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 74869656 74869656 + Missense_Mutation SNP C C T TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr5:74869656C>T c.502C>T c.(502-504)Ccc>Tcc p.P168S BLCA 5 74865189 74865189 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr5:74865189G>A c.280G>A c.(280-282)Gaa>Aaa p.E94K BLCA 5 74865308 74865308 + Missense_Mutation SNP G G C TCGA-DK-A1AE-01A-11D-A13W-08 TCGA-DK-A1AE-10A-01D-A13W-08 g.chr5:74865308G>C c.399G>C c.(397-399)atG>atC p.M133I BLCA 5 74869628 74869628 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr5:74869628G>C c.474G>C c.(472-474)aaG>aaC p.K158N BLCA 5 74869692 74869692 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr5:74869692G>C c.538G>C c.(538-540)Gag>Cag p.E180Q BLCA 5 74877088 74877088 + Missense_Mutation SNP C C A TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr5:74877088C>A c.749C>A c.(748-750)cCa>cAa p.P250Q BLCA 5 74877153 74877153 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr5:74877153G>A c.814G>A c.(814-816)Gaa>Aaa p.E272K BLCA 5 74880637 74880637 + Missense_Mutation SNP T T C TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 g.chr5:74880637T>C c.1112T>C c.(1111-1113)aTt>aCt p.I371T BLCA 5 74892196 74892196 + Missense_Mutation SNP G G A TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr5:74892196G>A c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K BLCA 5 74892219 74892219 + Missense_Mutation SNP C C G TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr5:74892219C>G c.1701C>G c.(1699-1701)ttC>ttG p.F567L BLCA 5 74892360 74892360 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr5:74892360G>A c.1842G>A c.(1840-1842)gaG>gaA p.E614E BLCA 5 74892399 74892399 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:74892399C>T c.1881C>T c.(1879-1881)tgC>tgT p.C627C BLCA 5 74892605 74892605 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:74892605C>A c.2087C>A c.(2086-2088)tCt>tAt p.S696Y BLCA 5 74892752 74892752 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr5:74892752C>G c.2234C>G c.(2233-2235)tCt>tGt p.S745C BLCA 5 74892758 74892758 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:74892758C>G c.2240C>G c.(2239-2241)tCt>tGt p.S747C BRCA 5 74865213 74865213 + Missense_Mutation SNP A A G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr5:74865213A>G c.304A>G c.(304-306)Acc>Gcc p.T102A BRCA 5 74892346 74892346 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:74892346T>G c.1828T>G c.(1828-1830)Ttg>Gtg p.L610V CESC 5 74848348 74848348 + Nonsense_Mutation SNP C C T TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr5:74848348C>T c.187C>T c.(187-189)Cga>Tga p.R63* CESC 5 74865228 74865228 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:74865228G>A c.319G>A c.(319-321)Gac>Aac p.D107N CESC 5 74865282 74865282 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr5:74865282G>A c.373G>A c.(373-375)Gat>Aat p.D125N CESC 5 74877066 74877066 + Nonsense_Mutation SNP G G T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr5:74877066G>T c.727G>T c.(727-729)Gag>Tag p.E243* COAD 5 74842935 74842935 + Nonsense_Mutation SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:74842935G>T c.88G>T c.(88-90)Gga>Tga p.G30* COAD 5 74848305 74848305 + Silent SNP A A G TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr5:74848305A>G c.144A>G c.(142-144)agA>agG p.R48R COAD 5 74865196 74865196 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:74865196G>T c.287G>T c.(286-288)aGc>aTc p.S96I COAD 5 74872703 74872703 + Silent SNP T T C TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr5:74872703T>C c.639T>C c.(637-639)aaT>aaC p.N213N COAD 5 74877195 74877195 + Missense_Mutation SNP T T C TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr5:74877195T>C c.856T>C c.(856-858)Ttt>Ctt p.F286L COAD 5 74877231 74877231 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:74877231C>T c.892C>T c.(892-894)Cgt>Tgt p.R298C COAD 5 74880615 74880615 + Missense_Mutation SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:74880615A>G c.1090A>G c.(1090-1092)Atg>Gtg p.M364V COAD 5 74880616 74880616 + Missense_Mutation SNP T T C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr5:74880616T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T COAD 5 74892101 74892101 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:74892101G>T c.1583G>T c.(1582-1584)aGc>aTc p.S528I COAD 5 74892226 74892226 + Frame_Shift_Del DEL A A - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:74892226delA c.1708delA c.(1708-1710)aaafs p.K571fs COAD 5 74893576 74893576 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:74893576C>A c.2490C>A c.(2488-2490)agC>agA p.S830R COADREAD 5 74842935 74842935 + Nonsense_Mutation SNP G G T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:74842935G>T c.88G>T c.(88-90)Gga>Tga p.G30* COADREAD 5 74848305 74848305 + Silent SNP A A G TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr5:74848305A>G c.144A>G c.(142-144)agA>agG p.R48R COADREAD 5 74865196 74865196 + Missense_Mutation SNP G G T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:74865196G>T c.287G>T c.(286-288)aGc>aTc p.S96I COADREAD 5 74872703 74872703 + Silent SNP T T C TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr5:74872703T>C c.639T>C c.(637-639)aaT>aaC p.N213N COADREAD 5 74877195 74877195 + Missense_Mutation SNP T T C TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr5:74877195T>C c.856T>C c.(856-858)Ttt>Ctt p.F286L COADREAD 5 74877231 74877231 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:74877231C>T c.892C>T c.(892-894)Cgt>Tgt p.R298C COADREAD 5 74880615 74880615 + Missense_Mutation SNP A A G TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:74880615A>G c.1090A>G c.(1090-1092)Atg>Gtg p.M364V COADREAD 5 74880616 74880616 + Missense_Mutation SNP T T C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr5:74880616T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T COADREAD 5 74880616 74880616 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr5:74880616T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T COADREAD 5 74892101 74892101 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:74892101G>T c.1583G>T c.(1582-1584)aGc>aTc p.S528I COADREAD 5 74892226 74892226 + Frame_Shift_Del DEL A A - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr5:74892226delA c.1708delA c.(1708-1710)aaafs p.K571fs COADREAD 5 74892363 74892363 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:74892363T>C c.1845T>C c.(1843-1845)aaT>aaC p.N615N COADREAD 5 74892497 74892497 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:74892497C>T c.1979C>T c.(1978-1980)tCg>tTg p.S660L COADREAD 5 74893576 74893576 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:74893576C>A c.2490C>A c.(2488-2490)agC>agA p.S830R GBMLGG 5 74889813 74889813 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:74889813G>A c.1467G>A c.(1465-1467)aaG>aaA p.K489K GBMLGG 5 74892057 74892057 + Missense_Mutation SNP A A G TCGA-QH-A86X-01A-11D-A36O-08 TCGA-QH-A86X-10A-01D-A367-08 g.chr5:74892057A>G c.1539A>G c.(1537-1539)atA>atG p.I513M GBMLGG 5 74892160 74892160 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:74892160G>T c.1642G>T c.(1642-1644)Gag>Tag p.E548* HNSC 5 74865317 74865317 + Splice_Site SNP G G T TCGA-BA-6868-01B-12D-1912-08 TCGA-BA-6868-10A-01D-1912-08 g.chr5:74865317G>T c.408G>T c.(406-408)ctG>ctT p.L136L HNSC 5 74872759 74872759 + Splice_Site SNP G G A TCGA-UF-A7JF-01A-11D-A34J-08 TCGA-UF-A7JF-10A-01D-A34M-08 g.chr5:74872759G>A c.e6+1 HNSC 5 74879221 74879221 + Missense_Mutation SNP C C G TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr5:74879221C>G c.1038C>G c.(1036-1038)atC>atG p.I346M HNSC 5 74892047 74892047 + Splice_Site SNP G G A TCGA-CV-7421-01A-11D-2078-08 TCGA-CV-7421-10A-01D-2078-08 g.chr5:74892047G>A c.1529G>A c.(1528-1530)gGt>gAt p.G510D HNSC 5 74892176 74892176 + Missense_Mutation SNP A A G TCGA-CN-A642-01A-12D-A30E-08 TCGA-CN-A642-10A-01D-A30H-08 g.chr5:74892176A>G c.1658A>G c.(1657-1659)gAt>gGt p.D553G HNSC 5 74892236 74892236 + Nonsense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr5:74892236C>G c.1718C>G c.(1717-1719)tCa>tGa p.S573* HNSC 5 74892409 74892409 + Missense_Mutation SNP C C G TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr5:74892409C>G c.1891C>G c.(1891-1893)Caa>Gaa p.Q631E HNSC 5 74892767 74892767 + Missense_Mutation SNP C C T TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr5:74892767C>T c.2249C>T c.(2248-2250)tCa>tTa p.S750L HNSC 5 74892778 74892778 + Missense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr5:74892778G>A c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K KIPAN 5 74865216 74865216 + Missense_Mutation SNP A A G TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr5:74865216A>G c.307A>G c.(307-309)Ata>Gta p.I103V KIPAN 5 74872636 74872636 + Missense_Mutation SNP A A C TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr5:74872636A>C c.572A>C c.(571-573)aAt>aCt p.N191T KIPAN 5 74892358 74892358 + Missense_Mutation SNP G G C TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:74892358G>C c.1840G>C c.(1840-1842)Gag>Cag p.E614Q KIRC 5 74865216 74865216 + Missense_Mutation SNP A A G TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr5:74865216A>G c.307A>G c.(307-309)Ata>Gta p.I103V KIRP 5 74872636 74872636 + Missense_Mutation SNP A A C TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr5:74872636A>C c.572A>C c.(571-573)aAt>aCt p.N191T KIRP 5 74892358 74892358 + Missense_Mutation SNP G G C TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr5:74892358G>C c.1840G>C c.(1840-1842)Gag>Cag p.E614Q LGG 5 74889813 74889813 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:74889813G>A c.1467G>A c.(1465-1467)aaG>aaA p.K489K LGG 5 74892057 74892057 + Missense_Mutation SNP A A G TCGA-QH-A86X-01A-11D-A36O-08 TCGA-QH-A86X-10A-01D-A367-08 g.chr5:74892057A>G c.1539A>G c.(1537-1539)atA>atG p.I513M LGG 5 74892160 74892160 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:74892160G>T c.1642G>T c.(1642-1644)Gag>Tag p.E548* LIHC 5 74872759 74872759 + Splice_Site SNP G G C TCGA-DD-A3A2-01A-11D-A20W-10 TCGA-DD-A3A2-11A-11D-A20W-10 g.chr5:74872759G>C c.e6+1 LIHC 5 74880726 74880726 + Missense_Mutation SNP G G T TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr5:74880726G>T c.1201G>T c.(1201-1203)Ggt>Tgt p.G401C LUAD 5 74865234 74865234 + Missense_Mutation SNP G G A TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr5:74865234G>A c.325G>A c.(325-327)Gat>Aat p.D109N LUAD 5 74892214 74892214 + Missense_Mutation SNP A A G TCGA-67-6215-01A-11D-1753-08 TCGA-67-6215-10A-01D-1753-08 g.chr5:74892214A>G c.1696A>G c.(1696-1698)Agt>Ggt p.S566G LUAD 5 74892989 74892989 + Missense_Mutation SNP G G T TCGA-50-5939-01A-11D-1625-08 TCGA-50-5939-11A-01D-1625-08 g.chr5:74892989G>T c.2471G>T c.(2470-2472)aGc>aTc p.S824I LUSC 5 74892392 74892392 + Missense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr5:74892392C>A c.1874C>A c.(1873-1875)cCt>cAt p.P625H LUSC 5 74892912 74892912 + Silent SNP G G T TCGA-39-5016-01A-01D-1441-08 TCGA-39-5016-11A-01D-1441-08 g.chr5:74892912G>T c.2394G>T c.(2392-2394)gtG>gtT p.V798V LUSC 5 74893590 74893590 + Missense_Mutation SNP A A G TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr5:74893590A>G c.2504A>G c.(2503-2505)cAg>cGg p.Q835R LUSC 5 74893773 74893773 + Missense_Mutation SNP C C A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr5:74893773C>A c.2543C>A c.(2542-2544)aCa>aAa p.T848K OV 5 74848304 74848304 + Missense_Mutation SNP G G T TCGA-59-2350-01A-01W-0799-08 TCGA-59-2350-11A-01W-0800-08 g.chr5:74848304G>T c.143G>T c.(142-144)aGa>aTa p.R48I OV 5 74865203 74865203 + Silent SNP T T C TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr5:74865203T>C c.294T>C c.(292-294)aaT>aaC p.N98N PAAD 5 74886218 74886218 + Missense_Mutation SNP G G C TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr5:74886218G>C c.1309G>C c.(1309-1311)Gaa>Caa p.E437Q PAAD 5 74892094 74892094 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:74892094C>T c.1576C>T c.(1576-1578)Caa>Taa p.Q526* READ 5 74880616 74880616 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr5:74880616T>C c.1091T>C c.(1090-1092)aTg>aCg p.M364T READ 5 74892363 74892363 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:74892363T>C c.1845T>C c.(1843-1845)aaT>aaC p.N615N READ 5 74892497 74892497 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:74892497C>T c.1979C>T c.(1978-1980)tCg>tTg p.S660L SKCM 5 74848301 74848301 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr5:74848301C>T c.140C>T c.(139-141)tCc>tTc p.S47F SKCM 5 74865163 74865163 + Splice_Site SNP A A G TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr5:74865163A>G c.e4-1 SKCM 5 74865175 74865175 + Missense_Mutation SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:74865175T>C c.266T>C c.(265-267)tTt>tCt p.F89S SKCM 5 74869588 74869588 + Missense_Mutation SNP G G C TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:74869588G>C c.434G>C c.(433-435)aGa>aCa p.R145T SKCM 5 74879171 74879171 + Missense_Mutation SNP A A G TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr5:74879171A>G c.988A>G c.(988-990)Aat>Gat p.N330D SKCM 5 74889754 74889754 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr5:74889754C>T c.1408C>T c.(1408-1410)Cgt>Tgt p.R470C SKCM 5 74892785 74892785 + Missense_Mutation SNP T T C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:74892785T>C c.2267T>C c.(2266-2268)gTt>gCt p.V756A

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 74865308 74865308 single base substitution G C 3_prime_UTR_variant BLCA-US 5 74865308 74865308 single base substitution G C downstream_gene_variant BLCA-US 5 74865308 74865308 single base substitution G C exon_variant BLCA-US 5 74865308 74865308 single base substitution G C missense_variant M133I 399G>C BLCA-US 5 74865308 74865308 single base substitution G C missense_variant M43I 129G>C BLCA-US 5 74869692 74869692 single base substitution G C downstream_gene_variant BLCA-US 5 74869692 74869692 single base substitution G C missense_variant E180Q 538G>C BLCA-US 5 74869692 74869692 single base substitution G C missense_variant E90Q 268G>C BLCA-US 5 74869692 74869692 single base substitution G C splice_region_variant BLCA-US 5 74877153 74877153 single base substitution G A 3_prime_UTR_variant BLCA-US 5 74877153 74877153 single base substitution G A downstream_gene_variant BLCA-US 5 74877153 74877153 single base substitution G A exon_variant BLCA-US 5 74877153 74877153 single base substitution G A missense_variant E182K 544G>A BLCA-US 5 74877153 74877153 single base substitution G A missense_variant E272K 814G>A BLCA-US 5 74880637 74880637 single base substitution T C 3_prime_UTR_variant BLCA-US 5 74880637 74880637 single base substitution T C downstream_gene_variant BLCA-US 5 74880637 74880637 single base substitution T C exon_variant BLCA-US 5 74880637 74880637 single base substitution T C intron_variant BLCA-US 5 74880637 74880637 single base substitution T C missense_variant I281T 842T>C BLCA-US 5 74880637 74880637 single base substitution T C missense_variant I371T 1112T>C BLCA-US 5 74892196 74892196 single base substitution G A 3_prime_UTR_variant BLCA-US 5 74892196 74892196 single base substitution G A exon_variant BLCA-US 5 74892196 74892196 single base substitution G A intron_variant BLCA-US 5 74892196 74892196 single base substitution G A missense_variant E362K 1084G>A BLCA-US 5 74892196 74892196 single base substitution G A missense_variant E470K 1408G>A BLCA-US 5 74892196 74892196 single base substitution G A missense_variant E560K 1678G>A BLCA-US 5 74892196 74892196 single base substitution G A upstream_gene_variant BLCA-US 5 74892219 74892219 single base substitution C G 3_prime_UTR_variant BLCA-US 5 74892219 74892219 single base substitution C G exon_variant BLCA-US 5 74892219 74892219 single base substitution C G intron_variant BLCA-US 5 74892219 74892219 single base substitution C G missense_variant F369L 1107C>G BLCA-US 5 74892219 74892219 single base substitution C G missense_variant F477L 1431C>G BLCA-US 5 74892219 74892219 single base substitution C G missense_variant F567L 1701C>G BLCA-US 5 74892219 74892219 single base substitution C G upstream_gene_variant BLCA-US 5 74892360 74892360 single base substitution G A 3_prime_UTR_variant BLCA-US 5 74892360 74892360 single base substitution G A exon_variant BLCA-US 5 74892360 74892360 single base substitution G A intron_variant BLCA-US 5 74892360 74892360 single base substitution G A synonymous_variant E416E 1248G>A BLCA-US 5 74892360 74892360 single base substitution G A synonymous_variant E524E 1572G>A BLCA-US 5 74892360 74892360 single base substitution G A synonymous_variant E614E 1842G>A BLCA-US 5 74892360 74892360 single base substitution G A upstream_gene_variant BOCA-FR 5 74875111 74875111 single base substitution A T downstream_gene_variant BOCA-FR 5 74875111 74875111 single base substitution A T intron_variant BRCA-EU 5 74803079 74803079 single base substitution G C upstream_gene_variant BRCA-EU 5 74806617 74806617 single base substitution A G upstream_gene_variant BRCA-EU 5 74807153 74807153 deletion of <=200bp G - upstream_gene_variant BRCA-EU 5 74807938 74807938 single base substitution G A 5_prime_UTR_variant BRCA-EU 5 74807938 74807938 single base substitution G A intron_variant BRCA-EU 5 74808635 74808635 single base substitution G A 5_prime_UTR_variant BRCA-EU 5 74808635 74808635 single base substitution G A intron_variant BRCA-EU 5 74811733 74811733 single base substitution T A intron_variant BRCA-EU 5 74812629 74812629 single base substitution C G intron_variant BRCA-EU 5 74812895 74812895 single base substitution G A intron_variant BRCA-EU 5 74813279 74813279 deletion of <=200bp A - intron_variant BRCA-EU 5 74813279 74813279 single base substitution A T intron_variant BRCA-EU 5 74813689 74813689 single base substitution C T intron_variant BRCA-EU 5 74814108 74814108 single base substitution G A intron_variant BRCA-EU 5 74814795 74814795 single base substitution G C intron_variant BRCA-EU 5 74815317 74815319 deletion of <=200bp TAT - intron_variant BRCA-EU 5 74819963 74819963 single base substitution A C intron_variant BRCA-EU 5 74825607 74825607 single base substitution A C intron_variant BRCA-EU 5 74826831 74826831 single base substitution A G intron_variant BRCA-EU 5 74828305 74828305 single base substitution C G intron_variant BRCA-EU 5 74828362 74828362 single base substitution C A intron_variant BRCA-EU 5 74830040 74830040 single base substitution G A intron_variant BRCA-EU 5 74831077 74831077 deletion of <=200bp T - intron_variant BRCA-EU 5 74833883 74833883 single base substitution A T intron_variant BRCA-EU 5 74834995 74834995 single base substitution G C intron_variant BRCA-EU 5 74837354 74837354 deletion of <=200bp A - intron_variant BRCA-EU 5 74838692 74838692 single base substitution C T intron_variant BRCA-EU 5 74838692 74838692 single base substitution C T upstream_gene_variant BRCA-EU 5 74838693 74838693 single base substitution G T intron_variant BRCA-EU 5 74838693 74838693 single base substitution G T upstream_gene_variant BRCA-EU 5 74839055 74839055 single base substitution G A intron_variant