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 73811494 73811494 + Missense_Mutation SNP C C G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chrX:73811494C>G c.1656G>C c.(1654-1656)caG>caC p.Q552H BLCA 23 73811691 73811691 + Missense_Mutation SNP C C T TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chrX:73811691C>T c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K BLCA 23 73811938 73811938 + Silent SNP G G C TCGA-HQ-A2OE-01A-11D-A202-08 TCGA-HQ-A2OE-10A-01D-A202-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T BLCA 23 73812092 73812092 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chrX:73812092G>A c.1058C>T c.(1057-1059)aCt>aTt p.T353I BLCA 23 73812256 73812256 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chrX:73812256T>C c.894A>G c.(892-894)gcA>gcG p.A298A BLCA 23 73812302 73812302 + Missense_Mutation SNP C C T TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chrX:73812302C>T c.848G>A c.(847-849)aGa>aAa p.R283K BLCA 23 73812516 73812516 + Nonsense_Mutation SNP T T A TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chrX:73812516T>A c.634A>T c.(634-636)Aga>Tga p.R212* BLCA 23 73812517 73812517 + Silent SNP T T A TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chrX:73812517T>A c.633A>T c.(631-633)gcA>gcT p.A211A BLCA 23 73812835 73812835 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chrX:73812835G>A c.315C>T c.(313-315)gtC>gtT p.V105V BLCA 23 73814150 73814150 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chrX:73814150C>T c.244G>A c.(244-246)Gaa>Aaa p.E82K BRCA 23 73812045 73812045 + Missense_Mutation SNP G G A TCGA-E2-A1BC-01A-11D-A14G-09 TCGA-E2-A1BC-11A-32D-A12Q-09 g.chrX:73812045G>A c.1105C>T c.(1105-1107)Cgt>Tgt p.R369C BRCA 23 73812248 73812248 + Nonsense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chrX:73812248G>C c.902C>G c.(901-903)tCa>tGa p.S301* BRCA 23 73812681 73812681 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chrX:73812681C>G c.469G>C c.(469-471)Gag>Cag p.E157Q BRCA 23 73814166 73814166 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chrX:73814166T>C c.228A>G c.(226-228)ccA>ccG p.P76P CESC 23 73811719 73811719 + Silent SNP A A C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chrX:73811719A>C c.1431T>G c.(1429-1431)ccT>ccG p.P477P CESC 23 73812025 73812025 + Silent SNP C C G TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chrX:73812025C>G c.1125G>C c.(1123-1125)gtG>gtC p.V375V CESC 23 73812278 73812278 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chrX:73812278G>T c.872C>A c.(871-873)aCa>aAa p.T291K CESC 23 73812297 73812297 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chrX:73812297G>A c.853C>T c.(853-855)Ctt>Ttt p.L285F COAD 23 73811647 73811647 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chrX:73811647T>C c.1503A>G c.(1501-1503)tcA>tcG p.S501S COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COAD 23 73811648 73811649 + Missense_Mutation DNP GA GA AG TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chrX:73811648_73811649GA>AG c.1501_1502TC>CT c.(1501-1503)TCa>CTa p.S501L COAD 23 73811649 73811649 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:73811649A>G c.1501T>C c.(1501-1503)Tca>Cca p.S501P COAD 23 73811990 73811990 + Missense_Mutation SNP C C T TCGA-AA-3678-01A-01W-0900-09 TCGA-AA-3678-10A-01W-0900-09 g.chrX:73811990C>T c.1160G>A c.(1159-1161)cGt>cAt p.R387H COAD 23 73812056 73812056 + Missense_Mutation SNP C C T TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chrX:73812056C>T c.1094G>A c.(1093-1095)cGt>cAt p.R365H COAD 23 73812150 73812150 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:73812150G>A c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W COAD 23 73812799 73812799 + Silent SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chrX:73812799T>C c.351A>G c.(349-351)agA>agG p.R117R COAD 23 73812801 73812801 + Missense_Mutation SNP T T C TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chrX:73812801T>C c.349A>G c.(349-351)Aga>Gga p.R117G COAD 23 73812801 73812801 + Nonsense_Mutation SNP T T A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:73812801T>A c.349A>T c.(349-351)Aga>Tga p.R117* COAD 23 73814190 73814190 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:73814190T>C c.204A>G c.(202-204)ctA>ctG p.L68L COADREAD 23 73811647 73811647 + Silent SNP T T C TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chrX:73811647T>C c.1503A>G c.(1501-1503)tcA>tcG p.S501S COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L COADREAD 23 73811648 73811649 + Missense_Mutation DNP GA GA AG TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chrX:73811648_73811649GA>AG c.1501_1502TC>CT c.(1501-1503)TCa>CTa p.S501L COADREAD 23 73811649 73811649 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chrX:73811649A>G c.1501T>C c.(1501-1503)Tca>Cca p.S501P COADREAD 23 73811990 73811990 + Missense_Mutation SNP C C T TCGA-AA-3678-01A-01W-0900-09 TCGA-AA-3678-10A-01W-0900-09 g.chrX:73811990C>T c.1160G>A c.(1159-1161)cGt>cAt p.R387H COADREAD 23 73811991 73811991 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:73811991G>A c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C COADREAD 23 73812056 73812056 + Missense_Mutation SNP C C T TCGA-A6-6651-01A-21D-1835-10 TCGA-A6-6651-10A-01D-1835-10 g.chrX:73812056C>T c.1094G>A c.(1093-1095)cGt>cAt p.R365H COADREAD 23 73812150 73812150 + Missense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:73812150G>A c.1000C>T c.(1000-1002)Cgg>Tgg p.R334W COADREAD 23 73812799 73812799 + Silent SNP T T C TCGA-F4-6808-01A-11D-1835-10 TCGA-F4-6808-10A-01D-1835-10 g.chrX:73812799T>C c.351A>G c.(349-351)agA>agG p.R117R COADREAD 23 73812801 73812801 + Missense_Mutation SNP T T C TCGA-F4-6855-01A-11D-1924-10 TCGA-F4-6855-10A-01D-1924-10 g.chrX:73812801T>C c.349A>G c.(349-351)Aga>Gga p.R117G COADREAD 23 73812801 73812801 + Nonsense_Mutation SNP T T A TCGA-CM-4752-01A-01D-1408-10 TCGA-CM-4752-10A-01D-1408-10 g.chrX:73812801T>A c.349A>T c.(349-351)Aga>Tga p.R117* COADREAD 23 73814190 73814190 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:73814190T>C c.204A>G c.(202-204)ctA>ctG p.L68L ESCA 23 73812330 73812330 + Nonsense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chrX:73812330G>A c.820C>T c.(820-822)Caa>Taa p.Q274* GBM 23 73811411 73811411 + Missense_Mutation SNP C C T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 g.chrX:73811411C>T c.1739G>A c.(1738-1740)gGc>gAc p.G580D GBM 23 73811531 73811531 + Missense_Mutation SNP T T C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chrX:73811531T>C c.1619A>G c.(1618-1620)gAt>gGt p.D540G GBMLGG 23 73811411 73811411 + Missense_Mutation SNP C C T TCGA-14-0787-01A-01W-0424-08 TCGA-14-0787-10A-01W-0424-08 g.chrX:73811411C>T c.1739G>A c.(1738-1740)gGc>gAc p.G580D GBMLGG 23 73811531 73811531 + Missense_Mutation SNP T T C TCGA-19-1790-01B-01D-1353-08 TCGA-19-1790-10B-01D-1353-08 g.chrX:73811531T>C c.1619A>G c.(1618-1620)gAt>gGt p.D540G GBMLGG 23 73811938 73811938 + Silent SNP G G C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T GBMLGG 23 73811938 73811938 + Silent SNP G G C TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T GBMLGG 23 73811938 73811938 + Silent SNP G G C TCGA-HT-7478-01A-11D-2024-08 TCGA-HT-7478-10A-01D-2024-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T GBMLGG 23 73812199 73812200 + Frame_Shift_Ins INS - - G TCGA-HW-A5KL-01A-11D-A27K-08 TCGA-HW-A5KL-10A-01D-A27N-08 g.chrX:73812199_73812200insG c.950_951insC c.(949-951)ccafs p.P317fs GBMLGG 23 73812349 73812349 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chrX:73812349G>A c.801C>T c.(799-801)caC>caT p.H267H GBMLGG 23 73815757 73815757 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:73815757C>T c.56G>A c.(55-57)cGc>cAc p.R19H HNSC 23 73811445 73811445 + Missense_Mutation SNP T T G TCGA-P3-A6T8-01A-11D-A34J-08 TCGA-P3-A6T8-10A-01D-A34M-08 g.chrX:73811445T>G c.1705A>C c.(1705-1707)Acc>Ccc p.T569P HNSC 23 73811496 73811496 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chrX:73811496G>T c.1654C>A c.(1654-1656)Cag>Aag p.Q552K HNSC 23 73811508 73811508 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chrX:73811508G>C c.1642C>G c.(1642-1644)Ctc>Gtc p.L548V HNSC 23 73811532 73811532 + Missense_Mutation SNP C C T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chrX:73811532C>T c.1618G>A c.(1618-1620)Gat>Aat p.D540N HNSC 23 73811695 73811695 + Silent SNP A A G TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chrX:73811695A>G c.1455T>C c.(1453-1455)agT>agC p.S485S HNSC 23 73812474 73812474 + Missense_Mutation SNP C C T TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chrX:73812474C>T c.676G>A c.(676-678)Gaa>Aaa p.E226K HNSC 23 73812879 73812879 + Missense_Mutation SNP C C T TCGA-CV-7238-01A-11D-2012-08 TCGA-CV-7238-10A-01D-2013-08 g.chrX:73812879C>T c.271G>A c.(271-273)Gat>Aat p.D91N KICH 23 73811695 73811695 + Silent SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811695A>G c.1455T>C c.(1453-1455)agT>agC p.S485S KICH 23 73811737 73811737 + Silent SNP T T A TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chrX:73811737T>A c.1413A>T c.(1411-1413)tcA>tcT p.S471S KICH 23 73811739 73811739 + Missense_Mutation SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811739A>G c.1411T>C c.(1411-1413)Tca>Cca p.S471P KICH 23 73811755 73811755 + Silent SNP C C G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811755C>G c.1395G>C c.(1393-1395)tcG>tcC p.S465S KICH 23 73811761 73811761 + Silent SNP G G T TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811761G>T c.1389C>A c.(1387-1389)tcC>tcA p.S463S KIPAN 23 73811367 73811367 + Missense_Mutation SNP G G T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chrX:73811367G>T c.1783C>A c.(1783-1785)Cac>Aac p.H595N KIPAN 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L KIPAN 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L KIPAN 23 73811695 73811695 + Silent SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811695A>G c.1455T>C c.