Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 5 110428267 110428267 + Missense_Mutation SNP G G T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr5:110428267G>T c.281G>T c.(280-282)cGc>cTc p.R94L BLCA 5 110428003 110428003 + Missense_Mutation SNP G G T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr5:110428003G>T c.17G>T c.(16-18)gGc>gTc p.G6V BLCA 5 110428081 110428081 + Missense_Mutation SNP T T C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr5:110428081T>C c.95T>C c.(94-96)cTa>cCa p.L32P BLCA 5 110428132 110428132 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr5:110428132G>A c.146G>A c.(145-147)aGa>aAa p.R49K BLCA 5 110428137 110428137 + Missense_Mutation SNP G G C TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr5:110428137G>C c.151G>C c.(151-153)Gct>Cct p.A51P BLCA 5 110432806 110432806 + Missense_Mutation SNP A A G TCGA-2F-A9KQ-01A-11D-A38G-08 TCGA-2F-A9KQ-11A-11D-A38J-08 g.chr5:110432806A>G c.388A>G c.(388-390)Atg>Gtg p.M130V BLCA 5 110432815 110432815 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr5:110432815G>A c.397G>A c.(397-399)Gat>Aat p.D133N BLCA 5 110440423 110440423 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr5:110440423G>A c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K BLCA 5 110441021 110441021 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr5:110441021C>T c.1223C>T c.(1222-1224)tCc>tTc p.S408F BLCA 5 110445954 110445954 + Missense_Mutation SNP T T C TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr5:110445954T>C c.1561T>C c.(1561-1563)Tat>Cat p.Y521H BLCA 5 110445967 110445967 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr5:110445967C>T c.1574C>T c.(1573-1575)tCt>tTt p.S525F BLCA 5 110459882 110459882 + Missense_Mutation SNP A A T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr5:110459882A>T c.2513A>T c.(2512-2514)aAt>aTt p.N838I BLCA 5 110461420 110461420 + Missense_Mutation SNP A A C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr5:110461420A>C c.2633A>C c.(2632-2634)aAa>aCa p.K878T BLCA 5 110461459 110461459 + Missense_Mutation SNP A A G TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr5:110461459A>G c.2672A>G c.(2671-2673)gAg>gGg p.E891G BLCA 5 110462533 110462533 + Silent SNP C C T TCGA-FD-A3B3-01A-12D-A202-08 TCGA-FD-A3B3-10A-01D-A202-08 g.chr5:110462533C>T c.2808C>T c.(2806-2808)ttC>ttT p.F936F BRCA 5 110445999 110445999 + Missense_Mutation SNP C C G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr5:110445999C>G c.1606C>G c.(1606-1608)Caa>Gaa p.Q536E BRCA 5 110446555 110446555 + Nonsense_Mutation SNP G G T TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr5:110446555G>T c.1678G>T c.(1678-1680)Gaa>Taa p.E560* BRCA 5 110454814 110454814 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr5:110454814C>G c.2068C>G c.(2068-2070)Cta>Gta p.L690V BRCA 5 110462515 110462515 + Silent SNP C C A TCGA-A8-A086-01A-11W-A019-09 TCGA-A8-A086-10A-01W-A021-09 g.chr5:110462515C>A c.2790C>A c.(2788-2790)acC>acA p.T930T CESC 5 110428117 110428117 + Nonsense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr5:110428117C>G c.131C>G c.(130-132)tCa>tGa p.S44* CESC 5 110428130 110428130 + Silent SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr5:110428130G>A c.144G>A c.(142-144)ctG>ctA p.L48L CESC 5 110440408 110440408 + Missense_Mutation SNP G G C TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr5:110440408G>C c.1087G>C c.(1087-1089)Gat>Cat p.D363H CESC 5 110442995 110442995 + Missense_Mutation SNP G G A TCGA-EK-A2RA-01A-11D-A18J-09 TCGA-EK-A2RA-10A-01D-A18J-09 g.chr5:110442995G>A c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K COAD 5 110428028 110428028 + Missense_Mutation SNP G G T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr5:110428028G>T c.42G>T c.(40-42)caG>caT p.Q14H COAD 5 110428069 110428069 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:110428069G>T c.83G>T c.(82-84)aGg>aTg p.R28M COAD 5 110428109 110428109 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:110428109T>C c.123T>C c.(121-123)tgT>tgC p.C41C COAD 5 110428248 110428248 + Silent SNP C C A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr5:110428248C>A c.262C>A c.(262-264)Cgg>Agg p.R88R COAD 5 110434447 110434447 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:110434447G>A c.487G>A c.(487-489)Gca>Aca p.A163T COAD 5 110439530 110439530 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:110439530G>T c.811G>T c.(811-813)Gtt>Ttt p.V271F COAD 5 110439606 110439606 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:110439606C>A c.887C>A c.(886-888)tCa>tAa p.S296* COAD 5 110439611 110439611 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:110439611C>T c.892C>T c.(892-894)Cgc>Tgc p.R298C COAD 5 110443075 110443075 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:110443075A>C c.1431A>C c.(1429-1431)aaA>aaC p.K477N COAD 5 110446634 110446634 + Missense_Mutation SNP T T C TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr5:110446634T>C c.1757T>C c.(1756-1758)aTg>aCg p.M586T COAD 5 110446635 110446635 + Missense_Mutation SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr5:110446635G>A c.1758G>A c.(1756-1758)atG>atA p.M586I COAD 5 110448773 110448773 + Splice_Site SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr5:110448773G>A c.1885G>A c.(1885-1887)Gct>Act p.A629T COAD 5 110448831 110448831 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:110448831C>A c.1943C>A c.(1942-1944)aCt>aAt p.T648N COAD 5 110454715 110454715 + Missense_Mutation SNP A A T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:110454715A>T c.1969A>T c.(1969-1971)Ata>Tta p.I657L COAD 5 110454738 110454738 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:110454738G>A c.1992G>A c.(1990-1992)tcG>tcA p.S664S COAD 5 110459833 110459833 + Missense_Mutation SNP G G C TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr5:110459833G>C c.2464G>C c.(2464-2466)Gct>Cct p.A822P COAD 5 110461309 110461309 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:110461309A>G c.2522A>G c.(2521-2523)gAc>gGc p.D841G COAD 5 110462474 110462474 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:110462474G>T c.2749G>T c.(2749-2751)Gaa>Taa p.E917* COADREAD 5 110428028 110428028 + Missense_Mutation SNP G G T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr5:110428028G>T c.42G>T c.(40-42)caG>caT p.Q14H COADREAD 5 110428046 110428046 + Silent SNP G G T TCGA-AG-3909-01A-01W-1073-09 TCGA-AG-3909-10A-01W-1073-09 g.chr5:110428046G>T c.60G>T c.(58-60)gtG>gtT p.V20V COADREAD 5 110428069 110428069 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:110428069G>T c.83G>T c.(82-84)aGg>aTg p.R28M COADREAD 5 110428109 110428109 + Silent SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:110428109T>C c.123T>C c.(121-123)tgT>tgC p.C41C COADREAD 5 110428248 110428248 + Silent SNP C C A TCGA-AA-3693-01A-01W-0900-09 TCGA-AA-3693-10A-01W-0900-09 g.chr5:110428248C>A c.262C>A c.(262-264)Cgg>Agg p.R88R COADREAD 5 110434447 110434447 + Missense_Mutation SNP G G A TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr5:110434447G>A c.487G>A c.(487-489)Gca>Aca p.A163T COADREAD 5 110439530 110439530 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:110439530G>T c.811G>T c.(811-813)Gtt>Ttt p.V271F COADREAD 5 110439606 110439606 + Nonsense_Mutation SNP C C A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:110439606C>A c.887C>A c.(886-888)tCa>tAa p.S296* COADREAD 5 110439611 110439611 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:110439611C>T c.892C>T c.(892-894)Cgc>Tgc p.R298C COADREAD 5 110440033 110440033 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr5:110440033C>T c.1056C>T c.(1054-1056)ggC>ggT p.G352G COADREAD 5 110443075 110443075 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:110443075A>C c.1431A>C c.(1429-1431)aaA>aaC p.K477N COADREAD 5 110446634 110446634 + Missense_Mutation SNP T T C TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr5:110446634T>C c.1757T>C c.(1756-1758)aTg>aCg p.M586T COADREAD 5 110446635 110446635 + Missense_Mutation SNP G G A TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr5:110446635G>A c.1758G>A c.(1756-1758)atG>atA p.M586I COADREAD 5 110448773 110448773 + Splice_Site SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr5:110448773G>A c.1885G>A c.(1885-1887)Gct>Act p.A629T COADREAD 5 110448831 110448831 + Missense_Mutation SNP C C A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr5:110448831C>A c.1943C>A c.(1942-1944)aCt>aAt p.T648N COADREAD 5 110454715 110454715 + Missense_Mutation SNP A A T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:110454715A>T c.1969A>T c.(1969-1971)Ata>Tta p.I657L COADREAD 5 110454738 110454738 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:110454738G>A c.1992G>A c.(1990-1992)tcG>tcA p.S664S COADREAD 5 110459833 110459833 + Missense_Mutation SNP G G C TCGA-AA-3982-01A-02W-0995-10 TCGA-AA-3982-10A-01W-0999-10 g.chr5:110459833G>C c.2464G>C c.(2464-2466)Gct>Cct p.A822P COADREAD 5 110461309 110461309 + Missense_Mutation SNP A A G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:110461309A>G c.2522A>G c.(2521-2523)gAc>gGc p.D841G COADREAD 5 110462474 110462474 + Nonsense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:110462474G>T c.2749G>T c.(2749-2751)Gaa>Taa p.E917* DLBC 5 110428002 110428002 + Missense_Mutation SNP G G T TCGA-VB-A8QN-01A-11D-A382-10 TCGA-VB-A8QN-10A-01D-A385-10 g.chr5:110428002G>T c.16G>T c.(16-18)Ggc>Tgc p.G6C DLBC 5 110432841 110432841 + Silent SNP T T C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:110432841T>C c.423T>C c.(421-423)taT>taC p.Y141Y ESCA 5 110427994 110427994 + Missense_Mutation SNP G G A TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr5:110427994G>A c.8G>A c.(7-9)tGc>tAc p.C3Y ESCA 5 110428069 110428069 + Missense_Mutation SNP G G T TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr5:110428069G>T c.83G>T c.(82-84)aGg>aTg p.R28M ESCA 5 110428207 110428207 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr5:110428207G>T c.221G>T c.(220-222)cGg>cTg p.R74L ESCA 5 110434486 110434486 + Missense_Mutation SNP A A G TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 g.chr5:110434486A>G c.526A>G c.(526-528)Atc>Gtc p.I176V ESCA 5 110459844 110459844 + Silent SNP A A C TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr5:110459844A>C c.2475A>C c.(2473-2475)tcA>tcC p.S825S ESCA 5 110461440 110461440 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr5:110461440G>T c.2653G>T c.(2653-2655)Gac>Tac p.D885Y GBM 5 110461398 110461398 + Missense_Mutation SNP G G C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr5:110461398G>C c.2611G>C c.(2611-2613)Gaa>Caa p.E871Q GBMLGG 5 110428061 110428061 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110428061C>T c.75C>T c.(73-75)ctC>ctT p.L25L GBMLGG 5 110441018 110441018 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110441018T>G c.1220T>G c.(1219-1221)tTt>tGt p.F407C GBMLGG 5 110448783 110448783 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110448783C>A c.1895C>A c.(1894-1896)cCt>cAt p.P632H GBMLGG 5 110461365 110461365 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110461365C>T c.2578C>T c.(2578-2580)Cga>Tga p.R860* GBMLGG 5 110461398 110461398 + Missense_Mutation SNP G G C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr5:110461398G>C c.2611G>C c.(2611-2613)Gaa>Caa p.E871Q HNSC 5 110448824 110448824 + Missense_Mutation SNP A A G TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr5:110448824A>G c.1936A>G c.(1936-1938)Att>Gtt p.I646V KIPAN 5 110428209 110428209 + Missense_Mutation SNP G G T TCGA-B0-5707-01A-11D-1534-10 TCGA-B0-5707-11A-01D-1534-10 g.chr5:110428209G>T c.223G>T c.(223-225)Gcc>Tcc p.A75S KIPAN 5 110428228 110428228 + Missense_Mutation SNP A A T TCGA-A3-3311-01A-01D-0966-08 TCGA-A3-3311-11A-01D-0966-08 g.chr5:110428228A>T c.242A>T c.(241-243)aAc>aTc p.N81I KIPAN 5 110434508 110434508 + Missense_Mutation SNP T T G TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr5:110434508T>G c.548T>G c.(547-549)aTt>aGt p.I183S KIPAN 5 110448824 110448824 + Missense_Mutation SNP A A T TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr5:110448824A>T c.1936A>T c.(1936-1938)Att>Ttt p.I646F KIRC 5 110428209 110428209 + Missense_Mutation SNP G G T TCGA-B0-5707-01A-11D-1534-10 TCGA-B0-5707-11A-01D-1534-10 g.chr5:110428209G>T c.223G>T c.(223-225)Gcc>Tcc p.A75S KIRC 5 110428228 110428228 + Missense_Mutation SNP A A T TCGA-A3-3311-01A-01D-0966-08 TCGA-A3-3311-11A-01D-0966-08 g.chr5:110428228A>T c.242A>T c.(241-243)aAc>aTc p.N81I KIRC 5 110434508 110434508 + Missense_Mutation SNP T T G TCGA-BP-5198-01A-01D-1429-08 TCGA-BP-5198-11A-01D-1429-08 g.chr5:110434508T>G c.548T>G c.(547-549)aTt>aGt p.I183S KIRP 5 110448824 110448824 + Missense_Mutation SNP A A T TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr5:110448824A>T c.1936A>T c.(1936-1938)Att>Ttt p.I646F LGG 5 110428061 110428061 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110428061C>T c.75C>T c.(73-75)ctC>ctT p.L25L LGG 5 110441018 110441018 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110441018T>G c.1220T>G c.(1219-1221)tTt>tGt p.F407C LGG 5 110448783 110448783 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110448783C>A c.1895C>A c.(1894-1896)cCt>cAt p.P632H LGG 5 110461365 110461365 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:110461365C>T c.2578C>T c.(2578-2580)Cga>Tga p.R860* LIHC 5 110430616 110430616 + Splice_Site SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr5:110430616A>T c.e2-1 LIHC 5 110432780 110432780 + Missense_Mutation SNP A A G TCGA-DD-AAEG-01A-11D-A38X-10 TCGA-DD-AAEG-10A-01D-A38X-10 g.chr5:110432780A>G c.362A>G c.(361-363)aAt>aGt p.N121S LIHC 5 110443041 110443041 + Missense_Mutation SNP G G C TCGA-ZS-A9CG-01A-11D-A36X-10 TCGA-ZS-A9CG-10A-01D-A370-10 g.chr5:110443041G>C c.1397G>C c.(1396-1398)gGt>gCt p.G466A LIHC 5 110445911 110445911 + Frame_Shift_Del DEL A A - TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr5:110445911delA c.1518delA c.(1516-1518)ggafs p.G506fs LIHC 5 110445992 110445992 + Silent SNP C C T TCGA-DD-AAD2-01A-11D-A40R-10 TCGA-DD-AAD2-10A-01D-A40U-10 g.chr5:110445992C>T c.1599C>T c.(1597-1599)ggC>ggT p.G533G LIHC 5 110456277 110456277 + Missense_Mutation SNP C C A TCGA-FV-A3I1-01A-11D-A22F-10 TCGA-FV-A3I1-10A-01D-A22F-10 g.chr5:110456277C>A c.2156C>A c.(2155-2157)aCt>aAt p.T719N LIHC 5 110456746 110456746 + Silent SNP T T C TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr5:110456746T>C c.2223T>C c.(2221-2223)taT>taC p.Y741Y LIHC 5 110462533 110462533 + Missense_Mutation SNP C C A TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr5:110462533C>A c.2808C>A c.(2806-2808)ttC>ttA p.F936L LUAD 5 110428002 110428002 + Missense_Mutation SNP G G T TCGA-MP-A4TE-01A-22D-A25L-08 TCGA-MP-A4TE-10A-01D-A25L-08 g.chr5:110428002G>T c.16G>T c.(16-18)Ggc>Tgc p.G6C LUAD 5 110428032 110428032 + Missense_Mutation SNP G G T TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr5:110428032G>T c.46G>T c.(46-48)Gcg>Tcg p.A16S LUAD 5 110428061 110428061 + Silent SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr5:110428061C>G c.75C>G c.