BRCA-EU 5 74839055 74839055 single base substitution G A upstream_gene_variant BRCA-EU 5 74839681 74839681 single base substitution C T intron_variant BRCA-EU 5 74839681 74839681 single base substitution C T upstream_gene_variant BRCA-EU 5 74839738 74839738 single base substitution A G intron_variant BRCA-EU 5 74839738 74839738 single base substitution A G upstream_gene_variant BRCA-EU 5 74840026 74840026 single base substitution C T intron_variant BRCA-EU 5 74840026 74840026 single base substitution C T upstream_gene_variant BRCA-EU 5 74841777 74841777 single base substitution G C intron_variant BRCA-EU 5 74841777 74841777 single base substitution G C upstream_gene_variant BRCA-EU 5 74841840 74841840 single base substitution A T intron_variant BRCA-EU 5 74841840 74841840 single base substitution A T upstream_gene_variant BRCA-EU 5 74842508 74842508 single base substitution G A intron_variant BRCA-EU 5 74842508 74842508 single base substitution G A upstream_gene_variant BRCA-EU 5 74843240 74843240 single base substitution C T intron_variant BRCA-EU 5 74843916 74843916 single base substitution T G intron_variant BRCA-EU 5 74843916 74843916 single base substitution T G upstream_gene_variant BRCA-EU 5 74845266 74845266 deletion of <=200bp T - intron_variant BRCA-EU 5 74845266 74845266 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 74845335 74845335 single base substitution T C intron_variant BRCA-EU 5 74845335 74845335 single base substitution T C upstream_gene_variant BRCA-EU 5 74846571 74846571 single base substitution G C intron_variant BRCA-EU 5 74846571 74846571 single base substitution G C upstream_gene_variant BRCA-EU 5 74847096 74847096 single base substitution G C intron_variant BRCA-EU 5 74847096 74847096 single base substitution G C upstream_gene_variant BRCA-EU 5 74847387 74847387 single base substitution G C intron_variant BRCA-EU 5 74847387 74847387 single base substitution G C upstream_gene_variant BRCA-EU 5 74847583 74847583 single base substitution G C intron_variant BRCA-EU 5 74847583 74847583 single base substitution G C upstream_gene_variant BRCA-EU 5 74852895 74852895 single base substitution G C intron_variant BRCA-EU 5 74854082 74854082 single base substitution A G intron_variant BRCA-EU 5 74855707 74855707 single base substitution T C intron_variant BRCA-EU 5 74855902 74855902 insertion of <=200bp - A intron_variant BRCA-EU 5 74857933 74857933 single base substitution A G intron_variant BRCA-EU 5 74858978 74858978 single base substitution G T intron_variant BRCA-EU 5 74859994 74859994 single base substitution C G intron_variant BRCA-EU 5 74860203 74860203 single base substitution T G intron_variant BRCA-EU 5 74860354 74860354 single base substitution G A intron_variant BRCA-EU 5 74861322 74861322 insertion of <=200bp - T intron_variant BRCA-EU 5 74861726 74861726 single base substitution C T intron_variant BRCA-EU 5 74862161 74862161 single base substitution C G intron_variant BRCA-EU 5 74862531 74862531 single base substitution C T intron_variant BRCA-EU 5 74862605 74862605 single base substitution C G intron_variant BRCA-EU 5 74863841 74863842 deletion of <=200bp AT - intron_variant BRCA-EU 5 74865301 74865301 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 74865301 74865301 single base substitution G C downstream_gene_variant BRCA-EU 5 74865301 74865301 single base substitution G C exon_variant BRCA-EU 5 74865301 74865301 single base substitution G C missense_variant G131A 392G>C BRCA-EU 5 74865301 74865301 single base substitution G C missense_variant G41A 122G>C BRCA-EU 5 74866589 74866589 single base substitution G C downstream_gene_variant BRCA-EU 5 74866589 74866589 single base substitution G C intron_variant BRCA-EU 5 74866630 74866630 single base substitution G A downstream_gene_variant BRCA-EU 5 74866630 74866630 single base substitution G A intron_variant BRCA-EU 5 74866687 74866687 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 74866687 74866687 deletion of <=200bp T - intron_variant BRCA-EU 5 74867144 74867144 single base substitution C T downstream_gene_variant BRCA-EU 5 74867144 74867144 single base substitution C T intron_variant BRCA-EU 5 74867298 74867298 single base substitution C T downstream_gene_variant BRCA-EU 5 74867298 74867298 single base substitution C T intron_variant BRCA-EU 5 74867709 74867709 single base substitution C G downstream_gene_variant BRCA-EU 5 74867709 74867709 single base substitution C G intron_variant BRCA-EU 5 74868182 74868182 single base substitution G C downstream_gene_variant BRCA-EU 5 74868182 74868182 single base substitution G C intron_variant BRCA-EU 5 74869577 74869577 single base substitution C A 3_prime_UTR_variant BRCA-EU 5 74869577 74869577 single base substitution C A downstream_gene_variant BRCA-EU 5 74869577 74869577 single base substitution C A exon_variant BRCA-EU 5 74869577 74869577 single base substitution C A stop_gained Y141* 423C>A BRCA-EU 5 74869577 74869577 single base substitution C A stop_gained Y51* 153C>A BRCA-EU 5 74869986 74869986 single base substitution T C downstream_gene_variant BRCA-EU 5 74869986 74869986 single base substitution T C intron_variant BRCA-EU 5 74871940 74871940 single base substitution T C downstream_gene_variant BRCA-EU 5 74871940 74871940 single base substitution T C intron_variant BRCA-EU 5 74873070 74873070 single base substitution G A downstream_gene_variant BRCA-EU 5 74873070 74873070 single base substitution G A intron_variant BRCA-EU 5 74873078 74873078 single base substitution G A downstream_gene_variant BRCA-EU 5 74873078 74873078 single base substitution G A intron_variant BRCA-EU 5 74873689 74873689 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 74873689 74873689 deletion of <=200bp T - intron_variant BRCA-EU 5 74873689 74873689 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 74873689 74873689 insertion of <=200bp - T intron_variant BRCA-EU 5 74873804 74873804 single base substitution G C downstream_gene_variant BRCA-EU 5 74873804 74873804 single base substitution G C intron_variant BRCA-EU 5 74876036 74876036 single base substitution G C downstream_gene_variant BRCA-EU 5 74876036 74876036 single base substitution G C intron_variant BRCA-EU 5 74878144 74878144 single base substitution C A exon_variant BRCA-EU 5 74878144 74878144 single base substitution C A intron_variant BRCA-EU 5 74880785 74880785 single base substitution C T downstream_gene_variant BRCA-EU 5 74880785 74880785 single base substitution C T intron_variant BRCA-EU 5 74882070 74882070 single base substitution C T downstream_gene_variant BRCA-EU 5 74882070 74882070 single base substitution C T intron_variant BRCA-EU 5 74882833 74882833 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 74882833 74882833 insertion of <=200bp - T intron_variant BRCA-EU 5 74882975 74882975 single base substitution G A downstream_gene_variant BRCA-EU 5 74882975 74882975 single base substitution G A intron_variant BRCA-EU 5 74883068 74883068 single base substitution A G downstream_gene_variant BRCA-EU 5 74883068 74883068 single base substitution A G intron_variant BRCA-EU 5 74883406 74883406 single base substitution C T downstream_gene_variant BRCA-EU 5 74883406 74883406 single base substitution C T intron_variant BRCA-EU 5 74884030 74884030 insertion of <=200bp - T intron_variant BRCA-EU 5 74886831 74886831 single base substitution G A downstream_gene_variant BRCA-EU 5 74886831 74886831 single base substitution G A intron_variant BRCA-EU 5 74887480 74887480 single base substitution G T downstream_gene_variant BRCA-EU 5 74887480 74887480 single base substitution G T intron_variant BRCA-EU 5 74888337 74888337 single base substitution G C downstream_gene_variant BRCA-EU 5 74888337 74888337 single base substitution G C intron_variant BRCA-EU 5 74888337 74888337 single base substitution G C upstream_gene_variant BRCA-EU 5 74888349 74888349 single base substitution G A downstream_gene_variant BRCA-EU 5 74888349 74888349 single base substitution G A intron_variant BRCA-EU 5 74888349 74888349 single base substitution G A upstream_gene_variant BRCA-EU 5 74888796 74888796 single base substitution G A downstream_gene_variant BRCA-EU 5 74888796 74888796 single base substitution G A intron_variant BRCA-EU 5 74888796 74888796 single base substitution G A upstream_gene_variant BRCA-EU 5 74888863 74888863 single base substitution A G downstream_gene_variant BRCA-EU 5 74888863 74888863 single base substitution A G intron_variant BRCA-EU 5 74888863 74888863 single base substitution A G upstream_gene_variant BRCA-EU 5 74889773 74889773 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 74889773 74889773 single base substitution C G downstream_gene_variant BRCA-EU 5 74889773 74889773 single base substitution C G exon_variant BRCA-EU 5 74889773 74889773 single base substitution C G intron_variant BRCA-EU 5 74889773 74889773 single base substitution C G missense_variant S386C 1157C>G BRCA-EU 5 74889773 74889773 single base substitution C G missense_variant S476C 1427C>G BRCA-EU 5 74889773 74889773 single base substitution C G upstream_gene_variant BRCA-EU 5 74891885 74891885 single base substitution G A intron_variant BRCA-EU 5 74891885 74891885 single base substitution G A upstream_gene_variant BRCA-EU 5 74892282 74892282 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 74892282 74892282 single base substitution G A exon_variant BRCA-EU 5 74892282 74892282 single base substitution G A intron_variant BRCA-EU 5 74892282 74892282 single base substitution G A synonymous_variant V390V 1170G>A BRCA-EU 5 74892282 74892282 single base substitution G A synonymous_variant V498V 1494G>A BRCA-EU 5 74892282 74892282 single base substitution G A synonymous_variant V588V 1764G>A BRCA-EU 5 74892282 74892282 single base substitution G A upstream_gene_variant BRCA-EU 5 74893360 74893360 single base substitution G A exon_variant BRCA-EU 5 74893360 74893360 single base substitution G A intron_variant BRCA-EU 5 74893423 74893423 single base substitution G C exon_variant BRCA-EU 5 74893423 74893423 single base substitution G C intron_variant BRCA-EU 5 74893832 74893832 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 5 74893832 74893832 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 74893832 74893832 deletion of <=200bp T - exon_variant BRCA-EU 5 74893832 74893832 deletion of <=200bp T - frameshift_variant F670 BRCA-EU 5 74893832 74893832 deletion of <=200bp T - frameshift_variant F778 BRCA-EU 5 74893832 74893832 deletion of <=200bp T - frameshift_variant F868 BRCA-EU 5 74894171 74894171 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 74894171 74894171 single base substitution G C downstream_gene_variant BRCA-EU 5 74894171 74894171 single base substitution G C exon_variant BRCA-EU 5 74894447 74894447 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 74894447 74894447 single base substitution A G downstream_gene_variant BRCA-EU 5 74894447 74894447 single base substitution A G exon_variant BRCA-EU 5 74895173 74895173 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 74895173 74895173 single base substitution C T downstream_gene_variant BRCA-EU 5 74895487 74895487 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 74895487 74895487 single base substitution A G downstream_gene_variant BRCA-EU 5 74897188 74897188 deletion of <=200bp C - downstream_gene_variant BRCA-EU 5 74899436 74899436 single base substitution C A downstream_gene_variant BRCA-EU 5 74899590 74899593 deletion of <=200bp TGAA - downstream_gene_variant BRCA-FR 5 74813279 74813279 single base substitution A T intron_variant BRCA-FR 5 74830040 74830040 single base substitution G A intron_variant BRCA-FR 5 74834995 74834995 single base substitution G C intron_variant BRCA-FR 5 74840634 74840634 single base substitution G C intron_variant BRCA-FR 5 74840634 74840634 single base substitution G C upstream_gene_variant BRCA-FR 5 74840843 74840843 single base substitution C T intron_variant BRCA-FR 5 74840843 74840843 single base substitution C T upstream_gene_variant BRCA-FR 5 74843309 74843309 single base substitution A G intron_variant BRCA-FR 5 74843309 74843309 single base substitution A G upstream_gene_variant BRCA-FR 5 74847387 74847387 single base substitution G C intron_variant BRCA-FR 5 74847387 74847387 single base substitution G C upstream_gene_variant BRCA-FR 5 74860354 74860354 single base substitution G A intron_variant BRCA-FR 5 74865301 74865301 single base substitution G C 3_prime_UTR_variant BRCA-FR 5 74865301 74865301 single base substitution G C downstream_gene_variant BRCA-FR 5 74865301 74865301 single base substitution G C exon_variant BRCA-FR 5 74865301 74865301 single base substitution G C missense_variant G131A 392G>C BRCA-FR 5 74865301 74865301 single base substitution G C missense_variant G41A 122G>C BRCA-FR 5 74873070 74873070 single base substitution G A downstream_gene_variant BRCA-FR 5 74873070 74873070 single base substitution G A intron_variant BRCA-FR 5 74883655 74883655 single base substitution G C downstream_gene_variant BRCA-FR 5 74883655 74883655 single base substitution G C intron_variant BRCA-FR 5 74888337 74888337 single base substitution G C downstream_gene_variant BRCA-FR 5 74888337 74888337 single base substitution G C intron_variant BRCA-FR 5 74888337 74888337 single base substitution G C upstream_gene_variant BRCA-FR 5 74889653 74889653 single base substitution G A downstream_gene_variant BRCA-FR 5 74889653 74889653 single base substitution G A intron_variant BRCA-FR 5 74889653 74889653 single base substitution G A upstream_gene_variant BRCA-FR 5 74895173 74895173 single base substitution C T 3_prime_UTR_variant BRCA-FR 5 74895173 74895173 single base substitution C T downstream_gene_variant BRCA-UK 5 74858978 74858978 single base substitution G T intron_variant BRCA-UK 5 74878144 74878144 single base substitution C A exon_variant BRCA-UK 5 74878144 74878144 single base substitution C A intron_variant BRCA-UK 5 74886978 74886978 single base substitution G A downstream_gene_variant BRCA-UK 5 74886978 74886978 single base substitution G A intron_variant BRCA-US 5 74865213 74865213 single base substitution A G 3_prime_UTR_variant BRCA-US 5 74865213 74865213 single base substitution A G downstream_gene_variant BRCA-US 5 74865213 74865213 single base substitution A G exon_variant BRCA-US 5 74865213 74865213 single base substitution A G missense_variant T102A 304A>G BRCA-US 5 74865213 74865213 single base substitution A G missense_variant T12A 34A>G BRCA-US 5 74892346 74892346 single base substitution T G 3_prime_UTR_variant BRCA-US 5 74892346 74892346 single base substitution T G exon_variant BRCA-US 5 74892346 74892346 single base substitution T G intron_variant BRCA-US 5 74892346 74892346 single base substitution T G missense_variant L412V 1234T>G BRCA-US 5 74892346 74892346 single base substitution T G missense_variant L520V 1558T>G BRCA-US 5 74892346 74892346 single base substitution T G missense_variant L610V 1828T>G BRCA-US 5 74892346 74892346 single base substitution T G upstream_gene_variant BRCA-US 5 74894333 74894333 single base substitution G C 3_prime_UTR_variant BRCA-US 5 74894333 74894333 single base substitution G C downstream_gene_variant BRCA-US 5 74894333 74894333 single base substitution G C exon_variant BTCA-JP 5 74869533 74869533 deletion of <=200bp T - downstream_gene_variant BTCA-JP 5 74869533 74869533 deletion of <=200bp T - intron_variant BTCA-JP 5 74882875 74882875 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 74882875 74882875 single base substitution C T downstream_gene_variant BTCA-JP 5 74882875 74882875 single base substitution C T exon_variant BTCA-JP 5 74882875 74882875 single base substitution C T intron_variant BTCA-JP 5 74882875 74882875 single base substitution C T synonymous_variant S327S 981C>T BTCA-JP 5 74882875 74882875 single base substitution C T synonymous_variant S417S 1251C>T BTCA-JP 5 74892330 74892330 single base substitution G A 3_prime_UTR_variant BTCA-JP 5 74892330 74892330 single base substitution G A exon_variant BTCA-JP 5 74892330 74892330 single base substitution G A intron_variant BTCA-JP 5 74892330 74892330 single base substitution G A synonymous_variant K406K 1218G>A BTCA-JP 5 74892330 74892330 single base substitution G A synonymous_variant K514K 1542G>A BTCA-JP 5 74892330 74892330 single base substitution G A synonymous_variant K604K 1812G>A BTCA-JP 5 74892330 74892330 single base substitution G A upstream_gene_variant CESC-US 5 74848348 74848348 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 5 74848348 74848348 single base substitution C T exon_variant CESC-US 5 74848348 74848348 single base substitution C T stop_gained R63* 187C>T CESC-US 5 74865228 74865228 single base substitution G A 3_prime_UTR_variant CESC-US 5 74865228 74865228 single base substitution G A downstream_gene_variant CESC-US 5 74865228 74865228 single base substitution G A exon_variant CESC-US 5 74865228 74865228 single base substitution G A missense_variant D107N 319G>A CESC-US 5 74865228 74865228 single base substitution G A missense_variant D17N 49G>A CESC-US 5 74865282 74865282 single base substitution G A 3_prime_UTR_variant CESC-US 5 74865282 74865282 single base substitution G A downstream_gene_variant CESC-US 5 74865282 74865282 single base substitution G A exon_variant CESC-US 5 74865282 74865282 single base substitution G A missense_variant D125N 373G>A CESC-US 5 74865282 74865282 single base substitution G A missense_variant D35N 103G>A CESC-US 5 74877066 74877066 single base substitution G T 3_prime_UTR_variant CESC-US 5 74877066 74877066 single base substitution G T downstream_gene_variant CESC-US 5 74877066 74877066 single base substitution G T exon_variant CESC-US 5 74877066 74877066 single base substitution G T stop_gained E153* 457G>T CESC-US 5 74877066 74877066 single base substitution G T stop_gained E243* 727G>T CLLE-ES 5 74895632 74895632 single base substitution C G 3_prime_UTR_variant CLLE-ES 5 74895632 74895632 single base substitution C G downstream_gene_variant COAD-US 5 74842935 74842935 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 5 74842935 74842935 single base substitution G T exon_variant COAD-US 5 74842935 74842935 single base substitution G T intron_variant COAD-US 5 74842935 74842935 single base substitution G T stop_gained G30* 88G>T COAD-US 5 74877231 74877231 single base substitution C T 3_prime_UTR_variant COAD-US 5 74877231 74877231 single base substitution C T downstream_gene_variant COAD-US 5 74877231 74877231 single base substitution C T exon_variant COAD-US 5 74877231 74877231 single base substitution C T missense_variant R208C 622C>T COAD-US 5 74877231 74877231 single base substitution C T missense_variant R298C 892C>T COAD-US 5 74880751 74880751 single base substitution G T downstream_gene_variant COAD-US 5 74880751 74880751 single base substitution G T intron_variant COAD-US 5 74880751 74880751 single base substitution G T missense_variant R319M 956G>T COAD-US 5 74880751 74880751 single base substitution G T missense_variant R409M 1226G>T COAD-US 5 74880751 74880751 single base substitution G T splice_region_variant COAD-US 5 74892101 74892101 single base