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 158595954 158595954 + Missense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr5:158595954C>T c.1048G>A c.(1048-1050)Gta>Ata p.V350I BLCA 5 158586021 158586021 + Missense_Mutation SNP G G A TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr5:158586021G>A c.1649C>T c.(1648-1650)aCg>aTg p.T550M BLCA 5 158588322 158588322 + Silent SNP C C T TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 g.chr5:158588322C>T c.1578G>A c.(1576-1578)acG>acA p.T526T BLCA 5 158590012 158590012 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:158590012C>A c.1197G>T c.(1195-1197)atG>atT p.M399I BLCA 5 158590024 158590024 + Nonsense_Mutation SNP A A T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr5:158590024A>T c.1185T>A c.(1183-1185)taT>taA p.Y395* BLCA 5 158603709 158603709 + Silent SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr5:158603709G>C c.552C>G c.(550-552)ctC>ctG p.L184L BLCA 5 158630533 158630533 + Silent SNP G G A TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr5:158630533G>A c.93C>T c.(91-93)gtC>gtT p.V31V BLCA 5 158630573 158630573 + Missense_Mutation SNP G G A TCGA-XF-AAME-01A-12D-A42E-08 TCGA-XF-AAME-10A-01D-A42H-08 g.chr5:158630573G>A c.53C>T c.(52-54)cCa>cTa p.P18L BLCA 5 158630581 158630581 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr5:158630581C>T c.45G>A c.(43-45)ctG>ctA p.L15L BRCA 5 158601064 158601064 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:158601064G>A c.724C>T c.(724-726)Cag>Tag p.Q242* BRCA 5 158601156 158601156 + Missense_Mutation SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:158601156A>G c.632T>C c.(631-633)gTa>gCa p.V211A BRCA 5 158630600 158630600 + Missense_Mutation SNP G G A TCGA-A2-A3Y0-01A-11D-A23C-09 TCGA-A2-A3Y0-10A-01D-A23C-09 g.chr5:158630600G>A c.26C>T c.(25-27)gCa>gTa p.A9V CESC 5 158585861 158585861 + Silent SNP G G A TCGA-IR-A3LC-01A-11D-A20U-09 TCGA-IR-A3LC-10A-01D-A20U-09 g.chr5:158585861G>A c.1809C>T c.(1807-1809)gtC>gtT p.V603V CESC 5 158596779 158596779 + Missense_Mutation SNP G G C TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr5:158596779G>C c.846C>G c.(844-846)ttC>ttG p.F282L COAD 5 158588274 158588274 + Splice_Site SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr5:158588274C>T c.1626G>A c.(1624-1626)caG>caA p.Q542Q COAD 5 158588283 158588283 + Missense_Mutation SNP G G C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:158588283G>C c.1617C>G c.(1615-1617)atC>atG p.I539M COAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COAD 5 158588285 158588285 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:158588285T>C c.1615A>G c.(1615-1617)Atc>Gtc p.I539V COAD 5 158588350 158588350 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:158588350T>G c.1550A>C c.(1549-1551)aAt>aCt p.N517T COAD 5 158588366 158588366 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158588366G>A c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C COAD 5 158588427 158588427 + Silent SNP G G A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr5:158588427G>A c.1473C>T c.(1471-1473)ttC>ttT p.F491F COAD 5 158588524 158588524 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:158588524C>T c.1376G>A c.(1375-1377)cGc>cAc p.R459H COAD 5 158590068 158590068 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:158590068G>A c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C COAD 5 158590070 158590070 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158590070A>G c.1139T>C c.(1138-1140)tTc>tCc p.F380S COAD 5 158595987 158595987 + Missense_Mutation SNP C C G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:158595987C>G c.1015G>C c.(1015-1017)Gca>Cca p.A339P COAD 5 158601112 158601112 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158601112C>T c.676G>A c.(676-678)Gta>Ata p.V226I COAD 5 158603693 158603693 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:158603693T>C c.568A>G c.(568-570)Aat>Gat p.N190D COAD 5 158603757 158603757 + Silent SNP A A G TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:158603757A>G c.504T>C c.(502-504)atT>atC p.I168I COAD 5 158603758 158603758 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr5:158603758A>G c.503T>C c.(502-504)aTt>aCt p.I168T COAD 5 158621754 158621754 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:158621754A>G c.263T>C c.(262-264)cTg>cCg p.L88P COAD 5 158621762 158621763 + Frame_Shift_Ins INS - - A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:158621762_158621763insA c.254_255insT c.(253-255)ttgfs p.L85fs COAD 5 158630640 158630640 + 5'UTR SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr5:158630640T>C COAD 5 158634800 158634800 + Intron SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:158634800C>T COADREAD 5 158585758 158585758 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:158585758C>T c.1912G>A c.(1912-1914)Gat>Aat p.D638N COADREAD 5 158585904 158585904 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:158585904G>A c.1766C>T c.(1765-1767)aCt>aTt p.T589I COADREAD 5 158588274 158588274 + Splice_Site SNP C C T TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chr5:158588274C>T c.1626G>A c.(1624-1626)caG>caA p.Q542Q COADREAD 5 158588283 158588283 + Missense_Mutation SNP G G C TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr5:158588283G>C c.1617C>G c.(1615-1617)atC>atG p.I539M COADREAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COADREAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COADREAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COADREAD 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-DM-A1D9-01A-11D-A152-10 TCGA-DM-A1D9-10A-01D-A152-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T COADREAD 5 158588285 158588285 + Missense_Mutation SNP T T C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:158588285T>C c.1615A>G c.(1615-1617)Atc>Gtc p.I539V COADREAD 5 158588350 158588350 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:158588350T>G c.1550A>C c.(1549-1551)aAt>aCt p.N517T COADREAD 5 158588366 158588366 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158588366G>A c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C COADREAD 5 158588427 158588427 + Silent SNP G G A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr5:158588427G>A c.1473C>T c.(1471-1473)ttC>ttT p.F491F COADREAD 5 158588524 158588524 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:158588524C>T c.1376G>A c.(1375-1377)cGc>cAc p.R459H COADREAD 5 158590068 158590068 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr5:158590068G>A c.1141C>T c.(1141-1143)Cgt>Tgt p.R381C COADREAD 5 158590070 158590070 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158590070A>G c.1139T>C c.(1138-1140)tTc>tCc p.F380S COADREAD 5 158595954 158595954 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr5:158595954C>T c.1048G>A c.(1048-1050)Gta>Ata p.V350I COADREAD 5 158595987 158595987 + Missense_Mutation SNP C C G TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr5:158595987C>G c.1015G>C c.(1015-1017)Gca>Cca p.A339P COADREAD 5 158601112 158601112 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr5:158601112C>T c.676G>A c.(676-678)Gta>Ata p.V226I COADREAD 5 158603693 158603693 + Missense_Mutation SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr5:158603693T>C c.568A>G c.(568-570)Aat>Gat p.N190D COADREAD 5 158603757 158603757 + Silent SNP A A G TCGA-F4-6807-01A-11D-1835-10 TCGA-F4-6807-10A-01D-1835-10 g.chr5:158603757A>G c.504T>C c.(502-504)atT>atC p.I168I COADREAD 5 158603758 158603758 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr5:158603758A>G c.503T>C c.(502-504)aTt>aCt p.I168T COADREAD 5 158621754 158621754 + Missense_Mutation SNP A A G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:158621754A>G c.263T>C c.(262-264)cTg>cCg p.L88P COADREAD 5 158621762 158621763 + Frame_Shift_Ins INS - - A TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr5:158621762_158621763insA c.254_255insT c.(253-255)ttgfs p.L85fs COADREAD 5 158630640 158630640 + 5'UTR SNP T T C TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr5:158630640T>C COADREAD 5 158634800 158634800 + Intron SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr5:158634800C>T DLBC 5 158596032 158596032 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr5:158596032G>A c.970C>T c.(970-972)Ctg>Ttg p.L324L ESCA 5 158595982 158595982 + Missense_Mutation SNP G G T TCGA-VR-A8EY-01A-11D-A36J-09 TCGA-VR-A8EY-10A-01D-A36M-09 g.chr5:158595982G>T c.1020C>A c.(1018-1020)ttC>ttA p.F340L ESCA 5 158603819 158603819 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr5:158603819G>T c.442C>A c.(442-444)Ctg>Atg p.L148M ESCA 5 158630641 158630642 + 5'UTR INS - - T TCGA-LN-A4A2-01A-31D-A27G-09 TCGA-LN-A4A2-10A-01D-A27G-09 g.chr5:158630641_158630642insT ESCA 5 158634791 158634791 + Intron SNP C C T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr5:158634791C>T GBMLGG 5 158585820 158585820 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158585820G>T c.1850C>A c.(1849-1851)aCt>aAt p.T617N GBMLGG 5 158596065 158596066 + Splice_Site INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158596065_158596066insA c.e8-2 GBMLGG 5 158601111 158601111 + Missense_Mutation SNP A A C TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr5:158601111A>C c.677T>G c.(676-678)gTa>gGa p.V226G GBMLGG 5 158601151 158601151 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158601151C>T c.637G>A c.(637-639)Ggc>Agc p.G213S GBMLGG 5 158621725 158621725 + Splice_Site SNP T T C TCGA-HT-7470-01A-12D-2086-08 TCGA-HT-7470-10A-01D-2086-08 g.chr5:158621725T>C c.292A>G c.(292-294)Agg>Ggg p.R98G HNSC 5 158585719 158585719 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr5:158585719G>A c.1951C>T c.(1951-1953)Cac>Tac p.H651Y HNSC 5 158588301 158588301 + Missense_Mutation SNP G G T TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr5:158588301G>T c.1599C>A c.(1597-1599)caC>caA p.H533Q HNSC 5 158588497 158588497 + Missense_Mutation SNP C C G TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr5:158588497C>G c.1403G>C c.(1402-1404)tGt>tCt p.C468S HNSC 5 158603773 158603773 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:158603773A>G c.488T>C c.(487-489)gTt>gCt p.V163A HNSC 5 158630511 158630511 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr5:158630511G>A c.115C>T c.(115-117)Caa>Taa p.Q39* HNSC 5 158630622 158630622 + Missense_Mutation SNP C C A TCGA-CV-6950-01A-11D-1912-08 TCGA-CV-6950-10A-01D-1912-08 g.chr5:158630622C>A c.4G>T c.(4-6)Gct>Tct p.A2S HNSC 5 158630649 158630649 + 5'UTR SNP T T C TCGA-CQ-6220-01A-11D-1912-08 TCGA-CQ-6220-10A-01D-1912-08 g.chr5:158630649T>C KICH 5 158595995 158595995 + Missense_Mutation SNP A A G TCGA-KL-8341-01A-11D-2310-10 TCGA-KL-8341-11A-01D-2310-10 g.chr5:158595995A>G c.1007T>C c.(1006-1008)gTt>gCt p.V336A KICH 5 158630640 158630640 + 5'UTR SNP T T C TCGA-KN-8429-01A-11D-2310-10 TCGA-KN-8429-11A-01D-2311-10 g.chr5:158630640T>C KICH 5 158630640 158630640 + 5'UTR SNP T T C TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr5:158630640T>C KICH 5 158630641 158630641 + 5'UTR SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr5:158630641C>T KIPAN 5 158595995 158595995 + Missense_Mutation SNP A A G TCGA-KL-8341-01A-11D-2310-10 TCGA-KL-8341-11A-01D-2310-10 g.chr5:158595995A>G c.1007T>C c.(1006-1008)gTt>gCt p.V336A KIPAN 5 158601127 158601128 + Frame_Shift_Ins INS - - GGACATT TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr5:158601127_158601128insGGACATT c.660_661insAATGTCC c.(658-663)tccctgfs p.L221fs KIPAN 5 158603687 158603687 + Silent SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr5:158603687A>G c.574T>C c.(574-576)Ttg>Ctg p.L192L KIPAN 5 158603776 158603776 + Missense_Mutation SNP A A C TCGA-B0-5113-01A-01D-1421-08 TCGA-B0-5113-11A-01D-1421-08 g.chr5:158603776A>C c.485T>G c.(484-486)cTt>cGt p.L162R KIPAN 5 158630640 158630640 + 5'UTR SNP T T C TCGA-KN-8429-01A-11D-2310-10 TCGA-KN-8429-11A-01D-2311-10 g.chr5:158630640T>C KIPAN 5 158630640 158630640 + 5'UTR SNP T T C TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr5:158630640T>C KIPAN 5 158630641 158630641 + 5'UTR SNP C C T TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr5:158630641C>T KIRC 5 158601127 158601128 + Frame_Shift_Ins INS - - GGACATT TCGA-B0-5713-01A-11D-1669-08 TCGA-B0-5713-11A-01D-1669-08 g.chr5:158601127_158601128insGGACATT c.660_661insAATGTCC c.(658-663)tccctgfs p.L221fs KIRC 5 158603687 158603687 + Silent SNP A A G TCGA-BP-5170-01A-01D-1429-08 TCGA-BP-5170-11A-01D-1429-08 g.chr5:158603687A>G c.574T>C c.(574-576)Ttg>Ctg p.L192L KIRC 5 158603776 158603776 + Missense_Mutation SNP A A C TCGA-B0-5113-01A-01D-1421-08 TCGA-B0-5113-11A-01D-1421-08 g.chr5:158603776A>C c.485T>G c.(484-486)cTt>cGt p.L162R LGG 5 158585820 158585820 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158585820G>T c.1850C>A c.(1849-1851)aCt>aAt p.T617N LGG 5 158596065 158596066 + Splice_Site INS - - A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158596065_158596066insA c.e8-2 LGG 5 158601111 158601111 + Missense_Mutation SNP A A C TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr5:158601111A>C c.677T>G c.(676-678)gTa>gGa p.V226G LGG 5 158601151 158601151 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:158601151C>T c.637G>A c.(637-639)Ggc>Agc p.G213S LGG 5 158621725 158621725 + Splice_Site SNP T T C TCGA-HT-7470-01A-12D-2086-08 TCGA-HT-7470-10A-01D-2086-08 g.chr5:158621725T>C c.292A>G c.(292-294)Agg>Ggg p.R98G LIHC 5 158585835 158585835 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:158585835delG c.1835delC c.(1834-1836)ccafs p.P612fs LIHC 5 158586026 158586026 + Silent SNP C C A TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr5:158586026C>A c.1644G>T c.(1642-1644)gtG>gtT p.V548V LIHC 5 158588365 158588365 + Missense_Mutation SNP C C T TCGA-RC-A7SK-01A-11D-A34Z-10 TCGA-RC-A7SK-10A-01D-A34Z-10 g.chr5:158588365C>T c.1535G>A c.(1534-1536)cGc>cAc p.R512H LIHC 5 158603765 158603766 + Nonsense_Mutation DNP CC CC AA TCGA-BC-A10Z-01A-11D-A12Z-10 TCGA-BC-A10Z-11A-11D-A12Z-10 g.chr5:158603765_158603766CC>AA c.495_496GG>TT c.(493-498)ttGGag>ttTTag p.165_166LE>F* LIHC 5 158603773 158603774 + Frame_Shift_Ins INS - - CAAGG TCGA-DD-AADD-01A-11D-A40R-10 TCGA-DD-AADD-10A-01D-A40U-10 g.chr5:158603773_158603774insCAAGG c.487_488insCCTTG c.(487-489)gttfs p.V163fs LUAD 5 158585762 158585762 + Silent SNP T T A TCGA-55-8621-01A-11D-2393-08 TCGA-55-8621-10A-01D-2393-08 g.chr5:158585762T>A c.1908A>T c.(1906-1908)cgA>cgT p.R636R LUAD 5 158589949 158589949 + Silent SNP G G A TCGA-55-8301-01A-11D-2284-08 TCGA-55-8301-10A-01D-2284-08 g.chr5:158589949G>A c.1260C>T c.(1258-1260)acC>acT p.T420T LUAD 5 158595962 158595962 + Missense_Mutation SNP A A C TCGA-49-4505-01A-01D-1931-08 TCGA-49-4505-11A-01D-1265-08 g.chr5:158595962A>C c.1040T>G c.(1039-1041)tTc>tGc p.F347C LUAD 5 158596030 158596030 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr5:158596030C>A c.972G>T c.(970-972)ctG>ctT p.L324L LUSC 5 158585685 158585685 + Missense_Mutation SNP G G A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr5:158585685G>A c.1985C>T c.(1984-1986)tCa>tTa p.S662L LUSC 5 158585996 158585996 + Silent SNP T T G TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr5:158585996T>G c.1674A>C c.(1672-1674)gcA>gcC p.A558A LUSC 5 158588402 158588402 + Missense_Mutation SNP G G C TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr5:158588402G>C c.1498C>G c.(1498-1500)Ctt>Gtt p.L500V LUSC 5 158621750 158621750 + Silent SNP G G A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr5:158621750G>A c.267C>T c.(265-267)ctC>ctT p.L89L LUSC 5 158621832 158621832 + Splice_Site SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr5:158621832C>G c.185G>C c.(184-186)gGt>gCt p.G62A OV 5 158588283 158588283 + Silent SNP G G A TCGA-13-1409-01A-01W-0492-08 TCGA-13-1409-10A-01W-0493-08 g.chr5:158588283G>A c.1617C>T c.(1615-1617)atC>atT p.I539I OV 5 158603759 158603759 + Missense_Mutation SNP T T C TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 g.chr5:158603759T>C c.502A>G c.(502-504)Att>Gtt p.I168V PAAD 5 158596042 158596042 + Silent SNP C C T TCGA-OE-A75W-01A-12D-A32N-08 TCGA-OE-A75W-10A-01D-A32N-08 g.chr5:158596042C>T c.960G>A c.(958-960)acG>acA p.T320T PAAD 5 158621763 158621763 + Frame_Shift_Del DEL A A - TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr5:158621763delA c.254delT c.