(73-75)ctC>ctG p.L25L LUAD 5 110428091 110428091 + Silent SNP G G A TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr5:110428091G>A c.105G>A c.(103-105)ctG>ctA p.L35L LUAD 5 110430633 110430633 + Missense_Mutation SNP C C G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr5:110430633C>G c.346C>G c.(346-348)Ctg>Gtg p.L116V LUAD 5 110438058 110438058 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr5:110438058C>G c.725C>G c.(724-726)aCa>aGa p.T242R LUAD 5 110440497 110440497 + Silent SNP A A T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr5:110440497A>T c.1176A>T c.(1174-1176)ggA>ggT p.G392G LUAD 5 110441783 110441783 + Missense_Mutation SNP G G A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr5:110441783G>A c.1289G>A c.(1288-1290)cGt>cAt p.R430H LUAD 5 110446486 110446486 + Splice_Site SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr5:110446486G>T c.e14-1 LUAD 5 110446893 110446893 + Missense_Mutation SNP T T A TCGA-69-7973-01A-11D-2184-08 TCGA-69-7973-10A-01D-2184-08 g.chr5:110446893T>A c.1800T>A c.(1798-1800)gaT>gaA p.D600E LUAD 5 110448812 110448812 + Missense_Mutation SNP A A G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr5:110448812A>G c.1924A>G c.(1924-1926)Atg>Gtg p.M642V LUAD 5 110454803 110454803 + Missense_Mutation SNP T T A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chr5:110454803T>A c.2057T>A c.(2056-2058)cTt>cAt p.L686H LUAD 5 110456699 110456699 + Missense_Mutation SNP G G C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr5:110456699G>C c.2176G>C c.(2176-2178)Gaa>Caa p.E726Q LUAD 5 110459809 110459809 + Missense_Mutation SNP A A G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr5:110459809A>G c.2440A>G c.(2440-2442)Aaa>Gaa p.K814E LUAD 5 110462460 110462460 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr5:110462460C>T c.2735C>T c.(2734-2736)cCa>cTa p.P912L LUSC 5 110428113 110428113 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:110428113C>T c.127C>T c.(127-129)Cct>Tct p.P43S LUSC 5 110439942 110439942 + Missense_Mutation SNP A A G TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr5:110439942A>G c.965A>G c.(964-966)aAa>aGa p.K322R LUSC 5 110443093 110443093 + Nonsense_Mutation SNP C C G TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr5:110443093C>G c.1449C>G c.(1447-1449)taC>taG p.Y483* LUSC 5 110461440 110461440 + Missense_Mutation SNP G G A TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr5:110461440G>A c.2653G>A c.(2653-2655)Gac>Aac p.D885N OV 5 110446633 110446633 + Missense_Mutation SNP A A G TCGA-04-1342-01A-01W-0486-08 TCGA-04-1342-11A-01W-0487-08 g.chr5:110446633A>G c.1756A>G c.(1756-1758)Atg>Gtg p.M586V PAAD 5 110428198 110428198 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 g.chr5:110428198C>T c.212C>T c.(211-213)gCg>gTg p.A71V PAAD 5 110459563 110459563 + Missense_Mutation SNP A A G TCGA-2J-AAB9-01A-11D-A40W-08 TCGA-2J-AAB9-10A-01D-A40W-08 g.chr5:110459563A>G c.2377A>G c.(2377-2379)Aca>Gca p.T793A PRAD 5 110434431 110434431 + Silent SNP C C A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:110434431C>A c.471C>A c.(469-471)acC>acA p.T157T PRAD 5 110439987 110439987 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:110439987C>T c.1010C>T c.(1009-1011)gCc>gTc p.A337V PRAD 5 110446962 110446962 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:110446962C>T c.1869C>T c.(1867-1869)ggC>ggT p.G623G READ 5 110428046 110428046 + Silent SNP G G T TCGA-AG-3909-01A-01W-1073-09 TCGA-AG-3909-10A-01W-1073-09 g.chr5:110428046G>T c.60G>T c.(58-60)gtG>gtT p.V20V READ 5 110440033 110440033 + Silent SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr5:110440033C>T c.1056C>T c.(1054-1056)ggC>ggT p.G352G SARC 5 110438084 110438084 + Missense_Mutation SNP A A G TCGA-K1-A6RV-01A-11D-A32I-09 TCGA-K1-A6RV-10A-01D-A32I-09 g.chr5:110438084A>G c.751A>G c.(751-753)Aca>Gca p.T251A SARC 5 110439579 110439579 + Missense_Mutation SNP A A C TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr5:110439579A>C c.860A>C c.(859-861)cAa>cCa p.Q287P SARC 5 110439580 110439580 + Missense_Mutation SNP A A T TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr5:110439580A>T c.861A>T c.(859-861)caA>caT p.Q287H SARC 5 110448791 110448791 + Missense_Mutation SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr5:110448791C>T c.1903C>T c.(1903-1905)Cgt>Tgt p.R635C SKCM 5 110428012 110428012 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr5:110428012G>A c.26G>A c.(25-27)cGg>cAg p.R9Q SKCM 5 110428013 110428013 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr5:110428013G>A c.27G>A c.(25-27)cgG>cgA p.R9R SKCM 5 110428092 110428092 + Missense_Mutation SNP A A G TCGA-ER-A19S-06A-11D-A196-08 TCGA-ER-A19S-10A-01D-A198-08 g.chr5:110428092A>G c.106A>G c.(106-108)Aag>Gag p.K36E SKCM 5 110436354 110436354 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:110436354C>T c.644C>T c.(643-645)aCc>aTc p.T215I SKCM 5 110439611 110439611 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr5:110439611C>T c.892C>T c.(892-894)Cgc>Tgc p.R298C SKCM 5 110446899 110446899 + Silent SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr5:110446899C>T c.1806C>T c.(1804-1806)ttC>ttT p.F602F SKCM 5 110454763 110454763 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:110454763C>T c.2017C>T c.(2017-2019)Cct>Tct p.P673S SKCM 5 110456205 110456205 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr5:110456205C>T c.2084C>T c.(2083-2085)tCc>tTc p.S695F SKCM 5 110459595 110459595 + Silent SNP A A T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr5:110459595A>T c.2409A>T c.(2407-2409)gcA>gcT p.A803A SKCM 5 110462456 110462456 + Missense_Mutation SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr5:110462456G>A c.2731G>A c.(2731-2733)Gag>Aag p.E911K

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 5 110428038 110428038 single base substitution G A 5_prime_UTR_variant BLCA-CN 5 110428038 110428038 single base substitution G A missense_variant E18K 52G>A BLCA-CN 5 110428038 110428038 single base substitution G A upstream_gene_variant BLCA-CN 5 110446505 110446505 single base substitution G A missense_variant R487K 1460G>A BLCA-CN 5 110446505 110446505 single base substitution G A missense_variant R543K 1628G>A BLCA-CN 5 110446619 110446619 single base substitution C T missense_variant S525L 1574C>T BLCA-CN 5 110446619 110446619 single base substitution C T missense_variant S581L 1742C>T BLCA-US 5 110428137 110428137 single base substitution G C 5_prime_UTR_variant BLCA-US 5 110428137 110428137 single base substitution G C exon_variant BLCA-US 5 110428137 110428137 single base substitution G C missense_variant A51P 151G>C BLCA-US 5 110428137 110428137 single base substitution G C upstream_gene_variant BLCA-US 5 110440423 110440423 single base substitution G A downstream_gene_variant BLCA-US 5 110440423 110440423 single base substitution G A missense_variant E312K 934G>A BLCA-US 5 110440423 110440423 single base substitution G A missense_variant E368K 1102G>A BLCA-US 5 110441021 110441021 single base substitution C T downstream_gene_variant BLCA-US 5 110441021 110441021 single base substitution C T missense_variant S352F 1055C>T BLCA-US 5 110441021 110441021 single base substitution C T missense_variant S408F 1223C>T BLCA-US 5 110445967 110445967 single base substitution C T missense_variant S469F 1406C>T BLCA-US 5 110445967 110445967 single base substitution C T missense_variant S525F 1574C>T BLCA-US 5 110459882 110459882 single base substitution A T missense_variant N838I 2513A>T BLCA-US 5 110462533 110462533 single base substitution C T synonymous_variant F936F 2808C>T BOCA-UK 5 110445965 110445965 single base substitution G T missense_variant Q468H 1404G>T BOCA-UK 5 110445965 110445965 single base substitution G T missense_variant Q524H 1572G>T BRCA-EU 5 110422784 110422784 single base substitution G A upstream_gene_variant BRCA-EU 5 110423725 110423725 single base substitution A G upstream_gene_variant BRCA-EU 5 110424978 110424978 single base substitution G C upstream_gene_variant BRCA-EU 5 110425629 110425629 single base substitution G C upstream_gene_variant BRCA-EU 5 110425697 110425697 single base substitution T C upstream_gene_variant BRCA-EU 5 110425772 110425772 single base substitution C G upstream_gene_variant BRCA-EU 5 110426853 110426853 single base substitution C G upstream_gene_variant BRCA-EU 5 110427005 110427005 single base substitution T C upstream_gene_variant BRCA-EU 5 110427632 110427632 single base substitution A G 5_prime_UTR_variant BRCA-EU 5 110427632 110427632 single base substitution A G upstream_gene_variant BRCA-EU 5 110428590 110428590 single base substitution T C intron_variant BRCA-EU 5 110428590 110428590 single base substitution T C upstream_gene_variant BRCA-EU 5 110433133 110433133 single base substitution C T downstream_gene_variant BRCA-EU 5 110433133 110433133 single base substitution C T intron_variant BRCA-EU 5 110433334 110433334 single base substitution G C downstream_gene_variant BRCA-EU 5 110433334 110433334 single base substitution G C intron_variant BRCA-EU 5 110435572 110435574 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 5 110435572 110435574 deletion of <=200bp CTT - intron_variant BRCA-EU 5 110438001 110438001 single base substitution A C intron_variant BRCA-EU 5 110438491 110438491 single base substitution C T intron_variant BRCA-EU 5 110438606 110438608 deletion of <=200bp TTT - intron_variant BRCA-EU 5 110441075 110441075 single base substitution G C downstream_gene_variant BRCA-EU 5 110441075 110441075 single base substitution G C intron_variant BRCA-EU 5 110442238 110442238 single base substitution T C downstream_gene_variant BRCA-EU 5 110442238 110442238 single base substitution T C intron_variant BRCA-EU 5 110442521 110442521 single base substitution C G downstream_gene_variant BRCA-EU 5 110442521 110442521 single base substitution C G intron_variant BRCA-EU 5 110443378 110443378 single base substitution G A downstream_gene_variant BRCA-EU 5 110443378 110443378 single base substitution G A intron_variant BRCA-EU 5 110443389 110443389 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 110443389 110443389 deletion of <=200bp T - intron_variant BRCA-EU 5 110444492 110444492 single base substitution G T downstream_gene_variant BRCA-EU 5 110444492 110444492 single base substitution G T intron_variant BRCA-EU 5 110445856 110445856 single base substitution A G intron_variant BRCA-EU 5 110446154 110446154 single base substitution C T intron_variant BRCA-EU 5 110446579 110446579 single base substitution T C missense_variant F512L 1534T>C BRCA-EU 5 110446579 110446579 single base substitution T C missense_variant F568L 1702T>C BRCA-EU 5 110447002 110447002 single base substitution A G intron_variant BRCA-EU 5 110447002 110447002 single base substitution A G missense_variant T581A 1741A>G BRCA-EU 5 110447305 110447305 single base substitution C G downstream_gene_variant BRCA-EU 5 110447305 110447305 single base substitution C G intron_variant BRCA-EU 5 110449703 110449703 single base substitution C G downstream_gene_variant BRCA-EU 5 110449703 110449703 single base substitution C G intron_variant BRCA-EU 5 110450231 110450231 single base substitution C A downstream_gene_variant BRCA-EU 5 110450231 110450231 single base substitution C A intron_variant BRCA-EU 5 110451382 110451382 single base substitution G T downstream_gene_variant BRCA-EU 5 110451382 110451382 single base substitution G T intron_variant BRCA-EU 5 110451961 110451961 single base substitution G A downstream_gene_variant BRCA-EU 5 110451961 110451961 single base substitution G A intron_variant BRCA-EU 5 110454831 110454831 single base substitution A T intron_variant BRCA-EU 5 110455350 110455350 single base substitution G A intron_variant BRCA-EU 5 110455454 110455454 single base substitution G C intron_variant BRCA-EU 5 110458884 110458884 single base substitution G T intron_variant BRCA-EU 5 110461409 110461409 single base substitution G C missense_variant Q874H 2622G>C BRCA-EU 5 110461418 110461418 single base substitution G C missense_variant L877F 2631G>C BRCA-EU 5 110461713 110461713 single base substitution C T intron_variant BRCA-EU 5 110461935 110461935 deletion of <=200bp T - intron_variant BRCA-EU 5 110462177 110462177 single base substitution G C intron_variant BRCA-EU 5 110463331 110463331 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 110463331 110463331 single base substitution G A downstream_gene_variant BRCA-EU 5 110463715 110463715 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 110463715 110463715 single base substitution C G downstream_gene_variant BRCA-EU 5 110464460 110464460 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 110464460 110464460 single base substitution A G downstream_gene_variant BRCA-EU 5 110466736 110466736 single base substitution T A downstream_gene_variant BRCA-EU 5 110466765 110466765 single base substitution C T downstream_gene_variant BRCA-EU 5 110468307 110468307 single base substitution G T downstream_gene_variant BRCA-EU 5 110468517 110468517 single base substitution C G downstream_gene_variant BRCA-EU 5 110468729 110468729 single base substitution G A downstream_gene_variant BRCA-FR 5 110424978 110424978 single base substitution G C upstream_gene_variant BRCA-FR 5 110434603 110434603 single base substitution T A downstream_gene_variant BRCA-FR 5 110434603 110434603 single base substitution T A intron_variant BRCA-FR 5 110438833 110438833 single base substitution T C intron_variant BRCA-FR 5 110441075 110441075 single base substitution G C downstream_gene_variant BRCA-FR 5 110441075 110441075 single base substitution G C intron_variant BRCA-FR 5 110446579 110446579 single base substitution T C missense_variant F512L 1534T>C BRCA-FR 5 110446579 110446579 single base substitution T C missense_variant F568L 1702T>C BRCA-FR 5 110451771 110451771 single base substitution G A downstream_gene_variant BRCA-FR 5 110451771 110451771 single base substitution G A intron_variant BRCA-FR 5 110452725 110452725 single base substitution G T intron_variant BRCA-FR 5 110458884 110458884 single base substitution G T intron_variant BRCA-FR 5 110464084 110464084 single base substitution A C 3_prime_UTR_variant BRCA-FR 5 110464084 110464084 single base substitution A C downstream_gene_variant BRCA-FR 5 110466765 110466765 single base substitution C T downstream_gene_variant BRCA-FR 5 110466944 110466944 single base substitution G A downstream_gene_variant BRCA-UK 5 110433546 110433546 single base substitution C T downstream_gene_variant BRCA-UK 5 110433546 110433546 single base substitution C T intron_variant BRCA-UK 5 110445856 110445856 single base substitution A G intron_variant BRCA-UK 5 110458044 110458044 single base substitution C T intron_variant BRCA-UK 5 110464460 110464460 single base substitution A G 3_prime_UTR_variant BRCA-UK 5 110464460 110464460 single base substitution A G downstream_gene_variant BRCA-US 5 110445999 110445999 single base substitution C G missense_variant Q480E 1438C>G BRCA-US 5 110445999 110445999 single base substitution C G missense_variant