FG-A87N-10A-01D-A367-08 g.chrX:119673128A>G c.1790T>C c.(1789-1791)aTc>aCc p.I597T LGG 23 119674287 119674287 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119674287G>T c.1628C>A c.(1627-1629)gCc>gAc p.A543D LGG 23 119674329 119674329 + Missense_Mutation SNP A A T TCGA-S9-A6TZ-01A-21D-A32B-08 TCGA-S9-A6TZ-10A-01D-A329-08 g.chrX:119674329A>T c.1586T>A c.(1585-1587)aTa>aAa p.I529K LGG 23 119677596 119677599 + Frame_Shift_Del DEL TAAG TAAG - TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chrX:119677596_119677599delTAAG c.1293_1296delCTTA c.(1291-1296)tacttafs p.YL431fs LGG 23 119677613 119677613 + Nonsense_Mutation SNP T T A TCGA-S9-A6WM-01A-12D-A33T-08 TCGA-S9-A6WM-10A-01D-A33W-08 g.chrX:119677613T>A c.1279A>T c.(1279-1281)Aga>Tga p.R427* LGG 23 119678007 119678007 + Missense_Mutation SNP A A G TCGA-S9-A6WN-01A-12D-A33T-08 TCGA-S9-A6WN-10A-01D-A33W-08 g.chrX:119678007A>G c.1189T>C c.(1189-1191)Tat>Cat p.Y397H LGG 23 119678008 119678008 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119678008G>A c.1188C>T c.(1186-1188)ctC>ctT p.L396L LGG 23 119678463 119678465 + In_Frame_Del DEL ATA ATA - TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chrX:119678463_119678465delATA c.1008_1010delTAT c.(1006-1011)attata>ata p.336_337II>I LGG 23 119691896 119691896 + Splice_Site SNP T T C TCGA-CS-6670-01A-11D-1893-08 TCGA-CS-6670-10A-01D-1893-08 g.chrX:119691896T>C c.e4-2 LGG 23 119693958 119693958 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:119693958A>G c.590T>C c.(589-591)tTa>tCa p.L197S LGG 23 119694140 119694140 + Missense_Mutation SNP C C G TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chrX:119694140C>G c.408G>C c.(406-408)gaG>gaC p.E136D LGG 23 119708422 119708422 + Silent SNP A A G TCGA-DU-7009-01A-11D-2024-08 TCGA-DU-7009-10A-01D-2024-08 g.chrX:119708422A>G c.51T>C c.(49-51)acT>acC p.T17T LIHC 23 119669737 119669737 + Missense_Mutation SNP A A C TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chrX:119669737A>C c.2162T>G c.(2161-2163)cTt>cGt p.L721R LIHC 23 119672026 119672026 + Missense_Mutation SNP A A G TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chrX:119672026A>G c.1945T>C c.(1945-1947)Ttt>Ctt p.F649L LIHC 23 119677623 119677623 + Silent SNP T T C TCGA-ZP-A9D1-01A-11D-A382-10 TCGA-ZP-A9D1-10B-01D-A385-10 g.chrX:119677623T>C c.1269A>G c.(1267-1269)gaA>gaG p.E423E LUAD 23 119660694 119660694 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chrX:119660694C>G c.2664G>C c.(2662-2664)aaG>aaC p.K888N LUAD 23 119664014 119664014 + Silent SNP T T A TCGA-55-6543-01A-11D-1753-08 TCGA-55-6543-10A-01D-1753-08 g.chrX:119664014T>A c.2589A>T c.(2587-2589)acA>acT p.T863T LUAD 23 119664098 119664098 + Missense_Mutation SNP T T A TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chrX:119664098T>A c.2505A>T c.(2503-2505)caA>caT p.Q835H LUAD 23 119666391 119666391 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chrX:119666391C>T c.2379G>A c.(2377-2379)ctG>ctA p.L793L LUAD 23 119666435 119666435 + Missense_Mutation SNP T T A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chrX:119666435T>A c.2335A>T c.(2335-2337)Agg>Tgg p.R779W LUAD 23 119668355 119668355 + Silent SNP G G T TCGA-49-6744-01A-11D-1855-08 TCGA-49-6744-11A-01D-1855-08 g.chrX:119668355G>T c.2301C>A c.(2299-2301)atC>atA p.I767I LUAD 23 119672061 119672061 + Missense_Mutation SNP C C T TCGA-NJ-A55A-01A-11D-A25L-08 TCGA-NJ-A55A-10A-01D-A25L-08 g.chrX:119672061C>T c.1910G>A c.(1909-1911)tGc>tAc p.C637Y LUAD 23 119673217 119673217 + Silent SNP T T A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:119673217T>A c.1701A>T c.(1699-1701)gtA>gtT p.V567V LUAD 23 119678060 119678060 + Splice_Site SNP T T A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:119678060T>A c.e9-2 LUAD 23 119678408 119678408 + Silent SNP C C T TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chrX:119678408C>T c.1065G>A c.(1063-1065)gaG>gaA p.E355E LUAD 23 119680993 119680993 + Missense_Mutation SNP T T A TCGA-97-A4M1-01A-11D-A24P-08 TCGA-97-A4M1-10A-01D-A24P-08 g.chrX:119680993T>A c.828A>T c.(826-828)agA>agT p.R276S LUAD 23 119694153 119694153 + Missense_Mutation SNP G G C TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chrX:119694153G>C c.395C>G c.(394-396)gCg>gGg p.A132G LUAD 23 119694176 119694176 + Silent SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:119694176G>T c.372C>A c.(370-372)acC>acA p.T124T LUAD 23 119694234 119694234 + Missense_Mutation SNP A A T TCGA-55-8097-01A-11D-2238-08 TCGA-55-8097-10A-01D-2238-08 g.chrX:119694234A>T c.314T>A c.(313-315)gTt>gAt p.V105D LUSC 23 119660631 119660631 + Nonsense_Mutation SNP G G T TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chrX:119660631G>T c.2727C>A c.(2725-2727)taC>taA p.Y909* LUSC 23 119664005 119664005 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chrX:119664005G>T c.2598C>A c.(2596-2598)caC>caA p.H866Q LUSC 23 119680457 119680457 + Missense_Mutation SNP C C A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chrX:119680457C>A c.845G>T c.(844-846)aGc>aTc p.S282I LUSC 23 119693974 119693974 + Missense_Mutation SNP C C G TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chrX:119693974C>G c.574G>C c.(574-576)Ggc>Cgc p.G192R LUSC 23 119694097 119694097 + Missense_Mutation SNP T T A TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chrX:119694097T>A c.451A>T c.(451-453)Aca>Tca p.T151S OV 23 119694128 119694128 + Silent SNP G G A TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 g.chrX:119694128G>A c.420C>T c.(418-420)tcC>tcT p.S140S PAAD 23 119668403 119668403 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:119668403C>T c.2253G>A c.(2251-2253)ctG>ctA p.L751L PAAD 23 119668405 119668405 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:119668405G>A c.2251C>T c.(2251-2253)Ctg>Ttg p.L751L PAAD 23 119674244 119674244 + Missense_Mutation SNP A A C TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chrX:119674244A>C c.1671T>G c.(1669-1671)aaT>aaG p.N557K PAAD 23 119674407 119674407 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:119674407C>A c.1508G>T c.(1507-1509)aGc>aTc p.S503I PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-2J-AABO-01A-21D-A40W-08 TCGA-2J-AABO-10A-01D-A40W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-RL-AAAS-01A-32D-A397-08 TCGA-RL-AAAS-10A-01D-A39A-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-XD-AAUH-01A-42D-A40W-08 TCGA-XD-AAUH-11A-11D-A40W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PAAD 23 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-Z5-AAPL-01A-12D-A40W-08 TCGA-Z5-AAPL-10A-01D-A40W-08 g.chrX:119694117_119694119delGAG c.429_431delCTC c.(427-432)tcctca>tca p.143_144SS>S PCPG 23 119672576 119672576 + Silent SNP C C A TCGA-QT-A5XP-01A-11D-A35D-08 TCGA-QT-A5XP-10A-01D-A35B-08 g.chrX:119672576C>A c.1845G>T c.(1843-1845)ctG>ctT p.L615L PRAD 23 119694003 119694003 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:119694003G>A c.545C>T c.(544-546)aCc>aTc p.T182I READ 23 119708410 119708410 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:119708410G>A c.63C>T c.(61-63)gaC>gaT p.D21D SARC 23 119670866 119670866 + Silent SNP C C G TCGA-MB-A8JK-01A-11D-A36J-09 TCGA-MB-A8JK-10A-01D-A36M-09 g.chrX:119670866C>G c.2016G>C c.(2014-2016)ccG>ccC p.P672P SARC 23 119672572 119672572 + Missense_Mutation SNP C C A TCGA-DX-A1L3-01A-11D-A24N-09 TCGA-DX-A1L3-10A-01D-A24N-09 g.chrX:119672572C>A c.1849G>T c.(1849-1851)Gtc>Ttc p.V617F SARC 23 119691849 119691849 + Missense_Mutation SNP T T G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 g.chrX:119691849T>G c.656A>C c.(655-657)aAa>aCa p.K219T SARC 23 119694212 119694212 + Missense_Mutation SNP G G T TCGA-RN-AAAQ-01A-21D-A38Z-09 TCGA-RN-AAAQ-10A-01D-A38Z-09 g.chrX:119694212G>T c.336C>A c.(334-336)caC>caA p.H112Q SKCM 23 119664110 119664110 + Splice_Site SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chrX:119664110C>T c.e21-1 SKCM 23 119672015 119672015 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:119672015C>A c.1956G>T c.(1954-1956)atG>atT p.M652I SKCM 23 119674287 119674287 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:119674287G>A c.1628C>T c.(1627-1629)gCc>gTc p.A543V SKCM 23 119675486 119675486 + Missense_Mutation SNP G G A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:119675486G>A c.1468C>T c.(1468-1470)Ctt>Ttt p.L490F SKCM 23 119675558 119675558 + Missense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chrX:119675558C>A c.1396G>T c.(1396-1398)Gat>Tat p.D466Y SKCM 23 119678367 119678367 + Missense_Mutation SNP C C T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 g.chrX:119678367C>T c.1106G>A c.(1105-1107)cGa>cAa p.R369Q SKCM 23 119680416 119680416 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chrX:119680416G>A c.886C>T c.(886-888)Cat>Tat p.H296Y SKCM 23 119694132 119694132 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:119694132G>A c.416C>T c.(415-417)tCc>tTc p.S139F SKCM 23 119708441 119708441 + Missense_Mutation SNP C C T TCGA-D3-A2JO-06A-11D-A196-08 TCGA-D3-A2JO-10A-01D-A198-08 g.chrX:119708441C>T c.32G>A c.(31-33)gGg>gAg p.G11E SKCM 23 119708453 119708453 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:119708453C>T c.20G>A c.(19-21)gGa>gAa p.G7E

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 X 119664023 119664023 single base substitution C T downstream_gene_variant BLCA-CN X 119664023 119664023 single base substitution C T missense_variant M842I 2526G>A BLCA-CN X 119664023 119664023 single base substitution C T missense_variant M847I 2541G>A BLCA-CN X 119664023 119664023 single base substitution C T missense_variant M860I 2580G>A BLCA-US X 119669775 119669775 single base substitution G C exon_variant BLCA-US X 119669775 119669775 single base substitution G C missense_variant F690L 2070C>G BLCA-US X 119669775 119669775 single base substitution G C missense_variant F695L 2085C>G BLCA-US X 119669775 119669775 single base substitution G C missense_variant F708L 2124C>G BLCA-US X 119670883 119670883 single base substitution G A exon_variant BLCA-US X 119670883 119670883 single base substitution G A stop_gained Q649* 1945C>T BLCA-US X 119670883 119670883 single base substitution G A stop_gained Q654* 1960C>T BLCA-US X 119670883 119670883 single base substitution G A stop_gained Q667* 1999C>T BLCA-US X 119679350 119679350 deletion of <=200bp A - frameshift_variant L112 BLCA-US X 119679350 119679350 deletion of <=200bp A - frameshift_variant L290 BLCA-US X 119679350 119679350 deletion of <=200bp A - frameshift_variant L295 BLCA-US X 119679350 119679350 deletion of <=200bp A - frameshift_variant L308 BLCA-US X 119694330 119694330 single base substitution C T exon_variant BLCA-US X 119694330 119694330 single base substitution C T missense_variant R55K 164G>A BLCA-US X 119694330 119694330 single base substitution C T missense_variant R60K 179G>A BLCA-US X 119694330 119694330 single base substitution C T missense_variant R73K 218G>A BLCA-US X 119694330 119694330 single base substitution C T upstream_gene_variant BOCA-FR X 119670538 119670538 single base substitution G A intron_variant BRCA-EU X 119656407 119656407 single base substitution G C downstream_gene_variant BRCA-EU X 119657534 119657534 single base substitution A G downstream_gene_variant BRCA-EU X 119658691 119658691 single base substitution G T 3_prime_UTR_variant BRCA-EU X 119658691 119658691 single base substitution G T downstream_gene_variant BRCA-EU X 119659246 119659246 single base substitution C A 3_prime_UTR_variant BRCA-EU X 119659246 119659246 single base substitution C A downstream_gene_variant BRCA-EU X 119660039 119660039 single base substitution A T 3_prime_UTR_variant BRCA-EU X 119660039 119660039 single base substitution A T downstream_gene_variant BRCA-EU X 119660127 119660127 single base substitution G A 3_prime_UTR_variant BRCA-EU X 119660127 119660127 single base substitution G A downstream_gene_variant BRCA-EU X 119660656 119660656 single base substitution C G missense_variant R883T 2648G>C BRCA-EU X 119660656 119660656 single base substitution C G missense_variant R888T 2663G>C BRCA-EU X 119660656 119660656 single base substitution C G missense_variant R901T 2702G>C BRCA-EU X 119660926 119660926 single base substitution T G intron_variant BRCA-EU X 119661642 119661642 single base substitution G C downstream_gene_variant BRCA-EU X 119661642 119661642 single base substitution G C intron_variant BRCA-EU X 119663044 119663044 single base substitution G A downstream_gene_variant BRCA-EU X 119663044 119663044 single base substitution G A intron_variant BRCA-EU X 119663256 119663256 single base substitution A G downstream_gene_variant BRCA-EU X 119663256 119663256 single base substitution A G intron_variant BRCA-EU X 119663741 119663741 single base substitution C A downstream_gene_variant BRCA-EU X 119663741 119663741 single base substitution C A intron_variant BRCA-EU X 119664058 119664058 single base substitution G C downstream_gene_variant BRCA-EU X 119664058 119664058 single base substitution G C missense_variant Q831E 2491C>G BRCA-EU X 119664058 119664058 single base substitution G C missense_variant Q836E 2506C>G BRCA-EU X 119664058 119664058 single base substitution G C missense_variant Q849E 2545C>G BRCA-EU X 119664425 119664425 single base substitution A T downstream_gene_variant BRCA-EU X 119664425 119664425 single base substitution A T intron_variant BRCA-EU X 119665431 119665431 single base substitution C T downstream_gene_variant BRCA-EU X 119665431 119665431 single base substitution C T intron_variant BRCA-EU X 119666313 119666313 single base substitution G T exon_variant BRCA-EU X 119666313 119666313 single base substitution G T missense_variant F801L 2403C>A BRCA-EU X 119666313 119666313 single base substitution G T missense_variant F806L 2418C>A BRCA-EU X 119666313 119666313 single base substitution G T missense_variant F819L 2457C>A BRCA-EU X 119666443 119666443 single base substitution C T exon_variant BRCA-EU X 119666443 119666443 single base substitution C T missense_variant G758E 2273G>A BRCA-EU X 119666443 119666443 single base substitution C T missense_variant G763E 2288G>A BRCA-EU X 119666443 119666443 single base substitution C T missense_variant G776E 2327G>A BRCA-EU X 119666574 119666574 single base substitution C T intron_variant BRCA-EU X 119667698 119667698 single base substitution G A intron_variant BRCA-EU X 119667814 119667814 single base substitution G A intron_variant BRCA-EU X 119668011 119668011 single base substitution G C intron_variant BRCA-EU X 119668223 119668223 single base substitution A G intron_variant BRCA-EU X 119668772 119668772 single base substitution A T intron_variant BRCA-EU X 119668808 119668808 deletion of <=200bp T - intron_variant BRCA-EU X 119671703 119671703 single base substitution A G intron_variant BRCA-EU X 119671945 119671945 single base substitution A C intron_variant BRCA-EU X 119671965 119671965 single base substitution T G intron_variant BRCA-EU X 119672652 119672652 single base substitution T A downstream_gene_variant BRCA-EU