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 47092358 47092358 + Silent SNP C C T TCGA-GU-AATQ-01A-11D-A391-08 TCGA-GU-AATQ-10A-01D-A394-08 g.chrX:47092358C>T c.45C>T c.(43-45)ttC>ttT p.F15F BLCA 23 47092405 47092405 + Missense_Mutation SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chrX:47092405C>T c.92C>T c.(91-93)tCg>tTg p.S31L BLCA 23 47092454 47092454 + Silent SNP C C T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chrX:47092454C>T c.141C>T c.(139-141)gtC>gtT p.V47V BLCA 23 47100681 47100681 + Silent SNP C C A TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chrX:47100681C>A c.981C>A c.(979-981)ctC>ctA p.L327L BLCA 23 47101874 47101874 + Missense_Mutation SNP G G C TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chrX:47101874G>C c.1570G>C c.(1570-1572)Gat>Cat p.D524H BLCA 23 47101903 47101903 + Silent SNP G G A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chrX:47101903G>A c.1599G>A c.(1597-1599)acG>acA p.T533T BLCA 23 47102076 47102076 + Missense_Mutation SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chrX:47102076G>A c.1669G>A c.(1669-1671)Gag>Aag p.E557K BLCA 23 47104311 47104311 + Missense_Mutation SNP G G A TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chrX:47104311G>A c.2203G>A c.(2203-2205)Gaa>Aaa p.E735K BLCA 23 47104477 47104477 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chrX:47104477G>A c.2278G>A c.(2278-2280)Gag>Aag p.E760K BRCA 23 47092577 47092577 + Silent SNP C C T TCGA-B6-A0IO-01A-11W-A050-09 TCGA-B6-A0IO-10A-01W-A055-09 g.chrX:47092577C>T c.264C>T c.(262-264)ggC>ggT p.G88G BRCA 23 47098833 47098833 + Missense_Mutation SNP G G T TCGA-AC-A3W5-01A-11D-A228-09 TCGA-AC-A3W5-10A-01D-A22A-09 g.chrX:47098833G>T c.499G>T c.(499-501)Gtc>Ttc p.V167F BRCA 23 47100714 47100714 + Silent SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:47100714C>G c.1014C>G c.(1012-1014)ctC>ctG p.L338L BRCA 23 47101513 47101513 + Silent SNP A A G TCGA-E2-A10A-01A-21D-A10Y-09 TCGA-E2-A10A-10A-01D-A110-09 g.chrX:47101513A>G c.1341A>G c.(1339-1341)aaA>aaG p.K447K BRCA 23 47101698 47101698 + Missense_Mutation SNP C C T TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chrX:47101698C>T c.1526C>T c.(1525-1527)cCa>cTa p.P509L BRCA 23 47104784 47104784 + Missense_Mutation SNP G G A TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chrX:47104784G>A c.2302G>A c.(2302-2304)Gac>Aac p.D768N BRCA 23 47104842 47104842 + Missense_Mutation SNP T T C TCGA-OL-A5RW-01A-11D-A28B-09 TCGA-OL-A5RW-10A-01D-A28E-09 g.chrX:47104842T>C c.2360T>C c.(2359-2361)cTc>cCc p.L787P CESC 23 47098791 47098791 + Missense_Mutation SNP G G A TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chrX:47098791G>A c.457G>A c.(457-459)Gag>Aag p.E153K CESC 23 47101546 47101546 + Silent SNP C C T TCGA-C5-A1BJ-01A-11D-A13W-08 TCGA-C5-A1BJ-10A-01D-A13W-08 g.chrX:47101546C>T c.1374C>T c.(1372-1374)ttC>ttT p.F458F CESC 23 47104246 47104246 + Missense_Mutation SNP G G A TCGA-FU-A3NI-01A-11D-A21Q-09 TCGA-FU-A3NI-10A-01D-A21Q-09 g.chrX:47104246G>A c.2138G>A c.(2137-2139)cGc>cAc p.R713H CESC 23 47106535 47106535 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chrX:47106535G>A c.2464G>A c.(2464-2466)Gag>Aag p.E822K CESC 23 47106541 47106541 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chrX:47106541C>G c.2470C>G c.(2470-2472)Ctc>Gtc p.L824V CESC 23 47106743 47106743 + Missense_Mutation SNP G G A TCGA-C5-A1MJ-01A-11D-A14W-08 TCGA-C5-A1MJ-10A-01D-A14W-08 g.chrX:47106743G>A c.2590G>A c.(2590-2592)Gag>Aag p.E864K CESC 23 47106748 47106748 + Silent SNP G G A TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chrX:47106748G>A c.2595G>A c.(2593-2595)tcG>tcA p.S865S COAD 23 47098812 47098812 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:47098812G>A c.478G>A c.(478-480)Gca>Aca p.A160T COAD 23 47098863 47098863 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chrX:47098863C>T c.529C>T c.(529-531)Cca>Tca p.P177S COAD 23 47099757 47099757 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:47099757A>G c.718A>G c.(718-720)Act>Gct p.T240A COAD 23 47100031 47100031 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:47100031G>A c.856G>A c.(856-858)Gca>Aca p.A286T COAD 23 47100031 47100031 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47100031G>A c.856G>A c.(856-858)Gca>Aca p.A286T COAD 23 47100744 47100744 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chrX:47100744C>T c.1044C>T c.(1042-1044)ttC>ttT p.F348F COAD 23 47101517 47101517 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:47101517C>T c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W COAD 23 47101537 47101537 + Silent SNP G G T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:47101537G>T c.1365G>T c.(1363-1365)gtG>gtT p.V455V COAD 23 47101911 47101911 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chrX:47101911C>T c.1607C>T c.(1606-1608)tCg>tTg p.S536L COAD 23 47102831 47102831 + Silent SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:47102831C>A c.1749C>A c.(1747-1749)ggC>ggA p.G583G COAD 23 47103933 47103933 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:47103933C>T c.1956C>T c.(1954-1956)gaC>gaT p.D652D COAD 23 47103936 47103937 + Frame_Shift_Ins INS - - G TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47103936_47103937insG c.1959_1960insG c.(1960-1962)gggfs p.G654fs COAD 23 47104274 47104274 + Silent SNP G G A TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chrX:47104274G>A c.2166G>A c.(2164-2166)gtG>gtA p.V722V COAD 23 47106744 47106744 + Missense_Mutation SNP A A T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chrX:47106744A>T c.2591A>T c.(2590-2592)gAg>gTg p.E864V COAD 23 47107230 47107230 + Silent SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chrX:47107230C>T c.2793C>T c.(2791-2793)gaC>gaT p.D931D COADREAD 23 47098812 47098812 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:47098812G>A c.478G>A c.(478-480)Gca>Aca p.A160T COADREAD 23 47098863 47098863 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chrX:47098863C>T c.529C>T c.(529-531)Cca>Tca p.P177S COADREAD 23 47099757 47099757 + Missense_Mutation SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chrX:47099757A>G c.718A>G c.(718-720)Act>Gct p.T240A COADREAD 23 47100031 47100031 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chrX:47100031G>A c.856G>A c.(856-858)Gca>Aca p.A286T COADREAD 23 47100031 47100031 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47100031G>A c.856G>A c.(856-858)Gca>Aca p.A286T COADREAD 23 47100744 47100744 + Silent SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chrX:47100744C>T c.1044C>T c.(1042-1044)ttC>ttT p.F348F COADREAD 23 47101517 47101517 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:47101517C>T c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W COADREAD 23 47101537 47101537 + Silent SNP G G T TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:47101537G>T c.1365G>T c.(1363-1365)gtG>gtT p.V455V COADREAD 23 47101911 47101911 + Missense_Mutation SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chrX:47101911C>T c.1607C>T c.(1606-1608)tCg>tTg p.S536L COADREAD 23 47102831 47102831 + Silent SNP C C A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:47102831C>A c.1749C>A c.(1747-1749)ggC>ggA p.G583G COADREAD 23 47102927 47102927 + Silent SNP C C T TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chrX:47102927C>T c.1845C>T c.(1843-1845)caC>caT p.H615H COADREAD 23 47103933 47103933 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chrX:47103933C>T c.1956C>T c.(1954-1956)gaC>gaT p.D652D COADREAD 23 47103936 47103937 + Frame_Shift_Ins INS - - G TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chrX:47103936_47103937insG c.1959_1960insG c.(1960-1962)gggfs p.G654fs COADREAD 23 47104274 47104274 + Silent SNP G G A TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chrX:47104274G>A c.2166G>A c.(2164-2166)gtG>gtA p.V722V COADREAD 23 47106744 47106744 + Missense_Mutation SNP A A T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chrX:47106744A>T c.2591A>T c.(2590-2592)gAg>gTg p.E864V COADREAD 23 47107215 47107215 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:47107215C>A c.2778C>A c.(2776-2778)ttC>ttA p.F926L COADREAD 23 47107230 47107230 + Silent SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chrX:47107230C>T c.2793C>T c.(2791-2793)gaC>gaT p.D931D DLBC 23 47092423 47092423 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chrX:47092423G>A c.110G>A c.(109-111)tGt>tAt p.C37Y DLBC 23 47092477 47092477 + Missense_Mutation SNP C C T TCGA-FF-8041-01A-11D-2210-10 TCGA-FF-8041-10A-01D-2210-10 g.chrX:47092477C>T c.164C>T c.(163-165)gCg>gTg p.A55V DLBC 23 47107038 47107038 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chrX:47107038C>T c.2694C>T c.(2692-2694)agC>agT p.S898S ESCA 23 47101642 47101642 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chrX:47101642C>G c.1470C>G c.(1468-1470)atC>atG p.I490M ESCA 23 47104088 47104088 + Silent SNP C C T TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chrX:47104088C>T c.1980C>T c.(1978-1980)gaC>gaT p.D660D ESCA 23 47104174 47104174 + Missense_Mutation SNP G G T TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chrX:47104174G>T c.2066G>T c.(2065-2067)gGa>gTa p.G689V GBM 23 47098522 47098522 + Missense_Mutation SNP G G A TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:47098522G>A c.359G>A c.(358-360)gGg>gAg p.G120E GBM 23 47102906 47102906 + Silent SNP C C T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chrX:47102906C>T c.1824C>T c.(1822-1824)taC>taT p.Y608Y GBM 23 47104414 47104414 + Splice_Site SNP G G C TCGA-12-0616-01A-01D-1492-08 TCGA-12-0616-10A-01D-1492-08 g.chrX:47104414G>C c.e16-1 GBM 23 47104414 47104414 + Splice_Site SNP G G C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chrX:47104414G>C c.e16-1 GBMLGG 23 47092455 47092455 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 g.chrX:47092455G>A c.142G>A c.(142-144)Gca>Aca p.A48T GBMLGG 23 47098481 47098481 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:47098481G>T c.318G>T c.(316-318)gaG>gaT p.E106D GBMLGG 23 47098522 47098522 + Missense_Mutation SNP G G A TCGA-06-0241-01A-02D-1491-08 TCGA-06-0241-10A-01D-1491-08 g.chrX:47098522G>A c.359G>A c.(358-360)gGg>gAg p.G120E GBMLGG 23 47099838 47099838 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chrX:47099838G>A c.799G>A c.(799-801)Gag>Aag p.E267K GBMLGG 23 47101045 47101045 + Missense_Mutation SNP G G A TCGA-DU-7008-01A-11D-2024-08 TCGA-DU-7008-10A-01D-2024-08 g.chrX:47101045G>A c.1255G>A c.(1255-1257)Gtg>Atg p.V419M GBMLGG 23 47101902 47101902 + Missense_Mutation SNP C C T TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 g.chrX:47101902C>T c.1598C>T c.(1597-1599)aCg>aTg p.T533M GBMLGG 23 47102906 47102906 + Silent SNP C C T TCGA-02-0055-01A-01D-1490-08 TCGA-02-0055-10A-01D-1490-08 g.chrX:47102906C>T c.1824C>T c.(1822-1824)taC>taT p.Y608Y GBMLGG 23 47104414 47104414 + Splice_Site SNP G G C TCGA-12-0616-01A-01D-1492-08 TCGA-12-0616-10A-01D-1492-08 g.chrX:47104414G>C c.e16-1 GBMLGG 23 47104414 47104414 + Splice_Site SNP G G C TCGA-16-0846-01A-01W-0424-08 TCGA-16-0846-10A-01W-0424-08 g.chrX:47104414G>C c.e16-1 GBMLGG 23 47104794 47104794 + Missense_Mutation SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 g.chrX:47104794G>A c.2312G>A c.(2311-2313)gGg>gAg p.G771E GBMLGG 23 47107222 47107222 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chrX:47107222C>T c.2785C>T c.(2785-2787)Cgc>Tgc p.R929C HNSC 23 47092374 47092374 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chrX:47092374G>A c.61G>A c.(61-63)Gaa>Aaa p.E21K HNSC 23 47098752 47098752 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chrX:47098752G>C c.418G>C c.(418-420)Gag>Cag p.E140Q HNSC 23 47100675 47100675 + Splice_Site SNP G G T TCGA-CX-A4AQ-01A-11D-A25D-08 TCGA-CX-A4AQ-10A-01D-A25E-08 g.chrX:47100675G>T c.e8-1 HNSC 23 47101692 47101692 + Missense_Mutation SNP G G A TCGA-CV-6003-01A-11D-1683-08 TCGA-CV-6003-11A-01D-1683-08 g.chrX:47101692G>A c.1520G>A c.(1519-1521)cGc>cAc p.R507H HNSC 23 47102104 47102104 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chrX:47102104G>A c.1697G>A c.(1696-1698)cGt>cAt p.R566H HNSC 23 47104856 47104856 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chrX:47104856G>A c.2374G>A c.(2374-2376)Gag>Aag p.E792K HNSC 23 47107270 47107270 + Missense_Mutation SNP G G T TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chrX:47107270G>T c.2833G>T c.