Q536E 1606C>G BRCA-US 5 110446555 110446555 single base substitution G T stop_gained E504* 1510G>T BRCA-US 5 110446555 110446555 single base substitution G T stop_gained E560* 1678G>T BRCA-US 5 110447003 110447003 single base substitution C A intron_variant BRCA-US 5 110447003 110447003 single base substitution C A missense_variant T581N 1742C>A BRCA-US 5 110454814 110454814 single base substitution C G missense_variant L690V 2068C>G BRCA-US 5 110462515 110462515 single base substitution C A synonymous_variant T930T 2790C>A BTCA-JP 5 110427951 110427951 single base substitution T G 5_prime_UTR_variant BTCA-JP 5 110427951 110427951 single base substitution T G upstream_gene_variant BTCA-JP 5 110432765 110432765 single base substitution A G 5_prime_UTR_variant BTCA-JP 5 110432765 110432765 single base substitution A G downstream_gene_variant BTCA-JP 5 110432765 110432765 single base substitution A G intron_variant BTCA-JP 5 110439457 110439457 single base substitution G A intron_variant BTCA-JP 5 110441899 110441899 single base substitution G A downstream_gene_variant BTCA-JP 5 110441899 110441899 single base substitution G A intron_variant BTCA-JP 5 110446456 110446456 deletion of <=200bp T - intron_variant BTCA-JP 5 110456684 110456684 deletion of <=200bp T - intron_variant CESC-US 5 110428117 110428117 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 5 110428117 110428117 single base substitution C G exon_variant CESC-US 5 110428117 110428117 single base substitution C G stop_gained S44* 131C>G CESC-US 5 110428117 110428117 single base substitution C G upstream_gene_variant CESC-US 5 110428130 110428130 single base substitution G A 5_prime_UTR_variant CESC-US 5 110428130 110428130 single base substitution G A exon_variant CESC-US 5 110428130 110428130 single base substitution G A synonymous_variant L48L 144G>A CESC-US 5 110428130 110428130 single base substitution G A upstream_gene_variant CESC-US 5 110440408 110440408 single base substitution G C downstream_gene_variant CESC-US 5 110440408 110440408 single base substitution G C missense_variant D307H 919G>C CESC-US 5 110440408 110440408 single base substitution G C missense_variant D363H 1087G>C CESC-US 5 110442995 110442995 single base substitution G A downstream_gene_variant CESC-US 5 110442995 110442995 single base substitution G A missense_variant E395K 1183G>A CESC-US 5 110442995 110442995 single base substitution G A missense_variant E451K 1351G>A CLLE-ES 5 110433850 110433850 single base substitution C A downstream_gene_variant CLLE-ES 5 110433850 110433850 single base substitution C A intron_variant COAD-US 5 110428109 110428109 single base substitution T C 5_prime_UTR_variant COAD-US 5 110428109 110428109 single base substitution T C exon_variant COAD-US 5 110428109 110428109 single base substitution T C synonymous_variant C41C 123T>C COAD-US 5 110428109 110428109 single base substitution T C upstream_gene_variant COAD-US 5 110434447 110434447 single base substitution G A downstream_gene_variant COAD-US 5 110434447 110434447 single base substitution G A missense_variant A107T 319G>A COAD-US 5 110434447 110434447 single base substitution G A missense_variant A163T 487G>A COAD-US 5 110434447 110434447 single base substitution G A missense_variant A34T 100G>A COAD-US 5 110439611 110439611 single base substitution C T downstream_gene_variant COAD-US 5 110439611 110439611 single base substitution C T missense_variant R242C 724C>T COAD-US 5 110439611 110439611 single base substitution C T missense_variant R298C 892C>T COAD-US 5 110443075 110443075 single base substitution A C downstream_gene_variant COAD-US 5 110443075 110443075 single base substitution A C missense_variant K421N 1263A>C COAD-US 5 110443075 110443075 single base substitution A C missense_variant K477N 1431A>C COAD-US 5 110454738 110454738 single base substitution G A synonymous_variant S664S 1992G>A COAD-US 5 110462474 110462474 single base substitution G T stop_gained E917* 2749G>T COCA-CN 5 110424076 110424076 single base substitution G T upstream_gene_variant COCA-CN 5 110424280 110424280 single base substitution C T upstream_gene_variant COCA-CN 5 110434545 110434545 single base substitution T C downstream_gene_variant COCA-CN 5 110434545 110434545 single base substitution T C splice_region_variant COCA-CN 5 110435161 110435161 single base substitution G T downstream_gene_variant COCA-CN 5 110435161 110435161 single base substitution G T intron_variant COCA-CN 5 110439499 110439499 single base substitution T C synonymous_variant D131D 393T>C COCA-CN 5 110439499 110439499 single base substitution T C synonymous_variant D204D 612T>C COCA-CN 5 110439499 110439499 single base substitution T C synonymous_variant D260D 780T>C COCA-CN 5 110439817 110439817 single base substitution C A downstream_gene_variant COCA-CN 5 110439817 110439817 single base substitution C A intron_variant COCA-CN 5 110441439 110441439 single base substitution T C downstream_gene_variant COCA-CN 5 110441439 110441439 single base substitution T C intron_variant COCA-CN 5 110441533 110441533 single base substitution G A downstream_gene_variant COCA-CN 5 110441533 110441533 single base substitution G A intron_variant COCA-CN 5 110441715 110441715 single base substitution G T downstream_gene_variant COCA-CN 5 110441715 110441715 single base substitution G T intron_variant COCA-CN 5 110441783 110441783 single base substitution G A downstream_gene_variant COCA-CN 5 110441783 110441783 single base substitution G A missense_variant R374H 1121G>A COCA-CN 5 110441783 110441783 single base substitution G A missense_variant R430H 1289G>A COCA-CN 5 110441806 110441806 single base substitution T C downstream_gene_variant COCA-CN 5 110441806 110441806 single base substitution T C missense_variant S382P 1144T>C COCA-CN 5 110441806 110441806 single base substitution T C missense_variant S438P 1312T>C COCA-CN 5 110445979 110445979 single base substitution G A missense_variant R473Q 1418G>A COCA-CN 5 110445979 110445979 single base substitution G A missense_variant R529Q 1586G>A COCA-CN 5 110446679 110446679 single base substitution C A intron_variant COCA-CN 5 110447105 110447105 single base substitution G T 3_prime_UTR_variant COCA-CN 5 110447105 110447105 single base substitution G T intron_variant COCA-CN 5 110448088 110448088 single base substitution C A downstream_gene_variant COCA-CN 5 110448088 110448088 single base substitution C A intron_variant COCA-CN 5 110454591 110454591 single base substitution A T intron_variant COCA-CN 5 110461622 110461622 single base substitution G A intron_variant COCA-CN 5 110469058 110469058 single base substitution A G downstream_gene_variant EOPC-DE 5 110447282 110447282 single base substitution A T downstream_gene_variant EOPC-DE 5 110447282 110447282 single base substitution A T intron_variant ESAD-UK 5 110422418 110422418 single base substitution G C upstream_gene_variant ESAD-UK 5 110422429 110422429 single base substitution T A upstream_gene_variant ESAD-UK 5 110423042 110423042 insertion of <=200bp - C upstream_gene_variant ESAD-UK 5 110426704 110426704 single base substitution A G upstream_gene_variant ESAD-UK 5 110426814 110426814 single base substitution A T upstream_gene_variant ESAD-UK 5 110427343 110427343 single base substitution G T upstream_gene_variant ESAD-UK 5 110428439 110428462 deletion of <=200bp GTCCTATTAATATTTCGCCATCCG - intron_variant ESAD-UK 5 110428439 110428462 deletion of <=200bp GTCCTATTAATATTTCGCCATCCG - upstream_gene_variant ESAD-UK 5 110428456 110428456 single base substitution C T intron_variant ESAD-UK 5 110428456 110428456 single base substitution C T upstream_gene_variant ESAD-UK 5 110429813 110429813 single base substitution C T intron_variant ESAD-UK 5 110429813 110429813 single base substitution C T upstream_gene_variant ESAD-UK 5 110430343 110430343 single base substitution C A intron_variant ESAD-UK 5 110430343 110430343 single base substitution C A upstream_gene_variant ESAD-UK 5 110431217 110431217 single base substitution G A downstream_gene_variant ESAD-UK 5 110431217 110431217 single base substitution G A intron_variant ESAD-UK 5 110431217 110431217 single base substitution G A upstream_gene_variant ESAD-UK 5 110435110 110435110 single base substitution G A downstream_gene_variant ESAD-UK 5 110435110 110435110 single base substitution G A intron_variant ESAD-UK 5 110435603 110435603 single base substitution G C downstream_gene_variant ESAD-UK 5 110435603 110435603 single base substitution G C intron_variant ESAD-UK 5 110439880 110439880 single base substitution T G downstream_gene_variant ESAD-UK 5 110439880 110439880 single base substitution T G synonymous_variant G245G 735T>G ESAD-UK 5 110439880 110439880 single base substitution T G synonymous_variant G301G 903T>G ESAD-UK 5 110441008 110441008 single base substitution C T downstream_gene_variant ESAD-UK 5 110441008 110441008 single base substitution C T missense_variant L348F 1042C>T ESAD-UK 5 110441008 110441008 single base substitution C T missense_variant L404F 1210C>T ESAD-UK 5 110441380 110441380 single base substitution C T downstream_gene_variant ESAD-UK 5 110441380 110441380 single base substitution C T intron_variant ESAD-UK 5 110442344 110442344 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 110442344 110442344 insertion of <=200bp - A intron_variant ESAD-UK 5 110442888 110442888 single base substitution T C downstream_gene_variant ESAD-UK 5 110442888 110442888 single base substitution T C intron_variant ESAD-UK 5 110443739 110443739 single base substitution G C downstream_gene_variant ESAD-UK 5 110443739 110443739 single base substitution G C intron_variant ESAD-UK 5 110443839 110443839 single base substitution C A downstream_gene_variant ESAD-UK 5 110443839 110443839 single base substitution C A intron_variant ESAD-UK 5 110443884 110443884 single base substitution G A downstream_gene_variant ESAD-UK 5 110443884 110443884 single base substitution G A intron_variant ESAD-UK 5 110444456 110444456 single base substitution G A downstream_gene_variant ESAD-UK 5 110444456 110444456 single base substitution G A intron_variant ESAD-UK 5 110447193 110447193 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 5 110447193 110447193 insertion of <=200bp - T intron_variant ESAD-UK 5 110447319 110447319 single base substitution A G downstream_gene_variant ESAD-UK 5 110447319 110447319 single base substitution A G intron_variant ESAD-UK 5 110447453 110447453 single base substitution A G downstream_gene_variant ESAD-UK 5 110447453 110447453 single base substitution A G intron_variant ESAD-UK 5 110448269 110448269 single base substitution G A downstream_gene_variant ESAD-UK 5 110448269 110448269 single base substitution G A intron_variant ESAD-UK 5 110448755 110448755 single base substitution T A downstream_gene_variant ESAD-UK 5 110448755 110448755 single base substitution T A intron_variant ESAD-UK 5 110448838 110448838 single base substitution C G downstream_gene_variant ESAD-UK 5 110448838 110448838 single base substitution C G missense_variant D650E 1950C>G ESAD-UK 5 110449536 110449536 single base substitution C T downstream_gene_variant ESAD-UK 5 110449536 110449536 single base substitution C T intron_variant ESAD-UK 5 110450888 110450888 single base substitution G A downstream_gene_variant ESAD-UK 5 110450888 110450888 single base substitution G A intron_variant ESAD-UK 5 110453157 110453157 single base substitution C T intron_variant ESAD-UK 5 110455125 110455125 single base substitution T C intron_variant ESAD-UK 5 110455675 110455675 single base substitution G A intron_variant ESAD-UK 5 110458263 110458263 single base substitution C G intron_variant ESAD-UK 5 110459421 110459421 single base substitution T A intron_variant ESAD-UK 5 110460786 110460786 single base substitution G A intron_variant ESAD-UK 5 110461102 110461102 single base substitution C T intron_variant ESAD-UK 5 110461655 110461655 single base substitution G A intron_variant ESAD-UK 5 110463631 110463631 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 110463631 110463631 single base substitution T G downstream_gene_variant ESAD-UK 5 110464470 110464492 deletion of <=200bp TATAATTTTATCTATATTTTCCT - 3_prime_UTR_variant ESAD-UK 5 110464470 110464492 deletion of <=200bp TATAATTTTATCTATATTTTCCT - downstream_gene_variant ESAD-UK 5 110464539 110464539 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 110464539 110464539 single base substitution A G downstream_gene_variant ESAD-UK 5 110465830 110465833 deletion of <=200bp ATTT - 3_prime_UTR_variant ESAD-UK 5 110465830 110465833 deletion of <=200bp ATTT - downstream_gene_variant ESAD-UK 5 110466051 110466051 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 110466051 110466051 single base substitution T G downstream_gene_variant ESAD-UK 5 110467191 110467191 single base substitution G A downstream_gene_variant ESAD-UK 5 110470757 110470757 single base substitution G T downstream_gene_variant ESCA-CN 5 110446091 110446091 single base substitution G A intron_variant ESCA-CN 5 110462498 110462498 single base substitution G T missense_variant V925L 2773G>T KIRC-US 5 110428209 110428209 single base substitution G T exon_variant KIRC-US 5 110428209 110428209 single base substitution G T missense_variant A19S 55G>T KIRC-US 5 110428209 110428209 single base substitution G T missense_variant A75S 223G>T KIRC-US 5 110428209 110428209 single base substitution G T upstream_gene_variant KIRC-US 5 110434508 110434508 single base substitution T G downstream_gene_variant KIRC-US 5 110434508 110434508 single base substitution T G missense_variant I127S 380T>G KIRC-US 5 110434508 110434508 single base substitution T G missense_variant I183S 548T>G KIRC-US 5 110434508 110434508 single base substitution T G missense_variant I54S 161T>G KIRP-US 5 110428267 110428267 single base substitution G T exon_variant KIRP-US 5 110428267 110428267 single base substitution G T missense_variant R38L 113G>T KIRP-US 5 110428267 110428267 single base substitution G T missense_variant R94L 281G>T KIRP-US 5 110428267 110428267 single base substitution G T upstream_gene_variant LAML-KR 5 110424321 110424321 single base substitution C G upstream_gene_variant LAML-KR 5 110434307 110434307 single base substitution G A downstream_gene_variant LAML-KR 5 110434307 110434307 single base substitution G A intron_variant LAML-KR 5 110456133 110456133 single base substitution T G intron_variant LICA-CN 5 110454717 110454717 single base substitution A G missense_variant I657M 1971A>G LICA-FR 5 110422526 110422526 single base substitution A G upstream_gene_variant LICA-FR 5 110423801 110423801 single base substitution C G upstream_gene_variant LICA-FR 5 110424117 110424117 single base substitution G A upstream_gene_variant LICA-FR 5 110424439 110424439 single base substitution A T upstream_gene_variant LICA-FR 5 110424493 110424493 single base substitution G A upstream_gene_variant LICA-FR 5 110428001 110428001 single base substitution G A synonymous_variant E5E 15G>A LICA-FR 5 110428001 110428001 single base substitution