X 119672652 119672652 single base substitution T A intron_variant BRCA-EU X 119672652 119672652 single base substitution T A upstream_gene_variant BRCA-EU X 119673141 119673141 single base substitution T C downstream_gene_variant BRCA-EU X 119673141 119673141 single base substitution T C missense_variant I575V 1723A>G BRCA-EU X 119673141 119673141 single base substitution T C missense_variant I580V 1738A>G BRCA-EU X 119673141 119673141 single base substitution T C missense_variant I593V 1777A>G BRCA-EU X 119673141 119673141 single base substitution T C upstream_gene_variant BRCA-EU X 119673282 119673282 single base substitution G C downstream_gene_variant BRCA-EU X 119673282 119673282 single base substitution G C intron_variant BRCA-EU X 119673282 119673282 single base substitution G C upstream_gene_variant BRCA-EU X 119673379 119673379 single base substitution C G downstream_gene_variant BRCA-EU X 119673379 119673379 single base substitution C G intron_variant BRCA-EU X 119673379 119673379 single base substitution C G upstream_gene_variant BRCA-EU X 119673444 119673444 single base substitution G C downstream_gene_variant BRCA-EU X 119673444 119673444 single base substitution G C intron_variant BRCA-EU X 119673444 119673444 single base substitution G C upstream_gene_variant BRCA-EU X 119674830 119674830 single base substitution G C downstream_gene_variant BRCA-EU X 119674830 119674830 single base substitution G C intron_variant BRCA-EU X 119674830 119674830 single base substitution G C upstream_gene_variant BRCA-EU X 119675540 119675540 single base substitution C T downstream_gene_variant BRCA-EU X 119675540 119675540 single base substitution C T missense_variant D454N 1360G>A BRCA-EU X 119675540 119675540 single base substitution C T missense_variant D459N 1375G>A BRCA-EU X 119675540 119675540 single base substitution C T missense_variant D472N 1414G>A BRCA-EU X 119675540 119675540 single base substitution C T upstream_gene_variant BRCA-EU X 119675990 119675990 single base substitution G T downstream_gene_variant BRCA-EU X 119675990 119675990 single base substitution G T intron_variant BRCA-EU X 119675990 119675990 single base substitution G T upstream_gene_variant BRCA-EU X 119676004 119676004 single base substitution G A downstream_gene_variant BRCA-EU X 119676004 119676004 single base substitution G A intron_variant BRCA-EU X 119676004 119676004 single base substitution G A upstream_gene_variant BRCA-EU X 119676448 119676448 single base substitution G C downstream_gene_variant BRCA-EU X 119676448 119676448 single base substitution G C intron_variant BRCA-EU X 119676448 119676448 single base substitution G C upstream_gene_variant BRCA-EU X 119676459 119676459 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 119676459 119676459 deletion of <=200bp T - intron_variant BRCA-EU X 119676459 119676459 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 119677091 119677091 single base substitution A T downstream_gene_variant BRCA-EU X 119677091 119677091 single base substitution A T intron_variant BRCA-EU X 119677091 119677091 single base substitution A T upstream_gene_variant BRCA-EU X 119678150 119678150 single base substitution T A intron_variant BRCA-EU X 119678281 119678281 deletion of <=200bp A - intron_variant BRCA-EU X 119678598 119678598 single base substitution C T intron_variant BRCA-EU X 119678608 119678608 single base substitution G A intron_variant BRCA-EU X 119679891 119679891 deletion of <=200bp A - intron_variant BRCA-EU X 119680376 119680376 single base substitution G C intron_variant BRCA-EU X 119681786 119681786 single base substitution G A intron_variant BRCA-EU X 119682527 119682527 single base substitution A G intron_variant BRCA-EU X 119683037 119683037 single base substitution G A intron_variant BRCA-EU X 119683960 119683960 single base substitution C G intron_variant BRCA-EU X 119686511 119686511 deletion of <=200bp A - intron_variant BRCA-EU X 119686511 119686511 insertion of <=200bp - A intron_variant BRCA-EU X 119686616 119686616 single base substitution G A intron_variant BRCA-EU X 119687352 119687352 single base substitution T C downstream_gene_variant BRCA-EU X 119687352 119687352 single base substitution T C intron_variant BRCA-EU X 119689043 119689043 deletion of <=200bp G - downstream_gene_variant BRCA-EU X 119689043 119689043 deletion of <=200bp G - intron_variant BRCA-EU X 119690037 119690037 single base substitution T A downstream_gene_variant BRCA-EU X 119690037 119690037 single base substitution T A intron_variant BRCA-EU X 119690084 119690084 single base substitution A G downstream_gene_variant BRCA-EU X 119690084 119690084 single base substitution A G intron_variant BRCA-EU X 119691750 119691750 single base substitution C G downstream_gene_variant BRCA-EU X 119691750 119691750 single base substitution C G intron_variant BRCA-EU X 119691979 119691979 single base substitution T A intron_variant BRCA-EU X 119692574 119692574 single base substitution C T intron_variant BRCA-EU X 119692883 119692883 deletion of <=200bp A - intron_variant BRCA-EU X 119693263 119693263 single base substitution G T intron_variant BRCA-EU X 119693585 119693585 single base substitution C T intron_variant BRCA-EU X 119693877 119693877 single base substitution G T intron_variant BRCA-EU X 119693877 119693877 single base substitution G T upstream_gene_variant BRCA-EU X 119694319 119694319 single base substitution C T exon_variant BRCA-EU X 119694319 119694319 single base substitution C T missense_variant D59N 175G>A BRCA-EU X 119694319 119694319 single base substitution C T missense_variant D64N 190G>A BRCA-EU X 119694319 119694319 single base substitution C T missense_variant D77N 229G>A BRCA-EU X 119694319 119694319 single base substitution C T upstream_gene_variant BRCA-EU X 119695769 119695769 single base substitution C G intron_variant BRCA-EU X 119695769 119695769 single base substitution C G upstream_gene_variant BRCA-EU X 119698461 119698461 insertion of <=200bp - A intron_variant BRCA-EU X 119698461 119698461 insertion of <=200bp - A upstream_gene_variant BRCA-EU X 119699745 119699745 single base substitution T C intron_variant BRCA-EU X 119699745 119699745 single base substitution T C upstream_gene_variant BRCA-EU X 119700283 119700283 single base substitution G A downstream_gene_variant BRCA-EU X 119700283 119700283 single base substitution G A intron_variant BRCA-EU X 119700283 119700283 single base substitution G A upstream_gene_variant BRCA-EU X 119700485 119700485 single base substitution C T downstream_gene_variant BRCA-EU X 119700485 119700485 single base substitution C T intron_variant BRCA-EU X 119700555 119700555 single base substitution T A downstream_gene_variant BRCA-EU X 119700555 119700555 single base substitution T A intron_variant BRCA-EU X 119702719 119702719 single base substitution T C downstream_gene_variant BRCA-EU X 119702719 119702719 single base substitution T C intron_variant BRCA-EU X 119703152 119703188 deletion of <=200bp ATGTAGGTTTAGAGCTATCCCTAAATGCCCAACTTTT - downstream_gene_variant BRCA-EU X 119703152 119703188 deletion of <=200bp ATGTAGGTTTAGAGCTATCCCTAAATGCCCAACTTTT - intron_variant BRCA-EU X 119703573 119703573 single base substitution G C downstream_gene_variant BRCA-EU X 119703573 119703573 single base substitution G C intron_variant BRCA-EU X 119705029 119705029 single base substitution G A downstream_gene_variant BRCA-EU X 119705029 119705029 single base substitution G A intron_variant BRCA-EU X 119705159 119705159 single base substitution G T exon_variant BRCA-EU X 119705159 119705159 single base substitution G T intron_variant BRCA-EU X 119707114 119707114 single base substitution G C intron_variant BRCA-EU X 119707381 119707381 single base substitution C T intron_variant BRCA-EU X 119707735 119707735 single base substitution A T intron_variant BRCA-EU X 119707826 119707826 single base substitution G A intron_variant BRCA-EU X 119708008 119708008 single base substitution G A intron_variant BRCA-EU X 119709428 119709428 single base substitution T C 5_prime_UTR_variant BRCA-EU X 119709428 119709428 single base substitution T C upstream_gene_variant BRCA-EU X 119710002 119710002 single base substitution T C upstream_gene_variant BRCA-EU X 119710050 119710050 insertion of <=200bp - AT upstream_gene_variant BRCA-EU X 119710074 119710074 single base substitution T C upstream_gene_variant BRCA-EU X 119710384 119710384 single base substitution T G upstream_gene_variant BRCA-EU X 119711181 119711181 single base substitution G T upstream_gene_variant BRCA-EU X 119712414 119712414 single base substitution G C upstream_gene_variant BRCA-EU X 119712924 119712924 single base substitution G C upstream_gene_variant BRCA-EU X 119713624 119713624 single base substitution C G upstream_gene_variant BRCA-EU X 119714026 119714026 single base substitution T C upstream_gene_variant BRCA-FR X 119654722 119654722 single base substitution G T downstream_gene_variant BRCA-FR X 119660656 119660656 single base substitution C G missense_variant R883T 2648G>C BRCA-FR X 119660656 119660656 single base substitution C G missense_variant R888T 2663G>C BRCA-FR X 119660656 119660656 single base substitution C G missense_variant R901T 2702G>C BRCA-FR X 119669331 119669331 single base substitution G A intron_variant BRCA-FR X 119673444 119673444 single base substitution G C downstream_gene_variant BRCA-FR X 119673444 119673444 single base substitution G C intron_variant BRCA-FR X 119673444 119673444 single base substitution G C upstream_gene_variant BRCA-FR X 119676448 119676448 single base substitution G C downstream_gene_variant BRCA-FR X 119676448 119676448 single base substitution G C intron_variant BRCA-FR X 119676448 119676448 single base substitution G C upstream_gene_variant BRCA-FR X 119679324 119679324 single base substitution G A stop_gained Q121* 361C>T BRCA-FR X 119679324 119679324 single base substitution G A stop_gained Q299* 895C>T BRCA-FR X 119679324 119679324 single base substitution G A stop_gained Q304* 910C>T BRCA-FR X 119679324 119679324 single base substitution G A stop_gained Q317* 949C>T BRCA-FR X 119684074 119684074 single base substitution T C intron_variant BRCA-FR X 119693263 119693263 single base substitution G T intron_variant BRCA-FR X 119693585 119693585 single base substitution C T intron_variant BRCA-FR X 119693659 119693659 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR X 119693659 119693659 single base substitution G A intron_variant BRCA-FR X 119700283 119700283 single base substitution G A downstream_gene_variant BRCA-FR X 119700283 119700283 single base substitution G A intron_variant BRCA-FR X 119700283 119700283 single base substitution G A upstream_gene_variant BRCA-FR X 119705029 119705029 single base substitution G A downstream_gene_variant BRCA-FR X 119705029 119705029 single base substitution G A intron_variant BRCA-FR X 119707114 119707114 single base substitution G C intron_variant BRCA-FR X 119710002 119710002 single base substitution T C upstream_gene_variant BRCA-UK X 119663753 119663753 single base substitution G T downstream_gene_variant BRCA-UK X 119663753 119663753 single base substitution G T intron_variant BRCA-UK X 119663965 119663965 single base substitution G T downstream_gene_variant BRCA-UK X 119663965 119663965 single base substitution G T missense_variant P862T 2584C>A BRCA-UK X 119663965 119663965 single base substitution G T missense_variant P867T 2599C>A BRCA-UK X 119663965 119663965 single base substitution G T missense_variant P880T 2638C>A BRCA-UK X 119680994 119680994 single base substitution C G missense_variant R258T 773G>C BRCA-UK X 119680994 119680994 single base substitution C G missense_variant R263T 788G>C BRCA-UK X 119680994 119680994 single base substitution C G missense_variant R276T 827G>C BRCA-UK X 119680994 119680994 single base substitution C G missense_variant R80T 239G>C BRCA-UK X 119704820 119704820 single base substitution G A downstream_gene_variant BRCA-UK X 119704820 119704820 single base substitution G A intron_variant BRCA-US X 119660675 119660675 single base substitution C T missense_variant D877N 2629G>A BRCA-US X 119660675 119660675 single base substitution C T missense_variant D882N 2644G>A BRCA-US X 119660675 119660675 single base substitution C T missense_variant D895N 2683G>A BRCA-US X 119673224 119673224 single base substitution T A downstream_gene_variant BRCA-US X 119673224 119673224 single base substitution T A missense_variant K547M 1640A>T BRCA-US X 119673224 119673224 single base substitution T A missense_variant K552M 1655A>T BRCA-US X 119673224 119673224 single base substitution T A missense_variant K565M 1694A>T BRCA-US X 119673224 119673224 single base substitution T A upstream_gene_variant BRCA-US X 119678367 119678367 single base substitution C T missense_variant R173Q 518G>A BRCA-US X 119678367 119678367 single base substitution C T missense_variant R351Q 1052G>A BRCA-US X 119678367 119678367 single base substitution C T missense_variant R356Q 1067G>A BRCA-US X 119678367 119678367 single base substitution C T missense_variant R369Q 1106G>A BRCA-US X 119678470 119678470 single base substitution G A missense_variant H139Y 415C>T BRCA-US X 119678470 119678470 single base substitution G A missense_variant H317Y 949C>T BRCA-US X 119678470 119678470 single base substitution G A missense_variant H322Y 964C>T BRCA-US X 119678470 119678470 single base substitution G A missense_variant H335Y 1003C>T BRCA-US X 119679331 119679331 single base substitution G T stop_gained Y118* 354C>A BRCA-US X 119679331 119679331 single base substitution G T stop_gained Y296* 888C>A BRCA-US X 119679331 119679331 single base substitution G T stop_gained Y301* 903C>A BRCA-US X 119679331 119679331 single base substitution G T stop_gained Y314* 942C>A BRCA-US X 119691821 119691821 single base substitution C A exon_variant BRCA-US X 119691821 119691821 single base substitution C A missense_variant Q210H 630G>T BRCA-US X 119691821 119691821 single base substitution C A missense_variant Q215H 645G>T BRCA-US X 119691821 119691821 single base substitution C A missense_variant Q228H 684G>T BRCA-US X 119691821 119691821 single base substitution C A missense_variant Q32H 96G>T BRCA-US X 119691862 119691862 single base substitution C T exon_variant BRCA-US X 119691862 119691862 single base substitution C T missense_variant E197K 589G>A BRCA-US X 119691862 119691862 single base substitution C T missense_variant E19K 55G>A BRCA-US X 119691862 119691862 single base substitution C T missense_variant E202K 604G>A BRCA-US X 119691862 119691862 single base substitution C T missense_variant E215K 643G>A BRCA-US X 119694135 119694135 single base substitution G C exon_variant BRCA-US X 119694135 119694135 single base substitution G C missense_variant S120C 359C>G BRCA-US X 119694135 119694135 single base substitution G C missense_variant S125C 374C>G BRCA-US X 119694135 119694135 single base substitution G C missense_variant