(2833-2835)Gcc>Tcc p.A945S KICH 23 47092432 47092432 + Missense_Mutation SNP A A G TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chrX:47092432A>G c.119A>G c.(118-120)gAa>gGa p.E40G KIPAN 23 47092432 47092432 + Missense_Mutation SNP A A G TCGA-KN-8435-01A-11D-2310-10 TCGA-KN-8435-11A-01D-2311-10 g.chrX:47092432A>G c.119A>G c.(118-120)gAa>gGa p.E40G KIPAN 23 47100845 47100845 + Missense_Mutation SNP T T A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:47100845T>A c.1145T>A c.(1144-1146)tTc>tAc p.F382Y KIPAN 23 47103934 47103934 + Missense_Mutation SNP G G A TCGA-UZ-A9PK-01A-11D-A382-10 TCGA-UZ-A9PK-10A-01D-A385-10 g.chrX:47103934G>A c.1957G>A c.(1957-1959)Gat>Aat p.D653N KIRC 23 47100845 47100845 + Missense_Mutation SNP T T A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chrX:47100845T>A c.1145T>A c.(1144-1146)tTc>tAc p.F382Y KIRP 23 47103934 47103934 + Missense_Mutation SNP G G A TCGA-UZ-A9PK-01A-11D-A382-10 TCGA-UZ-A9PK-10A-01D-A385-10 g.chrX:47103934G>A c.1957G>A c.(1957-1959)Gat>Aat p.D653N LAML 23 47104803 47104803 + Missense_Mutation SNP T T A TCGA-AB-2877-03A-01W-0732-08 TCGA-AB-2877-11A-01W-0732-08 g.chrX:47104803T>A c.2321T>A c.(2320-2322)aTg>aAg p.M774K LGG 23 47092455 47092455 + Missense_Mutation SNP G G A TCGA-HT-7475-01A-11D-2024-08 TCGA-HT-7475-10A-01D-2024-08 g.chrX:47092455G>A c.142G>A c.(142-144)Gca>Aca p.A48T LGG 23 47098481 47098481 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:47098481G>T c.318G>T c.(316-318)gaG>gaT p.E106D LGG 23 47099838 47099838 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 g.chrX:47099838G>A c.799G>A c.(799-801)Gag>Aag p.E267K LGG 23 47101045 47101045 + Missense_Mutation SNP G G A TCGA-DU-7008-01A-11D-2024-08 TCGA-DU-7008-10A-01D-2024-08 g.chrX:47101045G>A c.1255G>A c.(1255-1257)Gtg>Atg p.V419M LGG 23 47101902 47101902 + Missense_Mutation SNP C C T TCGA-HT-8010-01A-11D-2395-08 TCGA-HT-8010-10A-01D-2396-08 g.chrX:47101902C>T c.1598C>T c.(1597-1599)aCg>aTg p.T533M LGG 23 47104794 47104794 + Missense_Mutation SNP G G A TCGA-FG-7638-01B-11D-2086-08 TCGA-FG-7638-10A-01D-2086-08 g.chrX:47104794G>A c.2312G>A c.(2311-2313)gGg>gAg p.G771E LGG 23 47107222 47107222 + Missense_Mutation SNP C C T TCGA-FG-A6J1-01A-11D-A31L-08 TCGA-FG-A6J1-10A-01D-A31J-08 g.chrX:47107222C>T c.2785C>T c.(2785-2787)Cgc>Tgc p.R929C LIHC 23 47098823 47098823 + Nonsense_Mutation SNP G G A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chrX:47098823G>A c.489G>A c.(487-489)tgG>tgA p.W163* LIHC 23 47104422 47104422 + Silent SNP G G A TCGA-ED-A97K-01A-21D-A382-10 TCGA-ED-A97K-10A-01D-A385-10 g.chrX:47104422G>A c.2223G>A c.(2221-2223)ccG>ccA p.P741P LUAD 23 47092493 47092493 + Silent SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:47092493G>T c.180G>T c.(178-180)gcG>gcT p.A60A LUAD 23 47092494 47092494 + Missense_Mutation SNP G G T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:47092494G>T c.181G>T c.(181-183)Gca>Tca p.A61S LUAD 23 47101481 47101481 + Splice_Site SNP G G T TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chrX:47101481G>T c.1309G>T c.(1309-1311)Gag>Tag p.E437* LUAD 23 47103906 47103906 + Silent SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chrX:47103906G>T c.1929G>T c.(1927-1929)gtG>gtT p.V643V LUAD 23 47104297 47104297 + Missense_Mutation SNP G G C TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chrX:47104297G>C c.2189G>C c.(2188-2190)cGc>cCc p.R730P LUAD 23 47104483 47104483 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chrX:47104483G>A c.2284G>A c.(2284-2286)Gag>Aag p.E762K LUAD 23 47104811 47104811 + Missense_Mutation SNP G G A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chrX:47104811G>A c.2329G>A c.(2329-2331)Gct>Act p.A777T LUAD 23 47104820 47104820 + Missense_Mutation SNP C C G TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chrX:47104820C>G c.2338C>G c.(2338-2340)Cgg>Ggg p.R780G LUAD 23 47106710 47106710 + Missense_Mutation SNP G G T TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chrX:47106710G>T c.2557G>T c.(2557-2559)Gac>Tac p.D853Y LUAD 23 47107228 47107228 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chrX:47107228G>A c.2791G>A c.(2791-2793)Gac>Aac p.D931N LUAD 23 47107248 47107248 + Silent SNP G G C TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chrX:47107248G>C c.2811G>C c.(2809-2811)ctG>ctC p.L937L LUAD 23 47107328 47107328 + Nonstop_Mutation SNP G G C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chrX:47107328G>C c.2891G>C c.(2890-2892)tGa>tCa p.*964S LUSC 23 47100995 47100995 + Missense_Mutation SNP A A T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chrX:47100995A>T c.1205A>T c.(1204-1206)cAg>cTg p.Q402L LUSC 23 47101575 47101575 + Missense_Mutation SNP G G T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chrX:47101575G>T c.1403G>T c.(1402-1404)tGc>tTc p.C468F LUSC 23 47101681 47101681 + Missense_Mutation SNP G G T TCGA-60-2723-01A-01D-1522-08 TCGA-60-2723-11A-01D-1522-08 g.chrX:47101681G>T c.1509G>T c.(1507-1509)atG>atT p.M503I LUSC 23 47101705 47101705 + Splice_Site SNP G G T TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chrX:47101705G>T c.1533G>T c.(1531-1533)caG>caT p.Q511H LUSC 23 47102051 47102051 + Silent SNP C C T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chrX:47102051C>T c.1644C>T c.(1642-1644)caC>caT p.H548H LUSC 23 47104082 47104082 + Splice_Site SNP A A G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chrX:47104082A>G c.1974A>G c.(1972-1974)gaA>gaG p.E658E LUSC 23 47104414 47104414 + Splice_Site SNP G G C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chrX:47104414G>C c.e16-1 OV 23 47098492 47098492 + Missense_Mutation SNP A A G TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 g.chrX:47098492A>G c.329A>G c.(328-330)tAt>tGt p.Y110C OV 23 47101535 47101535 + Missense_Mutation SNP G G A TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chrX:47101535G>A c.1363G>A c.(1363-1365)Gtg>Atg p.V455M PAAD 23 47103898 47103898 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:47103898C>T c.1921C>T c.(1921-1923)Cgc>Tgc p.R641C PAAD 23 47103933 47103933 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:47103933C>A c.1956C>A c.(1954-1956)gaC>gaA p.D652E PRAD 23 47099251 47099251 + Silent SNP G G A TCGA-KC-A7FA-01A-21D-A33T-08 TCGA-KC-A7FA-10A-01D-A33W-08 g.chrX:47099251G>A c.609G>A c.(607-609)cgG>cgA p.R203R READ 23 47102927 47102927 + Silent SNP C C T TCGA-DC-6158-01A-11D-1657-10 TCGA-DC-6158-10A-01D-1657-10 g.chrX:47102927C>T c.1845C>T c.(1843-1845)caC>caT p.H615H READ 23 47107215 47107215 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:47107215C>A c.2778C>A c.(2776-2778)ttC>ttA p.F926L SKCM 23 47098764 47098764 + Missense_Mutation SNP C C G TCGA-GN-A4U3-06A-11D-A32N-08 TCGA-GN-A4U3-10F-01D-A32N-08 g.chrX:47098764C>G c.430C>G c.(430-432)Cgc>Ggc p.R144G SKCM 23 47099222 47099222 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chrX:47099222G>A c.580G>A c.(580-582)Gtg>Atg p.V194M SKCM 23 47100963 47100963 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:47100963C>T c.1173C>T c.(1171-1173)tcC>tcT p.S391S SKCM 23 47101088 47101088 + Missense_Mutation SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chrX:47101088G>A c.1298G>A c.(1297-1299)cGa>cAa p.R433Q SKCM 23 47102868 47102868 + Nonsense_Mutation SNP G G T TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chrX:47102868G>T c.1786G>T c.(1786-1788)Gag>Tag p.E596* SKCM 23 47102899 47102899 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chrX:47102899C>T c.1817C>T c.(1816-1818)tCc>tTc p.S606F SKCM 23 47103918 47103918 + Silent SNP C C T TCGA-EE-A2GU-06A-11D-A196-08 TCGA-EE-A2GU-10A-01D-A198-08 g.chrX:47103918C>T c.1941C>T c.(1939-1941)aaC>aaT p.N647N SKCM 23 47104261 47104261 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:47104261C>T c.2153C>T c.(2152-2154)aCc>aTc p.T718I SKCM 23 47104264 47104264 + Missense_Mutation SNP T T C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chrX:47104264T>C c.2156T>C c.(2155-2157)cTg>cCg p.L719P SKCM 23 47106620 47106620 + Splice_Site SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chrX:47106620G>A c.2549G>A c.(2548-2550)cGg>cAg p.R850Q SKCM 23 47106768 47106768 + Missense_Mutation SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chrX:47106768A>T c.2615A>T c.(2614-2616)tAt>tTt p.Y872F

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 47100994 47100994 single base substitution C T downstream_gene_variant BLCA-CN X 47100994 47100994 single base substitution C T exon_variant BLCA-CN X 47100994 47100994 single base substitution C T stop_gained Q129* 385C>T BLCA-CN X 47100994 47100994 single base substitution C T stop_gained Q359* 1075C>T BLCA-CN X 47100994 47100994 single base substitution C T stop_gained Q402* 1204C>T BLCA-CN X 47100994 47100994 single base substitution C T upstream_gene_variant BLCA-CN X 47104146 47104146 single base substitution G C downstream_gene_variant BLCA-CN X 47104146 47104146 single base substitution G C exon_variant BLCA-CN X 47104146 47104146 single base substitution G C missense_variant E637Q 1909G>C BLCA-CN X 47104146 47104146 single base substitution G C missense_variant E680Q 2038G>C BLCA-CN X 47104146 47104146 single base substitution G C upstream_gene_variant BLCA-CN X 47104863 47104863 single base substitution T A downstream_gene_variant BLCA-CN X 47104863 47104863 single base substitution T A exon_variant BLCA-CN X 47104863 47104863 single base substitution T A missense_variant L751Q 2252T>A BLCA-CN X 47104863 47104863 single base substitution T A missense_variant L794Q 2381T>A BLCA-CN X 47104863 47104863 single base substitution T A upstream_gene_variant BLCA-US X 47092454 47092454 single base substitution C T exon_variant BLCA-US X 47092454 47092454 single base substitution C T synonymous_variant V47V 141C>T BLCA-US X 47092454 47092454 single base substitution C T synonymous_variant V4V 12C>T BLCA-US X 47092454 47092454 single base substitution C T upstream_gene_variant BRCA-EU X 47087328 47087329 deletion of <=200bp TT - upstream_gene_variant BRCA-EU X 47088024 47088024 single base substitution T C upstream_gene_variant BRCA-EU X 47090685 47090685 single base substitution C G upstream_gene_variant BRCA-EU X 47091296 47091296 single base substitution A G upstream_gene_variant BRCA-EU X 47091379 47091379 single base substitution G A upstream_gene_variant BRCA-EU X 47092258 47092258 single base substitution G A 5_prime_UTR_variant BRCA-EU X 47092258 47092258 single base substitution G A upstream_gene_variant BRCA-EU X 47093934 47093934 single base substitution C T intron_variant BRCA-EU X 47094525 47094525 single base substitution C G intron_variant BRCA-EU X 47100083 47100083 single base substitution G A downstream_gene_variant BRCA-EU X 47100083 47100083 single base substitution G A intron_variant BRCA-EU X 47100083 47100083 single base substitution G A upstream_gene_variant BRCA-EU X 47100563 47100563 single base substitution T C downstream_gene_variant BRCA-EU X 47100563 47100563 single base substitution T C exon_variant BRCA-EU X 47100563 47100563 single base substitution T C intron_variant BRCA-EU X 47100563 47100563 single base substitution T C upstream_gene_variant BRCA-EU X 47102300 47102300 single base substitution G A downstream_gene_variant BRCA-EU X 47102300 47102300 single base substitution G A intron_variant BRCA-EU X 47102300 47102300 single base substitution G A upstream_gene_variant BRCA-EU X 47102455 47102455 single base substitution G T downstream_gene_variant BRCA-EU X 47102455 47102455 single base substitution G T intron_variant BRCA-EU X 47102455 47102455 single base substitution G T upstream_gene_variant BRCA-EU X 47103419 47103419 single base substitution T G downstream_gene_variant BRCA-EU X 47103419 47103419 single base substitution T G intron_variant BRCA-EU X 47103419 47103419 single base substitution T G upstream_gene_variant BRCA-EU X 47107699 47107699 single base substitution G A 3_prime_UTR_variant BRCA-EU X 47107699 47107699 single base substitution G A downstream_gene_variant BRCA-EU X 47107699 47107699 single base substitution G A exon_variant BRCA-EU X 47108159 47108159 single base substitution G A downstream_gene_variant BRCA-EU X 47109097 47109097 single base substitution C T downstream_gene_variant BRCA-EU X 47110340 47110340 single base substitution C T downstream_gene_variant BRCA-EU X 47110881 47110881 single base