(1453-1455)agT>agC p.S485S KIPAN 23 73811737 73811737 + Silent SNP T T A TCGA-KO-8405-01A-11D-2310-10 TCGA-KO-8405-11A-01D-2311-10 g.chrX:73811737T>A c.1413A>T c.(1411-1413)tcA>tcT p.S471S KIPAN 23 73811739 73811739 + Missense_Mutation SNP A A G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811739A>G c.1411T>C c.(1411-1413)Tca>Cca p.S471P KIPAN 23 73811755 73811755 + Silent SNP C C G TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811755C>G c.1395G>C c.(1393-1395)tcG>tcC p.S465S KIPAN 23 73811761 73811761 + Silent SNP G G T TCGA-KN-8426-01A-11D-2310-10 TCGA-KN-8426-11A-01D-2311-10 g.chrX:73811761G>T c.1389C>A c.(1387-1389)tcC>tcA p.S463S KIPAN 23 73811938 73811938 + Silent SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T KIPAN 23 73812508 73812508 + Missense_Mutation SNP C C G TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chrX:73812508C>G c.642G>C c.(640-642)agG>agC p.R214S KIPAN 23 73812620 73812620 + Missense_Mutation SNP T T G TCGA-AK-3453-01A-01D-0966-08 TCGA-AK-3453-10A-01D-0966-08 g.chrX:73812620T>G c.530A>C c.(529-531)gAa>gCa p.E177A KIPAN 23 73815805 73815805 + Frame_Shift_Del DEL T T - TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chrX:73815805delT c.8delA c.(7-9)aacfs p.N3fs KIRC 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AK-3454-01A-02D-1361-10 TCGA-AK-3454-10A-01D-1361-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L KIRC 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L KIRC 23 73811938 73811938 + Silent SNP G G C TCGA-CJ-4869-01A-02D-1429-08 TCGA-CJ-4869-11A-01D-1429-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T KIRC 23 73812508 73812508 + Missense_Mutation SNP C C G TCGA-CZ-4865-01A-02D-1501-10 TCGA-CZ-4865-11A-01D-1501-10 g.chrX:73812508C>G c.642G>C c.(640-642)agG>agC p.R214S KIRC 23 73812620 73812620 + Missense_Mutation SNP T T G TCGA-AK-3453-01A-01D-0966-08 TCGA-AK-3453-10A-01D-0966-08 g.chrX:73812620T>G c.530A>C c.(529-531)gAa>gCa p.E177A KIRP 23 73811367 73811367 + Missense_Mutation SNP G G T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chrX:73811367G>T c.1783C>A c.(1783-1785)Cac>Aac p.H595N KIRP 23 73815805 73815805 + Frame_Shift_Del DEL T T - TCGA-A4-7996-01A-11D-2201-08 TCGA-A4-7996-10A-01D-2201-08 g.chrX:73815805delT c.8delA c.(7-9)aacfs p.N3fs LGG 23 73811938 73811938 + Silent SNP G G C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LGG 23 73811938 73811938 + Silent SNP G G C TCGA-FG-A70Z-01A-12D-A33T-08 TCGA-FG-A70Z-10A-01D-A33W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LGG 23 73811938 73811938 + Silent SNP G G C TCGA-HT-7478-01A-11D-2024-08 TCGA-HT-7478-10A-01D-2024-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LGG 23 73812199 73812200 + Frame_Shift_Ins INS - - G TCGA-HW-A5KL-01A-11D-A27K-08 TCGA-HW-A5KL-10A-01D-A27N-08 g.chrX:73812199_73812200insG c.950_951insC c.(949-951)ccafs p.P317fs LGG 23 73812349 73812349 + Silent SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chrX:73812349G>A c.801C>T c.(799-801)caC>caT p.H267H LGG 23 73815757 73815757 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chrX:73815757C>T c.56G>A c.(55-57)cGc>cAc p.R19H LIHC 23 73811891 73811891 + Missense_Mutation SNP A A T TCGA-CC-A123-01A-11D-A12Z-10 TCGA-CC-A123-10A-01D-A12Z-10 g.chrX:73811891A>T c.1259T>A c.(1258-1260)aTg>aAg p.M420K LIHC 23 73812012 73812012 + Missense_Mutation SNP T T A TCGA-DD-A73D-01A-12D-A32G-10 TCGA-DD-A73D-10A-01D-A32G-10 g.chrX:73812012T>A c.1138A>T c.(1138-1140)Agt>Tgt p.S380C LIHC 23 73812565 73812565 + Silent SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chrX:73812565T>A c.585A>T c.(583-585)tcA>tcT p.S195S LIHC 23 73812676 73812676 + Silent SNP T T C TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chrX:73812676T>C c.474A>G c.(472-474)ccA>ccG p.P158P LIHC 23 73814206 73814206 + Missense_Mutation SNP T T A TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chrX:73814206T>A c.188A>T c.(187-189)gAg>gTg p.E63V LUAD 23 73811407 73811407 + Missense_Mutation SNP G G T TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chrX:73811407G>T c.1743C>A c.(1741-1743)aaC>aaA p.N581K LUAD 23 73811606 73811606 + Missense_Mutation SNP C C T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chrX:73811606C>T c.1544G>A c.(1543-1545)aGg>aAg p.R515K LUAD 23 73811612 73811612 + Missense_Mutation SNP C C T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:73811612C>T c.1538G>A c.(1537-1539)cGa>cAa p.R513Q LUAD 23 73811802 73811802 + Missense_Mutation SNP C C A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chrX:73811802C>A c.1348G>T c.(1348-1350)Ggt>Tgt p.G450C LUAD 23 73811822 73811822 + Missense_Mutation SNP C C A TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chrX:73811822C>A c.1328G>T c.(1327-1329)cGg>cTg p.R443L LUAD 23 73811920 73811920 + Missense_Mutation SNP C C G TCGA-55-7574-01A-11D-2036-08 TCGA-55-7574-10A-01D-2036-08 g.chrX:73811920C>G c.1230G>C c.(1228-1230)atG>atC p.M410I LUAD 23 73811938 73811938 + Silent SNP G G C TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LUAD 23 73811943 73811943 + Missense_Mutation SNP G G T TCGA-78-7159-01A-11D-2036-08 TCGA-78-7159-10A-01D-2036-08 g.chrX:73811943G>T c.1207C>A c.(1207-1209)Cag>Aag p.Q403K LUAD 23 73812086 73812086 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chrX:73812086G>T c.1064C>A c.(1063-1065)aCc>aAc p.T355N LUAD 23 73812090 73812090 + Missense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chrX:73812090C>A c.1060G>T c.(1060-1062)Gtc>Ttc p.V354F LUAD 23 73812218 73812218 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chrX:73812218C>A c.932G>T c.(931-933)gGa>gTa p.G311V LUAD 23 73812447 73812447 + Missense_Mutation SNP T T C TCGA-44-7659-01A-11D-2063-08 TCGA-44-7659-10A-01D-2063-08 g.chrX:73812447T>C c.703A>G c.(703-705)Atg>Gtg p.M235V LUAD 23 73812469 73812469 + Missense_Mutation SNP T T A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chrX:73812469T>A c.681A>T c.(679-681)agA>agT p.R227S LUAD 23 73812542 73812542 + Missense_Mutation SNP G G A TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chrX:73812542G>A c.608C>T c.(607-609)cCa>cTa p.P203L LUAD 23 73812770 73812770 + Missense_Mutation SNP C C T TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chrX:73812770C>T c.380G>A c.(379-381)cGg>cAg p.R127Q LUAD 23 73815767 73815767 + Missense_Mutation SNP C C T TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chrX:73815767C>T c.46G>A c.(46-48)Gca>Aca p.A16T LUSC 23 73811707 73811707 + Silent SNP G G A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chrX:73811707G>A c.1443C>T c.(1441-1443)tcC>tcT p.S481S LUSC 23 73811938 73811938 + Silent SNP G G C TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LUSC 23 73811938 73811938 + Silent SNP G G C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T LUSC 23 73811973 73811973 + Missense_Mutation SNP C C A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chrX:73811973C>A c.1177G>T c.(1177-1179)Ggt>Tgt p.G393C LUSC 23 73812015 73812015 + Missense_Mutation SNP C C A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chrX:73812015C>A c.1135G>T c.(1135-1137)Gtc>Ttc p.V379F LUSC 23 73812546 73812546 + Missense_Mutation SNP C C A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 g.chrX:73812546C>A c.604G>T c.(604-606)Gtc>Ttc p.V202F LUSC 23 73812559 73812559 + Missense_Mutation SNP T T A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 g.chrX:73812559T>A c.591A>T c.(589-591)gaA>gaT p.E197D LUSC 23 73812708 73812708 + Missense_Mutation SNP C C G TCGA-66-2758-01A-02D-1522-08 TCGA-66-2758-11A-01D-1522-08 g.chrX:73812708C>G c.442G>C c.(442-444)Ggg>Cgg p.G148R OV 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-24-2035-01A-01W-0722-08 TCGA-24-2035-10A-01W-0722-08 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L OV 23 73812800 73812800 + Missense_Mutation SNP C C A TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chrX:73812800C>A c.350G>T c.(349-351)aGa>aTa p.R117I OV 23 73815786 73815786 + Silent SNP T T C TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chrX:73815786T>C c.27A>G c.(25-27)aaA>aaG p.K9K PAAD 23 73811695 73811695 + Silent SNP A A G TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-11A-11D-A36O-08 g.chrX:73811695A>G c.1455T>C c.(1453-1455)agT>agC p.S485S PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-2J-AABH-01A-21D-A40W-08 TCGA-2J-AABH-10A-01D-A40W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-3A-A9I7-01A-21D-A38G-08 TCGA-3A-A9I7-10A-01D-A38J-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-3A-A9IB-01A-21D-A397-08 TCGA-3A-A9IB-10A-01D-A39A-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-IB-8126-01A-11D-2396-08 TCGA-IB-8126-10A-01D-2396-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-IB-A5SO-01A-11D-A32N-08 TCGA-IB-A5SO-10A-01D-A32N-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PAAD 23 73811938 73811938 + Silent SNP G G C TCGA-US-A77G-01A-11D-A32N-08 TCGA-US-A77G-11A-11D-A32N-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T PRAD 23 73811348 73811348 + Missense_Mutation SNP A A G TCGA-KK-A7AW-01A-11D-A32B-08 TCGA-KK-A7AW-11A-11D-A329-08 g.chrX:73811348A>G c.1802T>C c.(1801-1803)tTa>tCa p.L601S PRAD 23 73811565 73811565 + Frame_Shift_Del DEL G G - TCGA-YJ-A8SW-01A-11D-A377-08 TCGA-YJ-A8SW-10A-01D-A37A-08 g.chrX:73811565delG c.1585delC c.(1585-1587)cttfs p.L529fs PRAD 23 73811938 73811938 + Silent SNP G G C TCGA-CH-5750-01A-11D-1576-08 TCGA-CH-5750-10A-01D-1576-08 g.chrX:73811938G>C c.1212C>G c.(1210-1212)acC>acG p.T404T READ 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L READ 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L READ 23 73811648 73811648 + Missense_Mutation SNP G G A TCGA-DY-A1DG-01A-11D-A152-10 TCGA-DY-A1DG-10A-01D-A152-10 g.chrX:73811648G>A c.1502C>T c.(1501-1503)tCa>tTa p.S501L READ 23 73811991 73811991 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:73811991G>A c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C SARC 23 73812194 73812194 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chrX:73812194A>T c.956T>A c.