(253-255)ttgfs p.L85fs PRAD 5 158630643 158630643 + 5'UTR SNP T T C TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 g.chr5:158630643T>C READ 5 158585758 158585758 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:158585758C>T c.1912G>A c.(1912-1914)Gat>Aat p.D638N READ 5 158585904 158585904 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:158585904G>A c.1766C>T c.(1765-1767)aCt>aTt p.T589I READ 5 158588284 158588284 + Missense_Mutation SNP A A G TCGA-DC-6681-01A-11D-1826-10 TCGA-DC-6681-10A-01D-1826-10 g.chr5:158588284A>G c.1616T>C c.(1615-1617)aTc>aCc p.I539T READ 5 158595954 158595954 + Missense_Mutation SNP C C T TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr5:158595954C>T c.1048G>A c.(1048-1050)Gta>Ata p.V350I SKCM 5 158585695 158585695 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr5:158585695G>A c.1975C>T c.(1975-1977)Cct>Tct p.P659S SKCM 5 158585993 158585993 + Silent SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr5:158585993G>A c.1677C>T c.(1675-1677)ggC>ggT p.G559G SKCM 5 158588447 158588447 + Missense_Mutation SNP T T A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr5:158588447T>A c.1453A>T c.(1453-1455)Atg>Ttg p.M485L SKCM 5 158588570 158588570 + Missense_Mutation SNP C C G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr5:158588570C>G c.1330G>C c.(1330-1332)Gtg>Ctg p.V444L SKCM 5 158588571 158588571 + Silent SNP T T G TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr5:158588571T>G c.1329A>C c.(1327-1329)ccA>ccC p.P443P SKCM 5 158601054 158601054 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr5:158601054G>A c.734C>T c.(733-735)tCc>tTc p.S245F SKCM 5 158601155 158601155 + Silent SNP T T C TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr5:158601155T>C c.633A>G c.(631-633)gtA>gtG p.V211V SKCM 5 158609037 158609037 + Missense_Mutation SNP C C G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr5:158609037C>G c.316G>C c.(316-318)Gag>Cag p.E106Q SKCM 5 158609049 158609049 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:158609049G>A c.304C>T c.(304-306)Cgg>Tgg p.R102W SKCM 5 158634789 158634789 + Intron SNP T T C TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr5:158634789T>C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 5 158579948 158579948 single base substitution T C downstream_gene_variant BRCA-EU 5 158581654 158581654 single base substitution C A downstream_gene_variant BRCA-EU 5 158583620 158583620 single base substitution G T downstream_gene_variant BRCA-EU 5 158583992 158583992 single base substitution G A downstream_gene_variant BRCA-EU 5 158584274 158584274 single base substitution A C downstream_gene_variant BRCA-EU 5 158584440 158584440 single base substitution A C 3_prime_UTR_variant BRCA-EU 5 158584440 158584440 single base substitution A C downstream_gene_variant BRCA-EU 5 158584440 158584440 single base substitution A C exon_variant BRCA-EU 5 158584531 158584531 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 158584531 158584531 single base substitution A T downstream_gene_variant BRCA-EU 5 158584531 158584531 single base substitution A T exon_variant BRCA-EU 5 158584632 158584632 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 158584632 158584632 single base substitution C T downstream_gene_variant BRCA-EU 5 158584632 158584632 single base substitution C T exon_variant BRCA-EU 5 158586667 158586667 single base substitution G T downstream_gene_variant BRCA-EU 5 158586667 158586667 single base substitution G T intron_variant BRCA-EU 5 158586780 158586780 single base substitution G A downstream_gene_variant BRCA-EU 5 158586780 158586780 single base substitution G A intron_variant BRCA-EU 5 158586847 158586847 single base substitution G A downstream_gene_variant BRCA-EU 5 158586847 158586847 single base substitution G A intron_variant BRCA-EU 5 158586942 158586942 single base substitution A C downstream_gene_variant BRCA-EU 5 158586942 158586942 single base substitution A C intron_variant BRCA-EU 5 158587086 158587086 single base substitution G A downstream_gene_variant BRCA-EU 5 158587086 158587086 single base substitution G A intron_variant BRCA-EU 5 158587103 158587103 single base substitution T A downstream_gene_variant BRCA-EU 5 158587103 158587103 single base substitution T A intron_variant BRCA-EU 5 158588429 158588429 single base substitution A G downstream_gene_variant BRCA-EU 5 158588429 158588429 single base substitution A G exon_variant BRCA-EU 5 158588429 158588429 single base substitution A G missense_variant F491L 1471T>C BRCA-EU 5 158588429 158588429 single base substitution A G missense_variant F505L 1513T>C BRCA-EU 5 158588429 158588429 single base substitution A G missense_variant F508L 1522T>C BRCA-EU 5 158588429 158588429 single base substitution A G missense_variant F519L 1555T>C BRCA-EU 5 158588429 158588429 single base substitution A G missense_variant F521L 1561T>C BRCA-EU 5 158588429 158588429 single base substitution A G upstream_gene_variant BRCA-EU 5 158588448 158588448 single base substitution C T downstream_gene_variant BRCA-EU 5 158588448 158588448 single base substitution C T exon_variant BRCA-EU 5 158588448 158588448 single base substitution C T synonymous_variant V484V 1452G>A BRCA-EU 5 158588448 158588448 single base substitution C T synonymous_variant V498V 1494G>A BRCA-EU 5 158588448 158588448 single base substitution C T synonymous_variant V501V 1503G>A BRCA-EU 5 158588448 158588448 single base substitution C T synonymous_variant V512V 1536G>A BRCA-EU 5 158588448 158588448 single base substitution C T synonymous_variant V514V 1542G>A BRCA-EU 5 158588448 158588448 single base substitution C T upstream_gene_variant BRCA-EU 5 158588762 158588762 single base substitution G A intron_variant BRCA-EU 5 158588762 158588762 single base substitution G A upstream_gene_variant BRCA-EU 5 158589537 158589537 single base substitution G A intron_variant BRCA-EU 5 158589537 158589537 single base substitution G A upstream_gene_variant BRCA-EU 5 158594159 158594159 single base substitution C T intron_variant BRCA-EU 5 158594159 158594159 single base substitution C T upstream_gene_variant BRCA-EU 5 158595847 158595847 single base substitution G A intron_variant BRCA-EU 5 158596152 158596152 single base substitution T G intron_variant BRCA-EU 5 158596567 158596567 single base substitution C G intron_variant BRCA-EU 5 158597150 158597150 single base substitution C G intron_variant BRCA-EU 5 158597461 158597461 single base substitution C T intron_variant BRCA-EU 5 158597651 158597651 single base substitution G A intron_variant BRCA-EU 5 158597730 158597730 single base substitution G C intron_variant BRCA-EU 5 158598476 158598476 single base substitution G C intron_variant BRCA-EU 5 158599889 158599889 single base substitution T G intron_variant BRCA-EU 5 158602257 158602257 single base substitution A G intron_variant BRCA-EU 5 158602257 158602257 single base substitution A G upstream_gene_variant BRCA-EU 5 158602351 158602351 single base substitution C G intron_variant BRCA-EU 5 158602351 158602351 single base substitution C G upstream_gene_variant BRCA-EU 5 158602498 158602498 single base substitution G A intron_variant BRCA-EU 5 158602498 158602498 single base substitution G A upstream_gene_variant BRCA-EU 5 158602712 158602712 single base substitution G A intron_variant BRCA-EU 5 158602712 158602712 single base substitution G A upstream_gene_variant BRCA-EU 5 158605220 158605220 single base substitution T G downstream_gene_variant BRCA-EU 5 158605220 158605220 single base substitution T G intron_variant BRCA-EU 5 158605220 158605220 single base substitution T G upstream_gene_variant BRCA-EU 5 158605236 158605236 single base substitution T A downstream_gene_variant BRCA-EU 5 158605236 158605236 single base substitution T A intron_variant BRCA-EU 5 158605236 158605236 single base substitution T A upstream_gene_variant BRCA-EU 5 158605259 158605259 single base substitution C T downstream_gene_variant BRCA-EU 5 158605259 158605259 single base substitution C T intron_variant BRCA-EU 5 158605259 158605259 single base substitution C T upstream_gene_variant BRCA-EU 5 158606050 158606050 single base substitution G A downstream_gene_variant BRCA-EU 5 158606050 158606050 single base substitution G A intron_variant BRCA-EU 5 158607626 158607626 single base substitution T A downstream_gene_variant BRCA-EU 5 158607626 158607626 single base substitution T A intron_variant BRCA-EU 5 158608324 158608324 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 158608324 158608324 deletion of <=200bp A - intron_variant BRCA-EU 5 158608944 158608944 single base substitution C T downstream_gene_variant BRCA-EU 5 158608944 158608944 single base substitution C T intron_variant BRCA-EU 5 158608980 158608980 single base substitution T C exon_variant BRCA-EU 5 158608980 158608980 single base substitution T C missense_variant T125A 373A>G BRCA-EU 5 158608980 158608980 single base substitution T C missense_variant T139A 415A>G BRCA-EU 5 158608980 158608980 single base substitution T C missense_variant T142A 424A>G BRCA-EU 5 158608980 158608980 single base substitution T C missense_variant T153A 457A>G BRCA-EU 5 158608980 158608980 single base substitution T C missense_variant T155A 463A>G BRCA-EU 5 158609252 158609252 single base substitution T A intron_variant BRCA-EU 5 158609874 158609874 deletion of <=200bp T - intron_variant BRCA-EU 5 158614305 158614305 single base substitution C A intron_variant BRCA-EU 5 158614736 158614736 single base substitution G A intron_variant BRCA-EU 5 158614970 158614970 single base substitution G A intron_variant BRCA-EU 5 158615495 158615495 single base substitution C A intron_variant BRCA-EU 5 158615538 158615538 insertion of <=200bp - C intron_variant BRCA-EU 5 158615988 158615988 single base substitution C T intron_variant BRCA-EU 5 158616212 158616212 single base substitution T G intron_variant BRCA-EU 5 158617324 158617324 single base substitution G A intron_variant BRCA-EU 5 158618668 158618668 single base substitution C T intron_variant BRCA-EU 5 158619324 158619324 single base substitution G C intron_variant BRCA-EU 5 158619408 158619408 single base substitution C T intron_variant BRCA-EU 5 158619547 158619547 single base substitution C A intron_variant BRCA-EU 5 158620747 158620747 single base substitution C A intron_variant BRCA-EU 5 158621004 158621004 single base substitution A T intron_variant BRCA-EU 5 158621133 158621133 single base substitution A G intron_variant BRCA-EU 5 158621162 158621162 single base substitution A G intron_variant BRCA-EU 5 158622661 158622661 single base substitution C G intron_variant BRCA-EU 5 158622678 158622678 single base substitution T G intron_variant BRCA-EU 5 158624175 158624175 single base substitution T A intron_variant BRCA-EU 5 158624684 158624684 single base substitution A C intron_variant BRCA-EU 5 158624875 158624875 single base substitution G A intron_variant BRCA-EU 5 158625426 158625427 deletion of <=200bp GC - intron_variant BRCA-EU 5 158626700 158626700 single base substitution T G intron_variant BRCA-EU 5 158627264 158627264 deletion of <=200bp A - intron_variant BRCA-EU 5 158627399 158627399 single base substitution A G intron_variant BRCA-EU 5 158628377 158628377 single base substitution G A intron_variant BRCA-EU 5 158629330 158629330 single base substitution C G intron_variant BRCA-EU 5 158629457 158629457 single base substitution G A intron_variant BRCA-EU 5 158630383 158630383 single base substitution A C intron_variant BRCA-EU 5 158631321 158631321 single base substitution G A intron_variant BRCA-EU 5 158632665 158632665 single base substitution C T intron_variant BRCA-EU 5 158633234 158633234 single base substitution G T intron_variant BRCA-EU 5 158635560 158635560 single base substitution G A intron_variant BRCA-EU 5 158635560 158635560 single base substitution G A upstream_gene_variant BRCA-EU 5 158636057 158636057 single base substitution G A intron_variant BRCA-EU 5 158636057 158636057 single base substitution G A upstream_gene_variant BRCA-EU 5 158638775 158638775 single base substitution T C upstream_gene_variant BRCA-EU 5 158639951 158639951 single base substitution C A upstream_gene_variant BRCA-EU 5 158641774 158641774 single base substitution C T upstream_gene_variant BRCA-FR 5 158579783 158579783 single base substitution G A downstream_gene_variant BRCA-FR 5 158584531 158584531 single base substitution A T 3_prime_UTR_variant BRCA-FR 5 158584531 158584531 single base substitution A T downstream_gene_variant BRCA-FR 5 158584531 158584531 single base substitution A T exon_variant BRCA-FR 5 158586780 158586780 single base substitution G A downstream_gene_variant BRCA-FR 5 158586780 158586780 single base substitution G A intron_variant BRCA-FR 5 158586847 158586847 single base substitution G A downstream_gene_variant BRCA-FR 5 158586847 158586847 single base substitution G A intron_variant BRCA-FR 5 158587086 158587086 single base substitution G A downstream_gene_variant BRCA-FR 5 158587086 158587086 single base substitution G A intron_variant BRCA-FR 5 158595847 158595847 single base substitution G A intron_variant BRCA-FR 5 158597150 158597150 single base substitution C G intron_variant BRCA-FR 5 158598476 158598476 single base substitution G C intron_variant BRCA-FR 5 158605236 158605236 single base substitution T A downstream_gene_variant BRCA-FR 5 158605236 158605236 single base substitution T A intron_variant BRCA-FR 5 158605236 158605236 single base substitution T A upstream_gene_variant BRCA-FR 5 158607324 158607324 single base substitution T C downstream_gene_variant BRCA-FR 5 158607324 158607324 single base substitution T C intron_variant BRCA-FR 5 158611478 158611478 single base substitution G T intron_variant BRCA-FR 5 158617178 158617178 single base substitution T G intron_variant BRCA-FR 5 158619324 158619324 single base substitution G C intron_variant BRCA-FR 5 158619547 158619547 single base substitution C A intron_variant BRCA-FR 5 158622419 158622419 single base substitution C A intron_variant BRCA-FR 5 158622661 158622661 single base substitution C G intron_variant BRCA-FR 5 158624875 158624875 single base substitution G A intron_variant BRCA-FR 5 158632476 158632476 single base substitution G C intron_variant BRCA-FR 5 158638324 158638324 single base substitution G A upstream_gene_variant BRCA-UK 5 158594159 158594159 single base substitution C T intron_variant BRCA-UK 5 158594159 158594159 single base substitution C T upstream_gene_variant BRCA-UK 5 158596203 158596203 single base substitution C G intron_variant BRCA-UK 5 158612967 158612967 single base substitution C G intron_variant BRCA-UK 5 158613769 158613769 single base substitution G C intron_variant BRCA-UK 5 158623443 158623443 single base substitution G C intron_variant BRCA-UK 5 158626700 158626700 single base substitution T G intron_variant BRCA-US 5 158584471 158584471 single base substitution C T 3_prime_UTR_variant BRCA-US 5 158584471 158584471 single base substitution C T downstream_gene_variant BRCA-US 5 158584471 158584471 single base substitution C T exon_variant BRCA-US 5 158601064 158601064 single base substitution G A stop_gained Q242* 724C>T BRCA-US 5 158601064 158601064 single base substitution G A stop_gained Q256* 766C>T BRCA-US 5 158601064 158601064 single base substitution G A stop_gained Q259* 775C>T BRCA-US 5 158601064 158601064 single base substitution G A stop_gained Q270* 808C>T BRCA-US 5 158601064 158601064 single base substitution G A stop_gained Q272* 814C>T BRCA-US 5 158601064 158601064 single base substitution G A upstream_gene_variant BRCA-US 5 158601156 158601156 single base substitution A G missense_variant V211A 632T>C BRCA-US 5 158601156 158601156 single base substitution A G missense_variant V225A 674T>C BRCA-US 5 158601156 158601156 single base substitution A G missense_variant V228A 683T>C BRCA-US 5 158601156 158601156 single base substitution A G missense_variant V239A 716T>C BRCA-US 5 158601156 158601156 single base substitution A G missense_variant V241A 722T>C BRCA-US 5 158601156 158601156 single base substitution A G upstream_gene_variant BRCA-US 5 158630600 158630600 single base substitution G A exon_variant BRCA-US 5 158630600 158630600 single base substitution G A missense_variant A23V 68C>T BRCA-US 5 158630600 158630600 single