substitution T A downstream_gene_variant BRCA-EU X 47112203 47112203 single base substitution T C downstream_gene_variant BRCA-EU X 47112562 47112562 single base substitution A G downstream_gene_variant BRCA-FR X 47090685 47090685 single base substitution C G upstream_gene_variant BRCA-FR X 47091660 47091660 single base substitution C G upstream_gene_variant BRCA-UK X 47091296 47091296 single base substitution A G upstream_gene_variant BRCA-US X 47088130 47088130 single base substitution G T upstream_gene_variant BRCA-US X 47092577 47092577 single base substitution C T exon_variant BRCA-US X 47092577 47092577 single base substitution C T synonymous_variant G45G 135C>T BRCA-US X 47092577 47092577 single base substitution C T synonymous_variant G88G 264C>T BRCA-US X 47092577 47092577 single base substitution C T upstream_gene_variant BRCA-US X 47098833 47098833 single base substitution G T 5_prime_UTR_variant BRCA-US X 47098833 47098833 single base substitution G T exon_variant BRCA-US X 47098833 47098833 single base substitution G T missense_variant V124F 370G>T BRCA-US X 47098833 47098833 single base substitution G T missense_variant V167F 499G>T BRCA-US X 47098833 47098833 single base substitution G T upstream_gene_variant BRCA-US X 47100714 47100714 single base substitution C G downstream_gene_variant BRCA-US X 47100714 47100714 single base substitution C G exon_variant BRCA-US X 47100714 47100714 single base substitution C G synonymous_variant L295L 885C>G BRCA-US X 47100714 47100714 single base substitution C G synonymous_variant L338L 1014C>G BRCA-US X 47100714 47100714 single base substitution C G synonymous_variant L65L 195C>G BRCA-US X 47100714 47100714 single base substitution C G upstream_gene_variant BRCA-US X 47101513 47101513 single base substitution A G downstream_gene_variant BRCA-US X 47101513 47101513 single base substitution A G exon_variant BRCA-US X 47101513 47101513 single base substitution A G synonymous_variant K404K 1212A>G BRCA-US X 47101513 47101513 single base substitution A G synonymous_variant K447K 1341A>G BRCA-US X 47101513 47101513 single base substitution A G upstream_gene_variant BRCA-US X 47101698 47101698 single base substitution C T downstream_gene_variant BRCA-US X 47101698 47101698 single base substitution C T exon_variant BRCA-US X 47101698 47101698 single base substitution C T missense_variant P466L 1397C>T BRCA-US X 47101698 47101698 single base substitution C T missense_variant P509L 1526C>T BRCA-US X 47101698 47101698 single base substitution C T upstream_gene_variant BRCA-US X 47104784 47104784 single base substitution G A downstream_gene_variant BRCA-US X 47104784 47104784 single base substitution G A exon_variant BRCA-US X 47104784 47104784 single base substitution G A missense_variant D725N 2173G>A BRCA-US X 47104784 47104784 single base substitution G A missense_variant D768N 2302G>A BRCA-US X 47104784 47104784 single base substitution G A upstream_gene_variant BRCA-US X 47104842 47104842 single base substitution T C downstream_gene_variant BRCA-US X 47104842 47104842 single base substitution T C exon_variant BRCA-US X 47104842 47104842 single base substitution T C missense_variant L744P 2231T>C BRCA-US X 47104842 47104842 single base substitution T C missense_variant L787P 2360T>C BRCA-US X 47104842 47104842 single base substitution T C upstream_gene_variant BTCA-JP X 47099831 47099831 single base substitution G A 5_prime_UTR_variant BTCA-JP X 47099831 47099831 single base substitution G A downstream_gene_variant BTCA-JP X 47099831 47099831 single base substitution G A exon_variant BTCA-JP X 47099831 47099831 single base substitution G A synonymous_variant A221A 663G>A BTCA-JP X 47099831 47099831 single base substitution G A synonymous_variant A264A 792G>A BTCA-JP X 47099831 47099831 single base substitution G A upstream_gene_variant BTCA-JP X 47100030 47100030 single base substitution C T downstream_gene_variant BTCA-JP X 47100030 47100030 single base substitution C T exon_variant BTCA-JP X 47100030 47100030 single base substitution C T synonymous_variant S12S 36C>T BTCA-JP X 47100030 47100030 single base substitution C T synonymous_variant S242S 726C>T BTCA-JP X 47100030 47100030 single base substitution C T synonymous_variant S285S 855C>T BTCA-JP X 47100030 47100030 single base substitution C T upstream_gene_variant BTCA-JP X 47101856 47101856 single base substitution A G downstream_gene_variant BTCA-JP X 47101856 47101856 single base substitution A G exon_variant BTCA-JP X 47101856 47101856 single base substitution A G missense_variant K475E 1423A>G BTCA-JP X 47101856 47101856 single base substitution A G missense_variant K518E 1552A>G BTCA-JP X 47101856 47101856 single base substitution A G upstream_gene_variant BTCA-JP X 47104470 47104470 single base substitution C T downstream_gene_variant BTCA-JP X 47104470 47104470 single base substitution C T exon_variant BTCA-JP X 47104470 47104470 single base substitution C T synonymous_variant D714D 2142C>T BTCA-JP X 47104470 47104470 single base substitution C T synonymous_variant D757D 2271C>T BTCA-JP X 47104470 47104470 single base substitution C T upstream_gene_variant BTCA-JP X 47104790 47104790 single base substitution G T downstream_gene_variant BTCA-JP X 47104790 47104790 single base substitution G T exon_variant BTCA-JP X 47104790 47104790 single base substitution G T missense_variant V727F 2179G>T BTCA-JP X 47104790 47104790 single base substitution G T missense_variant V770F 2308G>T BTCA-JP X 47104790 47104790 single base substitution G T upstream_gene_variant BTCA-JP X 47107138 47107138 single base substitution G C downstream_gene_variant BTCA-JP X 47107138 47107138 single base substitution G C intron_variant CESC-US X 47098791 47098791 single base substitution G A 5_prime_UTR_variant CESC-US X 47098791 47098791 single base substitution G A exon_variant CESC-US X 47098791 47098791 single base substitution G A missense_variant E110K 328G>A CESC-US X 47098791 47098791 single base substitution G A missense_variant E153K 457G>A CESC-US X 47098791 47098791 single base substitution G A upstream_gene_variant CESC-US X 47101546 47101546 single base substitution C T downstream_gene_variant CESC-US X 47101546 47101546 single base substitution C T exon_variant CESC-US X 47101546 47101546 single base substitution C T synonymous_variant F415F 1245C>T CESC-US X 47101546 47101546 single base substitution C T synonymous_variant F458F 1374C>T CESC-US X 47101546 47101546 single base substitution C T upstream_gene_variant CESC-US X 47104246 47104246 single base substitution G A downstream_gene_variant CESC-US X 47104246 47104246 single base substitution G A exon_variant CESC-US X 47104246 47104246 single base substitution G A missense_variant R670H 2009G>A CESC-US X 47104246 47104246 single base substitution G A missense_variant R713H 2138G>A CESC-US X 47104246 47104246 single base substitution G A upstream_gene_variant CESC-US X 47106535 47106535 single base substitution G A downstream_gene_variant CESC-US X 47106535 47106535 single base substitution G A exon_variant CESC-US X 47106535 47106535 single base substitution G A missense_variant E779K 2335G>A CESC-US X 47106535 47106535 single base substitution G A missense_variant E822K 2464G>A CESC-US X 47106541 47106541 single base substitution C G downstream_gene_variant CESC-US X 47106541 47106541 single base substitution C G exon_variant CESC-US X 47106541 47106541 single base substitution C G missense_variant L781V 2341C>G CESC-US X 47106541 47106541 single base substitution C G missense_variant L824V 2470C>G CESC-US X 47106743 47106743 single base substitution G A downstream_gene_variant CESC-US X 47106743 47106743 single base substitution G A exon_variant CESC-US X 47106743 47106743 single base substitution G A missense_variant E821K 2461G>A CESC-US X 47106743 47106743 single base substitution G A missense_variant E864K 2590G>A CESC-US X 47106748 47106748 single base substitution G A downstream_gene_variant CESC-US X 47106748 47106748 single base substitution G A exon_variant CESC-US X 47106748 47106748 single base substitution G A synonymous_variant S822S 2466G>A CESC-US X 47106748 47106748 single base substitution G A synonymous_variant S865S 2595G>A CLLE-ES X 47091616 47091616 single base substitution C T upstream_gene_variant COAD-US X 47100744 47100744 single base substitution C T downstream_gene_variant COAD-US X 47100744 47100744 single base substitution C T exon_variant COAD-US X 47100744 47100744 single base substitution C T synonymous_variant F305F 915C>T COAD-US X 47100744 47100744 single base substitution C T synonymous_variant F348F 1044C>T COAD-US X 47100744 47100744 single base substitution C T synonymous_variant F75F 225C>T COAD-US X 47100744 47100744 single base substitution C T upstream_gene_variant COAD-US X 47101911 47101911 single base substitution C T downstream_gene_variant COAD-US X 47101911 47101911 single base substitution C T exon_variant COAD-US X 47101911 47101911 single base substitution C T missense_variant S493L 1478C>T COAD-US X 47101911 47101911 single base substitution C T missense_variant S536L 1607C>T COAD-US X 47101911 47101911 single base substitution C T upstream_gene_variant COAD-US X 47103933 47103933 single base substitution C T downstream_gene_variant COAD-US X 47103933 47103933 single base substitution C T exon_variant COAD-US X 47103933 47103933 single base substitution C T synonymous_variant D609D 1827C>T COAD-US X 47103933 47103933 single base substitution C T synonymous_variant D652D 1956C>T COAD-US X 47103933 47103933 single base substitution C T upstream_gene_variant COAD-US X 47107230 47107230 single base substitution C T downstream_gene_variant COAD-US X 47107230 47107230 single base substitution C T exon_variant COAD-US X 47107230 47107230 single base substitution C T synonymous_variant D888D 2664C>T COAD-US X 47107230 47107230 single base substitution C T synonymous_variant D931D 2793C>T COCA-CN X 47099620 47099620 single base substitution G A intron_variant COCA-CN X 47099620 47099620 single base substitution G A upstream_gene_variant COCA-CN X 47100225 47100225 single base substitution T A downstream_gene_variant COCA-CN X 47100225 47100225 single base substitution T A exon_variant COCA-CN X 47100225 47100225 single base substitution T A missense_variant C266S 796T>A COCA-CN X 47100225 47100225 single base substitution T A missense_variant C309S 925T>A COCA-CN X 47100225 47100225 single base substitution T A missense_variant C36S 106T>A COCA-CN X 47100225 47100225 single base substitution T A upstream_gene_variant COCA-CN X 47100574 47100574 single base substitution C T downstream_gene_variant COCA-CN X 47100574 47100574 single base substitution C T exon_variant COCA-CN X 47100574 47100574 single base substitution C T intron_variant COCA-CN X 47100574 47100574 single base substitution C T upstream_gene_variant COCA-CN X 47100735 47100735 single base substitution G A downstream_gene_variant COCA-CN X 47100735 47100735 single base substitution G A exon_variant COCA-CN X 47100735 47100735 single base substitution G A synonymous_variant E302E 906G>A COCA-CN X 47100735 47100735 single base substitution G A synonymous_variant E345E 1035G>A COCA-CN X 47100735 47100735 single base substitution G A synonymous_variant E72E 216G>A COCA-CN X 47100735 47100735 single base substitution G A upstream_gene_variant COCA-CN X 47104088 47104088 single base substitution C T downstream_gene_variant COCA-CN X 47104088 47104088 single base substitution C T exon_variant COCA-CN X 47104088 47104088 single base substitution C T synonymous_variant D617D 1851C>T COCA-CN X 47104088 47104088 single base substitution C T synonymous_variant D660D 1980C>T COCA-CN X 47104088 47104088 single base substitution C T upstream_gene_variant COCA-CN X 47104293 47104293 single base substitution G A downstream_gene_variant COCA-CN X 47104293 47104293 single base substitution G A exon_variant COCA-CN X 47104293 47104293 single base substitution G A missense_variant D686N 2056G>A COCA-CN X 47104293 47104293 single base substitution G A missense_variant D729N 2185G>A COCA-CN X 47104293 47104293 single base substitution G A upstream_gene_variant COCA-CN X 47104459 47104459 single base substitution C T downstream_gene_variant COCA-CN X 47104459 47104459 single base substitution C T exon_variant COCA-CN X 