G A upstream_gene_variant LICA-FR 5 110428002 110428002 single base substitution G T missense_variant G6C 16G>T LICA-FR 5 110428002 110428002 single base substitution G T upstream_gene_variant LICA-FR 5 110440020 110440020 single base substitution T C downstream_gene_variant LICA-FR 5 110440020 110440020 single base substitution T C missense_variant L292P 875T>C LICA-FR 5 110440020 110440020 single base substitution T C missense_variant L348P 1043T>C LICA-FR 5 110445921 110445921 single base substitution G C missense_variant V454L 1360G>C LICA-FR 5 110445921 110445921 single base substitution G C missense_variant V510L 1528G>C LICA-FR 5 110448824 110448824 single base substitution A G downstream_gene_variant LICA-FR 5 110448824 110448824 single base substitution A G missense_variant I646V 1936A>G LICA-FR 5 110448847 110448847 single base substitution T A downstream_gene_variant LICA-FR 5 110448847 110448847 single base substitution T A synonymous_variant S653S 1959T>A LICA-FR 5 110459625 110459631 deletion of <=200bp AAAAAAC - splice_region_variant LICA-FR 5 110463626 110463626 insertion of <=200bp - G 3_prime_UTR_variant LICA-FR 5 110463626 110463626 insertion of <=200bp - G downstream_gene_variant LICA-FR 5 110467033 110467033 single base substitution A G downstream_gene_variant LICA-FR 5 110468769 110468769 single base substitution G A downstream_gene_variant LIHC-US 5 110430616 110430616 single base substitution A T splice_acceptor_variant LIHC-US 5 110430616 110430616 single base substitution A T upstream_gene_variant LIHC-US 5 110456277 110456277 single base substitution C A missense_variant T719N 2156C>A LINC-JP 5 110434505 110434505 single base substitution G A downstream_gene_variant LINC-JP 5 110434505 110434505 single base substitution G A missense_variant G126D 377G>A LINC-JP 5 110434505 110434505 single base substitution G A missense_variant G182D 545G>A LINC-JP 5 110434505 110434505 single base substitution G A missense_variant G53D 158G>A LINC-JP 5 110436337 110436337 single base substitution A G synonymous_variant A153A 459A>G LINC-JP 5 110436337 110436337 single base substitution A G synonymous_variant A209A 627A>G LINC-JP 5 110436337 110436337 single base substitution A G synonymous_variant A80A 240A>G LINC-JP 5 110436386 110436386 single base substitution C A missense_variant Q170K 508C>A LINC-JP 5 110436386 110436386 single base substitution C A missense_variant Q226K 676C>A LINC-JP 5 110436386 110436386 single base substitution C A missense_variant Q97K 289C>A LINC-JP 5 110438165 110438165 single base substitution C T intron_variant LINC-JP 5 110439118 110439118 single base substitution G A intron_variant LINC-JP 5 110442975 110442975 single base substitution A G downstream_gene_variant LINC-JP 5 110442975 110442975 single base substitution A G intron_variant LINC-JP 5 110446359 110446359 single base substitution A G intron_variant LINC-JP 5 110446864 110446864 single base substitution G A intron_variant LINC-JP 5 110446864 110446864 single base substitution G A splice_region_variant LINC-JP 5 110448318 110448318 single base substitution A G downstream_gene_variant LINC-JP 5 110448318 110448318 single base substitution A G intron_variant LINC-JP 5 110456158 110456158 single base substitution A G intron_variant LINC-JP 5 110456846 110456846 single base substitution A G splice_region_variant LINC-JP 5 110467581 110467581 single base substitution T C downstream_gene_variant LIRI-JP 5 110423117 110423117 single base substitution C A upstream_gene_variant LIRI-JP 5 110426338 110426338 single base substitution A C upstream_gene_variant LIRI-JP 5 110426729 110426729 single base substitution A G upstream_gene_variant LIRI-JP 5 110427062 110427062 single base substitution G T upstream_gene_variant LIRI-JP 5 110427318 110427332 deletion of <=200bp CTAAGGCACTCAGCT - upstream_gene_variant LIRI-JP 5 110427864 110427864 single base substitution G A 5_prime_UTR_variant LIRI-JP 5 110427864 110427864 single base substitution G A upstream_gene_variant LIRI-JP 5 110428114 110428114 single base substitution C T 5_prime_UTR_variant LIRI-JP 5 110428114 110428114 single base substitution C T exon_variant LIRI-JP 5 110428114 110428114 single base substitution C T missense_variant P43L 128C>T LIRI-JP 5 110428114 110428114 single base substitution C T upstream_gene_variant LIRI-JP 5 110428271 110428271 single base substitution G T exon_variant LIRI-JP 5 110428271 110428271 single base substitution G T synonymous_variant R39R 117G>T LIRI-JP 5 110428271 110428271 single base substitution G T synonymous_variant R95R 285G>T LIRI-JP 5 110428271 110428271 single base substitution G T upstream_gene_variant LIRI-JP 5 110428279 110428279 single base substitution T C exon_variant LIRI-JP 5 110428279 110428279 single base substitution T C missense_variant V42A 125T>C LIRI-JP 5 110428279 110428279 single base substitution T C missense_variant V98A 293T>C LIRI-JP 5 110428279 110428279 single base substitution T C upstream_gene_variant LIRI-JP 5 110428608 110428608 single base substitution G A intron_variant LIRI-JP 5 110428608 110428608 single base substitution G A upstream_gene_variant LIRI-JP 5 110429124 110429124 single base substitution A T intron_variant LIRI-JP 5 110429124 110429124 single base substitution A T upstream_gene_variant LIRI-JP 5 110429218 110429218 single base substitution A G intron_variant LIRI-JP 5 110429218 110429218 single base substitution A G upstream_gene_variant LIRI-JP 5 110429747 110429747 single base substitution A G intron_variant LIRI-JP 5 110429747 110429747 single base substitution A G upstream_gene_variant LIRI-JP 5 110431566 110431566 single base substitution T C downstream_gene_variant LIRI-JP 5 110431566 110431566 single base substitution T C intron_variant LIRI-JP 5 110431566 110431566 single base substitution T C upstream_gene_variant LIRI-JP 5 110432276 110432276 single base substitution C T downstream_gene_variant LIRI-JP 5 110432276 110432276 single base substitution C T intron_variant LIRI-JP 5 110432276 110432276 single base substitution C T upstream_gene_variant LIRI-JP 5 110433502 110433502 single base substitution T G downstream_gene_variant LIRI-JP 5 110433502 110433502 single base substitution T G intron_variant LIRI-JP 5 110437513 110437513 single base substitution C G intron_variant LIRI-JP 5 110438341 110438341 single base substitution A G intron_variant LIRI-JP 5 110438563 110438563 single base substitution A G intron_variant LIRI-JP 5 110441320 110441320 single base substitution C G downstream_gene_variant LIRI-JP 5 110441320 110441320 single base substitution C G intron_variant LIRI-JP 5 110443484 110443484 single base substitution A G downstream_gene_variant LIRI-JP 5 110443484 110443484 single base substitution A G intron_variant LIRI-JP 5 110443843 110443843 single base substitution A G downstream_gene_variant LIRI-JP 5 110443843 110443843 single base substitution A G intron_variant LIRI-JP 5 110451013 110451013 single base substitution T C downstream_gene_variant LIRI-JP 5 110451013 110451013 single base substitution T C intron_variant LIRI-JP 5 110451727 110451727 single base substitution G A downstream_gene_variant LIRI-JP 5 110451727 110451727 single base substitution G A intron_variant LIRI-JP 5 110454631 110454631 single base substitution T G intron_variant LIRI-JP 5 110455725 110455725 single base substitution A G intron_variant LIRI-JP 5 110458491 110458491 single base substitution C T intron_variant LIRI-JP 5 110458584 110458584 single base substitution G A intron_variant LIRI-JP 5 110460308 110460308 insertion of <=200bp - T intron_variant LIRI-JP 5 110460929 110460929 single base substitution C G intron_variant LIRI-JP 5 110461273 110461273 single base substitution A G intron_variant LIRI-JP 5 110461468 110461468 single base substitution A T missense_variant Q894L 2681A>T LIRI-JP 5 110461973 110461973 single base substitution A G intron_variant LIRI-JP 5 110462335 110462335 single base substitution C T intron_variant LIRI-JP 5 110468509 110468509 single base substitution C T downstream_gene_variant LIRI-JP 5 110470359 110470359 single base substitution A G downstream_gene_variant LUSC-KR 5 110422539 110422539 single base substitution G T upstream_gene_variant LUSC-KR 5 110424051 110424051 single base substitution G A upstream_gene_variant LUSC-KR 5 110424102 110424102 single base substitution G A upstream_gene_variant LUSC-KR 5 110424241 110424241 single base substitution G A upstream_gene_variant LUSC-KR 5 110424715 110424715 single base substitution G A upstream_gene_variant LUSC-KR 5 110424724 110424724 single base substitution G A upstream_gene_variant LUSC-KR 5 110424892 110424892 single base substitution T A upstream_gene_variant LUSC-KR 5 110427808 110427808 single base substitution T A 5_prime_UTR_variant LUSC-KR 5 110427808 110427808 single base substitution T A upstream_gene_variant LUSC-KR 5 110434272 110434272 single base substitution G C downstream_gene_variant LUSC-KR 5 110434272 110434272 single base substitution G C intron_variant LUSC-KR 5 110434307 110434307 single base substitution G A downstream_gene_variant LUSC-KR 5 110434307 110434307 single base substitution G A intron_variant LUSC-KR 5 110436007 110436007 single base substitution C T intron_variant LUSC-KR 5 110443016 110443016 single base substitution G A downstream_gene_variant LUSC-KR 5 110443016 110443016 single base substitution G A missense_variant D402N 1204G>A LUSC-KR 5 110443016 110443016 single base substitution G A missense_variant D458N 1372G>A LUSC-KR 5 110443228 110443228 single base substitution C T downstream_gene_variant LUSC-KR 5 110443228 110443228 single base substitution C T intron_variant LUSC-KR 5 110446741 110446741 single base substitution C A intron_variant LUSC-KR 5 110448174 110448174 single base substitution C G downstream_gene_variant LUSC-KR 5 110448174 110448174 single base substitution C G intron_variant LUSC-KR 5 110454681 110454681 single base substitution A G intron_variant LUSC-KR 5 110455404 110455404 single base substitution T A intron_variant LUSC-KR 5 110456704 110456704 single base substitution A T synonymous_variant V727V 2181A>T LUSC-KR 5 110466800 110466800 single base substitution A G downstream_gene_variant LUSC-KR 5 110469896 110469896 single base substitution A G downstream_gene_variant LUSC-US 5 110428113 110428113 single base substitution C T 5_prime_UTR_variant LUSC-US 5 110428113 110428113 single base substitution C T exon_variant LUSC-US 5 110428113 110428113 single base substitution C T missense_variant P43S 127C>T LUSC-US 5 110428113 110428113 single base substitution C T upstream_gene_variant LUSC-US 5 110439942 110439942 single base substitution A G downstream_gene_variant LUSC-US 5 110439942 110439942 single base substitution A G missense_variant K266R 797A>G LUSC-US 5 110439942 110439942 single base substitution A G missense_variant K322R 965A>G LUSC-US 5 110443093 110443093 single base substitution C G downstream_gene_variant LUSC-US 5 110443093 110443093 single base substitution C G stop_gained Y427* 1281C>G LUSC-US 5 110443093 110443093 single base substitution C G stop_gained Y483* 1449C>G LUSC-US 5 110461440 110461440 single base substitution G A missense_variant D885N 2653G>A MALY-DE 5 110439618 110439618 single base substitution G A downstream_gene_variant MALY-DE 5 110439618 110439618 single base substitution G A splice_donor_variant MALY-DE 5 110441751 110441751 single base substitution C G downstream_gene_variant MALY-DE 5 110441751 110441751 single base substitution C G splice_region_variant MALY-DE 5 110442113 110442113 single base substitution G A downstream_gene_variant MALY-DE 5 110442113 110442113 single base substitution G A intron_variant MALY-DE 5 110445811 110445811 insertion of <=200bp - A intron_variant MALY-DE 5 110448646 110448646 single base substitution C G downstream_gene_variant MALY-DE 5 110448646 110448646 single base substitution C G intron_variant MALY-DE 5 110448753 110448753 single base substitution T A downstream_gene_variant MALY-DE 5 110448753 110448753 single base substitution T A intron_variant MALY-DE 5 110458939 110458939 single base substitution A G intron_variant MALY-DE 5 110468126 110468126 single base substitution A T downstream_gene_variant MALY-DE 5 110468415 110468415 single base substitution A T downstream_gene_variant MALY-DE 5 110470573 110470573 deletion of <=200bp A - downstream_gene_variant MELA-AU 5 110422882 110422882 single base substitution T A upstream_gene_variant MELA-AU 5 110422970 110422970 single base substitution G A upstream_gene_variant MELA-AU 5 110423022 110423022 single base substitution G A upstream_gene_variant MELA-AU 5 110423023 110423023 single base substitution G A upstream_gene_variant MELA-AU 5 110423040 110423040 single base substitution C T upstream_gene_variant MELA-AU 5 110423111 110423111 single base substitution G A upstream_gene_variant MELA-AU 5 110423145 110423145 single base substitution C T upstream_gene_variant MELA-AU 5 110423431 110423431 single base substitution C T upstream_gene_variant MELA-AU 5 110423482 110423482 single base substitution A T upstream_gene_variant MELA-AU 5 110423579 110423579 single base substitution C T upstream_gene_variant MELA-AU 5 110424961 110424961 single base substitution C T upstream_gene_variant MELA-AU 5 110425022 110425022 single base substitution C T upstream_gene_variant MELA-AU 5 110425598 110425598 single base substitution C T upstream_gene_variant MELA-AU 5 110425698 110425698 single base substitution C T upstream_gene_variant MELA-AU 5 110425792 110425792 single base substitution C T upstream_gene_variant MELA-AU 5 110426278 110426278 single base substitution C T upstream_gene_variant MELA-AU 5 110426343 110426343 single base substitution C T upstream_gene_variant MELA-AU 5 110426389 110426389 single base substitution C T upstream_gene_variant MELA-AU 5 110426652 110426652 single base substitution A G upstream_gene_variant MELA-AU 5 110426837 110426837 single base substitution G A upstream_gene_variant MELA-AU 5 110426858 110426858 single base substitution T A upstream_gene_variant MELA-AU 5 110427307 110427307 single base substitution C T upstream_gene_variant MELA-AU 5 110427415 110427415 single base substitution C T 5_prime_UTR_variant MELA-AU 5 110427415 110427415 single base substitution C T upstream_gene_variant MELA-AU 5 110427419 110427419 single base substitution G A 5_prime_UTR_variant MELA-AU 5 110427419 110427419 single base substitution G A upstream_gene_variant MELA-AU 5 110427523 110427523 single base substitution C T 5_prime_UTR_variant MELA-AU 5 110427523 110427523 single base substitution C T upstream_gene_variant MELA-AU 5 110427719 110427719 single base substitution T A 5_prime_UTR_variant MELA-AU 5 110427719 110427719 single base substitution T A upstream_gene_variant MELA-AU 5 110428020 110428020 single base substitution G A 5_prime_UTR_variant MELA-AU 5 110428020 110428020 single base substitution G A missense_variant D12N 34G>A MELA-AU 5 110428020 110428020 single base substitution