S138C 413C>G BRCA-US X 119694135 119694135 single base substitution G C upstream_gene_variant BTCA-JP X 119666360 119666360 single base substitution C T exon_variant BTCA-JP X 119666360 119666360 single base substitution C T missense_variant D786N 2356G>A BTCA-JP X 119666360 119666360 single base substitution C T missense_variant D791N 2371G>A BTCA-JP X 119666360 119666360 single base substitution C T missense_variant D804N 2410G>A BTCA-JP X 119669581 119669581 single base substitution A G intron_variant BTCA-JP X 119676897 119676897 deletion of <=200bp A - downstream_gene_variant BTCA-JP X 119676897 119676897 deletion of <=200bp A - intron_variant BTCA-JP X 119676897 119676897 deletion of <=200bp A - upstream_gene_variant BTCA-JP X 119676964 119676964 deletion of <=200bp A - downstream_gene_variant BTCA-JP X 119676964 119676964 deletion of <=200bp A - intron_variant BTCA-JP X 119676964 119676964 deletion of <=200bp A - upstream_gene_variant BTCA-JP X 119693875 119693875 single base substitution G A intron_variant BTCA-JP X 119693875 119693875 single base substitution G A upstream_gene_variant BTCA-JP X 119695283 119695283 single base substitution C G 5_prime_UTR_variant BTCA-JP X 119695283 119695283 single base substitution C G intron_variant BTCA-JP X 119695283 119695283 single base substitution C G upstream_gene_variant BTCA-JP X 119708503 119708503 single base substitution G T intron_variant CESC-US X 119674274 119674274 single base substitution T G downstream_gene_variant CESC-US X 119674274 119674274 single base substitution T G synonymous_variant A529A 1587A>C CESC-US X 119674274 119674274 single base substitution T G synonymous_variant A534A 1602A>C CESC-US X 119674274 119674274 single base substitution T G synonymous_variant A547A 1641A>C CESC-US X 119674274 119674274 single base substitution T G upstream_gene_variant CESC-US X 119678052 119678052 single base substitution G C missense_variant Q186E 556C>G CESC-US X 119678052 119678052 single base substitution G C missense_variant Q364E 1090C>G CESC-US X 119678052 119678052 single base substitution G C missense_variant Q369E 1105C>G CESC-US X 119678052 119678052 single base substitution G C missense_variant Q382E 1144C>G CESC-US X 119678348 119678348 single base substitution C G synonymous_variant L179L 537G>C CESC-US X 119678348 119678348 single base substitution C G synonymous_variant L357L 1071G>C CESC-US X 119678348 119678348 single base substitution C G synonymous_variant L362L 1086G>C CESC-US X 119678348 119678348 single base substitution C G synonymous_variant L375L 1125G>C CESC-US X 119694468 119694468 single base substitution G T exon_variant CESC-US X 119694468 119694468 single base substitution G T missense_variant P14H 41C>A CESC-US X 119694468 119694468 single base substitution G T missense_variant P27H 80C>A CESC-US X 119694468 119694468 single base substitution G T missense_variant P9H 26C>A CESC-US X 119694468 119694468 single base substitution G T upstream_gene_variant CLLE-ES X 119668870 119668872 deletion of <=200bp CAA - intron_variant CLLE-ES X 119668993 119668993 single base substitution T C intron_variant CLLE-ES X 119676498 119676498 single base substitution C T downstream_gene_variant CLLE-ES X 119676498 119676498 single base substitution C T intron_variant CLLE-ES X 119676498 119676498 single base substitution C T upstream_gene_variant CLLE-ES X 119677533 119677533 single base substitution G A downstream_gene_variant CLLE-ES X 119677533 119677533 single base substitution G A intron_variant CLLE-ES X 119680307 119680307 single base substitution G T intron_variant CLLE-ES X 119686584 119686584 single base substitution T C intron_variant CLLE-ES X 119711472 119711472 single base substitution T G upstream_gene_variant CLLE-ES X 119714489 119714489 single base substitution C A upstream_gene_variant COAD-US X 119666399 119666399 single base substitution T C exon_variant COAD-US X 119666399 119666399 single base substitution T C missense_variant R773G 2317A>G COAD-US X 119666399 119666399 single base substitution T C missense_variant R778G 2332A>G COAD-US X 119666399 119666399 single base substitution T C missense_variant R791G 2371A>G COAD-US X 119678361 119678361 single base substitution A T missense_variant L175H 524T>A COAD-US X 119678361 119678361 single base substitution A T missense_variant L353H 1058T>A COAD-US X 119678361 119678361 single base substitution A T missense_variant L358H 1073T>A COAD-US X 119678361 119678361 single base substitution A T missense_variant L371H 1112T>A COCA-CN X 119668222 119668222 single base substitution G A intron_variant COCA-CN X 119668223 119668223 single base substitution A G intron_variant COCA-CN X 119669581 119669581 single base substitution A G intron_variant COCA-CN X 119669592 119669592 single base substitution C A intron_variant COCA-CN X 119669599 119669599 single base substitution C A intron_variant COCA-CN X 119669602 119669602 single base substitution T A intron_variant COCA-CN X 119669622 119669622 single base substitution G A intron_variant COCA-CN X 119673166 119673166 single base substitution C A downstream_gene_variant COCA-CN X 119673166 119673166 single base substitution C A missense_variant E566D 1698G>T COCA-CN X 119673166 119673166 single base substitution C A missense_variant E571D 1713G>T COCA-CN X 119673166 119673166 single base substitution C A missense_variant E584D 1752G>T COCA-CN X 119673166 119673166 single base substitution C A upstream_gene_variant COCA-CN X 119678305 119678305 single base substitution C A intron_variant COCA-CN X 119691790 119691790 single base substitution C A exon_variant COCA-CN X 119691790 119691790 single base substitution C A stop_gained E221* 661G>T COCA-CN X 119691790 119691790 single base substitution C A stop_gained E226* 676G>T COCA-CN X 119691790 119691790 single base substitution C A stop_gained E239* 715G>T COCA-CN X 119691790 119691790 single base substitution C A stop_gained E43* 127G>T COCA-CN X 119693658 119693658 single base substitution C T 5_prime_UTR_variant COCA-CN X 119693658 119693658 single base substitution C T intron_variant COCA-CN X 119693709 119693709 single base substitution G T 5_prime_UTR_variant COCA-CN X 119693709 119693709 single base substitution G T intron_variant COCA-CN X 119693855 119693855 single base substitution T G intron_variant COCA-CN X 119693855 119693855 single base substitution T G upstream_gene_variant COCA-CN X 119695228 119695228 single base substitution G A intron_variant COCA-CN X 119695228 119695228 single base substitution G A splice_region_variant COCA-CN X 119695228 119695228 single base substitution G A upstream_gene_variant COCA-CN X 119708503 119708503 single base substitution G T intron_variant EOPC-DE X 119654419 119654419 single base substitution C T downstream_gene_variant ESCA-CN X 119658773 119658773 single base substitution T A 3_prime_UTR_variant ESCA-CN X 119658773 119658773 single base substitution T A downstream_gene_variant ESCA-CN X 119663809 119663809 single base substitution G T downstream_gene_variant ESCA-CN X 119663809 119663809 single base substitution G T intron_variant ESCA-CN X 119664036 119664036 single base substitution C T downstream_gene_variant ESCA-CN X 119664036 119664036 single base substitution C T missense_variant R838Q 2513G>A ESCA-CN X 119664036 119664036 single base substitution C T missense_variant R843Q 2528G>A ESCA-CN X 119664036 119664036 single base substitution C T missense_variant R856Q 2567G>A ESCA-CN X 119664058 119664058 single base substitution G A downstream_gene_variant ESCA-CN X 119664058 119664058 single base substitution G A stop_gained Q831* 2491C>T ESCA-CN X 119664058 119664058 single base substitution G A stop_gained Q836* 2506C>T ESCA-CN X 119664058 119664058 single base substitution G A stop_gained Q849* 2545C>T ESCA-CN X 119677683 119677683 single base substitution A C intron_variant ESCA-CN X 119681040 119681040 single base substitution T A stop_gained R243* 727A>T ESCA-CN X 119681040 119681040 single base substitution T A stop_gained R248* 742A>T ESCA-CN X 119681040 119681040 single base substitution T A stop_gained R261* 781A>T ESCA-CN X 119681040 119681040 single base substitution T A stop_gained R65* 193A>T KIRC-US X 119694026 119694026 single base substitution G T exon_variant KIRC-US X 119694026 119694026 single base substitution G T missense_variant N156K 468C>A KIRC-US X 119694026 119694026 single base substitution G T missense_variant N161K 483C>A KIRC-US X 119694026 119694026 single base substitution G T missense_variant N174K 522C>A KIRC-US X 119694026 119694026 single base substitution G T upstream_gene_variant LAML-KR X 119669584 119669584 single base substitution G A intron_variant LAML-KR X 119675259 119675259 single base substitution C A downstream_gene_variant LAML-KR X 119675259 119675259 single base substitution C A intron_variant LAML-KR X 119675259 119675259 single base substitution C A upstream_gene_variant LGG-US X 119669687 119669687 single base substitution C G missense_variant E720Q 2158G>C LGG-US X 119669687 119669687 single base substitution C G missense_variant E725Q 2173G>C LGG-US X 119669687 119669687 single base substitution C G missense_variant E738Q 2212G>C LGG-US X 119669687 119669687 single base substitution C G splice_region_variant LGG-US X 119678463 119678465 deletion of <=200bp ATA - disruptive_inframe_deletion II140I LGG-US X 119678463 119678465 deletion of <=200bp ATA - disruptive_inframe_deletion II318I LGG-US X 119678463 119678465 deletion of <=200bp ATA - disruptive_inframe_deletion II323I LGG-US X 119678463 119678465 deletion of <=200bp ATA - disruptive_inframe_deletion II336I LICA-FR X 119669584 119669584 single base substitution G A intron_variant LICA-FR X 119669746 119669746 single base substitution C T exon_variant LICA-FR X 119669746 119669746 single base substitution C T missense_variant G700D 2099G>A LICA-FR X 119669746 119669746 single base substitution C T missense_variant G705D 2114G>A LICA-FR X 119669746 119669746 single base substitution C T missense_variant G718D 2153G>A LICA-FR X 119678454 119678454 single base substitution T C missense_variant Q144R 431A>G LICA-FR X 119678454 119678454 single base substitution T C missense_variant Q322R 965A>G LICA-FR X 119678454 119678454 single base substitution T C missense_variant Q327R 980A>G LICA-FR X 119678454 119678454 single base substitution T C missense_variant Q340R 1019A>G LICA-FR X 119694387 119694387 single base substitution G A exon_variant LICA-FR X 119694387 119694387 single base substitution G A missense_variant A36V 107C>T LICA-FR X 119694387 119694387 single base substitution G A missense_variant A41V 122C>T LICA-FR X 119694387 119694387 single base substitution G A missense_variant A54V 161C>T LICA-FR X 119694387 119694387 single base substitution G A upstream_gene_variant LICA-FR X 119707201 119707201 single base substitution A T intron_variant LIHC-US X 119669737 119669737 single base substitution A C exon_variant LIHC-US X 119669737 119669737 single base substitution A C missense_variant L703R 2108T>G LIHC-US X 119669737 119669737 single base substitution A C missense_variant L708R 2123T>G LIHC-US X 119669737 119669737 single base substitution A C missense_variant L721R 2162T>G LINC-JP X 119666475 119666475 deletion of <=200bp A - intron_variant LINC-JP X 119678195 119678195 single base substitution T C intron_variant LINC-JP X 119683464 119683464 single base substitution C T intron_variant LINC-JP X 119688866 119688866 deletion of <=200bp A - downstream_gene_variant LINC-JP X 119688866 119688866 deletion of <=200bp A - intron_variant LINC-JP X 119694323 119694323 single base substitution G A exon_variant LINC-JP X 119694323 119694323 single base substitution G A synonymous_variant D57D 171C>T LINC-JP X 119694323 119694323 single base substitution G A synonymous_variant D62D 186C>T LINC-JP X 119694323 119694323 single base substitution G A synonymous_variant D75D 225C>T LINC-JP X 119694323 119694323 single base substitution G A upstream_gene_variant LINC-JP X 119702844 119702844 single base substitution T C downstream_gene_variant LINC-JP X 119702844 119702844 single base substitution T C intron_variant LIRI-JP X 119653627 119653627 single base substitution C A downstream_gene_variant LIRI-JP X 119653642 119653642 single base substitution C G downstream_gene_variant LIRI-JP X 119661125 119661125 single base substitution C A intron_variant LIRI-JP X 119663522 119663522 single base substitution G A downstream_gene_variant LIRI-JP X 119663522 119663522 single base substitution G A intron_variant LIRI-JP X 119664809 119664809 single base substitution A G downstream_gene_variant LIRI-JP X 119664809 119664809 single base substitution A G intron_variant LIRI-JP X 119665043 119665043 single base substitution C T downstream_gene_variant LIRI-JP X 119665043 119665043 single base substitution C T intron_variant LIRI-JP X 119666732 119666732 single base substitution G A intron_variant LIRI-JP X 119666986 119666986 single base substitution C T intron_variant LIRI-JP X 119667160 119667160 single base substitution T A intron_variant LIRI-JP X 119667553 119667553 single base substitution T C intron_variant LIRI-JP X 119670114 119670114 single base substitution G T intron_variant LIRI-JP X 119670400 119670400 single base substitution G T intron_variant LIRI-JP X 119670859 119670859 single base substitution T C exon_variant LIRI-JP X 119670859 119670859 single base substitution T C missense_variant I657V 1969A>G LIRI-JP X 119670859 119670859 single base substitution T C missense_variant I662V 1984A>G LIRI-JP X 119670859 119670859 single base substitution T C missense_variant I675V 2023A>G LIRI-JP X 119675280 119675280 single base substitution G C downstream_gene_variant LIRI-JP X 119675280 119675280 single base substitution G C intron_variant LIRI-JP X 119675280 119675280 single base substitution G C upstream_gene_variant LIRI-JP X 119677790 119677790 single base substitution T C intron_variant LIRI-JP X 119677968 119677968 single base substitution C A splice_donor_variant LIRI-JP X 119678417 119678417 single base substitution G C synonymous_variant L156L 468C>G LIRI-JP X 119678417 119678417 single base substitution G C synonymous_variant L334L 1002C>G LIRI-JP X 119678417 119678417 single base substitution G C synonymous_variant L339L 1017C>G LIRI-JP X 119678417 119678417 single base substitution G C synonymous_variant L352L 1056C>G LIRI-JP X 119678494 119678494 single base substitution T C missense_variant M131V 391A>G LIRI-JP X 119678494 119678494 single base substitution T C missense_variant M309V 925A>G LIRI-JP X 119678494 119678494 single base substitution T C missense_variant M314V 940A>G LIRI-JP X 119678494 119678494 single base substitution T C missense_variant M327V 979A>G LIRI-JP X 119678892 119678892 single base substitution T C intron_variant LIRI-JP X 119680106 119680106 single base substitution G A intron_variant LIRI-JP X 