(955-957)aTa>aAa p.I319K SARC 23 73812544 73812544 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chrX:73812544G>A c.606C>T c.(604-606)gtC>gtT p.V202V SARC 23 73812716 73812716 + Missense_Mutation SNP C C A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 g.chrX:73812716C>A c.434G>T c.(433-435)cGt>cTt p.R145L SKCM 23 73811373 73811373 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chrX:73811373G>A c.1777C>T c.(1777-1779)Cat>Tat p.H593Y SKCM 23 73811621 73811621 + Missense_Mutation SNP C C T TCGA-EE-A2MF-06A-11D-A21A-08 TCGA-EE-A2MF-10B-01D-A21A-08 g.chrX:73811621C>T c.1529G>A c.(1528-1530)cGa>cAa p.R510Q SKCM 23 73811749 73811749 + Silent SNP G G C TCGA-GN-A26D-06A-11D-A19A-08 TCGA-GN-A26D-10A-01D-A19A-08 g.chrX:73811749G>C c.1401C>G c.(1399-1401)tcC>tcG p.S467S SKCM 23 73812410 73812410 + Missense_Mutation SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chrX:73812410G>A c.740C>T c.(739-741)tCa>tTa p.S247L SKCM 23 73812495 73812495 + Missense_Mutation SNP G G A TCGA-EE-A2GD-06A-11D-A196-08 TCGA-EE-A2GD-10A-01D-A198-08 g.chrX:73812495G>A c.655C>T c.(655-657)Cgg>Tgg p.R219W SKCM 23 73812706 73812706 + Silent SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chrX:73812706C>T c.444G>A c.(442-444)ggG>ggA p.G148G SKCM 23 73812727 73812727 + Silent SNP T T A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chrX:73812727T>A c.423A>T c.(421-423)atA>atT p.I141I SKCM 23 73814155 73814155 + Nonsense_Mutation SNP G G T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chrX:73814155G>T c.239C>A c.(238-240)tCa>tAa p.S80*

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 73811492 73811492 single base substitution A G missense_variant I553T 1658T>C BLCA-US X 73811938 73811938 single base substitution G C synonymous_variant T404T 1212C>G BLCA-US X 73812092 73812092 single base substitution G A missense_variant T353I 1058C>T BLCA-US X 73812256 73812256 single base substitution T C synonymous_variant A298A 894A>G BLCA-US X 73812835 73812835 single base substitution G A synonymous_variant V105V 315C>T BLCA-US X 73814150 73814150 single base substitution C T missense_variant E82K 244G>A BOCA-FR X 73805444 73805444 single base substitution A C 3_prime_UTR_variant BOCA-FR X 73805444 73805444 single base substitution A C downstream_gene_variant BOCA-FR X 73814378 73814378 single base substitution A C intron_variant BRCA-EU X 73801089 73801089 single base substitution A G downstream_gene_variant BRCA-EU X 73802580 73802580 single base substitution T A downstream_gene_variant BRCA-EU X 73802725 73802725 deletion of <=200bp T - downstream_gene_variant BRCA-EU X 73802725 73802725 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 73803507 73803507 single base substitution G A downstream_gene_variant BRCA-EU X 73803714 73803714 single base substitution C G downstream_gene_variant BRCA-EU X 73803916 73803916 insertion of <=200bp - T downstream_gene_variant BRCA-EU X 73804579 73804579 single base substitution T C downstream_gene_variant BRCA-EU X 73805883 73805883 single base substitution C T 3_prime_UTR_variant BRCA-EU X 73805883 73805883 single base substitution C T downstream_gene_variant BRCA-EU X 73806920 73806920 single base substitution C G 3_prime_UTR_variant BRCA-EU X 73806920 73806920 single base substitution C G downstream_gene_variant BRCA-EU X 73807062 73807062 single base substitution A C 3_prime_UTR_variant BRCA-EU X 73807062 73807062 single base substitution A C downstream_gene_variant BRCA-EU X 73808597 73808597 single base substitution G A 3_prime_UTR_variant BRCA-EU X 73808597 73808597 single base substitution G A downstream_gene_variant BRCA-EU X 73809293 73809293 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU X 73809293 73809293 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 73810074 73810074 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU X 73811006 73811006 single base substitution T C 3_prime_UTR_variant BRCA-EU X 73811399 73811399 single base substitution C T missense_variant R584H 1751G>A BRCA-EU X 73811535 73811535 single base substitution C T missense_variant E539K 1615G>A BRCA-EU X 73811658 73811658 single base substitution C T missense_variant E498K 1492G>A BRCA-EU X 73812369 73812369 single base substitution C T missense_variant G261R 781G>A BRCA-EU X 73812800 73812800 single base substitution C T missense_variant R117K 350G>A BRCA-EU X 73813705 73813705 insertion of <=200bp - GTTTGGCAGCATTC intron_variant BRCA-EU X 73815730 73815730 single base substitution C G missense_variant R28P 83G>C BRCA-EU X 73816115 73816115 single base substitution C G intron_variant BRCA-EU X 73816238 73816238 single base substitution G A intron_variant BRCA-EU X 73816297 73816297 single base substitution G A intron_variant BRCA-EU X 73816444 73816444 single base substitution C T intron_variant BRCA-EU X 73816636 73816636 single base substitution A G intron_variant BRCA-EU X 73817219 73817219 single base substitution G A intron_variant BRCA-EU X 73817689 73817689 single base substitution T C intron_variant BRCA-EU X 73818034 73818034 single base substitution T C intron_variant BRCA-EU X 73818139 73818139 single base substitution T C intron_variant BRCA-EU X 73819209 73819209 single base substitution C T intron_variant BRCA-EU X 73819949 73819949 insertion of <=200bp - G intron_variant BRCA-EU X 73820403 73820403 single base substitution A C intron_variant BRCA-EU X 73821122 73821122 single base substitution G T intron_variant BRCA-EU X 73821640 73821640 single base substitution T A intron_variant BRCA-EU X 73821643 73821643 single base substitution G A intron_variant BRCA-EU X 73821947 73821947 single base substitution C T intron_variant BRCA-EU X 73822405 73822405 deletion of <=200bp A - intron_variant BRCA-EU X 73822405 73822405 insertion of <=200bp - A intron_variant BRCA-EU X 73825918 73825918 single base substitution T C intron_variant BRCA-EU X 73826204 73826204 single base substitution A G intron_variant BRCA-EU X 73827589 73827589 single base substitution A C intron_variant BRCA-EU X 73828193 73828193 single base substitution C T intron_variant BRCA-EU X 73828235 73828235 deletion of <=200bp T - intron_variant BRCA-EU X 73828807 73828807 single base substitution C G intron_variant BRCA-EU X 73828954 73828954 single base substitution T A intron_variant BRCA-EU X 73830813 73830813 single base substitution C G intron_variant BRCA-EU X 73830888 73830888 single base substitution A G intron_variant BRCA-EU X 73830914 73830914 single base substitution G C intron_variant BRCA-EU X 73830929 73830929 single base substitution C T intron_variant BRCA-EU X 73831118 73831118 single base substitution C T intron_variant BRCA-EU X 73831343 73831343 single base substitution A C intron_variant BRCA-EU X 73831349 73831349 single base substitution C G intron_variant BRCA-EU X 73831809 73831809 single base substitution C A intron_variant BRCA-EU X 73832490 73832490 single base substitution A G intron_variant BRCA-EU X 73832954 73832954 deletion of <=200bp G - intron_variant BRCA-EU X 73833228 73833228 single base substitution A G intron_variant BRCA-EU X 73834743 73834743 single base substitution C A upstream_gene_variant BRCA-EU X 73836869 73836869 single base substitution C T upstream_gene_variant BRCA-EU X 73837754 73837754 single base substitution C G upstream_gene_variant BRCA-EU X 73838267 73838267 single base substitution G A upstream_gene_variant BRCA-EU X 73838286 73838286 single base substitution T A upstream_gene_variant BRCA-EU X 73838307 73838307 single base substitution G A upstream_gene_variant BRCA-EU X 73838326 73838326 single base substitution T A upstream_gene_variant BRCA-EU X 73839332 73839332 single base substitution C T upstream_gene_variant BRCA-EU X 73839377 73839377 single base substitution C T upstream_gene_variant BRCA-FR X 73803507 73803507 single base substitution G A downstream_gene_variant BRCA-FR X 73803714 73803714 single base substitution C G downstream_gene_variant BRCA-FR X 73807820 73807820 single base substitution C G 3_prime_UTR_variant BRCA-FR X 73807820 73807820 single base substitution C G downstream_gene_variant BRCA-FR X 73808597 73808597 single base substitution G A 3_prime_UTR_variant BRCA-FR X 73808597 73808597 single base substitution G A downstream_gene_variant BRCA-FR X 73815473 73815473 single base substitution C A intron_variant BRCA-FR X 73821353 73821353 single base substitution A C intron_variant BRCA-FR X 73830302 73830302 single base substitution C A intron_variant BRCA-FR X 73834743 73834743 single base substitution C A upstream_gene_variant BRCA-UK X 73802099 73802099 single base substitution C T downstream_gene_variant BRCA-UK X 73811379 73811379 single base substitution C T missense_variant E591K 1771G>A BRCA-UK X 73833228 73833228 single base substitution A G intron_variant BRCA-US X 73812045 73812045 single base substitution G A missense_variant R369C 1105C>T BRCA-US X 73812248 73812248 single base substitution G C stop_gained S301* 902C>G BRCA-US X 73812681 73812681 single base substitution C G missense_variant E157Q 469G>C BRCA-US X 73814166 73814166 single base substitution T C synonymous_variant P76P 228A>G BTCA-JP X 73811418 73811418 single base substitution T C missense_variant T578A 1732A>G BTCA-JP X 73812195 73812195 single base substitution T C missense_variant I319V 955A>G CESC-US X 73811719 73811719 single base substitution A C synonymous_variant P477P 1431T>G CESC-US X 73812025 73812025 single base substitution C G synonymous_variant V375V 1125G>C CESC-US X 73812278 73812278 single base substitution G T missense_variant T291K 872C>A CESC-US X 73812297 73812297 single base substitution G A missense_variant L285F 853C>T CLLE-ES X 73813216 73813216 single base substitution T C intron_variant CLLE-ES X 73820449 73820449 single base substitution G T intron_variant COAD-US X 73812056 73812056 single base substitution C T missense_variant R365H 1094G>A COAD-US X 73814190 73814190 single base substitution T C