47104459 47104459 single base substitution C T missense_variant R711C 2131C>T COCA-CN X 47104459 47104459 single base substitution C T missense_variant R754C 2260C>T COCA-CN X 47104459 47104459 single base substitution C T upstream_gene_variant COCA-CN X 47104661 47104661 single base substitution C T downstream_gene_variant COCA-CN X 47104661 47104661 single base substitution C T exon_variant COCA-CN X 47104661 47104661 single base substitution C T intron_variant COCA-CN X 47104661 47104661 single base substitution C T upstream_gene_variant COCA-CN X 47104937 47104937 single base substitution A T downstream_gene_variant COCA-CN X 47104937 47104937 single base substitution A T intron_variant COCA-CN X 47104937 47104937 single base substitution A T upstream_gene_variant COCA-CN X 47106442 47106442 single base substitution C T downstream_gene_variant COCA-CN X 47106442 47106442 single base substitution C T intron_variant COCA-CN X 47106442 47106442 single base substitution C T upstream_gene_variant GBM-US X 47098522 47098522 single base substitution G A 5_prime_UTR_variant GBM-US X 47098522 47098522 single base substitution G A exon_variant GBM-US X 47098522 47098522 single base substitution G A missense_variant G120E 359G>A GBM-US X 47098522 47098522 single base substitution G A missense_variant G77E 230G>A GBM-US X 47098522 47098522 single base substitution G A upstream_gene_variant GBM-US X 47102906 47102906 single base substitution C T downstream_gene_variant GBM-US X 47102906 47102906 single base substitution C T exon_variant GBM-US X 47102906 47102906 single base substitution C T synonymous_variant Y565Y 1695C>T GBM-US X 47102906 47102906 single base substitution C T synonymous_variant Y608Y 1824C>T GBM-US X 47102906 47102906 single base substitution C T upstream_gene_variant GBM-US X 47104414 47104414 single base substitution G C downstream_gene_variant GBM-US X 47104414 47104414 single base substitution G C exon_variant GBM-US X 47104414 47104414 single base substitution G C splice_acceptor_variant GBM-US X 47104414 47104414 single base substitution G C upstream_gene_variant KIRC-US X 47100845 47100845 single base substitution T A downstream_gene_variant KIRC-US X 47100845 47100845 single base substitution T A exon_variant KIRC-US X 47100845 47100845 single base substitution T A missense_variant F109Y 326T>A KIRC-US X 47100845 47100845 single base substitution T A missense_variant F339Y 1016T>A KIRC-US X 47100845 47100845 single base substitution T A missense_variant F382Y 1145T>A KIRC-US X 47100845 47100845 single base substitution T A upstream_gene_variant LAML-KR X 47099498 47099498 single base substitution T C intron_variant LAML-KR X 47099498 47099498 single base substitution T C upstream_gene_variant LGG-US X 47092455 47092455 single base substitution G A exon_variant LGG-US X 47092455 47092455 single base substitution G A missense_variant A48T 142G>A LGG-US X 47092455 47092455 single base substitution G A missense_variant A5T 13G>A LGG-US X 47092455 47092455 single base substitution G A upstream_gene_variant LGG-US X 47101045 47101045 single base substitution G A downstream_gene_variant LGG-US X 47101045 47101045 single base substitution G A exon_variant LGG-US X 47101045 47101045 single base substitution G A missense_variant V376M 1126G>A LGG-US X 47101045 47101045 single base substitution G A missense_variant V419M 1255G>A LGG-US X 47101045 47101045 single base substitution G A upstream_gene_variant LGG-US X 47101902 47101902 single base substitution C T downstream_gene_variant LGG-US X 47101902 47101902 single base substitution C T exon_variant LGG-US X 47101902 47101902 single base substitution C T missense_variant T490M 1469C>T LGG-US X 47101902 47101902 single base substitution C T missense_variant T533M 1598C>T LGG-US X 47101902 47101902 single base substitution C T upstream_gene_variant LICA-FR X 47100702 47100702 single base substitution C A downstream_gene_variant LICA-FR X 47100702 47100702 single base substitution C A exon_variant LICA-FR X 47100702 47100702 single base substitution C A synonymous_variant T291T 873C>A LICA-FR X 47100702 47100702 single base substitution C A synonymous_variant T334T 1002C>A LICA-FR X 47100702 47100702 single base substitution C A synonymous_variant T61T 183C>A LICA-FR X 47100702 47100702 single base substitution C A upstream_gene_variant LICA-FR X 47100981 47100981 single base substitution G A downstream_gene_variant LICA-FR X 47100981 47100981 single base substitution G A exon_variant LICA-FR X 47100981 47100981 single base substitution G A synonymous_variant Q124Q 372G>A LICA-FR X 47100981 47100981 single base substitution G A synonymous_variant Q354Q 1062G>A LICA-FR X 47100981 47100981 single base substitution G A synonymous_variant Q397Q 1191G>A LICA-FR X 47100981 47100981 single base substitution G A upstream_gene_variant LICA-FR X 47111977 47111977 single base substitution A G downstream_gene_variant LINC-JP X 47090862 47090862 deletion of <=200bp A - upstream_gene_variant LINC-JP X 47091508 47091508 single base substitution G A upstream_gene_variant LINC-JP X 47096807 47096807 single base substitution A G intron_variant LINC-JP X 47096807 47096807 single base substitution A G upstream_gene_variant LINC-JP X 47103075 47103075 single base substitution G T downstream_gene_variant LINC-JP X 47103075 47103075 single base substitution G T intron_variant LINC-JP X 47103075 47103075 single base substitution G T upstream_gene_variant LINC-JP X 47104398 47104398 single base substitution C A downstream_gene_variant LINC-JP X 47104398 47104398 single base substitution C A exon_variant LINC-JP X 47104398 47104398 single base substitution C A intron_variant LINC-JP X 47104398 47104398 single base substitution C A upstream_gene_variant LINC-JP X 47104516 47104516 single base substitution T G downstream_gene_variant LINC-JP X 47104516 47104516 single base substitution T G exon_variant LINC-JP X 47104516 47104516 single base substitution T G intron_variant LINC-JP X 47104516 47104516 single base substitution T G upstream_gene_variant LINC-JP X 47106874 47106874 single base substitution T A downstream_gene_variant LINC-JP X 47106874 47106874 single base substitution T A exon_variant LINC-JP X 47106874 47106874 single base substitution T A intron_variant LIRI-JP X 47091061 47091061 single base substitution T G upstream_gene_variant LIRI-JP X 47096124 47096124 insertion of <=200bp - C intron_variant LIRI-JP X 47096124 47096124 insertion of <=200bp - C upstream_gene_variant LIRI-JP X 47097039 47097039 single base substitution T G intron_variant LIRI-JP X 47097039 47097039 single base substitution T G upstream_gene_variant LIRI-JP X 47103591 47103591 single base substitution G A downstream_gene_variant LIRI-JP X 47103591 47103591 single base substitution G A intron_variant LIRI-JP X 47103591 47103591 single base substitution G A upstream_gene_variant LIRI-JP X 47111158 47111158 single base substitution A T downstream_gene_variant LUSC-KR X 47093293 47093293 single base substitution G T 5_prime_UTR_variant LUSC-KR X 47093293 47093293 single base substitution G T intron_variant LUSC-KR X 47099886 47099886 single base substitution G A downstream_gene_variant LUSC-KR X 47099886 47099886 single base substitution G A intron_variant LUSC-KR X 47099886 47099886 single base substitution G A upstream_gene_variant LUSC-KR X 47101687 47101687 single base substitution G A downstream_gene_variant LUSC-KR X 47101687 47101687 single base substitution G A exon_variant LUSC-KR X 47101687 47101687 single base substitution G A synonymous_variant P462P 1386G>A LUSC-KR X 47101687 47101687 single base substitution G A synonymous_variant P505P 1515G>A LUSC-KR X 47101687 47101687 single base substitution G A upstream_gene_variant LUSC-US X 47100995 47100995 single base substitution A T downstream_gene_variant LUSC-US X 47100995 47100995 single base substitution A T exon_variant LUSC-US X 47100995 47100995 single base substitution A T missense_variant Q129L 386A>T LUSC-US X 47100995 47100995 single base substitution A T missense_variant Q359L 1076A>T LUSC-US X 47100995 47100995 single base substitution A T missense_variant Q402L 1205A>T LUSC-US X 47100995 47100995 single base substitution A T upstream_gene_variant LUSC-US X 47101575 47101575 single base substitution G T downstream_gene_variant LUSC-US X 47101575 47101575 single base substitution G T exon_variant LUSC-US X 47101575 47101575 single base substitution G T missense_variant C425F 1274G>T LUSC-US X 47101575 47101575 single base substitution G T missense_variant C468F 1403G>T LUSC-US X 47101575 47101575 single base substitution G T upstream_gene_variant LUSC-US X 47101681 47101681 single base substitution G T downstream_gene_variant LUSC-US X 47101681 47101681 single base substitution G T exon_variant LUSC-US X 47101681 47101681 single base substitution G T missense_variant M460I 1380G>T LUSC-US X 47101681 47101681 single base substitution G T missense_variant M503I 1509G>T LUSC-US X 47101681 47101681 single base substitution G T upstream_gene_variant LUSC-US X 47101705 47101705 single base substitution G T downstream_gene_variant LUSC-US X 47101705 47101705 single base substitution G T exon_variant LUSC-US X 47101705 47101705 single base substitution G T missense_variant Q468H 1404G>T LUSC-US X 47101705 47101705 single base substitution G T missense_variant Q511H 1533G>T LUSC-US X 47101705 47101705 single base substitution G T splice_region_variant LUSC-US X 47101705 47101705 single base substitution G T upstream_gene_variant LUSC-US X 47102051 47102051 single base substitution C T downstream_gene_variant LUSC-US X 47102051 47102051 single base substitution C T exon_variant LUSC-US X 47102051 47102051 single base substitution C T synonymous_variant H505H 1515C>T LUSC-US X 47102051 47102051 single base substitution C T synonymous_variant H548H 1644C>T LUSC-US X 47102051 47102051 single base substitution C T upstream_gene_variant LUSC-US X 47104082 47104082 single base substitution A G downstream_gene_variant LUSC-US X 47104082 47104082 single base substitution A G splice_region_variant LUSC-US X 47104082 47104082 single base substitution A G upstream_gene_variant LUSC-US X 47104414 47104414 single base substitution G C downstream_gene_variant LUSC-US X 47104414 47104414 single base substitution G C exon_variant LUSC-US X 47104414 47104414 single base substitution G C splice_acceptor_variant LUSC-US X 47104414 47104414 single base substitution G C upstream_gene_variant MALY-DE X 47088310 47088310 single base substitution C T upstream_gene_variant MALY-DE X 47093401 47093401 single base substitution T A intron_variant MALY-DE X 47098009 47098009 single base substitution G A intron_variant MALY-DE X 47098009 47098009 single base substitution G A upstream_gene_variant MALY-DE X 47100500 47100500 single base substitution T A downstream_gene_variant MALY-DE X 47100500 47100500 single base substitution T A exon_variant MALY-DE X 47100500 47100500 single base substitution T A intron_variant MALY-DE X 47100500 47100500 single base substitution T A upstream_gene_variant MALY-DE X 47100501 47100501 single base substitution T C downstream_gene_variant MALY-DE X 47100501 47100501 single base substitution T C exon_variant MALY-DE X 47100501 47100501 single base substitution T C intron_variant MALY-DE X 47100501 47100501 single base substitution T C upstream_gene_variant MALY-DE X 47100515 47100515 single base substitution T C downstream_gene_variant MALY-DE X 47100515 47100515 single base substitution T C exon_variant MALY-DE X 47100515 47100515 single base substitution T C intron_variant MALY-DE X 47100515 47100515 single base substitution T C upstream_gene_variant MALY-DE X 47103912 47103912 single base substitution A C downstream_gene_variant MALY-DE X 47103912 47103912 single base substitution A C exon_variant MALY-DE X 47103912 47103912 single base substitution A C missense_variant K602N 1806A>C MALY-DE X 47103912 47103912 single base substitution A C missense_variant K645N 1935A>C MALY-DE X 47103912 47103912 single base substitution A C upstream_gene_variant MELA-AU X 47087261 47087261 single base substitution C T upstream_gene_variant MELA-AU X 47087655 47087655 single base substitution C A upstream_gene_variant MELA-AU X 47087937 47087937 single base substitution C T upstream_gene_variant