substitution G T 3_prime_UTR_variant COAD-US 5 74892101 74892101 single base substitution G T exon_variant COAD-US 5 74892101 74892101 single base substitution G T intron_variant COAD-US 5 74892101 74892101 single base substitution G T missense_variant S330I 989G>T COAD-US 5 74892101 74892101 single base substitution G T missense_variant S438I 1313G>T COAD-US 5 74892101 74892101 single base substitution G T missense_variant S528I 1583G>T COAD-US 5 74892101 74892101 single base substitution G T upstream_gene_variant COCA-CN 5 74836012 74836012 single base substitution C T intron_variant COCA-CN 5 74840663 74840663 single base substitution C T intron_variant COCA-CN 5 74840663 74840663 single base substitution C T upstream_gene_variant COCA-CN 5 74841794 74841794 single base substitution G C intron_variant COCA-CN 5 74841794 74841794 single base substitution G C upstream_gene_variant COCA-CN 5 74848121 74848121 single base substitution A C intron_variant COCA-CN 5 74848121 74848121 single base substitution A C upstream_gene_variant COCA-CN 5 74848349 74848349 single base substitution G A 5_prime_UTR_variant COCA-CN 5 74848349 74848349 single base substitution G A exon_variant COCA-CN 5 74848349 74848349 single base substitution G A missense_variant R63Q 188G>A COCA-CN 5 74851829 74851829 single base substitution A G intron_variant COCA-CN 5 74864536 74864536 single base substitution C A 3_prime_UTR_variant COCA-CN 5 74864536 74864536 single base substitution C A 5_prime_UTR_variant COCA-CN 5 74864536 74864536 single base substitution C A exon_variant COCA-CN 5 74864536 74864536 single base substitution C A intron_variant COCA-CN 5 74864602 74864602 single base substitution C A 3_prime_UTR_variant COCA-CN 5 74864602 74864602 single base substitution C A 5_prime_UTR_variant COCA-CN 5 74864602 74864602 single base substitution C A exon_variant COCA-CN 5 74864602 74864602 single base substitution C A intron_variant COCA-CN 5 74865349 74865349 single base substitution T C downstream_gene_variant COCA-CN 5 74865349 74865349 single base substitution T C intron_variant COCA-CN 5 74869599 74869599 single base substitution C T 3_prime_UTR_variant COCA-CN 5 74869599 74869599 single base substitution C T downstream_gene_variant COCA-CN 5 74869599 74869599 single base substitution C T exon_variant COCA-CN 5 74869599 74869599 single base substitution C T missense_variant R149C 445C>T COCA-CN 5 74869599 74869599 single base substitution C T missense_variant R59C 175C>T COCA-CN 5 74869634 74869634 single base substitution G A 3_prime_UTR_variant COCA-CN 5 74869634 74869634 single base substitution G A downstream_gene_variant COCA-CN 5 74869634 74869634 single base substitution G A exon_variant COCA-CN 5 74869634 74869634 single base substitution G A synonymous_variant L160L 480G>A COCA-CN 5 74869634 74869634 single base substitution G A synonymous_variant L70L 210G>A EOPC-DE 5 74841731 74841731 single base substitution G A intron_variant EOPC-DE 5 74841731 74841731 single base substitution G A upstream_gene_variant EOPC-DE 5 74884682 74884682 single base substitution G A intron_variant ESAD-UK 5 74806121 74806121 single base substitution A C upstream_gene_variant ESAD-UK 5 74810294 74810294 single base substitution C T intron_variant ESAD-UK 5 74811001 74811001 single base substitution G A intron_variant ESAD-UK 5 74811733 74811733 deletion of <=200bp T - intron_variant ESAD-UK 5 74815302 74815302 single base substitution G T intron_variant ESAD-UK 5 74816842 74816842 deletion of <=200bp T - intron_variant ESAD-UK 5 74816969 74816969 single base substitution A G intron_variant ESAD-UK 5 74820129 74820129 single base substitution A G intron_variant ESAD-UK 5 74820704 74820704 single base substitution G A intron_variant ESAD-UK 5 74823423 74823423 single base substitution G A intron_variant ESAD-UK 5 74825475 74825475 insertion of <=200bp - T intron_variant ESAD-UK 5 74827519 74827519 single base substitution G A intron_variant ESAD-UK 5 74829816 74829816 single base substitution C T intron_variant ESAD-UK 5 74832349 74832349 single base substitution C T intron_variant ESAD-UK 5 74834733 74834733 single base substitution T A intron_variant ESAD-UK 5 74836027 74836027 single base substitution G A intron_variant ESAD-UK 5 74836501 74836501 single base substitution A G intron_variant ESAD-UK 5 74839253 74839253 single base substitution G T intron_variant ESAD-UK 5 74839253 74839253 single base substitution G T upstream_gene_variant ESAD-UK 5 74842444 74842444 single base substitution C T intron_variant ESAD-UK 5 74842444 74842444 single base substitution C T upstream_gene_variant ESAD-UK 5 74846406 74846406 insertion of <=200bp - A intron_variant ESAD-UK 5 74846406 74846406 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 74848287 74848287 single base substitution T G intron_variant ESAD-UK 5 74848287 74848287 single base substitution T G upstream_gene_variant ESAD-UK 5 74850292 74850292 insertion of <=200bp - TA intron_variant ESAD-UK 5 74850322 74850322 single base substitution A G intron_variant ESAD-UK 5 74851242 74851242 single base substitution G A intron_variant ESAD-UK 5 74854103 74854103 single base substitution C T intron_variant ESAD-UK 5 74854212 74854212 single base substitution T G intron_variant ESAD-UK 5 74857446 74857446 single base substitution A T intron_variant ESAD-UK 5 74857535 74857535 single base substitution C T intron_variant ESAD-UK 5 74857917 74857917 single base substitution T G intron_variant ESAD-UK 5 74858007 74858007 single base substitution C G intron_variant ESAD-UK 5 74858983 74858983 single base substitution C G intron_variant ESAD-UK 5 74860137 74860137 single base substitution G A intron_variant ESAD-UK 5 74863095 74863095 single base substitution C G intron_variant ESAD-UK 5 74863133 74863133 single base substitution A C intron_variant ESAD-UK 5 74866380 74866380 single base substitution C T downstream_gene_variant ESAD-UK 5 74866380 74866380 single base substitution C T intron_variant ESAD-UK 5 74867311 74867311 single base substitution T G downstream_gene_variant ESAD-UK 5 74867311 74867311 single base substitution T G intron_variant ESAD-UK 5 74874985 74874985 single base substitution T C downstream_gene_variant ESAD-UK 5 74874985 74874985 single base substitution T C intron_variant ESAD-UK 5 74875106 74875106 single base substitution T G downstream_gene_variant ESAD-UK 5 74875106 74875106 single base substitution T G intron_variant ESAD-UK 5 74875786 74875786 single base substitution G A downstream_gene_variant ESAD-UK 5 74875786 74875786 single base substitution G A intron_variant ESAD-UK 5 74876018 74876018 single base substitution G A downstream_gene_variant ESAD-UK 5 74876018 74876018 single base substitution G A intron_variant ESAD-UK 5 74877573 74877573 single base substitution C A downstream_gene_variant ESAD-UK 5 74877573 74877573 single base substitution C A exon_variant ESAD-UK 5 74877573 74877573 single base substitution C A intron_variant ESAD-UK 5 74878728 74878728 single base substitution C T exon_variant ESAD-UK 5 74878728 74878728 single base substitution C T intron_variant ESAD-UK 5 74879232 74879232 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 74879232 74879232 single base substitution C A downstream_gene_variant ESAD-UK 5 74879232 74879232 single base substitution C A exon_variant ESAD-UK 5 74879232 74879232 single base substitution C A intron_variant ESAD-UK 5 74879232 74879232 single base substitution C A missense_variant P260H 779C>A ESAD-UK 5 74879232 74879232 single base substitution C A missense_variant P350H 1049C>A ESAD-UK 5 74880610 74880610 single base substitution A T 3_prime_UTR_variant ESAD-UK 5 74880610 74880610 single base substitution A T downstream_gene_variant ESAD-UK 5 74880610 74880610 single base substitution A T exon_variant ESAD-UK 5 74880610 74880610 single base substitution A T intron_variant ESAD-UK 5 74880610 74880610 single base substitution A T missense_variant E272V 815A>T ESAD-UK 5 74880610 74880610 single base substitution A T missense_variant E362V 1085A>T ESAD-UK 5 74882569 74882569 single base substitution T G downstream_gene_variant ESAD-UK 5 74882569 74882569 single base substitution T G intron_variant ESAD-UK 5 74883316 74883316 single base substitution T A downstream_gene_variant ESAD-UK 5 74883316 74883316 single base substitution T A intron_variant ESAD-UK 5 74883317 74883317 single base substitution T A downstream_gene_variant ESAD-UK 5 74883317 74883317 single base substitution T A intron_variant ESAD-UK 5 74883318 74883318 single base substitution A G downstream_gene_variant ESAD-UK 5 74883318 74883318 single base substitution A G intron_variant ESAD-UK 5 74883995 74883995 single base substitution G T intron_variant ESAD-UK 5 74884640 74884640 single base substitution C G intron_variant ESAD-UK 5 74886389 74886389 single base substitution G A downstream_gene_variant ESAD-UK 5 74886389 74886389 single base substitution G A intron_variant ESAD-UK 5 74888760 74888760 single base substitution A G downstream_gene_variant ESAD-UK 5 74888760 74888760 single base substitution A G intron_variant ESAD-UK 5 74888760 74888760 single base substitution A G upstream_gene_variant ESAD-UK 5 74890263 74890263 single base substitution C T downstream_gene_variant ESAD-UK 5 74890263 74890263 single base substitution C T intron_variant ESAD-UK 5 74890263 74890263 single base substitution C T upstream_gene_variant ESAD-UK 5 74894119 74894119 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 5 74894119 74894119 deletion of <=200bp T - downstream_gene_variant ESAD-UK 5 74894119 74894119 deletion of <=200bp T - exon_variant ESAD-UK 5 74895105 74895105 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 74895105 74895105 single base substitution C T downstream_gene_variant ESAD-UK 5 74896957 74896957 single base substitution A G 3_prime_UTR_variant ESAD-UK 5 74896957 74896957 single base substitution A G downstream_gene_variant ESAD-UK 5 74897205 74897205 single base substitution G A downstream_gene_variant ESAD-UK 5 74899734 74899734 single base substitution A C downstream_gene_variant ESAD-UK 5 74900144 74900144 insertion of <=200bp - A downstream_gene_variant ESCA-CN 5 74807165 74807165 single base substitution G T upstream_gene_variant ESCA-CN 5 74807191 74807191 single base substitution G T upstream_gene_variant ESCA-CN 5 74877171 74877171 single base substitution C G 3_prime_UTR_variant ESCA-CN 5 74877171 74877171 single base substitution C G downstream_gene_variant ESCA-CN 5 74877171 74877171 single base substitution C G exon_variant ESCA-CN 5 74877171 74877171 single base substitution C G missense_variant Q188E 562C>G ESCA-CN 5 74877171 74877171 single base substitution C G missense_variant Q278E 832C>G ESCA-CN 5 74880579 74880579 single base substitution T C downstream_gene_variant ESCA-CN 5 74880579 74880579 single base substitution T C intron_variant ESCA-CN 5 74880579 74880579 single base substitution T C splice_region_variant KIRC-US 5 74865216 74865216 single base substitution A G 3_prime_UTR_variant KIRC-US 5 74865216 74865216 single base substitution A G downstream_gene_variant KIRC-US 5 74865216 74865216 single base substitution A G exon_variant KIRC-US 5 74865216 74865216 single base substitution A G missense_variant I103V 307A>G KIRC-US 5 74865216 74865216 single base substitution A G missense_variant I13V 37A>G KIRP-US 5 74872636 74872636 single base substitution A C 3_prime_UTR_variant KIRP-US 5 74872636 74872636 single base substitution A C downstream_gene_variant KIRP-US 5 74872636 74872636 single base substitution A C exon_variant KIRP-US 5 74872636 74872636 single base substitution A C missense_variant N101T 302A>C KIRP-US 5 74872636 74872636 single base substitution A C missense_variant N191T 572A>C KIRP-US 5 74892358 74892358 single base substitution G C 3_prime_UTR_variant KIRP-US 5 74892358 74892358 single base substitution G C exon_variant KIRP-US 5 74892358 74892358 single base substitution G C intron_variant KIRP-US 5 74892358 74892358 single base substitution G C missense_variant E416Q 1246G>C KIRP-US 5 74892358 74892358 single base substitution G C missense_variant E524Q 1570G>C KIRP-US 5 74892358 74892358 single base substitution G C missense_variant E614Q 1840G>C KIRP-US 5 74892358 74892358 single base substitution G C upstream_gene_variant LAML-KR 5 74814756 74814756 single base substitution A G intron_variant LAML-KR 5 74822424 74822424 single base substitution G T intron_variant LAML-KR 5 74892002 74892002 single base substitution T C intron_variant LAML-KR 5 74892002 74892002 single base substitution T C upstream_gene_variant LICA-FR 5 74808305 74808305 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 5 74808305 74808305 single base substitution C T intron_variant LICA-FR 5 74844594 74844594 single base substitution A G intron_variant LICA-FR 5 74844594 74844594 single base substitution A G upstream_gene_variant LICA-FR 5 74850929 74850929 single base substitution A T intron_variant LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - 3_prime_UTR_variant LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - exon_variant LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - inframe_deletion K405 LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - inframe_deletion K513 LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - inframe_deletion K603 LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - intron_variant LICA-FR 5 74892325 74892327 deletion of <=200bp AAG - upstream_gene_variant LICA-FR 5 74895188 74895188 single base substitution A G 3_prime_UTR_variant LICA-FR 5 74895188 74895188 single base substitution A G downstream_gene_variant LIHC-US 5 74872759 74872759 single base substitution G C downstream_gene_variant LIHC-US 5 74872759 74872759 single base substitution G C splice_donor_variant LIHC-US 5 74892708 74892708 single base substitution T C 3_prime_UTR_variant LIHC-US 5 74892708 74892708 single base substitution T C exon_variant LIHC-US 5 74892708 74892708 single base substitution T C intron_variant LIHC-US 5 74892708 74892708 single base substitution T C synonymous_variant S532S 1596T>C LIHC-US 5 74892708 74892708 single base substitution T C synonymous_variant S640S 1920T>C LIHC-US 5 74892708 74892708 single base substitution T C synonymous_variant S730S 2190T>C LIHC-US 5 74892708 74892708 single base substitution T C upstream_gene_variant LINC-JP 5 74805778 74805778 single base substitution T C upstream_gene_variant LINC-JP 5 74806902 74806902 single base substitution T A upstream_gene_variant LINC-JP 5 74807377 74807377 single base substitution G T upstream_gene_variant LINC-JP 5 74809547 74809547 single base substitution G T intron_variant LINC-JP 5 74820451 74820451 single base substitution A C intron_variant LINC-JP 5 74823423 74823423 single base substitution G C intron_variant LINC-JP 5 74832978 74832978 single base substitution C T intron_variant LINC-JP 5 74843550 74843550 single base substitution A G intron_variant LINC-JP 5 74843550 74843550 single base substitution A G upstream_gene_variant LINC-JP 5 74848326 74848326 single base substitution G A 5_prime_UTR_variant LINC-JP 5 74848326 74848326 single base substitution G A exon_variant LINC-JP 5 74848326 74848326 single base substitution G A synonymous_variant K55K 165G>A LINC-JP 5 74848482 74848482 single base substitution G A intron_variant LINC-JP 5 74860109 74860109 single base substitution A G intron_variant LINC-JP 5 74862941 74862941 insertion of <=200bp - A intron_variant LINC-JP 5 74864459 74864459 single base substitution G T intron_variant LINC-JP 5 74868534 74868534 single base substitution A G downstream_gene_variant LINC-JP 5 74868534 74868534 single base substitution A G intron_variant LINC-JP 5 74875797 74875797 single base substitution A T downstream_gene_variant LINC-JP 5 74875797 74875797 single base substitution A T intron_variant LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT 3_prime_UTR_variant LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT downstream_gene_variant LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT exon_variant LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT frameshift_variant K231IA? LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT frameshift_variant K321IA? LINC-JP 5 74879145 74879145 insertion of <=200bp - TTGCT intron_variant LINC-JP 5 74880507 74880507 single base substitution A G downstream_gene_variant LINC-JP 5 74880507 74880507 single base substitution A G intron_variant LINC-JP 5 74882988 74882988 single base substitution A G downstream_gene_variant LINC-JP 5 74882988 74882988 single base substitution A G intron_variant LINC-JP 5 74886128 74886128 single base substitution A G intron_variant LINC-JP 5 74889078 74889078 single base substitution T C downstream_gene_variant LINC-JP 5 74889078 74889078 single base substitution T C intron_variant LINC-JP 5 74889078 74889078 single base substitution T C upstream_gene_variant LIRI-JP 5 74804421 74804421 single base substitution T C upstream_gene_variant LIRI-JP 5 74806245 74806245 single base substitution C A upstream_gene_variant LIRI-JP 5 74808677 74808677 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 5 74808677 74808677 single base substitution G C intron_variant LIRI-JP 5 74810302 74810302 single base substitution A G intron_variant LIRI-JP 5 74810447 74810447 single base substitution C T intron_variant LIRI-JP 5 74813769 74813769 single base substitution G T intron_variant LIRI-JP 5 74814828 74814828 single base substitution G T intron_variant LIRI-JP 5 74815901 74815901 single base substitution A G intron_variant LIRI-JP 5 74818429 74818429 single base substitution A G intron_variant LIRI-JP 5 74818544 74818544 single base substitution A G intron_variant LIRI-JP 5 74820159 74820159 single base substitution A G intron_variant LIRI-JP 5 74824607 74824607 single base substitution A G intron_variant LIRI-JP 5 74825745 74825745 single base substitution A G intron_variant LIRI-JP 5 74826731 74826731 single base substitution T G intron_variant LIRI-JP 5 74827719 74827719 single base substitution A G intron_variant LIRI-JP 5 74830503 74830503 single base substitution A G intron_variant LIRI-JP 5 74832509 74832509 single base substitution G C intron_variant LIRI-JP 5 74833478 74833478 single base substitution A G intron_variant LIRI-JP 5 74833545 74833545 single base substitution C A intron_variant LIRI-JP 5 74835267 74835267 single base substitution C G intron_variant LIRI-JP 5 74836794 74836794 single base substitution C G intron_variant LIRI-JP 5 74836808 74836808 single base substitution A G intron_variant LIRI-JP 5 74837009 74837009 single base substitution G T intron_variant LIRI-JP 5 74840443 74840443 single base substitution G A intron_variant LIRI-JP 5 74840443 74840443 single base substitution G A upstream_gene_variant LIRI-JP 5 74841745 74841745 single base substitution A G intron_variant LIRI-JP 5 74841745 74841745 single base substitution A G upstream_gene_variant LIRI-JP 5 74843747 74843747 single base substitution G T intron_variant LIRI-JP 5 74843747 74843747 single base substitution G T