119682620 119682620 single base substitution T G intron_variant LIRI-JP X 119683406 119683406 single base substitution A G intron_variant LIRI-JP X 119684859 119684859 single base substitution G C intron_variant LIRI-JP X 119687300 119687300 single base substitution A C downstream_gene_variant LIRI-JP X 119687300 119687300 single base substitution A C intron_variant LIRI-JP X 119687512 119687512 single base substitution A G downstream_gene_variant LIRI-JP X 119687512 119687512 single base substitution A G intron_variant LIRI-JP X 119688261 119688261 single base substitution G A downstream_gene_variant LIRI-JP X 119688261 119688261 single base substitution G A intron_variant LIRI-JP X 119688487 119688487 single base substitution T C downstream_gene_variant LIRI-JP X 119688487 119688487 single base substitution T C intron_variant LIRI-JP X 119690768 119690768 deletion of <=200bp A - downstream_gene_variant LIRI-JP X 119690768 119690768 deletion of <=200bp A - intron_variant LIRI-JP X 119691819 119691819 single base substitution T C exon_variant LIRI-JP X 119691819 119691819 single base substitution T C missense_variant N211S 632A>G LIRI-JP X 119691819 119691819 single base substitution T C missense_variant N216S 647A>G LIRI-JP X 119691819 119691819 single base substitution T C missense_variant N229S 686A>G LIRI-JP X 119691819 119691819 single base substitution T C missense_variant N33S 98A>G LIRI-JP X 119693148 119693148 single base substitution T C intron_variant LIRI-JP X 119698759 119698759 deletion of <=200bp A - intron_variant LIRI-JP X 119698759 119698759 deletion of <=200bp A - upstream_gene_variant LIRI-JP X 119700542 119700542 single base substitution G A downstream_gene_variant LIRI-JP X 119700542 119700542 single base substitution G A intron_variant LIRI-JP X 119703155 119703155 single base substitution T G downstream_gene_variant LIRI-JP X 119703155 119703155 single base substitution T G intron_variant LIRI-JP X 119705595 119705595 single base substitution T C exon_variant LIRI-JP X 119705595 119705595 single base substitution T C intron_variant LIRI-JP X 119708212 119708212 single base substitution C G intron_variant LIRI-JP X 119709167 119709167 single base substitution C A intron_variant LIRI-JP X 119711040 119711040 single base substitution T G upstream_gene_variant LIRI-JP X 119712135 119712135 single base substitution T C upstream_gene_variant LIRI-JP X 119713721 119713721 single base substitution T G upstream_gene_variant LUSC-KR X 119654227 119654227 single base substitution C T downstream_gene_variant LUSC-KR X 119658790 119658790 single base substitution G C 3_prime_UTR_variant LUSC-KR X 119658790 119658790 single base substitution G C downstream_gene_variant LUSC-KR X 119658806 119658806 single base substitution T C 3_prime_UTR_variant LUSC-KR X 119658806 119658806 single base substitution T C downstream_gene_variant LUSC-KR X 119667408 119667408 single base substitution C T intron_variant LUSC-KR X 119675354 119675354 single base substitution C A downstream_gene_variant LUSC-KR X 119675354 119675354 single base substitution C A intron_variant LUSC-KR X 119675354 119675354 single base substitution C A upstream_gene_variant LUSC-KR X 119685017 119685017 single base substitution C T intron_variant LUSC-KR X 119696663 119696663 single base substitution G T intron_variant LUSC-KR X 119696663 119696663 single base substitution G T upstream_gene_variant LUSC-KR X 119698802 119698802 single base substitution A G intron_variant LUSC-KR X 119698802 119698802 single base substitution A G upstream_gene_variant LUSC-KR X 119702101 119702101 single base substitution G A downstream_gene_variant LUSC-KR X 119702101 119702101 single base substitution G A intron_variant LUSC-KR X 119707394 119707394 single base substitution C T intron_variant LUSC-KR X 119708021 119708021 single base substitution A T intron_variant LUSC-US X 119660631 119660631 single base substitution G T stop_gained Y891* 2673C>A LUSC-US X 119660631 119660631 single base substitution G T stop_gained Y896* 2688C>A LUSC-US X 119660631 119660631 single base substitution G T stop_gained Y909* 2727C>A LUSC-US X 119664005 119664005 single base substitution G T downstream_gene_variant LUSC-US X 119664005 119664005 single base substitution G T missense_variant H848Q 2544C>A LUSC-US X 119664005 119664005 single base substitution G T missense_variant H853Q 2559C>A LUSC-US X 119664005 119664005 single base substitution G T missense_variant H866Q 2598C>A LUSC-US X 119680457 119680457 single base substitution C A missense_variant S264I 791G>T LUSC-US X 119680457 119680457 single base substitution C A missense_variant S269I 806G>T LUSC-US X 119680457 119680457 single base substitution C A missense_variant S282I 845G>T LUSC-US X 119680457 119680457 single base substitution C A missense_variant S86I 257G>T LUSC-US X 119693974 119693974 single base substitution C G exon_variant LUSC-US X 119693974 119693974 single base substitution C G missense_variant G174R 520G>C LUSC-US X 119693974 119693974 single base substitution C G missense_variant G179R 535G>C LUSC-US X 119693974 119693974 single base substitution C G missense_variant G192R 574G>C LUSC-US X 119693974 119693974 single base substitution C G upstream_gene_variant LUSC-US X 119694097 119694097 single base substitution T A exon_variant LUSC-US X 119694097 119694097 single base substitution T A missense_variant T133S 397A>T LUSC-US X 119694097 119694097 single base substitution T A missense_variant T138S 412A>T LUSC-US X 119694097 119694097 single base substitution T A missense_variant T151S 451A>T LUSC-US X 119694097 119694097 single base substitution T A upstream_gene_variant MALY-DE X 119655961 119655961 insertion of <=200bp - TA downstream_gene_variant MALY-DE X 119655961 119655962 deletion of <=200bp TA - downstream_gene_variant MALY-DE X 119657243 119657243 single base substitution A G downstream_gene_variant MALY-DE X 119678538 119678538 single base substitution T A intron_variant MALY-DE X 119678859 119678859 single base substitution A T intron_variant MALY-DE X 119679130 119679130 deletion of <=200bp T - intron_variant MALY-DE X 119679595 119679595 single base substitution C T intron_variant MALY-DE X 119679968 119679968 single base substitution A C intron_variant MALY-DE X 119679985 119679985 single base substitution G A intron_variant MALY-DE X 119694378 119694378 single base substitution C A exon_variant MALY-DE X 119694378 119694378 single base substitution C A missense_variant R39I 116G>T MALY-DE X 119694378 119694378 single base substitution C A missense_variant R44I 131G>T MALY-DE X 119694378 119694378 single base substitution C A missense_variant R57I 170G>T MALY-DE X 119694378 119694378 single base substitution C A upstream_gene_variant MALY-DE X 119695013 119695013 single base substitution G A exon_variant MALY-DE X 119695013 119695013 single base substitution G A intron_variant MALY-DE X 119695013 119695013 single base substitution G A upstream_gene_variant MALY-DE X 119701859 119701859 single base substitution G A downstream_gene_variant MALY-DE X 119701859 119701859 single base substitution G A intron_variant MALY-DE X 119702031 119702031 single base substitution G A downstream_gene_variant MALY-DE X 119702031 119702031 single base substitution G A intron_variant MELA-AU X 119653641 119653641 single base substitution C T downstream_gene_variant MELA-AU X 119654286 119654286 single base substitution G A downstream_gene_variant MELA-AU X 119654454 119654454 single base substitution G A downstream_gene_variant MELA-AU X 119655621 119655621 single base substitution G A downstream_gene_variant MELA-AU X 119655645 119655645 single base substitution G A downstream_gene_variant MELA-AU X 119656847 119656847 single base substitution C T downstream_gene_variant MELA-AU X 119657122 119657122 single base substitution G A downstream_gene_variant MELA-AU X 119657124 119657124 single base substitution G A downstream_gene_variant MELA-AU X 119657717 119657717 single base substitution C T downstream_gene_variant MELA-AU X 119657768 119657768 single base substitution T A downstream_gene_variant MELA-AU X 119657835 119657835 single base substitution G A downstream_gene_variant MELA-AU X 119658168 119658168 single base substitution G A downstream_gene_variant MELA-AU X 119658361 119658361 single base substitution A C downstream_gene_variant MELA-AU X 119658793 119658793 single base substitution T A 3_prime_UTR_variant MELA-AU X 119658793 119658793 single base substitution T A downstream_gene_variant MELA-AU X 119658864 119658864 single base substitution G A 3_prime_UTR_variant MELA-AU X 119658864 119658864 single base substitution G A downstream_gene_variant MELA-AU X 119659103 119659103 single base substitution G A 3_prime_UTR_variant MELA-AU X 119659103 119659103 single base substitution G A downstream_gene_variant MELA-AU X 119659424 119659424 single base substitution G A 3_prime_UTR_variant MELA-AU X 119659424 119659424 single base substitution G A downstream_gene_variant MELA-AU X 119660127 119660127 single base substitution G A 3_prime_UTR_variant MELA-AU X 119660127 119660127 single base substitution G A downstream_gene_variant MELA-AU X 119660297 119660297 single base substitution C T 3_prime_UTR_variant MELA-AU X 119660297 119660297 single base substitution C T downstream_gene_variant MELA-AU X 119660454 119660454 single base substitution G A 3_prime_UTR_variant MELA-AU X 119660454 119660454 single base substitution G A downstream_gene_variant MELA-AU X 119660886 119660886 single base substitution G T intron_variant MELA-AU X 119661247 119661247 single base substitution G A downstream_gene_variant MELA-AU X 119661247 119661247 single base substitution G A intron_variant MELA-AU X 119661254 119661254 single base substitution G A downstream_gene_variant MELA-AU X 119661254 119661254 single base substitution G A intron_variant MELA-AU X 119662824 119662824 single base substitution G A downstream_gene_variant MELA-AU X 119662824 119662824 single base substitution G A intron_variant MELA-AU X 119664659 119664659 single base substitution A G downstream_gene_variant MELA-AU X 119664659 119664659 single base substitution A G intron_variant MELA-AU X 119664819 119664819 single base substitution C T downstream_gene_variant MELA-AU X 119664819 119664819 single base substitution C T intron_variant MELA-AU X 119665072 119665072 single base substitution G A downstream_gene_variant MELA-AU X 119665072 119665072 single base substitution G A intron_variant MELA-AU X 119666464 119666464 single base substitution G A intron_variant MELA-AU X 119666761 119666761 single base substitution C T intron_variant MELA-AU X 119666949 119666949 single base substitution G A intron_variant MELA-AU X 119667143 119667143 single base substitution G A intron_variant MELA-AU X 119667446 119667446 single base substitution G A intron_variant MELA-AU X 119667609 119667609 single base substitution C T intron_variant MELA-AU X 119668560 119668560 single base substitution C T intron_variant MELA-AU X 119668694 119668694 single base substitution G A intron_variant MELA-AU X 119669154 119669154 single base substitution G A intron_variant MELA-AU X 119669547 119669547 single base substitution G A intron_variant MELA-AU X 119670286 119670286 single base substitution G A intron_variant MELA-AU X 119670527 119670528 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 119671103 119671103 single base substitution G A intron_variant MELA-AU X 119671191 119671191 single base substitution C T intron_variant MELA-AU X 119671474 119671474 single base substitution T C intron_variant MELA-AU X 119671574 119671574 single base substitution C T intron_variant MELA-AU X 119672181 119672181 single base substitution A C exon_variant MELA-AU X 119672181 119672181 single base substitution A C intron_variant MELA-AU X 119672287 119672287 single base substitution G A exon_variant MELA-AU X 119672287 119672287 single base substitution G A intron_variant MELA-AU X 119672288 119672288 single base substitution G A exon_variant MELA-AU X 119672288 119672288 single base substitution G A intron_variant MELA-AU X 119673027 119673027 single base substitution C T downstream_gene_variant MELA-AU X 119673027 119673027 single base substitution C T intron_variant MELA-AU X 119673027 119673027 single base substitution C T upstream_gene_variant MELA-AU X 119673265 119673265 single base substitution G A downstream_gene_variant MELA-AU X 119673265 119673265 single base substitution G A intron_variant MELA-AU X 119673265 119673265 single base substitution G A upstream_gene_variant MELA-AU X 119674209 119674209 single base substitution G A downstream_gene_variant MELA-AU X 119674209 119674209 single base substitution G A intron_variant MELA-AU X 119674209 119674209 single base substitution G A upstream_gene_variant MELA-AU X 119674878 119674878 single base substitution G A downstream_gene_variant MELA-AU X 119674878 119674878 single base substitution G A intron_variant MELA-AU X 119674878 119674878 single base substitution G A upstream_gene_variant MELA-AU X 119674882 119674882 single base substitution G A downstream_gene_variant MELA-AU X 119674882 119674882 single base substitution G A intron_variant MELA-AU X 119674882 119674882 single base substitution G A upstream_gene_variant MELA-AU X 119675052 119675052 single base substitution C T downstream_gene_variant MELA-AU X 119675052 119675052 single base substitution C T intron_variant MELA-AU X 119675052 119675052 single base substitution C T upstream_gene_variant MELA-AU X 119675426 119675426 single base substitution G A downstream_gene_variant MELA-AU X 119675426 119675426 single base substitution G A intron_variant MELA-AU X 119675426 119675426 single base substitution G A upstream_gene_variant MELA-AU X 119675655 119675655 single base substitution G A downstream_gene_variant MELA-AU X 119675655 119675655 single base substitution G A intron_variant MELA-AU X 119675655 119675655 single base substitution G A upstream_gene_variant MELA-AU X 119676408 119676408 single base substitution G A downstream_gene_variant MELA-AU X 119676408 119676408 single base substitution G A intron_variant MELA-AU X 119676408 119676408 single base substitution G A upstream_gene_variant MELA-AU X 119676756 119676756 single base substitution A C downstream_gene_variant MELA-AU X 119676756 119676756 single base substitution A C intron_variant MELA-AU X 119676756 119676756 single base substitution A C upstream_gene_variant MELA-AU X 119677757 119677757 single base substitution A T intron_variant MELA-AU X 119678563 119678563 single base substitution A G intron_variant MELA-AU X 119678672 119678672 single base substitution G A intron_variant MELA-AU X 119679726 119679726 single base substitution G A intron_variant MELA-AU X 119679842 119679842 single base substitution G A intron_variant MELA-AU X 119680207 119680207 single base substitution C T intron_variant MELA-AU