MELA-AU X 47088101 47088101 single base substitution A G upstream_gene_variant MELA-AU X 47089283 47089283 single base substitution C T upstream_gene_variant MELA-AU X 47090345 47090345 single base substitution G A upstream_gene_variant MELA-AU X 47090434 47090434 single base substitution C T upstream_gene_variant MELA-AU X 47091125 47091125 single base substitution C T upstream_gene_variant MELA-AU X 47093548 47093548 single base substitution T G intron_variant MELA-AU X 47097034 47097034 single base substitution G A intron_variant MELA-AU X 47097034 47097034 single base substitution G A upstream_gene_variant MELA-AU X 47097374 47097374 single base substitution C T intron_variant MELA-AU X 47097374 47097374 single base substitution C T upstream_gene_variant MELA-AU X 47098617 47098617 single base substitution G T intron_variant MELA-AU X 47098617 47098617 single base substitution G T upstream_gene_variant MELA-AU X 47099901 47099901 single base substitution C T downstream_gene_variant MELA-AU X 47099901 47099901 single base substitution C T intron_variant MELA-AU X 47099901 47099901 single base substitution C T upstream_gene_variant MELA-AU X 47100508 47100508 single base substitution C T downstream_gene_variant MELA-AU X 47100508 47100508 single base substitution C T exon_variant MELA-AU X 47100508 47100508 single base substitution C T intron_variant MELA-AU X 47100508 47100508 single base substitution C T upstream_gene_variant MELA-AU X 47100874 47100874 single base substitution C T downstream_gene_variant MELA-AU X 47100874 47100874 single base substitution C T exon_variant MELA-AU X 47100874 47100874 single base substitution C T intron_variant MELA-AU X 47100874 47100874 single base substitution C T upstream_gene_variant MELA-AU X 47101326 47101326 single base substitution T C downstream_gene_variant MELA-AU X 47101326 47101326 single base substitution T C intron_variant MELA-AU X 47101326 47101326 single base substitution T C upstream_gene_variant MELA-AU X 47102323 47102323 single base substitution C T downstream_gene_variant MELA-AU X 47102323 47102323 single base substitution C T intron_variant MELA-AU X 47102323 47102323 single base substitution C T upstream_gene_variant MELA-AU X 47102384 47102384 single base substitution C T downstream_gene_variant MELA-AU X 47102384 47102384 single base substitution C T intron_variant MELA-AU X 47102384 47102384 single base substitution C T upstream_gene_variant MELA-AU X 47102753 47102753 single base substitution T G downstream_gene_variant MELA-AU X 47102753 47102753 single base substitution T G intron_variant MELA-AU X 47102753 47102753 single base substitution T G upstream_gene_variant MELA-AU X 47102812 47102812 single base substitution G A downstream_gene_variant MELA-AU X 47102812 47102812 single base substitution G A exon_variant MELA-AU X 47102812 47102812 single base substitution G A missense_variant R534H 1601G>A MELA-AU X 47102812 47102812 single base substitution G A missense_variant R577H 1730G>A MELA-AU X 47102812 47102812 single base substitution G A upstream_gene_variant MELA-AU X 47102838 47102838 single base substitution G A downstream_gene_variant MELA-AU X 47102838 47102838 single base substitution G A exon_variant MELA-AU X 47102838 47102838 single base substitution G A missense_variant E543K 1627G>A MELA-AU X 47102838 47102838 single base substitution G A missense_variant E586K 1756G>A MELA-AU X 47102838 47102838 single base substitution G A upstream_gene_variant MELA-AU X 47102930 47102930 single base substitution C T downstream_gene_variant MELA-AU X 47102930 47102930 single base substitution C T exon_variant MELA-AU X 47102930 47102930 single base substitution C T synonymous_variant P573P 1719C>T MELA-AU X 47102930 47102930 single base substitution C T synonymous_variant P616P 1848C>T MELA-AU X 47102930 47102930 single base substitution C T upstream_gene_variant MELA-AU X 47104330 47104330 single base substitution C T downstream_gene_variant MELA-AU X 47104330 47104330 single base substitution C T exon_variant MELA-AU X 47104330 47104330 single base substitution C T splice_region_variant MELA-AU X 47104330 47104330 single base substitution C T upstream_gene_variant MELA-AU X 47104331 47104331 single base substitution C T downstream_gene_variant MELA-AU X 47104331 47104331 single base substitution C T exon_variant MELA-AU X 47104331 47104331 single base substitution C T splice_region_variant MELA-AU X 47104331 47104331 single base substitution C T upstream_gene_variant MELA-AU X 47105407 47105407 single base substitution C T downstream_gene_variant MELA-AU X 47105407 47105407 single base substitution C T intron_variant MELA-AU X 47105407 47105407 single base substitution C T upstream_gene_variant MELA-AU X 47105454 47105454 single base substitution C G downstream_gene_variant MELA-AU X 47105454 47105454 single base substitution C G intron_variant MELA-AU X 47105454 47105454 single base substitution C G upstream_gene_variant MELA-AU X 47107596 47107596 single base substitution C T 3_prime_UTR_variant MELA-AU X 47107596 47107596 single base substitution C T downstream_gene_variant MELA-AU X 47107596 47107596 single base substitution C T exon_variant MELA-AU X 47109142 47109142 single base substitution C T downstream_gene_variant MELA-AU X 47110621 47110621 single base substitution A T downstream_gene_variant MELA-AU X 47111017 47111017 single base substitution T C downstream_gene_variant MELA-AU X 47111122 47111122 single base substitution C T downstream_gene_variant MELA-AU X 47111168 47111168 single base substitution T A downstream_gene_variant MELA-AU X 47112308 47112308 single base substitution G A downstream_gene_variant ORCA-IN X 47099258 47099258 single base substitution G C 5_prime_UTR_variant ORCA-IN X 47099258 47099258 single base substitution G C exon_variant ORCA-IN X 47099258 47099258 single base substitution G C missense_variant D163H 487G>C ORCA-IN X 47099258 47099258 single base substitution G C missense_variant D206H 616G>C ORCA-IN X 47099258 47099258 single base substitution G C upstream_gene_variant ORCA-IN X 47102831 47102831 single base substitution C A downstream_gene_variant ORCA-IN X 47102831 47102831 single base substitution C A exon_variant ORCA-IN X 47102831 47102831 single base substitution C A synonymous_variant G540G 1620C>A ORCA-IN X 47102831 47102831 single base substitution C A synonymous_variant G583G 1749C>A ORCA-IN X 47102831 47102831 single base substitution C A upstream_gene_variant OV-AU X 47090209 47090209 single base substitution G A upstream_gene_variant OV-AU X 47101643 47101643 single base substitution A G downstream_gene_variant OV-AU X 47101643 47101643 single base substitution A G exon_variant OV-AU X 47101643 47101643 single base substitution A G missense_variant S448G 1342A>G OV-AU X 47101643 47101643 single base substitution A G missense_variant S491G 1471A>G OV-AU X 47101643 47101643 single base substitution A G upstream_gene_variant OV-US X 47101535 47101535 single base substitution G A downstream_gene_variant OV-US X 47101535 47101535 single base substitution G A exon_variant OV-US X 47101535 47101535 single base substitution G A missense_variant V412M 1234G>A OV-US X 47101535 47101535 single base substitution G A missense_variant V455M 1363G>A OV-US X 47101535 47101535 single base substitution G A upstream_gene_variant PACA-AU X 47092278 47092278 single base substitution C A 5_prime_UTR_variant PACA-AU X 47092278 47092278 single base substitution C A upstream_gene_variant PACA-AU X 47093395 47093395 deletion of <=200bp T - intron_variant PACA-AU X 47094712 47094712 single base substitution G A intron_variant PACA-AU X 47097552 47097552 single base substitution A T intron_variant PACA-AU X 47097552 47097552 single base substitution A T upstream_gene_variant PACA-AU X 47101492 47101492 single base substitution G A downstream_gene_variant PACA-AU X 47101492 47101492 single base substitution G A exon_variant PACA-AU X 47101492 47101492 single base substitution G A synonymous_variant Q397Q 1191G>A PACA-AU X 47101492 47101492 single base substitution G A synonymous_variant Q440Q 1320G>A PACA-AU X 47101492 47101492 single base substitution G A upstream_gene_variant PACA-AU X 47102390 47102390 single base substitution C T downstream_gene_variant PACA-AU X 47102390 47102390 single base substitution C T intron_variant PACA-AU X 47102390 47102390 single base substitution C T upstream_gene_variant PACA-AU X 47110912 47110912 single base substitution G A downstream_gene_variant PACA-CA X 47094330 47094330 single base substitution G T intron_variant PACA-CA X 47099620 47099620 single base substitution G A intron_variant PACA-CA X 47099620 47099620 single base substitution G A upstream_gene_variant PACA-CA X 47099826 47099826 single base substitution G A 5_prime_UTR_variant PACA-CA X 47099826 47099826 single base substitution G A downstream_gene_variant PACA-CA X 47099826 47099826 single base substitution G A exon_variant PACA-CA X 47099826 47099826 single base substitution G A missense_variant D220N 658G>A PACA-CA X 47099826 47099826 single base substitution G A missense_variant D263N 787G>A PACA-CA X 47099826 47099826 single base substitution G A upstream_gene_variant PACA-CA X 47101580 47101580 single base substitution G A downstream_gene_variant PACA-CA X 47101580 47101580 single base substitution G A exon_variant PACA-CA X 47101580 47101580 single base substitution G A missense_variant D427N 1279G>A PACA-CA X 47101580 47101580 single base substitution G A missense_variant D470N 1408G>A PACA-CA X 47101580 47101580 single base substitution G A upstream_gene_variant PACA-CA X 47104245 47104245 single base substitution C T downstream_gene_variant PACA-CA X 47104245 47104245 single base substitution C T exon_variant PACA-CA X 47104245 47104245 single base substitution C T missense_variant R670C 2008C>T PACA-CA X 47104245 47104245 single base substitution C T missense_variant R713C 2137C>T PACA-CA X 47104245 47104245 single base substitution C T upstream_gene_variant PACA-CA X 47105144 47105144 single base substitution C T downstream_gene_variant PACA-CA X 47105144 47105144 single base substitution C T intron_variant PACA-CA X 47105144 47105144 single base substitution C T upstream_gene_variant PACA-CA X 47111399 47111399 single base substitution T A downstream_gene_variant PRAD-CA X 47096313 47096313 single base substitution A G intron_variant PRAD-CA X 47096313 47096313 single base substitution A G upstream_gene_variant PRAD-CA X 47109058 47109058 single base substitution G C downstream_gene_variant PRAD-UK X 47092558 47092558 single base substitution G C exon_variant PRAD-UK X 47092558 47092558 single base substitution G C missense_variant W39S 116G>C PRAD-UK X 47092558 47092558 single base substitution G C missense_variant W82S 245G>C PRAD-UK X 47092558 47092558 single base substitution G C upstream_gene_variant PRAD-UK X 47098512 47098512 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK X 47098512 47098512 single base substitution G A exon_variant PRAD-UK X 47098512 47098512 single base substitution G A missense_variant V117M 349G>A PRAD-UK X 47098512 47098512 single base substitution G A missense_variant V74M 220G>A PRAD-UK X 47098512 47098512 single base substitution G A upstream_gene_variant READ-US X 47088138 47088138 single base substitution G A upstream_gene_variant READ-US X 47102927 47102927 single base substitution C T downstream_gene_variant READ-US X 47102927 47102927 single base substitution C T exon_variant READ-US X 47102927 47102927 single base substitution C T synonymous_variant H572H 1716C>T READ-US X 47102927 47102927 single base substitution C T synonymous_variant H615H 1845C>T READ-US X 47102927 47102927 single base substitution C T upstream_gene_variant RECA-EU X 47107565 47107565 single base substitution C T 3_prime_UTR_variant RECA-EU X 47107565 47107565 single base substitution C T downstream_gene_variant RECA-EU X 47107565 47107565 single base substitution C T exon_variant SKCA-BR X 47088744 47088744 single base substitution A C upstream_gene_variant SKCA-BR X 47092299 47092299 single base substitution G A 5_prime_UTR_variant SKCA-BR X 47092299 47092299 single base substitution G A upstream_gene_variant SKCA-BR X 47097886 47097886 single base substitution C T intron_variant SKCA-BR X 47097886 47097886 single