base substitution G A missense_variant A26V 77C>T BRCA-US 5 158630600 158630600 single base substitution G A missense_variant A37V 110C>T BRCA-US 5 158630600 158630600 single base substitution G A missense_variant A39V 116C>T BRCA-US 5 158630600 158630600 single base substitution G A missense_variant A9V 26C>T BRCA-US 5 158630630 158630630 deletion of <=200bp T - 5_prime_UTR_variant BRCA-US 5 158630630 158630630 deletion of <=200bp T - exon_variant BRCA-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N13 BRCA-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N16 BRCA-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N27 BRCA-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N29 BTCA-JP 5 158595966 158595966 single base substitution G C intron_variant BTCA-JP 5 158595966 158595966 single base substitution G C missense_variant L346V 1036C>G BTCA-JP 5 158595966 158595966 single base substitution G C missense_variant L360V 1078C>G BTCA-JP 5 158595966 158595966 single base substitution G C missense_variant L363V 1087C>G BTCA-JP 5 158595966 158595966 single base substitution G C missense_variant L374V 1120C>G BTCA-JP 5 158595966 158595966 single base substitution G C missense_variant L376V 1126C>G BTCA-JP 5 158609088 158609088 single base substitution A C intron_variant CESC-US 5 158584523 158584523 single base substitution G C 3_prime_UTR_variant CESC-US 5 158584523 158584523 single base substitution G C downstream_gene_variant CESC-US 5 158584523 158584523 single base substitution G C exon_variant CESC-US 5 158585861 158585861 single base substitution G A downstream_gene_variant CESC-US 5 158585861 158585861 single base substitution G A exon_variant CESC-US 5 158585861 158585861 single base substitution G A synonymous_variant V603V 1809C>T CESC-US 5 158585861 158585861 single base substitution G A synonymous_variant V617V 1851C>T CESC-US 5 158585861 158585861 single base substitution G A synonymous_variant V620V 1860C>T CESC-US 5 158585861 158585861 single base substitution G A synonymous_variant V631V 1893C>T CESC-US 5 158585861 158585861 single base substitution G A synonymous_variant V633V 1899C>T CESC-US 5 158596779 158596779 single base substitution G C exon_variant CESC-US 5 158596779 158596779 single base substitution G C missense_variant F282L 846C>G CESC-US 5 158596779 158596779 single base substitution G C missense_variant F296L 888C>G CESC-US 5 158596779 158596779 single base substitution G C missense_variant F299L 897C>G CESC-US 5 158596779 158596779 single base substitution G C missense_variant F310L 930C>G CESC-US 5 158596779 158596779 single base substitution G C missense_variant F312L 936C>G CESC-US 5 158630642 158630643 deletion of <=200bp TT - 5_prime_UTR_variant CESC-US 5 158630642 158630643 deletion of <=200bp TT - exon_variant CESC-US 5 158630642 158630643 deletion of <=200bp TT - frameshift_variant K12 CESC-US 5 158630642 158630643 deletion of <=200bp TT - frameshift_variant K23 CESC-US 5 158630642 158630643 deletion of <=200bp TT - frameshift_variant K25 CESC-US 5 158630642 158630643 deletion of <=200bp TT - frameshift_variant K9 CLLE-ES 5 158583204 158583204 single base substitution T C downstream_gene_variant CLLE-ES 5 158589733 158589733 single base substitution C T intron_variant CLLE-ES 5 158589733 158589733 single base substitution C T upstream_gene_variant CLLE-ES 5 158614525 158614525 single base substitution C A intron_variant COAD-US 5 158588274 158588274 single base substitution C T downstream_gene_variant COAD-US 5 158588274 158588274 single base substitution C T exon_variant COAD-US 5 158588274 158588274 single base substitution C T splice_region_variant COAD-US 5 158588350 158588350 single base substitution T G downstream_gene_variant COAD-US 5 158588350 158588350 single base substitution T G exon_variant COAD-US 5 158588350 158588350 single base substitution T G missense_variant N517T 1550A>C COAD-US 5 158588350 158588350 single base substitution T G missense_variant N531T 1592A>C COAD-US 5 158588350 158588350 single base substitution T G missense_variant N534T 1601A>C COAD-US 5 158588350 158588350 single base substitution T G missense_variant N545T 1634A>C COAD-US 5 158588350 158588350 single base substitution T G missense_variant N547T 1640A>C COAD-US 5 158588427 158588427 single base substitution G A downstream_gene_variant COAD-US 5 158588427 158588427 single base substitution G A exon_variant COAD-US 5 158588427 158588427 single base substitution G A synonymous_variant F491F 1473C>T COAD-US 5 158588427 158588427 single base substitution G A synonymous_variant F505F 1515C>T COAD-US 5 158588427 158588427 single base substitution G A synonymous_variant F508F 1524C>T COAD-US 5 158588427 158588427 single base substitution G A synonymous_variant F519F 1557C>T COAD-US 5 158588427 158588427 single base substitution G A synonymous_variant F521F 1563C>T COAD-US 5 158588427 158588427 single base substitution G A upstream_gene_variant COAD-US 5 158595954 158595954 single base substitution C T intron_variant COAD-US 5 158595954 158595954 single base substitution C T missense_variant V350I 1048G>A COAD-US 5 158595954 158595954 single base substitution C T missense_variant V364I 1090G>A COAD-US 5 158595954 158595954 single base substitution C T missense_variant V367I 1099G>A COAD-US 5 158595954 158595954 single base substitution C T missense_variant V378I 1132G>A COAD-US 5 158595954 158595954 single base substitution C T missense_variant V380I 1138G>A COAD-US 5 158595987 158595987 single base substitution C G intron_variant COAD-US 5 158595987 158595987 single base substitution C G missense_variant A339P 1015G>C COAD-US 5 158595987 158595987 single base substitution C G missense_variant A353P 1057G>C COAD-US 5 158595987 158595987 single base substitution C G missense_variant A356P 1066G>C COAD-US 5 158595987 158595987 single base substitution C G missense_variant A367P 1099G>C COAD-US 5 158595987 158595987 single base substitution C G missense_variant A369P 1105G>C COAD-US 5 158596066 158596066 deletion of <=200bp A - splice_region_variant COAD-US 5 158601095 158601095 single base substitution G A synonymous_variant F231F 693C>T COAD-US 5 158601095 158601095 single base substitution G A synonymous_variant F245F 735C>T COAD-US 5 158601095 158601095 single base substitution G A synonymous_variant F248F 744C>T COAD-US 5 158601095 158601095 single base substitution G A synonymous_variant F259F 777C>T COAD-US 5 158601095 158601095 single base substitution G A synonymous_variant F261F 783C>T COAD-US 5 158601095 158601095 single base substitution G A upstream_gene_variant COAD-US 5 158603693 158603693 single base substitution T C missense_variant N190D 568A>G COAD-US 5 158603693 158603693 single base substitution T C missense_variant N204D 610A>G COAD-US 5 158603693 158603693 single base substitution T C missense_variant N207D 619A>G COAD-US 5 158603693 158603693 single base substitution T C missense_variant N218D 652A>G COAD-US 5 158603693 158603693 single base substitution T C missense_variant N220D 658A>G COAD-US 5 158603693 158603693 single base substitution T C upstream_gene_variant COAD-US 5 158603698 158603698 single base substitution C T missense_variant G188E 563G>A COAD-US 5 158603698 158603698 single base substitution C T missense_variant G202E 605G>A COAD-US 5 158603698 158603698 single base substitution C T missense_variant G205E 614G>A COAD-US 5 158603698 158603698 single base substitution C T missense_variant G216E 647G>A COAD-US 5 158603698 158603698 single base substitution C T missense_variant G218E 653G>A COAD-US 5 158603698 158603698 single base substitution C T upstream_gene_variant COAD-US 5 158621754 158621754 single base substitution A G exon_variant COAD-US 5 158621754 158621754 single base substitution A G missense_variant L102P 305T>C COAD-US 5 158621754 158621754 single base substitution A G missense_variant L105P 314T>C COAD-US 5 158621754 158621754 single base substitution A G missense_variant L116P 347T>C COAD-US 5 158621754 158621754 single base substitution A G missense_variant L118P 353T>C COAD-US 5 158621754 158621754 single base substitution A G missense_variant L88P 263T>C COAD-US 5 158621762 158621762 insertion of <=200bp - A exon_variant COAD-US 5 158621762 158621762 insertion of <=200bp - A frameshift_variant L102L? COAD-US 5 158621762 158621762 insertion of <=200bp - A frameshift_variant L113L? COAD-US 5 158621762 158621762 insertion of <=200bp - A frameshift_variant L115L? COAD-US 5 158621762 158621762 insertion of <=200bp - A frameshift_variant L85L? COAD-US 5 158621762 158621762 insertion of <=200bp - A frameshift_variant L99L? COAD-US 5 158630537 158630537 single base substitution T C exon_variant COAD-US 5 158630537 158630537 single base substitution T C missense_variant D30G 89A>G COAD-US 5 158630537 158630537 single base substitution T C missense_variant D44G 131A>G COAD-US 5 158630537 158630537 single base substitution T C missense_variant D47G 140A>G COAD-US 5 158630537 158630537 single base substitution T C missense_variant D58G 173A>G COAD-US 5 158630537 158630537 single base substitution T C missense_variant D60G 179A>G COAD-US 5 158630630 158630630 deletion of <=200bp T - 5_prime_UTR_variant COAD-US 5 158630630 158630630 deletion of <=200bp T - exon_variant COAD-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N13 COAD-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N16 COAD-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N27 COAD-US 5 158630630 158630630 deletion of <=200bp T - frameshift_variant N29 COAD-US 5 158630630 158630631 deletion of <=200bp TT - 5_prime_UTR_variant COAD-US 5 158630630 158630631 deletion of <=200bp TT - exon_variant COAD-US 5 158630630 158630631 deletion of <=200bp TT - frameshift_variant N13 COAD-US 5 158630630 158630631 deletion of <=200bp TT - frameshift_variant N16 COAD-US 5 158630630 158630631 deletion of <=200bp TT - frameshift_variant N27 COAD-US 5 158630630 158630631 deletion of <=200bp TT - frameshift_variant N29 COAD-US 5 158630639 158630639 single base substitution T C 5_prime_UTR_variant COAD-US 5 158630639 158630639 single base substitution T C exon_variant COAD-US 5 158630639 158630639 single base substitution T C missense_variant K10R 29A>G COAD-US 5 158630639 158630639 single base substitution T C missense_variant K13R 38A>G COAD-US 5 158630639 158630639 single base substitution T C missense_variant K24R 71A>G COAD-US 5 158630639 158630639 single base substitution T C missense_variant K26R 77A>G COAD-US 5 158630640 158630640 single base substitution T C 5_prime_UTR_variant COAD-US 5 158630640 158630640 single base substitution T C exon_variant COAD-US 5 158630640 158630640 single base substitution T C missense_variant K10E 28A>G COAD-US 5 158630640 158630640 single base substitution T C missense_variant K13E 37A>G COAD-US 5 158630640 158630640 single base substitution T C missense_variant K24E 70A>G COAD-US 5 158630640 158630640 single base substitution T C missense_variant K26E 76A>G COAD-US 5 158630641 158630641 single base substitution C T 5_prime_UTR_variant COAD-US 5 158630641 158630641 single base substitution C T exon_variant COAD-US 5 158630641 158630641 single base substitution C T synonymous_variant K12K 36G>A COAD-US 5 158630641 158630641 single base substitution C T synonymous_variant K23K 69G>A COAD-US 5 158630641 158630641 single base substitution C T synonymous_variant K25K 75G>A COAD-US 5 158630641 158630641 single base substitution C T synonymous_variant K9K 27G>A COAD-US 5 158634800 158634800 single base substitution C T intron_variant COAD-US 5 158634800 158634800 single base substitution C T missense_variant R3K 8G>A COAD-US 5 158634800 158634800 single base substitution C T upstream_gene_variant COCA-CN 5 158585728 158585728 single base substitution C A downstream_gene_variant COCA-CN 5 158585728 158585728 single base substitution C A exon_variant COCA-CN 5 158585728 158585728 single base substitution C A intron_variant COCA-CN 5 158585728 158585728 single base substitution C A stop_gained E648* 1942G>T COCA-CN 5 158585728 158585728 single base substitution C A stop_gained E662* 1984G>T COCA-CN 5 158585728 158585728 single base substitution C A stop_gained E665* 1993G>T COCA-CN 5 158585728 158585728 single base substitution C A stop_gained E676* 2026G>T COCA-CN 5 158585728 158585728 single base substitution C A stop_gained E678* 2032G>T COCA-CN 5 158585869 158585869 single base substitution G A downstream_gene_variant COCA-CN 5 158585869 158585869 single base substitution G A exon_variant COCA-CN 5 158585869 158585869 single base substitution G A stop_gained Q601* 1801C>T COCA-CN 5 158585869 158585869 single base substitution G A stop_gained Q615* 1843C>T COCA-CN 5 158585869 158585869 single base substitution G A stop_gained Q618* 1852C>T COCA-CN 5 158585869 158585869 single base substitution G A stop_gained Q629* 1885C>T COCA-CN 5 158585869 158585869 single base substitution G A stop_gained Q631* 1891C>T COCA-CN 5 158585896 158585896 single base substitution C A downstream_gene_variant COCA-CN 5 158585896 158585896 single base substitution C A exon_variant COCA-CN 5 158585896 158585896 single base substitution C A missense_variant V592F 1774G>T COCA-CN 5 158585896 158585896 single base substitution C A missense_variant V606F 1816G>T COCA-CN 5 158585896 158585896 single base substitution C A missense_variant V609F 1825G>T COCA-CN 5 158585896 158585896 single base substitution C A missense_variant V620F 1858G>T COCA-CN 5 158585896 158585896 single base substitution C A missense_variant V622F 1864G>T COCA-CN 5 158596989 158596989 single base substitution T C intron_variant COCA-CN 5 158600110 158600110 single base substitution A C intron_variant COCA-CN 5 158614180 158614180 single base substitution T C intron_variant COCA-CN 5 158630629 158630629 single base substitution G T 5_prime_UTR_variant COCA-CN 5 158630629 158630629 single base substitution G T exon_variant COCA-CN 5 158630629 158630629 single base substitution G T missense_variant N13K 39C>A COCA-CN 5 158630629 158630629 single base substitution G T missense_variant N16K 48C>A COCA-CN 5 158630629 158630629 single base substitution G T missense_variant N27K 81C>A COCA-CN 5 158630629 158630629 single base substitution G T missense_variant N29K 87C>A COCA-CN 5 158630640 158630640 single base substitution T C 5_prime_UTR_variant COCA-CN 5 158630640 158630640 single base substitution T C exon_variant COCA-CN 5 158630640 158630640 single base substitution T C missense_variant K10E 28A>G COCA-CN 5 158630640 158630640 single base substitution T C missense_variant K13E 37A>G COCA-CN 5 158630640 158630640 single base substitution T C missense_variant K24E 70A>G COCA-CN 5 158630640 158630640 single base substitution T C missense_variant K26E 76A>G COCA-CN 5 158630641 158630641 single base substitution C T 5_prime_UTR_variant COCA-CN 5 158630641 158630641 single base substitution C T exon_variant COCA-CN 5 158630641 158630641 single base substitution C T synonymous_variant K12K 36G>A COCA-CN 5 158630641 158630641 single base substitution C T synonymous_variant K23K 69G>A COCA-CN 5 158630641 158630641 single base substitution C T synonymous_variant K25K 75G>A COCA-CN 5 158630641 158630641 single base substitution C T synonymous_variant K9K 27G>A COCA-CN 5 158630642 158630642 single base substitution T C 5_prime_UTR_variant COCA-CN 5 158630642 158630642 single base substitution T C exon_variant COCA-CN 5 158630642 158630642 single base substitution T C missense_variant K12R 35A>G COCA-CN 5 158630642 158630642 single base substitution T C missense_variant K23R 68A>G COCA-CN 5 158630642 158630642 single base substitution T C missense_variant K25R 74A>G COCA-CN 5 158630642 158630642 single base substitution T C missense_variant K9R 26A>G COCA-CN 5 158636737 158636737 single base substitution G T exon_variant COCA-CN 5 158636737 158636737 single base substitution G T intron_variant COCA-CN 5 158636737 158636737 single base substitution G T upstream_gene_variant COCA-CN 5 158636932 158636932 single base substitution G A 5_prime_UTR_variant COCA-CN 5 158636932 158636932 single base substitution G A upstream_gene_variant COCA-CN 5 158639854 158639854 single base substitution A C upstream_gene_variant EOPC-DE 5 158614247 158614247 single base