X 119680355 119680355 single base substitution C A intron_variant MELA-AU X 119680466 119680466 single base substitution G A missense_variant S261L 782C>T MELA-AU X 119680466 119680466 single base substitution G A missense_variant S266L 797C>T MELA-AU X 119680466 119680466 single base substitution G A missense_variant S279L 836C>T MELA-AU X 119680466 119680466 single base substitution G A missense_variant S83L 248C>T MELA-AU X 119680883 119680883 single base substitution C T intron_variant MELA-AU X 119682061 119682061 single base substitution C T intron_variant MELA-AU X 119682163 119682163 single base substitution C T intron_variant MELA-AU X 119682363 119682363 single base substitution A G intron_variant MELA-AU X 119682974 119682974 single base substitution C T intron_variant MELA-AU X 119683616 119683616 single base substitution C T intron_variant MELA-AU X 119684493 119684493 single base substitution G A intron_variant MELA-AU X 119684511 119684511 single base substitution A G intron_variant MELA-AU X 119685176 119685176 single base substitution T C intron_variant MELA-AU X 119685187 119685187 single base substitution G A intron_variant MELA-AU X 119685245 119685246 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 119685705 119685705 single base substitution A T intron_variant MELA-AU X 119686472 119686472 single base substitution G A intron_variant MELA-AU X 119686529 119686529 single base substitution A C intron_variant MELA-AU X 119686623 119686623 single base substitution C T intron_variant MELA-AU X 119687839 119687839 single base substitution C T downstream_gene_variant MELA-AU X 119687839 119687839 single base substitution C T intron_variant MELA-AU X 119687987 119687987 single base substitution G A downstream_gene_variant MELA-AU X 119687987 119687987 single base substitution G A intron_variant MELA-AU X 119688479 119688479 single base substitution G A downstream_gene_variant MELA-AU X 119688479 119688479 single base substitution G A intron_variant MELA-AU X 119689730 119689730 single base substitution G A downstream_gene_variant MELA-AU X 119689730 119689730 single base substitution G A intron_variant MELA-AU X 119690040 119690040 single base substitution G A downstream_gene_variant MELA-AU X 119690040 119690040 single base substitution G A intron_variant MELA-AU X 119694105 119694105 single base substitution G T exon_variant MELA-AU X 119694105 119694105 single base substitution G T missense_variant T130N 389C>A MELA-AU X 119694105 119694105 single base substitution G T missense_variant T135N 404C>A MELA-AU X 119694105 119694105 single base substitution G T missense_variant T148N 443C>A MELA-AU X 119694105 119694105 single base substitution G T upstream_gene_variant MELA-AU X 119694715 119694715 single base substitution G A intron_variant MELA-AU X 119694715 119694715 single base substitution G A upstream_gene_variant MELA-AU X 119694785 119694785 single base substitution C T intron_variant MELA-AU X 119694785 119694785 single base substitution C T upstream_gene_variant MELA-AU X 119694939 119694939 single base substitution G A intron_variant MELA-AU X 119694939 119694939 single base substitution G A upstream_gene_variant MELA-AU X 119695979 119695979 single base substitution C T intron_variant MELA-AU X 119695979 119695979 single base substitution C T upstream_gene_variant MELA-AU X 119696392 119696392 single base substitution C T intron_variant MELA-AU X 119696392 119696392 single base substitution C T upstream_gene_variant MELA-AU X 119696795 119696795 single base substitution G A intron_variant MELA-AU X 119696795 119696795 single base substitution G A upstream_gene_variant MELA-AU X 119698354 119698354 single base substitution G T intron_variant MELA-AU X 119698354 119698354 single base substitution G T upstream_gene_variant MELA-AU X 119698964 119698964 single base substitution C T intron_variant MELA-AU X 119698964 119698964 single base substitution C T upstream_gene_variant MELA-AU X 119700275 119700275 single base substitution G A downstream_gene_variant MELA-AU X 119700275 119700275 single base substitution G A intron_variant MELA-AU X 119700275 119700275 single base substitution G A upstream_gene_variant MELA-AU X 119700672 119700672 single base substitution C T downstream_gene_variant MELA-AU X 119700672 119700672 single base substitution C T intron_variant MELA-AU X 119701252 119701252 single base substitution G A downstream_gene_variant MELA-AU X 119701252 119701252 single base substitution G A intron_variant MELA-AU X 119701299 119701299 single base substitution C T downstream_gene_variant MELA-AU X 119701299 119701299 single base substitution C T intron_variant MELA-AU X 119702603 119702603 single base substitution C T downstream_gene_variant MELA-AU X 119702603 119702603 single base substitution C T intron_variant MELA-AU X 119702732 119702732 single base substitution C T downstream_gene_variant MELA-AU X 119702732 119702732 single base substitution C T intron_variant MELA-AU X 119703887 119703887 single base substitution G A downstream_gene_variant MELA-AU X 119703887 119703887 single base substitution G A intron_variant MELA-AU X 119703904 119703904 single base substitution C T downstream_gene_variant MELA-AU X 119703904 119703904 single base substitution C T intron_variant MELA-AU X 119704081 119704082 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU X 119704081 119704082 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU X 119704460 119704460 single base substitution G A downstream_gene_variant MELA-AU X 119704460 119704460 single base substitution G A intron_variant MELA-AU X 119704711 119704711 single base substitution G A downstream_gene_variant MELA-AU X 119704711 119704711 single base substitution G A intron_variant MELA-AU X 119705946 119705946 single base substitution C T intron_variant MELA-AU X 119706058 119706059 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU X 119706562 119706562 single base substitution T C intron_variant MELA-AU X 119707508 119707508 single base substitution G A intron_variant MELA-AU X 119708118 119708118 single base substitution G A intron_variant MELA-AU X 119708256 119708256 single base substitution G A intron_variant MELA-AU X 119708554 119708554 single base substitution C T intron_variant MELA-AU X 119708719 119708719 single base substitution G A intron_variant MELA-AU X 119708719 119708720 multiple base substitution (>=2bp and <=200bp) GG TT intron_variant MELA-AU X 119708721 119708721 single base substitution G A intron_variant MELA-AU X 119708970 119708971 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU X 119709551 119709551 single base substitution C T 5_prime_UTR_variant MELA-AU X 119709551 119709551 single base substitution C T upstream_gene_variant MELA-AU X 119709898 119709898 single base substitution C T upstream_gene_variant MELA-AU X 119710049 119710049 single base substitution G A upstream_gene_variant MELA-AU X 119710240 119710240 single base substitution A T upstream_gene_variant MELA-AU X 119710761 119710761 single base substitution C A upstream_gene_variant MELA-AU X 119711206 119711206 single base substitution C T upstream_gene_variant MELA-AU X 119711823 119711823 single base substitution G A upstream_gene_variant MELA-AU X 119711930 119711930 single base substitution G A upstream_gene_variant MELA-AU X 119712382 119712382 single base substitution G A upstream_gene_variant MELA-AU X 119712456 119712456 single base substitution C T upstream_gene_variant MELA-AU X 119712942 119712942 single base substitution C A upstream_gene_variant MELA-AU X 119713968 119713968 single base substitution G A upstream_gene_variant MELA-AU X 119714068 119714068 single base substitution A G upstream_gene_variant MELA-AU X 119714187 119714187 single base substitution T G upstream_gene_variant MELA-AU X 119714437 119714437 single base substitution C T upstream_gene_variant ORCA-IN X 119662328 119662328 single base substitution C T downstream_gene_variant ORCA-IN X 119662328 119662328 single base substitution C T intron_variant ORCA-IN X 119666398 119666398 single base substitution C G exon_variant ORCA-IN X 119666398 119666398 single base substitution C G missense_variant R773T 2318G>C ORCA-IN X 119666398 119666398 single base substitution C G missense_variant R778T 2333G>C ORCA-IN X 119666398 119666398 single base substitution C G missense_variant R791T 2372G>C ORCA-IN X 119669326 119669326 single base substitution G A intron_variant ORCA-IN X 119669783 119669783 single base substitution C A exon_variant ORCA-IN X 119669783 119669783 single base substitution C A stop_gained E688* 2062G>T ORCA-IN X 119669783 119669783 single base substitution C A stop_gained E693* 2077G>T ORCA-IN X 119669783 119669783 single base substitution C A stop_gained E706* 2116G>T ORCA-IN X 119702911 119702911 single base substitution G T downstream_gene_variant ORCA-IN X 119702911 119702911 single base substitution G T intron_variant OV-AU X 119674636 119674636 single base substitution G A downstream_gene_variant OV-AU X 119674636 119674636 single base substitution G A intron_variant OV-AU X 119674636 119674636 single base substitution G A upstream_gene_variant OV-AU X 119680217 119680217 single base substitution C T intron_variant OV-AU X 119680647 119680647 single base substitution T G intron_variant OV-AU X 119688512 119688512 single base substitution T C downstream_gene_variant OV-AU X 119688512 119688512 single base substitution T C intron_variant OV-AU X 119700271 119700271 single base substitution A C downstream_gene_variant OV-AU X 119700271 119700271 single base substitution A C intron_variant OV-AU X 119700271 119700271 single base substitution A C upstream_gene_variant OV-AU X 119700564 119700564 single base substitution T A downstream_gene_variant OV-AU X 119700564 119700564 single base substitution T A intron_variant OV-AU X 119706735 119706735 single base substitution C A intron_variant OV-AU X 119709511 119709511 single base substitution A G 5_prime_UTR_variant OV-AU X 119709511 119709511 single base substitution A G upstream_gene_variant OV-AU X 119709885 119709885 single base substitution G T upstream_gene_variant OV-AU X 119710777 119710777 single base substitution G C upstream_gene_variant OV-AU X 119711121 119711121 single base substitution G C upstream_gene_variant PACA-AU X 119658601 119658601 single base substitution G T 3_prime_UTR_variant PACA-AU X 119658601 119658601 single base substitution G T downstream_gene_variant PACA-AU X 119668074 119668074 single base substitution T A intron_variant PACA-AU X 119670515 119670515 single base substitution C T intron_variant PACA-AU X 119671387 119671387 single base substitution T C intron_variant PACA-AU X 119671436 119671436 single base substitution C G intron_variant PACA-AU X 119671512 119671512 single base substitution A G intron_variant PACA-AU X 119678169 119678169 single base substitution G T intron_variant PACA-AU X 119678194 119678194 single base substitution A G intron_variant PACA-AU X 119679277 119679277 single base substitution C T intron_variant PACA-AU X 119683662 119683662 single base substitution C A intron_variant PACA-AU X 119684109 119684109 single base substitution G A intron_variant PACA-AU X 119691625 119691625 single base substitution C T downstream_gene_variant PACA-AU X 119691625 119691625 single base substitution C T intron_variant PACA-AU X 119695615 119695615 single base substitution A G intron_variant PACA-AU X 119695615 119695615 single base substitution A G upstream_gene_variant PACA-AU X 119696061 119696061 single base substitution C G intron_variant PACA-AU X 119696061 119696061 single base substitution C G upstream_gene_variant PACA-AU X 119706214 119706214 single base substitution G T intron_variant PACA-AU X 119708158 119708158 single base substitution C T intron_variant PACA-AU X 119710374 119710374 single base substitution A G upstream_gene_variant PACA-AU X 119712468 119712468 single base substitution G A upstream_gene_variant PACA-AU X 119713427 119713427 single base substitution A G upstream_gene_variant PACA-CA X 119655039 119655039 single base substitution G T downstream_gene_variant PACA-CA X 119655641 119655641 single base substitution A C downstream_gene_variant PACA-CA X 119655983 119655983 single base substitution A T downstream_gene_variant PACA-CA X 119660822 119660822 deletion of <=200bp T - intron_variant PACA-CA X 119664024 119664024 single base substitution A G downstream_gene_variant PACA-CA X 119664024 119664024 single base substitution A G missense_variant M842T 2525T>C PACA-CA X 119664024 119664024 single base substitution A G missense_variant M847T 2540T>C PACA-CA X 119664024 119664024 single base substitution A G missense_variant M860T 2579T>C PACA-CA X 119670819 119670819 single base substitution G A exon_variant PACA-CA X 119670819 119670819 single base substitution G A missense_variant P670L 2009C>T PACA-CA X 119670819 119670819 single base substitution G A missense_variant P675L 2024C>T PACA-CA X 119670819 119670819 single base substitution G A missense_variant P688L 2063C>T PACA-CA X 119673006 119673006 single base substitution A G downstream_gene_variant PACA-CA X 119673006 119673006 single base substitution A G intron_variant PACA-CA X 119673006 119673006 single base substitution A G upstream_gene_variant PACA-CA X 119673935 119673935 single base substitution C A downstream_gene_variant PACA-CA X 119673935 119673935 single base substitution C A intron_variant PACA-CA X 119673935 119673935 single base substitution C A upstream_gene_variant PACA-CA X 119674460 119674460 single base substitution T A downstream_gene_variant PACA-CA X 119674460 119674460 single base substitution T A intron_variant PACA-CA X 119674460 119674460 single base substitution T A upstream_gene_variant PACA-CA X 119676595 119676595 deletion of <=200bp T - downstream_gene_variant PACA-CA X 119676595 119676595 deletion of <=200bp T - intron_variant PACA-CA X 119676595 119676595 deletion of <=200bp T - upstream_gene_variant PACA-CA X 119676964 119676964 deletion of <=200bp A - downstream_gene_variant PACA-CA X 119676964 119676964 deletion of <=200bp A - intron_variant PACA-CA X 119676964 119676964 deletion of <=200bp A - upstream_gene_variant PACA-CA X 119679581 119679581 single base substitution G C intron_variant PACA-CA X 119679805 119679805 single base substitution G A intron_variant PACA-CA X 119681648 119681648 single base substitution T C intron_variant PACA-CA X 119681752 119681752 single base substitution C G intron_variant PACA-CA X 119681769 119681769 single base substitution C A intron_variant PACA-CA X 119685378 119685378 single base substitution T A intron_variant PACA-CA X 119686511 119686511 deletion of <=200bp A - intron_variant PACA-CA X 119691174 119691174 deletion of <=200bp G - downstream_gene_variant PACA-CA X 119691174 119691174 deletion of <=200bp G - intron_variant PACA-CA X 119694076 119694076 single base substitution T G