Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 6 146121439 146121439 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr6:146121439G>A c.2041C>T c.(2041-2043)Cga>Tga p.R681* BLCA 6 146125779 146125779 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr6:146125779C>G c.1763G>C c.(1762-1764)gGa>gCa p.G588A BLCA 6 146125833 146125833 + Missense_Mutation SNP C C A TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr6:146125833C>A c.1709G>T c.(1708-1710)tGt>tTt p.C570F BLCA 6 146126928 146126928 + Missense_Mutation SNP C C G TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr6:146126928C>G c.614G>C c.(613-615)aGa>aCa p.R205T BLCA 6 146127103 146127103 + Missense_Mutation SNP C C T TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr6:146127103C>T c.439G>A c.(439-441)Gat>Aat p.D147N BLCA 6 146127160 146127160 + Missense_Mutation SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr6:146127160C>G c.382G>C c.(382-384)Gac>Cac p.D128H BLCA 6 146127452 146127452 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr6:146127452C>G c.90G>C c.(88-90)ttG>ttC p.L30F BRCA 6 146125879 146125879 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:146125879A>C c.1663T>G c.(1663-1665)Tgc>Ggc p.C555G BRCA 6 146126058 146126058 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 g.chr6:146126058G>A c.1484C>T c.(1483-1485)cCg>cTg p.P495L BRCA 6 146126299 146126299 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr6:146126299C>T c.1243G>A c.(1243-1245)Gaa>Aaa p.E415K BRCA 6 146126453 146126453 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:146126453A>C c.1089T>G c.(1087-1089)ggT>ggG p.G363G BRCA 6 146126544 146126544 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr6:146126544A>C c.998T>G c.(997-999)gTg>gGg p.V333G BRCA 6 146126650 146126650 + Missense_Mutation SNP C C T TCGA-E2-A10C-01A-21D-A10M-09 TCGA-E2-A10C-10A-01D-A10M-09 g.chr6:146126650C>T c.892G>A c.(892-894)Gac>Aac p.D298N BRCA 6 146127358 146127358 + Missense_Mutation SNP T T G TCGA-AO-A03V-01A-11D-A10Y-09 TCGA-AO-A03V-10A-01D-A110-09 g.chr6:146127358T>G c.184A>C c.(184-186)Aat>Cat p.N62H CESC 6 146125682 146125682 + Silent SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr6:146125682G>T c.1860C>A c.(1858-1860)gtC>gtA p.V620V COAD 6 146121412 146121412 + Missense_Mutation SNP T T G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:146121412T>G c.2068A>C c.(2068-2070)Aat>Cat p.N690H COAD 6 146125580 146125580 + Silent SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:146125580A>G c.1962T>C c.(1960-1962)cgT>cgC p.R654R COAD 6 146125580 146125580 + Silent SNP A A G TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr6:146125580A>G c.1962T>C c.(1960-1962)cgT>cgC p.R654R COAD 6 146125931 146125931 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:146125931C>A c.1611G>T c.(1609-1611)aaG>aaT p.K537N COAD 6 146126292 146126292 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:146126292G>T c.1250C>A c.(1249-1251)cCt>cAt p.P417H COAD 6 146126320 146126320 + Missense_Mutation SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:146126320T>C c.1222A>G c.(1222-1224)Aca>Gca p.T408A COAD 6 146126645 146126645 + Missense_Mutation SNP C C G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr6:146126645C>G c.897G>C c.(895-897)caG>caC p.Q299H COAD 6 146126871 146126871 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:146126871G>A c.671C>T c.(670-672)gCg>gTg p.A224V COAD 6 146126918 146126918 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:146126918G>A c.624C>T c.(622-624)ggC>ggT p.G208G COAD 6 146127060 146127060 + Missense_Mutation SNP C C T TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:146127060C>T c.482G>A c.(481-483)aGt>aAt p.S161N COAD 6 146127393 146127393 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr6:146127393C>T c.149G>A c.(148-150)cGa>cAa p.R50Q COAD 6 146127468 146127468 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:146127468C>T c.74G>A c.(73-75)gGg>gAg p.G25E COAD 6 146127520 146127520 + Missense_Mutation SNP A A G TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr6:146127520A>G c.22T>C c.(22-24)Tcc>Ccc p.S8P COAD 6 146127520 146127520 + Missense_Mutation SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr6:146127520A>G c.22T>C c.(22-24)Tcc>Ccc p.S8P COADREAD 6 146121412 146121412 + Missense_Mutation SNP T T G TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr6:146121412T>G c.2068A>C c.(2068-2070)Aat>Cat p.N690H COADREAD 6 146125580 146125580 + Silent SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr6:146125580A>G c.1962T>C c.(1960-1962)cgT>cgC p.R654R COADREAD 6 146125580 146125580 + Silent SNP A A G TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr6:146125580A>G c.1962T>C c.(1960-1962)cgT>cgC p.R654R COADREAD 6 146125931 146125931 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:146125931C>A c.1611G>T c.(1609-1611)aaG>aaT p.K537N COADREAD 6 146126292 146126292 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr6:146126292G>T c.1250C>A c.(1249-1251)cCt>cAt p.P417H COADREAD 6 146126320 146126320 + Missense_Mutation SNP T T C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr6:146126320T>C c.1222A>G c.(1222-1224)Aca>Gca p.T408A COADREAD 6 146126645 146126645 + Missense_Mutation SNP C C G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chr6:146126645C>G c.897G>C c.(895-897)caG>caC p.Q299H COADREAD 6 146126871 146126871 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr6:146126871G>A c.671C>T c.(670-672)gCg>gTg p.A224V COADREAD 6 146126918 146126918 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr6:146126918G>A c.624C>T c.(622-624)ggC>ggT p.G208G COADREAD 6 146127060 146127060 + Missense_Mutation SNP C C T TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr6:146127060C>T c.482G>A c.(481-483)aGt>aAt p.S161N COADREAD 6 146127393 146127393 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr6:146127393C>T c.149G>A c.(148-150)cGa>cAa p.R50Q COADREAD 6 146127468 146127468 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr6:146127468C>T c.74G>A c.(73-75)gGg>gAg p.G25E COADREAD 6 146127520 146127520 + Missense_Mutation SNP A A G TCGA-D5-6920-01A-11D-1924-10 TCGA-D5-6920-10A-01D-1924-10 g.chr6:146127520A>G c.22T>C c.