substitution G A intron_variant ESAD-UK 5 158579908 158579908 single base substitution T C downstream_gene_variant ESAD-UK 5 158579925 158579925 deletion of <=200bp A - downstream_gene_variant ESAD-UK 5 158580378 158580378 single base substitution G A downstream_gene_variant ESAD-UK 5 158580519 158580519 single base substitution G C downstream_gene_variant ESAD-UK 5 158580975 158580975 single base substitution C T downstream_gene_variant ESAD-UK 5 158581670 158581670 single base substitution G A downstream_gene_variant ESAD-UK 5 158584230 158584230 single base substitution G A downstream_gene_variant ESAD-UK 5 158584277 158584277 single base substitution C G downstream_gene_variant ESAD-UK 5 158585359 158585359 single base substitution T A 3_prime_UTR_variant ESAD-UK 5 158585359 158585359 single base substitution T A downstream_gene_variant ESAD-UK 5 158585359 158585359 single base substitution T A exon_variant ESAD-UK 5 158586687 158586687 single base substitution A C downstream_gene_variant ESAD-UK 5 158586687 158586687 single base substitution A C intron_variant ESAD-UK 5 158588822 158588822 single base substitution A T intron_variant ESAD-UK 5 158588822 158588822 single base substitution A T upstream_gene_variant ESAD-UK 5 158591634 158591634 single base substitution C T intron_variant ESAD-UK 5 158591634 158591634 single base substitution C T upstream_gene_variant ESAD-UK 5 158593477 158593477 single base substitution C A intron_variant ESAD-UK 5 158593477 158593477 single base substitution C A upstream_gene_variant ESAD-UK 5 158595042 158595042 deletion of <=200bp A - intron_variant ESAD-UK 5 158595595 158595595 single base substitution T C intron_variant ESAD-UK 5 158596568 158596568 insertion of <=200bp - A intron_variant ESAD-UK 5 158600560 158600560 single base substitution C T intron_variant ESAD-UK 5 158602009 158602009 single base substitution G A intron_variant ESAD-UK 5 158602009 158602009 single base substitution G A upstream_gene_variant ESAD-UK 5 158602163 158602163 single base substitution C T intron_variant ESAD-UK 5 158602163 158602163 single base substitution C T upstream_gene_variant ESAD-UK 5 158602312 158602312 deletion of <=200bp A - intron_variant ESAD-UK 5 158602312 158602312 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 158603111 158603111 single base substitution C A intron_variant ESAD-UK 5 158603111 158603111 single base substitution C A upstream_gene_variant ESAD-UK 5 158608314 158608314 single base substitution A C downstream_gene_variant ESAD-UK 5 158608314 158608314 single base substitution A C intron_variant ESAD-UK 5 158612066 158612066 single base substitution G A intron_variant ESAD-UK 5 158612931 158612931 single base substitution C G intron_variant ESAD-UK 5 158613063 158613063 single base substitution C T intron_variant ESAD-UK 5 158615495 158615495 single base substitution C A intron_variant ESAD-UK 5 158618434 158618434 deletion of <=200bp A - intron_variant ESAD-UK 5 158621282 158621282 single base substitution G T intron_variant ESAD-UK 5 158622741 158622741 single base substitution A T intron_variant ESAD-UK 5 158622886 158622886 single base substitution C T intron_variant ESAD-UK 5 158623434 158623434 single base substitution T C intron_variant ESAD-UK 5 158623890 158623890 single base substitution G A intron_variant ESAD-UK 5 158627179 158627179 single base substitution A G intron_variant ESAD-UK 5 158627359 158627359 single base substitution G A intron_variant ESAD-UK 5 158627865 158627865 single base substitution G C intron_variant ESAD-UK 5 158628113 158628113 single base substitution G A intron_variant ESAD-UK 5 158628253 158628253 single base substitution G A intron_variant ESAD-UK 5 158631580 158631580 single base substitution G A intron_variant ESAD-UK 5 158631710 158631710 single base substitution G C intron_variant ESAD-UK 5 158632434 158632434 single base substitution A G intron_variant ESAD-UK 5 158633365 158633365 single base substitution A T intron_variant ESAD-UK 5 158639755 158639755 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 5 158642001 158642001 insertion of <=200bp - A upstream_gene_variant ESCA-CN 5 158603751 158603751 single base substitution G C missense_variant I170M 510C>G ESCA-CN 5 158603751 158603751 single base substitution G C missense_variant I184M 552C>G ESCA-CN 5 158603751 158603751 single base substitution G C missense_variant I187M 561C>G ESCA-CN 5 158603751 158603751 single base substitution G C missense_variant I198M 594C>G ESCA-CN 5 158603751 158603751 single base substitution G C missense_variant I200M 600C>G ESCA-CN 5 158603751 158603751 single base substitution G C upstream_gene_variant KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT frameshift_variant L221QCP? KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT frameshift_variant L235QCP? KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT frameshift_variant L238QCP? KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT frameshift_variant L249QCP? KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT frameshift_variant L251QCP? KIRC-US 5 158601127 158601127 insertion of <=200bp - GGACATT upstream_gene_variant KIRC-US 5 158603687 158603687 single base substitution A G synonymous_variant L192L 574T>C KIRC-US 5 158603687 158603687 single base substitution A G synonymous_variant L206L 616T>C KIRC-US 5 158603687 158603687 single base substitution A G synonymous_variant L209L 625T>C KIRC-US 5 158603687 158603687 single base substitution A G synonymous_variant L220L 658T>C KIRC-US 5 158603687 158603687 single base substitution A G synonymous_variant L222L 664T>C KIRC-US 5 158603687 158603687 single base substitution A G upstream_gene_variant KIRC-US 5 158603776 158603776 single base substitution A C missense_variant L162R 485T>G KIRC-US 5 158603776 158603776 single base substitution A C missense_variant L176R 527T>G KIRC-US 5 158603776 158603776 single base substitution A C missense_variant L179R 536T>G KIRC-US 5 158603776 158603776 single base substitution A C missense_variant L190R 569T>G KIRC-US 5 158603776 158603776 single base substitution A C missense_variant L192R 575T>G KIRC-US 5 158603776 158603776 single base substitution A C upstream_gene_variant LAML-KR 5 158614180 158614180 single base substitution T C intron_variant LGG-US 5 158601111 158601111 single base substitution A C missense_variant V226G 677T>G LGG-US 5 158601111 158601111 single base substitution A C missense_variant V240G 719T>G LGG-US 5 158601111 158601111 single base substitution A C missense_variant V243G 728T>G LGG-US 5 158601111 158601111 single base substitution A C missense_variant V254G 761T>G LGG-US 5 158601111 158601111 single base substitution A C missense_variant V256G 767T>G LGG-US 5 158601111 158601111 single base substitution A C upstream_gene_variant LGG-US 5 158621725 158621725 single base substitution T C missense_variant R112G 334A>G LGG-US 5 158621725 158621725 single base substitution T C missense_variant R115G 343A>G LGG-US 5 158621725 158621725 single base substitution T C missense_variant R126G 376A>G LGG-US 5 158621725 158621725 single base substitution T C missense_variant R128G 382A>G LGG-US 5 158621725 158621725 single base substitution T C missense_variant R98G 292A>G LGG-US 5 158621725 158621725 single base substitution T C splice_region_variant LICA-CN 5 158585711 158585711 single base substitution C A downstream_gene_variant LICA-CN 5 158585711 158585711 single base substitution C A exon_variant LICA-CN 5 158585711 158585711 single base substitution C A intron_variant LICA-CN 5 158585711 158585711 single base substitution C A synonymous_variant A653A 1959G>T LICA-CN 5 158585711 158585711 single base substitution C A synonymous_variant A667A 2001G>T LICA-CN 5 158585711 158585711 single base substitution C A synonymous_variant A670A 2010G>T LICA-CN 5 158585711 158585711 single base substitution C A synonymous_variant A681A 2043G>T LICA-CN 5 158585711 158585711 single base substitution C A synonymous_variant A683A 2049G>T LICA-CN 5 158603804 158603804 single base substitution T C missense_variant M153V 457A>G LICA-CN 5 158603804 158603804 single base substitution T C missense_variant M167V 499A>G LICA-CN 5 158603804 158603804 single base substitution T C missense_variant M170V 508A>G LICA-CN 5 158603804 158603804 single base substitution T C missense_variant M181V 541A>G LICA-CN 5 158603804 158603804 single base substitution T C missense_variant M183V 547A>G LICA-CN 5 158603804 158603804 single base substitution T C upstream_gene_variant LICA-FR 5 158584237 158584237 single base substitution C T downstream_gene_variant LICA-FR 5 158585816 158585816 single base substitution T C downstream_gene_variant LICA-FR 5 158585816 158585816 single base substitution T C exon_variant LICA-FR 5 158585816 158585816 single base substitution T C intron_variant LICA-FR 5 158585816 158585816 single base substitution T C synonymous_variant P618P 1854A>G LICA-FR 5 158585816 158585816 single base substitution T C synonymous_variant P632P 1896A>G LICA-FR 5 158585816 158585816 single base substitution T C synonymous_variant P635P 1905A>G LICA-FR 5 158585816 158585816 single base substitution T C synonymous_variant P646P 1938A>G LICA-FR 5 158585816 158585816 single base substitution T C synonymous_variant P648P 1944A>G LICA-FR 5 158611444 158611444 single base substitution C T intron_variant LICA-FR 5 158614309 158614309 single base substitution A G intron_variant LICA-FR 5 158624487 158624487 single base substitution T C intron_variant LIHC-US 5 158588365 158588365 single base substitution C T downstream_gene_variant LIHC-US 5 158588365 158588365 single base substitution C T exon_variant LIHC-US 5 158588365 158588365 single base substitution C T missense_variant R512H 1535G>A LIHC-US 5 158588365 158588365 single base substitution C T missense_variant R526H 1577G>A LIHC-US 5 158588365 158588365 single base substitution C T missense_variant R529H 1586G>A LIHC-US 5 158588365 158588365 single base substitution C T missense_variant R540H 1619G>A LIHC-US 5 158588365 158588365 single base substitution C T missense_variant R542H 1625G>A LIHC-US 5 158603765 158603765 single base substitution C A stop_gained E166* 496G>T LIHC-US 5 158603765 158603765 single base substitution C A stop_gained E180* 538G>T LIHC-US 5 158603765 158603765 single base substitution C A stop_gained E183* 547G>T LIHC-US 5 158603765 158603765 single base substitution C A stop_gained E194* 580G>T LIHC-US 5 158603765 158603765 single base substitution C A stop_gained E196* 586G>T LIHC-US 5 158603765 158603765 single base substitution C A upstream_gene_variant LIHC-US 5 158603766 158603766 single base substitution C A missense_variant L165F 495G>T LIHC-US 5 158603766 158603766 single base substitution C A missense_variant L179F 537G>T LIHC-US 5 158603766 158603766 single base substitution C A missense_variant L182F 546G>T LIHC-US 5 158603766 158603766 single base substitution C A missense_variant L193F 579G>T LIHC-US 5 158603766 158603766 single base substitution C A missense_variant L195F 585G>T LIHC-US 5 158603766 158603766 single base substitution C A upstream_gene_variant LINC-JP 5 158595986 158595986 single base substitution G A intron_variant LINC-JP 5 158595986 158595986 single base substitution G A missense_variant A339V 1016C>T LINC-JP 5 158595986 158595986 single base substitution G A missense_variant A353V 1058C>T LINC-JP 5 158595986 158595986 single base substitution G A missense_variant A356V 1067C>T LINC-JP 5 158595986 158595986 single base substitution G A missense_variant A367V 1100C>T LINC-JP 5 158595986 158595986 single base substitution G A missense_variant A369V 1106C>T LINC-JP 5 158596034 158596034 single base substitution A C exon_variant LINC-JP 5 158596034 158596034 single base substitution A C missense_variant I323S 968T>G LINC-JP 5 158596034 158596034 single base substitution A C missense_variant I337S 1010T>G LINC-JP 5 158596034 158596034 single base substitution A C missense_variant I340S 1019T>G LINC-JP 5 158596034 158596034 single base substitution A C missense_variant I351S 1052T>G LINC-JP 5 158596034 158596034 single base substitution A C missense_variant I353S 1058T>G LINC-JP 5 158603919 158603919 single base substitution T C intron_variant LINC-JP 5 158603919 158603919 single base substitution T C upstream_gene_variant LINC-JP 5 158608993 158608993 single base substitution C T exon_variant LINC-JP 5 158608993 158608993 single base substitution C T missense_variant M120I 360G>A LINC-JP 5 158608993 158608993 single base substitution C T missense_variant M134I 402G>A LINC-JP 5 158608993 158608993 single base substitution C T missense_variant M137I 411G>A LINC-JP 5 158608993 158608993 single base substitution C T missense_variant M148I 444G>A LINC-JP 5 158608993 158608993 single base substitution C T missense_variant M150I 450G>A LINC-JP 5 158609946 158609946 single base substitution T C intron_variant LINC-JP 5 158621913 158621913 single base substitution T C intron_variant LINC-JP 5 158622000 158622000 single base substitution T C intron_variant LINC-JP 5 158637139 158637139 single base substitution A G upstream_gene_variant LIRI-JP 5 158583142 158583142 single base substitution T G downstream_gene_variant LIRI-JP 5 158583886 158583886 single base substitution A G downstream_gene_variant LIRI-JP 5 158584029 158584029 single base substitution G A downstream_gene_variant LIRI-JP 5 158584135 158584135 single base substitution A C downstream_gene_variant LIRI-JP 5 158588278 158588278 single base substitution T C downstream_gene_variant LIRI-JP 5 158588278 158588278 single base substitution T C exon_variant LIRI-JP 5 158588278 158588278 single base substitution T C missense_variant Y541C 1622A>G LIRI-JP 5 158588278 158588278 single base substitution T C missense_variant Y555C 1664A>G LIRI-JP 5 158588278 158588278 single base substitution T C missense_variant Y558C 1673A>G LIRI-JP 5 158588278 158588278 single base substitution T C missense_variant Y569C 1706A>G LIRI-JP 5 158588278 158588278 single base substitution T C missense_variant Y571C 1712A>G LIRI-JP 5 158588489 158588489 single base substitution C T downstream_gene_variant LIRI-JP 5 158588489 158588489 single base substitution C T exon_variant LIRI-JP 5 158588489 158588489 single base substitution C T missense_variant A471T 1411G>A LIRI-JP 5 158588489 158588489 single base substitution C T missense_variant A485T 1453G>A LIRI-JP 5 158588489 158588489 single base substitution C T missense_variant A488T 1462G>A LIRI-JP 5 158588489 158588489 single base substitution C T missense_variant A499T 1495G>A LIRI-JP 5 158588489 158588489 single base substitution C T missense_variant A501T 1501G>A LIRI-JP 5 158588489 158588489 single base substitution C T upstream_gene_variant LIRI-JP 5 158589014 158589014 single base substitution A G intron_variant LIRI-JP 5 158589014 158589014 single base substitution A G upstream_gene_variant LIRI-JP 5 158591084 158591084 single base substitution A G intron_variant LIRI-JP 5 158591084 158591084 single base substitution A G upstream_gene_variant LIRI-JP 5 158591411 158591411 single base substitution T C intron_variant LIRI-JP 5 158591411 158591411 single base substitution T C upstream_gene_variant LIRI-JP 5 158599932 158599932 single base substitution T G intron_variant LIRI-JP 5 158600250 158600250 single base substitution C T intron_variant LIRI-JP 5 158600358 158600358 single base substitution A G intron_variant LIRI-JP 5 158600496 158600496 single base substitution T C intron_variant LIRI-JP 5 158600948 158600948 single base substitution C T intron_variant LIRI-JP 5 158601808 158601808 single base substitution T A intron_variant LIRI-JP 5 158601808 158601808 single base substitution T A upstream_gene_variant LIRI-JP 5 158602409 158602409 single base substitution T C intron_variant LIRI-JP 5 158602409 158602409 single base substitution T C upstream_gene_variant LIRI-JP 5 158602531 158602531 single base substitution C A intron_variant LIRI-JP 5 158602531 158602531 single base substitution C A upstream_gene_variant LIRI-JP 5 158604087 158604087 single base substitution G A downstream_gene_variant LIRI-JP 5 158604087 158604087 single base substitution G A intron_variant LIRI-JP 5 158604087 158604087 single base substitution G A