upstream_gene_variant LIRI-JP 5 74844136 74844136 single base substitution T C intron_variant LIRI-JP 5 74844136 74844136 single base substitution T C upstream_gene_variant LIRI-JP 5 74847124 74847124 single base substitution A C intron_variant LIRI-JP 5 74847124 74847124 single base substitution A C upstream_gene_variant LIRI-JP 5 74849071 74849071 single base substitution G C intron_variant LIRI-JP 5 74850162 74850162 single base substitution A G intron_variant LIRI-JP 5 74850769 74850769 single base substitution T C intron_variant LIRI-JP 5 74851118 74851118 single base substitution C T intron_variant LIRI-JP 5 74853528 74853528 single base substitution C G intron_variant LIRI-JP 5 74854958 74854958 single base substitution G C intron_variant LIRI-JP 5 74855899 74855899 single base substitution A G intron_variant LIRI-JP 5 74856276 74856276 single base substitution G A intron_variant LIRI-JP 5 74856740 74856740 single base substitution T C intron_variant LIRI-JP 5 74856808 74856808 single base substitution T C intron_variant LIRI-JP 5 74857508 74857508 single base substitution A G intron_variant LIRI-JP 5 74857712 74857712 single base substitution C A intron_variant LIRI-JP 5 74858462 74858462 single base substitution G T intron_variant LIRI-JP 5 74859131 74859131 single base substitution C G intron_variant LIRI-JP 5 74860585 74860585 single base substitution A G intron_variant LIRI-JP 5 74861055 74861055 single base substitution C G intron_variant LIRI-JP 5 74861121 74861121 single base substitution G T intron_variant LIRI-JP 5 74861209 74861209 single base substitution A C intron_variant LIRI-JP 5 74863941 74863941 single base substitution G T intron_variant LIRI-JP 5 74864464 74864464 single base substitution A G intron_variant LIRI-JP 5 74865242 74865242 single base substitution C A 3_prime_UTR_variant LIRI-JP 5 74865242 74865242 single base substitution C A downstream_gene_variant LIRI-JP 5 74865242 74865242 single base substitution C A exon_variant LIRI-JP 5 74865242 74865242 single base substitution C A missense_variant F111L 333C>A LIRI-JP 5 74865242 74865242 single base substitution C A missense_variant F21L 63C>A LIRI-JP 5 74866806 74866806 single base substitution A T downstream_gene_variant LIRI-JP 5 74866806 74866806 single base substitution A T intron_variant LIRI-JP 5 74869202 74869202 single base substitution G A downstream_gene_variant LIRI-JP 5 74869202 74869202 single base substitution G A intron_variant LIRI-JP 5 74871045 74871045 single base substitution G A downstream_gene_variant LIRI-JP 5 74871045 74871045 single base substitution G A intron_variant LIRI-JP 5 74871190 74871190 single base substitution G C downstream_gene_variant LIRI-JP 5 74871190 74871190 single base substitution G C intron_variant LIRI-JP 5 74871728 74871728 single base substitution A G downstream_gene_variant LIRI-JP 5 74871728 74871728 single base substitution A G intron_variant LIRI-JP 5 74872523 74872523 single base substitution T G downstream_gene_variant LIRI-JP 5 74872523 74872523 single base substitution T G intron_variant LIRI-JP 5 74875318 74875318 single base substitution C T downstream_gene_variant LIRI-JP 5 74875318 74875318 single base substitution C T intron_variant LIRI-JP 5 74876108 74876108 single base substitution A G downstream_gene_variant LIRI-JP 5 74876108 74876108 single base substitution A G intron_variant LIRI-JP 5 74876223 74876223 single base substitution A G downstream_gene_variant LIRI-JP 5 74876223 74876223 single base substitution A G intron_variant LIRI-JP 5 74877304 74877304 single base substitution G A downstream_gene_variant LIRI-JP 5 74877304 74877304 single base substitution G A exon_variant LIRI-JP 5 74877304 74877304 single base substitution G A intron_variant LIRI-JP 5 74877757 74877757 single base substitution G T exon_variant LIRI-JP 5 74877757 74877757 single base substitution G T intron_variant LIRI-JP 5 74881552 74881552 single base substitution C A downstream_gene_variant LIRI-JP 5 74881552 74881552 single base substitution C A intron_variant LIRI-JP 5 74882197 74882197 single base substitution T A downstream_gene_variant LIRI-JP 5 74882197 74882197 single base substitution T A intron_variant LIRI-JP 5 74882895 74882895 single base substitution T C downstream_gene_variant LIRI-JP 5 74882895 74882895 single base substitution T C intron_variant LIRI-JP 5 74883636 74883636 single base substitution T C downstream_gene_variant LIRI-JP 5 74883636 74883636 single base substitution T C intron_variant LIRI-JP 5 74886090 74886090 single base substitution A G intron_variant LIRI-JP 5 74886314 74886314 single base substitution A G intron_variant LIRI-JP 5 74886314 74886314 single base substitution A G missense_variant K469E 1405A>G LIRI-JP 5 74888056 74888056 single base substitution T G downstream_gene_variant LIRI-JP 5 74888056 74888056 single base substitution T G intron_variant LIRI-JP 5 74888056 74888056 single base substitution T G upstream_gene_variant LIRI-JP 5 74889162 74889162 single base substitution G A downstream_gene_variant LIRI-JP 5 74889162 74889162 single base substitution G A intron_variant LIRI-JP 5 74889162 74889162 single base substitution G A upstream_gene_variant LIRI-JP 5 74890015 74890015 single base substitution A G downstream_gene_variant LIRI-JP 5 74890015 74890015 single base substitution A G intron_variant LIRI-JP 5 74890015 74890015 single base substitution A G upstream_gene_variant LIRI-JP 5 74890333 74890333 single base substitution C T downstream_gene_variant LIRI-JP 5 74890333 74890333 single base substitution C T intron_variant LIRI-JP 5 74890333 74890333 single base substitution C T upstream_gene_variant LIRI-JP 5 74890801 74890801 single base substitution C T downstream_gene_variant LIRI-JP 5 74890801 74890801 single base substitution C T intron_variant LIRI-JP 5 74890801 74890801 single base substitution C T upstream_gene_variant LIRI-JP 5 74891869 74891869 single base substitution A G intron_variant LIRI-JP 5 74891869 74891869 single base substitution A G upstream_gene_variant LIRI-JP 5 74893539 74893539 single base substitution T A exon_variant LIRI-JP 5 74893539 74893539 single base substitution T A intron_variant LIRI-JP 5 74896057 74896057 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 74896057 74896057 single base substitution T C downstream_gene_variant LIRI-JP 5 74896435 74896435 single base substitution A G 3_prime_UTR_variant LIRI-JP 5 74896435 74896435 single base substitution A G downstream_gene_variant LIRI-JP 5 74898760 74898760 single base substitution G A downstream_gene_variant LIRI-JP 5 74900055 74900055 single base substitution A G downstream_gene_variant LIRI-JP 5 74900364 74900364 single base substitution T C downstream_gene_variant LUSC-KR 5 74803229 74803229 single base substitution T C upstream_gene_variant LUSC-KR 5 74804953 74804953 single base substitution T C upstream_gene_variant LUSC-KR 5 74806384 74806384 single base substitution C G upstream_gene_variant LUSC-KR 5 74808247 74808247 single base substitution C A 5_prime_UTR_variant LUSC-KR 5 74808247 74808247 single base substitution C A intron_variant LUSC-KR 5 74817129 74817129 single base substitution C T intron_variant LUSC-KR 5 74821966 74821966 single base substitution A T intron_variant LUSC-KR 5 74823654 74823654 single base substitution T C intron_variant LUSC-KR 5 74826651 74826651 single base substitution G T intron_variant LUSC-KR 5 74828971 74828971 single base substitution T C intron_variant LUSC-KR 5 74836034 74836034 single base substitution G T intron_variant LUSC-KR 5 74858381 74858381 single base substitution A T intron_variant LUSC-KR 5 74861464 74861464 single base substitution C T intron_variant LUSC-KR 5 74869467 74869467 single base substitution G A downstream_gene_variant LUSC-KR 5 74869467 74869467 single base substitution G A intron_variant LUSC-KR 5 74869692 74869692 single base substitution G T downstream_gene_variant LUSC-KR 5 74869692 74869692 single base substitution G T splice_region_variant LUSC-KR 5 74869692 74869692 single base substitution G T stop_gained E180* 538G>T LUSC-KR 5 74869692 74869692 single base substitution G T stop_gained E90* 268G>T LUSC-KR 5 74874011 74874011 single base substitution C T downstream_gene_variant LUSC-KR 5 74874011 74874011 single base substitution C T intron_variant LUSC-KR 5 74875379 74875379 single base substitution C A downstream_gene_variant LUSC-KR 5 74875379 74875379 single base substitution C A intron_variant LUSC-KR 5 74880980 74880980 single base substitution G T downstream_gene_variant LUSC-KR 5 74880980 74880980 single base substitution G T intron_variant LUSC-KR 5 74888421 74888421 single base substitution G C downstream_gene_variant LUSC-KR 5 74888421 74888421 single base substitution G C intron_variant LUSC-KR 5 74888421 74888421 single base substitution G C upstream_gene_variant LUSC-KR 5 74894137 74894137 single base substitution A T 3_prime_UTR_variant LUSC-KR 5 74894137 74894137 single base substitution A T downstream_gene_variant LUSC-KR 5 74894137 74894137 single base substitution A T exon_variant LUSC-KR 5 74896053 74896053 single base substitution A T 3_prime_UTR_variant LUSC-KR 5 74896053 74896053 single base substitution A T downstream_gene_variant LUSC-KR 5 74900229 74900229 single base substitution G T downstream_gene_variant LUSC-KR 5 74901804 74901804 single base substitution G C downstream_gene_variant LUSC-KR 5 74901853 74901853 single base substitution T C downstream_gene_variant LUSC-US 5 74892392 74892392 single base substitution C A 3_prime_UTR_variant LUSC-US 5 74892392 74892392 single base substitution C A exon_variant LUSC-US 5 74892392 74892392 single base substitution C A intron_variant LUSC-US 5 74892392 74892392 single base substitution C A missense_variant P427H 1280C>A LUSC-US 5 74892392 74892392 single base substitution C A missense_variant P535H 1604C>A LUSC-US 5 74892392 74892392 single base substitution C A missense_variant P625H 1874C>A LUSC-US 5 74892392 74892392 single base substitution C A upstream_gene_variant LUSC-US 5 74892912 74892912 single base substitution G T 3_prime_UTR_variant LUSC-US 5 74892912 74892912 single base substitution G T exon_variant LUSC-US 5 74892912 74892912 single base substitution G T intron_variant LUSC-US 5 74892912 74892912 single base substitution G T synonymous_variant V600V 1800G>T LUSC-US 5 74892912 74892912 single base substitution G T synonymous_variant V708V 2124G>T LUSC-US 5 74892912 74892912 single base substitution G T synonymous_variant V798V 2394G>T LUSC-US 5 74892912 74892912 single base substitution G T upstream_gene_variant LUSC-US 5 74893590 74893590 single base substitution A G 3_prime_UTR_variant LUSC-US 5 74893590 74893590 single base substitution A G exon_variant LUSC-US 5 74893590 74893590 single base substitution A G missense_variant Q637R 1910A>G LUSC-US 5 74893590 74893590 single base substitution A G missense_variant Q745R 2234A>G LUSC-US 5 74893590 74893590 single base substitution A G missense_variant Q835R 2504A>G LUSC-US 5 74893590 74893590 single base substitution A G missense_variant R459G 1375A>G LUSC-US 5 74893773 74893773 single base substitution C A 3_prime_UTR_variant LUSC-US 5 74893773 74893773 single base substitution C A exon_variant LUSC-US 5 74893773 74893773 single base substitution C A missense_variant T650K 1949C>A LUSC-US 5 74893773 74893773 single base substitution C A missense_variant T758K 2273C>A LUSC-US 5 74893773 74893773 single base substitution C A missense_variant T848K 2543C>A MALY-DE 5 74806467 74806467 single base substitution A G upstream_gene_variant MALY-DE 5 74806624 74806624 single base substitution A G upstream_gene_variant MALY-DE 5 74811733 74811733 single base substitution T A intron_variant MALY-DE 5 74817444 74817444 single base substitution G A intron_variant MALY-DE 5 74832242 74832252 deletion of <=200bp ATTGGAAGTTC - intron_variant MALY-DE 5 74838381 74838381 single base substitution A T intron_variant MALY-DE 5 74838381 74838381 single base substitution A T upstream_gene_variant MALY-DE 5 74841370 74841370 single base substitution G T intron_variant MALY-DE 5 74841370 74841370 single base substitution G T upstream_gene_variant MALY-DE 5 74848973 74848973 single base substitution C T intron_variant MALY-DE 5 74855780 74855780 single base substitution A C intron_variant MALY-DE 5 74858025 74858025 single base substitution G C intron_variant MALY-DE 5 74858846 74858846 single base substitution C T intron_variant MALY-DE 5 74862753 74862753 single base substitution G C intron_variant MALY-DE 5 74881849 74881852 deletion of <=200bp ATAA - downstream_gene_variant MALY-DE 5 74881849 74881852 deletion of <=200bp ATAA - intron_variant MALY-DE 5 74887235 74887235 single base substitution A T downstream_gene_variant MALY-DE 5 74887235 74887235 single base substitution A T intron_variant MALY-DE 5 74888580 74888580 single base substitution G A downstream_gene_variant MALY-DE 5 74888580 74888580 single base substitution G A intron_variant MALY-DE 5 74888580 74888580 single base substitution G A upstream_gene_variant MALY-DE 5 74898129 74898129 single base substitution C T downstream_gene_variant MALY-DE 5 74901124 74901124 single base substitution C A downstream_gene_variant MELA-AU 5 74802777 74802777 single base substitution T G upstream_gene_variant MELA-AU 5 74803280 74803280 single base substitution A G upstream_gene_variant MELA-AU 5 74803373 74803373 single base substitution G A upstream_gene_variant MELA-AU 5 74803408 74803408 single base substitution A G upstream_gene_variant MELA-AU 5 74804590 74804590 single base substitution G A upstream_gene_variant MELA-AU 5 74805003 74805003 single base substitution C T upstream_gene_variant MELA-AU 5 74805698 74805698 single base substitution G A upstream_gene_variant MELA-AU 5 74806158 74806158 single base substitution C T upstream_gene_variant MELA-AU 5 74806665 74806665 single base substitution C T upstream_gene_variant MELA-AU 5 74807119 74807119 single base substitution G A upstream_gene_variant MELA-AU 5 74807503 74807503 single base substitution C T upstream_gene_variant MELA-AU 5 74807678 74807678 single base substitution G A 5_prime_UTR_variant MELA-AU 5 74807678 74807678 single base substitution G A upstream_gene_variant MELA-AU 5 74807706 74807706 single base substitution C T 5_prime_UTR_variant MELA-AU 5 74807706 74807706 single base substitution C T upstream_gene_variant MELA-AU 5 74807972 74807972 single base substitution C T 5_prime_UTR_variant MELA-AU 5 74807972 74807972 single base substitution C T intron_variant MELA-AU 5 74809397 74809397 single base substitution C T intron_variant MELA-AU 5 74809809 74809809 single base substitution T G intron_variant MELA-AU 5 74810195 74810195 single base substitution G A intron_variant MELA-AU 5 74810438 74810438 single base substitution C T intron_variant MELA-AU 5 74810846 74810846 single base substitution T A intron_variant MELA-AU 5 74811863 74811863 single base substitution G A intron_variant MELA-AU 5 74811906 74811906 single base substitution C T intron_variant MELA-AU 5 74812335 74812335 single base substitution A C intron_variant MELA-AU 5 74812717 74812717 single base substitution G A intron_variant MELA-AU 5 74813346 74813346 single base substitution C T intron_variant MELA-AU 5 74814897 74814897 single base substitution C T intron_variant MELA-AU 5 74815015 74815015 single base substitution T A intron_variant MELA-AU 5 74816330 74816330 single base substitution C T intron_variant MELA-AU 5 74817091 74817091 single base substitution C T intron_variant MELA-AU 5 74817204 74817204 single base substitution G A intron_variant MELA-AU 5 74817352 74817352 single base substitution C T intron_variant MELA-AU 5 74817425 74817425 single base substitution C T intron_variant MELA-AU 5 74817653 74817653 single base substitution C T intron_variant MELA-AU 5 74818032 74818032 single base substitution C T intron_variant MELA-AU 5 74818049 74818049 single base substitution G T intron_variant MELA-AU 5 74819951 74819951 single base substitution C T intron_variant MELA-AU 5 74820188 74820188 single base substitution C T intron_variant MELA-AU 5 74821099 74821099 single base substitution A T intron_variant MELA-AU 5 74822336 74822336 single base substitution C T intron_variant MELA-AU 5 74822562 74822563 multiple base substitution (>=2bp and <=200bp) AC GT intron_variant MELA-AU 5 74823327 74823327 single base substitution T C intron_variant MELA-AU 5 74823329 74823329 single base substitution C T intron_variant MELA-AU 5 74824019 74824019 single base substitution C T intron_variant MELA-AU 5 74825838 74825838 single base substitution C T intron_variant MELA-AU 5 74825850 74825850 single base substitution C T intron_variant MELA-AU 5 74825878 74825878 single base substitution C T intron_variant MELA-AU 5 74826374 74826374 single base substitution C T intron_variant MELA-AU 5 74826405 74826405 single base substitution T C intron_variant MELA-AU 5 74827247 74827247 single base substitution T A intron_variant MELA-AU 5 74827313 74827313 single base substitution C T intron_variant MELA-AU 5 74827836 74827836 single base substitution C T intron_variant MELA-AU 5 74828262 74828262 single base substitution T A intron_variant MELA-AU 5 74828411 74828411 single base substitution C T intron_variant MELA-AU 5 74828680 74828680 single base substitution C T intron_variant MELA-AU 5 74828862 74828862 single base substitution C T intron_variant MELA-AU 5 74829194 74829194 single base substitution G C intron_variant MELA-AU 5 74830385 74830385 single base substitution T A intron_variant MELA-AU 5 74830391 74830391 deletion of <=200bp G - intron_variant MELA-AU 5 74830947 74830947 single base substitution C T intron_variant MELA-AU 5 74831283 74831283 single base substitution G A intron_variant MELA-AU 5 74831374 74831375 multiple base substitution (>=2bp and <=200bp) GT TA intron_variant MELA-AU 5 74831421 74831421 single base substitution G C intron_variant MELA-AU 5 74832121 74832121 single base substitution C T intron_variant MELA-AU 5 74832773 74832773 single base substitution C T intron_variant MELA-AU 5 74833134 74833135 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 74833267 74833267 single base substitution C T intron_variant MELA-AU 5 74833271 74833271 single base substitution C T intron_variant MELA-AU 5 74835778 74835778 single base substitution C T intron_variant MELA-AU 5 74836314 74836314 single base substitution G A intron_variant MELA-AU 5 74836356 74836356 single base substitution T G intron_variant MELA-AU 5 74836532 74836532 single base substitution T G intron_variant MELA-AU 5 74836542 74836542 single base substitution C T intron_variant MELA-AU 5 74837312 74837312 single base substitution C T intron_variant MELA-AU 5 74837671 74837671 single base substitution C T intron_variant MELA-AU 5 74838042 74838042 single base substitution G C intron_variant MELA-AU 5 74838042 74838042 single base substitution G C upstream_gene_variant MELA-AU 5 74838173 74838173 single base substitution C T intron_variant MELA-AU 5 74838173 74838173 single base substitution C T upstream_gene_variant MELA-AU 5 74838241 