synonymous_variant L68L 204A>G COCA-CN X 73802869 73802869 single base substitution T A downstream_gene_variant COCA-CN X 73802892 73802892 single base substitution A C downstream_gene_variant COCA-CN X 73802912 73802912 single base substitution C T downstream_gene_variant COCA-CN X 73802941 73802941 single base substitution G A downstream_gene_variant COCA-CN X 73802947 73802947 single base substitution A G downstream_gene_variant COCA-CN X 73802997 73802997 single base substitution C T downstream_gene_variant COCA-CN X 73803029 73803029 single base substitution G A downstream_gene_variant COCA-CN X 73803042 73803042 single base substitution T C downstream_gene_variant COCA-CN X 73803057 73803057 single base substitution G C downstream_gene_variant COCA-CN X 73803191 73803191 single base substitution A G downstream_gene_variant COCA-CN X 73811695 73811695 single base substitution A G synonymous_variant S485S 1455T>C COCA-CN X 73811755 73811755 single base substitution C G synonymous_variant S465S 1395G>C COCA-CN X 73811761 73811761 single base substitution G T synonymous_variant S463S 1389C>A COCA-CN X 73813055 73813055 single base substitution T C intron_variant COCA-CN X 73814107 73814107 single base substitution G A intron_variant COCA-CN X 73815528 73815528 single base substitution C A intron_variant ESCA-CN X 73802692 73802692 single base substitution T C downstream_gene_variant GBM-US X 73811411 73811411 single base substitution C T missense_variant G580D 1739G>A GBM-US X 73811531 73811531 single base substitution T C missense_variant D540G 1619A>G KIRC-US X 73811648 73811648 single base substitution G A missense_variant S501L 1502C>T KIRC-US X 73812508 73812508 single base substitution C G missense_variant R214S 642G>C KIRP-US X 73811995 73811995 single base substitution G T synonymous_variant P385P 1155C>A KIRP-US X 73815805 73815805 deletion of <=200bp T - frameshift_variant N3 LAML-KR X 73811695 73811695 single base substitution A G synonymous_variant S485S 1455T>C LAML-KR X 73811737 73811737 single base substitution T A synonymous_variant S471S 1413A>T LAML-KR X 73811739 73811739 single base substitution A G missense_variant S471P 1411T>C LAML-KR X 73836520 73836520 single base substitution T C upstream_gene_variant LGG-US X 73811938 73811938 single base substitution G C synonymous_variant T404T 1212C>G LGG-US X 73812199 73812199 insertion of <=200bp - G frameshift_variant P317P? LGG-US X 73812349 73812349 single base substitution G A synonymous_variant H267H 801C>T LICA-CN X 73811739 73811739 single base substitution A G missense_variant S471P 1411T>C LICA-FR X 73802869 73802869 single base substitution T A downstream_gene_variant LICA-FR X 73811645 73811645 single base substitution G A missense_variant S502L 1505C>T LICA-FR X 73812374 73812374 single base substitution G A missense_variant T259M 776C>T LIHC-US X 73811891 73811891 single base substitution A T missense_variant M420K 1259T>A LIHC-US X 73812012 73812012 single base substitution T A missense_variant S380C 1138A>T LIHC-US X 73812528 73812528 deletion of <=200bp G - frameshift_variant Q208 LIHC-US X 73812565 73812565 single base substitution T A synonymous_variant S195S 585A>T LIHC-US X 73812676 73812676 single base substitution T C synonymous_variant P158P 474A>G LIHC-US X 73814206 73814206 single base substitution T A missense_variant E63V 188A>T LINC-JP X 73807554 73807554 single base substitution G A 3_prime_UTR_variant LINC-JP X 73807554 73807554 single base substitution G A downstream_gene_variant LINC-JP X 73807555 73807555 single base substitution C T 3_prime_UTR_variant LINC-JP X 73807555 73807555 single base substitution C T downstream_gene_variant LINC-JP X 73811242 73811242 single base substitution T C 3_prime_UTR_variant LINC-JP X 73812017 73812017 single base substitution T C missense_variant Y378C 1133A>G LIRI-JP X 73800179 73800179 single base substitution T G downstream_gene_variant LIRI-JP X 73800787 73800787 single base substitution A C downstream_gene_variant LIRI-JP X 73810442 73810442 single base substitution T C 3_prime_UTR_variant LIRI-JP X 73810663 73810663 single base substitution C T 3_prime_UTR_variant LIRI-JP X 73810760 73810760 single base substitution G T 3_prime_UTR_variant LIRI-JP X 73811010 73811010 single base substitution T C 3_prime_UTR_variant LIRI-JP X 73811695 73811695 single base substitution A G synonymous_variant S485S 1455T>C LIRI-JP X 73814060 73814060 single base substitution T A intron_variant LIRI-JP X 73814697 73814697 single base substitution G A intron_variant LIRI-JP X 73816429 73816429 single base substitution G C intron_variant LIRI-JP X 73820725 73820725 single base substitution C A intron_variant LIRI-JP X 73821473 73821473 single base substitution G A intron_variant LIRI-JP X 73821650 73821650 single base substitution T C intron_variant LIRI-JP X 73822978 73822978 single base substitution G C intron_variant LIRI-JP X 73824915 73824915 single base substitution A T intron_variant LIRI-JP X 73829525 73829525 single base substitution A G intron_variant LIRI-JP X 73831925 73831925 single base substitution T C intron_variant LIRI-JP X 73832077 73832077 single base substitution T C intron_variant LIRI-JP X 73832088 73832088 single base substitution T C intron_variant LIRI-JP X 73832629 73832629 single base substitution C A intron_variant LIRI-JP X 73836520 73836520 single base substitution T C upstream_gene_variant LIRI-JP X 73836838 73836838 single base substitution T C upstream_gene_variant LUSC-KR X 73801783 73801783 single base substitution C A downstream_gene_variant LUSC-KR X 73802883 73802883 single base substitution T C downstream_gene_variant LUSC-KR X 73802906 73802906 single base substitution G A downstream_gene_variant LUSC-KR X 73802987 73802987 single base substitution G A downstream_gene_variant LUSC-KR X 73806302 73806302 single base substitution A C 3_prime_UTR_variant LUSC-KR X 73806302 73806302 single base substitution A C downstream_gene_variant LUSC-KR X 73810945 73810945 single base substitution C G 3_prime_UTR_variant LUSC-KR X 73812790 73812790 single base substitution T C synonymous_variant Q120Q 360A>G LUSC-KR X 73820245 73820245 single base substitution G A intron_variant LUSC-KR X 73830497 73830497 single base substitution T A intron_variant LUSC-KR X 73832937 73832937 single base substitution C G intron_variant LUSC-KR X 73836685 73836685 single base substitution A G upstream_gene_variant LUSC-KR X 73837899 73837899 single base substitution C A upstream_gene_variant LUSC-KR X 73838020 73838020 single base substitution G C upstream_gene_variant LUSC-KR X 73838137 73838137 single base substitution G T upstream_gene_variant LUSC-US X 73811707 73811707 single base substitution G A synonymous_variant S481S 1443C>T LUSC-US X 73811938 73811938 single base substitution G C synonymous_variant T404T 1212C>G LUSC-US X 73811973 73811973 single base substitution C A missense_variant G393C 1177G>T LUSC-US X 73812015 73812015 single base substitution C A missense_variant V379F 1135G>T LUSC-US X 73812546 73812546 single base substitution C A missense_variant V202F 604G>T LUSC-US X 73812559 73812559 single base substitution T A missense_variant E197D 591A>T LUSC-US X 73812708 73812708 single base substitution C G missense_variant G148R 442G>C MALY-DE X 73802085 73802085 single base substitution G A downstream_gene_variant MALY-DE X 73802585 73802589 deletion of <=200bp AAAAC - downstream_gene_variant MALY-DE X 73802703 73802703 insertion of <=200bp - A downstream_gene_variant MALY-DE X 73803016 73803016 single base substitution C T downstream_gene_variant MALY-DE X 73803020 73803020 single base substitution G T downstream_gene_variant MALY-DE X 73803023 73803023 single base substitution T C downstream_gene_variant MALY-DE X 73803029 73803029 single base substitution G A downstream_gene_variant MALY-DE X 73803042 73803042 single base substitution T C downstream_gene_variant MALY-DE X 73803044 73803044 single base substitution A G downstream_gene_variant MALY-DE X 73803057 73803057 single base substitution G C downstream_gene_variant MALY-DE X 73804438 73804438 single base substitution G T downstream_gene_variant MALY-DE X 73810904 73810904 single base substitution C A 3_prime_UTR_variant MALY-DE X 73817098 73817098 single base substitution T C intron_variant MALY-DE X 73818324 73818324 insertion of <=200bp - T intron_variant MALY-DE X 73820094 73820094 single base substitution A C intron_variant MALY-DE X 73820270 73820270 single base substitution C G intron_variant MALY-DE X 73821223 73821223 single base substitution A T intron_variant MALY-DE X 73823444 73823444 single base substitution T C intron_variant MALY-DE X 73827013 73827013 single base substitution T A intron_variant MALY-DE X 73828764 73828764 single base substitution T C intron_variant MALY-DE X 73833231 73833231 insertion of <=200bp - A intron_variant MALY-DE X 73836543 73836543 single base substitution G A upstream_gene_variant MALY-DE X 73839227 73839227 single base substitution C T upstream_gene_variant MELA-AU X 73800583 73800583 single base substitution G A downstream_gene_variant MELA-AU X 73800824 73800824 single base substitution G A downstream_gene_variant MELA-AU X 73802880 73802880 single base substitution C T downstream_gene_variant MELA-AU X 73803795 73803795 single base substitution C T downstream_gene_variant MELA-AU X 73803966 73803966 single base substitution A C downstream_gene_variant MELA-AU X 73804396 73804396 single base substitution G A downstream_gene_variant MELA-AU X 73804806 73804806 single base substitution A T downstream_gene_variant MELA-AU X 73805802 73805802 single base substitution C A 3_prime_UTR_variant MELA-AU X 73805802 73805802 single base substitution C A downstream_gene_variant MELA-AU X 73806533 73806533 single base substitution G A 3_prime_UTR_variant MELA-AU X 73806533 73806533 single base substitution G A downstream_gene_variant MELA-AU X 73806630 73806630 single base