upstream_gene_variant LIRI-JP 5 158605422 158605422 single base substitution A G downstream_gene_variant LIRI-JP 5 158605422 158605422 single base substitution A G intron_variant LIRI-JP 5 158605422 158605422 single base substitution A G upstream_gene_variant LIRI-JP 5 158606645 158606645 single base substitution A G downstream_gene_variant LIRI-JP 5 158606645 158606645 single base substitution A G intron_variant LIRI-JP 5 158609096 158609096 single base substitution T C intron_variant LIRI-JP 5 158609759 158609759 single base substitution C T intron_variant LIRI-JP 5 158611395 158611395 single base substitution A T intron_variant LIRI-JP 5 158612293 158612293 single base substitution A C intron_variant LIRI-JP 5 158615693 158615693 single base substitution T C intron_variant LIRI-JP 5 158616529 158616529 single base substitution C T intron_variant LIRI-JP 5 158618050 158618050 single base substitution T C intron_variant LIRI-JP 5 158618480 158618480 single base substitution A C intron_variant LIRI-JP 5 158621049 158621049 single base substitution T C intron_variant LIRI-JP 5 158621359 158621359 single base substitution T C intron_variant LIRI-JP 5 158624166 158624166 single base substitution A G intron_variant LIRI-JP 5 158624691 158624691 single base substitution T C intron_variant LIRI-JP 5 158627679 158627679 single base substitution A C intron_variant LIRI-JP 5 158628397 158628397 single base substitution T C intron_variant LIRI-JP 5 158629170 158629170 single base substitution T C intron_variant LIRI-JP 5 158629778 158629778 single base substitution T C intron_variant LIRI-JP 5 158630641 158630641 single base substitution C T 5_prime_UTR_variant LIRI-JP 5 158630641 158630641 single base substitution C T exon_variant LIRI-JP 5 158630641 158630641 single base substitution C T synonymous_variant K12K 36G>A LIRI-JP 5 158630641 158630641 single base substitution C T synonymous_variant K23K 69G>A LIRI-JP 5 158630641 158630641 single base substitution C T synonymous_variant K25K 75G>A LIRI-JP 5 158630641 158630641 single base substitution C T synonymous_variant K9K 27G>A LIRI-JP 5 158631685 158631685 single base substitution A G intron_variant LIRI-JP 5 158637398 158637398 single base substitution T G upstream_gene_variant LIRI-JP 5 158637446 158637446 deletion of <=200bp T - upstream_gene_variant LIRI-JP 5 158638841 158638841 single base substitution C T upstream_gene_variant LIRI-JP 5 158639539 158639539 single base substitution T C upstream_gene_variant LIRI-JP 5 158640174 158640174 single base substitution T C upstream_gene_variant LIRI-JP 5 158640662 158640662 single base substitution G C upstream_gene_variant LIRI-JP 5 158641675 158641675 single base substitution T C upstream_gene_variant LUSC-KR 5 158584891 158584891 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 158584891 158584891 single base substitution C T downstream_gene_variant LUSC-KR 5 158584891 158584891 single base substitution C T exon_variant LUSC-KR 5 158589518 158589518 single base substitution C A intron_variant LUSC-KR 5 158589518 158589518 single base substitution C A upstream_gene_variant LUSC-KR 5 158592262 158592262 single base substitution G A intron_variant LUSC-KR 5 158592262 158592262 single base substitution G A upstream_gene_variant LUSC-KR 5 158592507 158592507 single base substitution G A intron_variant LUSC-KR 5 158592507 158592507 single base substitution G A upstream_gene_variant LUSC-KR 5 158592742 158592742 single base substitution T A intron_variant LUSC-KR 5 158592742 158592742 single base substitution T A upstream_gene_variant LUSC-KR 5 158600079 158600079 single base substitution A T intron_variant LUSC-KR 5 158606383 158606383 single base substitution T A downstream_gene_variant LUSC-KR 5 158606383 158606383 single base substitution T A intron_variant LUSC-KR 5 158613980 158613980 single base substitution G A intron_variant LUSC-KR 5 158618444 158618444 single base substitution A G intron_variant LUSC-KR 5 158619579 158619579 single base substitution G C intron_variant LUSC-KR 5 158630115 158630115 single base substitution C A intron_variant LUSC-KR 5 158630989 158630989 single base substitution G C intron_variant LUSC-KR 5 158631835 158631835 single base substitution A G intron_variant LUSC-KR 5 158635921 158635921 single base substitution A G intron_variant LUSC-KR 5 158635921 158635921 single base substitution A G upstream_gene_variant LUSC-KR 5 158641054 158641054 single base substitution G T upstream_gene_variant LUSC-US 5 158585685 158585685 single base substitution G A downstream_gene_variant LUSC-US 5 158585685 158585685 single base substitution G A exon_variant LUSC-US 5 158585685 158585685 single base substitution G A intron_variant LUSC-US 5 158585685 158585685 single base substitution G A missense_variant S662L 1985C>T LUSC-US 5 158585685 158585685 single base substitution G A missense_variant S676L 2027C>T LUSC-US 5 158585685 158585685 single base substitution G A missense_variant S679L 2036C>T LUSC-US 5 158585685 158585685 single base substitution G A missense_variant S690L 2069C>T LUSC-US 5 158585685 158585685 single base substitution G A missense_variant S692L 2075C>T LUSC-US 5 158585996 158585996 single base substitution T G downstream_gene_variant LUSC-US 5 158585996 158585996 single base substitution T G exon_variant LUSC-US 5 158585996 158585996 single base substitution T G synonymous_variant A558A 1674A>C LUSC-US 5 158585996 158585996 single base substitution T G synonymous_variant A572A 1716A>C LUSC-US 5 158585996 158585996 single base substitution T G synonymous_variant A575A 1725A>C LUSC-US 5 158585996 158585996 single base substitution T G synonymous_variant A586A 1758A>C LUSC-US 5 158585996 158585996 single base substitution T G synonymous_variant A588A 1764A>C LUSC-US 5 158588402 158588402 single base substitution G C downstream_gene_variant LUSC-US 5 158588402 158588402 single base substitution G C exon_variant LUSC-US 5 158588402 158588402 single base substitution G C missense_variant L500V 1498C>G LUSC-US 5 158588402 158588402 single base substitution G C missense_variant L514V 1540C>G LUSC-US 5 158588402 158588402 single base substitution G C missense_variant L517V 1549C>G LUSC-US 5 158588402 158588402 single base substitution G C missense_variant L528V 1582C>G LUSC-US 5 158588402 158588402 single base substitution G C missense_variant L530V 1588C>G LUSC-US 5 158588402 158588402 single base substitution G C upstream_gene_variant LUSC-US 5 158603839 158603839 single base substitution A G missense_variant M141T 422T>C LUSC-US 5 158603839 158603839 single base substitution A G missense_variant M155T 464T>C LUSC-US 5 158603839 158603839 single base substitution A G missense_variant M158T 473T>C LUSC-US 5 158603839 158603839 single base substitution A G missense_variant M169T 506T>C LUSC-US 5 158603839 158603839 single base substitution A G missense_variant M171T 512T>C LUSC-US 5 158603839 158603839 single base substitution A G upstream_gene_variant LUSC-US 5 158621750 158621750 single base substitution G A exon_variant LUSC-US 5 158621750 158621750 single base substitution G A synonymous_variant L103L 309C>T LUSC-US 5 158621750 158621750 single base substitution G A synonymous_variant L106L 318C>T LUSC-US 5 158621750 158621750 single base substitution G A synonymous_variant L117L 351C>T LUSC-US 5 158621750 158621750 single base substitution G A synonymous_variant L119L 357C>T LUSC-US 5 158621750 158621750 single base substitution G A synonymous_variant L89L 267C>T LUSC-US 5 158621832 158621832 single base substitution C G missense_variant G62A 185G>C LUSC-US 5 158621832 158621832 single base substitution C G missense_variant G76A 227G>C LUSC-US 5 158621832 158621832 single base substitution C G missense_variant G79A 236G>C LUSC-US 5 158621832 158621832 single base substitution C G missense_variant G90A 269G>C LUSC-US 5 158621832 158621832 single base substitution C G missense_variant G92A 275G>C LUSC-US 5 158621832 158621832 single base substitution C G splice_region_variant MALY-DE 5 158583608 158583608 single base substitution A G downstream_gene_variant MALY-DE 5 158590277 158590277 single base substitution C G intron_variant MALY-DE 5 158590277 158590277 single base substitution C G upstream_gene_variant MALY-DE 5 158591889 158591889 single base substitution T A intron_variant MALY-DE 5 158591889 158591889 single base substitution T A upstream_gene_variant MALY-DE 5 158592259 158592259 single base substitution C G intron_variant MALY-DE 5 158592259 158592259 single base substitution C G upstream_gene_variant MALY-DE 5 158600098 158600098 single base substitution A G intron_variant MALY-DE 5 158607181 158607181 single base substitution T C downstream_gene_variant MALY-DE 5 158607181 158607181 single base substitution T C intron_variant MALY-DE 5 158611375 158611375 single base substitution G C intron_variant MALY-DE 5 158622947 158622950 deletion of <=200bp AAGT - intron_variant MALY-DE 5 158624780 158624780 insertion of <=200bp - A intron_variant MALY-DE 5 158630376 158630376 single base substitution A G intron_variant MALY-DE 5 158633773 158633773 single base substitution C T intron_variant MALY-DE 5 158640896 158640896 single base substitution G A upstream_gene_variant MELA-AU 5 158579778 158579778 single base substitution C T downstream_gene_variant MELA-AU 5 158579843 158579843 single base substitution G A downstream_gene_variant MELA-AU 5 158579855 158579855 single base substitution G A downstream_gene_variant MELA-AU 5 158579864 158579864 single base substitution G A downstream_gene_variant MELA-AU 5 158579905 158579905 single base substitution G A downstream_gene_variant MELA-AU 5 158580245 158580245 single base substitution G A downstream_gene_variant MELA-AU 5 158580734 158580734 single base substitution G A downstream_gene_variant MELA-AU 5 158580807 158580807 single base substitution G A downstream_gene_variant MELA-AU 5 158581811 158581811 single base substitution G A downstream_gene_variant MELA-AU 5 158581984 158581984 single base substitution A C downstream_gene_variant MELA-AU 5 158582509 158582509 single base substitution G A downstream_gene_variant MELA-AU 5 158582572 158582572 single base substitution G C downstream_gene_variant MELA-AU 5 158583960 158583960 single base substitution G A downstream_gene_variant MELA-AU 5 158583960 158583961 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 158583961 158583961 single base substitution G A downstream_gene_variant MELA-AU 5 158583965 158583965 single base substitution T G downstream_gene_variant MELA-AU 5 158584416 158584416 single base substitution A T downstream_gene_variant MELA-AU 5 158585917 158585917 single base substitution G A downstream_gene_variant MELA-AU 5 158585917 158585917 single base substitution G A exon_variant MELA-AU 5 158585917 158585917 single base substitution G A missense_variant P585S 1753C>T MELA-AU 5 158585917 158585917 single base substitution G A missense_variant P599S 1795C>T MELA-AU 5 158585917 158585917 single base substitution G A missense_variant P602S 1804C>T MELA-AU 5 158585917 158585917 single base substitution G A missense_variant P613S 1837C>T MELA-AU 5 158585917 158585917 single base substitution G A missense_variant P615S 1843C>T MELA-AU 5 158586271 158586271 single base substitution G A downstream_gene_variant MELA-AU 5 158586271 158586271 single base substitution G A intron_variant MELA-AU 5 158586470 158586470 single base substitution G A downstream_gene_variant MELA-AU 5 158586470 158586470 single base substitution G A intron_variant MELA-AU 5 158586539 158586539 single base substitution C T downstream_gene_variant MELA-AU 5 158586539 158586539 single base substitution C T intron_variant MELA-AU 5 158587012 158587012 single base substitution G A downstream_gene_variant MELA-AU 5 158587012 158587012 single base substitution G A intron_variant MELA-AU 5 158587133 158587133 single base substitution G T downstream_gene_variant MELA-AU 5 158587133 158587133 single base substitution G T intron_variant MELA-AU 5 158588762 158588762 single base substitution G A intron_variant MELA-AU 5 158588762 158588762 single base substitution G A upstream_gene_variant MELA-AU 5 158588764 158588764 single base substitution G A intron_variant MELA-AU 5 158588764 158588764 single base substitution G A upstream_gene_variant MELA-AU 5 158589889 158589889 single base substitution G A intron_variant MELA-AU 5 158589889 158589889 single base substitution G A upstream_gene_variant MELA-AU 5 158589965 158589965 single base substitution G A exon_variant MELA-AU 5 158589965 158589965 single base substitution G A missense_variant S415F 1244C>T MELA-AU 5 158589965 158589965 single base substitution G A missense_variant S429F 1286C>T MELA-AU 5 158589965 158589965 single base substitution G A missense_variant S432F 1295C>T MELA-AU 5 158589965 158589965 single base substitution G A missense_variant S443F 1328C>T MELA-AU 5 158589965 158589965 single base substitution G A missense_variant S445F 1334C>T MELA-AU 5 158589965 158589965 single base substitution G A upstream_gene_variant MELA-AU 5 158591663 158591663 single base substitution G A intron_variant MELA-AU 5 158591663 158591663 single base substitution G A upstream_gene_variant MELA-AU 5 158593131 158593131 single base substitution C T intron_variant MELA-AU 5 158593131 158593131 single base substitution C T upstream_gene_variant MELA-AU 5 158594001 158594001 single base substitution G A intron_variant MELA-AU 5 158594001 158594001 single base substitution G A upstream_gene_variant MELA-AU 5 158594859 158594860 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 158594859 158594860 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 158595711 158595711 single base substitution G A intron_variant MELA-AU 5 158596123 158596123 single base substitution G A intron_variant MELA-AU 5 158598168 158598168 single base substitution G A intron_variant MELA-AU 5 158599271 158599271 single base substitution G A intron_variant MELA-AU 5 158599900 158599900 single base substitution A G intron_variant MELA-AU 5 158600059 158600059 single base substitution G A intron_variant MELA-AU 5 158600130 158600130 single base substitution G C intron_variant MELA-AU 5 158601531 158601531 single base substitution T C intron_variant MELA-AU 5 158601531 158601531 single base substitution T C upstream_gene_variant MELA-AU 5 158601927 158601927 single base substitution G A intron_variant MELA-AU 5 158601927 158601927 single base substitution G A upstream_gene_variant MELA-AU 5 158602673 158602673 single base substitution C G intron_variant MELA-AU 5 158602673 158602673 single base substitution C G upstream_gene_variant MELA-AU 5 158602848 158602848 single base substitution A G intron_variant MELA-AU 5 158602848 158602848 single base substitution A G upstream_gene_variant MELA-AU 5 158604253 158604253 single base substitution C T downstream_gene_variant MELA-AU 5 158604253 158604253 single base substitution C T intron_variant MELA-AU 5 158604253 158604253 single base substitution C T upstream_gene_variant MELA-AU 5 158604423 158604424 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 5 158604423 158604424 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 5 158604423 158604424 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 5 158604827 158604827 single base substitution G A downstream_gene_variant MELA-AU 5 158604827 158604827 single base substitution G A intron_variant MELA-AU 5 158604827 158604827 single base substitution G A upstream_gene_variant MELA-AU 5 158605537 158605537 single base substitution T C downstream_gene_variant MELA-AU 5 158605537 158605537 single base substitution T C intron_variant MELA-AU 5 158605537 158605537 single base substitution T C upstream_gene_variant MELA-AU 5 158607227 158607227 single base substitution A G downstream_gene_variant MELA-AU 5 158607227 158607227 single base substitution A G intron_variant MELA-AU 5 158608462 158608462 single base substitution C T downstream_gene_variant MELA-AU 5 158608462 158608462 single base substitution C T intron_variant MELA-AU 5 158609939 158609939 single base substitution A C intron_variant MELA-AU 5 158611885 158611885 single base substitution G A intron_variant MELA-AU 5 158612247 158612247 single base substitution G A intron_variant