exon_variant PACA-CA X 119694076 119694076 single base substitution T G missense_variant K140Q 418A>C PACA-CA X 119694076 119694076 single base substitution T G missense_variant K145Q 433A>C PACA-CA X 119694076 119694076 single base substitution T G missense_variant K158Q 472A>C PACA-CA X 119694076 119694076 single base substitution T G upstream_gene_variant PACA-CA X 119694592 119694592 single base substitution G A intron_variant PACA-CA X 119694592 119694592 single base substitution G A upstream_gene_variant PACA-CA X 119696618 119696618 deletion of <=200bp A - intron_variant PACA-CA X 119696618 119696618 deletion of <=200bp A - upstream_gene_variant PACA-CA X 119700021 119700021 single base substitution G T intron_variant PACA-CA X 119700021 119700021 single base substitution G T upstream_gene_variant PACA-CA X 119701705 119701705 single base substitution G A downstream_gene_variant PACA-CA X 119701705 119701705 single base substitution G A intron_variant PACA-CA X 119704903 119704903 single base substitution G A downstream_gene_variant PACA-CA X 119704903 119704903 single base substitution G A intron_variant PACA-CA X 119707206 119707206 single base substitution A G intron_variant PACA-CA X 119707622 119707622 single base substitution A G intron_variant PACA-CA X 119710598 119710598 single base substitution A G upstream_gene_variant PAEN-IT X 119709812 119709812 single base substitution G T upstream_gene_variant PBCA-DE X 119655961 119655962 deletion of <=200bp TA - downstream_gene_variant PBCA-DE X 119662265 119662265 insertion of <=200bp - A downstream_gene_variant PBCA-DE X 119662265 119662265 insertion of <=200bp - A intron_variant PBCA-DE X 119664282 119664282 single base substitution C A downstream_gene_variant PBCA-DE X 119664282 119664282 single base substitution C A intron_variant PBCA-DE X 119669332 119669332 single base substitution C T intron_variant PBCA-DE X 119669954 119669954 single base substitution C A intron_variant PBCA-DE X 119672059 119672059 single base substitution C T exon_variant PBCA-DE X 119672059 119672059 single base substitution C T missense_variant G620R 1858G>A PBCA-DE X 119672059 119672059 single base substitution C T missense_variant G625R 1873G>A PBCA-DE X 119672059 119672059 single base substitution C T missense_variant G638R 1912G>A PBCA-DE X 119673419 119673419 single base substitution G C downstream_gene_variant PBCA-DE X 119673419 119673419 single base substitution G C intron_variant PBCA-DE X 119673419 119673419 single base substitution G C upstream_gene_variant PBCA-DE X 119679239 119679239 single base substitution T C intron_variant PBCA-DE X 119683936 119683936 single base substitution A G intron_variant PBCA-DE X 119689187 119689187 single base substitution G T downstream_gene_variant PBCA-DE X 119689187 119689187 single base substitution G T intron_variant PBCA-DE X 119691591 119691591 single base substitution T C downstream_gene_variant PBCA-DE X 119691591 119691591 single base substitution T C intron_variant PBCA-DE X 119692050 119692050 single base substitution T C intron_variant PBCA-DE X 119694117 119694119 deletion of <=200bp GAG - disruptive_inframe_deletion SS125S PBCA-DE X 119694117 119694119 deletion of <=200bp GAG - disruptive_inframe_deletion SS130S PBCA-DE X 119694117 119694119 deletion of <=200bp GAG - disruptive_inframe_deletion SS143S PBCA-DE X 119694117 119694119 deletion of <=200bp GAG - exon_variant PBCA-DE X 119694117 119694119 deletion of <=200bp GAG - upstream_gene_variant PBCA-DE X 119697809 119697809 single base substitution A G intron_variant PBCA-DE X 119697809 119697809 single base substitution A G upstream_gene_variant PBCA-DE X 119698461 119698461 insertion of <=200bp - A intron_variant PBCA-DE X 119698461 119698461 insertion of <=200bp - A upstream_gene_variant PBCA-DE X 119707099 119707099 single base substitution G A intron_variant PRAD-CA X 119661621 119661621 single base substitution C A downstream_gene_variant PRAD-CA X 119661621 119661621 single base substitution C A intron_variant PRAD-UK X 119698461 119698461 insertion of <=200bp - A intron_variant PRAD-UK X 119698461 119698461 insertion of <=200bp - A upstream_gene_variant READ-US X 119678368 119678368 single base substitution G A stop_gained R173* 517C>T READ-US X 119678368 119678368 single base substitution G A stop_gained R351* 1051C>T READ-US X 119678368 119678368 single base substitution G A stop_gained R356* 1066C>T READ-US X 119678368 119678368 single base substitution G A stop_gained R369* 1105C>T READ-US X 119681075 119681075 single base substitution G T missense_variant S231Y 692C>A READ-US X 119681075 119681075 single base substitution G T missense_variant S236Y 707C>A READ-US X 119681075 119681075 single base substitution G T missense_variant S249Y 746C>A READ-US X 119681075 119681075 single base substitution G T missense_variant S53Y 158C>A RECA-EU X 119657981 119657981 single base substitution T A downstream_gene_variant RECA-EU X 119659768 119659768 single base substitution C G 3_prime_UTR_variant RECA-EU X 119659768 119659768 single base substitution C G downstream_gene_variant RECA-EU X 119671697 119671697 single base substitution T C intron_variant RECA-EU X 119681955 119681955 single base substitution C T intron_variant RECA-EU X 119695071 119695071 single base substitution G T exon_variant RECA-EU X 119695071 119695071 single base substitution G T intron_variant RECA-EU X 119695071 119695071 single base substitution G T upstream_gene_variant RECA-EU X 119697058 119697058 single base substitution T A intron_variant RECA-EU X 119697058 119697058 single base substitution T A upstream_gene_variant RECA-EU X 119702211 119702211 single base substitution C T downstream_gene_variant RECA-EU X 119702211 119702211 single base substitution C T intron_variant RECA-EU X 119709757 119709757 single base substitution G C upstream_gene_variant SKCA-BR X 119655038 119655038 single base substitution G A downstream_gene_variant SKCA-BR X 119655421 119655421 single base substitution C A downstream_gene_variant SKCA-BR X 119655566 119655566 single base substitution C T downstream_gene_variant SKCA-BR X 119659641 119659641 single base substitution C T 3_prime_UTR_variant SKCA-BR X 119659641 119659641 single base substitution C T downstream_gene_variant SKCA-BR X 119662916 119662916 single base substitution G A downstream_gene_variant SKCA-BR X 119662916 119662916 single base substitution G A intron_variant SKCA-BR X 119670629 119670629 single base substitution A G intron_variant SKCA-BR X 119670699 119670699 single base substitution A G intron_variant SKCA-BR X 119670701 119670701 single base substitution G A intron_variant SKCA-BR X 119672978 119672978 single base substitution C T downstream_gene_variant SKCA-BR X 119672978 119672978 single base substitution C T intron_variant SKCA-BR X 119672978 119672978 single base substitution C T upstream_gene_variant SKCA-BR X 119674236 119674236 single base substitution G A downstream_gene_variant SKCA-BR X 119674236 119674236 single base substitution G A missense_variant A542V 1625C>T SKCA-BR X 119674236 119674236 single base substitution G A missense_variant A547V 1640C>T SKCA-BR X 119674236 119674236 single base substitution G A missense_variant A560V 1679C>T SKCA-BR X 119674236 119674236 single base substitution G A upstream_gene_variant SKCA-BR X 119678033 119678033 single base substitution C T missense_variant R192Q 575G>A SKCA-BR X 119678033 119678033 single base substitution C T missense_variant R370Q 1109G>A SKCA-BR X 119678033 119678033 single base substitution C T missense_variant R375Q 1124G>A SKCA-BR X 119678033 119678033 single base substitution C T missense_variant R388Q 1163G>A SKCA-BR X 119679730 119679730 single base substitution T G intron_variant SKCA-BR X 119685847 119685847 single base substitution G A intron_variant SKCA-BR X 119687556 119687556 single base substitution C T downstream_gene_variant SKCA-BR X 119687556 119687556 single base substitution C T intron_variant SKCA-BR X 119687810 119687810 single base substitution C T downstream_gene_variant SKCA-BR X 119687810 119687810 single base substitution C T intron_variant SKCA-BR X 119688782 119688782 single base substitution G A downstream_gene_variant SKCA-BR X 119688782 119688782 single base substitution G A intron_variant SKCA-BR X 119693451 119693451 single base substitution C T intron_variant SKCA-BR X 119695037 119695037 single base substitution G A exon_variant SKCA-BR X 119695037 119695037 single base substitution G A intron_variant SKCA-BR X 119695037 119695037 single base substitution G A upstream_gene_variant SKCA-BR X 119700200 119700200 insertion of <=200bp - GTATATATATA downstream_gene_variant SKCA-BR X 119700200 119700200 insertion of <=200bp - GTATATATATA intron_variant SKCA-BR X 119700200 119700200 insertion of <=200bp - GTATATATATA upstream_gene_variant SKCA-BR X 119700204 119700204 insertion of <=200bp - ATATATATATATATATATATG downstream_gene_variant SKCA-BR X 119700204 119700204 insertion of <=200bp - ATATATATATATATATATATG intron_variant SKCA-BR X 119700204 119700204 insertion of <=200bp - ATATATATATATATATATATG upstream_gene_variant SKCA-BR X 119700868 119700868 single base substitution G A downstream_gene_variant SKCA-BR X 119700868 119700868 single base substitution G A intron_variant SKCA-BR X 119701178 119701178 single base substitution T C downstream_gene_variant SKCA-BR X 119701178 119701178 single base substitution T C intron_variant SKCA-BR X 119701425 119701425 single base substitution C T downstream_gene_variant SKCA-BR X 119701425 119701425 single base substitution C T intron_variant SKCA-BR X 119703061 119703061 single base substitution G A downstream_gene_variant SKCA-BR X 119703061 119703061 single base substitution G A intron_variant SKCA-BR X 119705438 119705438 single base substitution G A exon_variant SKCA-BR X 119705438 119705438 single base substitution G A intron_variant SKCA-BR X 119706363 119706363 single base substitution C T intron_variant SKCA-BR X 119706659 119706659 single base substitution C T intron_variant SKCA-BR X 119711453 119711453 insertion of <=200bp - CA upstream_gene_variant SKCM-US X 119664110 119664110 single base substitution C T downstream_gene_variant SKCM-US X 119664110 119664110 single base substitution C T splice_acceptor_variant SKCM-US X 119674287 119674287 single base substitution G A downstream_gene_variant SKCM-US X 119674287 119674287 single base substitution G A missense_variant A525V 1574C>T SKCM-US X 119674287 119674287 single base substitution G A missense_variant A530V 1589C>T SKCM-US X 119674287 119674287 single base substitution G A missense_variant A543V 1628C>T SKCM-US X 119674287 119674287 single base substitution G A upstream_gene_variant SKCM-US X 119675486 119675486 single base substitution G A downstream_gene_variant SKCM-US X 119675486 119675486 single base substitution G A missense_variant L472F 1414C>T SKCM-US X 119675486 119675486 single base substitution G A missense_variant L477F 1429C>T SKCM-US X 119675486 119675486 single base substitution G A missense_variant L490F 1468C>T SKCM-US X 119675486 119675486 single base substitution G A upstream_gene_variant SKCM-US X 119678367 119678367 single base substitution C T missense_variant R173Q 518G>A SKCM-US X 119678367 119678367 single base substitution C T missense_variant R351Q 1052G>A SKCM-US X 119678367 119678367 single base substitution C T missense_variant R356Q 1067G>A SKCM-US X 119678367 119678367 single base substitution C T missense_variant R369Q 1106G>A SKCM-US X 119680416 119680416 single base substitution G A missense_variant H100Y 298C>T SKCM-US X 119680416 119680416 single base substitution G A missense_variant H278Y 832C>T SKCM-US X 119680416 119680416 single base substitution G A missense_variant H283Y 847C>T SKCM-US X 119680416 119680416 single base substitution G A missense_variant H296Y 886C>T SKCM-US X 119694132 119694132 single base substitution G A exon_variant SKCM-US X 119694132 119694132 single base substitution G A missense_variant S121F 362C>T SKCM-US X 119694132 119694132 single base substitution G A missense_variant S126F 377C>T SKCM-US X 119694132 119694132 single base substitution G A missense_variant S139F 416C>T SKCM-US X 119694132 119694132 single base substitution G A upstream_gene_variant SKCM-US X 119708441 119708441 single base substitution C T exon_variant SKCM-US X 119708441 119708441 single base substitution C T missense_variant G11E 32G>A SKCM-US X 119708453 119708453 single base substitution C T exon_variant SKCM-US X 119708453 119708453 single base substitution C T missense_variant G7E 20G>A STAD-US X 119669715 119669715 single base substitution T C exon_variant STAD-US X 119669715 119669715 single base substitution T C synonymous_variant G710G 2130A>G STAD-US X 119669715 119669715 single base substitution T C synonymous_variant G715G 2145A>G STAD-US X 119669715 119669715 single base substitution T C synonymous_variant G728G 2184A>G STAD-US X 119673163 119673163 single base substitution T G downstream_gene_variant STAD-US X 119673163 119673163 single base substitution T G missense_variant K567N 1701A>C STAD-US X 119673163 119673163 single base substitution T G missense_variant K572N 1716A>C STAD-US X 119673163 119673163 single base substitution T G missense_variant K585N 1755A>C STAD-US X 119673163 119673163 single base substitution T G upstream_gene_variant STAD-US X 119674406 119674406 single base substitution G A downstream_gene_variant STAD-US X 119674406 119674406 single base substitution G A synonymous_variant S485S 1455C>T STAD-US X 119674406 119674406 single base substitution G A synonymous_variant S490S 1470C>T STAD-US X 119674406 119674406 single base substitution G A synonymous_variant S503S 1509C>T STAD-US X 119674406 119674406 single base substitution G A upstream_gene_variant STAD-US X 119680445 119680445 insertion of <=200bp - A frameshift_variant L268F? STAD-US X 119680445 119680445 insertion of <=200bp - A frameshift_variant L273F? STAD-US X 119680445 119680445 insertion of <=200bp - A frameshift_variant L286F? STAD-US X 119680445 119680445 insertion of <=200bp - A frameshift_variant L90F? STAD-US X 119691798 119691798 single base substitution T A exon_variant STAD-US X 119691798 119691798 single base substitution T A missense_variant N218I 653A>T STAD-US X 119691798 119691798 single base substitution T A missense_variant N223I 668A>T STAD-US X 119691798 119691798 single base substitution T A missense_variant N236I 707A>T STAD-US X 119691798 119691798 single base substitution T A missense_variant N40I 119A>T STAD-US X 119691804 119691804 single base substitution T C exon_variant STAD-US X 119691804 119691804 single base substitution T C missense_variant K216R 647A>G STAD-US X 119691804 119691804 single base substitution T C missense_variant K221R 662A>G STAD-US X 119691804 119691804 single base substitution T C missense_variant K234R 701A>G STAD-US X 119691804 119691804 single base