G A upstream_gene_variant MELA-AU 5 110428461 110428461 single base substitution C T intron_variant MELA-AU 5 110428461 110428461 single base substitution C T upstream_gene_variant MELA-AU 5 110429082 110429082 single base substitution T C intron_variant MELA-AU 5 110429082 110429082 single base substitution T C upstream_gene_variant MELA-AU 5 110429572 110429572 single base substitution A G intron_variant MELA-AU 5 110429572 110429572 single base substitution A G upstream_gene_variant MELA-AU 5 110431347 110431347 single base substitution C T downstream_gene_variant MELA-AU 5 110431347 110431347 single base substitution C T intron_variant MELA-AU 5 110431347 110431347 single base substitution C T upstream_gene_variant MELA-AU 5 110432276 110432276 single base substitution C T downstream_gene_variant MELA-AU 5 110432276 110432276 single base substitution C T intron_variant MELA-AU 5 110432276 110432276 single base substitution C T upstream_gene_variant MELA-AU 5 110432339 110432339 single base substitution T C downstream_gene_variant MELA-AU 5 110432339 110432339 single base substitution T C intron_variant MELA-AU 5 110432339 110432339 single base substitution T C upstream_gene_variant MELA-AU 5 110433342 110433342 single base substitution G A downstream_gene_variant MELA-AU 5 110433342 110433342 single base substitution G A intron_variant MELA-AU 5 110434079 110434079 single base substitution C T downstream_gene_variant MELA-AU 5 110434079 110434079 single base substitution C T intron_variant MELA-AU 5 110434409 110434409 single base substitution C T downstream_gene_variant MELA-AU 5 110434409 110434409 single base substitution C T intron_variant MELA-AU 5 110434731 110434731 single base substitution T C downstream_gene_variant MELA-AU 5 110434731 110434731 single base substitution T C intron_variant MELA-AU 5 110435166 110435166 single base substitution T G downstream_gene_variant MELA-AU 5 110435166 110435166 single base substitution T G intron_variant MELA-AU 5 110435473 110435473 single base substitution C T downstream_gene_variant MELA-AU 5 110435473 110435473 single base substitution C T intron_variant MELA-AU 5 110435590 110435590 single base substitution T C downstream_gene_variant MELA-AU 5 110435590 110435590 single base substitution T C intron_variant MELA-AU 5 110435751 110435751 single base substitution T C downstream_gene_variant MELA-AU 5 110435751 110435751 single base substitution T C intron_variant MELA-AU 5 110436130 110436130 single base substitution T G intron_variant MELA-AU 5 110437138 110437138 single base substitution C T intron_variant MELA-AU 5 110438190 110438190 single base substitution G A intron_variant MELA-AU 5 110438360 110438360 single base substitution C T intron_variant MELA-AU 5 110439041 110439041 single base substitution C T intron_variant MELA-AU 5 110439292 110439292 single base substitution A T intron_variant MELA-AU 5 110439863 110439863 single base substitution A T downstream_gene_variant MELA-AU 5 110439863 110439863 single base substitution A T intron_variant MELA-AU 5 110440531 110440531 single base substitution C T downstream_gene_variant MELA-AU 5 110440531 110440531 single base substitution C T intron_variant MELA-AU 5 110440946 110440946 single base substitution C T downstream_gene_variant MELA-AU 5 110440946 110440946 single base substitution C T intron_variant MELA-AU 5 110441002 110441002 single base substitution G A downstream_gene_variant MELA-AU 5 110441002 110441002 single base substitution G A missense_variant G346R 1036G>A MELA-AU 5 110441002 110441002 single base substitution G A missense_variant G402R 1204G>A MELA-AU 5 110442527 110442527 single base substitution C T downstream_gene_variant MELA-AU 5 110442527 110442527 single base substitution C T intron_variant MELA-AU 5 110442985 110442985 single base substitution C T downstream_gene_variant MELA-AU 5 110442985 110442985 single base substitution C T splice_region_variant MELA-AU 5 110443083 110443083 deletion of <=200bp T - downstream_gene_variant MELA-AU 5 110443083 110443083 deletion of <=200bp T - frameshift_variant I424 MELA-AU 5 110443083 110443083 deletion of <=200bp T - frameshift_variant I480 MELA-AU 5 110443469 110443469 single base substitution C T downstream_gene_variant MELA-AU 5 110443469 110443469 single base substitution C T intron_variant MELA-AU 5 110443891 110443891 insertion of <=200bp - T downstream_gene_variant MELA-AU 5 110443891 110443891 insertion of <=200bp - T intron_variant MELA-AU 5 110445020 110445020 single base substitution C T intron_variant MELA-AU 5 110446018 110446018 single base substitution C T intron_variant MELA-AU 5 110446154 110446154 single base substitution C T intron_variant MELA-AU 5 110446285 110446285 single base substitution G A intron_variant MELA-AU 5 110446555 110446555 single base substitution G A missense_variant E504K 1510G>A MELA-AU 5 110446555 110446555 single base substitution G A missense_variant E560K 1678G>A MELA-AU 5 110446600 110446600 single base substitution C T missense_variant H519Y 1555C>T MELA-AU 5 110446600 110446600 single base substitution C T missense_variant H575Y 1723C>T MELA-AU 5 110446632 110446632 single base substitution C T synonymous_variant I529I 1587C>T MELA-AU 5 110446632 110446632 single base substitution C T synonymous_variant I585I 1755C>T MELA-AU 5 110447963 110447963 single base substitution T A downstream_gene_variant MELA-AU 5 110447963 110447963 single base substitution T A intron_variant MELA-AU 5 110448024 110448024 single base substitution C T downstream_gene_variant MELA-AU 5 110448024 110448024 single base substitution C T intron_variant MELA-AU 5 110448383 110448383 single base substitution T C downstream_gene_variant MELA-AU 5 110448383 110448383 single base substitution T C intron_variant MELA-AU 5 110448753 110448753 single base substitution T A downstream_gene_variant MELA-AU 5 110448753 110448753 single base substitution T A intron_variant MELA-AU 5 110448791 110448791 single base substitution C T downstream_gene_variant MELA-AU 5 110448791 110448791 single base substitution C T missense_variant R635C 1903C>T MELA-AU 5 110449140 110449140 single base substitution C T downstream_gene_variant MELA-AU 5 110449140 110449140 single base substitution C T intron_variant MELA-AU 5 110449579 110449579 single base substitution C A downstream_gene_variant MELA-AU 5 110449579 110449579 single base substitution C A intron_variant MELA-AU 5 110449739 110449739 single base substitution C T downstream_gene_variant MELA-AU 5 110449739 110449739 single base substitution C T intron_variant MELA-AU 5 110450063 110450063 single base substitution G A downstream_gene_variant MELA-AU 5 110450063 110450063 single base substitution G A intron_variant MELA-AU 5 110450082 110450082 single base substitution C T downstream_gene_variant MELA-AU 5 110450082 110450082 single base substitution C T intron_variant MELA-AU 5 110452254 110452254 single base substitution C T intron_variant MELA-AU 5 110453270 110453270 single base substitution C G intron_variant MELA-AU 5 110453953 110453953 single base substitution C T intron_variant MELA-AU 5 110454076 110454076 single base substitution T C intron_variant MELA-AU 5 110454110 110454110 single base substitution C T intron_variant MELA-AU 5 110454440 110454440 single base substitution C T intron_variant MELA-AU 5 110454623 110454623 single base substitution C T intron_variant MELA-AU 5 110454919 110454919 single base substitution A G intron_variant MELA-AU 5 110456091 110456091 single base substitution T A intron_variant MELA-AU 5 110456205 110456205 single base substitution C T missense_variant S695F 2084C>T MELA-AU 5 110456530 110456530 single base substitution A G intron_variant MELA-AU 5 110456539 110456539 single base substitution A C intron_variant MELA-AU 5 110456923 110456923 single base substitution T A intron_variant MELA-AU 5 110457967 110457967 single base substitution C G intron_variant MELA-AU 5 110457968 110457968 deletion of <=200bp T - intron_variant MELA-AU 5 110458257 110458257 single base substitution C T intron_variant MELA-AU 5 110458320 110458320 single base substitution C T intron_variant MELA-AU 5 110458559 110458560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 110458724 110458724 single base substitution T C intron_variant MELA-AU 5 110458941 110458941 single base substitution C T intron_variant MELA-AU 5 110459018 110459018 single base substitution T G intron_variant MELA-AU 5 110459073 110459073 single base substitution C T intron_variant MELA-AU 5 110459372 110459372 single base substitution A C intron_variant MELA-AU 5 110460486 110460486 single base substitution C T intron_variant MELA-AU 5 110460854 110460855 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 110461201 110461201 single base substitution C T intron_variant MELA-AU 5 110461221 110461221 single base substitution C T intron_variant MELA-AU 5 110461636 110461636 single base substitution C T intron_variant MELA-AU 5 110462450 110462450 single base substitution C A missense_variant P909T 2725C>A MELA-AU 5 110462456 110462456 single base substitution G A missense_variant E911K 2731G>A MELA-AU 5 110462884 110462884 single base substitution A G 3_prime_UTR_variant MELA-AU 5 110462884 110462884 single base substitution A G downstream_gene_variant MELA-AU 5 110463560 110463560 single base substitution T C 3_prime_UTR_variant MELA-AU 5 110463560 110463560 single base substitution T C downstream_gene_variant MELA-AU 5 110463616 110463616 single base substitution G A 3_prime_UTR_variant MELA-AU 5 110463616 110463616 single base substitution G A downstream_gene_variant MELA-AU 5 110464057 110464057 single base substitution A G 3_prime_UTR_variant MELA-AU 5 110464057 110464057 single base substitution A G downstream_gene_variant MELA-AU 5 110464089 110464089 single base substitution C T 3_prime_UTR_variant MELA-AU 5 110464089 110464089 single base substitution C T downstream_gene_variant MELA-AU 5 110464351 110464351 single base substitution T C 3_prime_UTR_variant MELA-AU 5 110464351 110464351 single base substitution T C downstream_gene_variant MELA-AU 5 110464772 110464772 single base substitution T A 3_prime_UTR_variant MELA-AU 5 110464772 110464772 single base substitution T A downstream_gene_variant MELA-AU 5 110465201 110465201 single base substitution T G 3_prime_UTR_variant MELA-AU 5 110465201 110465201 single base substitution T G downstream_gene_variant MELA-AU 5 110465603 110465603 single base substitution C T 3_prime_UTR_variant MELA-AU 5 110465603 110465603 single base substitution C T downstream_gene_variant MELA-AU 5 110465963 110465963 single base substitution C T 3_prime_UTR_variant MELA-AU 5 110465963 110465963 single base substitution C T downstream_gene_variant MELA-AU 5 110466128 110466128 single base substitution C T 3_prime_UTR_variant MELA-AU 5 110466128 110466128 single base substitution C T downstream_gene_variant MELA-AU 5 110466915 110466915 single base substitution G A downstream_gene_variant MELA-AU 5 110467614 110467614 single base substitution T A downstream_gene_variant MELA-AU 5 110467709 110467709 single base substitution A T downstream_gene_variant MELA-AU 5 110467819 110467819 single base substitution T A downstream_gene_variant MELA-AU 5 110468082 110468082 single base substitution C T downstream_gene_variant MELA-AU 5 110468575 110468575 single base substitution G C downstream_gene_variant MELA-AU 5 110468612 110468612 single base substitution C T downstream_gene_variant MELA-AU 5 110468879 110468879 single base substitution C T downstream_gene_variant MELA-AU 5 110469060 110469060 single base substitution C T downstream_gene_variant MELA-AU 5 110469493 110469493 single base substitution C T downstream_gene_variant MELA-AU 5 110469533 110469533 single base substitution C T downstream_gene_variant MELA-AU 5 110469561 110469561 single base substitution G A downstream_gene_variant MELA-AU 5 110469564 110469564 single base substitution C T downstream_gene_variant MELA-AU 5 110469769 110469769 single base substitution C T downstream_gene_variant MELA-AU 5 110470458 110470458 single base substitution G A downstream_gene_variant MELA-AU 5 110470462 110470462 single base substitution C T downstream_gene_variant MELA-AU 5 110470701 110470701 single base substitution C T downstream_gene_variant MELA-AU 5 110470702 110470702 single base substitution C T downstream_gene_variant MELA-AU 5 110470823 110470823 single base substitution C T downstream_gene_variant OV-AU 5 110426290 110426290 single base substitution T G upstream_gene_variant OV-AU 5 110432843 110432843 single base substitution G A downstream_gene_variant OV-AU 5 110432843 110432843 single base substitution G A missense_variant G13E 38G>A OV-AU 5 110432843 110432843 single base substitution G A missense_variant G142E 425G>A OV-AU 5 110432843 110432843 single base substitution G A missense_variant G86E 257G>A OV-AU 5 110433385 110433385 single base substitution C G downstream_gene_variant OV-AU 5 110433385 110433385 single base substitution C G intron_variant OV-AU 5 110433448 110433448 single base substitution T C downstream_gene_variant OV-AU 5 110433448 110433448 single base substitution T C intron_variant OV-AU 5 110453961 110453961 single base substitution G A intron_variant OV-AU 5 110454636 110454636 single base substitution G A intron_variant OV-AU 5 110455633 110455633 single base substitution G C intron_variant OV-AU 5 110456091 110456091 single base substitution T A intron_variant OV-AU 5 110464275 110464275 single base substitution G A 3_prime_UTR_variant OV-AU 5 110464275 110464275 single base substitution G A downstream_gene_variant OV-AU 5 110468755 110468755 single base substitution T G downstream_gene_variant PACA-AU 5 110423065 110423065 single base substitution G A upstream_gene_variant PACA-AU 5 110431552 110431552 single base substitution T C downstream_gene_variant PACA-AU 5 110431552 110431552 single base substitution T C intron_variant PACA-AU 5 110431552 110431552 single base substitution T C upstream_gene_variant PACA-AU 5 110432651 110432651 single base substitution C T downstream_gene_variant PACA-AU 5 110432651 110432651 single base substitution C T intron_variant PACA-AU 5 110432651 110432651 single base substitution C T upstream_gene_variant PACA-AU 5 110434560 110434560 deletion of <=200bp G - downstream_gene_variant PACA-AU 5 110434560 110434560 deletion of <=200bp G - intron_variant PACA-AU 5 110439494 110439494 single base substitution G A missense_variant V130M 388G>A PACA-AU 5 110439494 110439494 single base substitution G A missense_variant V203M 607G>A PACA-AU 5 110439494 110439494 single base substitution G A missense_variant V259M 775G>A PACA-AU 5 110442595 110442595 deletion of <=200bp C - downstream_gene_variant PACA-AU 5 110442595 110442595 deletion of <=200bp C - intron_variant PACA-AU 5 110442962 110442962 single base substitution A T downstream_gene_variant PACA-AU 5 110442962 110442962 single base substitution A T intron_variant PACA-AU 5 110445799 110445799 single base