74838241 single base substitution G A intron_variant MELA-AU 5 74838241 74838241 single base substitution G A upstream_gene_variant MELA-AU 5 74838557 74838557 single base substitution C T intron_variant MELA-AU 5 74838557 74838557 single base substitution C T upstream_gene_variant MELA-AU 5 74838728 74838728 single base substitution G A intron_variant MELA-AU 5 74838728 74838728 single base substitution G A upstream_gene_variant MELA-AU 5 74838849 74838849 single base substitution T A intron_variant MELA-AU 5 74838849 74838849 single base substitution T A upstream_gene_variant MELA-AU 5 74838890 74838890 single base substitution G A intron_variant MELA-AU 5 74838890 74838890 single base substitution G A upstream_gene_variant MELA-AU 5 74840221 74840221 single base substitution C G intron_variant MELA-AU 5 74840221 74840221 single base substitution C G upstream_gene_variant MELA-AU 5 74840464 74840464 single base substitution C T intron_variant MELA-AU 5 74840464 74840464 single base substitution C T upstream_gene_variant MELA-AU 5 74840665 74840665 deletion of <=200bp T - intron_variant MELA-AU 5 74840665 74840665 deletion of <=200bp T - upstream_gene_variant MELA-AU 5 74840750 74840750 single base substitution C T intron_variant MELA-AU 5 74840750 74840750 single base substitution C T upstream_gene_variant MELA-AU 5 74840801 74840801 single base substitution A T intron_variant MELA-AU 5 74840801 74840801 single base substitution A T upstream_gene_variant MELA-AU 5 74840808 74840808 single base substitution G A intron_variant MELA-AU 5 74840808 74840808 single base substitution G A upstream_gene_variant MELA-AU 5 74841456 74841456 single base substitution C T intron_variant MELA-AU 5 74841456 74841456 single base substitution C T upstream_gene_variant MELA-AU 5 74842600 74842600 single base substitution C T intron_variant MELA-AU 5 74842600 74842600 single base substitution C T upstream_gene_variant MELA-AU 5 74843016 74843016 single base substitution T A intron_variant MELA-AU 5 74843050 74843050 single base substitution C T intron_variant MELA-AU 5 74843756 74843756 single base substitution C T intron_variant MELA-AU 5 74843756 74843756 single base substitution C T upstream_gene_variant MELA-AU 5 74845144 74845144 single base substitution C T intron_variant MELA-AU 5 74845144 74845144 single base substitution C T upstream_gene_variant MELA-AU 5 74845184 74845184 single base substitution C T intron_variant MELA-AU 5 74845184 74845184 single base substitution C T upstream_gene_variant MELA-AU 5 74845284 74845284 single base substitution T A intron_variant MELA-AU 5 74845284 74845284 single base substitution T A upstream_gene_variant MELA-AU 5 74845683 74845683 single base substitution A T intron_variant MELA-AU 5 74845683 74845683 single base substitution A T upstream_gene_variant MELA-AU 5 74846129 74846129 single base substitution C T intron_variant MELA-AU 5 74846129 74846129 single base substitution C T upstream_gene_variant MELA-AU 5 74846136 74846136 single base substitution G C intron_variant MELA-AU 5 74846136 74846136 single base substitution G C upstream_gene_variant MELA-AU 5 74846341 74846341 single base substitution T C intron_variant MELA-AU 5 74846341 74846341 single base substitution T C upstream_gene_variant MELA-AU 5 74846401 74846401 single base substitution C T intron_variant MELA-AU 5 74846401 74846401 single base substitution C T upstream_gene_variant MELA-AU 5 74846628 74846628 single base substitution C T intron_variant MELA-AU 5 74846628 74846628 single base substitution C T upstream_gene_variant MELA-AU 5 74849188 74849209 deletion of <=200bp TAACAATAAAATTAGATTAATC - intron_variant MELA-AU 5 74849407 74849407 single base substitution C T intron_variant MELA-AU 5 74849600 74849600 single base substitution C T intron_variant MELA-AU 5 74849838 74849838 single base substitution C T intron_variant MELA-AU 5 74850444 74850444 single base substitution C T intron_variant MELA-AU 5 74850665 74850665 single base substitution C T intron_variant MELA-AU 5 74851469 74851470 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 74851531 74851531 single base substitution C T intron_variant MELA-AU 5 74851709 74851718 deletion of <=200bp TCAAGCTATT - intron_variant MELA-AU 5 74851995 74851995 single base substitution C T intron_variant MELA-AU 5 74852115 74852115 single base substitution T G intron_variant MELA-AU 5 74852460 74852460 single base substitution T C intron_variant MELA-AU 5 74853342 74853342 single base substitution T A intron_variant MELA-AU 5 74853407 74853407 single base substitution A G intron_variant MELA-AU 5 74854316 74854316 single base substitution G T intron_variant MELA-AU 5 74854401 74854401 single base substitution C T intron_variant MELA-AU 5 74854513 74854513 single base substitution C T intron_variant MELA-AU 5 74854835 74854835 single base substitution C T intron_variant MELA-AU 5 74855425 74855425 single base substitution C T intron_variant MELA-AU 5 74855471 74855471 single base substitution C T intron_variant MELA-AU 5 74855526 74855526 single base substitution G C intron_variant MELA-AU 5 74856491 74856491 single base substitution C T intron_variant MELA-AU 5 74856532 74856532 single base substitution C T intron_variant MELA-AU 5 74856650 74856650 single base substitution A T intron_variant MELA-AU 5 74856897 74856897 single base substitution C T intron_variant MELA-AU 5 74857591 74857591 single base substitution C T intron_variant MELA-AU 5 74858030 74858031 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 74858068 74858068 single base substitution C T intron_variant MELA-AU 5 74859031 74859031 single base substitution C T intron_variant MELA-AU 5 74860235 74860236 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 5 74860362 74860362 single base substitution C T intron_variant MELA-AU 5 74861024 74861024 single base substitution G A intron_variant MELA-AU 5 74861210 74861210 single base substitution A G intron_variant MELA-AU 5 74861797 74861798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 74861803 74861803 single base substitution C T intron_variant MELA-AU 5 74861888 74861888 single base substitution C T intron_variant MELA-AU 5 74862166 74862166 single base substitution C T intron_variant MELA-AU 5 74862186 74862186 single base substitution C T intron_variant MELA-AU 5 74862249 74862249 single base substitution C T intron_variant MELA-AU 5 74862339 74862339 single base substitution C T intron_variant MELA-AU 5 74864150 74864150 single base substitution C T intron_variant MELA-AU 5 74865175 74865175 single base substitution T C 3_prime_UTR_variant MELA-AU 5 74865175 74865175 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 5 74865175 74865175 single base substitution T C exon_variant MELA-AU 5 74865175 74865175 single base substitution T C missense_variant F89S 266T>C MELA-AU 5 74865586 74865586 single base substitution C T downstream_gene_variant MELA-AU 5 74865586 74865586 single base substitution C T intron_variant MELA-AU 5 74866192 74866192 single base substitution C T downstream_gene_variant MELA-AU 5 74866192 74866192 single base substitution C T intron_variant MELA-AU 5 74866612 74866612 single base substitution C T downstream_gene_variant MELA-AU 5 74866612 74866612 single base substitution C T intron_variant MELA-AU 5 74868373 74868373 single base substitution T C downstream_gene_variant MELA-AU 5 74868373 74868373 single base substitution T C intron_variant MELA-AU 5 74869375 74869375 single base substitution T A downstream_gene_variant MELA-AU 5 74869375 74869375 single base substitution T A intron_variant MELA-AU 5 74869570 74869570 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74869570 74869570 single base substitution C T downstream_gene_variant MELA-AU 5 74869570 74869570 single base substitution C T exon_variant MELA-AU 5 74869570 74869570 single base substitution C T missense_variant S139L 416C>T MELA-AU 5 74869570 74869570 single base substitution C T missense_variant S49L 146C>T MELA-AU 5 74869588 74869588 single base substitution G C 3_prime_UTR_variant MELA-AU 5 74869588 74869588 single base substitution G C downstream_gene_variant MELA-AU 5 74869588 74869588 single base substitution G C exon_variant MELA-AU 5 74869588 74869588 single base substitution G C missense_variant R145T 434G>C MELA-AU 5 74869588 74869588 single base substitution G C missense_variant R55T 164G>C MELA-AU 5 74869864 74869864 single base substitution C T downstream_gene_variant MELA-AU 5 74869864 74869864 single base substitution C T intron_variant MELA-AU 5 74870421 74870421 single base substitution T C downstream_gene_variant MELA-AU 5 74870421 74870421 single base substitution T C intron_variant MELA-AU 5 74871657 74871657 single base substitution A G downstream_gene_variant MELA-AU 5 74871657 74871657 single base substitution A G intron_variant MELA-AU 5 74873248 74873248 single base substitution C T downstream_gene_variant MELA-AU 5 74873248 74873248 single base substitution C T intron_variant MELA-AU 5 74873839 74873839 single base substitution C T downstream_gene_variant MELA-AU 5 74873839 74873839 single base substitution C T intron_variant MELA-AU 5 74873840 74873840 single base substitution C T downstream_gene_variant MELA-AU 5 74873840 74873840 single base substitution C T intron_variant MELA-AU 5 74873959 74873960 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 5 74873959 74873960 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 74873964 74873964 single base substitution T A downstream_gene_variant MELA-AU 5 74873964 74873964 single base substitution T A intron_variant MELA-AU 5 74874071 74874071 single base substitution C T downstream_gene_variant MELA-AU 5 74874071 74874071 single base substitution C T intron_variant MELA-AU 5 74875517 74875517 single base substitution C T downstream_gene_variant MELA-AU 5 74875517 74875517 single base substitution C T intron_variant MELA-AU 5 74876549 74876549 single base substitution C T downstream_gene_variant MELA-AU 5 74876549 74876549 single base substitution C T intron_variant MELA-AU 5 74876844 74876844 single base substitution C T downstream_gene_variant MELA-AU 5 74876844 74876844 single base substitution C T intron_variant MELA-AU 5 74876991 74876992 multiple base substitution (>=2bp and <=200bp) CT TG downstream_gene_variant MELA-AU 5 74876991 74876992 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU 5 74877804 74877804 single base substitution C T exon_variant MELA-AU 5 74877804 74877804 single base substitution C T intron_variant MELA-AU 5 74878104 74878104 deletion of <=200bp A - exon_variant MELA-AU 5 74878104 74878104 deletion of <=200bp A - intron_variant MELA-AU 5 74878336 74878336 single base substitution C T exon_variant MELA-AU 5 74878336 74878336 single base substitution C T intron_variant MELA-AU 5 74878374 74878374 single base substitution T G exon_variant MELA-AU 5 74878374 74878374 single base substitution T G intron_variant MELA-AU 5 74878701 74878701 single base substitution G A exon_variant MELA-AU 5 74878701 74878701 single base substitution G A intron_variant MELA-AU 5 74878797 74878797 single base substitution T A downstream_gene_variant MELA-AU 5 74878797 74878797 single base substitution T A intron_variant MELA-AU 5 74878799 74878799 single base substitution C T downstream_gene_variant MELA-AU 5 74878799 74878799 single base substitution C T intron_variant MELA-AU 5 74879171 74879171 single base substitution A G 3_prime_UTR_variant MELA-AU 5 74879171 74879171 single base substitution A G downstream_gene_variant MELA-AU 5 74879171 74879171 single base substitution A G exon_variant MELA-AU 5 74879171 74879171 single base substitution A G intron_variant MELA-AU 5 74879171 74879171 single base substitution A G missense_variant N240D 718A>G MELA-AU 5 74879171 74879171 single base substitution A G missense_variant N330D 988A>G MELA-AU 5 74879675 74879675 single base substitution C T downstream_gene_variant MELA-AU 5 74879675 74879675 single base substitution C T intron_variant MELA-AU 5 74879941 74879941 single base substitution G A downstream_gene_variant MELA-AU 5 74879941 74879941 single base substitution G A intron_variant MELA-AU 5 74880625 74880625 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74880625 74880625 single base substitution C T downstream_gene_variant MELA-AU 5 74880625 74880625 single base substitution C T exon_variant MELA-AU 5 74880625 74880625 single base substitution C T intron_variant MELA-AU 5 74880625 74880625 single base substitution C T missense_variant A277V 830C>T MELA-AU 5 74880625 74880625 single base substitution C T missense_variant A367V 1100C>T MELA-AU 5 74880782 74880782 single base substitution C T downstream_gene_variant MELA-AU 5 74880782 74880782 single base substitution C T intron_variant MELA-AU 5 74881005 74881005 single base substitution C T downstream_gene_variant MELA-AU 5 74881005 74881005 single base substitution C T intron_variant MELA-AU 5 74881227 74881227 single base substitution G A downstream_gene_variant MELA-AU 5 74881227 74881227 single base substitution G A intron_variant MELA-AU 5 74881245 74881245 single base substitution C T downstream_gene_variant MELA-AU 5 74881245 74881245 single base substitution C T intron_variant MELA-AU 5 74881560 74881560 single base substitution C T downstream_gene_variant MELA-AU 5 74881560 74881560 single base substitution C T intron_variant MELA-AU 5 74882124 74882124 single base substitution C T downstream_gene_variant MELA-AU 5 74882124 74882124 single base substitution C T intron_variant MELA-AU 5 74883370 74883370 single base substitution C T downstream_gene_variant MELA-AU 5 74883370 74883370 single base substitution C T intron_variant MELA-AU 5 74883543 74883543 single base substitution C T downstream_gene_variant MELA-AU 5 74883543 74883543 single base substitution C T intron_variant MELA-AU 5 74883628 74883628 single base substitution C T downstream_gene_variant MELA-AU 5 74883628 74883628 single base substitution C T intron_variant MELA-AU 5 74883717 74883718 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 74883717 74883718 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 74883916 74883916 single base substitution G A intron_variant MELA-AU 5 74883969 74883969 single base substitution T A intron_variant MELA-AU 5 74885682 74885682 single base substitution G A intron_variant MELA-AU 5 74885888 74885888 single base substitution C T intron_variant MELA-AU 5 74887333 74887333 single base substitution C T downstream_gene_variant MELA-AU 5 74887333 74887333 single base substitution C T intron_variant MELA-AU 5 74887480 74887480 single base substitution G A downstream_gene_variant MELA-AU 5 74887480 74887480 single base substitution G A intron_variant MELA-AU 5 74887994 74887994 single base substitution C T downstream_gene_variant MELA-AU 5 74887994 74887994 single base substitution C T intron_variant MELA-AU 5 74887994 74887994 single base substitution C T upstream_gene_variant MELA-AU 5 74888627 74888627 single base substitution C T downstream_gene_variant MELA-AU 5 74888627 74888627 single base substitution C T intron_variant MELA-AU 5 74888627 74888627 single base substitution C T upstream_gene_variant MELA-AU 5 74889460 74889460 single base substitution G A downstream_gene_variant MELA-AU 5 74889460 74889460 single base substitution G A intron_variant MELA-AU 5 74889460 74889460 single base substitution G A upstream_gene_variant MELA-AU 5 74889591 74889591 single base substitution C T downstream_gene_variant MELA-AU 5 74889591 74889591 single base substitution C T intron_variant MELA-AU 5 74889591 74889591 single base substitution C T upstream_gene_variant MELA-AU 5 74889920 74889920 single base substitution T A downstream_gene_variant MELA-AU 5 74889920 74889920 single base substitution T A intron_variant MELA-AU 5 74889920 74889920 single base substitution T A upstream_gene_variant MELA-AU 5 74890159 74890159 single base substitution C T downstream_gene_variant MELA-AU 5 74890159 74890159 single base substitution C T intron_variant MELA-AU 5 74890159 74890159 single base substitution C T upstream_gene_variant MELA-AU 5 74890307 74890307 single base substitution C T downstream_gene_variant MELA-AU 5 74890307 74890307 single base substitution C T intron_variant MELA-AU 5 74890307 74890307 single base substitution C T upstream_gene_variant MELA-AU 5 74890348 74890348 single base substitution A G downstream_gene_variant MELA-AU 5 74890348 74890348 single base substitution A G intron_variant MELA-AU 5 74890348 74890348 single base substitution A G upstream_gene_variant MELA-AU 5 74892088 74892088 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74892088 74892088 single base substitution C T exon_variant MELA-AU 5 74892088 74892088 single base substitution C T intron_variant MELA-AU 5 74892088 74892088 single base substitution C T missense_variant H326Y 976C>T MELA-AU 5 74892088 74892088 single base substitution C T missense_variant H434Y 1300C>T MELA-AU 5 74892088 74892088 single base substitution C T missense_variant H524Y 1570C>T MELA-AU 5 74892088 74892088 single base substitution C T upstream_gene_variant MELA-AU 5 74893742 74893742 single base substitution G T exon_variant MELA-AU 5 74893742 74893742 single base substitution G T intron_variant MELA-AU 5 74893746 74893746 single base substitution C T exon_variant MELA-AU 5 74893746 74893746 single base substitution C T intron_variant MELA-AU 5 74893932 74893932 single base substitution T G 3_prime_UTR_variant MELA-AU 5 74893932 74893932 single base substitution T G downstream_gene_variant MELA-AU 5 74893932 74893932 single base substitution T G exon_variant MELA-AU 5 74894012 74894012 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74894012 74894012 single base substitution C T downstream_gene_variant MELA-AU 5 74894012 74894012 single base substitution C T exon_variant MELA-AU 5 74894522 74894522 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74894522 74894522 single base substitution C T downstream_gene_variant MELA-AU 5 74894522 74894522 single base substitution C T exon_variant MELA-AU 5 74894821 74894821 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74894821 74894821 single base substitution C T downstream_gene_variant MELA-AU 5 74894821 74894821 single base substitution C T exon_variant MELA-AU 5 74895267 74895267 single base substitution G A 3_prime_UTR_variant MELA-AU 5 74895267 74895267 single base substitution G A downstream_gene_variant MELA-AU 5 74895371 74895371 single base substitution G A 3_prime_UTR_variant MELA-AU 5 74895371 74895371 single base substitution G A downstream_gene_variant MELA-AU 5 74895668 74895668 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74895668 74895668 single base substitution C T downstream_gene_variant MELA-AU 5 74896287 74896287 single base substitution C T 3_prime_UTR_variant MELA-AU 5 74896287 74896287 single base substitution C T downstream_gene_variant MELA-AU 5 74896696 74896696 single base substitution A G 3_prime_UTR_variant MELA-AU 5 74896696 74896696 single base substitution A G downstream_gene_variant MELA-AU 5 74898405 74898405 single