MELA-AU 5 158614970 158614970 single base substitution G A intron_variant MELA-AU 5 158615524 158615524 single base substitution G A intron_variant MELA-AU 5 158615540 158615540 single base substitution C T intron_variant MELA-AU 5 158615574 158615574 single base substitution G A intron_variant MELA-AU 5 158616306 158616306 single base substitution G A intron_variant MELA-AU 5 158617517 158617517 single base substitution G A intron_variant MELA-AU 5 158618583 158618583 single base substitution G A intron_variant MELA-AU 5 158618724 158618724 single base substitution T C intron_variant MELA-AU 5 158619280 158619280 single base substitution C T intron_variant MELA-AU 5 158620400 158620400 single base substitution G A intron_variant MELA-AU 5 158620649 158620649 single base substitution G A intron_variant MELA-AU 5 158620825 158620825 single base substitution T C intron_variant MELA-AU 5 158620893 158620893 single base substitution T G intron_variant MELA-AU 5 158622687 158622687 single base substitution G A intron_variant MELA-AU 5 158626081 158626081 single base substitution G A intron_variant MELA-AU 5 158627066 158627066 single base substitution C T intron_variant MELA-AU 5 158627314 158627314 single base substitution G A intron_variant MELA-AU 5 158627435 158627435 single base substitution T A intron_variant MELA-AU 5 158628203 158628203 single base substitution A G intron_variant MELA-AU 5 158629131 158629131 single base substitution C G intron_variant MELA-AU 5 158629917 158629917 single base substitution G A intron_variant MELA-AU 5 158629958 158629958 single base substitution G A intron_variant MELA-AU 5 158630053 158630053 single base substitution C G intron_variant MELA-AU 5 158630109 158630109 single base substitution C A intron_variant MELA-AU 5 158630347 158630347 deletion of <=200bp G - intron_variant MELA-AU 5 158630351 158630351 single base substitution A T intron_variant MELA-AU 5 158632016 158632016 single base substitution A G intron_variant MELA-AU 5 158632113 158632113 single base substitution C T intron_variant MELA-AU 5 158632950 158632950 single base substitution C T intron_variant MELA-AU 5 158633027 158633027 single base substitution C T intron_variant MELA-AU 5 158633776 158633776 single base substitution A G intron_variant MELA-AU 5 158634073 158634073 single base substitution G A intron_variant MELA-AU 5 158634384 158634384 single base substitution A T intron_variant MELA-AU 5 158634791 158634791 single base substitution C T intron_variant MELA-AU 5 158634791 158634791 single base substitution C T missense_variant R6K 17G>A MELA-AU 5 158634791 158634791 single base substitution C T upstream_gene_variant MELA-AU 5 158635609 158635609 single base substitution G A intron_variant MELA-AU 5 158635609 158635609 single base substitution G A upstream_gene_variant MELA-AU 5 158636512 158636512 single base substitution T G 5_prime_UTR_variant MELA-AU 5 158636512 158636512 single base substitution T G intron_variant MELA-AU 5 158636512 158636512 single base substitution T G upstream_gene_variant MELA-AU 5 158639227 158639227 single base substitution G C upstream_gene_variant MELA-AU 5 158639863 158639863 single base substitution C T upstream_gene_variant MELA-AU 5 158639885 158639885 single base substitution C T upstream_gene_variant MELA-AU 5 158640425 158640425 single base substitution C T upstream_gene_variant MELA-AU 5 158641157 158641158 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 158641169 158641169 single base substitution A T upstream_gene_variant MELA-AU 5 158641624 158641624 single base substitution A T upstream_gene_variant MELA-AU 5 158641774 158641774 single base substitution C T upstream_gene_variant ORCA-IN 5 158585683 158585683 single base substitution C A downstream_gene_variant ORCA-IN 5 158585683 158585683 single base substitution C A exon_variant ORCA-IN 5 158585683 158585683 single base substitution C A intron_variant ORCA-IN 5 158585683 158585683 single base substitution C A missense_variant A663S 1987G>T ORCA-IN 5 158585683 158585683 single base substitution C A missense_variant A677S 2029G>T ORCA-IN 5 158585683 158585683 single base substitution C A missense_variant A680S 2038G>T ORCA-IN 5 158585683 158585683 single base substitution C A missense_variant A691S 2071G>T ORCA-IN 5 158585683 158585683 single base substitution C A missense_variant A693S 2077G>T ORCA-IN 5 158607439 158607439 single base substitution G A downstream_gene_variant ORCA-IN 5 158607439 158607439 single base substitution G A intron_variant ORCA-IN 5 158633049 158633049 single base substitution C G intron_variant ORCA-IN 5 158640178 158640178 single base substitution G A upstream_gene_variant OV-AU 5 158606016 158606016 single base substitution A C downstream_gene_variant OV-AU 5 158606016 158606016 single base substitution A C intron_variant OV-AU 5 158606016 158606016 single base substitution A C upstream_gene_variant OV-AU 5 158621536 158621536 single base substitution A C intron_variant OV-AU 5 158625157 158625157 single base substitution G T intron_variant OV-AU 5 158640533 158640533 single base substitution A G upstream_gene_variant OV-US 5 158603759 158603759 single base substitution T C missense_variant I168V 502A>G OV-US 5 158603759 158603759 single base substitution T C missense_variant I182V 544A>G OV-US 5 158603759 158603759 single base substitution T C missense_variant I185V 553A>G OV-US 5 158603759 158603759 single base substitution T C missense_variant I196V 586A>G OV-US 5 158603759 158603759 single base substitution T C missense_variant I198V 592A>G OV-US 5 158603759 158603759 single base substitution T C upstream_gene_variant PACA-AU 5 158581004 158581004 single base substitution G C downstream_gene_variant PACA-AU 5 158587152 158587152 single base substitution T A downstream_gene_variant PACA-AU 5 158587152 158587152 single base substitution T A intron_variant PACA-AU 5 158601265 158601265 single base substitution C A intron_variant PACA-AU 5 158601265 158601265 single base substitution C A upstream_gene_variant PACA-AU 5 158603852 158603852 single base substitution A T missense_variant C137S 409T>A PACA-AU 5 158603852 158603852 single base substitution A T missense_variant C151S 451T>A PACA-AU 5 158603852 158603852 single base substitution A T missense_variant C154S 460T>A PACA-AU 5 158603852 158603852 single base substitution A T missense_variant C165S 493T>A PACA-AU 5 158603852 158603852 single base substitution A T missense_variant C167S 499T>A PACA-AU 5 158603852 158603852 single base substitution A T upstream_gene_variant PACA-AU 5 158606176 158606176 single base substitution A C downstream_gene_variant PACA-AU 5 158606176 158606176 single base substitution A C intron_variant PACA-AU 5 158612221 158612221 single base substitution A T intron_variant PACA-AU 5 158613276 158613276 single base substitution G A intron_variant PACA-AU 5 158616787 158616787 single base substitution C T intron_variant PACA-AU 5 158616928 158616928 single base substitution G T intron_variant PACA-AU 5 158617623 158617623 single base substitution C T intron_variant PACA-AU 5 158617825 158617825 single base substitution G A intron_variant PACA-AU 5 158619277 158619277 single base substitution G A intron_variant PACA-AU 5 158620692 158620692 single base substitution T G intron_variant PACA-AU 5 158629460 158629460 single base substitution C G intron_variant PACA-AU 5 158630604 158630604 single base substitution C T exon_variant PACA-AU 5 158630604 158630604 single base substitution C T missense_variant E22K 64G>A PACA-AU 5 158630604 158630604 single base substitution C T missense_variant E25K 73G>A PACA-AU 5 158630604 158630604 single base substitution C T missense_variant E36K 106G>A PACA-AU 5 158630604 158630604 single base substitution C T missense_variant E38K 112G>A PACA-AU 5 158630604 158630604 single base substitution C T missense_variant E8K 22G>A PACA-AU 5 158641499 158641499 single base substitution T A upstream_gene_variant PACA-CA 5 158579746 158579749 deletion of <=200bp ACAT - downstream_gene_variant PACA-CA 5 158585111 158585111 single base substitution A G 3_prime_UTR_variant PACA-CA 5 158585111 158585111 single base substitution A G downstream_gene_variant PACA-CA 5 158585111 158585111 single base substitution A G exon_variant PACA-CA 5 158585308 158585308 single base substitution C T 3_prime_UTR_variant PACA-CA 5 158585308 158585308 single base substitution C T downstream_gene_variant PACA-CA 5 158585308 158585308 single base substitution C T exon_variant PACA-CA 5 158587241 158587241 single base substitution T C downstream_gene_variant PACA-CA 5 158587241 158587241 single base substitution T C intron_variant PACA-CA 5 158587309 158587309 single base substitution G C downstream_gene_variant PACA-CA 5 158587309 158587309 single base substitution G C intron_variant PACA-CA 5 158594003 158594003 single base substitution T G intron_variant PACA-CA 5 158594003 158594003 single base substitution T G upstream_gene_variant PACA-CA 5 158595069 158595069 single base substitution G A intron_variant PACA-CA 5 158598381 158598381 single base substitution C T intron_variant PACA-CA 5 158598942 158598942 insertion of <=200bp - A intron_variant PACA-CA 5 158611558 158611558 single base substitution G A intron_variant PACA-CA 5 158613266 158613266 single base substitution C A intron_variant PACA-CA 5 158616099 158616099 single base substitution T C intron_variant PACA-CA 5 158619351 158619351 single base substitution C G intron_variant PACA-CA 5 158620587 158620587 single base substitution A T intron_variant PACA-CA 5 158623872 158623872 single base substitution C G intron_variant PACA-CA 5 158625619 158625619 single base substitution A C intron_variant PACA-CA 5 158630640 158630640 single base substitution T C 5_prime_UTR_variant PACA-CA 5 158630640 158630640 single base substitution T C exon_variant PACA-CA 5 158630640 158630640 single base substitution T C missense_variant K10E 28A>G PACA-CA 5 158630640 158630640 single base substitution T C missense_variant K13E 37A>G PACA-CA 5 158630640 158630640 single base substitution T C missense_variant K24E 70A>G PACA-CA 5 158630640 158630640 single base substitution T C missense_variant K26E 76A>G PACA-CA 5 158631207 158631207 single base substitution G C intron_variant PACA-CA 5 158633052 158633052 single base substitution T A intron_variant PACA-CA 5 158633204 158633204 single base substitution G A intron_variant PACA-CA 5 158639845 158639845 single base substitution G A upstream_gene_variant PACA-CA 5 158639854 158639854 single base substitution A C upstream_gene_variant PACA-CA 5 158641289 158641289 single base substitution G A upstream_gene_variant PAEN-AU 5 158585712 158585712 single base substitution G A downstream_gene_variant PAEN-AU 5 158585712 158585712 single base substitution G A exon_variant PAEN-AU 5 158585712 158585712 single base substitution G A intron_variant PAEN-AU 5 158585712 158585712 single base substitution G A missense_variant A653V 1958C>T PAEN-AU 5 158585712 158585712 single base substitution G A missense_variant A667V 2000C>T PAEN-AU 5 158585712 158585712 single base substitution G A missense_variant A670V 2009C>T PAEN-AU 5 158585712 158585712 single base substitution G A missense_variant A681V 2042C>T PAEN-AU 5 158585712 158585712 single base substitution G A missense_variant A683V 2048C>T PAEN-AU 5 158594262 158594262 single base substitution T C intron_variant PAEN-AU 5 158594262 158594262 single base substitution T C upstream_gene_variant PAEN-AU 5 158626432 158626432 single base substitution T G intron_variant PAEN-AU 5 158627398 158627398 single base substitution G C intron_variant PBCA-DE 5 158584609 158584610 deletion of <=200bp AC - 3_prime_UTR_variant PBCA-DE 5 158584609 158584610 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 5 158584609 158584610 deletion of <=200bp AC - exon_variant PBCA-DE 5 158592144 158592144 single base substitution A G intron_variant PBCA-DE 5 158592144 158592144 single base substitution A G upstream_gene_variant PBCA-DE 5 158595474 158595474 single base substitution T A intron_variant PBCA-DE 5 158606492 158606492 single base substitution A C downstream_gene_variant PBCA-DE 5 158606492 158606492 single base substitution A C intron_variant PBCA-DE 5 158608114 158608114 single base substitution G C downstream_gene_variant PBCA-DE 5 158608114 158608114 single base substitution G C intron_variant PBCA-DE 5 158633292 158633292 single base substitution G T intron_variant PBCA-DE 5 158640896 158640896 single base substitution G A upstream_gene_variant PBCA-DE 5 158641731 158641731 single base substitution T A upstream_gene_variant PRAD-CA 5 158613636 158613636 single base substitution A T intron_variant PRAD-CA 5 158613637 158613637 single base substitution C T intron_variant PRAD-CA 5 158625579 158625579 single base substitution C G intron_variant PRAD-CA 5 158639641 158639641 single base substitution G T upstream_gene_variant PRAD-UK 5 158597354 158597354 single base substitution T C intron_variant PRAD-UK 5 158599148 158599148 insertion of <=200bp - CCTAACCACAGAACTG intron_variant PRAD-UK 5 158601401 158601401 single base substitution C G intron_variant PRAD-UK 5 158601401 158601401 single base substitution C G upstream_gene_variant PRAD-UK 5 158605977 158605977 single base substitution A C downstream_gene_variant PRAD-UK 5 158605977 158605977 single base substitution A C intron_variant PRAD-UK 5 158605977 158605977 single base substitution A C upstream_gene_variant PRAD-UK 5 158608516 158608516 single base substitution C A downstream_gene_variant PRAD-UK 5 158608516 158608516 single base substitution C A intron_variant PRAD-UK 5 158615814 158615814 single base substitution A G intron_variant PRAD-UK 5 158630239 158630239 single base substitution C A intron_variant PRAD-US 5 158630642 158630642 deletion of <=200bp T - 5_prime_UTR_variant PRAD-US 5 158630642 158630642 deletion of <=200bp T - exon_variant PRAD-US 5 158630642 158630642 deletion of <=200bp T - frameshift_variant K12 PRAD-US 5 158630642 158630642 deletion of <=200bp T - frameshift_variant K23 PRAD-US 5 158630642 158630642 deletion of <=200bp T - frameshift_variant K25 PRAD-US 5 158630642 158630642 deletion of <=200bp T - frameshift_variant K9 READ-US 5 158601142 158601142 single base substitution C T missense_variant A216T 646G>A READ-US 5 158601142 158601142 single base substitution C T missense_variant A230T 688G>A READ-US 5 158601142 158601142 single base substitution C T missense_variant A233T 697G>A READ-US 5 158601142 158601142 single base substitution C T missense_variant A244T 730G>A READ-US 5 158601142 158601142 single base substitution C T missense_variant A246T 736G>A READ-US 5 158601142 158601142 single base substitution C T upstream_gene_variant RECA-EU 5 158604728 158604728 single base substitution G A downstream_gene_variant RECA-EU 5 158604728 158604728 single base substitution G A intron_variant RECA-EU 5 158604728 158604728 single base substitution G A upstream_gene_variant RECA-EU 5 158607190 158607190 single base substitution G C downstream_gene_variant RECA-EU 5 158607190 158607190 single base substitution G C intron_variant RECA-EU 5 158609729 158609729 single base substitution T A intron_variant RECA-EU 5 158618344 158618344 single base substitution G A intron_variant RECA-EU 5 158618457 158618457 single base substitution A G intron_variant RECA-EU 5 158618608 158618608 single base substitution G C intron_variant RECA-EU 5 158627552 158627552 single base substitution T C intron_variant RECA-EU 5 158641675 158641675 single base substitution T G upstream_gene_variant SKCA-BR 5 158579766 158579766 single base substitution C T downstream_gene_variant SKCA-BR 5 158579886 158579886 single base substitution G A downstream_gene_variant SKCA-BR 5 158580245 158580245 single base substitution G A downstream_gene_variant SKCA-BR 5 158590478 158590478 single base substitution A G intron_variant SKCA-BR 5 158590478 158590478 single base substitution A G upstream_gene_variant SKCA-BR 5 158591254 158591254 single base substitution A T intron_variant SKCA-BR 5 158591254 158591254 single base substitution A T upstream_gene_variant SKCA-BR 5 158591265 158591265 single base substitution C A intron_variant SKCA-BR 5 158591265 158591265 single base