(22-24)Tcc>Ccc p.S8P COADREAD 6 146127520 146127520 + Missense_Mutation SNP A A G TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr6:146127520A>G c.22T>C c.(22-24)Tcc>Ccc p.S8P GBMLGG 6 146125579 146125579 + Missense_Mutation SNP C C T TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr6:146125579C>T c.1963G>A c.(1963-1965)Ggc>Agc p.G655S GBMLGG 6 146126348 146126348 + Silent SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 g.chr6:146126348A>G c.1194T>C c.(1192-1194)tcT>tcC p.S398S GBMLGG 6 146127055 146127055 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:146127055G>T c.487C>A c.(487-489)Cca>Aca p.P163T GBMLGG 6 146127372 146127372 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:146127372C>T c.170G>A c.(169-171)cGa>cAa p.R57Q HNSC 6 146126431 146126431 + Missense_Mutation SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr6:146126431C>T c.1111G>A c.(1111-1113)Gac>Aac p.D371N HNSC 6 146126460 146126460 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:146126460C>T c.1082G>A c.(1081-1083)gGt>gAt p.G361D HNSC 6 146126695 146126695 + Missense_Mutation SNP G G C TCGA-QK-A6VC-01A-23D-A34J-08 TCGA-QK-A6VC-10B-01D-A34M-08 g.chr6:146126695G>C c.847C>G c.(847-849)Ctt>Gtt p.L283V HNSC 6 146126707 146126708 + Frame_Shift_Ins INS - - A TCGA-CV-5430-01A-02D-1683-08 TCGA-CV-5430-10A-01D-1870-08 g.chr6:146126707_146126708insA c.834_835insT c.(832-837)tatgacfs p.D279fs HNSC 6 146127529 146127529 + Silent SNP G G A TCGA-CN-6024-01A-11D-1683-08 TCGA-CN-6024-10A-01D-1683-08 g.chr6:146127529G>A c.13C>T c.(13-15)Ctg>Ttg p.L5L KIPAN 6 146126628 146126628 + Missense_Mutation SNP C C T TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr6:146126628C>T c.914G>A c.(913-915)gGt>gAt p.G305D KIPAN 6 146126842 146126842 + Missense_Mutation SNP T T C TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr6:146126842T>C c.700A>G c.(700-702)Aaa>Gaa p.K234E KIRC 6 146126842 146126842 + Missense_Mutation SNP T T C TCGA-CJ-5683-01A-11D-1534-10 TCGA-CJ-5683-11A-01D-1535-10 g.chr6:146126842T>C c.700A>G c.(700-702)Aaa>Gaa p.K234E KIRP 6 146126628 146126628 + Missense_Mutation SNP C C T TCGA-HE-A5NL-01A-11D-A26P-10 TCGA-HE-A5NL-10A-01D-A26P-10 g.chr6:146126628C>T c.914G>A c.(913-915)gGt>gAt p.G305D LAML 6 146125956 146125956 + Missense_Mutation SNP C C T TCGA-AB-2818-03B-01W-0728-08 TCGA-AB-2818-11B-01W-0728-08 g.chr6:146125956C>T c.1586G>A c.(1585-1587)aGg>aAg p.R529K LGG 6 146125579 146125579 + Missense_Mutation SNP C C T TCGA-TQ-A7RN-01A-11D-A33T-08 TCGA-TQ-A7RN-10A-01D-A33W-08 g.chr6:146125579C>T c.1963G>A c.(1963-1965)Ggc>Agc p.G655S LGG 6 146126348 146126348 + Silent SNP A A G TCGA-HT-A5R5-01A-11D-A289-08 TCGA-HT-A5R5-10A-01D-A289-08 g.chr6:146126348A>G c.1194T>C c.(1192-1194)tcT>tcC p.S398S LGG 6 146127055 146127055 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:146127055G>T c.487C>A c.(487-489)Cca>Aca p.P163T LGG 6 146127372 146127372 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr6:146127372C>T c.170G>A c.(169-171)cGa>cAa p.R57Q LIHC 6 146127013 146127013 + Missense_Mutation SNP C C G TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr6:146127013C>G c.529G>C c.(529-531)Gaa>Caa p.E177Q LUAD 6 146121368 146121368 + Missense_Mutation SNP C C G TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr6:146121368C>G c.2112G>C c.(2110-2112)ttG>ttC p.L704F LUAD 6 146121371 146121371 + Missense_Mutation SNP G G T TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr6:146121371G>T c.2109C>A c.(2107-2109)caC>caA p.H703Q LUAD 6 146125711 146125711 + Missense_Mutation SNP C C A TCGA-97-A4M3-01A-11D-A24P-08 TCGA-97-A4M3-10A-01D-A24P-08 g.chr6:146125711C>A c.1831G>T c.(1831-1833)Gac>Tac p.D611Y LUAD 6 146125936 146125936 + Missense_Mutation SNP A A G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr6:146125936A>G c.1606T>C c.(1606-1608)Ttt>Ctt p.F536L LUAD 6 146126130 146126130 + Missense_Mutation SNP C C G TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr6:146126130C>G c.1412G>C c.(1411-1413)aGt>aCt p.S471T LUAD 6 146126176 146126176 + Missense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:146126176C>A c.1366G>T c.(1366-1368)Gtt>Ttt p.V456F LUAD 6 146127354 146127354 + Missense_Mutation SNP C C G TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr6:146127354C>G c.188G>C c.(187-189)aGt>aCt p.S63T LUAD 6 146127505 146127505 + Missense_Mutation SNP A A G TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr6:146127505A>G c.37T>C c.(37-39)Tgt>Cgt p.C13R LUSC 6 146125854 146125854 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr6:146125854G>A c.1688C>T c.(1687-1689)aCc>aTc p.T563I LUSC 6 146126164 146126164 + Missense_Mutation SNP T T C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr6:146126164T>C c.1378A>G c.(1378-1380)Act>Gct p.T460A LUSC 6 146126628 146126628 + Missense_Mutation SNP C C T TCGA-34-2608-01A-02D-1522-08 TCGA-34-2608-11A-01D-1522-08 g.chr6:146126628C>T c.914G>A c.(913-915)gGt>gAt p.G305D LUSC 6 146127417 146127417 + Missense_Mutation SNP T T A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr6:146127417T>A c.125A>T c.(124-126)cAt>cTt p.H42L OV 6 146125581 146125581 + Missense_Mutation SNP C C T TCGA-13-0919-01A-01W-0419-10 TCGA-13-0919-10A-01W-0419-10 g.chr6:146125581C>T c.1961G>A c.(1960-1962)cGt>cAt p.R654H OV 6 146127275 146127275 + Silent SNP G G A TCGA-24-1427-01A-01W-0549-09 TCGA-24-1427-10A-01W-0549-09 g.chr6:146127275G>A c.267C>T c.(265-267)tgC>tgT p.C89C PAAD 6 146126966 146126966 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr6:146126966A>C c.576T>G c.(574-576)agT>agG p.S192R PRAD 6 146125919 146125919 + Silent SNP A A C TCGA-EJ-A65B-01A-12D-A30E-08 TCGA-EJ-A65B-10A-01D-A30H-08 g.chr6:146125919A>C c.1623T>G c.(1621-1623)ggT>ggG p.G541G PRAD 6 146126587 146126587 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr6:146126587C>T c.955G>A c.(955-957)Gca>Aca p.A319T SARC 6 146126375 146126375 + Missense_Mutation SNP G G T TCGA-IE-A4EH-01A-11D-A24N-09 TCGA-IE-A4EH-10A-01D-A24N-09 g.chr6:146126375G>T c.1167C>A c.(1165-1167)ttC>ttA p.F389L SKCM 6 146121323 146121323 + Silent SNP G G T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr6:146121323G>T c.2157C>A c.(2155-2157)atC>atA p.I719I SKCM 6 146126358 146126358 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr6:146126358G>A c.1184C>T c.