base substitution C T downstream_gene_variant MELA-AU 5 74898550 74898550 single base substitution C T downstream_gene_variant MELA-AU 5 74899702 74899702 single base substitution T A downstream_gene_variant MELA-AU 5 74899770 74899770 single base substitution C T downstream_gene_variant MELA-AU 5 74899986 74899986 single base substitution C T downstream_gene_variant MELA-AU 5 74900117 74900117 single base substitution T C downstream_gene_variant MELA-AU 5 74900526 74900526 single base substitution T C downstream_gene_variant MELA-AU 5 74900573 74900573 single base substitution T C downstream_gene_variant ORCA-IN 5 74836127 74836127 single base substitution G A intron_variant ORCA-IN 5 74854059 74854060 deletion of <=200bp TG - intron_variant ORCA-IN 5 74857867 74857867 single base substitution A G intron_variant ORCA-IN 5 74877076 74877076 single base substitution G T 3_prime_UTR_variant ORCA-IN 5 74877076 74877076 single base substitution G T downstream_gene_variant ORCA-IN 5 74877076 74877076 single base substitution G T exon_variant ORCA-IN 5 74877076 74877076 single base substitution G T missense_variant R156L 467G>T ORCA-IN 5 74877076 74877076 single base substitution G T missense_variant R246L 737G>T OV-AU 5 74804527 74804527 single base substitution A T upstream_gene_variant OV-AU 5 74812930 74812930 single base substitution T A intron_variant OV-AU 5 74831663 74831663 single base substitution T C intron_variant OV-AU 5 74838888 74838888 single base substitution C T intron_variant OV-AU 5 74838888 74838888 single base substitution C T upstream_gene_variant OV-AU 5 74842025 74842025 single base substitution T A intron_variant OV-AU 5 74842025 74842025 single base substitution T A upstream_gene_variant OV-AU 5 74844551 74844551 single base substitution G T intron_variant OV-AU 5 74844551 74844551 single base substitution G T upstream_gene_variant OV-AU 5 74847243 74847243 single base substitution A G intron_variant OV-AU 5 74847243 74847243 single base substitution A G upstream_gene_variant OV-AU 5 74850199 74850199 single base substitution T G intron_variant OV-AU 5 74879385 74879385 single base substitution G T downstream_gene_variant OV-AU 5 74879385 74879385 single base substitution G T intron_variant OV-AU 5 74883460 74883460 single base substitution C T downstream_gene_variant OV-AU 5 74883460 74883460 single base substitution C T intron_variant PACA-AU 5 74803502 74803502 single base substitution A T upstream_gene_variant PACA-AU 5 74811733 74811733 single base substitution T A intron_variant PACA-AU 5 74812003 74812003 single base substitution C A intron_variant PACA-AU 5 74814541 74814541 single base substitution G C intron_variant PACA-AU 5 74814587 74814587 single base substitution C T intron_variant PACA-AU 5 74823320 74823320 single base substitution T A intron_variant PACA-AU 5 74826974 74826974 deletion of <=200bp A - intron_variant PACA-AU 5 74835503 74835503 single base substitution C G intron_variant PACA-AU 5 74837471 74837471 single base substitution A G intron_variant PACA-AU 5 74840399 74840399 single base substitution G A intron_variant PACA-AU 5 74840399 74840399 single base substitution G A upstream_gene_variant PACA-AU 5 74845151 74845151 single base substitution A T intron_variant PACA-AU 5 74845151 74845151 single base substitution A T upstream_gene_variant PACA-AU 5 74847416 74847416 single base substitution A C intron_variant PACA-AU 5 74847416 74847416 single base substitution A C upstream_gene_variant PACA-AU 5 74852717 74852717 single base substitution C A intron_variant PACA-AU 5 74864092 74864092 single base substitution T C intron_variant PACA-AU 5 74868478 74868478 single base substitution T G downstream_gene_variant PACA-AU 5 74868478 74868478 single base substitution T G intron_variant PACA-AU 5 74874128 74874128 single base substitution G A downstream_gene_variant PACA-AU 5 74874128 74874128 single base substitution G A intron_variant PACA-AU 5 74880932 74880932 single base substitution A C downstream_gene_variant PACA-AU 5 74880932 74880932 single base substitution A C intron_variant PACA-AU 5 74885211 74885211 single base substitution C T intron_variant PACA-AU 5 74889689 74889689 single base substitution T C downstream_gene_variant PACA-AU 5 74889689 74889689 single base substitution T C intron_variant PACA-AU 5 74889689 74889689 single base substitution T C upstream_gene_variant PACA-AU 5 74892731 74892731 single base substitution T C 3_prime_UTR_variant PACA-AU 5 74892731 74892731 single base substitution T C exon_variant PACA-AU 5 74892731 74892731 single base substitution T C intron_variant PACA-AU 5 74892731 74892731 single base substitution T C missense_variant I540T 1619T>C PACA-AU 5 74892731 74892731 single base substitution T C missense_variant I648T 1943T>C PACA-AU 5 74892731 74892731 single base substitution T C missense_variant I738T 2213T>C PACA-AU 5 74892731 74892731 single base substitution T C upstream_gene_variant PACA-CA 5 74804120 74804120 single base substitution T C upstream_gene_variant PACA-CA 5 74811733 74811733 single base substitution T A intron_variant PACA-CA 5 74812974 74812974 single base substitution C T intron_variant PACA-CA 5 74817781 74817781 single base substitution G A intron_variant PACA-CA 5 74818303 74818303 single base substitution C T intron_variant PACA-CA 5 74818426 74818426 single base substitution A G intron_variant PACA-CA 5 74824389 74824389 single base substitution C T intron_variant PACA-CA 5 74825475 74825475 single base substitution T A intron_variant PACA-CA 5 74826991 74826991 single base substitution C T intron_variant PACA-CA 5 74836124 74836124 single base substitution A T intron_variant PACA-CA 5 74844775 74844775 single base substitution G C intron_variant PACA-CA 5 74844775 74844775 single base substitution G C upstream_gene_variant PACA-CA 5 74845496 74845496 single base substitution T G intron_variant PACA-CA 5 74845496 74845496 single base substitution T G upstream_gene_variant PACA-CA 5 74847357 74847357 single base substitution G A intron_variant PACA-CA 5 74847357 74847357 single base substitution G A upstream_gene_variant PACA-CA 5 74855306 74855306 single base substitution T C intron_variant PACA-CA 5 74855358 74855358 single base substitution T G intron_variant PACA-CA 5 74865775 74865775 single base substitution G A downstream_gene_variant PACA-CA 5 74865775 74865775 single base substitution G A intron_variant PACA-CA 5 74872584 74872584 deletion of <=200bp T - downstream_gene_variant PACA-CA 5 74872584 74872584 deletion of <=200bp T - intron_variant PACA-CA 5 74873038 74873038 single base substitution A C downstream_gene_variant PACA-CA 5 74873038 74873038 single base substitution A C intron_variant PACA-CA 5 74873296 74873296 single base substitution A T downstream_gene_variant PACA-CA 5 74873296 74873296 single base substitution A T intron_variant PACA-CA 5 74874065 74874065 single base substitution C T downstream_gene_variant PACA-CA 5 74874065 74874065 single base substitution C T intron_variant PACA-CA 5 74881356 74881356 single base substitution G A downstream_gene_variant PACA-CA 5 74881356 74881356 single base substitution G A intron_variant PACA-CA 5 74881904 74881904 single base substitution A T downstream_gene_variant PACA-CA 5 74881904 74881904 single base substitution A T intron_variant PACA-CA 5 74884615 74884615 single base substitution G T intron_variant PACA-CA 5 74884811 74884811 single base substitution G C intron_variant PACA-CA 5 74891658 74891658 single base substitution G A intron_variant PACA-CA 5 74891658 74891658 single base substitution G A upstream_gene_variant PACA-CA 5 74896297 74896297 single base substitution A G 3_prime_UTR_variant PACA-CA 5 74896297 74896297 single base substitution A G downstream_gene_variant PAEN-AU 5 74838836 74838836 insertion of <=200bp - TTAT intron_variant PAEN-AU 5 74838836 74838836 insertion of <=200bp - TTAT upstream_gene_variant PAEN-AU 5 74840398 74840398 single base substitution C T intron_variant PAEN-AU 5 74840398 74840398 single base substitution C T upstream_gene_variant PAEN-AU 5 74856026 74856026 single base substitution T C intron_variant PAEN-IT 5 74821241 74821241 single base substitution G A intron_variant PAEN-IT 5 74845351 74845351 single base substitution C A intron_variant PAEN-IT 5 74845351 74845351 single base substitution C A upstream_gene_variant PAEN-IT 5 74889483 74889483 single base substitution A G downstream_gene_variant PAEN-IT 5 74889483 74889483 single base substitution A G intron_variant PAEN-IT 5 74889483 74889483 single base substitution A G upstream_gene_variant PAEN-IT 5 74899891 74899891 single base substitution G T downstream_gene_variant PBCA-DE 5 74817218 74817218 insertion of <=200bp - T intron_variant PBCA-DE 5 74840026 74840026 single base substitution C A intron_variant PBCA-DE 5 74840026 74840026 single base substitution C A upstream_gene_variant PBCA-DE 5 74840467 74840467 insertion of <=200bp - TGAA intron_variant PBCA-DE 5 74840467 74840467 insertion of <=200bp - TGAA upstream_gene_variant PBCA-DE 5 74857932 74857932 single base substitution C A intron_variant PBCA-DE 5 74864729 74864729 single base substitution G T intron_variant PBCA-DE 5 74885212 74885213 deletion of <=200bp AT - intron_variant PBCA-DE 5 74900625 74900625 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 74901354 74901354 single base substitution C A downstream_gene_variant PBCA-DE 5 74901389 74901389 single base substitution G T downstream_gene_variant PRAD-CA 5 74804474 74804474 single base substitution C T upstream_gene_variant PRAD-CA 5 74806104 74806104 single base substitution C T upstream_gene_variant PRAD-CA 5 74808237 74808237 single base substitution G T 5_prime_UTR_variant PRAD-CA 5 74808237 74808237 single base substitution G T intron_variant PRAD-CA 5 74809045 74809045 single base substitution C T intron_variant PRAD-CA 5 74814772 74814772 single base substitution T C intron_variant PRAD-CA 5 74823331 74823331 single base substitution C T intron_variant PRAD-CA 5 74823772 74823772 single base substitution C G intron_variant PRAD-CA 5 74824832 74824832 single base substitution A G intron_variant PRAD-CA 5 74829947 74829947 single base substitution T C intron_variant PRAD-CA 5 74830808 74830808 single base substitution G A intron_variant PRAD-CA 5 74831732 74831732 single base substitution G A intron_variant PRAD-CA 5 74840745 74840745 single base substitution A G intron_variant PRAD-CA 5 74840745 74840745 single base substitution A G upstream_gene_variant PRAD-CA 5 74845235 74845235 single base substitution A T intron_variant PRAD-CA 5 74845235 74845235 single base substitution A T upstream_gene_variant PRAD-CA 5 74846613 74846613 single base substitution G A intron_variant PRAD-CA 5 74846613 74846613 single base substitution G A upstream_gene_variant PRAD-CA 5 74849313 74849313 single base substitution T G intron_variant PRAD-CA 5 74849469 74849469 single base substitution A G intron_variant PRAD-CA 5 74851855 74851855 single base substitution G A intron_variant PRAD-CA 5 74858634 74858634 single base substitution C T intron_variant PRAD-CA 5 74859571 74859571 single base substitution C T intron_variant PRAD-CA 5 74861029 74861029 single base substitution T G intron_variant PRAD-CA 5 74870807 74870807 single base substitution C T downstream_gene_variant PRAD-CA 5 74870807 74870807 single base substitution C T intron_variant PRAD-CA 5 74877803 74877803 single base substitution T C exon_variant PRAD-CA 5 74877803 74877803 single base substitution T C intron_variant PRAD-CA 5 74890404 74890404 single base substitution G A downstream_gene_variant PRAD-CA 5 74890404 74890404 single base substitution G A intron_variant PRAD-CA 5 74890404 74890404 single base substitution G A upstream_gene_variant PRAD-CA 5 74894835 74894835 single base substitution A G 3_prime_UTR_variant PRAD-CA 5 74894835 74894835 single base substitution A G downstream_gene_variant PRAD-CA 5 74894835 74894835 single base substitution A G exon_variant PRAD-CA 5 74901306 74901306 single base substitution G A downstream_gene_variant PRAD-UK 5 74807028 74807028 single base substitution G A upstream_gene_variant PRAD-UK 5 74815231 74815231 single base substitution G A intron_variant PRAD-UK 5 74828194 74828194 single base substitution A G intron_variant PRAD-UK 5 74836744 74836744 single base substitution T G intron_variant PRAD-UK 5 74849890 74849890 single base substitution A C intron_variant PRAD-UK 5 74867241 74867241 single base substitution G A downstream_gene_variant PRAD-UK 5 74867241 74867241 single base substitution G A intron_variant PRAD-UK 5 74867317 74867317 single base substitution T G downstream_gene_variant PRAD-UK 5 74867317 74867317 single base substitution T G intron_variant PRAD-UK 5 74881462 74881462 single base substitution T C downstream_gene_variant PRAD-UK 5 74881462 74881462 single base substitution T C intron_variant PRAD-UK 5 74898320 74898320 single base substitution A G downstream_gene_variant READ-US 5 74892054 74892054 single base substitution G A 3_prime_UTR_variant READ-US 5 74892054 74892054 single base substitution G A exon_variant READ-US 5 74892054 74892054 single base substitution G A intron_variant READ-US 5 74892054 74892054 single base substitution G A synonymous_variant R314R 942G>A READ-US 5 74892054 74892054 single base substitution G A synonymous_variant R422R 1266G>A READ-US 5 74892054 74892054 single base substitution G A synonymous_variant R512R 1536G>A READ-US 5 74892054 74892054 single base substitution G A upstream_gene_variant READ-US 5 74893841 74893841 single base substitution T G 3_prime_UTR_variant READ-US 5 74893841 74893841 single base substitution T G downstream_gene_variant READ-US 5 74893841 74893841 single base substitution T G exon_variant READ-US 5 74893841 74893841 single base substitution T G stop_lost *673E 2017T>G READ-US 5 74893841 74893841 single base substitution T G stop_lost *781E 2341T>G READ-US 5 74893841 74893841 single base substitution T G stop_lost *871E 2611T>G RECA-EU 5 74806228 74806228 single base substitution A T upstream_gene_variant RECA-EU 5 74811361 74811361 single base substitution A T intron_variant RECA-EU 5 74813356 74813356 single base substitution C A intron_variant RECA-EU 5 74815570 74815570 single base substitution C T intron_variant RECA-EU 5 74827557 74827557 single base substitution T C intron_variant RECA-EU 5 74836841 74836841 single base substitution G A intron_variant RECA-EU 5 74849615 74849615 single base substitution T A intron_variant RECA-EU 5 74853459 74853459 single base substitution T G intron_variant RECA-EU 5 74856574 74856574 single base substitution A T intron_variant RECA-EU 5 74858595 74858595 single base substitution T C intron_variant RECA-EU 5 74863266 74863266 single base substitution G C intron_variant RECA-EU 5 74863638 74863638 single base substitution C T intron_variant RECA-EU 5 74863646 74863646 single base substitution C T intron_variant RECA-EU 5 74869776 74869776 single base substitution C T downstream_gene_variant RECA-EU 5 74869776 74869776 single base substitution C T intron_variant RECA-EU 5 74872064 74872064 single base substitution C A downstream_gene_variant RECA-EU 5 74872064 74872064 single base substitution C A intron_variant RECA-EU 5 74872437 74872437 single base substitution A C downstream_gene_variant RECA-EU 5 74872437 74872437 single base substitution A C intron_variant RECA-EU 5 74884874 74884874 single base substitution C T intron_variant RECA-EU 5 74897481 74897481 single base substitution A G downstream_gene_variant SKCA-BR 5 74808888 74808888 single base substitution T A intron_variant SKCA-BR 5 74810760 74810760 single base substitution G A intron_variant SKCA-BR 5 74818173 74818173 single base substitution C T intron_variant SKCA-BR 5 74819068 74819068 single base substitution C T intron_variant SKCA-BR 5 74819878 74819878 single base substitution C A intron_variant SKCA-BR 5 74822399 74822399 single base substitution G T intron_variant SKCA-BR 5 74822413 74822413 insertion of <=200bp - CT intron_variant SKCA-BR 5 74822743 74822743 single base substitution C T intron_variant SKCA-BR 5 74823329 74823329 single base substitution C T intron_variant SKCA-BR 5 74826220 74826221 deletion of <=200bp TC - intron_variant SKCA-BR 5 74826865 74826865 single base substitution C T intron_variant SKCA-BR 5 74831548 74831548 single base substitution C T intron_variant SKCA-BR 5 74836005 74836005 single base substitution T A intron_variant SKCA-BR 5 74837903 74837903 single base substitution G C intron_variant SKCA-BR 5 74837903 74837903 single base substitution G C upstream_gene_variant SKCA-BR 5 74838835 74838835 insertion of <=200bp - CTTAT intron_variant SKCA-BR 5 74838835 74838835 insertion of <=200bp - CTTAT upstream_gene_variant SKCA-BR 5 74839027 74839027 single base substitution C A intron_variant SKCA-BR 5 74839027 74839027 single base substitution C A upstream_gene_variant SKCA-BR 5 74840117 74840117 single base substitution T G intron_variant SKCA-BR 5 74840117 74840117 single base substitution T G upstream_gene_variant SKCA-BR 5 74840466 74840466 insertion of <=200bp - CTGAA intron_variant SKCA-BR 5 74840466 74840466 insertion of <=200bp - CTGAA upstream_gene_variant SKCA-BR 5 74845408 74845408 single base substitution T C intron_variant SKCA-BR 5 74845408 74845408 single base substitution T C upstream_gene_variant SKCA-BR 5 74852538 74852538 single base substitution C T intron_variant SKCA-BR 5 74856142 74856142 single base substitution C T intron_variant SKCA-BR 5 74857441 74857441 single base substitution C T intron_variant SKCA-BR 5 74869177 74869177 single base substitution G T downstream_gene_variant SKCA-BR 5 74869177 74869177 single base substitution G T intron_variant SKCA-BR 5 74876691 74876691 single base substitution C T downstream_gene_variant SKCA-BR 5 74876691 74876691 single base substitution C T intron_variant SKCA-BR 5 74880892 74880892 single base substitution G C downstream_gene_variant SKCA-BR 5 74880892 74880892 single base substitution G C intron_variant SKCA-BR 5 74886853 74886853 single base substitution A C downstream_gene_variant SKCA-BR 5 74886853 74886853 single base substitution A C intron_variant SKCA-BR 5 74888676 74888676 single base substitution C T downstream_gene_variant SKCA-BR 5 74888676 74888676 single base substitution C T intron_variant SKCA-BR 5 74888676 74888676 single base substitution C T upstream_gene_variant SKCA-BR 5 74890606 74890606 single base substitution T C downstream_gene_variant SKCA-BR 5 74890606 74890606 single base substitution T C intron_variant SKCA-BR 5 74890606 74890606 single base substitution T C upstream_gene_variant SKCA-BR 5 74898428 74898428 single base substitution C T downstream_gene_variant SKCA-BR 5 74900943 74900945 deletion of <=200bp TAC - downstream_gene_variant SKCA-BR 5 74901853 74901853 single base substitution T C downstream_gene_variant SKCM-US 5 74848301 74848301 single base substitution C T 5_prime_UTR_variant SKCM-US 5 74848301 74848301 single base substitution C T exon_variant SKCM-US 5 74848301 74848301 single base substitution C T missense_variant