substitution T C missense_variant K38R 113A>G STAD-US X 119694325 119694325 single base substitution C A exon_variant STAD-US X 119694325 119694325 single base substitution C A missense_variant D57Y 169G>T STAD-US X 119694325 119694325 single base substitution C A missense_variant D62Y 184G>T STAD-US X 119694325 119694325 single base substitution C A missense_variant D75Y 223G>T STAD-US X 119694325 119694325 single base substitution C A upstream_gene_variant STAD-US X 119708425 119708425 single base substitution A G exon_variant STAD-US X 119708425 119708425 single base substitution A G synonymous_variant A16A 48T>C THCA-SA X 119659941 119659941 single base substitution C T 3_prime_UTR_variant THCA-SA X 119659941 119659941 single base substitution C T downstream_gene_variant UCEC-US X 119664026 119664026 single base substitution C A downstream_gene_variant UCEC-US X 119664026 119664026 single base substitution C A missense_variant K841N 2523G>T UCEC-US X 119664026 119664026 single base substitution C A missense_variant K846N 2538G>T UCEC-US X 119664026 119664026 single base substitution C A missense_variant K859N 2577G>T UCEC-US X 119664034 119664034 single base substitution T A downstream_gene_variant UCEC-US X 119664034 119664034 single base substitution T A missense_variant I839F 2515A>T UCEC-US X 119664034 119664034 single base substitution T A missense_variant I844F 2530A>T UCEC-US X 119664034 119664034 single base substitution T A missense_variant I857F 2569A>T UCEC-US X 119664037 119664037 single base substitution G A downstream_gene_variant UCEC-US X 119664037 119664037 single base substitution G A stop_gained R838* 2512C>T UCEC-US X 119664037 119664037 single base substitution G A stop_gained R843* 2527C>T UCEC-US X 119664037 119664037 single base substitution G A stop_gained R856* 2566C>T UCEC-US X 119668439 119668439 single base substitution A G splice_region_variant UCEC-US X 119670796 119670796 single base substitution G A exon_variant UCEC-US X 119670796 119670796 single base substitution G A missense_variant H678Y 2032C>T UCEC-US X 119670796 119670796 single base substitution G A missense_variant H683Y 2047C>T UCEC-US X 119670796 119670796 single base substitution G A missense_variant H696Y 2086C>T UCEC-US X 119672046 119672046 single base substitution G A exon_variant UCEC-US X 119672046 119672046 single base substitution G A missense_variant T624I 1871C>T UCEC-US X 119672046 119672046 single base substitution G A missense_variant T629I 1886C>T UCEC-US X 119672046 119672046 single base substitution G A missense_variant T642I 1925C>T UCEC-US X 119672056 119672056 single base substitution C T exon_variant UCEC-US X 119672056 119672056 single base substitution C T missense_variant A621T 1861G>A UCEC-US X 119672056 119672056 single base substitution C T missense_variant A626T 1876G>A UCEC-US X 119672056 119672056 single base substitution C T missense_variant A639T 1915G>A UCEC-US X 119674363 119674363 single base substitution C A downstream_gene_variant UCEC-US X 119674363 119674363 single base substitution C A stop_gained E500* 1498G>T UCEC-US X 119674363 119674363 single base substitution C A stop_gained E505* 1513G>T UCEC-US X 119674363 119674363 single base substitution C A stop_gained E518* 1552G>T UCEC-US X 119674363 119674363 single base substitution C A upstream_gene_variant UCEC-US X 119675503 119675503 single base substitution C T downstream_gene_variant UCEC-US X 119675503 119675503 single base substitution C T missense_variant R466Q 1397G>A UCEC-US X 119675503 119675503 single base substitution C T missense_variant R471Q 1412G>A UCEC-US X 119675503 119675503 single base substitution C T missense_variant R484Q 1451G>A UCEC-US X 119675503 119675503 single base substitution C T upstream_gene_variant UCEC-US X 119677649 119677649 single base substitution G A missense_variant H219Y 655C>T UCEC-US X 119677649 119677649 single base substitution G A missense_variant H397Y 1189C>T UCEC-US X 119677649 119677649 single base substitution G A missense_variant H402Y 1204C>T UCEC-US X 119677649 119677649 single base substitution G A missense_variant H415Y 1243C>T UCEC-US X 119677973 119677973 single base substitution C T missense_variant R212K 635G>A UCEC-US X 119677973 119677973 single base substitution C T missense_variant R390K 1169G>A UCEC-US X 119677973 119677973 single base substitution C T missense_variant R395K 1184G>A UCEC-US X 119677973 119677973 single base substitution C T missense_variant R408K 1223G>A UCEC-US X 119677988 119677988 single base substitution T G missense_variant K207T 620A>C UCEC-US X 119677988 119677988 single base substitution T G missense_variant K385T 1154A>C UCEC-US X 119677988 119677988 single base substitution T G missense_variant K390T 1169A>C UCEC-US X 119677988 119677988 single base substitution T G missense_variant K403T 1208A>C UCEC-US X 119678368 119678368 single base substitution G A stop_gained R173* 517C>T UCEC-US X 119678368 119678368 single base substitution G A stop_gained R351* 1051C>T UCEC-US X 119678368 119678368 single base substitution G A stop_gained R356* 1066C>T UCEC-US X 119678368 119678368 single base substitution G A stop_gained R369* 1105C>T UCEC-US X 119678399 119678399 single base substitution C T synonymous_variant R162R 486G>A UCEC-US X 119678399 119678399 single base substitution C T synonymous_variant R340R 1020G>A UCEC-US X 119678399 119678399 single base substitution C T synonymous_variant R345R 1035G>A UCEC-US X 119678399 119678399 single base substitution C T synonymous_variant R358R 1074G>A UCEC-US X 119679338 119679338 single base substitution C A missense_variant R116I 347G>T UCEC-US X 119679338 119679338 single base substitution C A missense_variant R294I 881G>T UCEC-US X 119679338 119679338 single base substitution C A missense_variant R299I 896G>T UCEC-US X 119679338 119679338 single base substitution C A missense_variant R312I 935G>T UCEC-US X 119680466 119680466 single base substitution G T stop_gained S261* 782C>A UCEC-US X 119680466 119680466 single base substitution G T stop_gained S266* 797C>A UCEC-US X 119680466 119680466 single base substitution G T stop_gained S279* 836C>A UCEC-US X 119680466 119680466 single base substitution G T stop_gained S83* 248C>A UCEC-US X 119680992 119680992 single base substitution C A stop_gained E259* 775G>T UCEC-US X 119680992 119680992 single base substitution C A stop_gained E264* 790G>T UCEC-US X 119680992 119680992 single base substitution C A stop_gained E277* 829G>T UCEC-US X 119680992 119680992 single base substitution C A stop_gained E81* 241G>T UCEC-US X 119681008 119681008 single base substitution C T synonymous_variant Q253Q 759G>A UCEC-US X 119681008 119681008 single base substitution C T synonymous_variant Q258Q 774G>A UCEC-US X 119681008 119681008 single base substitution C T synonymous_variant Q271Q 813G>A UCEC-US X 119681008 119681008 single base substitution C T synonymous_variant Q75Q 225G>A UCEC-US X 119691816 119691816 single base substitution C A exon_variant UCEC-US X 119691816 119691816 single base substitution C A missense_variant S212I 635G>T UCEC-US X 119691816 119691816 single base substitution C A missense_variant S217I 650G>T UCEC-US X 119691816 119691816 single base substitution C A missense_variant S230I 689G>T UCEC-US X 119691816 119691816 single base substitution C A missense_variant S34I 101G>T UCEC-US X 119691832 119691832 single base substitution C T exon_variant UCEC-US X 119691832 119691832 single base substitution C T missense_variant E207K 619G>A UCEC-US X 119691832 119691832 single base substitution C T missense_variant E212K 634G>A UCEC-US X 119691832 119691832 single base substitution C T missense_variant E225K 673G>A UCEC-US X 119691832 119691832 single base substitution C T missense_variant E29K 85G>A UCEC-US X 119691870 119691870 single base substitution T C exon_variant UCEC-US X 119691870 119691870 single base substitution T C missense_variant Y16C 47A>G UCEC-US X 119691870 119691870 single base substitution T C missense_variant Y194C 581A>G UCEC-US X 119691870 119691870 single base substitution T C missense_variant Y199C 596A>G UCEC-US X 119691870 119691870 single base substitution T C missense_variant Y212C 635A>G UCEC-US X 119694054 119694054 single base substitution G T exon_variant UCEC-US X 119694054 119694054 single base substitution G T missense_variant S147Y 440C>A UCEC-US X 119694054 119694054 single base substitution G T missense_variant S152Y 455C>A UCEC-US X 119694054 119694054 single base substitution G T missense_variant S165Y 494C>A UCEC-US X 119694054 119694054 single base substitution G T upstream_gene_variant UCEC-US X 119694089 119694089 single base substitution C A exon_variant UCEC-US X 119694089 119694089 single base substitution C A missense_variant Q135H 405G>T UCEC-US X 119694089 119694089 single base substitution C A missense_variant Q140H 420G>T UCEC-US X 119694089 119694089 single base substitution C A missense_variant Q153H 459G>T UCEC-US X 119694089 119694089 single base substitution C A upstream_gene_variant UCEC-US X 119694270 119694270 single base substitution G A exon_variant UCEC-US X 119694270 119694270 single base substitution G A missense_variant S75L 224C>T UCEC-US X 119694270 119694270 single base substitution G A missense_variant S80L 239C>T UCEC-US X 119694270 119694270 single base substitution G A missense_variant S93L 278C>T UCEC-US X 119694270 119694270 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK027_C01 COSM1636359 c.1227+1G>T p.? Unknown 23:120544113-120544113 - PT45 COSM5927939 c.1841G>A p.R614H Substitution - Missense 23:120538725-120538725 - Gp5D COSM2723901 c.1433A>G p.Q478R Substitution - Missense 23:120541666-120541666 - TCGA-BH-A18F-01 COSM456641 c.684G>T p.Q228H Substitution - Missense 23:120557966-120557966 - LUAD-NYU669 COSM375954 c.385G>A p.G129R Substitution - Missense 23:120560308-120560308 - ML_86_T_01 COSM5037672 c.1679C>T p.A560V Substitution - Missense 23:120540381-120540381 - STC246 COSM5064321 c.857_858insT p.L286fs*5 Insertion - Frameshift 23:120546589-120546590 - TCGA-EK-A2R8-01 COSM4822839 c.1125G>C p.L375L Substitution - coding silent 23:120544493-120544493 - TCGA-BC-A217-01 COSM4936835 c.2162T>G p.L721R Substitution - Missense 23:120535882-120535882 - TCGA-BI-A0VS-01 COSM1294486 c.1042G>C p.D348H Substitution - Missense 23:120544576-120544576 - ME016T COSM225114 c.2717C>T p.P906L Substitution - Missense 23:120526786-120526786 - TCGA-GD-A3OP-01 COSM1315153 c.1999C>T p.Q667* Substitution - Nonsense 23:120537028-120537028 - TCGA-D1-A16Y-01 COSM1114151 c.673G>A p.E225K Substitution - Missense 23:120557977-120557977 - pfg019T COSM1643935 c.858_859insT p.K287fs*1 Insertion - Frameshift 23:120546588-120546589 - SJHGG002_D COSM4968715 c.44A>T p.E15V Substitution - Missense 23:120574574-120574574 - 07-P8041 COSM4589150 c.496T>C p.S166P Substitution - Missense 23:120560197-120560197 - SNUH_G26_S1 COSM3681528 c.2721C>T p.N907N Substitution - coding silent 23:120526782-120526782 - C086 COSM5529408 c.2389C>T p.P797S Substitution - Missense 23:120532526-120532526 - TCGA-D3-A2JO-06 COSM3557342 c.32G>A p.G11E Substitution - Missense 23:120574586-120574586 - T55 COSM4675599 c.254C>T p.T85I Substitution - Missense 23:120560439-120560439 - TCGA-BS-A0UV-01 COSM1114133 c.935G>T p.R312I Substitution - Missense 23:120545483-120545483 - TCGA-AX-A060-01 COSM1114097 c.2217T>C p.G739G Substitution - coding silent 23:120534584-120534584 - TCGA-BR-8487-01 COSM2723893 c.1509C>T p.S503S Substitution - coding silent 23:120540551-120540551 - PT34 COSM5911097 c.31G>A p.G11R Substitution - Missense 23:120574587-120574587 - TCGA-13-2066-01 COSM1331303 c.420C>T p.S140S Substitution - coding silent 23:120560273-120560273 - TCGA-EI-6917-01 COSM3424411 c.746C>A p.S249Y Substitution - Missense 23:120547220-120547220 - TCGA-D1-A17Q-01 COSM1114121 c.1223G>A p.R408K Substitution - Missense 23:120544118-120544118 - PD4120a COSM160280 c.827G>C p.R276T Substitution - Missense 23:120547139-120547139 - TCGA-BS-A0UV-01 COSM1114100 c.2086C>T p.H696Y Substitution - Missense 23:120536941-120536941 - TCGA-ER-A19P-06 COSM3557333 c.1468C>T p.L490F Substitution - Missense 23:120541631-120541631 - TCGA-BR-A4QL-01 COSM4106259 c.701A>G p.K234R Substitution - Missense 23:120557949-120557949 - CSCC-60-T COSM4568258 c.1053T>C p.L351L Substitution - coding silent 23:120544565-120544565 - TCGA-A8-A09G-01 COSM456635 c.2683G>A p.D895N Substitution - Missense 23:120526820-120526820 - Br27P COSM40816 c.109G>A p.E37K Substitution - Missense 23:120560584-120560584 - T2418 COSM4675593 c.591A>T p.L197F Substitution - Missense 23:120560102-120560102 - PT08_1 COSM5894146 c.2605C>T p.L869F Substitution - Missense 23:120530143-120530143 - T578 COSM4675596 c.348G>T p.Q116H Substitution - Missense 23:120560345-120560345 - PCSI_0083_Pa_P COSM3379487 c.2579T>C p.M860T Substitution - Missense 23:120530169-120530169 - PD11372a COSM5767247 c.2457C>A p.F819L Substitution - Missense 23:120532458-120532458 - PD11366a COSM5779677 c.2327G>A p.G776E Substitution - Missense 23:120532588-120532588 - TCGA-A2-A0YK-01 COSM456637 c.1003C>T p.H335Y Substitution - Missense 23:120544615-120544615 - Pat_40_A COSM1465287 c.429_431delCTC p.S146delS Deletion - In frame 23:120560262-120560264 - LUAD-S01315 COSM385769 c.218G>C p.R73T Substitution - Missense 23:120560475-120560475 - CHC892T COSM4797402 c.161C>T p.A54V Substitution - Missense 23:120560532-120560532 - I2L-P10-Tumor-Organoid COSM5366802 c.1212A>G p.L404L Substitution - coding silent 23:120544129-120544129 - TCGA-DK-A3WW-01 COSM3800375 c.2124C>G p.F708L Substitution - Missense 23:120535920-120535920 - PD8964a COSM5782281 c.2545C>G p.Q849E Substitution - Missense 23:120530203-120530203 - Gp5D COSM2723903 c.1308C>A p.T436T Substitution - coding silent 23:120543729-120543729 - TCGA-AA-A02J-01 COSM287525 c.796G>C p.D266H Substitution - Missense 23:120547170-120547170 - LUAD-NYU1021 COSM356586 c.273G>T p.R91S Substitution - Missense 23:120560420-120560420 - TCGA-B5-A0JY-01 COSM1114160 c.459G>T p.Q153H Substitution - Missense 23:120560234-120560234 - 587376 COSM1202690 c.1094G>T p.R365I Substitution - Missense 23:120544524-120544524 - BZ05 COSM1465287 c.429_431delCTC p.S146delS Deletion - In frame 23:120560262-120560264 - TCGA-BR-8680-01 COSM4106263 c.223G>T p.D75Y Substitution - Missense 23:120560470-120560470 - TCGA-EA-A5ZF-01 COSM4838202 c.1641A>C p.A547A Substitution - coding silent 23:120540419-120540419 - TCGA-E9-A243-01 COSM1490431 c.1694A>T p.K565M Substitution - Missense 23:120539369-120539369 - Gp2D COSM2723903 c.1308C>A p.T436T Substitution - coding silent 23:120543729-120543729 - ESCC_BICR_040T COSM5430242 c.2545C>T p.Q849* Substitution - Nonsense 23:120530203-120530203 - HCC12 COSM1625449 c.225C>T p.D75D Substitution - coding silent 23:120560468-120560468 - HN_63080 COSM127747 c.414C>A p.S138S Substitution - coding silent 23:120560279-120560279 - PT51 COSM5938476 c.1810G>A p.E604K Substitution - Missense 