base substitution C T upstream_gene_variant SKCA-BR X 47112574 47112574 single base substitution C T downstream_gene_variant SKCM-US X 47099222 47099222 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US X 47099222 47099222 single base substitution G A exon_variant SKCM-US X 47099222 47099222 single base substitution G A missense_variant V151M 451G>A SKCM-US X 47099222 47099222 single base substitution G A missense_variant V194M 580G>A SKCM-US X 47099222 47099222 single base substitution G A upstream_gene_variant SKCM-US X 47100963 47100963 single base substitution C T downstream_gene_variant SKCM-US X 47100963 47100963 single base substitution C T exon_variant SKCM-US X 47100963 47100963 single base substitution C T synonymous_variant S118S 354C>T SKCM-US X 47100963 47100963 single base substitution C T synonymous_variant S348S 1044C>T SKCM-US X 47100963 47100963 single base substitution C T synonymous_variant S391S 1173C>T SKCM-US X 47100963 47100963 single base substitution C T upstream_gene_variant SKCM-US X 47101088 47101088 single base substitution G A downstream_gene_variant SKCM-US X 47101088 47101088 single base substitution G A exon_variant SKCM-US X 47101088 47101088 single base substitution G A missense_variant R390Q 1169G>A SKCM-US X 47101088 47101088 single base substitution G A missense_variant R433Q 1298G>A SKCM-US X 47101088 47101088 single base substitution G A upstream_gene_variant SKCM-US X 47102868 47102868 single base substitution G T downstream_gene_variant SKCM-US X 47102868 47102868 single base substitution G T exon_variant SKCM-US X 47102868 47102868 single base substitution G T stop_gained E553* 1657G>T SKCM-US X 47102868 47102868 single base substitution G T stop_gained E596* 1786G>T SKCM-US X 47102868 47102868 single base substitution G T upstream_gene_variant SKCM-US X 47102899 47102899 single base substitution C T downstream_gene_variant SKCM-US X 47102899 47102899 single base substitution C T exon_variant SKCM-US X 47102899 47102899 single base substitution C T missense_variant S563F 1688C>T SKCM-US X 47102899 47102899 single base substitution C T missense_variant S606F 1817C>T SKCM-US X 47102899 47102899 single base substitution C T upstream_gene_variant SKCM-US X 47103918 47103918 single base substitution C T downstream_gene_variant SKCM-US X 47103918 47103918 single base substitution C T exon_variant SKCM-US X 47103918 47103918 single base substitution C T synonymous_variant N604N 1812C>T SKCM-US X 47103918 47103918 single base substitution C T synonymous_variant N647N 1941C>T SKCM-US X 47103918 47103918 single base substitution C T upstream_gene_variant SKCM-US X 47104261 47104261 single base substitution C T downstream_gene_variant SKCM-US X 47104261 47104261 single base substitution C T exon_variant SKCM-US X 47104261 47104261 single base substitution C T missense_variant T675I 2024C>T SKCM-US X 47104261 47104261 single base substitution C T missense_variant T718I 2153C>T SKCM-US X 47104261 47104261 single base substitution C T upstream_gene_variant SKCM-US X 47106620 47106620 single base substitution G A downstream_gene_variant SKCM-US X 47106620 47106620 single base substitution G A exon_variant SKCM-US X 47106620 47106620 single base substitution G A missense_variant R807Q 2420G>A SKCM-US X 47106620 47106620 single base substitution G A missense_variant R850Q 2549G>A SKCM-US X 47106620 47106620 single base substitution G A splice_region_variant SKCM-US X 47106753 47106753 single base substitution C T downstream_gene_variant SKCM-US X 47106753 47106753 single base substitution C T exon_variant SKCM-US X 47106753 47106753 single base substitution C T missense_variant P824L 2471C>T SKCM-US X 47106753 47106753 single base substitution C T missense_variant P867L 2600C>T SKCM-US X 47106768 47106768 single base substitution A T downstream_gene_variant SKCM-US X 47106768 47106768 single base substitution A T exon_variant SKCM-US X 47106768 47106768 single base substitution A T missense_variant Y829F 2486A>T SKCM-US X 47106768 47106768 single base substitution A T missense_variant Y872F 2615A>T STAD-US X 47087990 47087990 single base substitution A T upstream_gene_variant STAD-US X 47088011 47088011 single base substitution C T upstream_gene_variant STAD-US X 47088020 47088020 single base substitution G T upstream_gene_variant STAD-US X 47092439 47092439 single base substitution G A 5_prime_UTR_variant STAD-US X 47092439 47092439 single base substitution G A exon_variant STAD-US X 47092439 47092439 single base substitution G A synonymous_variant T42T 126G>A STAD-US X 47092439 47092439 single base substitution G A upstream_gene_variant STAD-US X 47098875 47098875 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US X 47098875 47098875 single base substitution C T exon_variant STAD-US X 47098875 47098875 single base substitution C T missense_variant R138C 412C>T STAD-US X 47098875 47098875 single base substitution C T missense_variant R181C 541C>T STAD-US X 47098875 47098875 single base substitution C T upstream_gene_variant STAD-US X 47100030 47100030 single base substitution C T downstream_gene_variant STAD-US X 47100030 47100030 single base substitution C T exon_variant STAD-US X 47100030 47100030 single base substitution C T synonymous_variant S12S 36C>T STAD-US X 47100030 47100030 single base substitution C T synonymous_variant S242S 726C>T STAD-US X 47100030 47100030 single base substitution C T synonymous_variant S285S 855C>T STAD-US X 47100030 47100030 single base substitution C T upstream_gene_variant STAD-US X 47100775 47100775 single base substitution G A downstream_gene_variant STAD-US X 47100775 47100775 single base substitution G A exon_variant STAD-US X 47100775 47100775 single base substitution G A missense_variant A316T 946G>A STAD-US X 47100775 47100775 single base substitution G A missense_variant A359T 1075G>A STAD-US X 47100775 47100775 single base substitution G A missense_variant A86T 256G>A STAD-US X 47100775 47100775 single base substitution G A upstream_gene_variant STAD-US X 47101540 47101540 single base substitution C T downstream_gene_variant STAD-US X 47101540 47101540 single base substitution C T exon_variant STAD-US X 47101540 47101540 single base substitution C T synonymous_variant D413D 1239C>T STAD-US X 47101540 47101540 single base substitution C T synonymous_variant D456D 1368C>T STAD-US X 47101540 47101540 single base substitution C T upstream_gene_variant STAD-US X 47101688 47101688 single base substitution C T downstream_gene_variant STAD-US X 47101688 47101688 single base substitution C T exon_variant STAD-US X 47101688 47101688 single base substitution C T missense_variant R463C 1387C>T STAD-US X 47101688 47101688 single base substitution C T missense_variant R506C 1516C>T STAD-US X 47101688 47101688 single base substitution C T upstream_gene_variant STAD-US X 47104245 47104245 single base substitution C T downstream_gene_variant STAD-US X 47104245 47104245 single base substitution C T exon_variant STAD-US X 47104245 47104245 single base substitution C T missense_variant R670C 2008C>T STAD-US X 47104245 47104245 single base substitution C T missense_variant R713C 2137C>T STAD-US X 47104245 47104245 single base substitution C T upstream_gene_variant STAD-US X 47104301 47104301 insertion of <=200bp - A downstream_gene_variant STAD-US X 47104301 47104301 insertion of <=200bp - A exon_variant STAD-US X 47104301 47104301 insertion of <=200bp - A frameshift_variant T688T? STAD-US X 47104301 47104301 insertion of <=200bp - A frameshift_variant T731T? STAD-US X 47104301 47104301 insertion of <=200bp - A upstream_gene_variant STAD-US X 47104478 47104478 single base substitution A T downstream_gene_variant STAD-US X 47104478 47104478 single base substitution A T exon_variant STAD-US X 47104478 47104478 single base substitution A T missense_variant E717V 2150A>T STAD-US X 47104478 47104478 single base substitution A T missense_variant E760V 2279A>T STAD-US X 47104478 47104478 single base substitution A T upstream_gene_variant STAD-US X 47107040 47107040 single base substitution G A downstream_gene_variant STAD-US X 47107040 47107040 single base substitution G A exon_variant STAD-US X 47107040 47107040 single base substitution G A missense_variant G856D 2567G>A STAD-US X 47107040 47107040 single base substitution G A missense_variant G899D 2696G>A THCA-SA X 47088714 47088714 single base substitution A G upstream_gene_variant UCEC-US X 47092372 47092372 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US X 47092372 47092372 single base substitution C T missense_variant P20L 59C>T UCEC-US X 47092372 47092372 single base substitution C T upstream_gene_variant UCEC-US X 47092434 47092434 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US X 47092434 47092434 single base substitution C T exon_variant UCEC-US X 47092434 47092434 single base substitution C T missense_variant R41W 121C>T UCEC-US X 47092434 47092434 single base substitution C T upstream_gene_variant UCEC-US X 47092478 47092478 single base substitution G A exon_variant UCEC-US X 47092478 47092478 single base substitution G A synonymous_variant A12A 36G>A UCEC-US X 47092478 47092478 single base substitution G A synonymous_variant A55A 165G>A UCEC-US X 47092478 47092478 single base substitution G A upstream_gene_variant UCEC-US X 47098766 47098766 single base substitution C T 5_prime_UTR_variant UCEC-US X 47098766 47098766 single base substitution C T exon_variant UCEC-US X 47098766 47098766 single base substitution C T synonymous_variant R101R 303C>T UCEC-US X 47098766 47098766 single base substitution C T synonymous_variant R144R 432C>T UCEC-US X 47098766 47098766 single base substitution C T upstream_gene_variant UCEC-US X 47098790 47098790 single base substitution C T 5_prime_UTR_variant UCEC-US X 47098790 47098790 single base substitution C T exon_variant UCEC-US X 47098790 47098790 single base substitution C T synonymous_variant G109G 327C>T UCEC-US X 47098790 47098790 single base substitution C T synonymous_variant G152G 456C>T UCEC-US X 47098790 47098790 single base substitution C T upstream_gene_variant UCEC-US X 47098846 47098846 single base substitution G A 5_prime_UTR_variant UCEC-US X 47098846 47098846 single base substitution G A exon_variant UCEC-US X 47098846 47098846 single base substitution G A missense_variant G128D 383G>A UCEC-US X 47098846 47098846 single base substitution G A missense_variant G171D 512G>A UCEC-US X 47098846 47098846 single base substitution G A upstream_gene_variant UCEC-US X 47098853 47098853 single base substitution G A 5_prime_UTR_variant UCEC-US X 47098853 47098853 single base substitution G A exon_variant UCEC-US X 47098853 47098853 single base substitution G A synonymous_variant E130E 390G>A UCEC-US X 47098853 47098853 single base substitution G A synonymous_variant E173E 519G>A UCEC-US X 47098853 47098853 single base substitution G A upstream_gene_variant UCEC-US X 47098872 47098872 single base substitution G A 5_prime_UTR_variant UCEC-US X 47098872 47098872 single base substitution G A exon_variant UCEC-US X 47098872 47098872 single base substitution G A missense_variant E137K 409G>A UCEC-US X 47098872 47098872 single base substitution G A missense_variant E180K 538G>A UCEC-US X 47098872 47098872 single base substitution G A upstream_gene_variant UCEC-US X 47099747 47099747 single base substitution C T 5_prime_UTR_variant UCEC-US X 47099747 47099747 single base substitution C T exon_variant UCEC-US X 47099747 47099747 single base substitution C T synonymous_variant P193P 579C>T UCEC-US X 47099747 47099747 single base substitution C T synonymous_variant P236P 708C>T UCEC-US X 47099747 47099747 single base substitution C T upstream_gene_variant UCEC-US X 47099826 47099826 single base substitution G A 5_prime_UTR_variant UCEC-US X 47099826 47099826 single base substitution G A downstream_gene_variant UCEC-US X 47099826 47099826 single base substitution G A exon_variant UCEC-US X 47099826 47099826 single base substitution G A missense_variant D220N 658G>A UCEC-US X 47099826 47099826 single base substitution G A missense_variant D263N 787G>A UCEC-US X 47099826 47099826 single base substitution G A upstream_gene_variant UCEC-US X 47100187 47100187 single base substitution C T downstream_gene_variant UCEC-US X 47100187 47100187 single base substitution C T exon_variant UCEC-US X 