substitution G C intron_variant PACA-AU 5 110458608 110458608 single base substitution G C intron_variant PACA-AU 5 110459987 110459987 single base substitution T A intron_variant PACA-AU 5 110463628 110463628 single base substitution T G 3_prime_UTR_variant PACA-AU 5 110463628 110463628 single base substitution T G downstream_gene_variant PACA-AU 5 110466307 110466307 single base substitution G A downstream_gene_variant PACA-AU 5 110468680 110468680 single base substitution T C downstream_gene_variant PACA-AU 5 110469180 110469180 single base substitution A T downstream_gene_variant PACA-AU 5 110470853 110470853 single base substitution G A downstream_gene_variant PACA-CA 5 110423498 110423498 single base substitution G T upstream_gene_variant PACA-CA 5 110424034 110424034 single base substitution G C upstream_gene_variant PACA-CA 5 110426351 110426351 single base substitution C T upstream_gene_variant PACA-CA 5 110431550 110431550 single base substitution G A downstream_gene_variant PACA-CA 5 110431550 110431550 single base substitution G A intron_variant PACA-CA 5 110431550 110431550 single base substitution G A upstream_gene_variant PACA-CA 5 110431559 110431559 single base substitution T A downstream_gene_variant PACA-CA 5 110431559 110431559 single base substitution T A intron_variant PACA-CA 5 110431559 110431559 single base substitution T A upstream_gene_variant PACA-CA 5 110438541 110438541 deletion of <=200bp T - intron_variant PACA-CA 5 110438899 110438899 single base substitution G A intron_variant PACA-CA 5 110442831 110442831 insertion of <=200bp - A downstream_gene_variant PACA-CA 5 110442831 110442831 insertion of <=200bp - A intron_variant PACA-CA 5 110445029 110445029 deletion of <=200bp T - intron_variant PACA-CA 5 110447601 110447601 single base substitution C A downstream_gene_variant PACA-CA 5 110447601 110447601 single base substitution C A intron_variant PACA-CA 5 110453307 110453307 single base substitution A G intron_variant PACA-CA 5 110454591 110454591 deletion of <=200bp A - intron_variant PACA-CA 5 110456593 110456593 single base substitution G A intron_variant PACA-CA 5 110457369 110457369 single base substitution G C intron_variant PACA-CA 5 110457594 110457594 single base substitution A G intron_variant PACA-CA 5 110457605 110457605 single base substitution C A intron_variant PACA-CA 5 110457947 110457947 single base substitution G C intron_variant PACA-CA 5 110459947 110459947 single base substitution G C intron_variant PACA-CA 5 110464848 110464848 single base substitution A C 3_prime_UTR_variant PACA-CA 5 110464848 110464848 single base substitution A C downstream_gene_variant PACA-CA 5 110465526 110465526 single base substitution C T 3_prime_UTR_variant PACA-CA 5 110465526 110465526 single base substitution C T downstream_gene_variant PACA-CA 5 110467004 110467004 single base substitution G A downstream_gene_variant PACA-CA 5 110467743 110467743 insertion of <=200bp - T downstream_gene_variant PACA-CA 5 110467911 110467911 single base substitution T A downstream_gene_variant PACA-CA 5 110468605 110468605 single base substitution T A downstream_gene_variant PAEN-AU 5 110442348 110442348 single base substitution C A downstream_gene_variant PAEN-AU 5 110442348 110442348 single base substitution C A intron_variant PAEN-AU 5 110446454 110446454 single base substitution G T intron_variant PAEN-AU 5 110456308 110456308 single base substitution A T intron_variant PAEN-AU 5 110461593 110461593 single base substitution C A intron_variant PAEN-IT 5 110426832 110426832 single base substitution G T upstream_gene_variant PAEN-IT 5 110439319 110439319 single base substitution G A intron_variant PAEN-IT 5 110446433 110446433 single base substitution G T intron_variant PBCA-DE 5 110447292 110447292 single base substitution G A downstream_gene_variant PBCA-DE 5 110447292 110447292 single base substitution G A intron_variant PBCA-DE 5 110449006 110449006 single base substitution G A downstream_gene_variant PBCA-DE 5 110449006 110449006 single base substitution G A intron_variant PBCA-DE 5 110452610 110452611 deletion of <=200bp CA - intron_variant PBCA-DE 5 110453053 110453053 single base substitution G A intron_variant PBCA-DE 5 110454818 110454818 single base substitution G T missense_variant W691L 2072G>T PBCA-DE 5 110459901 110459901 single base substitution T A intron_variant PBCA-DE 5 110463641 110463641 single base substitution G T 3_prime_UTR_variant PBCA-DE 5 110463641 110463641 single base substitution G T downstream_gene_variant PBCA-DE 5 110463766 110463766 single base substitution T G 3_prime_UTR_variant PBCA-DE 5 110463766 110463766 single base substitution T G downstream_gene_variant PBCA-DE 5 110465115 110465115 single base substitution G A 3_prime_UTR_variant PBCA-DE 5 110465115 110465115 single base substitution G A downstream_gene_variant PBCA-DE 5 110469564 110469564 single base substitution C A downstream_gene_variant PRAD-CA 5 110429241 110429241 single base substitution C T intron_variant PRAD-CA 5 110429241 110429241 single base substitution C T upstream_gene_variant PRAD-CA 5 110432630 110432630 single base substitution T G downstream_gene_variant PRAD-CA 5 110432630 110432630 single base substitution T G intron_variant PRAD-CA 5 110432630 110432630 single base substitution T G upstream_gene_variant PRAD-CA 5 110463831 110463831 single base substitution C T 3_prime_UTR_variant PRAD-CA 5 110463831 110463831 single base substitution C T downstream_gene_variant PRAD-CA 5 110469490 110469490 single base substitution T C downstream_gene_variant PRAD-CA 5 110470689 110470689 single base substitution G T downstream_gene_variant PRAD-UK 5 110425144 110425144 single base substitution G T upstream_gene_variant PRAD-UK 5 110437098 110437098 deletion of <=200bp T - intron_variant PRAD-UK 5 110443856 110443856 single base substitution T G downstream_gene_variant PRAD-UK 5 110443856 110443856 single base substitution T G intron_variant PRAD-UK 5 110447405 110447405 single base substitution A G downstream_gene_variant PRAD-UK 5 110447405 110447405 single base substitution A G intron_variant PRAD-UK 5 110458235 110458235 single base substitution T G intron_variant PRAD-UK 5 110461695 110461695 single base substitution A G intron_variant READ-US 5 110434450 110434450 single base substitution G T downstream_gene_variant READ-US 5 110434450 110434450 single base substitution G T stop_gained E108* 322G>T READ-US 5 110434450 110434450 single base substitution G T stop_gained E164* 490G>T READ-US 5 110434450 110434450 single base substitution G T stop_gained E35* 103G>T READ-US 5 110436330 110436330 single base substitution T C missense_variant I151T 452T>C READ-US 5 110436330 110436330 single base substitution T C missense_variant I207T 620T>C READ-US 5 110436330 110436330 single base substitution T C missense_variant I78T 233T>C RECA-EU 5 110426454 110426454 single base substitution G A upstream_gene_variant RECA-EU 5 110428355 110428355 single base substitution C A intron_variant RECA-EU 5 110428355 110428355 single base substitution C A upstream_gene_variant RECA-EU 5 110428946 110428946 single base substitution A G intron_variant RECA-EU 5 110428946 110428946 single base substitution A G upstream_gene_variant RECA-EU 5 110430893 110430893 single base substitution G T exon_variant RECA-EU 5 110430893 110430893 single base substitution G T intron_variant RECA-EU 5 110430893 110430893 single base substitution G T upstream_gene_variant RECA-EU 5 110431289 110431289 single base substitution C A downstream_gene_variant RECA-EU 5 110431289 110431289 single base substitution C A intron_variant RECA-EU 5 110431289 110431289 single base substitution C A upstream_gene_variant RECA-EU 5 110433842 110433842 single base substitution A C downstream_gene_variant RECA-EU 5 110433842 110433842 single base substitution A C intron_variant RECA-EU 5 110434814 110434814 single base substitution C T downstream_gene_variant RECA-EU 5 110434814 110434814 single base substitution C T intron_variant RECA-EU 5 110435063 110435063 single base substitution A G downstream_gene_variant RECA-EU 5 110435063 110435063 single base substitution A G intron_variant RECA-EU 5 110436770 110436770 single base substitution T G intron_variant RECA-EU 5 110449169 110449169 single base substitution C T downstream_gene_variant RECA-EU 5 110449169 110449169 single base substitution C T intron_variant RECA-EU 5 110455807 110455807 single base substitution C T intron_variant RECA-EU 5 110458549 110458549 single base substitution G C intron_variant RECA-EU 5 110463969 110463969 single base substitution C G 3_prime_UTR_variant RECA-EU 5 110463969 110463969 single base substitution C G downstream_gene_variant SKCA-BR 5 110424040 110424040 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 5 110424478 110424478 single base substitution C G upstream_gene_variant SKCA-BR 5 110424498 110424498 single base substitution T A upstream_gene_variant SKCA-BR 5 110424523 110424523 single base substitution C T upstream_gene_variant SKCA-BR 5 110424615 110424615 single base substitution C G upstream_gene_variant SKCA-BR 5 110426278 110426278 single base substitution C T upstream_gene_variant SKCA-BR 5 110426797 110426797 single base substitution A T upstream_gene_variant SKCA-BR 5 110432750 110432750 single base substitution T A 5_prime_UTR_variant SKCA-BR 5 110432750 110432750 single base substitution T A downstream_gene_variant SKCA-BR 5 110432750 110432750 single base substitution T A intron_variant SKCA-BR 5 110433235 110433235 single base substitution C T downstream_gene_variant SKCA-BR 5 110433235 110433235 single base substitution C T intron_variant SKCA-BR 5 110433916 110433916 single base substitution C T downstream_gene_variant SKCA-BR 5 110433916 110433916 single base substitution C T intron_variant SKCA-BR 5 110434034 110434034 single base substitution T G downstream_gene_variant SKCA-BR 5 110434034 110434034 single base substitution T G intron_variant SKCA-BR 5 110435139 110435164 deletion of <=200bp GTTTTTTTTTGTTTTTTTTTTTGTTT - downstream_gene_variant SKCA-BR 5 110435139 110435164 deletion of <=200bp GTTTTTTTTTGTTTTTTTTTTTGTTT - intron_variant SKCA-BR 5 110435149 110435149 single base substitution G T downstream_gene_variant SKCA-BR 5 110435149 110435149 single base substitution G T intron_variant SKCA-BR 5 110435770 110435770 single base substitution C T downstream_gene_variant SKCA-BR 5 110435770 110435770 single base substitution C T intron_variant SKCA-BR 5 110440332 110440332 single base substitution G A downstream_gene_variant SKCA-BR 5 110440332 110440332 single base substitution G A intron_variant SKCA-BR 5 110446455 110446455 insertion of <=200bp - AT intron_variant SKCA-BR 5 110448274 110448274 single base substitution C T downstream_gene_variant SKCA-BR 5 110448274 110448274 single base substitution C T intron_variant SKCA-BR 5 110448734 110448734 insertion of <=200bp - AATATAT downstream_gene_variant SKCA-BR 5 110448734 110448734 insertion of <=200bp - AATATAT intron_variant SKCA-BR 5 110448753 110448753 single base substitution T A downstream_gene_variant SKCA-BR 5 110448753 110448753 single base substitution T A intron_variant SKCA-BR 5 110448780 110448780 single base substitution G A downstream_gene_variant SKCA-BR 5 110448780 110448780 single base substitution G A missense_variant S631N 1892G>A SKCA-BR 5 110451793 110451793 single base substitution A T downstream_gene_variant SKCA-BR 5 110451793 110451793 single base substitution A T intron_variant SKCA-BR 5 110455107 110455107 single base substitution T C intron_variant SKCA-BR 5 110455646 110455646 single base substitution T C intron_variant SKCA-BR 5 110460735 110460735 single base substitution C T intron_variant SKCA-BR 5 110461108 110461108 single base substitution C T intron_variant SKCA-BR 5 110461880 110461880 single base substitution T C intron_variant SKCA-BR 5 110464491 110464491 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 110464491 110464491 single base substitution C T downstream_gene_variant SKCA-BR 5 110465593 110465593 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 110465593 110465593 single base substitution G A downstream_gene_variant SKCA-BR 5 110468850 110468850 single base substitution T A downstream_gene_variant SKCA-BR 5 110470572 110470572 single base substitution G A downstream_gene_variant SKCA-BR 5 110470700 110470700 single base substitution C T downstream_gene_variant SKCM-US 5 110428012 110428012 single base substitution G A missense_variant R9Q 26G>A SKCM-US 5 110428012 110428012 single base substitution G A upstream_gene_variant SKCM-US 5 110428013 110428013 single base substitution G A synonymous_variant R9R 27G>A SKCM-US 5 110428013 110428013 single base substitution G A upstream_gene_variant SKCM-US 5 110428092 110428092 single base substitution A G 5_prime_UTR_variant SKCM-US 5 110428092 110428092 single base substitution A G exon_variant SKCM-US 5 110428092 110428092 single base substitution A G missense_variant K36E 106A>G SKCM-US 5 110428092 110428092 single base substitution A G upstream_gene_variant SKCM-US 5 110439611 110439611 single base substitution C T downstream_gene_variant SKCM-US 5 110439611 110439611 single base substitution C T missense_variant R242C 724C>T SKCM-US 5 110439611 110439611 single base substitution C T missense_variant R298C 892C>T SKCM-US 5 110446899 110446899 single base substitution C T synonymous_variant F546F 1638C>T SKCM-US 5 110446899 110446899 single base substitution C T synonymous_variant F602F 1806C>T SKCM-US 5 110454763 110454763 single base substitution C T missense_variant P673S 2017C>T SKCM-US 5 110456205 110456205 single base substitution C T missense_variant S695F 2084C>T SKCM-US 5 110459516 110459516 single base substitution C T missense_variant P777L 2330C>T SKCM-US 5 110459595 110459595 single base substitution A T synonymous_variant A803A 2409A>T STAD-US 5 110436294 110436294 single base substitution A G missense_variant Y139C 416A>G STAD-US 5 110436294 110436294 single base substitution A G missense_variant Y195C 584A>G STAD-US 5 110436294 110436294 single base substitution A G missense_variant Y66C 197A>G STAD-US 5 110439999 110439999 single base substitution T G downstream_gene_variant STAD-US 5 110439999 110439999 single base substitution T G missense_variant F285C 854T>G STAD-US 5 110439999 110439999 single base substitution T G missense_variant F341C 1022T>G STAD-US 5 110440035 110440035 single base substitution C A downstream_gene_variant STAD-US 5 110440035 110440035 single base substitution C A missense_variant A297D 890C>A STAD-US 5 110440035 110440035 single base substitution C A missense_variant A353D 1058C>A STAD-US 5 110445966 110445966 single base substitution T C missense_variant S469P 1405T>C STAD-US 5 110445966 110445966 single base substitution T C missense_variant S525P 1573T>C STAD-US 5 110445992 110445992 single base substitution C T synonymous_variant G477G 1431C>T STAD-US 5 110445992 110445992 single base substitution C T synonymous_variant G533G 1599C>T