23:120538756-120538756 - TCGA-AP-A056-01 COSM1114145 c.813G>A p.Q271Q Substitution - coding silent 23:120547153-120547153 - ESCC_75 COSM5634979 c.1761G>A p.L587L Substitution - coding silent 23:120539302-120539302 - T368 COSM4675569 c.2505A>G p.Q835Q Substitution - coding silent 23:120530243-120530243 - TCGA-BH-A0EE-01 COSM456639 c.942C>A p.Y314* Substitution - Nonsense 23:120545476-120545476 - TCGA-A5-A0GA-01 COSM1114103 c.1990C>T p.Q664* Substitution - Nonsense 23:120538126-120538126 - TCGA-EE-A29E-06 COSM3557329 c.2494-1G>A p.? Unknown 23:120530255-120530255 - NCI-H128 COSM22082 c.110_112delAGG p.E37delE Deletion - In frame 23:120560581-120560583 - TCGA-BT-A20O-01 COSM422250 c.218G>A p.R73K Substitution - Missense 23:120560475-120560475 - TCGA-A8-A06R-01 COSM456643 c.413C>G p.S138C Substitution - Missense 23:120560280-120560280 - RK226_C01 COSM3701789 c.2023A>G p.I675V Substitution - Missense 23:120537004-120537004 - PCSI_0083_Pa_X COSM3379487 c.2579T>C p.M860T Substitution - Missense 23:120530169-120530169 - TCGA-G4-6588-01 COSM1465283 c.1112T>A p.L371H Substitution - Missense 23:120544506-120544506 - YUSIV COSM5411880 c.1561G>A p.D521N Substitution - Missense 23:120540499-120540499 - S02255 COSM5681052 c.740T>A p.L247H Substitution - Missense 23:120547226-120547226 - TCGA-D1-A103-01 COSM1114154 c.635A>G p.Y212C Substitution - Missense 23:120558015-120558015 - TCGA-BR-4280-01 COSM4106248 c.2184A>G p.G728G Substitution - coding silent 23:120535860-120535860 - 40_FL COSM4171912 c.2558C>A p.A853E Substitution - Missense 23:120530190-120530190 - TCGA-BS-A0UL-01 COSM1114109 c.1915G>A p.A639T Substitution - Missense 23:120538201-120538201 - 2492700 COSM5716048 c.962T>A p.L321Q Substitution - Missense 23:120545456-120545456 - NCI-H128 COSM22082 c.110_112delAGG p.E37delE Deletion - In frame 23:120560581-120560583 - TCGA-B5-A0JY-01 COSM1114112 c.1552G>T p.E518* Substitution - Nonsense 23:120540508-120540508 - MO_1013 COSM5553076 c.735A>C p.E245D Substitution - Missense 23:120547231-120547231 - TCGA-EI-6917-01 COSM1114127 c.1105C>T p.R369* Substitution - Nonsense 23:120544513-120544513 - LUAD-CHTN-MAD08-00104 COSM361330 c.2493+1G>T p.? Unknown 23:120532421-120532421 - OSCC-GB_00800111 COSM4887824 c.2116G>T p.E706* Substitution - Nonsense 23:120535928-120535928 - PD4965a COSM5798102 c.229G>A p.D77N Substitution - Missense 23:120560464-120560464 - TCGA-AA-3672-01 COSM266321 c.1575G>T p.K525N Substitution - Missense 23:120540485-120540485 - S00827 COSM310416 c.879G>A p.W293* Substitution - Nonsense 23:120546568-120546568 - CHC892T COSM4794342 c.2153G>A p.G718D Substitution - Missense 23:120535891-120535891 - ESO-0292 COSM1241054 c.426_431delCTCCTC p.S145_S146delSS Deletion - In frame 23:120560262-120560267 - NB07C COSM1236411 c.915C>A p.S305R Substitution - Missense 23:120545503-120545503 - tumor_4160100 COSM5949271 c.170G>T p.R57I Substitution - Missense 23:120560523-120560523 - HCC12T COSM1625449 c.225C>T p.D75D Substitution - coding silent 23:120560468-120560468 - SK-OV-3 COSM1682845 c.2042T>C p.I681T Substitution - Missense 23:120536985-120536985 - TCGA-G4-6625-01 COSM1465279 c.2371A>G p.R791G Substitution - Missense 23:120532544-120532544 - TCGA-AP-A0LM-01 COSM1114088 c.2569A>T p.I857F Substitution - Missense 23:120530179-120530179 - TCGA-DG-A2KM-01 COSM4851693 c.1144C>G p.Q382E Substitution - Missense 23:120544197-120544197 - TCGA-AX-A0J1-01 COSM1114118 c.1243C>T p.H415Y Substitution - Missense 23:120543794-120543794 - PCSI_0083_Pa_P_526 COSM3379487 c.2579T>C p.M860T Substitution - Missense 23:120530169-120530169 - TCGA-D1-A17Q-01 COSM1114163 c.278C>T p.S93L Substitution - Missense 23:120560415-120560415 - SJHGG002_A COSM4968715 c.44A>T p.E15V Substitution - Missense 23:120574574-120574574 - TCGA-AX-A0J0-01 COSM1114157 c.494C>A p.S165Y Substitution - Missense 23:120560199-120560199 - TCGA-BS-A0UV-01 COSM1114142 c.829G>T p.E277* Substitution - Nonsense 23:120547137-120547137 - C086 COSM5529411 c.1300C>T p.Q434* Substitution - Nonsense 23:120543737-120543737 - TCGA-AN-A049-01 COSM202382 c.1106G>A p.R369Q Substitution - Missense 23:120544512-120544512 - TCGA-D1-A17Q-01 COSM1114106 c.1925C>T p.T642I Substitution - Missense 23:120538191-120538191 - B60 COSM1756369 c.2580G>A p.M860I Substitution - Missense 23:120530168-120530168 - TCGA-D1-A16X-01 COSM1114124 c.1208A>C p.K403T Substitution - Missense 23:120544133-120544133 - ESCC-059T COSM3939768 c.781A>T p.R261* Substitution - Nonsense 23:120547185-120547185 - 255 COSM1666578 c.1311-10_1311-9delTT p.? Unknown 23:120543042-120543043 - 2492701 COSM5716048 c.962T>A p.L321Q Substitution - Missense 23:120545456-120545456 - TCGA-BS-A0UV-01 COSM1114091 c.2566C>T p.R856* Substitution - Nonsense 23:120530182-120530182 - TCGA-EE-A2GO-06 COSM3557340 c.416C>T p.S139F Substitution - Missense 23:120560277-120560277 - T2269 COSM4675578 c.1450C>T p.R484* Substitution - Nonsense 23:120541649-120541649 - SJDOSTEOS006 COSM5759914 c.1200A>G p.E400E Substitution - coding silent 23:120544141-120544141 - CHC892T COSM4797402 c.161C>T p.A54V Substitution - Missense 23:120560532-120560532 - LUAD-F00057 COSM365537 c.1183C>T p.R395W Substitution - Missense 23:120544158-120544158 - RK006_C02 COSM1636361 c.1056C>G p.L352L Substitution - coding silent 23:120544562-120544562 - S00934 COSM5662971 c.541A>C p.T181P Substitution - Missense 23:120560152-120560152 - RK245_C01 COSM4945130 c.686A>G p.N229S Substitution - Missense 23:120557964-120557964 - PT08_2 COSM5894146 c.2605C>T p.L869F Substitution - Missense 23:120530143-120530143 - TCGA-AX-A05Z-01 COSM1114139 c.836C>A p.S279* Substitution - Nonsense 23:120546611-120546611 - CSCC-19-T COSM4495528 c.455C>T p.S152F Substitution - Missense 23:120560238-120560238 - PT08_1 COSM5529408 c.2389C>T p.P797S Substitution - Missense 23:120532526-120532526 - TCGA-56-6545-01 COSM755621 c.2727C>A p.Y909* Substitution - Nonsense 23:120526776-120526776 - PT16_1 COSM5898650 c.1372C>T p.Q458* Substitution - Nonsense 23:120542972-120542972 - Pa07C COSM85242 c.329C>T p.S110F Substitution - Missense 23:120560364-120560364 - E18 COSM1666578 c.1311-10_1311-9delTT p.? Unknown 23:120543042-120543043 - TCGA-BP-4782-01 COSM487879 c.522C>A p.N174K Substitution - Missense 23:120560171-120560171 - OSCC-GB_01070111 COSM4889294 c.2372G>C p.R791T Substitution - Missense 23:120532543-120532543 - BK0026 COSM4186578 c.842A>G p.D281G Substitution - Missense 23:120546605-120546605 - TCGA-B5-A0JY-01 COSM1114127 c.1105C>T p.R369* Substitution - Nonsense 23:120544513-120544513 - 40_tFL COSM4171912 c.2558C>A p.A853E Substitution - Missense 23:120530190-120530190 - TCGA-BR-A4QL-01 COSM4106255 c.707A>T p.N236I Substitution - Missense 23:120557943-120557943 - LUAD-NYU669 COSM375952 c.1051C>G p.L351V Substitution - Missense 23:120544567-120544567 - BD110T COSM5514383 c.1311-9delT p.? Unknown 23:120543042-120543042 - TCGA-GN-A266-06 COSM2723889 c.1628C>T p.A543V Substitution - Missense 23:120540432-120540432 - 2217536 COSM4421530 c.2174C>T p.S725L Substitution - Missense 23:120535870-120535870 - LUAD-B02594 COSM356586 c.273G>T p.R91S Substitution - Missense 23:120560420-120560420 - Pat_46_B COSM5876975 c.617C>T p.P206L Substitution - Missense 23:120558033-120558033 - T2940 COSM4675585 c.1015G>T p.D339Y Substitution - Missense 23:120544603-120544603 - HCC2998 COSM1682847 c.1952A>G p.D651G Substitution - Missense 23:120538164-120538164 - C086 COSM5529405 c.86C>T p.P29L Substitution - Missense 23:120560607-120560607 - TCGA-D1-A103-01 COSM1114130 c.1074G>A p.R358R Substitution - coding silent 23:120544544-120544544 - TCGA-BR-8680-01 COSM4106251 c.1755A>C p.K585N Substitution - Missense 23:120539308-120539308 - TCGA-EE-A2MS-06 COSM3557336 c.886C>T p.H296Y Substitution - Missense 23:120546561-120546561 - TCGA-A5-A0GA-01 COSM1114094 c.2240T>C p.L747P Substitution - Missense 23:120534561-120534561 - T207 COSM4675575 c.1852G>A p.G618R Substitution - Missense 23:120538714-120538714 - TCGA-HT-A615-01 COSM462329 c.2212G>C p.E738Q Substitution - Missense 23:120535832-120535832 - T3090 COSM4675572 c.1906G>A p.E636K Substitution - Missense 23:120538660-120538660 - PD4195a COSM160282 c.2638C>A p.P880T Substitution - Missense 23:120530110-120530110 - 296_T COSM3964641 c.1264G>C p.E422Q Substitution - Missense 23:120543773-120543773 - Gp2D COSM2723901 c.1433A>G p.Q478R Substitution - Missense 23:120541666-120541666 - TCGA-D1-A17Q-01 COSM1114148 c.689G>T p.S230I Substitution - Missense 23:120557961-120557961 - TCGA-D1-A174-01 COSM1114136 c.846C>T p.S282S Substitution - coding silent 23:120546601-120546601 - TCGA-BR-4361-01 COSM4106265 c.48T>C p.A16A Substitution - coding silent 23:120574570-120574570 - CHC892T COSM4794342 c.2153G>A p.G718D Substitution - Missense 23:120535891-120535891 - HCC2998 COSM1682847 c.1952A>G p.D651G Substitution - Missense 23:120538164-120538164 - S00827 COSM310416 c.879G>A p.W293* Substitution - Nonsense 23:120546568-120546568 - TCGA-D1-A17U-01 COSM1114115 c.1451G>A p.R484Q Substitution - Missense 23:120541648-120541648 - TCGA-AX-A0J0-01 COSM1114085 c.2577G>T p.K859N Substitution - Missense 23:120530171-120530171 - TCGA-85-6561-01 COSM755619 c.2598C>A p.H866Q Substitution - Missense 23:120530150-120530150 - T2269 COSM4675581 c.1163G>A p.R388Q Substitution - Missense 23:120544178-120544178 - RK169_C01 COSM3701792 c.979A>G p.M327V Substitution - Missense 23:120544639-120544639 - ASHPC_0026_Pa_P COSM4807289 c.472A>C p.K158Q Substitution - Missense 23:120560221-120560221 - EGC15 COSM5064317 c.923delT p.L308fs*30 Deletion - Frameshift 23:120545495-120545495 - ZZUFHECRKL-G071T COSM5439030 c.2567G>A p.R856Q Substitution - Missense 23:120530181-120530181 - TCGA-39-5030-01 COSM755615 c.845G>T p.S282I Substitution - Missense 23:120546602-120546602 - PT08_2 COSM5529408 c.2389C>T p.P797S Substitution - Missense 23:120532526-120532526 - PD4874a COSM5787734 c.1414G>A p.D472N Substitution - Missense 23:120541685-120541685 - 2492702 COSM5716048 c.962T>A p.L321Q Substitution - Missense 23:120545456-120545456 - 587226 COSM1202688 c.548T>C p.V183A Substitution - Missense 23:120560145-120560145 - TCGA-AA-3819-01 COSM270914 c.2047A>T p.T683S Substitution - Missense 23:120536980-120536980 - TCGA-C5-A1ME-01 COSM4820619 c.80C>A p.P27H Substitution - Missense 23:120560613-120560613 - HCC2998 COSM2723895 c.1486G>A p.E496K Substitution - Missense 23:120541613-120541613 - TCGA-FS-A4F5-06 COSM3557343 c.20G>A p.G7E Substitution - Missense 23:120574598-120574598 - 2492703 COSM5716048 c.962T>A p.L321Q Substitution - Missense 23:120545456-120545456 - Pat_70_B COSM1465287 c.429_431delCTC p.S146delS Deletion - In frame 23:120560262-120560264 - HT29 COSM4638657 c.1953C>T p.D651D Substitution - coding silent 23:120538163-120538163 - TCGA-34-5929-01 COSM755611 c.451A>T p.T151S Substitution - Missense 23:120560242-120560242 - TCGA-21-1070-01 COSM755613 c.574G>C p.G192R Substitution - Missense 23:120560119-120560119 - TCGA-GF-A6C8-06 COSM202382 c.1106G>A p.R369Q Substitution - Missense 23:120544512-120544512 - B60-Tumor COSM1756369 c.2580G>A p.M860I Substitution - Missense 23:120530168-120530168 - I2L-P19Ta-Tumor-Organoid COSM5064317 c.923delT p.L308fs*30 Deletion - Frameshift 23:120545495-120545495 - I2L-P19Ta-Tumor-Biopsy COSM5366997 c.223G>A p.D75N Substitution - Missense 23:120560470-120560470 - TCGA-AC-A23H-01 COSM3843428 c.643G>A p.E215K Substitution - Missense 23:120558007-120558007 - ESCC_130 COSM5642146 c.1776C>T p.I592I Substitution - coding silent 23:120539287-120539287 - TCGA-BI-A0VR-01 COSM462329 c.2212G>C p.E738Q Substitution - Missense 23:120535832-120535832 - I2L-P19Ta-Tumor-Organoid COSM5366997 c.223G>A p.D75N Substitution - Missense 23:120560470-120560470 - HT115 COSM4638441 c.2381C>T p.A794V Substitution - Missense 23:120532534-120532534 - T578 COSM4675589 c.814A>C p.I272L Substitution - Missense 23:120547152-120547152 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.102890;Hs.102896;Hs.102914 Xq23 300304

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F534C c.1601T>G X 119674314 CM - A Frameshift p.L286Ffs*5 c.857dupT X 119680446 STAD A G Missense p.V487A c.1460T>C X 119675494 STAD A G Synonymous p.G739G c.2217T>C X 119668439 UCEC A G Synonymous p.T17T c.51T>C X 119708422 LGG - A IntronicInsertion . c.2214+125dupT X 119669560 CM C A Missense p.D466Y c.1396G>T X 119675558 CM C A Missense p.M652I c.1956G>T X 119672015 CM C A Missense p.Q228H c.684G>T X 119691821 BRCA C A Missense p.S282I c.845G>T X 119680457 LUSC C A Nonsense p.G618* c.1852G>T X 119672569 LUAD C G Missense p.D266H c.796G>C X 119681025 COREAD C G Missense p.D812H c.2434G>C X 119666336 HNSC C G Missense p.G192R c.574G>C X 119693974 LUSC C G Missense p.K888N c.2664G>C X 119660694 LUAD C G Missense p.R276T c.827G>C X 119680994 BRCA C G Missense p.R820S c.2460G>C X 119666310 MM C T Missense p.A639T c.1915G>A X 119672056 UCEC C T Missense p.E225K c.673G>A X 119691832 UCEC C T Missense p.E900K c.2698G>A X 119660660 HNSC C T Missense p.G11E c.32G>A X 119708441 CM C T Missense p.R369Q c.1106G>A X 119678367 BRCA C T Missense p.R484Q c.1451G>A X 119675503 UCEC C T Missense p.R73K c.218G>A X 119694330 BLCA C T Missense p.R856Q c.2567G>A X 119664036 CM C T Missense p.S110F c.329C>T X 119694219 PAAD C T Nonsense p.W293* c.879G>A X 119680423 SCLC C T Synonymous p.S169S c.507G>A X 119694041 CM GAG - InFrameDeletion p.S146delS c.429_431delCTC X 119694117 THCA G A IntronicSNV . c.68-3C>T X 119694483 STAD G A Missense p.E37K c.109G>A X 119694439 GBM G A Missense p.H296Y c.886C>T X 119680416 CM G A Missense p.H335Y c.1003C>T X 119678470 BRCA G A Missense p.L490F c.1468C>T X 119675486 CM G A Missense p.P906L c.2717C>T X 119660641 CM G A Missense p.S139F c.416C>T X 119694132 CM G A Missense p.S631F c.1892C>T X 119672529 CM G A Missense p.S95F c.284C>T X 119694264 MM G A Nonsense p.Q36* c.106C>T X 119694442 HNSC G A Nonsense p.Q667* c.1999C>T X 119670883 BLCA GCAACAA - IntronicDeletion . c.2215-433_2215-427delTGTTGCT X 119668869 CLL G C Missense p.S138C c.413C>G X 119694135 BRCA G C Synonymous p.L352L c.1056C>G X 119678417 HC G T IntronicSNV . c.611-522C>A X 119692416 PIA G T Missense p.H866Q c.2598C>A X 119664005 LUSC G T Missense p.N174K c.522C>A X 119694026 RCCC G T Missense p.P880T c.2638C>A X 119663965 BRCA G T Missense p.S305R c.915C>A X 119679358 NB G T Nonsense p.Y314* c.942C>A X 119679331 BRCA G T Nonsense p.Y909* c.2727C>A X 119660631 LUSC G T Synonymous p.I767I c.2301C>A X 119668355 LUAD G T Synonymous p.S138S c.414C>A X 119694134 HNSC G T Synonymous p.S631S c.1893C>A X 119672528 HNSC G T Synonymous p.T124T c.372C>A X 119694176 LUAD T A Missense p.K565M c.1694A>T X 119673224 BRCA T A Missense p.T151S c.451A>T X 119694097 LUSC T A Missense p.T683S c.2047A>T X 119670835 COREAD T A SpliceAcceptorSNV . c.1138-2A>T X 119678060 LUAD T A Synonymous p.T863T c.2589A>T X 119664014 LUAD T C IntronicSNV . c.1907-23A>G X 119672087 CM T C SpliceAcceptorSNV . c.611-2A>G X 119691896 LGG T C Synonymous p.G728G c.2184A>G X 119669715 STAD T G Missense p.Y431S c.1292A>C X 119677600 HNSC