47100187 47100187 single base substitution C T missense_variant S23L 68C>T UCEC-US X 47100187 47100187 single base substitution C T missense_variant S253L 758C>T UCEC-US X 47100187 47100187 single base substitution C T missense_variant S296L 887C>T UCEC-US X 47100187 47100187 single base substitution C T upstream_gene_variant UCEC-US X 47100702 47100702 single base substitution C T downstream_gene_variant UCEC-US X 47100702 47100702 single base substitution C T exon_variant UCEC-US X 47100702 47100702 single base substitution C T synonymous_variant T291T 873C>T UCEC-US X 47100702 47100702 single base substitution C T synonymous_variant T334T 1002C>T UCEC-US X 47100702 47100702 single base substitution C T synonymous_variant T61T 183C>T UCEC-US X 47100702 47100702 single base substitution C T upstream_gene_variant UCEC-US X 47100774 47100774 single base substitution C T downstream_gene_variant UCEC-US X 47100774 47100774 single base substitution C T exon_variant UCEC-US X 47100774 47100774 single base substitution C T synonymous_variant I315I 945C>T UCEC-US X 47100774 47100774 single base substitution C T synonymous_variant I358I 1074C>T UCEC-US X 47100774 47100774 single base substitution C T synonymous_variant I85I 255C>T UCEC-US X 47100774 47100774 single base substitution C T upstream_gene_variant UCEC-US X 47100807 47100807 single base substitution G A downstream_gene_variant UCEC-US X 47100807 47100807 single base substitution G A exon_variant UCEC-US X 47100807 47100807 single base substitution G A synonymous_variant A326A 978G>A UCEC-US X 47100807 47100807 single base substitution G A synonymous_variant A369A 1107G>A UCEC-US X 47100807 47100807 single base substitution G A synonymous_variant A96A 288G>A UCEC-US X 47100807 47100807 single base substitution G A upstream_gene_variant UCEC-US X 47101047 47101047 single base substitution G A downstream_gene_variant UCEC-US X 47101047 47101047 single base substitution G A exon_variant UCEC-US X 47101047 47101047 single base substitution G A synonymous_variant V376V 1128G>A UCEC-US X 47101047 47101047 single base substitution G A synonymous_variant V419V 1257G>A UCEC-US X 47101047 47101047 single base substitution G A upstream_gene_variant UCEC-US X 47101534 47101534 single base substitution C T downstream_gene_variant UCEC-US X 47101534 47101534 single base substitution C T exon_variant UCEC-US X 47101534 47101534 single base substitution C T synonymous_variant I411I 1233C>T UCEC-US X 47101534 47101534 single base substitution C T synonymous_variant I454I 1362C>T UCEC-US X 47101534 47101534 single base substitution C T upstream_gene_variant UCEC-US X 47101616 47101616 single base substitution T C downstream_gene_variant UCEC-US X 47101616 47101616 single base substitution T C exon_variant UCEC-US X 47101616 47101616 single base substitution T C missense_variant C439R 1315T>C UCEC-US X 47101616 47101616 single base substitution T C missense_variant C482R 1444T>C UCEC-US X 47101616 47101616 single base substitution T C upstream_gene_variant UCEC-US X 47102117 47102117 single base substitution C T downstream_gene_variant UCEC-US X 47102117 47102117 single base substitution C T splice_region_variant UCEC-US X 47102117 47102117 single base substitution C T upstream_gene_variant UCEC-US X 47104771 47104771 single base substitution C A downstream_gene_variant UCEC-US X 47104771 47104771 single base substitution C A splice_region_variant UCEC-US X 47104771 47104771 single base substitution C A upstream_gene_variant UCEC-US X 47104843 47104843 single base substitution C A downstream_gene_variant UCEC-US X 47104843 47104843 single base substitution C A exon_variant UCEC-US X 47104843 47104843 single base substitution C A synonymous_variant L744L 2232C>A UCEC-US X 47104843 47104843 single base substitution C A synonymous_variant L787L 2361C>A UCEC-US X 47104843 47104843 single base substitution C A upstream_gene_variant UCEC-US X 47107095 47107095 single base substitution C T downstream_gene_variant UCEC-US X 47107095 47107095 single base substitution C T exon_variant UCEC-US X 47107095 47107095 single base substitution C T synonymous_variant I874I 2622C>T UCEC-US X 47107095 47107095 single base substitution C T synonymous_variant I917I 2751C>T UCEC-US X 47107324 47107324 single base substitution A T downstream_gene_variant UCEC-US X 47107324 47107324 single base substitution A T exon_variant UCEC-US X 47107324 47107324 single base substitution A T missense_variant N920Y 2758A>T UCEC-US X 47107324 47107324 single base substitution A T missense_variant N963Y 2887A>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MR-06 COSM3561805 c.2153C>T p.T718I Substitution - Missense 23:47244862-47244862 + T3724 COSM4739638 c.2122delC p.P709fs*14 Deletion - Frameshift 23:47244831-47244831 + LUAD-CHTN-MAD06-00668 COSM360608 c.1468A>G p.I490V Substitution - Missense 23:47242241-47242241 + S02139 COSM5674731 c.2295G>T p.V765V Substitution - coding silent 23:47245378-47245378 + B60-Tumor COSM1756585 c.1204C>T p.Q402* Substitution - Nonsense 23:47241595-47241595 + LS174T COSM4646246 c.1329G>A p.W443* Substitution - Nonsense 23:47242102-47242102 + 8014573 COSM3390658 c.1320G>A p.Q440Q Substitution - coding silent 23:47242093-47242093 + 100912 COSM95682 c.568C>T p.Q190* Substitution - Nonsense 23:47239811-47239811 + TCGA-13-1498-01 COSM76964 c.1363G>A p.V455M Substitution - Missense 23:47242136-47242136 + S02245 COSM360608 c.1468A>G p.I490V Substitution - Missense 23:47242241-47242241 + 6T COSM270524 c.1749C>A p.G583G Substitution - coding silent 23:47243432-47243432 + TCGA-E2-A10A-01 COSM457552 c.1341A>G p.K447K Substitution - coding silent 23:47242114-47242114 + TCGA-DI-A1NN-01 COSM1121771 c.1257G>A p.V419V Substitution - coding silent 23:47241648-47241648 + TCGA-BR-4201-01 COSM4109641 c.541C>T p.R181C Substitution - Missense 23:47239476-47239476 + LUAD-RT-S01702 COSM379507 c.2804G>A p.R935H Substitution - Missense 23:47247842-47247842 + 509LT COSM4386317 c.2020G>C p.G674R Substitution - Missense 23:47244729-47244729 + TCGA-AP-A051-01 COSM1121773 c.1444T>C p.C482R Substitution - Missense 23:47242217-47242217 + TCGA-DU-7008-01 COSM3973677 c.1255G>A p.V419M Substitution - Missense 23:47241646-47241646 + TCGA-DC-6158-01 COSM1570154 c.1845C>T p.H615H Substitution - coding silent 23:47243528-47243528 + TCGA-B6-A0IO-01 COSM457551 c.264C>T p.G88G Substitution - coding silent 23:47233178-47233178 + Br27P COSM40740 c.2164G>A p.V722M Substitution - Missense 23:47244873-47244873 + YUDIVI COSM5412712 c.2825C>T p.S942L Substitution - Missense 23:47247863-47247863 + TCGA-B5-A0K1-01 COSM1121780 c.2862A>C p.P954P Substitution - coding silent 23:47247900-47247900 + Au1 COSM5597856 c.2453G>A p.W818* Substitution - Nonsense 23:47247125-47247125 + TCGA-AG-A002-01 COSM264594 c.2778C>A p.F926L Substitution - Missense 23:47247816-47247816 + SJMB003 COSM255760 c.818T>C p.I273T Substitution - Missense 23:47240594-47240594 + TCGA-12-0616-01 COSM757203 c.2216-1G>C p.? Unknown 23:47245015-47245015 + CHC313T COSM4793470 c.1002C>A p.T334T Substitution - coding silent 23:47241303-47241303 + TCGA-Q1-A73O-01 COSM4834580 c.2595G>A p.S865S Substitution - coding silent 23:47247349-47247349 + 2293750 COSM4606711 c.1309-3C>G p.? Unknown 23:47242079-47242079 + TCGA-16-0846-01 COSM757203 c.2216-1G>C p.? Unknown 23:47245015-47245015 + TCGA-BS-A0UF-01 COSM1121779 c.2751C>T p.I917I Substitution - coding silent 23:47247696-47247696 + TCGA-FW-A3R5-06 COSM3914014 c.1173C>T p.S391S Substitution - coding silent 23:47241564-47241564 + MO_1232 COSM5570763 c.604G>A p.V202I Substitution - Missense 23:47239847-47239847 + IPMN36 COSM248910 c.2786G>T p.R929L Substitution - Missense 23:47247824-47247824 + TCGA-BS-A0UV-01 COSM1121757 c.59C>T p.P20L Substitution - Missense 23:47232973-47232973 + TCGA-36-1571-01 COSM120046 c.329A>G p.Y110C Substitution - Missense 23:47239093-47239093 + TCGA-B5-A11G-01 COSM1121781 c.2887A>T p.N963Y Substitution - Missense 23:47247925-47247925 + TCGA-AC-A3W5-01 COSM3844774 c.499G>T p.V167F Substitution - Missense 23:47239434-47239434 + LUAD-S01315 COSM385731 c.1379G>C p.G460A Substitution - Missense 23:47242152-47242152 + TCGA-AA-3821-01 COSM294937 c.1959_1960insG p.D655fs*2 Insertion - Frameshift 23:47244537-47244538 + TCGA-GF-A6C9-06 COSM4901678 c.580G>A p.V194M Substitution - Missense 23:47239823-47239823 + BD121T COSM4109642 c.855C>T p.S285S Substitution - coding silent 23:47240631-47240631 + TCGA-19-1789 COSM2156002 c.1320G>T p.Q440H Substitution - Missense 23:47242093-47242093 + TCGA-AP-A051-01 COSM1121762 c.512G>A p.G171D Substitution - Missense 23:47239447-47239447 + TCGA-BR-6566-01 COSM4109644 c.1368C>T p.D456D Substitution - coding silent 23:47242141-47242141 + BD72T COSM5513790 c.1552A>G p.K518E Substitution - Missense 23:47242457-47242457 + pfg062T COSM4754404 c.1197T>G p.H399Q Substitution - Missense 23:47241588-47241588 + TCGA-JX-A3Q0-01 COSM4824093 c.2464G>A p.E822K Substitution - Missense 23:47247136-47247136 + TCGA-66-2781-01 COSM757203 c.2216-1G>C p.? Unknown 23:47245015-47245015 + 587348 COSM1231952 c.1078G>A p.E360K Substitution - Missense 23:47241379-47241379 + 90226 COSM330567 c.71T>C p.V24A Substitution - Missense 23:47232985-47232985 + TCGA-AA-3492-01 COSM1468124 c.1956C>T p.D652D Substitution - coding silent 23:47244534-47244534 + TCGA-AB-2877-03 COSM1319434 c.2321T>A p.M774K Substitution - Missense 23:47245404-47245404 + TCGA-D1-A174-01 COSM1121759 c.165G>A p.A55A Substitution - coding silent 23:47233079-47233079 + PCSI_0472_Pa_P_526 COSM5031525 c.1408G>A p.D470N Substitution - Missense 23:47242181-47242181 + TCGA-EE-A3AF-06 COSM3561803 c.1817C>T p.S606F Substitution - Missense 23:47243500-47243500 + S01542 COSM5669854 c.274C>A p.R92R Substitution - coding silent 23:47233188-47233188 + TCGA-14-0865 COSM2155098 c.81T>G p.R27R Substitution - coding silent 23:47232995-47232995 + TCGA-BR-8077-01 COSM4109640 c.126G>A p.T42T Substitution - coding silent 23:47233040-47233040 + TCGA-BS-A0UV-01 COSM1121775 c.1710C>T p.F570F Substitution - coding silent 23:47242718-47242718 + SNU-C4 COSM4654561 c.1609C>T p.P537S Substitution - Missense 23:47242514-47242514 + TCGA-HT-7475-01 COSM3973676 c.142G>A p.A48T Substitution - Missense 23:47233056-47233056 + TCGA-AC-A23H-01 COSM3844775 c.1014C>G p.L338L Substitution - coding silent 23:47241315-47241315 + OSCC-GB_00060111 COSM270524 c.1749C>A p.G583G Substitution - coding silent 23:47243432-47243432 + TCGA-AX-A06H-01 COSM1121766 c.787G>A p.D263N Substitution - Missense 23:47240427-47240427 + TCGA-BS-A0UV-01 COSM1121778 c.2361C>A p.L787L Substitution - coding silent 23:47245444-47245444 + B104-0 COSM1756586 c.2038G>C p.E680Q Substitution - Missense 23:47244747-47244747 + S02347 COSM5694399 c.2549G>C p.R850P Substitution - Missense 23:47247221-47247221 + 587234 COSM1231954 c.1913G>A p.R638Q Substitution - Missense 23:47243596-47243596 + TCGA-EE-A3JE-06 COSM3914015 c.1298G>A p.R433Q Substitution - Missense 23:47241689-47241689 + 2334188 COSM324209 c.1528G>T p.E510* Substitution - Nonsense 23:47242301-47242301 + TCGA-21-5782-01 COSM757208 c.1403G>T p.C468F Substitution - Missense 23:47242176-47242176 + LUAD-CHTN-3090346 COSM357142 c.1243G>A p.D415N Substitution - Missense 23:47241634-47241634 + B89-12 COSM1756587 c.2381T>A p.L794Q Substitution - Missense 23:47245464-47245464 + Pat_60_B COSM5877883 c.25G>A p.G9R Substitution - Missense 23:47232939-47232939 + sysucc-2215T COSM5765612 c.2260C>T p.R754C Substitution - Missense 23:47245060-47245060 + TCGA-AA-3516-01 COSM291645 c.529C>T p.P177S Substitution - Missense 23:47239464-47239464 + TCGA-AP-A051-01 COSM1121761 c.456C>T p.G152G Substitution - coding silent 23:47239391-47239391 + TCGA-66-2763-01 COSM757206 c.1533G>T p.Q511H Substitution - Missense 23:47242306-47242306 + C608 COSM4443142 c.860A>C p.Q287P Substitution - Missense 23:47240636-47240636 + LUAD-E01317 COSM403895 c.2317G>A p.V773M Substitution - Missense 23:47245400-47245400 + PA285 COSM1163565 c.1780C>A p.L594M Substitution - Missense 23:47243463-47243463 + TCGA-A3-3363-01 COSM1497265 c.356G>A p.G119E Substitution - Missense 23:47239120-47239120 + TCGA-AA-3821-01 COSM267732 c.856G>A p.A286T Substitution - Missense 23:47240632-47240632 + 509T COSM4386317 c.2020G>C p.G674R Substitution - Missense 23:47244729-47244729 + ESCC_152 COSM5645544 c.1123C>T p.R375C Substitution - Missense 23:47241424-47241424 + CHC892T COSM4959990 c.1191G>A p.Q397Q Substitution - coding silent 23:47241582-47241582 + TCGA-AP-A059-01 COSM1121765 c.708C>T p.P236P Substitution - coding silent 23:47240348-47240348 + OV207 COSM252911 c.79C>T p.R27C Substitution - Missense 23:47232993-47232993 + TCGA-B5-A11E-01 COSM1121767 c.887C>T p.S296L Substitution - Missense 23:47240788-47240788 + TCGA-B5-A11I-01 COSM1121776 c.1920-2A>G p.? Unknown 23:47244496-47244496 + TCGA-CG-5721-01 COSM4109643 c.1075G>A p.A359T Substitution - Missense 23:47241376-47241376 + TCGA-AA-3672-01 COSM267732 c.856G>A p.A286T Substitution - Missense 23:47240632-47240632 + TCGA-AG-A01N-01 COSM5073577 c.1514C>T p.P505L Substitution - Missense 23:47242287-47242287 + TCGA-A6-6780-01 COSM1468123 c.1607C>T p.S536L Substitution - Missense 23:47242512-47242512 + TCGA-D7-6528-01 COSM4109647 c.2279A>T p.E760V Substitution - Missense 23:47245079-47245079 + TCGA-AP-A059-01 COSM1121760 c.432C>T p.R144R Substitution - coding silent 23:47239367-47239367 + TCGA-EE-A2ML-06 COSM3561806 c.2549G>A p.R850Q Substitution - Missense 23:47247221-47247221 + TP_2020 COSM5568909 c.2694C>T p.S898S Substitution - coding silent 23:47247639-47247639 + CSCC-62-T COSM4480163 c.2395C>T p.P799S Substitution - Missense 23:47245478-47245478 + PAPNNX COSM5004577 c.1874G>A p.R625H Substitution - Missense 23:47243557-47243557 + TCGA-GN-A26C-01 COSM150784 c.2600C>T p.P867L Substitution - Missense 23:47247354-47247354 + CHEWS015 COSM2965820 c.2310C>T p.V770V Substitution - coding silent 23:47245393-47245393 + TCGA-FU-A3NI-01 COSM4849216 c.2138G>A p.R713H Substitution - Missense 23:47244847-47244847 + B60 COSM1756585 c.1204C>T p.Q402* Substitution - Nonsense 23:47241595-47241595 + TCGA-AX-A0J0-01 COSM1121758 c.121C>T p.R41W Substitution - Missense 23:47233035-47233035 + 7b COSM4657779 c.1217C>G p.S406* Substitution - Nonsense 23:47241608-47241608 + TCGA-EE-A2GU-06 COSM3561804 c.1941C>T p.N647N Substitution - coding silent 23:47244519-47244519 + GC_356T-GC_356N COSM4774676 c.697C>G p.L233V Substitution - Missense 23:47240337-47240337 + 587342 COSM1231953 c.665-1G>T p.? Unknown 23:47240304-47240304 + TCGA-BS-A0UV-01 COSM1121764 c.538G>A p.E180K Substitution - Missense 23:47239473-47239473 + tumor_4113825 COSM5947712 c.1935A>C p.K645N Substitution - Missense 23:47244513-47244513 + TCGA-LP-A4AV-01 COSM4825464 c.457G>A p.E153K Substitution - Missense 23:47239392-47239392 + TCGA-D1-A103-01 COSM1121777 c.2289C>A p.G763G Substitution - coding silent 23:47245372-47245372 + Pat_59_A COSM5877884 c.47G>A p.R16Q Substitution - Missense 23:47232961-47232961 + TCGA-60-2723-01 COSM757207 c.1509G>T p.M503I Substitution - Missense 23:47242282-47242282 + BD121T COSM5515865 c.2271C>T p.D757D Substitution - coding silent 23:47245071-47245071 + 0030_CRUK_PC_0030_T1_DNA COSM5423187 c.349G>A p.V117M Substitution - Missense 23:47239113-47239113 + B89-12-Tumor COSM1756587 c.2381T>A p.L794Q Substitution - Missense 23:47245464-47245464 + TCGA-22-4613-01 COSM757209 c.1205A>T p.Q402L Substitution - Missense 23:47241596-47241596 + Pat_50_A COSM5877885 c.1045C>A p.R349S Substitution - Missense 23:47241346-47241346 + TCGA-C5-A1MJ-01 COSM4842869 c.2590G>A p.E864K Substitution - Missense 23:47247344-47247344 + TCGA-22-5485-01 COSM757204 c.1974A>G p.E658E Substitution - coding silent 23:47244683-47244683 + TCGA-AA-3715-01 COSM270524 c.1749C>A p.G583G Substitution - coding silent 23:47243432-47243432 + TCGA-B5-A11E-01 COSM1121769 c.1074C>T p.I358I Substitution - coding silent 23:47241375-47241375 + LUAD-RT-S01813 COSM383643 c.1840_1841GG>TT p.G614>? Complex 23:47243523-47243524 + OSCC-GB_01010111 COSM4882245 c.616G>C p.D206H Substitution - Missense 23:47239859-47239859 + PDA_066 COSM4109645 c.1516C>T p.R506C Substitution - Missense 23:47242289-47242289 + BD110T COSM5514376 c.2308G>T p.V770F Substitution - Missense 23:47245391-47245391 + TCGA-C5-A1BJ-01 COSM4830650 c.1374C>T p.F458F Substitution - coding silent 23:47242147-47242147 + TCGA-B7-5816-01 COSM4109645 c.1516C>T p.R506C Substitution - Missense 23:47242289-47242289 + TCGA-B0-4828-01 COSM3364011 c.1145T>A p.F382Y Substitution - Missense 23:47241446-47241446 + H1155 COSM1195676 c.430C>T p.R144C Substitution - Missense 23:47239365-47239365 + TCGA-06-0241 COSM2151125 c.359G>A p.G120E Substitution - Missense 23:47239123-47239123 + TCGA-DR-A0ZM-01 COSM462225 c.2470C>G p.L824V Substitution - Missense 23:47247142-47247142 + T2991 COSM4739637 c.2073G>T p.T691T Substitution - coding silent 23:47244782-47244782 + TCGA-OL-A5RW-01 COSM3844777 c.2360T>C p.L787P Substitution - Missense 23:47245443-47245443 + TCGA-D1-A17Q-01 COSM1121779 c.2751C>T p.I917I Substitution - coding silent 23:47247696-47247696 + 56518 COSM1582937 c.1157T>G p.V386G Substitution - Missense 23:47241548-47241548 + TCGA-14-0865 COSM2154928 c.78G>A p.G26G Substitution - coding silent 23:47232992-47232992 + ESCC_127 COSM5641588 c.1922G>T p.R641L Substitution - Missense 23:47244500-47244500 + LUAD-S01302 COSM404187 c.2748G>T p.Q916H Substitution - Missense 23:47247693-47247693 + LC_S3 COSM1190538 c.1300C>G p.P434A Substitution - Missense 23:47241691-47241691 + EWS834 COSM4589434 c.2727C>A p.V909V Substitution - coding silent 23:47247672-47247672 + CHC313T COSM4793470 c.1002C>A p.T334T Substitution - coding silent 23:47241303-47241303 + GC8_T COSM150784 c.2600C>T p.P867L Substitution - Missense 23:47247354-47247354 + TCGA-02-0055-01 COSM2149069 c.1824C>T p.Y608Y Substitution - coding silent 23:47243507-47243507 + YULONE COSM5412711 c.2754G>C p.E918D Substitution - Missense 23:47247699-47247699 + TCGA-BS-A0UV-01 COSM1121772 c.1362C>T p.I454I Substitution - coding silent 23:47242135-47242135 + LUAD-B02216 COSM391182 c.1114delG p.G372fs*48 Deletion - Frameshift 23:47241415-47241415 + HDC101 COSM4636198 c.2536G>C p.E846Q Substitution - Missense 23:47247208-47247208 + TCGA-14-0865 COSM2154929 c.76G>A p.G26R Substitution - Missense 23:47232990-47232990 + TCGA-B5-A11X-01 COSM1121774 c.1660T>C p.Y554H Substitution - Missense 23:47242668-47242668 + TCGA-GM-A2D9-01 COSM3844776 c.2302G>A p.D768N Substitution - Missense 23:47245385-47245385 + TCGA-AY-6196-01 COSM1468121 c.1044C>T p.F348F Substitution - coding silent 23:47241345-47241345 + TCGA-D5-5538-01 COSM1468126 c.2793C>T p.D931D Substitution - coding silent 23:47247831-47247831 + B104-0-Tumor COSM1756586 c.2038G>C p.E680Q Substitution - Missense 23:47244747-47244747 + TCGA-FS-A1ZK-06 COSM3561807 c.2615A>T p.Y872F Substitution - Missense 23:47247369-47247369 + PT37 COSM5921962 c.40C>A p.R14S Substitution - Missense 23:47232954-47232954 + TCGA-AP-A056-01 COSM1121763 c.519G>A p.E173E Substitution - coding silent 23:47239454-47239454 + SJMB003 COSM255760 c.818T>C p.I273T Substitution - Missense 23:47240594-47240594 + TCGA-02-0055 COSM2149069 c.1824C>T p.Y608Y Substitution - coding silent 23:47243507-47243507 + CHC892T COSM4959990 c.1191G>A p.Q397Q Substitution - coding silent 23:47241582-47241582 + T2418 COSM4739639 c.2785C>T p.R929C Substitution - Missense 23:47247823-47247823 + TCGA-14-0865 COSM2155001 c.83T>G p.L28R Substitution - Missense 23:47232997-47232997 + TCGA-D9-A6E9-06 COSM4399514 c.1786G>T p.E596* Substitution - Nonsense 23:47243469-47243469 + TCGA-K4-A3WU-01 COSM3800620 c.141C>T p.V47V Substitution - coding silent 23:47233055-47233055 + TCGA-HT-8010-01 COSM3973678 c.1598C>T p.T533M Substitution - Missense 23:47242503-47242503 + TCGA-CG-5721-01 COSM4109648 c.2696G>A p.G899D Substitution - Missense 23:47247641-47247641 + TCGA-CG-4436-01 COSM4109646 c.2137C>T p.R713C Substitution - Missense 23:47244846-47244846 + TCGA-14-0865 COSM2155097 c.80G>T p.R27L Substitution - Missense 23:47232994-47232994 + TCGA-BI-A0VR-01 COSM462226 c.2206G>C p.E736Q Substitution - Missense 23:47244915-47244915 + pfg181T COSM4754403 c.11C>T p.A4V Substitution - Missense 23:47232925-47232925 + TCGA-66-2754-01 COSM757205 c.1644C>T p.H548H Substitution - coding silent 23:47242652-47242652 + TCGA-BH-A18V-01 COSM457553 c.1526C>T p.P509L Substitution - Missense 23:47242299-47242299 + TCGA-06-0241-01 COSM2151125 c.359G>A p.G120E Substitution - Missense 23:47239123-47239123 + AOCS-134-3-9 COSM4149059 c.1471A>G p.S491G Substitution - Missense 23:47242244-47242244 + Pat_60_A COSM5877883 c.25G>A p.G9R Substitution - Missense 23:47232939-47232939 + 61 COSM189772 c.1345C>T p.R449W Substitution - Missense 23:47242118-47242118 + TCGA-14-0865 COSM2155000 c.82C>A p.L28I Substitution - Missense 23:47232996-47232996 + PCSI_0083_Pa_X COSM1121766 c.787G>A p.D263N Substitution - Missense 23:47240427-47240427 + BD124T COSM5494280 c.792G>A p.A264A Substitution - coding silent 23:47240432-47240432 + Au5 COSM5606176 c.29G>A p.G10E Substitution - Missense 23:47232943-47232943 + TCGA-A5-A0VP-01 COSM1121770 c.1107G>A p.A369A Substitution - coding silent 23:47241408-47241408 + TCGA-A3-3374-01 COSM1497264 c.1954G>T p.D652Y Substitution - Missense 23:47244532-47244532 + TCGA-BS-A0UF-01 COSM1121768 c.1002C>T p.T334T Substitution - coding silent 23:47241303-47241303 + TCGA-HJ-7597-01 COSM4109642 c.855C>T p.S285S Substitution - coding silent 23:47240631-47240631 + CMPC11-3104 COSM5095254 c.2332C>G p.P778A Substitution - Missense 23:47245415-47245415 + SW48 COSM2965797 c.1132G>A p.V378M Substitution - Missense 23:47241433-47241433 + Pat_14_A COSM5877886 c.2171C>T p.S724F Substitution - Missense 23:47244880-47244880 + TCGA-14-0865 COSM2155099 c.79C>A p.R27S Substitution - Missense 23:47232993-47232993 + S01023 COSM5666886 c.813G>A p.L271L Substitution - coding silent 23:47240589-47240589 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.171487;Hs.171501 Xp11.23 300050

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y110C c.329A>G X 47098492 OV A G Synonymous p.E658E c.1974A>G X 47104082 LUSC A G Synonymous p.K447K c.1341A>G X 47101513 BRCA A T Missense p.E760V c.2279A>T X 47104478 STAD A T Missense p.E864V c.2591A>T X 47106744 COREAD A T Missense p.N963Y c.2887A>T X 47107324 UCEC A T Missense p.Q402L c.1205A>T X 47100995 LUSC A T Missense p.Y872F c.2615A>T X 47106768 CM C A Synonymous p.R838R c.2512C>A X 47106583 STAD C T IntronicSNV . c.2216-27C>T X 47104388 CM C T IntronicSNV . c.547-145C>T X 47099044 CM C T Missense p.P509L c.1526C>T X 47101698 BRCA C T Missense p.P867L c.2600C>T X 47106753 CM C T Missense p.R181C c.541C>T X 47098875 STAD C T Missense p.R506C c.1516C>T X 47101688 STAD C T Missense p.R577C c.1729C>T X 47102811 CM C T Missense p.R713C c.2137C>T X 47104245 STAD C T Missense p.S606F c.1817C>T X 47102899 CM C T Synonymous p.D660D c.1980C>T X 47104088 BRCA C T Synonymous p.F337F c.1011C>T X 47100711 CM C T Synonymous p.G88G c.264C>T X 47092577 BRCA C T Synonymous p.H548H c.1644C>T X 47102051 LUSC C T Synonymous p.N647N c.1941C>T X 47103918 CM C T Synonymous p.V498V c.1494C>T X 47101666 CM C T Synonymous p.Y608Y c.1824C>T X 47102906 GBM G A Missense p.A48T c.142G>A X 47092455 LGG G A Missense p.D263N c.787G>A X 47099826 UCEC G A Missense p.D650N c.1948G>A X 47103925 CM G A Missense p.D931N c.2791G>A X 47107228 LUAD G A Missense p.G120E c.359G>A X 47098522 GBM G A Missense p.G771E c.2312G>A X 47104794 LGG G A Missense p.G882E c.2645G>A X 47106798 CM G A Missense p.R433Q c.1298G>A X 47101088 CM G A Missense p.R507H c.1520G>A X 47101692 HNSC G A Missense p.R850Q c.2549G>A X 47106620 CM G A Missense p.V419M c.1255G>A X 47101045 LGG G A Missense p.V455M c.1363G>A X 47101535 OV G A Missense p.V722M c.2164G>A X 47104272 GBM G A Synonymous p.A369A c.1107G>A X 47100807 UCEC G A Synonymous p.A55A c.165G>A X 47092478 UCEC G A Synonymous p.L635L c.1905G>A X 47102987 CM G A Synonymous p.L820L c.2460G>A X 47106531 BRCA G A Synonymous p.V419V c.1257G>A X 47101047 UCEC G C Missense p.E140Q c.418G>C X 47098752 HNSC G C SpliceAcceptorSNV . c.2216-1G>C X 47104414 GBM G C SpliceAcceptorSNV . c.2216-1G>C X 47104414 LUSC GG TT Missense p.A61S c.180_181delinsTT X 47092493 LUAD G T Missense p.C468F c.1403G>T X 47101575 LUSC G T Missense p.D853Y c.2557G>T X 47106710 LUAD G T Missense p.E918D c.2754G>T X 47107098 LUAD G T Missense p.M503I c.1509G>T X 47101681 LUSC G T Missense p.Q511H c.1533G>T X 47101705 LUSC G T Nonsense p.E510* c.1528G>T X 47101700 SCLC G T Synonymous p.T721T c.2163G>T X 47104271 STAD G T Synonymous p.V643V c.1929G>T X 47103906 LUAD T A Missense p.F382Y c.1145T>A X 47100845 RCCC T A Missense p.M774K c.2321T>A X 47104803 AML T C Missense p.L719P c.2156T>C X 47104264 CM