(1183-1185)tCa>tTa p.S395L SKCM 6 146126700 146126700 + Missense_Mutation SNP G G T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr6:146126700G>T c.842C>A c.(841-843)tCt>tAt p.S281Y SKCM 6 146127122 146127122 + Silent SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr6:146127122G>A c.420C>T c.(418-420)acC>acT p.T140T SKCM 6 146127185 146127185 + Silent SNP T T C TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr6:146127185T>C c.357A>G c.(355-357)caA>caG p.Q119Q SKCM 6 146127223 146127223 + Missense_Mutation SNP A A C TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr6:146127223A>C c.319T>G c.(319-321)Tat>Gat p.Y107D SKCM 6 146127256 146127256 + Nonsense_Mutation SNP G G A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr6:146127256G>A c.286C>T c.(286-288)Cga>Tga p.R96* SKCM 6 146127418 146127418 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr6:146127418G>A c.124C>T c.(124-126)Cat>Tat p.H42Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 6 146125702 146125702 single base substitution T G missense_variant S614R 1840A>C BLCA-CN 6 146126452 146126452 single base substitution C T missense_variant E364K 1090G>A BLCA-US 6 146127103 146127103 single base substitution C T missense_variant D147N 439G>A BLCA-US 6 146127160 146127160 single base substitution C G missense_variant D128H 382G>C BRCA-EU 6 146110637 146110637 single base substitution G C downstream_gene_variant BRCA-EU 6 146111424 146111424 single base substitution C G downstream_gene_variant BRCA-EU 6 146112225 146112225 single base substitution C T downstream_gene_variant BRCA-EU 6 146113833 146113833 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 146115380 146115380 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 146115560 146115560 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 146116096 146116096 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 6 146116145 146116145 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 146117525 146117525 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 146117732 146117732 single base substitution T A 3_prime_UTR_variant BRCA-EU 6 146117994 146117994 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 146118745 146118745 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 146120022 146120022 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 6 146120156 146120156 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 6 146120783 146120785 deletion of <=200bp ATT - 3_prime_UTR_variant BRCA-EU 6 146121341 146121341 single base substitution C G missense_variant E713D 2139G>C BRCA-EU 6 146121459 146121459 single base substitution C G intron_variant BRCA-EU 6 146121491 146121491 single base substitution G T intron_variant BRCA-EU 6 146123576 146123576 single base substitution T G intron_variant BRCA-EU 6 146124308 146124308 single base substitution C G intron_variant BRCA-EU 6 146124750 146124750 single base substitution G A intron_variant BRCA-EU 6 146127945 146127945 single base substitution A G intron_variant BRCA-EU 6 146130460 146130460 single base substitution G A intron_variant BRCA-EU 6 146130689 146130689 single base substitution A C intron_variant BRCA-EU 6 146131335 146131335 single base substitution G A intron_variant BRCA-EU 6 146132209 146132209 single base substitution C G intron_variant BRCA-EU 6 146132333 146132333 single base substitution G T intron_variant BRCA-EU 6 146133739 146133739 single base substitution C T intron_variant BRCA-EU 6 146133788 146133788 deletion of <=200bp A - intron_variant BRCA-EU 6 146133991 146133991 single base substitution C T intron_variant BRCA-EU 6 146135686 146135686 single base substitution C A intron_variant BRCA-EU 6 146136184 146136184 single base substitution C T upstream_gene_variant BRCA-EU 6 146138051 146138051 single base substitution T G upstream_gene_variant BRCA-EU 6 146139416 146139416 single base substitution G C upstream_gene_variant BRCA-EU 6 146139718 146139718 single base substitution C G upstream_gene_variant BRCA-FR 6 146114573 146114573 single base substitution G T downstream_gene_variant BRCA-FR 6 146129216 146129216 single base substitution C T intron_variant BRCA-FR 6 146132209 146132209 single base substitution C G intron_variant BRCA-FR 6 146135171 146135171 single base substitution C T intron_variant BRCA-UK 6 146112225 146112225 single base substitution C T downstream_gene_variant BRCA-UK 6 146125594 146125594 single base substitution G C missense_variant L650V 1948C>G BRCA-US 6 146125879 146125879 single base substitution A C missense_variant C555G 1663T>G BRCA-US 6 146126058 146126058 single base substitution G A missense_variant P495L 1484C>T BRCA-US 6 146126299 146126299 single base substitution C T missense_variant E415K 1243G>A BRCA-US 6 146126453 146126453 single base substitution A C synonymous_variant G363G 1089T>G BRCA-US 6 146126544 146126544 single base substitution A C missense_variant V333G 998T>G BRCA-US 6 146126650 146126650 single base substitution C T missense_variant D298N 892G>A BRCA-US 6 146127358 146127358 single base substitution T G missense_variant N62H 184A>C BTCA-JP 6 146126685 146126685 single base substitution C T missense_variant G286D 857G>A BTCA-JP 6 146127199 146127199 single base substitution C T missense_variant D115N 343G>A CESC-US 6 146125682 146125682 single base substitution G T synonymous_variant V620V 1860C>A CLLE-ES 6 146131904 146131904 single base substitution T C intron_variant COAD-US 6 146121412 146121412 single base substitution T G missense_variant N690H 2068A>C COAD-US 6 146125931 146125931 single base substitution C A missense_variant K537N 1611G>T COAD-US 6 146126918 146126918 single base substitution G A synonymous_variant G208G 624C>T COAD-US 6 146127060 146127060 single base substitution C T missense_variant S161N 482G>A COAD-US 6 146127468 146127468 single base substitution C T missense_variant G25E 74G>A COCA-CN 6 146121194 146121194 single base substitution G T 3_prime_UTR_variant COCA-CN 6 146121459 146121459 single base substitution C G intron_variant COCA-CN 6 146126272 146126272 single base substitution C A missense_variant D424Y 1270G>T COCA-CN 6 146127200 146127200 single base substitution G A synonymous_variant