substitution G A 3_prime_UTR_variant MELA-AU X 73806630 73806630 single base substitution G A downstream_gene_variant MELA-AU X 73806848 73806848 single base substitution G A 3_prime_UTR_variant MELA-AU X 73806848 73806848 single base substitution G A downstream_gene_variant MELA-AU X 73807112 73807112 single base substitution G A 3_prime_UTR_variant MELA-AU X 73807112 73807112 single base substitution G A downstream_gene_variant MELA-AU X 73807395 73807395 single base substitution G T 3_prime_UTR_variant MELA-AU X 73807395 73807395 single base substitution G T downstream_gene_variant MELA-AU X 73807560 73807560 single base substitution G A 3_prime_UTR_variant MELA-AU X 73807560 73807560 single base substitution G A downstream_gene_variant MELA-AU X 73807674 73807674 single base substitution G C 3_prime_UTR_variant MELA-AU X 73807674 73807674 single base substitution G C downstream_gene_variant MELA-AU X 73807785 73807785 single base substitution C T 3_prime_UTR_variant MELA-AU X 73807785 73807785 single base substitution C T downstream_gene_variant MELA-AU X 73808115 73808115 single base substitution G A 3_prime_UTR_variant MELA-AU X 73808115 73808115 single base substitution G A downstream_gene_variant MELA-AU X 73808800 73808800 single base substitution G A 3_prime_UTR_variant MELA-AU X 73808800 73808800 single base substitution G A downstream_gene_variant MELA-AU X 73809449 73809449 single base substitution C T 3_prime_UTR_variant MELA-AU X 73809449 73809449 single base substitution C T downstream_gene_variant MELA-AU X 73809658 73809658 single base substitution C T 3_prime_UTR_variant MELA-AU X 73809658 73809658 single base substitution C T downstream_gene_variant MELA-AU X 73809841 73809841 single base substitution C G 3_prime_UTR_variant MELA-AU X 73809841 73809841 single base substitution C G downstream_gene_variant MELA-AU X 73810059 73810059 single base substitution C T 3_prime_UTR_variant MELA-AU X 73810145 73810145 single base substitution C T 3_prime_UTR_variant MELA-AU X 73810476 73810476 single base substitution G A 3_prime_UTR_variant MELA-AU X 73810700 73810700 single base substitution T C 3_prime_UTR_variant MELA-AU X 73810845 73810845 single base substitution G A 3_prime_UTR_variant MELA-AU X 73810992 73810992 single base substitution G A 3_prime_UTR_variant MELA-AU X 73811559 73811559 single base substitution G A synonymous_variant L531L 1591C>T MELA-AU X 73811565 73811565 single base substitution G A missense_variant L529F 1585C>T MELA-AU X 73811621 73811621 single base substitution C T missense_variant R510Q 1529G>A MELA-AU X 73811720 73811720 single base substitution G A missense_variant P477L 1430C>T MELA-AU X 73812706 73812706 single base substitution C T synonymous_variant G148G 444G>A MELA-AU X 73814224 73814224 single base substitution C T missense_variant G57D 170G>A MELA-AU X 73814377 73814377 single base substitution G A intron_variant MELA-AU X 73814626 73814626 single base substitution T C intron_variant MELA-AU X 73814829 73814829 single base substitution G A intron_variant MELA-AU X 73814832 73814832 single base substitution G A intron_variant MELA-AU X 73815262 73815262 single base substitution A G intron_variant MELA-AU X 73815286 73815286 single base substitution A T intron_variant MELA-AU X 73815294 73815294 single base substitution G A intron_variant MELA-AU X 73815730 73815730 single base substitution C T missense_variant R28Q 83G>A MELA-AU X 73816098 73816098 single base substitution T C intron_variant MELA-AU X 73816310 73816310 single base substitution G A intron_variant MELA-AU X 73817728 73817728 single base substitution G A intron_variant MELA-AU X 73818290 73818290 single base substitution C T intron_variant MELA-AU X 73818395 73818395 single base substitution C T intron_variant MELA-AU X 73818410 73818410 single base substitution G A intron_variant MELA-AU X 73818715 73818715 single base substitution G A intron_variant MELA-AU X 73819304 73819304 single base substitution T C intron_variant MELA-AU X 73819640 73819640 single base substitution G A intron_variant MELA-AU X 73820902 73820902 single base substitution G A intron_variant MELA-AU X 73820993 73820993 single base substitution C T intron_variant MELA-AU X 73822548 73822548 single base substitution G A intron_variant MELA-AU X 73823180 73823180 single base substitution C T intron_variant MELA-AU X 73823222 73823222 single base substitution C T intron_variant MELA-AU X 73823681 73823681 single base substitution A T intron_variant MELA-AU X 73823711 73823711 single base substitution G A intron_variant MELA-AU X 73823991 73823991 single base substitution G A intron_variant MELA-AU X 73824422 73824423 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU X 73828342 73828342 single base substitution A G intron_variant MELA-AU X 73829769 73829769 single base substitution C A intron_variant MELA-AU X 73830317 73830317 single base substitution C T intron_variant MELA-AU X 73831326 73831326 single base substitution G A intron_variant MELA-AU X 73831438 73831438 single base substitution G A intron_variant MELA-AU X 73831448 73831448 single base substitution G A intron_variant MELA-AU X 73831810 73831810 single base substitution G A intron_variant MELA-AU X 73831923 73831923 single base substitution A G intron_variant MELA-AU X 73831975 73831975 single base substitution T G intron_variant MELA-AU X 73832072 73832072 single base substitution G A intron_variant MELA-AU X 73832519 73832519 single base substitution G A intron_variant MELA-AU X 73832762 73832762 single base substitution C G intron_variant MELA-AU X 73833699 73833699 single base substitution G A intron_variant MELA-AU X 73833859 73833859 single base substitution A G intron_variant MELA-AU X 73834461 73834461 single base substitution C T upstream_gene_variant MELA-AU X 73834565 73834565 single base substitution G A upstream_gene_variant MELA-AU X 73834570 73834571 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU X 73835848 73835848 single base substitution A G upstream_gene_variant MELA-AU X 73836239 73836239 single base substitution C T upstream_gene_variant MELA-AU X 73836423 73836423 single base substitution C T upstream_gene_variant MELA-AU X 73836464 73836464 single base substitution C T upstream_gene_variant MELA-AU X 73836718 73836718 single base substitution C T upstream_gene_variant MELA-AU X 73837143 73837143 single base substitution C T upstream_gene_variant MELA-AU X 73837382 73837382 single base substitution C T upstream_gene_variant MELA-AU X 73837458 73837458 single base substitution C T upstream_gene_variant MELA-AU X 73837461 73837461 single base substitution C T upstream_gene_variant MELA-AU X 73837694 73837694 single base substitution C T upstream_gene_variant MELA-AU X 73838004 73838004 single base substitution C T upstream_gene_variant MELA-AU X 73838019 73838019 single base substitution A G upstream_gene_variant MELA-AU X 73838097 73838097 single base substitution G A upstream_gene_variant MELA-AU X 73838118 73838118 single base substitution T C upstream_gene_variant MELA-AU X 73838307 73838307 single base substitution G A upstream_gene_variant MELA-AU X 73838341 73838341 single base substitution C T upstream_gene_variant MELA-AU X 73838503 73838503 single base substitution G A upstream_gene_variant MELA-AU X 73839238 73839238 single base substitution G A upstream_gene_variant MELA-AU X 73839334 73839334 single base substitution C T upstream_gene_variant ORCA-IN X 73807309 73807309 single base substitution T G 3_prime_UTR_variant ORCA-IN X 73807309 73807309 single base substitution T G downstream_gene_variant ORCA-IN X 73814213 73814213 single base substitution C G missense_variant E61Q 181G>C ORCA-IN X 73822146 73822146 single base substitution T A intron_variant OV-AU X 73801164 73801164 single base substitution A G downstream_gene_variant OV-AU X 73803005 73803005 single base substitution G A downstream_gene_variant OV-AU X 73810974 73810974 single base substitution T G 3_prime_UTR_variant OV-AU X 73811616 73811616 single base substitution C T missense_variant G512S 1534G>A OV-AU X 73816963 73816963 single base substitution A C intron_variant OV-AU X 73821652 73821652 single base substitution G A intron_variant OV-AU X 73822110 73822110 single base substitution T C intron_variant OV-AU X 73824379 73824379 single base substitution T C intron_variant OV-AU X 73824910 73824910 single base substitution A G intron_variant OV-AU X 73825891 73825891 single base substitution T C intron_variant OV-AU X 73827557 73827557 single base substitution A G intron_variant OV-AU X 73827854 73827854 single base substitution A C intron_variant OV-AU X 73831224 73831224 single base substitution C G intron_variant OV-AU X 73832392 73832392 single base substitution G T intron_variant PACA-AU X 73800180 73800180 single base substitution T A downstream_gene_variant PACA-AU X 73800181 73800181 single base substitution A G downstream_gene_variant PACA-AU X 73800554 73800554 single base substitution T A downstream_gene_variant PACA-AU X 73800754 73800754 single base substitution A T downstream_gene_variant PACA-AU X 73801077 73801077 single base substitution T C downstream_gene_variant PACA-AU X 73805599 73805599 single base substitution C G 3_prime_UTR_variant PACA-AU X 73805599 73805599 single base substitution C G downstream_gene_variant PACA-AU X 73806655 73806655 single base substitution G A 3_prime_UTR_variant PACA-AU X 73806655 73806655 single base substitution G A downstream_gene_variant PACA-AU X 73810446 73810446 single base substitution A C 3_prime_UTR_variant PACA-AU X 73812691 73812691 single base substitution C A missense_variant E153D 459G>T PACA-AU X 73817794 73817794 single base substitution G T intron_variant PACA-AU X 73827572 73827572 insertion of <=200bp - A intron_variant PACA-AU X 73827698 73827698 single base substitution T C intron_variant PACA-AU X 73837988 73837988 single base substitution A T upstream_gene_variant PACA-CA X 