substitution C A upstream_gene_variant SKCA-BR 5 158591662 158591662 single base substitution G A intron_variant SKCA-BR 5 158591662 158591662 single base substitution G A upstream_gene_variant SKCA-BR 5 158594912 158594912 single base substitution T G intron_variant SKCA-BR 5 158594912 158594912 single base substitution T G upstream_gene_variant SKCA-BR 5 158598987 158598987 single base substitution G A intron_variant SKCA-BR 5 158600300 158600300 single base substitution T C intron_variant SKCA-BR 5 158608820 158608820 single base substitution A C downstream_gene_variant SKCA-BR 5 158608820 158608820 single base substitution A C intron_variant SKCA-BR 5 158612365 158612365 single base substitution G A intron_variant SKCA-BR 5 158618087 158618087 insertion of <=200bp - CA intron_variant SKCA-BR 5 158633698 158633698 single base substitution C T intron_variant SKCA-BR 5 158641277 158641277 single base substitution T A upstream_gene_variant SKCM-US 5 158585695 158585695 single base substitution G A downstream_gene_variant SKCM-US 5 158585695 158585695 single base substitution G A exon_variant SKCM-US 5 158585695 158585695 single base substitution G A intron_variant SKCM-US 5 158585695 158585695 single base substitution G A missense_variant P659S 1975C>T SKCM-US 5 158585695 158585695 single base substitution G A missense_variant P673S 2017C>T SKCM-US 5 158585695 158585695 single base substitution G A missense_variant P676S 2026C>T SKCM-US 5 158585695 158585695 single base substitution G A missense_variant P687S 2059C>T SKCM-US 5 158585695 158585695 single base substitution G A missense_variant P689S 2065C>T SKCM-US 5 158585993 158585993 single base substitution G A downstream_gene_variant SKCM-US 5 158585993 158585993 single base substitution G A exon_variant SKCM-US 5 158585993 158585993 single base substitution G A synonymous_variant G559G 1677C>T SKCM-US 5 158585993 158585993 single base substitution G A synonymous_variant G573G 1719C>T SKCM-US 5 158585993 158585993 single base substitution G A synonymous_variant G576G 1728C>T SKCM-US 5 158585993 158585993 single base substitution G A synonymous_variant G587G 1761C>T SKCM-US 5 158585993 158585993 single base substitution G A synonymous_variant G589G 1767C>T SKCM-US 5 158588447 158588447 single base substitution T A downstream_gene_variant SKCM-US 5 158588447 158588447 single base substitution T A exon_variant SKCM-US 5 158588447 158588447 single base substitution T A missense_variant M485L 1453A>T SKCM-US 5 158588447 158588447 single base substitution T A missense_variant M499L 1495A>T SKCM-US 5 158588447 158588447 single base substitution T A missense_variant M502L 1504A>T SKCM-US 5 158588447 158588447 single base substitution T A missense_variant M513L 1537A>T SKCM-US 5 158588447 158588447 single base substitution T A missense_variant M515L 1543A>T SKCM-US 5 158588447 158588447 single base substitution T A upstream_gene_variant SKCM-US 5 158601054 158601054 single base substitution G A missense_variant S245F 734C>T SKCM-US 5 158601054 158601054 single base substitution G A missense_variant S259F 776C>T SKCM-US 5 158601054 158601054 single base substitution G A missense_variant S262F 785C>T SKCM-US 5 158601054 158601054 single base substitution G A missense_variant S273F 818C>T SKCM-US 5 158601054 158601054 single base substitution G A missense_variant S275F 824C>T SKCM-US 5 158601054 158601054 single base substitution G A upstream_gene_variant SKCM-US 5 158601155 158601155 single base substitution T C synonymous_variant V211V 633A>G SKCM-US 5 158601155 158601155 single base substitution T C synonymous_variant V225V 675A>G SKCM-US 5 158601155 158601155 single base substitution T C synonymous_variant V228V 684A>G SKCM-US 5 158601155 158601155 single base substitution T C synonymous_variant V239V 717A>G SKCM-US 5 158601155 158601155 single base substitution T C synonymous_variant V241V 723A>G SKCM-US 5 158601155 158601155 single base substitution T C upstream_gene_variant SKCM-US 5 158603839 158603839 single base substitution A G missense_variant M141T 422T>C SKCM-US 5 158603839 158603839 single base substitution A G missense_variant M155T 464T>C SKCM-US 5 158603839 158603839 single base substitution A G missense_variant M158T 473T>C SKCM-US 5 158603839 158603839 single base substitution A G missense_variant M169T 506T>C SKCM-US 5 158603839 158603839 single base substitution A G missense_variant M171T 512T>C SKCM-US 5 158603839 158603839 single base substitution A G upstream_gene_variant SKCM-US 5 158609049 158609049 single base substitution G A exon_variant SKCM-US 5 158609049 158609049 single base substitution G A missense_variant R102W 304C>T SKCM-US 5 158609049 158609049 single base substitution G A missense_variant R116W 346C>T SKCM-US 5 158609049 158609049 single base substitution G A missense_variant R119W 355C>T SKCM-US 5 158609049 158609049 single base substitution G A missense_variant R130W 388C>T SKCM-US 5 158609049 158609049 single base substitution G A missense_variant R132W 394C>T STAD-US 5 158585955 158585955 single base substitution G A downstream_gene_variant STAD-US 5 158585955 158585955 single base substitution G A exon_variant STAD-US 5 158585955 158585955 single base substitution G A missense_variant P572L 1715C>T STAD-US 5 158585955 158585955 single base substitution G A missense_variant P586L 1757C>T STAD-US 5 158585955 158585955 single base substitution G A missense_variant P589L 1766C>T STAD-US 5 158585955 158585955 single base substitution G A missense_variant P600L 1799C>T STAD-US 5 158585955 158585955 single base substitution G A missense_variant P602L 1805C>T STAD-US 5 158586021 158586021 single base substitution G A downstream_gene_variant STAD-US 5 158586021 158586021 single base substitution G A exon_variant STAD-US 5 158586021 158586021 single base substitution G A missense_variant T550M 1649C>T STAD-US 5 158586021 158586021 single base substitution G A missense_variant T564M 1691C>T STAD-US 5 158586021 158586021 single base substitution G A missense_variant T567M 1700C>T STAD-US 5 158586021 158586021 single base substitution G A missense_variant T578M 1733C>T STAD-US 5 158586021 158586021 single base substitution G A missense_variant T580M 1739C>T STAD-US 5 158588398 158588398 single base substitution C T downstream_gene_variant STAD-US 5 158588398 158588398 single base substitution C T exon_variant STAD-US 5 158588398 158588398 single base substitution C T missense_variant R501Q 1502G>A STAD-US 5 158588398 158588398 single base substitution C T missense_variant R515Q 1544G>A STAD-US 5 158588398 158588398 single base substitution C T missense_variant R518Q 1553G>A STAD-US 5 158588398 158588398 single base substitution C T missense_variant R529Q 1586G>A STAD-US 5 158588398 158588398 single base substitution C T missense_variant R531Q 1592G>A STAD-US 5 158588398 158588398 single base substitution C T upstream_gene_variant STAD-US 5 158588590 158588590 single base substitution T G exon_variant STAD-US 5 158588590 158588590 single base substitution T G missense_variant E437A 1310A>C STAD-US 5 158588590 158588590 single base substitution T G missense_variant E451A 1352A>C STAD-US 5 158588590 158588590 single base substitution T G missense_variant E454A 1361A>C STAD-US 5 158588590 158588590 single base substitution T G missense_variant E465A 1394A>C STAD-US 5 158588590 158588590 single base substitution T G missense_variant E467A 1400A>C STAD-US 5 158588590 158588590 single base substitution T G upstream_gene_variant STAD-US 5 158596042 158596042 single base substitution C T exon_variant STAD-US 5 158596042 158596042 single base substitution C T synonymous_variant T320T 960G>A STAD-US 5 158596042 158596042 single base substitution C T synonymous_variant T334T 1002G>A STAD-US 5 158596042 158596042 single base substitution C T synonymous_variant T337T 1011G>A STAD-US 5 158596042 158596042 single base substitution C T synonymous_variant T348T 1044G>A STAD-US 5 158596042 158596042 single base substitution C T synonymous_variant T350T 1050G>A STAD-US 5 158596066 158596066 deletion of <=200bp A - splice_region_variant STAD-US 5 158596721 158596721 single base substitution A G exon_variant STAD-US 5 158596721 158596721 single base substitution A G missense_variant Y302H 904T>C STAD-US 5 158596721 158596721 single base substitution A G missense_variant Y316H 946T>C STAD-US 5 158596721 158596721 single base substitution A G missense_variant Y319H 955T>C STAD-US 5 158596721 158596721 single base substitution A G missense_variant Y330H 988T>C STAD-US 5 158596721 158596721 single base substitution A G missense_variant Y332H 994T>C STAD-US 5 158601022 158601022 single base substitution G A exon_variant STAD-US 5 158601022 158601022 single base substitution G A missense_variant R256C 766C>T STAD-US 5 158601022 158601022 single base substitution G A missense_variant R270C 808C>T STAD-US 5 158601022 158601022 single base substitution G A missense_variant R273C 817C>T STAD-US 5 158601022 158601022 single base substitution G A missense_variant R284C 850C>T STAD-US 5 158601022 158601022 single base substitution G A missense_variant R286C 856C>T STAD-US 5 158601053 158601053 single base substitution G A synonymous_variant S245S 735C>T STAD-US 5 158601053 158601053 single base substitution G A synonymous_variant S259S 777C>T STAD-US 5 158601053 158601053 single base substitution G A synonymous_variant S262S 786C>T STAD-US 5 158601053 158601053 single base substitution G A synonymous_variant S273S 819C>T STAD-US 5 158601053 158601053 single base substitution G A synonymous_variant S275S 825C>T STAD-US 5 158601053 158601053 single base substitution G A upstream_gene_variant STAD-US 5 158603680 158603680 single base substitution G T missense_variant P194H 581C>A STAD-US 5 158603680 158603680 single base substitution G T missense_variant P208H 623C>A STAD-US 5 158603680 158603680 single base substitution G T missense_variant P211H 632C>A STAD-US 5 158603680 158603680 single base substitution G T missense_variant P222H 665C>A STAD-US 5 158603680 158603680 single base substitution G T missense_variant P224H 671C>A STAD-US 5 158603680 158603680 single base substitution G T upstream_gene_variant STAD-US 5 158621757 158621757 single base substitution G T exon_variant STAD-US 5 158621757 158621757 single base substitution G T missense_variant A101D 302C>A STAD-US 5 158621757 158621757 single base substitution G T missense_variant A104D 311C>A STAD-US 5 158621757 158621757 single base substitution G T missense_variant A115D 344C>A STAD-US 5 158621757 158621757 single base substitution G T missense_variant A117D 350C>A STAD-US 5 158621757 158621757 single base substitution G T missense_variant A87D 260C>A STAD-US 5 158630531 158630531 single base substitution C G exon_variant STAD-US 5 158630531 158630531 single base substitution C G missense_variant S32T 95G>C STAD-US 5 158630531 158630531 single base substitution C G missense_variant S46T 137G>C STAD-US 5 158630531 158630531 single base substitution C G missense_variant S49T 146G>C STAD-US 5 158630531 158630531 single base substitution C G missense_variant S60T 179G>C STAD-US 5 158630531 158630531 single base substitution C G missense_variant S62T 185G>C THCA-SA 5 158621792 158621792 single base substitution C T exon_variant THCA-SA 5 158621792 158621792 single base substitution C T synonymous_variant Q103Q 309G>A THCA-SA 5 158621792 158621792 single base substitution C T synonymous_variant Q105Q 315G>A THCA-SA 5 158621792 158621792 single base substitution C T synonymous_variant Q75Q 225G>A THCA-SA 5 158621792 158621792 single base substitution C T synonymous_variant Q89Q 267G>A THCA-SA 5 158621792 158621792 single base substitution C T synonymous_variant Q92Q 276G>A UCEC-US 5 158585701 158585701 single base substitution C T downstream_gene_variant UCEC-US 5 158585701 158585701 single base substitution C T exon_variant UCEC-US 5 158585701 158585701 single base substitution C T intron_variant UCEC-US 5 158585701 158585701 single base substitution C T missense_variant A657T 1969G>A UCEC-US 5 158585701 158585701 single base substitution C T missense_variant A671T 2011G>A UCEC-US 5 158585701 158585701 single base substitution C T missense_variant A674T 2020G>A UCEC-US 5 158585701 158585701 single base substitution C T missense_variant A685T 2053G>A UCEC-US 5 158585701 158585701 single base substitution C T missense_variant A687T 2059G>A UCEC-US 5 158585745 158585745 single base substitution C A downstream_gene_variant UCEC-US 5 158585745 158585745 single base substitution C A exon_variant UCEC-US 5 158585745 158585745 single base substitution C A intron_variant UCEC-US 5 158585745 158585745 single base substitution C A missense_variant G642V 1925G>T UCEC-US 5 158585745 158585745 single base substitution C A missense_variant G656V 1967G>T UCEC-US 5 158585745 158585745 single base substitution C A missense_variant G659V 1976G>T UCEC-US 5 158585745 158585745 single base substitution C A missense_variant G670V 2009G>T UCEC-US 5 158585745 158585745 single base substitution C A missense_variant G672V 2015G>T UCEC-US 5 158589972 158589972 single base substitution T C exon_variant UCEC-US 5 158589972 158589972 single base substitution T C missense_variant I413V 1237A>G UCEC-US 5 158589972 158589972 single base substitution T C missense_variant I427V 1279A>G UCEC-US 5 158589972 158589972 single base substitution T C missense_variant I430V 1288A>G UCEC-US 5 158589972 158589972 single base substitution T C missense_variant I441V 1321A>G UCEC-US 5 158589972 158589972 single base substitution T C missense_variant I443V 1327A>G UCEC-US 5 158589972 158589972 single base substitution T C upstream_gene_variant UCEC-US 5 158601111 158601111 single base substitution A G missense_variant V226A 677T>C UCEC-US 5 158601111 158601111 single base substitution A G missense_variant V240A 719T>C UCEC-US 5 158601111 158601111 single base substitution A G missense_variant V243A 728T>C UCEC-US 5 158601111 158601111 single base substitution A G missense_variant V254A 761T>C UCEC-US 5 158601111 158601111 single base substitution A G missense_variant V256A 767T>C UCEC-US 5 158601111 158601111 single base substitution A G upstream_gene_variant UCEC-US 5 158601142 158601142 single base substitution C T missense_variant A216T 646G>A UCEC-US 5 158601142 158601142 single base substitution C T missense_variant A230T 688G>A UCEC-US 5 158601142 158601142 single base substitution C T missense_variant A233T 697G>A UCEC-US 5 158601142 158601142 single base substitution C T missense_variant A244T 730G>A UCEC-US 5 158601142 158601142 single base substitution C T missense_variant A246T 736G>A UCEC-US 5 158601142 158601142 single base substitution C T upstream_gene_variant UCEC-US 5 158603671 158603671 single base substitution A C missense_variant L197R 590T>G UCEC-US 5 158603671 158603671 single base substitution A C missense_variant L211R 632T>G UCEC-US 5 158603671 158603671 single base substitution A C missense_variant L214R 641T>G UCEC-US 5 158603671 158603671 single base substitution A C missense_variant L225R 674T>G UCEC-US 5 158603671 158603671 single base substitution A C missense_variant L227R 680T>G UCEC-US 5 158603671 158603671 single base substitution A C upstream_gene_variant UCEC-US 5 158630642 158630642 single base substitution T C 5_prime_UTR_variant UCEC-US 5 158630642 158630642 single base substitution T C exon_variant UCEC-US 5 158630642 158630642 single base substitution T C missense_variant K12R 35A>G UCEC-US 5 158630642 158630642 single base substitution T C missense_variant K23R 68A>G UCEC-US 5 158630642 158630642 single base substitution T C missense_variant K25R 74A>G UCEC-US 5 158630642 158630642 single base substitution T C missense_variant K9R 26A>G UCEC-US 5 158634775 158634775 single base substitution T A intron_variant UCEC-US 5 158634775 158634775 single base substitution T A missense_variant L11F 33A>T UCEC-US 5 158634775 158634775 single base substitution T A upstream_gene_variant UCEC-US 5 158634776 158634776 single base substitution A C intron_variant UCEC-US 5 158634776 158634776 single base substitution A C stop_gained L11* 32T>G UCEC-US 5 158634776 158634776 single base substitution A C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AM-5820-01 COSM3761070 