V114V 342C>T COCA-CN 6 146127448 146127448 single base substitution C A missense_variant G32C 94G>T COCA-CN 6 146129347 146129347 single base substitution A G intron_variant COCA-CN 6 146135709 146135709 single base substitution G A intron_variant COCA-CN 6 146136370 146136370 single base substitution C G upstream_gene_variant EOPC-DE 6 146120567 146120567 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 146109662 146109662 single base substitution T G downstream_gene_variant ESAD-UK 6 146111304 146111304 single base substitution G A downstream_gene_variant ESAD-UK 6 146111421 146111421 single base substitution T A downstream_gene_variant ESAD-UK 6 146111519 146111519 single base substitution T G downstream_gene_variant ESAD-UK 6 146111622 146111622 single base substitution G A downstream_gene_variant ESAD-UK 6 146112240 146112240 single base substitution C T downstream_gene_variant ESAD-UK 6 146112293 146112293 single base substitution C A downstream_gene_variant ESAD-UK 6 146112613 146112613 single base substitution T G downstream_gene_variant ESAD-UK 6 146112786 146112786 single base substitution T C downstream_gene_variant ESAD-UK 6 146117184 146117184 single base substitution T A 3_prime_UTR_variant ESAD-UK 6 146118611 146118611 single base substitution G A 3_prime_UTR_variant ESAD-UK 6 146120666 146120666 single base substitution A T 3_prime_UTR_variant ESAD-UK 6 146121037 146121037 single base substitution C T 3_prime_UTR_variant ESAD-UK 6 146121309 146121309 single base substitution A G missense_variant M724T 2171T>C ESAD-UK 6 146121472 146121472 single base substitution A T intron_variant ESAD-UK 6 146121911 146121911 single base substitution C T intron_variant ESAD-UK 6 146125632 146125632 single base substitution G T stop_gained S637* 1910C>A ESAD-UK 6 146128964 146128964 single base substitution A C intron_variant ESAD-UK 6 146132520 146132520 single base substitution C A intron_variant ESAD-UK 6 146132596 146132602 deletion of <=200bp CTGTTTT - intron_variant ESAD-UK 6 146134951 146134951 single base substitution T A intron_variant ESAD-UK 6 146137211 146137211 single base substitution G A upstream_gene_variant ESAD-UK 6 146139164 146139164 single base substitution C T upstream_gene_variant ESCA-CN 6 146127292 146127292 single base substitution G C missense_variant P84A 250C>G KIRC-US 6 146126842 146126842 single base substitution T C missense_variant K234E 700A>G KIRP-US 6 146126628 146126628 single base substitution C T missense_variant G305D 914G>A LGG-US 6 146126348 146126348 single base substitution A G synonymous_variant S398S 1194T>C LICA-FR 6 146110231 146110231 single base substitution C T downstream_gene_variant LICA-FR 6 146122921 146122921 single base substitution T G intron_variant LICA-FR 6 146127094 146127094 single base substitution A G missense_variant S150P 448T>C LICA-FR 6 146132223 146132229 deletion of <=200bp AAGCTAT - intron_variant LICA-FR 6 146133924 146133924 single base substitution T C intron_variant LIHC-US 6 146127013 146127013 single base substitution C G missense_variant E177Q 529G>C LINC-JP 6 146110053 146110053 single base substitution C T downstream_gene_variant LINC-JP 6 146114777 146114777 single base substitution A C 3_prime_UTR_variant LINC-JP 6 146121268 146121268 single base substitution G A missense_variant R738C 2212C>T LIRI-JP 6 146110822 146110822 single base substitution T C downstream_gene_variant LIRI-JP 6 146111303 146111303 single base substitution T A downstream_gene_variant LIRI-JP 6 146111869 146111869 single base substitution G A downstream_gene_variant LIRI-JP 6 146111967 146111967 single base substitution G C downstream_gene_variant LIRI-JP 6 146114147 146114147 single base substitution A G downstream_gene_variant LIRI-JP 6 146121607 146121607 single base substitution T C intron_variant LIRI-JP 6 146122267 146122267 single base substitution G A intron_variant LIRI-JP 6 146126986 146126986 single base substitution T C missense_variant T186A 556A>G LIRI-JP 6 146127040 146127040 single base substitution C T missense_variant A168T 502G>A LIRI-JP 6 146127568 146127575 deletion of <=200bp AAATGGAA - intron_variant LIRI-JP 6 146127844 146127844 single base substitution A G intron_variant LIRI-JP 6 146129805 146129805 single base substitution T C intron_variant LIRI-JP 6 146130030 146130030 single base substitution T C intron_variant LIRI-JP 6 146131515 146131515 single base substitution A C intron_variant LIRI-JP 6 146132995 146132995 insertion of <=200bp - AA intron_variant LIRI-JP 6 146134642 146134642 single base substitution C A intron_variant LIRI-JP 6 146134653 146134653 single base substitution T C intron_variant LIRI-JP 6 146134708 146134708 single base substitution C G intron_variant LIRI-JP 6 146134765 146134765 single base substitution A G intron_variant LIRI-JP 6 146139657 146139657 single base substitution G A upstream_gene_variant LUSC-KR 6 146116328 146116328 single base substitution A T 3_prime_UTR_variant LUSC-KR 6 146117941 146117941 single base substitution C A 3_prime_UTR_variant LUSC-KR 6 146118477 146118477 single base substitution C G 3_prime_UTR_variant LUSC-KR 6 146120887 146120887 single base substitution G C 3_prime_UTR_variant LUSC-KR 6 146125466 146125466 single base substitution T G intron_variant LUSC-US 6 146125854 146125854 single base substitution G A missense_variant T563I 1688C>T LUSC-US 6 146126164 146126164 single base substitution T C missense_variant T460A 1378A>G LUSC-US 6 146126628 146126628 single base substitution C T missense_variant G305D 914G>A LUSC-US 6 146127417 146127417 single base substitution T A missense_variant H42L 125A>T MALY-DE 6 146115898 146115898 single base substitution C T 3_prime_UTR_variant MALY-DE 6 146122526 146122527 deletion of <=200bp TG - intron_variant MALY-DE 6 146134059 146134059 single base substitution T A intron_variant MALY-DE 6 146136333 146136333 single base substitution G A upstream_gene_variant MELA-AU 6 146110591 146110591 single base substitution T A downstream_gene_variant MELA-AU 6 146110863 146110863 single base substitution G A downstream_gene_variant MELA-AU 6 146111111 146111111 single base substitution G A downstream_gene_variant MELA-AU 6 146111305 146111305 single base