73801218 73801218 single base substitution G T downstream_gene_variant PACA-CA X 73803949 73803949 insertion of <=200bp - T downstream_gene_variant PACA-CA X 73806815 73806815 single base substitution G A 3_prime_UTR_variant PACA-CA X 73806815 73806815 single base substitution G A downstream_gene_variant PACA-CA X 73808992 73808992 single base substitution G A 3_prime_UTR_variant PACA-CA X 73808992 73808992 single base substitution G A downstream_gene_variant PACA-CA X 73810849 73810849 single base substitution T C 3_prime_UTR_variant PACA-CA X 73813817 73813817 single base substitution T C intron_variant PACA-CA X 73814692 73814692 single base substitution C T intron_variant PACA-CA X 73818805 73818805 single base substitution T G intron_variant PACA-CA X 73823891 73823891 single base substitution A G intron_variant PACA-CA X 73827280 73827280 single base substitution C A intron_variant PACA-CA X 73835893 73835893 single base substitution A G upstream_gene_variant PACA-CA X 73837292 73837292 single base substitution C T upstream_gene_variant PACA-CA X 73838892 73838892 single base substitution G A upstream_gene_variant PAEN-AU X 73805609 73805609 single base substitution T C 3_prime_UTR_variant PAEN-AU X 73805609 73805609 single base substitution T C downstream_gene_variant PAEN-AU X 73816449 73816449 single base substitution G A intron_variant PBCA-DE X 73802257 73802257 single base substitution T G downstream_gene_variant PBCA-DE X 73802703 73802703 insertion of <=200bp - A downstream_gene_variant PBCA-DE X 73802848 73802848 insertion of <=200bp - ATA downstream_gene_variant PBCA-DE X 73802997 73802997 single base substitution C T downstream_gene_variant PBCA-DE X 73803016 73803016 single base substitution C T downstream_gene_variant PBCA-DE X 73803020 73803020 single base substitution G T downstream_gene_variant PBCA-DE X 73803023 73803023 single base substitution T C downstream_gene_variant PBCA-DE X 73803029 73803029 single base substitution G A downstream_gene_variant PBCA-DE X 73803042 73803042 single base substitution T C downstream_gene_variant PBCA-DE X 73803191 73803191 single base substitution A G downstream_gene_variant PBCA-DE X 73806762 73806762 single base substitution C A 3_prime_UTR_variant PBCA-DE X 73806762 73806762 single base substitution C A downstream_gene_variant PBCA-DE X 73809022 73809025 deletion of <=200bp TCTC - 3_prime_UTR_variant PBCA-DE X 73809022 73809025 deletion of <=200bp TCTC - downstream_gene_variant PBCA-DE X 73809047 73809049 deletion of <=200bp ATT - 3_prime_UTR_variant PBCA-DE X 73809047 73809049 deletion of <=200bp ATT - downstream_gene_variant PBCA-DE X 73816912 73816912 single base substitution A C intron_variant PBCA-DE X 73821368 73821368 single base substitution G A intron_variant PBCA-DE X 73824401 73824401 single base substitution C G intron_variant PBCA-DE X 73831378 73831378 single base substitution G A intron_variant PBCA-DE X 73834128 73834128 single base substitution C T intron_variant PBCA-DE X 73836263 73836263 single base substitution T A upstream_gene_variant PBCA-DE X 73838081 73838081 single base substitution C G upstream_gene_variant PRAD-CA X 73812373 73812373 single base substitution C T synonymous_variant T259T 777G>A PRAD-CA X 73824592 73824592 single base substitution G C intron_variant PRAD-CA X 73829521 73829521 single base substitution G C intron_variant PRAD-CA X 73839012 73839012 single base substitution G A upstream_gene_variant PRAD-UK X 73811258 73811258 single base substitution G A 3_prime_UTR_variant PRAD-UK X 73811399 73811399 single base substitution C T missense_variant R584H 1751G>A PRAD-UK X 73811511 73811511 single base substitution C A stop_gained G547* 1639G>T PRAD-UK X 73825203 73825203 single base substitution A C intron_variant PRAD-UK X 73830360 73830360 single base substitution A G intron_variant PRAD-UK X 73834148 73834148 single base substitution T C intron_variant RECA-EU X 73801524 73801524 single base substitution A C downstream_gene_variant RECA-EU X 73802948 73802948 single base substitution C T downstream_gene_variant RECA-EU X 73805215 73805215 single base substitution C G 3_prime_UTR_variant RECA-EU X 73805215 73805215 single base substitution C G downstream_gene_variant RECA-EU X 73836527 73836527 single base substitution C T upstream_gene_variant SKCA-BR X 73802912 73802912 single base substitution C T downstream_gene_variant SKCA-BR X 73802941 73802941 single base substitution G A downstream_gene_variant SKCA-BR X 73802947 73802947 single base substitution A G downstream_gene_variant SKCA-BR X 73802967 73802967 single base substitution C A downstream_gene_variant SKCA-BR X 73802970 73802970 single base substitution T C downstream_gene_variant SKCA-BR X 73803023 73803023 single base substitution T C downstream_gene_variant SKCA-BR X 73803099 73803099 single base substitution C T downstream_gene_variant SKCA-BR X 73803100 73803100 single base substitution G A downstream_gene_variant SKCA-BR X 73803117 73803117 single base substitution T A downstream_gene_variant SKCA-BR X 73803129 73803129 single base substitution G A downstream_gene_variant SKCA-BR X 73803149 73803149 single base substitution A G downstream_gene_variant SKCA-BR X 73803162 73803162 single base substitution G C downstream_gene_variant SKCA-BR X 73803167 73803167 insertion of <=200bp - TGAG downstream_gene_variant SKCA-BR X 73803191 73803191 single base substitution A G downstream_gene_variant SKCA-BR X 73803222 73803222 single base substitution T C downstream_gene_variant SKCA-BR X 73803237 73803237 single base substitution C T downstream_gene_variant SKCA-BR X 73803315 73803315 single base substitution G A downstream_gene_variant SKCA-BR X 73803318 73803318 single base substitution C T downstream_gene_variant SKCA-BR X 73806661 73806661 single base substitution G C 3_prime_UTR_variant SKCA-BR X 73806661 73806661 single base substitution G C downstream_gene_variant SKCA-BR X 73813084 73813084 single base substitution G A intron_variant SKCA-BR X 73815952 73815952 single base substitution G A intron_variant SKCA-BR X 73817521 73817521 single base substitution C T intron_variant SKCA-BR X 73818568 73818568 single base substitution C T intron_variant SKCA-BR X 73826971 73826971 single base substitution T C intron_variant SKCA-BR X 73827261 73827261 single base substitution G A intron_variant SKCA-BR X 73828280 73828281 deletion of <=200bp AG - intron_variant SKCA-BR X 73831438 73831438 single base substitution G A intron_variant SKCA-BR X 73834913 73834913 single base substitution G A upstream_gene_variant SKCA-BR X 73835006 73835006 single base substitution G A upstream_gene_variant SKCA-BR X 73838137 73838137 single base substitution G T upstream_gene_variant SKCA-BR X 73838936 73838936 single base substitution C T upstream_gene_variant SKCM-US X 73811373 73811373 single base substitution G A missense_variant H593Y 1777C>T SKCM-US X 73811621 73811621 single base substitution C T missense_variant R510Q 1529G>A SKCM-US X 73811749 73811749 single base substitution G C synonymous_variant S467S 1401C>G SKCM-US X 73811938 73811938 single base substitution G C synonymous_variant T404T 1212C>G SKCM-US X 73812150 73812150 single base substitution G A missense_variant R334W 1000C>T SKCM-US X 73812410 73812410 single base substitution G A missense_variant S247L 740C>T SKCM-US X 73812495 73812495 single base substitution G A missense_variant R219W 655C>T SKCM-US X 73812706 73812706 single base substitution C T synonymous_variant G148G 444G>A SKCM-US X 73812727 73812727 single base substitution T A synonymous_variant I141I 423A>T SKCM-US X 73814155 73814155 single base substitution G T stop_gained S80* 239C>A STAD-US X 73811613 73811613 single base substitution G A stop_gained R513* 1537C>T STAD-US X 73811803 73811803 single base substitution A T synonymous_variant S449S 1347T>A STAD-US X 73812036 73812036 single base substitution G A missense_variant R372W 1114C>T STAD-US X 73812036 73812036 single base substitution G T synonymous_variant R372R 1114C>A STAD-US X 73812655 73812655 single base substitution T C synonymous_variant G165G 495A>G STAD-US X 73812787 73812787 single base substitution A G synonymous_variant S121S 363T>C STAD-US X 73815739 73815739 single base substitution C T missense_variant R25Q 74G>A THCA-US X 73811995 73811995 single base substitution G A synonymous_variant P385P 1155C>T UCEC-US X 73811327 73811327 single base substitution G T missense_variant P608H 1823C>A UCEC-US X 73811358 73811358 single base substitution C T missense_variant D598N 1792G>A UCEC-US X 73811556 73811556 single base substitution C T missense_variant A532T 1594G>A UCEC-US X 73811613 73811613 single base substitution G A stop_gained R513* 1537C>T UCEC-US X 73811737 73811737 single base substitution T C synonymous_variant S471S 1413A>G UCEC-US X 73811846 73811846 single base substitution C T missense_variant R435Q 1304G>A UCEC-US X 73811991 73811991 single base substitution G A missense_variant R387C 1159C>T UCEC-US X 73812118 73812118 single base substitution C T synonymous_variant R344R 1032G>A UCEC-US X 73812165 73812165 single base substitution G A missense_variant R329C 985C>T UCEC-US X 73812203 73812203 single base substitution G T missense_variant P316H 947C>A UCEC-US X 73812450 73812450 single base substitution G C missense_variant P234A 700C>G UCEC-US X 73812696 73812696 single base substitution A C missense_variant S152A 454T>G UCEC-US X 73812730 73812730 single base substitution C A missense_variant E140D 420G>T UCEC-US X 73812743 73812743 single base substitution C T missense_variant R136K 407G>A UCEC-US X 73812851 73812851 single base substitution T C missense_variant D100G 299A>G UCEC-US X 73815709 73815709 single base substitution A C missense_variant F35C 104T>G UCEC-US X 73815791 73815791 single base substitution C G missense_variant D8H 22G>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 1N55-VS-1T55 COSM4977127 c.649G>C p.D217H Substitution - Missense 23:74592666-74592666 - TCGA-A5-A0GP-01 COSM1125223 c.985C>T p.R329C Substitution - Missense 23:74592330-74592330 - TCGA-D1-A15X-01 COSM1125220 c.1413A>G p.S471S Substitution - coding silent 23:74591902-74591902 - TCGA-14-0787-01 COSM3406591 c.1739G>A p.G580D Substitution - Missense 23:74591576-74591576 - RH30SJ_ COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - 2000756 COSM1644952 c.304C>T p.L102F Substitution - Missense 23:74593011-74593011 - TCGA-GN-A26D-06 COSM3563365 c.1401C>G p.S467S Substitution - coding silent 23:74591914-74591914 - PAPNNX COSM4966396 c.777G>A p.T259T Substitution - coding silent 23:74592538-74592538 - PCSI_0083_Pa_P_526 COSM3786523 c.1303A>G p.M435V Substitution - Missense 15:49795550-49795550 + I2L-P23-Tumor-Organoid COSM4111038 c.1114C>T p.R372W Substitution - Missense 23:74592201-74592201 - YUSCA COSM5413077 c.1186G>A p.E396K Substitution - Missense 23:74592129-74592129 - 2492712 COSM5606984 c.463G>A p.E155K Substitution - Missense 23:74592852-74592852 - sysucc-826T COSM1636605 c.1455T>C p.S485S Substitution - coding silent 23:74591860-74591860 - CHC892T COSM4794301 c.1505C>T p.S502L Substitution - Missense 23:74591810-74591810 - YUOMEGA COSM5413076 c.1292C>T p.S431L Substitution - Missense 23:74592023-74592023 - TCGA-19-1790-01 COSM3406592 c.1619A>G p.D540G Substitution - Missense 23:74591696-74591696 - TCGA-34-5239-01 COSM757577 c.1177G>T p.G393C Substitution - Missense 23:74592138-74592138 - TCGA-24-2035-01 COSM72445 c.1502C>T p.S501L Substitution - Missense 23:74591813-74591813 - TCGA-EJ-5516-01 COSM72445 c.1502C>T p.S501L Substitution - Missense 23:74591813-74591813 - TCGA-B5-A11X-01 COSM1125231 c.22G>C p.D8H Substitution - Missense 23:74595956-74595956 - AOCS-168-1-8 COSM4136382 c.1534G>A p.G512S Substitution - Missense 23:74591781-74591781 - TCGA-AP-A0LM-01 COSM1125217 c.1594G>A p.A532T Substitution - Missense 23:74591721-74591721 - HCC63T COSM1626118 c.1133A>G p.Y378C Substitution - Missense 23:74592182-74592182 - TCGA-14-1455 COSM2155574 c.1395G>C p.S465S Substitution - coding silent 23:74591920-74591920 - PD9584a COSM5779426 c.1492G>A p.E498K Substitution - Missense 23:74591823-74591823 - sysucc-715T COSM5461393 c.28G>T p.G10* Substitution - Nonsense 15:49794271-49794271 + YUSCA COSM1125217 c.1594G>A p.A532T Substitution - Missense 23:74591721-74591721 - 2492711 COSM5606984 c.463G>A p.E155K Substitution - Missense 23:74592852-74592852 - TCGA-BT-A3PK-01 COSM3800749 c.1058C>T p.T353I Substitution - Missense 23:74592257-74592257 - TCGA-AC-A23H-01 COSM3845363 c.902C>G p.S301* Substitution - Nonsense 23:74592413-74592413 - 8066081 COSM3769603 c.585T>A p.T195T Substitution - coding silent 15:49794830-49794830 + 2881_T COSM3956707 c.1099C>A p.R367S Substitution - Missense 15:49795346-49795346 + TCGA-BC-A3KF-01 COSM4927770 c.188A>T p.E63V Substitution - Missense 23:74594371-74594371 - 2173_T COSM3956704 c.148A>C p.N50H Substitution - Missense 15:49794393-49794393 + 8057513 COSM3769603 c.585T>A p.T195T Substitution - coding silent 15:49794830-49794830 + OSCC-GB_00530111 COSM4883537 c.181G>C p.E61Q Substitution - Missense 23:74594378-74594378 - TCGA-AX-A0J0-01 COSM1125226 c.454T>G p.S152A Substitution - Missense 23:74592861-74592861 - TCGA-EB-A3Y7-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - 61 COSM5742334 c.602A>C p.E201A Substitution - Missense 23:74592713-74592713 - PD13623a COSM5799823 c.1615G>A p.E539K Substitution - Missense 23:74591700-74591700 - XHDG56C COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - Au9 COSM5607600 c.651C>T p.D217D Substitution - coding silent 23:74592664-74592664 - TCGA-EE-A2GD-06 COSM3563367 c.655C>T p.R219W Substitution - Missense 23:74592660-74592660 - HCC110T COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - SWE-53 COSM1180404 c.169G>T p.G57C Substitution - Missense 23:74595809-74595809 - 8057501 COSM3769603 c.585T>A p.T195T Substitution - coding silent 15:49794830-49794830 + TCGA-BS-A0UV-01 COSM1125216 c.1792G>A p.D598N Substitution - Missense 23:74591523-74591523 - TCGA-CC-A7IK-01 COSM4924869 c.474A>G p.P158P Substitution - coding silent 23:74592841-74592841 - tumor_4166706 COSM3927513 c.114C>T p.N38N Substitution - coding silent 15:49794357-49794357 + TCGA-BR-8680-01 COSM1125218 c.1537C>T p.R513* Substitution - Nonsense 23:74591778-74591778 - NCHP_DIPG108 COSM4746266 c.1093C>T p.R365C Substitution - Missense 23:74592222-74592222 - BK0023 COSM4186406 c.1444G>T p.G482C Substitution - Missense 23:74591871-74591871 - 2217238 COSM4169839 c.1226delT p.I409fs*2 Deletion - Frameshift 23:74592089-74592089 - 1255_T COSM3956705 c.165A>C p.P55P Substitution - coding silent 15:49794410-49794410 + CN-AML-CR-68-Dx COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - ESO-669 COSM1264313 c.784A>G p.S262G Substitution - Missense 23:74592531-74592531 - 3765_T COSM3956706 c.486T>C p.S162S Substitution - coding silent 15:49794731-49794731 + RK223_C01 COSM4779206 c.480A>C p.R160S Substitution - Missense 15:49794725-49794725 + S02277 COSM5701366 c.634_635insA p.R212fs*15 Insertion - Frameshift 23:74592680-74592681 - TCGA-B5-A11N-01 COSM1125225 c.700C>G p.P234A Substitution - Missense 23:74592615-74592615 - TCGA-D3-A3C7-06 COSM3563369 c.423A>T p.I141I Substitution - coding silent 23:74592892-74592892 - TCGA-43-6770-01 COSM757575 c.604G>T p.V202F Substitution - Missense 23:74592711-74592711 - 2492714 COSM5606984 c.463G>A p.E155K Substitution - Missense 23:74592852-74592852 - T3202 COSM4721860 c.593C>T p.A198V Substitution - Missense 23:74592722-74592722 - TCGA-BR-6452-01 COSM4111040 c.495A>G p.G165G Substitution - coding silent 23:74592820-74592820 - Pat_22_a COSM5878303 c.1082G>A p.G361E Substitution - Missense 23:74592233-74592233 - 2492713 COSM5606984 c.463G>A p.E155K Substitution - Missense 23:74592852-74592852 - TCGA-AX-A0J1-01 COSM1125222 c.1032G>A p.R344R Substitution - coding silent 23:74592283-74592283 - ESO-838 COSM1264314 c.67A>G p.M23V Substitution - Missense 23:74595911-74595911 - PD4127a COSM164028 c.1771G>A p.E591K Substitution - Missense 23:74591544-74591544 - CHC892T COSM4794301 c.1505C>T p.S502L Substitution - Missense 23:74591810-74591810 - TCGA-A6-6651-01 COSM1469342 c.1094G>A p.R365H Substitution - Missense 23:74592221-74592221 - TCGA-E2-A1BC-01 COSM458041 c.1105C>T p.R369C Substitution - Missense 23:74592210-74592210 - TCGA-CM-5861-01 COSM1469346 c.204A>G p.L68L Substitution - coding silent 23:74594355-74594355 - Case5c COSM1717312 c.521G>A p.R174K Substitution - Missense 23:74592794-74592794 - RMS106_ COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - Patient_1 COSM5414119 c.502G>A p.E168K Substitution - Missense 15:49794747-49794747 + HT115 COSM3096519 c.236A>G p.N79S Substitution - Missense 23:74594323-74594323 - TCGA-B5-A1MU-01 COSM1125219 c.1415G>T p.S472I Substitution - Missense 23:74591900-74591900 - ESO-0292 COSM292923 c.1160G>A p.R387H Substitution - Missense 23:74592155-74592155 - TCGA-D8-A1XK-01 COSM3845365 c.228A>G p.P76P Substitution - coding silent 23:74594331-74594331 - PD14457a COSM5799810 c.83G>C p.R28P Substitution - Missense 23:74595895-74595895 - U373 COSM1636605 c.1455T>C p.S485S Substitution - coding silent 23:74591860-74591860 - MAVER-1 COSM1741007 c.1190_1191delCT p.T397fs*18 Deletion - Frameshift 23:74592124-74592125 - SJHGG102_D COSM4969930 c.1337G>T p.R446I Substitution - Missense 23:74591978-74591978 - CHC892T COSM4795333 c.776C>T p.T259M Substitution - Missense 23:74592539-74592539 - U373 COSM3096511 c.1044G>A p.Q348Q Substitution - coding silent 23:74592271-74592271 - CHC892T COSM4795333 c.776C>T p.T259M Substitution - Missense 23:74592539-74592539 - BD40T COSM5509208 c.1667G>A p.W556* Substitution - Nonsense 15:49796024-49796024 + TCGA-EJ-5505-01 COSM72445 c.1502C>T p.S501L Substitution - Missense 23:74591813-74591813 - TCGA-EE-A29E-06 COSM3563364 c.1777C>T p.H593Y Substitution - Missense 23:74591538-74591538 - 0060_CRUK_PC_0060_T1_DNA COSM5420763 c.1639G>T p.G547* Substitution - Nonsense 23:74591676-74591676 - TCGA-22-4604-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-HQ-A2OE-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-HT-7478-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-HU-8602-01 COSM4111042 c.74G>A p.R25Q Substitution - Missense 23:74595904-74595904 - HCC63 COSM1626118 c.1133A>G p.Y378C Substitution - Missense 23:74592182-74592182 - 0024_CRUK_PC_0024_T1_DNA COSM5422544 c.1751G>A p.R584H Substitution - Missense 23:74591564-74591564 - sysucc-882T COSM2155574 c.1395G>C p.S465S Substitution - coding silent 23:74591920-74591920 - Pat_22_B COSM5878303 c.1082G>A p.G361E Substitution - Missense 23:74592233-74592233 - TCGA-GU-A42R-01 COSM3800750 c.894A>G p.A298A Substitution - coding silent 23:74592421-74592421 - S02344 COSM5693981 c.1353T>C p.G451G Substitution - coding silent 23:74591962-74591962 - TCGA-DK-A1AC-01 COSM1315693 c.315C>T p.V105V Substitution - coding silent 23:74593000-74593000 - EGC15 COSM3563370 c.239C>A p.S80* Substitution - Nonsense 23:74594320-74594320 - YUSCA COSM5413078 c.1004A>G p.Q335R Substitution - Missense 23:74592311-74592311 - TCGA-EE-A2MF-06 COSM4892547 c.1529G>A p.R510Q Substitution - Missense 23:74591786-74591786 - MO_1176 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-DK-A3IU-01 COSM3800751 c.244G>A p.E82K Substitution - Missense 23:74594315-74594315 - C0074T COSM4150968 c.1654T>A p.C552S Substitution - Missense 15:49796011-49796011 + TCGA-D1-A103-01 COSM1125228 c.407G>A p.R136K Substitution - Missense 23:74592908-74592908 - EWS502 COSM4589540 c.869G>T p.G290V Substitution - Missense 23:74592446-74592446 - I2L-P23-Tumor-Biopsy COSM4111038 c.1114C>T p.R372W Substitution - Missense 23:74592201-74592201 - TCGA-BS-A0UV-01 COSM1125218 c.1537C>T p.R513* Substitution - Nonsense 23:74591778-74591778 - sysucc-826T COSM2155573 c.1389C>A p.S463S Substitution - coding silent 23:74591926-74591926 - TCGA-14-1455 COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - MO_1241 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - T2769 