S47F 140C>T SKCM-US 5 74865163 74865163 single base substitution A G splice_acceptor_variant SKCM-US 5 74865175 74865175 single base substitution T C 3_prime_UTR_variant SKCM-US 5 74865175 74865175 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 5 74865175 74865175 single base substitution T C exon_variant SKCM-US 5 74865175 74865175 single base substitution T C missense_variant F89S 266T>C SKCM-US 5 74869588 74869588 single base substitution G C 3_prime_UTR_variant SKCM-US 5 74869588 74869588 single base substitution G C downstream_gene_variant SKCM-US 5 74869588 74869588 single base substitution G C exon_variant SKCM-US 5 74869588 74869588 single base substitution G C missense_variant R145T 434G>C SKCM-US 5 74869588 74869588 single base substitution G C missense_variant R55T 164G>C SKCM-US 5 74872667 74872667 single base substitution C T 3_prime_UTR_variant SKCM-US 5 74872667 74872667 single base substitution C T downstream_gene_variant SKCM-US 5 74872667 74872667 single base substitution C T exon_variant SKCM-US 5 74872667 74872667 single base substitution C T synonymous_variant Y111Y 333C>T SKCM-US 5 74872667 74872667 single base substitution C T synonymous_variant Y201Y 603C>T SKCM-US 5 74879171 74879171 single base substitution A G 3_prime_UTR_variant SKCM-US 5 74879171 74879171 single base substitution A G downstream_gene_variant SKCM-US 5 74879171 74879171 single base substitution A G exon_variant SKCM-US 5 74879171 74879171 single base substitution A G intron_variant SKCM-US 5 74879171 74879171 single base substitution A G missense_variant N240D 718A>G SKCM-US 5 74879171 74879171 single base substitution A G missense_variant N330D 988A>G SKCM-US 5 74889754 74889754 single base substitution C T 3_prime_UTR_variant SKCM-US 5 74889754 74889754 single base substitution C T downstream_gene_variant SKCM-US 5 74889754 74889754 single base substitution C T exon_variant SKCM-US 5 74889754 74889754 single base substitution C T intron_variant SKCM-US 5 74889754 74889754 single base substitution C T missense_variant R380C 1138C>T SKCM-US 5 74889754 74889754 single base substitution C T missense_variant R470C 1408C>T SKCM-US 5 74889754 74889754 single base substitution C T upstream_gene_variant SKCM-US 5 74892785 74892785 single base substitution T C 3_prime_UTR_variant SKCM-US 5 74892785 74892785 single base substitution T C exon_variant SKCM-US 5 74892785 74892785 single base substitution T C intron_variant SKCM-US 5 74892785 74892785 single base substitution T C missense_variant V558A 1673T>C SKCM-US 5 74892785 74892785 single base substitution T C missense_variant V666A 1997T>C SKCM-US 5 74892785 74892785 single base substitution T C missense_variant V756A 2267T>C SKCM-US 5 74892785 74892785 single base substitution T C upstream_gene_variant STAD-US 5 74869615 74869615 single base substitution G A 3_prime_UTR_variant STAD-US 5 74869615 74869615 single base substitution G A downstream_gene_variant STAD-US 5 74869615 74869615 single base substitution G A exon_variant STAD-US 5 74869615 74869615 single base substitution G A missense_variant G154E 461G>A STAD-US 5 74869615 74869615 single base substitution G A missense_variant G64E 191G>A STAD-US 5 74872668 74872668 single base substitution T G 3_prime_UTR_variant STAD-US 5 74872668 74872668 single base substitution T G downstream_gene_variant STAD-US 5 74872668 74872668 single base substitution T G exon_variant STAD-US 5 74872668 74872668 single base substitution T G missense_variant L112V 334T>G STAD-US 5 74872668 74872668 single base substitution T G missense_variant L202V 604T>G STAD-US 5 74877075 74877075 single base substitution C T 3_prime_UTR_variant STAD-US 5 74877075 74877075 single base substitution C T downstream_gene_variant STAD-US 5 74877075 74877075 single base substitution C T exon_variant STAD-US 5 74877075 74877075 single base substitution C T stop_gained R156* 466C>T STAD-US 5 74877075 74877075 single base substitution C T stop_gained R246* 736C>T STAD-US 5 74880741 74880741 single base substitution C T 3_prime_UTR_variant STAD-US 5 74880741 74880741 single base substitution C T downstream_gene_variant STAD-US 5 74880741 74880741 single base substitution C T exon_variant STAD-US 5 74880741 74880741 single base substitution C T intron_variant STAD-US 5 74880741 74880741 single base substitution C T missense_variant H316Y 946C>T STAD-US 5 74880741 74880741 single base substitution C T missense_variant H406Y 1216C>T STAD-US 5 74889775 74889775 single base substitution G A 3_prime_UTR_variant STAD-US 5 74889775 74889775 single base substitution G A downstream_gene_variant STAD-US 5 74889775 74889775 single base substitution G A exon_variant STAD-US 5 74889775 74889775 single base substitution G A intron_variant STAD-US 5 74889775 74889775 single base substitution G A missense_variant V387I 1159G>A STAD-US 5 74889775 74889775 single base substitution G A missense_variant V477I 1429G>A STAD-US 5 74889775 74889775 single base substitution G A upstream_gene_variant STAD-US 5 74892070 74892070 single base substitution A G 3_prime_UTR_variant STAD-US 5 74892070 74892070 single base substitution A G exon_variant STAD-US 5 74892070 74892070 single base substitution A G intron_variant STAD-US 5 74892070 74892070 single base substitution A G missense_variant N320D 958A>G STAD-US 5 74892070 74892070 single base substitution A G missense_variant N428D 1282A>G STAD-US 5 74892070 74892070 single base substitution A G missense_variant N518D 1552A>G STAD-US 5 74892070 74892070 single base substitution A G upstream_gene_variant STAD-US 5 74892287 74892287 single base substitution A G 3_prime_UTR_variant STAD-US 5 74892287 74892287 single base substitution A G exon_variant STAD-US 5 74892287 74892287 single base substitution A G intron_variant STAD-US 5 74892287 74892287 single base substitution A G missense_variant K392R 1175A>G STAD-US 5 74892287 74892287 single base substitution A G missense_variant K500R 1499A>G STAD-US 5 74892287 74892287 single base substitution A G missense_variant K590R 1769A>G STAD-US 5 74892287 74892287 single base substitution A G upstream_gene_variant STAD-US 5 74892828 74892828 single base substitution A G 3_prime_UTR_variant STAD-US 5 74892828 74892828 single base substitution A G exon_variant STAD-US 5 74892828 74892828 single base substitution A G intron_variant STAD-US 5 74892828 74892828 single base substitution A G synonymous_variant E572E 1716A>G STAD-US 5 74892828 74892828 single base substitution A G synonymous_variant E680E 2040A>G STAD-US 5 74892828 74892828 single base substitution A G synonymous_variant E770E 2310A>G STAD-US 5 74892828 74892828 single base substitution A G upstream_gene_variant STAD-US 5 74893608 74893608 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 5 74893608 74893608 insertion of <=200bp - A exon_variant STAD-US 5 74893608 74893608 insertion of <=200bp - A frameshift_variant T643N? STAD-US 5 74893608 74893608 insertion of <=200bp - A frameshift_variant T751N? STAD-US 5 74893608 74893608 insertion of <=200bp - A frameshift_variant T841N? STAD-US 5 74893609 74893609 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 5 74893609 74893609 insertion of <=200bp - A exon_variant STAD-US 5 74893609 74893609 insertion of <=200bp - A frameshift_variant T643T? STAD-US 5 74893609 74893609 insertion of <=200bp - A frameshift_variant T751T? STAD-US 5 74893609 74893609 insertion of <=200bp - A frameshift_variant T841T? THCA-SA 5 74894818 74894818 single base substitution G A 3_prime_UTR_variant THCA-SA 5 74894818 74894818 single base substitution G A downstream_gene_variant THCA-SA 5 74894818 74894818 single base substitution G A exon_variant UCEC-US 5 74842947 74842947 single base substitution G T 5_prime_UTR_variant UCEC-US 5 74842947 74842947 single base substitution G T exon_variant UCEC-US 5 74842947 74842947 single base substitution G T intron_variant UCEC-US 5 74842947 74842947 single base substitution G T stop_gained E34* 100G>T UCEC-US 5 74848405 74848405 single base substitution G T 5_prime_UTR_variant UCEC-US 5 74848405 74848405 single base substitution G T exon_variant UCEC-US 5 74848405 74848405 single base substitution G T missense_variant A82S 244G>T UCEC-US 5 74865169 74865169 single base substitution A G 3_prime_UTR_variant UCEC-US 5 74865169 74865169 single base substitution A G 5_prime_UTR_variant UCEC-US 5 74865169 74865169 single base substitution A G exon_variant UCEC-US 5 74865169 74865169 single base substitution A G missense_variant D87G 260A>G UCEC-US 5 74872726 74872726 single base substitution A G 3_prime_UTR_variant UCEC-US 5 74872726 74872726 single base substitution A G downstream_gene_variant UCEC-US 5 74872726 74872726 single base substitution A G exon_variant UCEC-US 5 74872726 74872726 single base substitution A G missense_variant Y131C 392A>G UCEC-US 5 74872726 74872726 single base substitution A G missense_variant Y221C 662A>G UCEC-US 5 74879241 74879241 single base substitution A C downstream_gene_variant UCEC-US 5 74879241 74879241 single base substitution A C intron_variant UCEC-US 5 74879241 74879241 single base substitution A C missense_variant K263T 788A>C UCEC-US 5 74879241 74879241 single base substitution A C missense_variant K353T 1058A>C UCEC-US 5 74879241 74879241 single base substitution A C splice_region_variant UCEC-US 5 74880672 74880672 single base substitution C T 3_prime_UTR_variant UCEC-US 5 74880672 74880672 single base substitution C T downstream_gene_variant UCEC-US 5 74880672 74880672 single base substitution C T exon_variant UCEC-US 5 74880672 74880672 single base substitution C T intron_variant UCEC-US 5 74880672 74880672 single base substitution C T missense_variant L293F 877C>T UCEC-US 5 74880672 74880672 single base substitution C T missense_variant L383F 1147C>T UCEC-US 5 74882875 74882875 single base substitution C T 3_prime_UTR_variant UCEC-US 5 74882875 74882875 single base substitution C T downstream_gene_variant UCEC-US 5 74882875 74882875 single base substitution C T exon_variant UCEC-US 5 74882875 74882875 single base substitution C T intron_variant UCEC-US 5 74882875 74882875 single base substitution C T synonymous_variant S327S 981C>T UCEC-US 5 74882875 74882875 single base substitution C T synonymous_variant S417S 1251C>T UCEC-US 5 74886193 74886193 single base substitution G A 3_prime_UTR_variant UCEC-US 5 74886193 74886193 single base substitution G A exon_variant UCEC-US 5 74886193 74886193 single base substitution G A intron_variant UCEC-US 5 74886193 74886193 single base substitution G A synonymous_variant A338A 1014G>A UCEC-US 5 74886193 74886193 single base substitution G A synonymous_variant A428A 1284G>A UCEC-US 5 74886221 74886221 single base substitution C A 3_prime_UTR_variant UCEC-US 5 74886221 74886221 single base substitution C A exon_variant UCEC-US 5 74886221 74886221 single base substitution C A intron_variant UCEC-US 5 74886221 74886221 single base substitution C A missense_variant L348I 1042C>A UCEC-US 5 74886221 74886221 single base substitution C A missense_variant L438I 1312C>A UCEC-US 5 74892378 74892378 single base substitution G T 3_prime_UTR_variant UCEC-US 5 74892378 74892378 single base substitution G T exon_variant UCEC-US 5 74892378 74892378 single base substitution G T intron_variant UCEC-US 5 74892378 74892378 single base substitution G T missense_variant Q422H 1266G>T UCEC-US 5 74892378 74892378 single base substitution G T missense_variant Q530H 1590G>T UCEC-US 5 74892378 74892378 single base substitution G T missense_variant Q620H 1860G>T UCEC-US 5 74892378 74892378 single base substitution G T upstream_gene_variant UCEC-US 5 74892498 74892498 single base substitution G A 3_prime_UTR_variant UCEC-US 5 74892498 74892498 single base substitution G A exon_variant UCEC-US 5 74892498 74892498 single base substitution G A intron_variant UCEC-US 5 74892498 74892498 single base substitution G A synonymous_variant S462S 1386G>A UCEC-US 5 74892498 74892498 single base substitution G A synonymous_variant S570S 1710G>A UCEC-US 5 74892498 74892498 single base substitution G A synonymous_variant S660S 1980G>A UCEC-US 5 74892498 74892498 single base substitution G A upstream_gene_variant UCEC-US 5 74892527 74892527 single base substitution A G 3_prime_UTR_variant UCEC-US 5 74892527 74892527 single base substitution A G exon_variant UCEC-US 5 74892527 74892527 single base substitution A G intron_variant UCEC-US 5 74892527 74892527 single base substitution A G missense_variant N472S 1415A>G UCEC-US 5 74892527 74892527 single base substitution A G missense_variant N580S 1739A>G UCEC-US 5 74892527 74892527 single base substitution A G missense_variant N670S 2009A>G UCEC-US 5 74892527 74892527 single base substitution A G upstream_gene_variant UCEC-US 5 74892605 74892605 single base substitution C A 3_prime_UTR_variant UCEC-US 5 74892605 74892605 single base substitution C A exon_variant UCEC-US 5 74892605 74892605 single base substitution C A intron_variant UCEC-US 5 74892605 74892605 single base substitution C A missense_variant S498Y 1493C>A UCEC-US 5 74892605 74892605 single base substitution C A missense_variant S606Y 1817C>A UCEC-US 5 74892605 74892605 single base substitution C A missense_variant S696Y 2087C>A UCEC-US 5 74892605 74892605 single base substitution C A upstream_gene_variant UCEC-US 5 74892932 74892932 single base substitution G A 3_prime_UTR_variant UCEC-US 5 74892932 74892932 single base substitution G A exon_variant UCEC-US 5 74892932 74892932 single base substitution G A intron_variant UCEC-US 5 74892932 74892932 single base substitution G A missense_variant S607N 1820G>A UCEC-US 5 74892932 74892932 single base substitution G A missense_variant S715N 2144G>A UCEC-US 5 74892932 74892932 single base substitution G A missense_variant S805N 2414G>A UCEC-US 5 74892932 74892932 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD5847a COSM3719758 c.2305T>C p.C769R Substitution - Missense 5:75596998-75596998 + TCGA-G4-6628-01 COSM1438580 c.88G>T p.G30* Substitution - Nonsense 5:75547110-75547110 + TCGA-EE-A2GO-06 COSM3617882 c.256-2A>G p.? Unknown 5:75569338-75569338 + RMS80_ COSM4988696 c.1700T>G p.F567C Substitution - Missense 5:75596393-75596393 + T2941 COSM4716462 c.77C>T p.A26V Substitution - Missense 5:75547099-75547099 + TCGA-BH-A18G-01 COSM3828429 c.304A>G p.T102A Substitution - Missense 5:75569388-75569388 + OVCAR-3 COSM1683167 c.1539delA p.S514fs*34 Deletion - Frameshift 5:75596232-75596232 + CSCC-55-T COSM3073664 c.2194C>T p.P732S Substitution - Missense 5:75596887-75596887 + 587222 COSM1221473 c.2204C>A p.S735Y Substitution - Missense 5:75596897-75596897 + TCGA-AZ-6601-01 COSM1438592 c.1583G>T p.S528I Substitution - Missense 5:75596276-75596276 + TCGA-BR-8589-01 COSM3856308 c.604T>G p.L202V Substitution - Missense 5:75576843-75576843 + TCGA-A5-A0GP-01 COSM1070124 c.1058A>C p.K353T Substitution - Missense 5:75583416-75583416 + HCC2998 COSM3073648 c.1758A>G p.E586E Substitution - coding silent 5:75596451-75596451 + OSCC-GB_01120111 COSM4884658 c.737G>T p.R246L Substitution - Missense 5:75581251-75581251 + TCGA-CD-A4MG-01 COSM3856315 c.1429G>A p.V477I Substitution - Missense 5:75593950-75593950 + TCGA-GC-A3YS-01 COSM3776837 c.814G>A p.E272K Substitution - Missense 5:75581328-75581328 + TCGA-BR-8361-01 COSM3856312 c.1216C>T p.H406Y Substitution - Missense 5:75584916-75584916 + TCGA-B5-A0JR-01 COSM1070137 c.2009A>G p.N670S Substitution - Missense 5:75596702-75596702 + TCGA-EA-A439-01 COSM4843692 c.187C>T p.R63* Substitution - Nonsense 5:75552523-75552523 + TCGA-GC-A3YS-01 COSM3776842 c.1678G>A p.E560K Substitution - Missense 5:75596371-75596371 + ccRCC-49 COSM1663612 c.628G>A p.E210K Substitution - Missense 5:75576867-75576867 + LUAD_E00623 COSM354496 c.1719A>T p.S573S Substitution - coding silent 5:75596412-75596412 + TCGA-AX-A05Z-01 COSM1070135 c.1980G>A p.S660S Substitution - coding silent 5:75596673-75596673 + TCGA-AP-A0LM-01 COSM1070117 c.244G>T p.A82S Substitution - Missense 5:75552580-75552580 + LUAD_E00623 COSM354497 c.1719A>T p.S573S Substitution - coding silent 5:75596412-75596412 + TCGA-BS-A0UV-01 COSM1070132 c.1312C>A p.L438I Substitution - Missense 5:75590396-75590396 + TCGA-F1-6177-01 COSM3856317 c.1552A>G p.N518D Substitution - Missense 5:75596245-75596245 + TCGA-GC-A3YS-01 COSM3776836 c.814G>A p.E272K Substitution - Missense 5:75581328-75581328 + TCGA-AG-3892-01 COSM257774 c.1979C>T p.S660L Substitution - Missense 5:75596672-75596672 + TCGA-AA-A010-01 COSM299429 c.2490C>A p.S830R Substitution - Missense 5:75597751-75597751 + TCGA-CJ-6030-01 COSM483044 c.307A>G p.I103V Substitution - Missense 5:75569391-75569391 + ZZUFHECRKL-G067T COSM5438753 c.1060-6T>C p.? Unknown 5:75584754-75584754 + TCGA-EA-A439-01 COSM4843693 c.187C>T p.R63* Substitution - Nonsense 5:75552523-75552523 + TCGA-A6-A565-01 COSM3073677 c.2602delT p.F869fs*>2 Deletion - Frameshift 5:75598007-75598007 + TCGA-DK-A1AE-01 COSM1311317 c.399G>C p.M133I Substitution - Missense 5:75569483-75569483 + Pat_14_B COSM5868812 c.1894G>A p.G632R Substitution - Missense 5:75596587-75596587 + TCGA-AM-5820-01 COSM3697310 c.1226G>T p.R409M Substitution - Missense 5:75584926-75584926 + TCGA-66-2763-01 COSM739231 c.2504A>G p.Q835R Substitution - Missense 5:75597765-75597765 + Pat_14_B COSM5868811 c.1894G>A p.G632R Substitution - Missense 5:75596587-75596587 + TARGET-30-PASFNY COSM1287300 c.174G>A p.K58K Substitution - coding silent 5:75552510-75552510 + TCGA-A6-A565-01 COSM5095926 c.1249A>T p.S417C Substitution - Missense 5:75587048-75587048 + WA16 COSM241214 c.524G>A p.R175Q Substitution - Missense 5:75573853-75573853 + 585208 COSM326210 c.2291G>T p.R764L Substitution - Missense 5:75596984-75596984 + TCGA-B5-A11E-01 COSM1070126 c.1147C>T p.L383F Substitution - Missense 5:75584847-75584847 + TCGA-EB-A57M-01 COSM3617890 c.603C>T p.Y201Y Substitution - coding silent 5:75576842-75576842 + TCGA-BQ-7044-01 COSM3994439 c.572A>C p.N191T Substitution - Missense 5:75576811-75576811 + TCGA-AP-A056-01 COSM1070121 c.662A>G p.Y221C Substitution - Missense 5:75576901-75576901 + TCGA-D9-A6EC-06 COSM4401261 c.1408C>T p.R470C Substitution - Missense 5:75593929-75593929 + TCGA-18-4083-01 COSM739230 c.2543C>A p.T848K Substitution - Missense 5:75597948-75597948 + TCGA-IR-A3LA-01 COSM4844625 c.319G>A p.D107N Substitution - Missense 5:75569403-75569403 + 585208 COSM326209 c.2291G>T p.R764L Substitution - Missense 5:75596984-75596984 + SS6003149 COSM3965655 c.136-10T>G p.? Unknown 5:75552462-75552462 + PT52 COSM5939449 c.2528G>T p.R843M Substitution - Missense 5:75597789-75597789 + TCGA-DD-A3A2-01 COSM4928909 c.694+1G>C p.? Unknown 5:75576934-75576934 + Gp5D COSM3073640 c.1545delT p.N518fs*30 Deletion - Frameshift 5:75596238-75596238 + D28 COSM5545635 c.2486-1G>A p.? Unknown 5:75597746-75597746 + TCGA-AA-3864-01 COSM5115240 c.287G>T p.S96I Substitution - Missense 5:75569371-75569371 + TCGA-BS-A0UV-01 COSM1070115 c.100G>T p.E34* Substitution - Nonsense 5:75547122-75547122 + S00829 COSM5660108 c.495A>G p.I165M Substitution - Missense 5:75573824-75573824 + TCGA-CD-A4MG-01 COSM3856314 c.1429G>A p.V477I Substitution - Missense 5:75593950-75593950 + TCGA-85-6561-01 COSM739236 c.1874C>A p.P625H