substitution A C downstream_gene_variant MELA-AU 6 146111512 146111512 single base substitution G A downstream_gene_variant MELA-AU 6 146111518 146111518 single base substitution G T downstream_gene_variant MELA-AU 6 146112119 146112119 single base substitution T C downstream_gene_variant MELA-AU 6 146112528 146112528 single base substitution A G downstream_gene_variant MELA-AU 6 146113045 146113045 single base substitution G A downstream_gene_variant MELA-AU 6 146113509 146113509 single base substitution G T downstream_gene_variant MELA-AU 6 146113750 146113750 single base substitution G A downstream_gene_variant MELA-AU 6 146115684 146115684 single base substitution G A 3_prime_UTR_variant MELA-AU 6 146115910 146115910 single base substitution G A 3_prime_UTR_variant MELA-AU 6 146115916 146115916 single base substitution A C 3_prime_UTR_variant MELA-AU 6 146116081 146116081 single base substitution A C 3_prime_UTR_variant MELA-AU 6 146116659 146116659 single base substitution G A 3_prime_UTR_variant MELA-AU 6 146116671 146116671 single base substitution C T 3_prime_UTR_variant MELA-AU 6 146118053 146118053 single base substitution G A 3_prime_UTR_variant MELA-AU 6 146118470 146118470 single base substitution A G 3_prime_UTR_variant MELA-AU 6 146118762 146118762 single base substitution G A 3_prime_UTR_variant MELA-AU 6 146120461 146120461 single base substitution T G 3_prime_UTR_variant MELA-AU 6 146121322 146121322 single base substitution G A missense_variant P720S 2158C>T MELA-AU 6 146122469 146122469 single base substitution G A intron_variant MELA-AU 6 146122521 146122521 single base substitution G A intron_variant MELA-AU 6 146123587 146123587 single base substitution G A intron_variant MELA-AU 6 146123688 146123688 single base substitution A G intron_variant MELA-AU 6 146125456 146125456 single base substitution A G intron_variant MELA-AU 6 146125646 146125646 single base substitution G A synonymous_variant S632S 1896C>T MELA-AU 6 146125942 146125942 single base substitution A T missense_variant S534T 1600T>A MELA-AU 6 146126185 146126185 single base substitution G A missense_variant H453Y 1357C>T MELA-AU 6 146126293 146126293 single base substitution G A missense_variant P417S 1249C>T MELA-AU 6 146129990 146129990 single base substitution C T intron_variant MELA-AU 6 146131422 146131422 single base substitution G A intron_variant MELA-AU 6 146131908 146131908 single base substitution G A intron_variant MELA-AU 6 146132535 146132535 single base substitution G A intron_variant MELA-AU 6 146132754 146132754 single base substitution G A intron_variant MELA-AU 6 146133631 146133631 single base substitution C A intron_variant MELA-AU 6 146134831 146134831 single base substitution T G intron_variant MELA-AU 6 146136391 146136403 deletion of <=200bp AGTCCCGTGACTT - upstream_gene_variant MELA-AU 6 146136537 146136537 single base substitution C T upstream_gene_variant MELA-AU 6 146137612 146137612 single base substitution T C upstream_gene_variant MELA-AU 6 146138181 146138181 single base substitution T A upstream_gene_variant ORCA-IN 6 146126393 146126393 single base substitution G A synonymous_variant F383F 1149C>T OV-AU 6 146119951 146119951 single base substitution T C 3_prime_UTR_variant OV-AU 6 146136311 146136311 single base substitution T A upstream_gene_variant OV-US 6 146127275 146127275 single base substitution G A synonymous_variant C89C 267C>T PACA-AU 6 146113174 146113174 single base substitution C T downstream_gene_variant PACA-AU 6 146114623 146114623 single base substitution A G downstream_gene_variant PACA-AU 6 146125146 146125146 single base substitution T A intron_variant PACA-AU 6 146129807 146129807 single base substitution G A intron_variant PACA-AU 6 146130771 146130771 single base substitution C T intron_variant PACA-AU 6 146130859 146130859 single base substitution C T intron_variant PACA-AU 6 146136070 146136070 single base substitution G T upstream_gene_variant PACA-AU 6 146138902 146138902 single base substitution A G upstream_gene_variant PACA-CA 6 146113743 146113743 single base substitution G T downstream_gene_variant PACA-CA 6 146115487 146115487 single base substitution G A 3_prime_UTR_variant PACA-CA 6 146124494 146124494 single base substitution A T intron_variant PACA-CA 6 146124547 146124547 single base substitution A T intron_variant PACA-CA 6 146128502 146128502 single base substitution C A intron_variant PACA-CA 6 146132682 146132702 deletion of <=200bp ACCCTGCAGATCAATTACTGG - intron_variant PACA-CA 6 146133186 146133186 single base substitution C A intron_variant PACA-CA 6 146136246 146136246 single base substitution T A upstream_gene_variant PACA-CA 6 146136655 146136655 single base substitution C T upstream_gene_variant PAEN-IT 6 146138465 146138465 single base substitution C G upstream_gene_variant PBCA-DE 6 146114748 146114748 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 6 146118416 146118416 single base substitution T C 3_prime_UTR_variant PBCA-DE 6 146118906 146118906 single base substitution C T 3_prime_UTR_variant PRAD-CA 6 146118983 146118983 single base substitution T A 3_prime_UTR_variant PRAD-CA 6 146119162 146119162 single base substitution A T 3_prime_UTR_variant PRAD-UK 6 146113984 146113984 single base substitution C G downstream_gene_variant PRAD-UK 6 146114455 146114455 deletion of <=200bp C - downstream_gene_variant PRAD-UK 6 146115050 146115050 single base substitution T C 3_prime_UTR_variant PRAD-UK 6 146132782 146132782 single base substitution G C intron_variant PRAD-UK 6 146134719 146134719 single base substitution C T intron_variant PRAD-UK 6 146136821 146136821 single base substitution G A upstream_gene_variant PRAD-UK 6 146137745 146137745 single base substitution C A upstream_gene_variant PRAD-US 6 146125919 146125919 single base substitution A C synonymous_variant G541G 1623T>G RECA-EU 6 146126270 146126270 single base substitution A C missense_variant D424E 1272T>G RECA-EU 6 146130405 146130405 single base substitution G T intron_variant RECA-EU 6 146137193 146137193 single base substitution C A upstream_gene_variant RECA-EU 6 146139124 146139124 single base substitution A G upstream_gene_variant SKCA-BR 6 146109799 146109799 single base substitution