COSM263360 c.1159C>T p.R387C Substitution - Missense 23:74592156-74592156 - TCGA-B5-A0JY-01 COSM1125227 c.420G>T p.E140D Substitution - Missense 23:74592895-74592895 - TCGA-DD-A73D-01 COSM4935278 c.1138A>T p.S380C Substitution - Missense 23:74592177-74592177 - TCGA-UB-A7MB-01 COSM4932433 c.585A>T p.S195S Substitution - coding silent 23:74592730-74592730 - CSCC-20-T COSM4565611 c.229_230CC>TT p.P77L Substitution - Missense 23:74594329-74594330 - TCGA-AP-A056-01 COSM1125230 c.104T>G p.F35C Substitution - Missense 23:74595874-74595874 - TCGA-14-1455 COSM2155573 c.1389C>A p.S463S Substitution - coding silent 23:74591926-74591926 - WA43-44 COSM241431 c.1424C>G p.S475C Substitution - Missense 23:74591891-74591891 - 7 COSM5732453 c.1204A>G p.I402V Substitution - Missense 23:74592111-74592111 - TCGA-MH-A55W-01 COSM3992585 c.1155C>A p.P385P Substitution - coding silent 23:74592160-74592160 - TCGA-B0-4817-01 COSM72445 c.1502C>T p.S501L Substitution - Missense 23:74591813-74591813 - TCGA-B5-A11E-01 COSM1125215 c.1823C>A p.P608H Substitution - Missense 23:74591492-74591492 - Au8 COSM5606984 c.463G>A p.E155K Substitution - Missense 23:74592852-74592852 - TCGA-AP-A0LM-01 COSM1125229 c.299A>G p.D100G Substitution - Missense 23:74593016-74593016 - LUAD-S01409 COSM388255 c.1580C>A p.P527H Substitution - Missense 23:74591735-74591735 - TCGA-DJ-A3UM-01 COSM3372332 c.1155C>T p.P385P Substitution - coding silent 23:74592160-74592160 - TCGA-EK-A2PL-01 COSM4838223 c.1125G>C p.V375V Substitution - coding silent 23:74592190-74592190 - TCGA-CD-5801-01 COSM4111041 c.363T>C p.S121S Substitution - coding silent 23:74592952-74592952 - TCGA-AA-3678-01 COSM292923 c.1160G>A p.R387H Substitution - Missense 23:74592155-74592155 - TCGA-18-4721-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-AP-A056-01 COSM1125221 c.1304G>A p.R435Q Substitution - Missense 23:74592011-74592011 - SNUH_G76_S1 COSM4417735 c.1392A>C p.S464S Substitution - coding silent 15:49795738-49795738 + CSCC-27-T COSM4493240 c.411C>T p.F137F Substitution - coding silent 23:74592904-74592904 - 8044436 COSM3390781 c.459G>T p.E153D Substitution - Missense 23:74592856-74592856 - LUAD-YKER9 COSM388683 c.1032G>T p.R344R Substitution - coding silent 23:74592283-74592283 - TCGA-DU-5851-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-33-4582-01 COSM757576 c.1135G>T p.V379F Substitution - Missense 23:74592180-74592180 - PR-04-3113 COSM247052 c.1829G>C p.C610S Substitution - Missense 23:74591486-74591486 - J90_T COSM3956708 c.1414C>A p.R472R Substitution - coding silent 15:49795760-49795760 + RK062_C01 COSM1636605 c.1455T>C p.S485S Substitution - coding silent 23:74591860-74591860 - SNUH_G76_S1 COSM4417553 c.724C>T p.H242Y Substitution - Missense 15:49794971-49794971 + TCGA-BR-8078-01 COSM4111037 c.1347T>A p.S449S Substitution - coding silent 23:74591968-74591968 - TCGA-D7-6528-01 COSM4111039 c.1114C>A p.R372R Substitution - coding silent 23:74592201-74592201 - TCGA-ER-A2NG-06 COSM3563366 c.740C>T p.S247L Substitution - Missense 23:74592575-74592575 - SWE-48 COSM1180178 c.260delA p.D87fs*12 Deletion - Frameshift 23:74593055-74593055 - TCGA-BR-8487-01 COSM4111038 c.1114C>T p.R372W Substitution - Missense 23:74592201-74592201 - SNUH_G76_S1 COSM4419730 c.1421C>A p.T474K Substitution - Missense 15:49795767-49795767 + TCGA-CZ-4865-01 COSM3364103 c.642G>C p.R214S Substitution - Missense 23:74592673-74592673 - TCGA-66-2757-01 COSM757574 c.591A>T p.E197D Substitution - Missense 23:74592724-74592724 - TCGA-14-1455 COSM2155576 c.1413A>T p.S471S Substitution - coding silent 23:74591902-74591902 - 41P2 COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - TCGA-EE-A2MK-06 COSM3563368 c.444G>A p.G148G Substitution - coding silent 23:74592871-74592871 - CPCG0117-F1 COSM4966396 c.777G>A p.T259T Substitution - coding silent 23:74592538-74592538 - TCGA-BG-A0M9-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - CN-AML-CR-68-Dx COSM1636605 c.1455T>C p.S485S Substitution - coding silent 23:74591860-74591860 - TCGA-66-2758-01 COSM757573 c.442G>C p.G148R Substitution - Missense 23:74592873-74592873 - SNUH_G76_S1 COSM4418141 c.1011A>G p.I337M Substitution - Missense 15:49795258-49795258 + ESO-913 COSM1264315 c.317G>T p.R106I Substitution - Missense 23:74592998-74592998 - HN_63058 COSM121755 c.723A>G p.R241R Substitution - coding silent 23:74592592-74592592 - TCGA-AK-3454-01 COSM72445 c.1502C>T p.S501L Substitution - Missense 23:74591813-74591813 - TCGA-AG-A002-01 COSM263360 c.1159C>T p.R387C Substitution - Missense 23:74592156-74592156 - TCGA-56-6545-01 COSM757578 c.1443C>T p.S481S Substitution - coding silent 23:74591872-74591872 - C086 COSM5538265 c.1457C>T p.S486L Substitution - Missense 23:74591858-74591858 - 41P3 COSM2155575 c.1411T>C p.S471P Substitution - Missense 23:74591904-74591904 - TCGA-29-1691-01 COSM1331690 c.27A>G p.K9K Substitution - coding silent 23:74595951-74595951 - TCGA-DB-A64X-01 COSM3973861 c.801C>T p.H267H Substitution - coding silent 23:74592514-74592514 - TCGA-D1-A17Q-01 COSM263360 c.1159C>T p.R387C Substitution - Missense 23:74592156-74592156 - 8014573 COSM3769603 c.585T>A p.T195T Substitution - coding silent 15:49794830-49794830 + TCGA-ER-A19T-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - 8035591 COSM3769604 c.1440G>A p.K480K Substitution - coding silent 15:49795791-49795791 + S02397 COSM5699536 c.98A>G p.Y33C Substitution - Missense 23:74595880-74595880 - TCGA-13-0904-01 COSM72446 c.350G>T p.R117I Substitution - Missense 23:74592965-74592965 - CN-AML-CR-68-Dx COSM2155576 c.1413A>T p.S471S Substitution - coding silent 23:74591902-74591902 - TCGA-AX-A0J1-01 COSM1125224 c.947C>A p.P316H Substitution - Missense 23:74592368-74592368 - sysucc-826T COSM2155574 c.1395G>C p.S465S Substitution - coding silent 23:74591920-74591920 - ccRCC-76 COSM1663932 c.1159C>G p.R387G Substitution - Missense 23:74592156-74592156 - J88_T COSM3965516 c.360A>G p.Q120Q Substitution - coding silent 23:74592955-74592955 - 4_PRE-TREATMENT COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-D9-A4Z3-01 COSM195939 c.1000C>T p.R334W Substitution - Missense 23:74592315-74592315 - TCGA-CJ-4869-01 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - TCGA-AO-A03M-01 COSM3845364 c.469G>C p.E157Q Substitution - Missense 23:74592846-74592846 - PD13416a COSM5422544 c.1751G>A p.R584H Substitution - Missense 23:74591564-74591564 - B52 COSM1756667 c.1658T>C p.I553T Substitution - Missense 23:74591657-74591657 - TCGA-CC-A123-01 COSM4915257 c.1259T>A p.M420K Substitution - Missense 23:74592056-74592056 - HCC38T COSM1608461 c.147T>A p.N49K Substitution - Missense 15:49794392-49794392 + BD232T COSM5501574 c.955A>G p.I319V Substitution - Missense 23:74592360-74592360 - LUAD-D02085 COSM363479 c.1212C>G p.T404T Substitution - coding silent 23:74592103-74592103 - B52-Tumor COSM1756667 c.1658T>C p.I553T Substitution - Missense 23:74591657-74591657 - TCGA-EE-A2MS-06 COSM3563370 c.239C>A p.S80* Substitution - Nonsense 23:74594320-74594320 - Pat_46_B COSM3800751 c.244G>A p.E82K Substitution - Missense 23:74594315-74594315 - 447 COSM4435182 c.1604delT p.F535fs*3 Deletion - Frameshift 23:74591711-74591711 - PDA_012 COSM4998564 c.1303C>T p.R435* Substitution - Nonsense 23:74592012-74592012 - 8066067 COSM3769603 c.585T>A p.T195T Substitution - coding silent 15:49794830-49794830 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.653288 Xq13-q21 300379

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.S121S c.363T>C X 73812787 STAD C A 3-UTRSNV . c.1872+4516G>T X 73806762 MB C A Missense p.G311V c.932G>T X 73812218 LUAD C A Missense p.G393C c.1177G>T X 73811973 LUSC C A Missense p.G450C c.1348G>T X 73811802 LUAD C A Missense p.R106I c.317G>T X 73812833 ESCA C A Missense p.R117I c.350G>T X 73812800 OV C A Missense p.R443L c.1328G>T X 73811822 LUAD C A Missense p.V202F c.604G>T X 73812546 LUSC C A Missense p.V354F c.1060G>T X 73812090 LUAD C A Missense p.V379F c.1135G>T X 73812015 LUSC C G Missense p.D8H c.22G>C X 73815791 UCEC C G Missense p.G148R c.442G>C X 73812708 LUSC C G Missense p.R214S c.642G>C X 73812508 RCCC C T Missense p.D540N c.1618G>A X 73811532 HNSC C T Missense p.D91N c.271G>A X 73812879 HNSC C T Missense p.E371K c.1111G>A X 73812039 ALL C T Missense p.E591K c.1771G>A X 73811379 BRCA C T Missense p.E82K c.244G>A X 73814150 BLCA C T Missense p.G580D c.1739G>A X 73811411 GBM C T Missense p.R387H c.1160G>A X 73811990 COREAD C T Missense p.R510Q c.1529G>A X 73811621 CM C T Missense p.R513Q c.1538G>A X 73811612 LUAD C T Synonymous p.G148G c.444G>A X 73812706 CM G A Missense p.P203L c.608C>T X 73812542 LUAD G A Missense p.R219W c.655C>T X 73812495 CM G A Missense p.R329C c.985C>T X 73812165 UCEC G A Missense p.R369C c.1105C>T X 73812045 BRCA G A Missense p.S247L c.740C>T X 73812410 CM G A Missense p.S501L c.1502C>T X 73811648 OV G A Missense p.S501L c.1502C>T X 73811648 RCCC G A Missense p.T353I c.1058C>T X 73812092 BLCA G A Missense p.T578I c.1733C>T X 73811417 HNSC G A Synonymous p.P385P c.1155C>T X 73811995 CM G A Synonymous p.P385P c.1155C>T X 73811995 THCA G A Synonymous p.S481S c.1443C>T X 73811707 LUSC G C Missense p.L548V c.1642C>G X 73811508 HNSC G C Synonymous p.S467S c.1401C>G X 73811749 CM G C Synonymous p.T404T c.1212C>G X 73811938 BLCA G C Synonymous p.T404T c.1212C>G X 73811938 CM G C Synonymous p.T404T c.1212C>G X 73811938 LUAD G C Synonymous p.T404T c.1212C>G X 73811938 LUSC G T 3-UTRSNV . c.1872+518C>A X 73810760 HC G T IntronicSNV . c.1-4637C>A X 73820449 CLL G T Missense p.Q175K c.523C>A X 73812627 LUAD G T Missense p.Q552K c.1654C>A X 73811496 HNSC G T Nonsense p.S80* c.239C>A X 73814155 CM G T Synonymous p.R372R c.1114C>A X 73812036 STAD T A Missense p.E197D c.591A>T X 73812559 LUSC T A Synonymous p.I141I c.423A>T X 73812727 CM T C 3-UTRSNV . c.1872+836A>G X 73810442 HC T C Missense p.D540G c.1619A>G X 73811531 GBM T C Missense p.M23V c.67A>G X 73815746 ESCA T C Missense p.S262G c.784A>G X 73812366 ESCA T C Synonymous p.R241R c.723A>G X 73812427 HNSC