STAD-US 5 110446870 110446870 single base substitution G A missense_variant G537S 1609G>A STAD-US 5 110446870 110446870 single base substitution G A missense_variant G593S 1777G>A STAD-US 5 110446959 110446959 single base substitution A C missense_variant Q566H 1698A>C STAD-US 5 110446959 110446959 single base substitution A C missense_variant Q622H 1866A>C STAD-US 5 110462497 110462497 single base substitution G T missense_variant Q924H 2772G>T THCA-SA 5 110432820 110432820 single base substitution C T downstream_gene_variant THCA-SA 5 110432820 110432820 single base substitution C T synonymous_variant G134G 402C>T THCA-SA 5 110432820 110432820 single base substitution C T synonymous_variant G5G 15C>T THCA-SA 5 110432820 110432820 single base substitution C T synonymous_variant G78G 234C>T THCA-SA 5 110436345 110436345 single base substitution A C missense_variant H156P 467A>C THCA-SA 5 110436345 110436345 single base substitution A C missense_variant H212P 635A>C THCA-SA 5 110436345 110436345 single base substitution A C missense_variant H83P 248A>C THCA-SA 5 110436346 110436346 single base substitution T C synonymous_variant H156H 468T>C THCA-SA 5 110436346 110436346 single base substitution T C synonymous_variant H212H 636T>C THCA-SA 5 110436346 110436346 single base substitution T C synonymous_variant H83H 249T>C THCA-SA 5 110439509 110439509 single base substitution A G missense_variant I135V 403A>G THCA-SA 5 110439509 110439509 single base substitution A G missense_variant I208V 622A>G THCA-SA 5 110439509 110439509 single base substitution A G missense_variant I264V 790A>G THCA-SA 5 110456704 110456704 single base substitution A T synonymous_variant V727V 2181A>T THCA-SA 5 110463685 110463685 single base substitution G A 3_prime_UTR_variant THCA-SA 5 110463685 110463685 single base substitution G A downstream_gene_variant THCA-SA 5 110464008 110464008 single base substitution T C 3_prime_UTR_variant THCA-SA 5 110464008 110464008 single base substitution T C downstream_gene_variant UCEC-US 5 110427980 110427980 single base substitution G T 5_prime_UTR_variant UCEC-US 5 110427980 110427980 single base substitution G T upstream_gene_variant UCEC-US 5 110427985 110427985 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 5 110427985 110427985 single base substitution T G upstream_gene_variant UCEC-US 5 110428092 110428092 single base substitution A T 5_prime_UTR_variant UCEC-US 5 110428092 110428092 single base substitution A T exon_variant UCEC-US 5 110428092 110428092 single base substitution A T stop_gained K36* 106A>T UCEC-US 5 110428092 110428092 single base substitution A T upstream_gene_variant UCEC-US 5 110428150 110428150 single base substitution C T 5_prime_UTR_variant UCEC-US 5 110428150 110428150 single base substitution C T exon_variant UCEC-US 5 110428150 110428150 single base substitution C T missense_variant A55V 164C>T UCEC-US 5 110428150 110428150 single base substitution C T upstream_gene_variant UCEC-US 5 110438070 110438070 single base substitution G A stop_gained W117* 350G>A UCEC-US 5 110438070 110438070 single base substitution G A stop_gained W190* 569G>A UCEC-US 5 110438070 110438070 single base substitution G A stop_gained W246* 737G>A UCEC-US 5 110439559 110439559 single base substitution A C missense_variant E151D 453A>C UCEC-US 5 110439559 110439559 single base substitution A C missense_variant E224D 672A>C UCEC-US 5 110439559 110439559 single base substitution A C missense_variant E280D 840A>C UCEC-US 5 110439575 110439575 single base substitution C T downstream_gene_variant UCEC-US 5 110439575 110439575 single base substitution C T missense_variant R230C 688C>T UCEC-US 5 110439575 110439575 single base substitution C T missense_variant R286C 856C>T UCEC-US 5 110439580 110439580 single base substitution A G downstream_gene_variant UCEC-US 5 110439580 110439580 single base substitution A G synonymous_variant Q231Q 693A>G UCEC-US 5 110439580 110439580 single base substitution A G synonymous_variant Q287Q 861A>G UCEC-US 5 110439612 110439612 single base substitution G A downstream_gene_variant UCEC-US 5 110439612 110439612 single base substitution G A missense_variant R242H 725G>A UCEC-US 5 110439612 110439612 single base substitution G A missense_variant R298H 893G>A UCEC-US 5 110440993 110440993 single base substitution G T downstream_gene_variant UCEC-US 5 110440993 110440993 single base substitution G T splice_acceptor_variant UCEC-US 5 110441003 110441003 single base substitution G A downstream_gene_variant UCEC-US 5 110441003 110441003 single base substitution G A missense_variant G346E 1037G>A UCEC-US 5 110441003 110441003 single base substitution G A missense_variant G402E 1205G>A UCEC-US 5 110441018 110441018 single base substitution T G downstream_gene_variant UCEC-US 5 110441018 110441018 single base substitution T G missense_variant F351C 1052T>G UCEC-US 5 110441018 110441018 single base substitution T G missense_variant F407C 1220T>G UCEC-US 5 110441782 110441782 single base substitution C T downstream_gene_variant UCEC-US 5 110441782 110441782 single base substitution C T missense_variant R374C 1120C>T UCEC-US 5 110441782 110441782 single base substitution C T missense_variant R430C 1288C>T UCEC-US 5 110443024 110443024 single base substitution C A downstream_gene_variant UCEC-US 5 110443024 110443024 single base substitution C A synonymous_variant I404I 1212C>A UCEC-US 5 110443024 110443024 single base substitution C A synonymous_variant I460I 1380C>A UCEC-US 5 110443080 110443080 single base substitution C T downstream_gene_variant UCEC-US 5 110443080 110443080 single base substitution C T missense_variant T423I 1268C>T UCEC-US 5 110443080 110443080 single base substitution C T missense_variant T479I 1436C>T UCEC-US 5 110443088 110443088 single base substitution G T downstream_gene_variant UCEC-US 5 110443088 110443088 single base substitution G T missense_variant A426S 1276G>T UCEC-US 5 110443088 110443088 single base substitution G T missense_variant A482S 1444G>T UCEC-US 5 110446514 110446514 single base substitution C T missense_variant A490V 1469C>T UCEC-US 5 110446514 110446514 single base substitution C T missense_variant A546V 1637C>T UCEC-US 5 110446590 110446590 single base substitution A C missense_variant K515N 1545A>C UCEC-US 5 110446590 110446590 single base substitution A C missense_variant K571N 1713A>C UCEC-US 5 110446632 110446632 single base substitution C A synonymous_variant I529I 1587C>A UCEC-US 5 110446632 110446632 single base substitution C A synonymous_variant I585I 1755C>A UCEC-US 5 110446885 110446885 single base substitution G A missense_variant A542T 1624G>A UCEC-US 5 110446885 110446885 single base substitution G A missense_variant A598T 1792G>A UCEC-US 5 110456751 110456751 single base substitution C T missense_variant S743L 2228C>T UCEC-US 5 110456794 110456794 single base substitution T C synonymous_variant L757L 2271T>C UCEC-US 5 110461356 110461356 single base substitution A G missense_variant T857A 2569A>G UCEC-US 5 110461365 110461365 single base substitution C T stop_gained R860* 2578C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A0K4-01 COSM1059465 c.737G>A p.W246* Substitution - Nonsense 5:111102371-111102371 + T578 COSM4740950 c.317T>C p.F106S Substitution - Missense 5:111092605-111092605 + PR-00-1165 COSM248321 c.1288C>T p.R430C Substitution - Missense 5:111106083-111106083 + TCGA-ER-A193-06 COSM1432093 c.892C>T p.R298C Substitution - Missense 5:111103912-111103912 + TCGA-ER-A19S-06 COSM3607508 c.106A>G p.K36E Substitution - Missense 5:111092394-111092394 + LUAD-B00915 COSM332972 c.2003A>T p.N668I Substitution - Missense 5:111119051-111119051 + TCGA-AP-A0LM-01 COSM1059467 c.856C>T p.R286C Substitution - Missense 5:111103876-111103876 + TCGA-EB-A4IS-01 COSM3607511 c.2330C>T p.P777L Substitution - Missense 5:111123818-111123818 + AOCS-090-1-0 COSM4141367 c.425G>A p.G142E Substitution - Missense 5:111097145-111097145 + PTC_520 COSM4159352 c.2181A>T p.V727V Substitution - coding silent 5:111121006-111121006 + PD9415a COSM1059468 c.857G>A p.R286H Substitution - Missense 5:111103877-111103877 + TCGA-AP-A0LM-01 COSM1059471 c.1196-1G>T p.? Unknown 5:111105294-111105294 + TCGA-AP-A056-01 COSM1059472 c.1205G>A p.G402E Substitution - Missense 5:111105304-111105304 + TCGA-D1-A17H-01 COSM1059476 c.1444G>T p.A482S Substitution - Missense 5:111107389-111107389 + LIM1215 COSM4639531 c.194C>A p.T65K Substitution - Missense 5:111092482-111092482 + PT49 COSM5935070 c.1735C>T p.L579F Substitution - Missense 5:111110913-111110913 + 08-P1004 COSM4585327 c.900T>C p.D300D Substitution - coding silent 5:111104178-111104178 + TCGA-DR-A0ZM-01 COSM462100 c.1822G>C p.D608H Substitution - Missense 5:111111216-111111216 + TCGA-EE-A183-06 COSM3607510 c.2084C>T p.S695F Substitution - Missense 5:111120507-111120507 + 250LT COSM4381984 c.718C>G p.L240V Substitution - Missense 5:111102352-111102352 + C086 COSM5541710 c.2279C>T p.S760L Substitution - Missense 5:111121104-111121104 + SW620 COSM2990728 c.1578C>T p.G526G Substitution - coding silent 5:111110272-111110272 + TCGA-AA-A010-01 COSM286506 c.83G>T p.R28M Substitution - Missense 5:111092371-111092371 + TCGA-66-2787-01 COSM735101 c.2653G>A p.D885N Substitution - Missense 5:111125742-111125742 + 224 COSM4425675 c.1066G>A p.A356T Substitution - Missense 5:111104344-111104344 + TCGA-AA-A00J-01 COSM298409 c.1885G>A p.A629T Substitution - Missense 5:111113074-111113074 + TCGA-A3-3346-01 COSM1495874 c.1036C>A p.P346T Substitution - Missense 5:111104314-111104314 + T407 COSM4740949 c.102G>A p.T34T Substitution - coding silent 5:111092390-111092390 + CHC1137T COSM4803152 c.15G>A p.E5E Substitution - coding silent 5:111092303-111092303 + LUAD-CHTN-MAD06-00668 COSM360056 c.273G>T p.A91A Substitution - coding silent 5:111092561-111092561 + T3080 COSM3661314 c.545G>A p.G182D Substitution - Missense 5:111098807-111098807 + HCC1T COSM1619312 c.676C>A p.Q226K Substitution - Missense 5:111100687-111100687 + RMS110_ COSM4987281 c.1973A>G p.D658G Substitution - Missense 5:111119021-111119021 + T2950 COSM4740951 c.566T>C p.I189T Substitution - Missense 5:111098828-111098828 + TCGA-AA-3530-01 COSM291899 c.42G>T p.Q14H Substitution - Missense 5:111092330-111092330 + TCGA-IR-A3LH-01 COSM4832520 c.131C>G p.S44* Substitution - Nonsense 5:111092419-111092419 + TCGA-BQ-5884-01 COSM3993892 c.281G>T p.R94L Substitution - Missense 5:111092569-111092569 + CHC1598T COSM4788907 c.1959T>A p.S653S Substitution - coding silent 5:111113148-111113148 + TCGA-A2-A4RW-01 COSM3826540 c.1678G>T p.E560* Substitution - Nonsense 5:111110856-111110856 + sysucc-1370T COSM1541314 c.1289G>A p.R430H Substitution - Missense 5:111106084-111106084 + TCGA-D1-A17Q-01 COSM1059485 c.2569A>G p.T857A Substitution - Missense 5:111125658-111125658 + TCGA-EE-A2GC-06 COSM3607506 c.26G>A p.R9Q Substitution - Missense 5:111092314-111092314 + TCGA-G4-6628-01 COSM1432098 c.1992G>A p.S664S Substitution - coding silent 5:111119040-111119040 + TCGA-CM-5861-01 COSM1432091 c.123T>C p.C41C Substitution - coding silent 5:111092411-111092411 + PT48 COSM5931785 c.577+5G>A p.? Unknown 5:111098844-111098844 + TCGA-DC-4749-01 COSM3428814 c.620T>C p.I207T Substitution - Missense 5:111100631-111100631 + LIM2551 COSM4614019 c.970delT p.L324fs*1 Deletion - Frameshift 5:111104248-111104248 + YUQUEST COSM1059467 c.856C>T p.R286C Substitution - Missense 5:111103876-111103876 + YURAY COSM5401916 c.2102C>T p.S701L Substitution - Missense 5:111120525-111120525 + T5 COSM1186807 c.775G>A p.V259M Substitution - Missense 5:111103795-111103795 + RK282_C01 COSM4964054 c.293T>C p.V98A Substitution - Missense 5:111092581-111092581 + CHC1137T COSM4803160 c.16G>T p.G6C Substitution - Missense 5:111092304-111092304 + HCC28T COSM1619313 c.1776-5G>A p.? Unknown 5:111111165-111111165 + TCGA-DK-A3IU-01 COSM3776103 c.1102G>A p.E368K Substitution - Missense 5:111104724-111104724 + ESO-122 COSM1270393 c.2457A>C p.G819G Substitution - coding silent 5:111124128-111124128 + PT55 COSM4475521 c.1996C>T p.P666S Substitution - Missense 5:111119044-111119044 + PD5946a COSM5774653 c.2631G>C p.L877F Substitution - Missense 5:111125720-111125720 + TCGA-EK-A2PL-01 COSM4838310 c.1087G>C p.D363H Substitution - Missense 5:111104709-111104709 + CHC2206T COSM4956947 c.1528G>C p.V510L Substitution - Missense 5:111110222-111110222 + ESCC_BICR_016T COSM5439583 c.2773G>T p.V925L Substitution - Missense 5:111126800-111126800 + TCGA-BS-A0UM-01 COSM1059463 c.164C>T p.A55V Substitution - Missense 5:111092452-111092452 + TCGA-AX-A063-01 COSM1059469 c.861A>G p.Q287Q Substitution - coding silent 5:111103881-111103881 + TCGA-60-2722-01 COSM735102 c.1449C>G p.Y483* Substitution - Nonsense 5:111107394-111107394 + PT13 COSM5895793 c.2768C>T p.S923F Substitution - Missense 5:111126795-111126795 + TCGA-D1-A16Y-01 COSM1059474 c.1380C>A p.I460I Substitution - coding silent 5:111107325-111107325 + T3080 COSM4740952 c.864C>T p.D288D Substitution - coding silent 5:111103884-111103884 + TCGA-CG-5721-01 COSM4127066 c.1599C>T p.G533G Substitution - coding silent 5:111110293-111110293 + B64 COSM1753907 c.1742C>T p.S581L Substitution - Missense 5:111110920-111110920 + HX35T COSM1619313 c.1776-5G>A p.? Unknown 5:111111165-111111165 + TCGA-A5-A0GI-01 COSM1059486 c.2578C>T p.R860* Substitution - Nonsense 5:111125667-111125667 + Pat_59_B COSM5867026 c.1555G>A p.D519N Substitution - Missense 5:111110249-111110249 + CHC1743T COSM4805600 c.1936A>G p.I646V Substitution - Missense 5:111113125-111113125 + TCGA-HU-A4H4-01 COSM4127062 c.584A>G p.Y195C Substitution - Missense 5:111100595-111100595 + J90_T COSM3946737 c.1372G>T p.D458Y Substitution - Missense 5:111107317-111107317 + TCGA-18-3409-01 COSM735104 c.127C>T p.P43S Substitution - Missense 5:111092415-111092415 + CSCC-10-T COSM4471580 c.1727C>T p.S576F Substitution - Missense 5:111110905-111110905 + HCC1 COSM1619312 c.676C>A p.Q226K Substitution - Missense 5:111100687-111100687 + ESO-083 COSM1059481 c.1792G>A p.A598T Substitution - Missense 5:111111186-111111186 + TCGA-FW-A3R5-06 COSM3918439 c.2017C>T p.P673S Substitution - Missense 5:111119065-111119065 + PD6757a COSM1637932 c.1572G>T p.Q524H Substitution - Missense 5:111110266-111110266 + BD72T COSM5512140 c.2171-10delT p.? Unknown 5:111120986-111120986 + CSCC-11-T COSM4475521 c.1996C>T p.P666S Substitution - Missense 5:111119044-111119044 + C70 COSM4619582 c.1934C>G p.S645C Substitution - Missense 5:111113123-111113123 + CSCC-60-T COSM4478724 c.2260C>T p.L754F Substitution - Missense 5:111121085-111121085 + Pat_41_B COSM5867029 c.2494_2496delGAA p.E833delE Deletion - In frame 5:111124165-111124167 + 1_PRE-TREATMENT COSM1720980 c.651G>A p.L217L Substitution - coding silent 5:111100662-111100662 + TCGA-AP-A059-01 COSM248321 c.1288C>T p.R430C Substitution - Missense 5:111106083-111106083 + SC_9005 COSM5559972 c.2214G>C p.L738F Substitution - Missense 5:111121039-111121039 + TCGA-BS-A0TC-01 COSM1059473 c.1220T>G p.F407C Substitution - Missense 5:111105319-111105319 + HCC70T COSM1619311 c.627A>G p.A209A Substitution - coding silent 5:111100638-111100638 + PT13 