G A downstream_gene_variant SKCA-BR 6 146111266 146111266 single base substitution A C downstream_gene_variant SKCA-BR 6 146111828 146111828 single base substitution G A downstream_gene_variant SKCA-BR 6 146112260 146112260 single base substitution A G downstream_gene_variant SKCA-BR 6 146113348 146113348 single base substitution G A downstream_gene_variant SKCA-BR 6 146115929 146115929 single base substitution T G 3_prime_UTR_variant SKCA-BR 6 146118800 146118800 insertion of <=200bp - GA 3_prime_UTR_variant SKCA-BR 6 146125849 146125849 single base substitution A G missense_variant S565P 1693T>C SKCA-BR 6 146127573 146127573 single base substitution G A intron_variant SKCA-BR 6 146128588 146128588 single base substitution A T intron_variant SKCA-BR 6 146128612 146128612 single base substitution A T intron_variant SKCA-BR 6 146135684 146135684 single base substitution T C intron_variant SKCA-BR 6 146136415 146136415 single base substitution G C upstream_gene_variant SKCM-US 6 146121323 146121323 single base substitution G T synonymous_variant I719I 2157C>A SKCM-US 6 146126358 146126358 single base substitution G A missense_variant S395L 1184C>T SKCM-US 6 146126700 146126700 single base substitution G T missense_variant S281Y 842C>A SKCM-US 6 146127122 146127122 single base substitution G A synonymous_variant T140T 420C>T SKCM-US 6 146127185 146127185 single base substitution T C synonymous_variant Q119Q 357A>G SKCM-US 6 146127223 146127223 single base substitution A C missense_variant Y107D 319T>G SKCM-US 6 146127255 146127255 single base substitution C T missense_variant R96Q 287G>A SKCM-US 6 146127256 146127256 single base substitution G A stop_gained R96* 286C>T SKCM-US 6 146127418 146127418 single base substitution G A missense_variant H42Y 124C>T STAD-US 6 146121270 146121270 single base substitution A G missense_variant L737P 2210T>C STAD-US 6 146121412 146121412 single base substitution T C missense_variant N690D 2068A>G STAD-US 6 146125620 146125620 single base substitution T A missense_variant K641M 1922A>T STAD-US 6 146125877 146125877 single base substitution G A synonymous_variant C555C 1665C>T STAD-US 6 146126057 146126057 single base substitution C T synonymous_variant P495P 1485G>A STAD-US 6 146126159 146126159 single base substitution A G synonymous_variant F461F 1383T>C STAD-US 6 146126254 146126254 single base substitution A G synonymous_variant L430L 1288T>C STAD-US 6 146126324 146126324 single base substitution T G synonymous_variant V406V 1218A>C STAD-US 6 146126435 146126435 deletion of <=200bp T - frameshift_variant K369 STAD-US 6 146126844 146126844 single base substitution A G missense_variant L233S 698T>C STAD-US 6 146127127 146127127 single base substitution C T missense_variant A139T 415G>A STAD-US 6 146127271 146127271 single base substitution T C missense_variant T91A 271A>G STAD-US 6 146127309 146127309 single base substitution T C missense_variant E78G 233A>G STAD-US 6 146127423 146127423 single base substitution A G missense_variant V40A 119T>C THCA-SA 6 146120584 146120584 single base substitution T C 3_prime_UTR_variant THCA-SA 6 146120846 146120846 single base substitution T C 3_prime_UTR_variant THCA-SA 6 146120858 146120858 single base substitution C G 3_prime_UTR_variant THCA-SA 6 146127029 146127029 single base substitution T C synonymous_variant L171L 513A>G THCA-SA 6 146135919 146135919 single base substitution A G upstream_gene_variant UCEC-US 6 146121337 146121337 single base substitution G A missense_variant R715W 2143C>T UCEC-US 6 146125924 146125924 single base substitution G T missense_variant H540N 1618C>A UCEC-US 6 146125969 146125969 single base substitution G A stop_gained Q525* 1573C>T UCEC-US 6 146126018 146126018 single base substitution G A synonymous_variant V508V 1524C>T UCEC-US 6 146126124 146126124 single base substitution A G missense_variant M473T 1418T>C UCEC-US 6 146126379 146126379 single base substitution G A missense_variant S388L 1163C>T UCEC-US 6 146127038 146127038 single base substitution A C synonymous_variant A168A 504T>G UCEC-US 6 146127048 146127048 single base substitution A C missense_variant I165R 494T>G UCEC-US 6 146127328 146127328 single base substitution C T missense_variant A72T 214G>A UCEC-US 6 146127493 146127493 single base substitution G A missense_variant R17W 49C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0TA-01 COSM1074169 c.1163C>T p.S388L Substitution - Missense 6:145805243-145805243 - TCGA-BR-8680-01 COSM3858829 c.1218A>C p.V406V Substitution - coding silent 6:145805188-145805188 - CSCC-31-T COSM4495312 c.450C>T p.S150S Substitution - coding silent 6:145805956-145805956 - TCGA-CJ-5683-01 COSM483494 c.700A>G p.K234E Substitution - Missense 6:145805706-145805706 - TCGA-HE-A5NL-01 COSM740724 c.914G>A p.G305D Substitution - Missense 6:145805492-145805492 - LIM2405 COSM4643050 c.368C>T p.A123V Substitution - Missense 6:145806038-145806038 - CSCC-16-T COSM1074174 c.49C>T p.R17W Substitution - Missense 6:145806357-145806357 - TCGA-BR-4201-01 COSM3858834 c.119T>C p.V40A Substitution - Missense 6:145806287-145806287 - TCGA-AA-3966-01 COSM272685 c.1222A>G p.T408A Substitution - Missense 6:145805184-145805184 - Pat_45_B COSM5869468 c.1481G>A p.S494N Substitution - Missense 6:145804925-145804925 - RK308_C01 COSM3744967 c.502G>A p.A168T Substitution - Missense 6:145805904-145805904 - TCGA-24-1427-01 COSM81178 c.267C>T p.C89C Substitution - coding silent 6:145806139-145806139 - ESCC_BICR_004T COSM5431487 c.250C>G p.P84A Substitution - Missense 6:145806156-145806156 - U373 COSM1672812 c.146A>G p.H49R Substitution - Missense 6:145806260-145806260 - TCGA-AX-A0J0-01 COSM1074170 c.504T>G p.A168A Substitution - coding silent 6:145805902-145805902 - RK308_C01 COSM3744966 c.556A>G p.T186A Substitution - Missense 6:145805850-145805850 - TCGA-BS-A0UF-01 COSM1074164 c.2143C>T p.R715W Substitution - Missense 6:145800201-145800201 - C0057T COSM4155992 c.1272T>G p.D424E Substitution - Missense 6:145805134-145805134 - 2293776 COSM4607933 c.764C>A p.T255K Substitution - Missense 6:145805642-145805642 - 227_T COSM3948113 c.19C>T p.H7Y Substitution - Missense 6:145806387-145806387 - SNUH_G10_S1 COSM3736404 c.1749T>A p.H583Q Substitution - Missense 