Substitution - Missense 5:75596567-75596567 + TCGA-BR-8589-01 COSM3856309 c.604T>G p.L202V Substitution - Missense 5:75576843-75576843 + HCC78T COSM1620547 c.165G>A p.K55K Substitution - coding silent 5:75552501-75552501 + TCGA-CF-A1HR-01 COSM421188 c.538G>C p.E180Q Substitution - Missense 5:75573867-75573867 + 98687 COSM326207 c.505C>T p.P169S Substitution - Missense 5:75573834-75573834 + A9 COSM5351215 c.763G>C p.E255Q Substitution - Missense 5:75581277-75581277 + TCGA-EE-A3AB-06 COSM3617888 c.434G>C p.R145T Substitution - Missense 5:75573763-75573763 + TCGA-A5-A0GP-01 COSM1070123 c.1058A>C p.K353T Substitution - Missense 5:75583416-75583416 + TCGA-39-5016-01 COSM739234 c.2394G>T p.V798V Substitution - coding silent 5:75597087-75597087 + TCGA-EE-A2GO-06 COSM3617881 c.256-2A>G p.? Unknown 5:75569338-75569338 + sysucc-274T COSM5476609 c.480G>A p.L160L Substitution - coding silent 5:75573809-75573809 + 587336 COSM1221474 c.338C>T p.A113V Substitution - Missense 5:75569422-75569422 + TCGA-EE-A20C-06 COSM3617893 c.988A>G p.N330D Substitution - Missense 5:75583346-75583346 + TCGA-AZ-4315-01 COSM1438585 c.892C>T p.R298C Substitution - Missense 5:75581406-75581406 + TCGA-B5-A11N-01 COSM1070139 c.2087C>A p.S696Y Substitution - Missense 5:75596780-75596780 + LP6008051-DNA_A02 COSM5951303 c.1085A>T p.E362V Substitution - Missense 5:75584785-75584785 + ZZUFHECRKL-G067T COSM5438752 c.1060-6T>C p.? Unknown 5:75584754-75584754 + TCGA-D1-A17Q-01 COSM1070127 c.1251C>T p.S417S Substitution - coding silent 5:75587050-75587050 + TCGA-E7-A3Y1-01 COSM3776839 c.1112T>C p.I371T Substitution - Missense 5:75584812-75584812 + TCGA-B5-A11N-01 COSM1070140 c.2087C>A p.S696Y Substitution - Missense 5:75596780-75596780 + CRC-02T COSM5138839 c.188G>A p.R63Q Substitution - Missense 5:75552524-75552524 + PD2203a COSM25650 c.857T>C p.F286S Substitution - Missense 5:75581371-75581371 + TCGA-BR-8680-01 COSM3856306 c.461G>A p.G154E Substitution - Missense 5:75573790-75573790 + CSCC-40-T COSM1438585 c.892C>T p.R298C Substitution - Missense 5:75581406-75581406 + TCGA-AP-A059-01 COSM1070142 c.2414G>A p.S805N Substitution - Missense 5:75597107-75597107 + TCGA-BH-A18G-01 COSM3828430 c.304A>G p.T102A Substitution - Missense 5:75569388-75569388 + TCGA-AP-A056-01 COSM1070122 c.662A>G p.Y221C Substitution - Missense 5:75576901-75576901 + TCGA-AP-A054-01 COSM1070120 c.260A>G p.D87G Substitution - Missense 5:75569344-75569344 + S02243 COSM5677906 c.1681A>T p.M561L Substitution - Missense 5:75596374-75596374 + 587336 COSM1221475 c.338C>T p.A113V Substitution - Missense 5:75569422-75569422 + TCGA-BR-8361-01 COSM3856311 c.1216C>T p.H406Y Substitution - Missense 5:75584916-75584916 + TCGA-B0-5695-01 COSM483046 c.1398A>G p.E466E Substitution - coding silent 5:75593919-75593919 + LUAD-S01315 COSM345773 c.940G>T p.A314S Substitution - Missense 5:75583298-75583298 + LUAD-S01405 COSM399170 c.1046T>A p.L349* Substitution - Nonsense 5:75583404-75583404 + Gp5D COSM3073641 c.1545delT p.N518fs*30 Deletion - Frameshift 5:75596238-75596238 + BN32T COSM1620548 c.961_962insTTGCT p.K321fs*24 Insertion - Frameshift 5:75583319-75583320 + 587222 COSM1221472 c.2204C>A p.S735Y Substitution - Missense 5:75596897-75596897 + TCGA-G3-A25W-01 COSM4927309 c.2190T>C p.S730S Substitution - coding silent 5:75596883-75596883 + Pat_37_B COSM5868806 c.1009C>T p.P337S Substitution - Missense 5:75583367-75583367 + TCGA-AY-4071-01 COSM301388 c.639T>C p.N213N Substitution - coding silent 5:75576878-75576878 + HCC2998 COSM3073649 c.1758A>G p.E586E Substitution - coding silent 5:75596451-75596451 + OSCC-GB_01120111 COSM4884657 c.737G>T p.R246L Substitution - Missense 5:75581251-75581251 + TCGA-IZ-8195-01 COSM3994442 c.1840G>C p.E614Q Substitution - Missense 5:75596533-75596533 + TCGA-BT-A3PJ-01 COSM3776844 c.1701C>G p.F567L Substitution - Missense 5:75596394-75596394 + TCGA-EE-A3AB-06 COSM3617887 c.434G>C p.R145T Substitution - Missense 5:75573763-75573763 + TCGA-AY-4071-01 COSM301387 c.639T>C p.N213N Substitution - coding silent 5:75576878-75576878 + SC_9047 COSM5560318 c.583A>G p.M195V Substitution - Missense 5:75576822-75576822 + PD13765a COSM5793913 c.1427C>G p.S476C Substitution - Missense 5:75593948-75593948 + SC_9047 COSM5560319 c.583A>G p.M195V Substitution - Missense 5:75576822-75576822 + TCGA-BQ-7044-01 COSM3994438 c.572A>C p.N191T Substitution - Missense 5:75576811-75576811 + LUAD-NYU160 COSM370571 c.1908G>T p.L636L Substitution - coding silent 5:75596601-75596601 + TCGA-Q1-A73O-01 COSM4835122 c.727G>T p.E243* Substitution - Nonsense 5:75581241-75581241 + CSCC-40-T COSM1438586 c.892C>T p.R298C Substitution - Missense 5:75581406-75581406 + J30_T COSM3947703 c.538G>T p.E180* Substitution - Nonsense 5:75573867-75573867 + TCGA-DK-A3WW-01 COSM3776846 c.1842G>A p.E614E Substitution - coding silent 5:75596535-75596535 + BD105T COSM5514415 c.1812G>A p.K604K Substitution - coding silent 5:75596505-75596505 + TCGA-AP-A0LM-01 COSM1070130 c.1284G>A p.A428A Substitution - coding silent 5:75590368-75590368 + T578 COSM4716466 c.1450A>G p.I484V Substitution - Missense 5:75593971-75593971 + TCGA-IR-A3LA-01 COSM4844624 c.319G>A p.D107N Substitution - Missense 5:75569403-75569403 + TCGA-BR-8361-01 COSM3073602 c.736C>T p.R246* Substitution - Nonsense 5:75581250-75581250 + BCM723T COSM5347717 c.1814_1816delAGA p.K605delK Deletion - In frame 5:75596507-75596509 + TCGA-B7-5816-01 COSM3856321 c.2310A>G p.E770E Substitution - coding silent 5:75597003-75597003 + PT52 COSM5939450 c.2528G>T p.R843M Substitution - Missense 5:75597789-75597789 + TCGA-BS-A0UV-01 COSM1070131 c.1312C>A p.L438I Substitution - Missense 5:75590396-75590396 + TCGA-F5-6814-01 COSM3429642 c.1536G>A p.R512R Substitution - coding silent 5:75596229-75596229 + PD2213a COSM30462 c.1090A>C p.M364L Substitution - Missense 5:75584790-75584790 + TCGA-DK-A1AE-01 COSM1311318 c.399G>C p.M133I Substitution - Missense 5:75569483-75569483 + TCGA-BS-A0UV-01 COSM1070116 c.100G>T p.E34* Substitution - Nonsense 5:75547122-75547122 + 98687 COSM326208 c.505C>T p.P169S Substitution - Missense 5:75573834-75573834 + YUPAER COSM5403831 c.741C>T p.S247S Substitution - coding silent 5:75581255-75581255 + S02242 COSM5677427 c.919C>G p.L307V Substitution - Missense 5:75581433-75581433 + TCGA-CF-A1HR-01 COSM421187 c.538G>C p.E180Q Substitution - Missense 5:75573867-75573867 + TARGET-30-PASFNY COSM1287299 c.174G>A p.K58K Substitution - coding silent 5:75552510-75552510 + Gp2D COSM3073641 c.1545delT p.N518fs*30 Deletion - Frameshift 5:75596238-75596238 + TCGA-EE-A181-06 COSM3617896 c.2267T>C p.V756A Substitution - Missense 5:75596960-75596960 + CSCC-55-T COSM4475924 c.2026C>T p.P676S Substitution - Missense 5:75596719-75596719 + TCGA-B0-5695-01 COSM483045 c.1398A>G p.E466E Substitution - coding silent 5:75593919-75593919 + BCM723T COSM5347716 c.1814_1816delAGA p.K605delK Deletion - In frame 5:75596507-75596509 + TCGA-A6-5661-01 COSM1438593 c.1708delA p.K571fs*18 Deletion - Frameshift 5:75596401-75596401 + TCGA-AZ-6601-01 COSM1438591 c.1583G>T p.S528I Substitution - Missense 5:75596276-75596276 + BN32T COSM1620549 c.961_962insTTGCT p.K321fs*24 Insertion - Frameshift 5:75583319-75583320 + TCGA-EE-A20C-06 COSM3617884 c.266T>C p.F89S Substitution - Missense 5:75569350-75569350 + Pat_41_B COSM5868808 c.1013A>G p.N338S Substitution - Missense 5:75583371-75583371 + CSCC-55-T COSM3073665 c.2194C>T p.P732S Substitution - Missense 5:75596887-75596887 + CRC-02T COSM5138838 c.188G>A p.R63Q Substitution - Missense 5:75552524-75552524 + TCGA-D5-6530-01 COSM3073608 c.854delT p.F286fs*9 Deletion - Frameshift 5:75581368-75581368 + TCGA-F5-6814-01 COSM3429644 c.2611T>G p.*871E Nonstop extension 5:75598016-75598016 + SW48 COSM3073588 c.313C>T p.H105Y Substitution - Missense 5:75569397-75569397 + TCGA-AN-A046-01 COSM3828433 c.1828T>G p.L610V Substitution - Missense 5:75596521-75596521 + GHE0776 COSM5713500 c.818_821delAACA p.Q274fs*20 Deletion - Frameshift 5:75581332-75581335 + SC_9076 COSM5567115 c.290G>A p.R97Q Substitution - Missense 5:75569374-75569374 + LUAD-S01405 COSM399169 c.1006C>T p.L336F Substitution - Missense 5:75583364-75583364 + TCGA-AZ-4315-01 COSM1438586 c.892C>T p.R298C Substitution - Missense 5:75581406-75581406 + TCGA-AX-A05Z-01 COSM1070136 c.1980G>A p.S660S Substitution - coding silent 5:75596673-75596673 + TCGA-IZ-8195-01 COSM3994441 c.1840G>C p.E614Q Substitution - Missense 5:75596533-75596533 + LAU63 COSM234064 c.935-3A>C p.? Unknown 5:75583290-75583290 + TCGA-AP-A054-01 COSM1070119 c.260A>G p.D87G Substitution - Missense 5:75569344-75569344 + 8053117 COSM3780805 c.2213T>C p.I738T Substitution - Missense 5:75596906-75596906 + TCGA-AM-5820-01 COSM3697309 c.1226G>T p.R409M Substitution - Missense 5:75584926-75584926 + PR-00-1165 COSM246703 c.1714C>T p.R572* Substitution - Nonsense 5:75596407-75596407 + TCGA-EE-A181-06 COSM3617897 c.2267T>C p.V756A Substitution - Missense 5:75596960-75596960 + SW48 COSM3073587 c.313C>T p.H105Y Substitution - Missense 5:75569397-75569397 + TCGA-G4-6628-01 COSM1438579 c.88G>T p.G30* Substitution - Nonsense 5:75547110-75547110 + TCGA-BR-8680-01 COSM3856305 c.461G>A p.G154E Substitution - Missense 5:75573790-75573790 + T2941 COSM4716463 c.77C>T p.A26V Substitution - Missense 5:75547099-75547099 + TCGA-BR-8361-01 COSM3073601 c.736C>T p.R246* Substitution - Nonsense 5:75581250-75581250 + TCGA-B7-5816-01 COSM3856320 c.2310A>G p.E770E Substitution - coding silent 5:75597003-75597003 + PD13765a COSM5793912 c.1427C>G p.S476C Substitution - Missense 5:75593948-75593948 + LUAD-NYU1051S COSM368900 c.469G>A p.A157T Substitution - Missense 5:75573798-75573798 + TCGA-G3-A25W-01 COSM4927310 c.2190T>C p.S730S Substitution - coding silent 5:75596883-75596883 + TCGA-AP-A059-01 COSM1070133 c.1860G>T p.Q620H Substitution - Missense 5:75596553-75596553 + TCGA-CK-4951-01 COSM5152009 c.2287T>A p.Y763N Substitution - Missense 5:75596980-75596980 + D28 COSM5545636 c.2486-1G>A p.? Unknown 5:75597746-75597746 + TCGA-EE-A20C-06 COSM3617894 c.988A>G p.N330D Substitution - Missense 5:75583346-75583346 + YUPAER COSM5403830 c.741C>T p.S247S Substitution - coding silent 5:75581255-75581255 + TCGA-18-4083-01 COSM739229 c.2543C>A p.T848K Substitution - Missense 5:75597948-75597948 + TCGA-B5-A0JR-01 COSM1070138 c.2009A>G p.N670S Substitution - Missense 5:75596702-75596702 + LUAD-S01315 COSM345772 c.940G>T p.A314S Substitution - Missense 5:75583298-75583298 + TCGA-EE-A29E-06 COSM3617878 c.140C>T p.S47F Substitution - Missense 5:75552476-75552476 + TCGA-NH-A5IV-01 COSM5183990 c.2112A>G p.V704V Substitution - coding silent 5:75596805-75596805 + TCGA-AG-3892-01 COSM257775 c.1979C>T p.S660L Substitution - Missense 5:75596672-75596672 + LP6008051-DNA_A02 COSM5951304 c.1085A>T p.E362V Substitution - Missense 5:75584785-75584785 + TCGA-F5-6814-01 COSM3429645 c.2611T>G p.*871E Nonstop extension 5:75598016-75598016 + TCGA-DD-A3A2-01 COSM4928910 c.694+1G>C p.? Unknown 5:75576934-75576934 + 254891 COSM3724657 c.2534G>T p.G845V Substitution - Missense 5:75597939-75597939 + TCGA-CJ-6030-01 COSM483043 c.307A>G p.I103V Substitution - Missense 5:75569391-75569391 + J30_T COSM3947702 c.538G>T p.E180* Substitution - Nonsense 5:75573867-75573867 + TCGA-EE-A29E-06 COSM3617879 c.140C>T p.S47F Substitution - Missense 5:75552476-75552476 + Au4 COSM5604558 c.1100C>T p.A367V Substitution - Missense 5:75584800-75584800 + TCGA-AZ-4313-01 COSM5138839 c.188G>A p.R63Q Substitution - Missense 5:75552524-75552524 + TCGA-BR-8680-01 COSM3856318 c.1769A>G p.K590R Substitution - Missense 5:75596462-75596462 + OVCAR-3 COSM1683166 c.1539delA p.S514fs*34 Deletion - Frameshift 5:75596232-75596232 + PR-00-1165 COSM246704 c.1714C>T p.R572* Substitution - Nonsense 5:75596407-75596407 + SS6003149 COSM3965654 c.136-10T>G p.? Unknown 5:75552462-75552462 + TCGA-F5-6814-01 COSM3429643 c.1536G>A p.R512R Substitution - coding silent 5:75596229-75596229 + RMS80_ COSM4988695 c.1700T>G p.F567C Substitution - Missense 5:75596393-75596393 + LAU63 COSM234065 c.935-3A>C p.? Unknown 5:75583290-75583290 + TCGA-D1-A17Q-01 COSM1070128 c.1251C>T p.S417S Substitution - coding silent 5:75587050-75587050 + LUAD-S01405 COSM399168 c.1006C>T p.L336F Substitution - Missense 5:75583364-75583364 + TCGA-85-6561-01 COSM739235 c.1874C>A p.P625H Substitution - Missense 5:75596567-75596567 + TCGA-IR-A3LA-01 COSM4845043 c.373G>A p.D125N Substitution - Missense 5:75569457-75569457 + S02242 COSM5677426 c.919C>G p.L307V Substitution - Missense 5:75581433-75581433 + TCGA-AP-A0LM-01 COSM1070118 c.244G>T p.A82S Substitution - Missense 5:75552580-75552580 + ccRCC-49 COSM1663613 c.628G>A p.E210K Substitution - Missense 5:75576867-75576867 + HCC78T COSM1620546 c.165G>A p.K55K Substitution - coding silent 5:75552501-75552501 + TCGA-BR-8680-01 COSM3856319 c.1769A>G p.K590R Substitution - Missense 5:75596462-75596462 + Au4 COSM5604557 c.1100C>T p.A367V Substitution - Missense 5:75584800-75584800 + TCGA-F1-6177-01 COSM3856316 c.1552A>G p.N518D Substitution - Missense 5:75596245-75596245 + TCGA-Q1-A73O-01 COSM4835123 c.727G>T p.E243* Substitution - Nonsense 5:75581241-75581241 + TCGA-24-0979-01 COSM80368 c.294T>C p.N98N Substitution - coding silent 5:75569378-75569378 + TCGA-AA-A010-01 COSM299428 c.2490C>A p.S830R Substitution - Missense 5:75597751-75597751 + ESCC-078T COSM3941371 c.832C>G p.Q278E Substitution - Missense 5:75581346-75581346 + TCGA-66-2763-01 COSM739232 c.2504A>G p.Q835R Substitution - Missense 5:75597765-75597765 + TCGA-CK-4951-01 COSM5152011 c.2607T>A p.F869L Substitution - Missense 5:75598012-75598012 + S00829 COSM5660107 c.495A>G p.I165M Substitution - Missense 5:75573824-75573824 + TCGA-D9-A6EC-06 COSM4401262 c.1408C>T p.R470C Substitution - Missense 5:75593929-75593929 + TCGA-GC-A3YS-01 COSM3776843 c.1678G>A p.E560K Substitution - Missense 5:75596371-75596371 + ESCC-078T COSM3941372 c.832C>G p.Q278E Substitution - Missense 5:75581346-75581346 + WA16 COSM241213 c.524G>A p.R175Q Substitution - Missense 5:75573853-75573853 + TCGA-E7-A3Y1-01 COSM3776840 c.1112T>C p.I371T Substitution - Missense 5:75584812-75584812 + LUAD-NYU1051S COSM368899 c.469G>A p.A157T Substitution - Missense 5:75573798-75573798 + T578 COSM4716465 c.1450A>G p.I484V Substitution - Missense 5:75593971-75593971 + 8053117 COSM3780806 c.2213T>C p.I738T Substitution - Missense 5:75596906-75596906 + TCGA-IR-A3LA-01 COSM4845044 c.373G>A p.D125N Substitution - Missense 5:75569457-75569457 + TCGA-AM-5821-01 COSM3697310 c.1226G>T p.R409M Substitution - Missense 5:75584926-75584926 + 254891 COSM3724656 c.2534G>T p.G845V Substitution - Missense 5:75597939-75597939 + TCGA-AP-A059-01 COSM1070141 c.2414G>A p.S805N Substitution - Missense 5:75597107-75597107 + S02243 COSM5677905 c.1681A>T p.M561L Substitution - Missense 5:75596374-75596374 + CSCC-55-T COSM4475923 c.2026C>T p.P676S Substitution - Missense 5:75596719-75596719 + TCGA-AG-4015-01 COSM5071377 c.1807_1809delAAG p.K605delK Deletion - In frame 5:75596500-75596502 + sysucc-274T COSM5476608 c.480G>A p.L160L Substitution - coding silent 5:75573809-75573809 + TCGA-AG-A002-01 COSM263031 c.1845T>C p.N615N Substitution - coding silent 5:75596538-75596538 + TCGA-AP-A0LM-01 COSM1070129 c.1284G>A p.A428A Substitution - coding silent 5:75590368-75590368 + TCGA-B5-A11E-01 COSM1070125 c.1147C>T p.L383F Substitution - Missense 5:75584847-75584847 + TCGA-EE-A20C-06 COSM3617885 c.266T>C p.F89S Substitution - Missense 5:75569350-75569350 + HCC78 COSM1620547 c.165G>A p.K55K Substitution - coding silent 5:75552501-75552501 + TCGA-AP-A059-01 COSM1070134 c.1860G>T p.Q620H Substitution - Missense 5:75596553-75596553 + TCGA-DK-A3WW-01 COSM3776847 c.1842G>A p.E614E Substitution - coding silent 5:75596535-75596535 + TCGA-AG-A002-01 COSM263032 c.1845T>C p.N615N Substitution - coding silent 5:75596538-75596538 + GHE0776 COSM5713501 c.818_821delAACA p.Q274fs*20 Deletion - Frameshift 5:75581332-75581335 + BD105T COSM5514416 c.1812G>A p.K604K Substitution - coding silent 5:75596505-75596505 + TCGA-AN-A046-01 COSM3828432 c.1828T>G p.L610V Substitution - Missense 5:75596521-75596521 + TCGA-AG-4015-01 COSM5071378 c.1807_1809delAAG p.K605delK Deletion - In frame 5:75596500-75596502 + SC_9076 COSM5567116 c.290G>A p.R97Q Substitution - Missense 5:75569374-75569374 + A9 COSM5351216 c.763G>C p.E255Q Substitution - Missense 5:75581277-75581277 + PD5847a COSM3719757 c.2305T>C p.C769R Substitution - Missense 5:75596998-75596998 + Gp2D COSM3073640 c.1545delT p.N518fs*30 Deletion - Frameshift 5:75596238-75596238 + Pat_37_B COSM5868805 c.1009C>T p.P337S Substitution - Missense 5:75583367-75583367 + TCGA-BT-A3PJ-01 COSM3776845 c.1701C>G p.F567L Substitution - Missense 5:75596394-75596394 + HCC78 COSM1620546 c.165G>A p.K55K Substitution - coding silent 5:75552501-75552501 + LUAD-NYU160 COSM370570 c.1908G>T p.L636L Substitution - coding silent 5:75596601-75596601 + LUAD-S01405 COSM399171 c.1046T>A p.L349* Substitution - Nonsense 5:75583404-75583404 + TCGA-59-2350-01 COSM72246 c.143G>T p.R48I Substitution - Missense 5:75552479-75552479 + TCGA-39-5016-01 COSM739233 c.2394G>T p.V798V Substitution - coding silent 5:75597087-75597087 + TCGA-EB-A57M-01 COSM3617891 c.603C>T p.Y201Y Substitution - coding silent 5:75576842-75576842 + Pat_41_B COSM5868809 c.1013A>G p.N338S Substitution - Missense 5:75583371-75583371 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.732100;Hs.732102;Hs.732103;Hs.732105 5q13 605650

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K353T c.1058A>C 5 74879241 UCEC A G IntronicSNV . c.1356+49A>G 5 74886314 HC A G Missense p.D87G c.260A>G 5 74865169 UCEC A G Missense p.I103V c.307A>G 5 74865216 RCCC A G Missense p.N330D c.988A>G 5 74879171 CM A G Missense p.N518D c.1552A>G 5 74892070 STAD A G Missense p.N670S c.2009A>G 5 74892527 UCEC A G Missense p.Q835R c.2504A>G 5 74893590 LUSC A G Missense p.S566G c.1696A>G 5 74892214 LUAD A G SpliceAcceptorSNV . c.256-2A>G 5 74865163 CM A G Synonymous p.E770E c.2310A>G 5 74892828 STAD C A Missense p.P625H c.1874C>A 5 74892392 LUSC C A Missense p.T848K c.2543C>A 5 74893773 LUSC C G 3-UTRSNV . c.2610+1792C>G 5 74895632 CLL C G Missense p.F567L c.1701C>G 5 74892219 BLCA C G Missense p.I346M c.1038C>G 5 74879221 HNSC C T Missense p.P169S c.505C>T 5 74869659 SCLC C T Missense p.P503L c.1508C>T 5 74889854 CM C T Missense p.R298C c.892C>T 5 74877231 CM C T Synonymous p.S399S c.1197C>T 5 74880722 LUAD G A Missense p.D109N c.325G>A 5 74865234 LUAD G A Missense p.G510D c.1529G>A 5 74892047 HNSC G A Missense p.G510S c.1528G>A 5 74889874 RCCC G A Synonymous p.K58K c.174G>A 5 74848335 NB G C Missense p.E180Q c.538G>C 5 74869692 BLCA G C Missense p.M133I c.399G>C 5 74865308 BLCA G C Missense p.R145T c.434G>C 5 74869588 CM G T Missense p.R48I c.143G>T 5 74848304 OV G T Missense p.R764L c.2291G>T 5 74892809 SCLC G T Missense p.S824I c.2471G>T 5 74892989 LUAD G T SpliceDonorSNV . c.1528+1G>T 5 74889875 BRCA G T Synonymous p.L136L c.408G>T 5 74865317 HNSC G T Synonymous p.V798V c.2394G>T 5 74892912 LUSC T C 3-UTRSNV . c.2610+2217T>C 5 74896057 HC T C Missense p.F89S c.266T>C 5 74865175 CM T C Missense p.V756A c.2267T>C 5 74892785 CM T C Synonymous p.N213N c.639T>C 5 74872703 COREAD T C Synonymous p.N518N c.1554T>C 5 74892072 CM T C Synonymous p.N98N c.294T>C 5 74865203 OV