COSM5895792 c.2363C>T p.P788L Substitution - Missense 5:111123851-111123851 + RD COSM4989800 c.1064A>G p.N355S Substitution - Missense 5:111104342-111104342 + HN_63114 COSM121136 c.114G>C p.L38L Substitution - coding silent 5:111092402-111092402 + CHC1598T COSM4788907 c.1959T>A p.S653S Substitution - coding silent 5:111113148-111113148 + 3885 COSM5043651 c.2233G>A p.E745K Substitution - Missense 5:111121058-111121058 + 169 COSM1432098 c.1992G>A p.S664S Substitution - coding silent 5:111119040-111119040 + TCGA-AG-3909-01 COSM289189 c.60G>T p.V20V Substitution - coding silent 5:111092348-111092348 + LAU63 COSM234148 c.2073-3C>T p.? Unknown 5:111120493-111120493 + 234 COSM3730938 c.2645T>C p.M882T Substitution - Missense 5:111125734-111125734 + TCGA-CG-4306-01 COSM4127067 c.1777G>A p.G593S Substitution - Missense 5:111111171-111111171 + CHC1738T COSM5347271 c.2436+6_2436+12delAAACAAA p.? Unknown 5:111123930-111123936 + 587376 COSM1232581 c.2075C>T p.S692F Substitution - Missense 5:111120498-111120498 + TCGA-04-1342-01 COSM73277 c.1756A>G p.M586V Substitution - Missense 5:111110934-111110934 + TCGA-CG-5721-01 COSM4127069 c.2772G>T p.Q924H Substitution - Missense 5:111126799-111126799 + T3064 COSM2990711 c.774C>T p.A258A Substitution - coding silent 5:111103794-111103794 + TCGA-18-4083-01 COSM735103 c.965A>G p.K322R Substitution - Missense 5:111104243-111104243 + TCGA-B5-A0JV-01 COSM1059468 c.857G>A p.R286H Substitution - Missense 5:111103877-111103877 + sysucc-274T COSM5476549 c.1312T>C p.S438P Substitution - Missense 5:111106107-111106107 + Pat_32_A COSM5867028 c.1951C>T p.L651F Substitution - Missense 5:111113140-111113140 + TCGA-A8-A08R-01 COSM448422 c.1606C>G p.Q536E Substitution - Missense 5:111110300-111110300 + CHC1747T COSM4788126 c.1043T>C p.L348P Substitution - Missense 5:111104321-111104321 + I2L-P19Tb-Tumor-Organoid COSM5356629 c.2085C>A p.S695S Substitution - coding silent 5:111120508-111120508 + CHC1747T COSM4788126 c.1043T>C p.L348P Substitution - Missense 5:111104321-111104321 + TCGA-BG-A0MG-01 COSM1059462 c.106A>T p.K36* Substitution - Nonsense 5:111092394-111092394 + TCGA-FS-A4FC-06 COSM3607507 c.27G>A p.R9R Substitution - coding silent 5:111092315-111092315 + 91T COSM109532 c.1894C>T p.P632S Substitution - Missense 5:111113083-111113083 + TCGA-EE-A17X-06 COSM3607509 c.1806C>T p.F602F Substitution - coding silent 5:111111200-111111200 + EKVX COSM1671798 c.2540T>C p.L847P Substitution - Missense 5:111125629-111125629 + TCGA-G4-6304-01 COSM1432092 c.487G>A p.A163T Substitution - Missense 5:111098749-111098749 + B65 COSM1753906 c.1628G>A p.R543K Substitution - Missense 5:111110806-111110806 + TCGA-AA-3693-01 COSM293350 c.262C>A p.R88R Substitution - coding silent 5:111092550-111092550 + ESO-119 COSM1270392 c.9C>A p.C3* Substitution - Nonsense 5:111092297-111092297 + I2L-P19Tb-Tumor-Biopsy COSM5356629 c.2085C>A p.S695S Substitution - coding silent 5:111120508-111120508 + TCGA-B5-A11E-01 COSM1059466 c.840A>C p.E280D Substitution - Missense 5:111103860-111103860 + HCT116 COSM4612459 c.2468delA p.K824fs*6 Deletion - Frameshift 5:111124139-111124139 + PT42 COSM5925233 c.2606C>T p.S869F Substitution - Missense 5:111125695-111125695 + 8031704 COSM1186807 c.775G>A p.V259M Substitution - Missense 5:111103795-111103795 + DN111A9 COSM5783565 c.1702T>C p.F568L Substitution - Missense 5:111110880-111110880 + TCGA-DK-A2I6-01 COSM1310432 c.1574C>T p.S525F Substitution - Missense 5:111110268-111110268 + Pat_40_A COSM5867025 c.928C>T p.P310S Substitution - Missense 5:111104206-111104206 + CHC2206T COSM4956947 c.1528G>C p.V510L Substitution - Missense 5:111110222-111110222 + TCGA-BL-A3JM-01 COSM1310431 c.1223C>T p.S408F Substitution - Missense 5:111105322-111105322 + ESCC_3 COSM5622641 c.219C>T p.F73F Substitution - coding silent 5:111092507-111092507 + TCGA-CG-4305-01 COSM4127064 c.1058C>A p.A353D Substitution - Missense 5:111104336-111104336 + TCGA-DK-A1A7-01 COSM420455 c.2513A>T p.N838I Substitution - Missense 5:111124184-111124184 + S02401 COSM5700060 c.1480G>C p.D494H Substitution - Missense 5:111107425-111107425 + DLD1 COSM4625380 c.718C>A p.L240I Substitution - Missense 5:111102352-111102352 + 2521243 COSM3607506 c.26G>A p.R9Q Substitution - Missense 5:111092314-111092314 + 587376 COSM1232580 c.1085T>G p.F362C Substitution - Missense 5:111104707-111104707 + TCGA-CA-6717-01 COSM1432094 c.1431A>C p.K477N Substitution - Missense 5:111107376-111107376 + TCGA-BP-5198-01 COSM481742 c.548T>G p.I183S Substitution - Missense 5:111098810-111098810 + 66 COSM5743077 c.133G>T p.G45* Substitution - Nonsense 5:111092421-111092421 + HCC9 COSM3661314 c.545G>A p.G182D Substitution - Missense 5:111098807-111098807 + TCGA-B0-5707-01 COSM481741 c.223G>T p.A75S Substitution - Missense 5:111092511-111092511 + HCC28 COSM1619313 c.1776-5G>A p.? Unknown 5:111111165-111111165 + TCGA-AZ-4315-01 COSM1432093 c.892C>T p.R298C Substitution - Missense 5:111103912-111103912 + TCGA-BR-4362-01 COSM4127063 c.1022T>G p.F341C Substitution - Missense 5:111104300-111104300 + HCC014T COSM5814492 c.1971A>G p.I657M Substitution - Missense 5:111119019-111119019 + TCGA-BP-4969-01 COSM1495873 c.1842T>A p.I614I Substitution - coding silent 5:111111236-111111236 + PD13605a COSM5783565 c.1702T>C p.F568L Substitution - Missense 5:111110880-111110880 + TCGA-AX-A05Z-01 COSM1059480 c.1755C>A p.I585I Substitution - coding silent 5:111110933-111110933 + HCC9T COSM3661314 c.545G>A p.G182D Substitution - Missense 5:111098807-111098807 + RK083_C01 COSM1633881 c.2681A>T p.Q894L Substitution - Missense 5:111125770-111125770 + LUAD-F00282 COSM367382 c.775G>T p.V259L Substitution - Missense 5:111103795-111103795 + ODG11 COSM5731528 c.1151A>G p.N384S Substitution - Missense 5:111104773-111104773 + TCGA-EE-A2MS-06 COSM3607512 c.2409A>T p.A803A Substitution - coding silent 5:111123897-111123897 + CHC1743T COSM4805600 c.1936A>G p.I646V Substitution - Missense 5:111113125-111113125 + U031 COSM1683071 c.1793C>A p.A598D Substitution - Missense 5:111111187-111111187 + 2521252 COSM5888892 c.44G>A p.R15Q Substitution - Missense 5:111092332-111092332 + S02273 COSM5682074 c.2308G>T p.V770F Substitution - Missense 5:111121133-111121133 + TCGA-A3-3311-01 COSM1137224 c.242A>T p.N81I Substitution - Missense 5:111092530-111092530 + PCA78-2 COSM5415725 c.1129G>T p.G377C Substitution - Missense 5:111104751-111104751 + PT21_2 COSM3607506 c.26G>A p.R9Q Substitution - Missense 5:111092314-111092314 + TCGA-HU-A4H3-01 COSM4127068 c.1866A>C p.Q622H Substitution - Missense 5:111111260-111111260 + B105-0-Tumor COSM1753905 c.52G>A p.E18K Substitution - Missense 5:111092340-111092340 + CHC1137T COSM4803160 c.16G>T p.G6C Substitution - Missense 5:111092304-111092304 + TCGA-AP-A059-01 COSM1059475 c.1436C>T p.T479I Substitution - Missense 5:111107381-111107381 + CHC1137T COSM4803152 c.15G>A p.E5E Substitution - coding silent 5:111092303-111092303 + TCGA-A5-A0GP-01 COSM1059481 c.1792G>A p.A598T Substitution - Missense 5:111111186-111111186 + TCGA-A8-A086-01 COSM448423 c.2790C>A p.T930T Substitution - coding silent 5:111126817-111126817 + HCC77 COSM1619314 c.2316+7A>G p.? Unknown 5:111121148-111121148 + TCGA-AX-A0J0-01 COSM1059479 c.1713A>C p.K571N Substitution - Missense 5:111110891-111110891 + 413 COSM4431218 c.739A>G p.K247E Substitution - Missense 5:111102373-111102373 + TCGA-BK-A0C9-01 COSM1059464 c.593T>C p.L198S Substitution - Missense 5:111100604-111100604 + B65-Tumor COSM1753906 c.1628G>A p.R543K Substitution - Missense 5:111110806-111110806 + B105-0 COSM1753905 c.52G>A p.E18K Substitution - Missense 5:111092340-111092340 + 1_RESISTANT COSM1720980 c.651G>A p.L217L Substitution - coding silent 5:111100662-111100662 + 587234 COSM1232579 c.1105G>T p.G369C Substitution - Missense 5:111104727-111104727 + HCC70 COSM1619311 c.627A>G p.A209A Substitution - coding silent 5:111100638-111100638 + TCGA-A5-A0GH-01 COSM1059478 c.1637C>T p.A546V Substitution - Missense 5:111110815-111110815 + TCGA-EK-A2RA-01 COSM4848360 c.1351G>A p.E451K Substitution - Missense 5:111107296-111107296 + TCGA-F5-6814-01 COSM3428813 c.490G>T p.E164* Substitution - Nonsense 5:111098752-111098752 + 036T COSM1728715 c.2288A>G p.K763R Substitution - Missense 5:111121113-111121113 + TCGA-DK-A3IT-01 COSM1310430 c.151G>C p.A51P Substitution - Missense 5:111092439-111092439 + HCC77T COSM1619314 c.2316+7A>G p.? Unknown 5:111121148-111121148 + YUKLAB COSM1696027 c.1141C>T p.P381S Substitution - Missense 5:111104763-111104763 + pfg008T COSM1642552 c.1264T>C p.L422L Substitution - coding silent 5:111106059-111106059 + HN_62814 COSM130196 c.184G>C p.E62Q Substitution - Missense 5:111092472-111092472 + TCGA-CA-6718-01 COSM1432099 c.2749G>T p.E917* Substitution - Nonsense 5:111126776-111126776 + TCGA-D1-A17Q-01 COSM1059479 c.1713A>C p.K571N Substitution - Missense 5:111110891-111110891 + LIM1215 COSM4343886 c.1180C>T p.Q394* Substitution - Nonsense 5:111104802-111104802 + TCGA-FV-A3I1-01 COSM4929266 c.2156C>A p.T719N Substitution - Missense 5:111120579-111120579 + tumor_4159421 COSM5946695 c.1262-5C>G p.? Unknown 5:111106052-111106052 + C141 COSM4441504 c.1696T>C p.W566R Substitution - Missense 5:111110874-111110874 + TCGA-AP-A051-01 COSM1059484 c.2271T>C p.L757L Substitution - coding silent 5:111121096-111121096 + TCGA-AP-A056-01 COSM1059470 c.893G>A p.R298H Substitution - Missense 5:111103913-111103913 + LC_C8 COSM1186807 c.775G>A p.V259M Substitution - Missense 5:111103795-111103795 + TCGA-FD-A3B3-01 COSM1310433 c.2808C>T p.F936F Substitution - coding silent 5:111126835-111126835 + BK0001 COSM3993892 c.281G>T p.R94L Substitution - Missense 5:111092569-111092569 + 46M COSM5589352 c.1809C>T p.S603S Substitution - coding silent 5:111111203-111111203 + LUAD-S01478 COSM399976 c.940A>G p.I314V Substitution - Missense 5:111104218-111104218 + RKO COSM2990743 c.2229G>A p.S743S Substitution - coding silent 5:111121054-111121054 + TCGA-EW-A1J5-01 COSM1486203 c.2068C>G p.L690V Substitution - Missense 5:111119116-111119116 + LP6005334-DNA_E03 COSM4412969 c.1950C>G p.D650E Substitution - Missense 5:111113139-111113139 + TCGA-A5-A0G3-01 COSM1059482 c.1798G>A p.D600N Substitution - Missense 5:111111192-111111192 + Pat_63_B COSM5867027 c.1577G>A p.G526D Substitution - Missense 5:111110271-111110271 + B64-Tumor COSM1753907 c.1742C>T p.S581L Substitution - Missense 5:111110920-111110920 + TCGA-B5-A0K2-01 COSM1059477 c.1582C>T p.H528Y Substitution - Missense 5:111110276-111110276 + RK305_C01 COSM4779420 c.128C>T p.P43L Substitution - Missense 5:111092416-111092416 + PTC-7C COSM4159352 c.2181A>T p.V727V Substitution - coding silent 5:111121006-111121006 + CADO-ES1 COSM2990701 c.446C>T p.A149V Substitution - Missense 5:111097166-111097166 + PT27 COSM3607510 c.2084C>T p.S695F Substitution - Missense 5:111120507-111120507 + YUKLAB COSM1696026 c.875T>C p.I292T Substitution - Missense 5:111103895-111103895 + ESCC_73 COSM5634586 c.698A>T p.N233I Substitution - Missense 5:111100709-111100709 + LUAD-NYU704 COSM376201 c.610G>A p.V204I Substitution - Missense 5:111100621-111100621 + TCGA-BR-8680-01 COSM4127065 c.1573T>C p.S525P Substitution - Missense 5:111110267-111110267 + LUAD-F00089 COSM339832 c.1371G>C p.W457C Substitution - Missense 5:111107316-111107316 + 585208 COSM326873 c.424G>T p.G142* Substitution - Nonsense 5:111097144-111097144 + LP6007523-DNA_A01 COSM5037353 c.903T>G p.G301G Substitution - coding silent 5:111104181-111104181 + LUAD-CHTN-Z4716A COSM362351 c.2357C>T p.S786L Substitution - Missense 5:111123845-111123845 + ESCC_117 COSM1696026 c.875T>C p.I292T Substitution - Missense 5:111103895-111103895 + TCGA-UB-A7MB-01 COSM4931847 c.331-2A>T p.? Unknown 5:111094918-111094918 + TCGA-D1-A17Q-01 COSM1059483 c.2228C>T p.S743L Substitution - Missense 5:111121053-111121053 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.533222;Hs.533237 5q22.1 609669

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G819G c.2457A>C 5 110459826 ESCA A G Missense p.I646V c.1936A>G 5 110448824 HNSC A G Missense p.K322R c.965A>G 5 110439942 LUSC A G Missense p.K36E c.106A>G 5 110428092 CM A G Missense p.K814E c.2440A>G 5 110459809 LUAD A G Missense p.M586V c.1756A>G 5 110446633 OV A G Missense p.M642V c.1924A>G 5 110448812 LUAD A G Synonymous p.Q287Q c.861A>G 5 110439580 UCEC A T Missense p.D12V c.35A>T 5 110428021 CM A T Missense p.K93M c.278A>T 5 110428264 LUAD A T Missense p.N81I c.242A>T 5 110428228 RCCC A T Missense p.N838I c.2513A>T 5 110459882 BLCA A T Missense p.Q894L c.2681A>T 5 110461468 HC A T Nonsense p.K36* c.106A>T 5 110428092 UCEC A T Synonymous p.A803A c.2409A>T 5 110459595 CM A T Synonymous p.G392G c.1176A>T 5 110440497 LUAD C A Missense p.A353D c.1058C>A 5 110440035 STAD C A Nonsense p.C3* c.9C>A 5 110427995 ESCA C A Synonymous p.I460I c.1380C>A 5 110443024 UCEC C A Synonymous p.R88R c.262C>A 5 110428248 COREAD C A Synonymous p.T930T c.2790C>A 5 110462515 BRCA C G Missense p.Q536E c.1606C>G 5 110445999 BRCA C G Nonsense p.Y483* c.1449C>G 5 110443093 LUSC C T 5-UTRSNV . c.1-26C>T 5 110427961 CM C T Missense p.A546V c.1637C>T 5 110446514 UCEC C T Missense p.A55V c.164C>T 5 110428150 UCEC C T Missense p.H343Y c.1027C>T 5 110440004 CM C T Missense p.L342F c.1024C>T 5 110440001 CM C T Missense p.P310S c.928C>T 5 110439905 CM C T Missense p.P912L c.2735C>T 5 110462460 LUAD C T Missense p.R298C c.892C>T 5 110439611 CM C T Missense p.S408F c.1223C>T 5 110441021 BLCA C T Missense p.S525F c.1574C>T 5 110445967 BLCA C T Missense p.S695F c.2084C>T 5 110456205 CM C T Nonsense p.R860* c.2578C>T 5 110461365 UCEC C T Synonymous p.F602F c.1806C>T 5 110446899 CM C T Synonymous p.F936F c.2808C>T 5 110462533 BLCA C T Synonymous p.L8L c.24C>T 5 110428010 CM C T Synonymous p.T930T c.2790C>T 5 110462515 CM G A IntronicSNV . c.1884+52G>A 5 110447029 CM G A Missense p.A598T c.1792G>A 5 110446885 UCEC G A Missense p.D885N c.2653G>A 5 110461440 LUSC G A Missense p.E368K c.1102G>A 5 110440423 BLCA G A Missense p.G593S c.1777G>A 5 110446870 STAD G A Missense p.M628I c.1884G>A 5 110446977 CM G A Missense p.R9Q c.26G>A 5 110428012 CM G A Nonsense p.W246* c.737G>A 5 110438070 UCEC G A Synonymous p.A71A c.213G>A 5 110428199 CM G C Missense p.A51P c.151G>C 5 110428137 BLCA G C Missense p.A822P c.2464G>C 5 110459833 COREAD G C Missense p.E62Q c.184G>C 5 110428170 HNSC G C Missense p.E871Q c.2611G>C 5 110461398 GBM G C Synonymous p.L38L c.114G>C 5 110428100 HNSC G T 3-UTRSNV . c.2853+1063G>T 5 110463641 MB G T IntronicSNV . c.765+63G>T 5 110438161 NSCLC G T Missense p.A482S c.1444G>T 5 110443088 UCEC G T Missense p.A75S c.223G>T 5 110428209 RCCC G T Missense p.Q14H c.42G>T 5 110428028 COREAD G T Nonsense p.G142* c.424G>T 5 110432842 SCLC G T SpliceAcceptorSNV . c.1610-1G>T 5 110446486 LUAD G T Synonymous p.V20V c.60G>T 5 110428046 COREAD T A Missense p.L768H c.2303T>A 5 110456826 CM T A Missense p.S922T c.2764T>A 5 110462489 BRCA T A Nonsense p.L943* c.2828T>A 5 110462553 STAD T C Missense p.I264T c.791T>C 5 110439510 CM T C Synonymous p.L422L c.1264T>C 5 110441758 STAD T G 3-UTRSNV . c.2853+1188T>G 5 110463766 MB T G Missense p.F407C c.1220T>G 5 110441018 UCEC T G Missense p.I183S c.548T>G 5 110434508 RCCC