6:145804657-145804657 - TCGA-DK-A3IS-01 COSM1311635 c.439G>A p.D147N Substitution - Missense 6:145805967-145805967 - CSCC-56-T COSM4528546 c.1545G>A p.Q515Q Substitution - coding silent 6:145804861-145804861 - TCGA-HU-A4H8-01 COSM3858831 c.415G>A p.A139T Substitution - Missense 6:145805991-145805991 - T351 COSM3017496 c.995C>T p.A332V Substitution - Missense 6:145805411-145805411 - TCGA-AA-3979-01 COSM297675 c.897G>C p.Q299H Substitution - Missense 6:145805509-145805509 - LUAD-E00918 COSM365362 c.1611G>A p.K537K Substitution - coding silent 6:145804795-145804795 - SNUH_G26_S1 COSM3736404 c.1749T>A p.H583Q Substitution - Missense 6:145804657-145804657 - BD114T COSM5503174 c.857G>A p.G286D Substitution - Missense 6:145805549-145805549 - LAU618 COSM232326 c.1462C>T p.P488S Substitution - Missense 6:145804944-145804944 - BCM375T COSM4799234 c.448T>C p.S150P Substitution - Missense 6:145805958-145805958 - STC291 COSM5061465 c.2205T>C p.R735R Substitution - coding silent 6:145800139-145800139 - TCGA-BF-A1PZ-01 COSM4399351 c.287G>A p.R96Q Substitution - Missense 6:145806119-145806119 - XHDG22 COSM4768995 c.1125G>T p.V375V Substitution - coding silent 6:145805281-145805281 - CHOL12 COSM1743341 c.1208A>G p.D403G Substitution - Missense 6:145805198-145805198 - B47-Tumor COSM4006143 c.1840A>C p.S614R Substitution - Missense 6:145804566-145804566 - BK0043 COSM4187448 c.2069A>G p.N690S Substitution - Missense 6:145800275-145800275 - TCGA-AO-A03V-01 COSM450630 c.184A>C p.N62H Substitution - Missense 6:145806222-145806222 - TCGA-CA-6718-01 COSM1440958 c.1611G>T p.K537N Substitution - Missense 6:145804795-145804795 - TC32 COSM4586282 c.936A>G p.L312L Substitution - coding silent 6:145805470-145805470 - TCGA-D3-A5GO-06 COSM3621284 c.842C>A p.S281Y Substitution - Missense 6:145805564-145805564 - T3024 COSM4683956 c.311G>A p.R104Q Substitution - Missense 6:145806095-145806095 - B59-3-Tumor COSM1754569 c.1090G>A p.E364K Substitution - Missense 6:145805316-145805316 - TCGA-GN-A266-06 COSM3621288 c.124C>T p.H42Y Substitution - Missense 6:145806282-145806282 - TCGA-AP-A051-01 COSM1074173 c.214G>A p.A72T Substitution - Missense 6:145806192-145806192 - TCGA-D1-A103-01 COSM1074174 c.49C>T p.R17W Substitution - Missense 6:145806357-145806357 - TCGA-EJ-A65B-01 COSM4393544 c.1623T>G p.G541G Substitution - coding silent 6:145804783-145804783 - TCGA-18-3417-01 COSM740725 c.1378A>G p.T460A Substitution - Missense 6:145805028-145805028 - SNUH_G26_S1 COSM3736405 c.1123G>A p.V375M Substitution - Missense 6:145805283-145805283 - HCA7 COSM4631063 c.732A>G p.I244M Substitution - Missense 6:145805674-145805674 - LUAD-NYU408 COSM374555 c.1659G>T p.Q553H Substitution - Missense 6:145804747-145804747 - TCGA-C5-A2LX-01 COSM4827526 c.1860C>A p.V620V Substitution - coding silent 6:145804546-145804546 - OSCC-GB_00440111 COSM3715325 c.1149C>T p.F383F Substitution - coding silent 6:145805257-145805257 - CHEWS020 COSM4586281 c.2182C>T p.R728* Substitution - Nonsense 6:145800162-145800162 - TCGA-A8-A0A6-01 COSM3829225 c.1089T>G p.G363G Substitution - coding silent 6:145805317-145805317 - TCGA-D3-A2JF-06 COSM3621287 c.319T>G p.Y107D Substitution - Missense 6:145806087-145806087 - T407 COSM4683955 c.1417A>T p.M473L Substitution - Missense 6:145804989-145804989 - TCGA-DK-A2I4-01 COSM3777165 c.382G>C p.D128H Substitution - Missense 6:145806024-145806024 - TCGA-CA-6717-01 COSM1440959 c.624C>T p.G208G Substitution - coding silent 6:145805782-145805782 - PT32 COSM5907409 c.778C>T p.Q260* Substitution - Nonsense 6:145805628-145805628 - TCGA-A8-A0A6-01 COSM3829226 c.998T>G p.V333G Substitution - Missense 6:145805408-145805408 - 07-058 COSM3736404 c.1749T>A p.H583Q Substitution - Missense 6:145804657-145804657 - Pat_45_B COSM5869469 c.1270G>A p.D424N Substitution - Missense 6:145805136-145805136 - TCGA-B5-A0JY-01 COSM1074171 c.494T>G p.I165R Substitution - Missense 6:145805912-145805912 - TCGA-A8-A0A6-01 COSM3829223 c.1663T>G p.C555G Substitution - Missense 6:145804743-145804743 - TCGA-EE-A2GR-06 COSM3621282 c.2157C>A p.I719I Substitution - coding silent 6:145800187-145800187 - tumor_4116738 COSM1161592 c.2022G>C p.Q674H Substitution - Missense 6:145804384-145804384 - CLL105 COSM1292215 c.1934A>C p.D645A Substitution - Missense 6:145804472-145804472 - TCGA-F4-6809-01 COSM1440960 c.482G>A p.S161N Substitution - Missense 6:145805924-145805924 - TCGA-HT-A5R5-01 COSM3928137 c.1194T>C p.S398S Substitution - coding silent 6:145805212-145805212 - TCGA-A2-A0ET-01 COSM450628 c.1484C>T p.P495L Substitution - Missense 6:145804922-145804922 - CSCC-40-T COSM4450977 c.1005A>G p.A335A Substitution - coding silent 6:145805401-145805401 - TCGA-CG-5721-01 COSM3858833 c.233A>G p.E78G Substitution - Missense 6:145806173-145806173 - TCGA-AP-A054-01 COSM1074166 c.1573C>T p.Q525* Substitution - Nonsense 6:145804833-145804833 - PR-09-5700 COSM244469 c.1360A>G p.I454V Substitution - Missense 6:145805046-145805046 - QC2-26-T2 COSM3736404 c.1749T>A p.H583Q Substitution - Missense 6:145804657-145804657 - PTC-14C COSM4160265 c.2057T>G p.F686C Substitution - Missense 6:145800287-145800287 - TCGA-FS-A4FD-06 COSM3621285 c.420C>T p.T140T Substitution - coding silent 6:145805986-145805986 - BD165T COSM5506217 c.343G>A p.D115N Substitution - Missense 6:145806063-145806063 - TCGA-CD-A4MG-01 COSM3858825 c.1665C>T p.C555C Substitution - coding silent 6:145804741-145804741 - TCGA-BR-6565-01 COSM3858827 c.1383T>C p.F461F Substitution - coding silent 6:145805023-145805023 - KYSE-180 COSM3017477 c.1752G>A p.L584L Substitution - coding silent 6:145804654-145804654 - TCGA-BS-A0UF-01 COSM1074165 c.1618C>A p.H540N Substitution - Missense 6:145804788-145804788 - TCGA-BR-8078-01 COSM3858823 c.2068A>G p.N690D Substitution - Missense 6:145800276-145800276 - 1517_CLM COSM5756772 c.1679A>G p.Y560C Substitution - Missense 6:145804727-145804727 - U251 COSM1672812 c.146A>G p.H49R Substitution - Missense 6:145806260-145806260 - HN_62426 COSM123121 c.423G>A p.M141I Substitution - Missense 6:145805983-145805983 - TCGA-60-2722-01 COSM740722 c.125A>T p.H42L Substitution - Missense 6:145806281-145806281 - BN24 COSM1621007 c.2212C>T p.R738C Substitution - Missense 6:145800132-145800132 - TCGA-34-2608-01 COSM740724 c.914G>A p.G305D Substitution - Missense 6:145805492-145805492 - SNB19 COSM1672812 c.146A>G p.H49R Substitution - Missense 6:145806260-145806260 - LOVO COSM3017493 c.1107delA p.V370fs*1 Deletion - Frameshift 6:145805299-145805299 - TCGA-AD-6889-01 COSM1440962 c.74G>A p.G25E Substitution - Missense 6:145806332-145806332 - PD4200a COSM161015 c.1948C>G p.L650V Substitution - Missense 6:145804458-145804458 - TCGA-BR-6458-01 COSM3858824 c.1922A>T p.K641M Substitution - Missense 6:145804484-145804484 - TCGA-BG-A0MQ-01 COSM1074172 c.474T>C p.V158V Substitution - coding silent 6:145805932-145805932 - NCI-H720 COSM3017486 c.1333G>C p.D445H Substitution - Missense 6:145805073-145805073 - 07-058 COSM3736405 c.1123G>A p.V375M Substitution - Missense 6:145805283-145805283 - 1517_PT COSM5756772 c.1679A>G p.Y560C Substitution - Missense 6:145804727-145804727 - BCM375T COSM4799234 c.448T>C p.S150P Substitution - Missense 6:145805958-145805958 - TCGA-AC-A23H-01 COSM3829224 c.1243G>A p.E415K Substitution - Missense 6:145805163-145805163 - CR007 COSM4994571 c.1744C>T p.R582C Substitution - Missense 6:145804662-145804662 - TCGA-E2-A10C-01 COSM450629 c.892G>A p.D298N Substitution - Missense 6:145805514-145805514 - CRC-02T COSM5455450 c.94G>T p.G32C Substitution - Missense 6:145806312-145806312 - TCGA-AB-2818-03 COSM1319147 c.1586G>A p.R529K Substitution - Missense 6:145804820-145804820 - TCGA-BR-4362-01 COSM3858832 c.271A>G p.T91A Substitution - Missense 6:145806135-145806135 - TCGA-B5-A0JY-01 COSM1074167 c.1524C>T p.V508V Substitution - coding silent 6:145804882-145804882 - TCGA-18-3409-01 COSM740726 c.1688C>T p.T563I Substitution - Missense 6:145804718-145804718 - TCGA-D1-A16X-01 COSM1074168 c.1418T>C p.M473T Substitution - Missense 6:145804988-145804988 - TCGA-HU-A4GQ-01 COSM3858822 c.2210T>C p.L737P Substitution - Missense 6:145800134-145800134 - B59-3 COSM1754569 c.1090G>A p.E364K Substitution - Missense 6:145805316-145805316 - 16 COSM3735741 c.217C>T p.R73* Substitution - Nonsense 6:145806189-145806189 - TCGA-13-0919-01 COSM77711 c.1961G>A p.R654H Substitution - Missense 6:145804445-145804445 - TCGA-AP-A05N-01 COSM1074163 c.2148G>A p.E716E Substitution - coding silent 6:145800196-145800196 - TCGA-CD-8536-01 COSM3858830 c.698T>C p.L233S Substitution - Missense 6:145805708-145805708 - Pat_08_B COSM5869470 c.581C>T p.A194V Substitution - Missense 6:145805825-145805825 - MEL-JWCI-WGS-13 COSM1167538 c.1577delT p.L526fs*32 Deletion - Frameshift 6:145804829-145804829 - CSCC-31-T COSM4525342 c.1324G>A p.G442S Substitution - Missense 6:145805082-145805082 - TCGA-EE-A29E-06 COSM3621283 c.1184C>T p.S395L Substitution - Missense 6:145805222-145805222 - 3N08-VS-3T08 COSM4979099 c.139G>A p.D47N Substitution - Missense 6:145806267-145806267 - TCGA-BR-6452-01 COSM3858828 c.1288T>C p.L430L Substitution - coding silent 6:145805118-145805118 - TCGA-RP-A693-06 COSM4895256 c.286C>T p.R96* Substitution - Nonsense 6:145806120-145806120 - BN24T COSM1621007 c.2212C>T p.R738C Substitution - Missense 6:145800132-145800132 - TCGA-AU-6004-01 COSM1440956 c.2068A>C p.N690H Substitution - Missense 6:145800276-145800276 - TCGA-CG-5728-01 COSM3858826 c.1485G>A p.P495P Substitution - coding silent 6:145804921-145804921 - LP6005334-DNA_E02 COSM5032230 c.1910C>A p.S637* Substitution - Nonsense 6:145804496-145804496 - TCGA-FS-A1Z3-06 COSM3621286 c.357A>G p.Q119Q Substitution - coding silent 6:145806049-145806049 - 44T COSM3715325 c.1149C>T p.F383F Substitution - coding silent 6:145805257-145805257 - 587332 COSM1206824 c.1282G>A p.A428T Substitution - Missense 6:145805124-145805124 - TCGA-CC-A7IJ-01 COSM4924612 c.529G>C p.E177Q Substitution - Missense 6:145805877-145805877 - T2284 COSM4683954 c.1958C>T p.S653F Substitution - Missense 6:145804448-145804448 - Co74 COSM33092 c.23C>G p.S8C Substitution - Missense 6:145806383-145806383 - 1 COSM3734962 c.1544A>T p.Q515L Substitution - Missense 6:145804862-145804862 - SC_9008 COSM5559961 c.2161T>G p.L721V Substitution - Missense 6:145800183-145800183 - LUAD-CHTN-MAD06-00668 COSM360249 c.765A>G p.T255T Substitution - coding silent 6:145805641-145805641 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.421095 6q24 609101

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Y107D c.319T>G 6 146127223 CM A C Synonymous p.G541G c.1623T>G 6 146125919 PRAD A - Frameshift p.L526Yfs*32 c.1577delT 6 146125965 CM A G Missense p.V40A c.119T>C 6 146127423 STAD A G Synonymous p.F461F c.1383T>C 6 146126159 STAD - A Nonsense p.D279*fs*1 c.834dupT 6 146126708 HNSC A T Synonymous p.V413V c.1239T>A 6 146126303 ALL C A Missense p.D424Y c.1270G>T 6 146126272 STAD C A Missense p.M448I c.1344G>T 6 146126198 STAD C A Synonymous p.A332A c.996G>T 6 146126546 LUAD C G Missense p.D128H c.382G>C 6 146127160 BLCA C G Missense p.Q299H c.897G>C 6 146126645 COREAD C G Missense p.Q674H c.2022G>C 6 146125520 DLBCL C G Missense p.S471T c.1412G>C 6 146126130 LUAD C G Missense p.S8C c.23C>G 6 146127519 COREAD C T Missense p.D147N c.439G>A 6 146127103 BLCA C T Missense p.D371N c.1111G>A 6 146126431 HNSC C T Missense p.G305D c.914G>A 6 146126628 LUSC C T Missense p.M141I c.423G>A 6 146127119 HNSC C T Missense p.R529K c.1586G>A 6 146125956 AML C T Missense p.R654H c.1961G>A 6 146125581 OV C T Missense p.R96Q c.287G>A 6 146127255 CM C T Synonymous p.P495P c.1485G>A 6 146126057 STAD G A Missense p.A332V c.995C>T 6 146126547 GBM G A Missense p.L126F c.376C>T 6 146127166 CM G A Missense p.P495L c.1484C>T 6 146126058 BRCA G A Missense p.R654C c.1960C>T 6 146125582 COREAD G A Missense p.S325L c.974C>T 6 146126568 LUAD G A Missense p.S388L c.1163C>T 6 146126379 UCEC G A Nonsense p.Q525* c.1573C>T 6 146125969 UCEC G A Synonymous p.C89C c.267C>T 6 146127275 OV G A Synonymous p.L5L c.13C>T 6 146127529 HNSC G C Missense p.L650V c.1948C>G 6 146125594 BRCA G T Synonymous p.I719I c.2157C>A 6 146121323 CM T A Missense p.H42L c.125A>T 6 146127417 LUSC T A Missense p.K641M c.1922A>T 6 146125620 STAD T C 3-UTRSNV . c.2235+57A>G 6 146121188 ESCA T C Missense p.K234E c.700A>G 6 146126842 RCCC T C Missense p.T460A c.1378A>G 6 146126164 LUSC T C Synonymous p.Q119Q c.357A>G 6 146127185 CM T - Frameshift p.V370*fs*1 c.1107delA 6 146126435 STAD T G Missense p.D645A c.1934A>C 6 146125608 CLL T G Missense p.N62H c.184A>C 6 146127358 BRCA