c.777C>T p.F259F Substitution - coding silent 5:159174087-159174087 - LS174T COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - HN_62699 COSM125892 c.81C>A p.N27K Substitution - Missense 5:159203621-159203621 - TCGA-CD-A4MI-01 COSM3853264 c.850C>T p.R284C Substitution - Missense 5:159174014-159174014 - TCGA-39-5022-01 COSM736987 c.2069C>T p.S690L Substitution - Missense 5:159158677-159158677 - pfg181T COSM4748049 c.69_71delGAA p.K26delK Deletion - In frame 5:159203631-159203633 - TCGA-BR-A4QM-01 COSM3853268 c.179G>C p.S60T Substitution - Missense 5:159203523-159203523 - CHC442T COSM5419683 c.1938A>G p.P646P Substitution - coding silent 5:159158808-159158808 - TCGA-G4-6297-01 COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - HCT116 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - CRC-03T COSM5451816 c.1885C>T p.Q629* Substitution - Nonsense 5:159158861-159158861 - C008 COSM1672089 c.448C>T p.R150W Substitution - Missense 5:159181981-159181981 - 217 COSM3827575 c.716T>C p.V239A Substitution - Missense 5:159174148-159174148 - ESO01T COSM1173105 c.709G>T p.V237L Substitution - Missense 5:159174155-159174155 - 3N07-VS-3T07 COSM4978922 c.150G>T p.L50L Substitution - coding silent 5:159203552-159203552 - 3_PRE-TREATMENT COSM1723690 c.400G>C p.E134Q Substitution - Missense 5:159182029-159182029 - TCGA-AC-A23H-01 COSM3827574 c.808C>T p.Q270* Substitution - Nonsense 5:159174056-159174056 - TCGA-AZ-4615-01 COSM1642665 c.1023-3delT p.? Unknown 5:159169058-159169058 - TCGA-B5-A11I-01 COSM736984 c.506T>C p.M169T Substitution - Missense 5:159176831-159176831 - CSCC-52-T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - PT33 COSM5908567 c.574C>T p.P192S Substitution - Missense 5:159176763-159176763 - CX-1 COSM4621693 c.2043G>T p.A681A Substitution - coding silent 5:159158703-159158703 - sysucc-1517T COSM125892 c.81C>A p.N27K Substitution - Missense 5:159203621-159203621 - 8051712 COSM3784754 c.2042C>T p.A681V Substitution - Missense 5:159158704-159158704 - TCGA-BS-A0UF-01 COSM1065115 c.1321A>G p.I441V Substitution - Missense 5:159162964-159162964 - HCC2998 COSM4631789 c.67A>C p.K23Q Substitution - Missense 5:159203635-159203635 - TCGA-B5-A11E-01 COSM1065116 c.761T>C p.V254A Substitution - Missense 5:159174103-159174103 - P04-1790 COSM247059 c.435T>A p.P145P Substitution - coding silent 5:159181994-159181994 - PD22360a COSM5796063 c.457A>G p.T153A Substitution - Missense 5:159181972-159181972 - 2171660 COSM1735801 c.1354-4_1354-3insT p.? Unknown 5:159161625-159161626 - TCGA-E9-A1R7-01 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - BN23 COSM1619959 c.1052T>G p.I351S Substitution - Missense 5:159169026-159169026 - TCGA-66-2793-01 COSM736986 c.1758A>C p.A586A Substitution - coding silent 5:159158988-159158988 - TCGA-AD-6964-01 COSM1435645 c.338_339insT p.L113fs*20 Insertion - Frameshift 5:159194754-159194755 - UM-SCC-47 COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - TCGA-CM-4743-01 COSM1567805 c.1132G>A p.V378I Substitution - Missense 5:159168946-159168946 - pfg181T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - TCGA-EE-A2GO-06 COSM3613375 c.818C>T p.S273F Substitution - Missense 5:159174046-159174046 - TCGA-DM-A1HA-01 COSM1435632 c.1710G>A p.Q570Q Substitution - coding silent 5:159161266-159161266 - T3724 COSM4722002 c.298T>C p.L100L Substitution - coding silent 5:159194795-159194795 - TCGA-BR-6452-01 COSM3853263 c.988T>C p.Y330H Substitution - Missense 5:159169713-159169713 - PS-286-5D COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - PT18_1 COSM4425776 c.1354-4delT p.? Unknown 5:159161626-159161626 - ESCC_80 COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - ESCC_80 COSM5635803 c.81_82insA p.N28fs*43 Insertion - Frameshift 5:159203620-159203621 - TCGA-AA-3663-01 COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - ESCC_80 COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - TCGA-AM-5820-01 COSM3761071 c.173A>G p.D58G Substitution - Missense 5:159203529-159203529 - TCGA-33-4566-01 COSM736982 c.269G>C p.G90A Substitution - Missense 5:159194824-159194824 - T3668 COSM4722001 c.1391T>C p.V464A Substitution - Missense 5:159161585-159161585 - T16 COSM5617913 c.352C>T p.L118F Substitution - Missense 5:159194741-159194741 - TCGA-22-4591-01 COSM736985 c.1582C>G p.L528V Substitution - Missense 5:159161394-159161394 - Gp5D COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - LIM2405 COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - TCGA-34-5240-01 COSM736984 c.506T>C p.M169T Substitution - Missense 5:159176831-159176831 - RK216_C01 COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - RKO COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - TCGA-FW-A3R5-06 COSM3919511 c.388C>T p.R130W Substitution - Missense 5:159182041-159182041 - TCGA-AZ-6598-01 COSM1435644 c.347T>C p.L116P Substitution - Missense 5:159194746-159194746 - TCGA-BR-8382-01 COSM3853259 c.1733C>T p.T578M Substitution - Missense 5:159159013-159159013 - OSCC-GB_01000111 COSM4884273 c.2071G>T p.A691S Substitution - Missense 5:159158675-159158675 - TCGA-B0-5113-01 COSM482441 c.569T>G p.L190R Substitution - Missense 5:159176768-159176768 - TCGA-D5-6922-01 COSM94327 c.647G>A p.G216E Substitution - Missense 5:159176690-159176690 - 3006_T COSM3947205 c.1818G>A p.L606L Substitution - coding silent 5:159158928-159158928 - sysucc-311T COSM5466357 c.2026G>T p.E676* Substitution - Nonsense 5:159158720-159158720 - HCC4T COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - YUKAT COSM5402915 c.247G>A p.A83T Substitution - Missense 5:159203455-159203455 - TCGA-12-0707 COSM2154539 c.517C>G p.Q173E Substitution - Missense 5:159176820-159176820 - LC_S45 COSM1186893 c.592A>G p.I198V Substitution - Missense 5:159176745-159176745 - 112313 COSM94327 c.647G>A p.G216E Substitution - Missense 5:159176690-159176690 - GC_364T-GC_364N COSM125892 c.81C>A p.N27K Substitution - Missense 5:159203621-159203621 - sysucc-783T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - TCGA-BC-A10Z-01 COSM4936185 c.579G>T p.L193F Substitution - Missense 5:159176758-159176758 - TCGA-D7-6822-01 COSM3853261 c.1394A>C p.E465A Substitution - Missense 5:159161582-159161582 - TCGA-IR-A3LC-01 COSM4832196 c.1893C>T p.V631V Substitution - coding silent 5:159158853-159158853 - TCGA-FS-A1Z3-06 COSM3613372 c.2059C>T p.P687S Substitution - Missense 5:159158687-159158687 - 3676_T COSM3947206 c.706-5T>C p.? Unknown 5:159174163-159174163 - P157 COSM1735801 c.1354-4_1354-3insT p.? Unknown 5:159161625-159161626 - sysucc-834T COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - CSCC-60-T COSM4572806 c.866T>C p.F289S Substitution - Missense 5:159173998-159173998 - TCGA-BC-A10Z-01 COSM4936241 c.580G>T p.E194* Substitution - Nonsense 5:159176757-159176757 - Pat_41_B COSM5868033 c.172G>A p.D58N Substitution - Missense 5:159203530-159203530 - LS180 COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - pfg181T COSM4765988 c.339_340insT p.T114fs*19 Insertion - Frameshift 5:159194753-159194754 - TCGA-DM-A0XF-01 COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - TCGA-AN-A046-01 COSM3827575 c.716T>C p.V239A Substitution - Missense 5:159174148-159174148 - TCGA-D1-A16J-01 COSM736984 c.506T>C p.M169T Substitution - Missense 5:159176831-159176831 - I2L-P7-Tumor-Organoid COSM1642665 c.1023-3delT p.? Unknown 5:159169058-159169058 - PCSI_0120_Pa_P COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - TCGA-AG-A002-01 COSM263366 c.1850C>T p.T617I Substitution - Missense 5:159158896-159158896 - 43 COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - SCC-9 COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - KM12 COSM1672089 c.448C>T p.R150W Substitution - Missense 5:159181981-159181981 - TCGA-EE-A20B-06 COSM3613376 c.717A>G p.V239V Substitution - coding silent 5:159174147-159174147 - SW48 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - sysucc-783T COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - TCGA-CA-6718-01 COSM1435651 c.8G>A p.R3K Substitution - Missense 5:159207792-159207792 - sysucc-1163T COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - HX24T COSM3661661 c.1100C>T p.A367V Substitution - Missense 5:159168978-159168978 - TCGA-13-0791-01 COSM76259 c.586A>G p.I196V Substitution - Missense 5:159176751-159176751 - C135 COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - TCGA-A6-5665-01 COSM1435648 c.71A>G p.K24R Substitution - Missense 5:159203631-159203631 - PR-00-1165 COSM247058 c.1126A>G p.I376V Substitution - Missense 5:159168952-159168952 - YUGASP COSM1696667 c.461C>T p.A154V Substitution - Missense 5:159181968-159181968 - YUMOBER COSM5402913 c.1296C>T p.F432F Substitution - coding silent 5:159162989-159162989 - CSCC-45-T COSM4569267 c.1631T>A p.V544E Substitution - Missense 5:159161345-159161345 - TCGA-HT-A614-01 COSM3975364 c.761T>G p.V254G Substitution - Missense 5:159174103-159174103 - 56518 COSM1582931 c.946G>T p.A316S Substitution - Missense 5:159169755-159169755 - TCGA-AA-3510-01 COSM1435636 c.1634A>C p.N545T Substitution - Missense 5:159161342-159161342 - TCGA-F5-6814-01 COSM1065117 c.730G>A p.A244T Substitution - Missense 5:159174134-159174134 - XHDG20 COSM1435651 c.8G>A p.R3K Substitution - Missense 5:159207792-159207792 - TCGA-D7-A4YY-01 COSM3853265 c.819C>T p.S273S Substitution - coding silent 5:159174045-159174045 - RK284_C01 COSM4943308 c.1495G>A p.A499T Substitution - Missense 5:159161481-159161481 - STC297 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - TCGA-BG-A0YV-01 COSM1065121 c.32T>G p.L11* Substitution - Nonsense 5:159207768-159207768 - TCGA-AY-6197-01 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - C135 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - BN19T COSM1619960 c.444G>A p.M148I Substitution - Missense 5:159181985-159181985 - TCGA-13-1409-01 COSM80458 c.1701C>T p.I567I Substitution - coding silent 5:159161275-159161275 - TCGA-IR-A3LL-01 COSM4849770 c.930C>G p.F310L Substitution - Missense 5:159169771-159169771 - ESO-1594 COSM1264345 c.1619G>A p.R540H Substitution - Missense 5:159161357-159161357 - YUPAER COSM5402914 c.375C>T p.S125S Substitution - coding silent 5:159194718-159194718 - Gp2D COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - 8044820 COSM1158077 c.493T>A p.C165S Substitution - Missense 5:159176844-159176844 - SCC-15 COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - WSU-HN13 COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - KM12 COSM1672089 c.448C>T p.R150W Substitution - Missense 5:159181981-159181981 - WSU-HN12 COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - SNU-C4 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - TCGA-CG-4305-01 COSM3853260 c.1586G>A p.R529Q Substitution - Missense 5:159161390-159161390 - TCGA-G4-6302-01 COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - TCGA-BG-A0MQ-01 COSM736984 c.506T>C p.M169T Substitution - Missense 5:159176831-159176831 - TCGA-DA-A1HY-06 COSM3613373 c.1761C>T p.G587G Substitution - coding silent 5:159158985-159158985 - HCC154T COSM5611700 c.541A>G p.M181V Substitution - Missense 5:159176796-159176796 - 104961 COSM94326 c.772C>G p.L258V Substitution - Missense 5:159174092-159174092 - 8012341 COSM3393388 c.106G>A p.E36K Substitution - Missense 5:159203596-159203596 - sysucc-880T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - pfg008T COSM4748050 c.69_70delGA p.N27fs*43 Deletion - Frameshift 5:159203632-159203633 - EGC15 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - TCGA-DM-A1DB-01 COSM1435637 c.1557C>T p.F519F Substitution - coding silent 5:159161419-159161419 - CRC-03T COSM5451817 c.1858G>T p.V620F Substitution - Missense 5:159158888-159158888 - ACINAR13 COSM1733492 c.190C>T p.Q64* Substitution - Nonsense 5:159203512-159203512 - PT46 COSM4425776 c.1354-4delT p.? Unknown 5:159161626-159161626 - 225 COSM4425776 c.1354-4delT p.? Unknown 5:159161626-159161626 - XHDG33 COSM1435649 c.70A>G p.K24E Substitution - Missense 5:159203632-159203632 - TCGA-BG-A0MG-01 COSM1065113 c.2053G>A p.A685T Substitution - Missense 5:159158693-159158693 - 3N50-VS-3T50 COSM1065120 c.33A>T p.L11F Substitution - Missense 5:159207767-159207767 - Pat_53_A COSM3247140 c.338delT p.L113fs*1 Deletion - Frameshift 5:159194755-159194755 - 528 COSM5611700 c.541A>G p.M181V Substitution - Missense 5:159176796-159176796 - sysucc-1163T COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - TCGA-BR-8680-01 COSM3853262 c.1044G>A p.T348T Substitution - coding silent 5:159169034-159169034 - LOVO COSM1435647 c.79_80delAA p.N27fs*43 Deletion - Frameshift 5:159203622-159203623 - pfg017T COSM1642665 c.1023-3delT p.? Unknown 5:159169058-159169058 - LS411 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - TCGA-D1-A0ZS-01 COSM1065114 c.2009G>T p.G670V Substitution - Missense 5:159158737-159158737 - TCGA-A2-A3Y0-01 COSM3827576 c.110C>T p.A37V Substitution - Missense 5:159203592-159203592 - TCGA-B5-A0JY-01 COSM1065118 c.674T>G p.L225R Substitution - Missense 5:159176663-159176663 - 394 COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - GC_325T-GC_325N COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - HCA7 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - 2171666 COSM1735801 c.1354-4_1354-3insT p.? Unknown 5:159161625-159161626 - Pat_06_A COSM5868032 c.584delC p.T195fs*10 Deletion - Frameshift 5:159176753-159176753 - YUGOE COSM1696666 c.737G>A p.G246E Substitution - Missense 5:159174127-159174127 - LIM2551 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - TCGA-EE-A2GC-06 COSM3613374 c.1537A>T p.M513L Substitution - Missense 5:159161439-159161439 - PA285 COSM1163393 c.811A>T p.I271F Substitution - Missense 5:159174053-159174053 - BN19 COSM1619960 c.444G>A p.M148I Substitution - Missense 5:159181985-159181985 - ESCC-002T COSM3941224 c.594C>G p.I198M Substitution - Missense 5:159176743-159176743 - sysucc-834T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - SNU-175 COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - STC246 COSM5060888 c.525G>A p.W175* Substitution - Nonsense 5:159176812-159176812 - PDA_052 COSM5000767 c.882T>A p.S294R Substitution - Missense 5:159169819-159169819 - PTC_279 COSM5959590 c.309G>A p.Q103Q Substitution - coding silent 5:159194784-159194784 - SE2 COSM1165763 c.1585C>T p.R529W Substitution - Missense 5:159161391-159161391 - pfg008T COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - TCGA-AX-A060-01 COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - TCGA-BP-5170-01 COSM482440 c.658T>C p.L220L Substitution - coding silent 5:159176679-159176679 - 5853_CLM COSM5756619 c.1022G>A p.R341Q Substitution - Missense 5:159169679-159169679 - TCGA-66-2754-01 COSM736983 c.351C>T p.L117L Substitution - coding silent 5:159194742-159194742 - PACA37 COSM1158077 c.493T>A p.C165S Substitution - Missense 5:159176844-159176844 - CCK81 COSM4611460 c.78_80delAAA p.K26delK Deletion - In frame 5:159203622-159203624 - TCGA-HT-7470-01 COSM3975365 c.376A>G p.R126G Substitution - Missense 5:159194717-159194717 - 6115234 COSM5563590 c.1086G>T p.Q362H Substitution - Missense 5:159168992-159168992 - TCGA-G4-6628-01 COSM1435640 c.1099G>C p.A367P Substitution - Missense 5:159168979-159168979 - TCGA-EQ-5647-01 COSM3853258 c.1799C>T p.P600L Substitution - Missense 5:159158947-159158947 - 96T COSM106890 c.1576G>A p.V526M Substitution - Missense 5:159161400-159161400 - LC_C18 COSM1186894 c.556G>T p.A186S Substitution - Missense 5:159176781-159176781 - 536 COSM5611713 c.1348C>G p.L450V Substitution - Missense 5:159162937-159162937 - sysucc-834T COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - TCGA-BR-4256-01 COSM3853267 c.344C>A p.A115D Substitution - Missense 5:159194749-159194749 - CSCC-31-T COSM4468964 c.1566C>T p.S522S Substitution - coding silent 5:159161410-159161410 - HCC2998 COSM3247143 c.233A>G p.Q78R Substitution - Missense 5:159203469-159203469 - TCGA-RC-A7SK-01 COSM1264345 c.1619G>A p.R540H Substitution - Missense 5:159161357-159161357 - TCGA-BG-A0YV-01 COSM1065120 c.33A>T p.L11F Substitution - Missense 5:159207767-159207767 - TCGA-ER-A19P-06 COSM736984 c.506T>C p.M169T Substitution - Missense 5:159176831-159176831 - TCGA-BS-A0UV-01 COSM1065117 c.730G>A p.A244T Substitution - Missense 5:159174134-159174134 - 8051712 COSM3784754 c.2042C>T p.A681V Substitution - Missense 5:159158704-159158704 - HCC4T COSM1435650 c.68delA p.K23fs*17 Deletion - Frameshift 5:159203634-159203634 - 587316 COSM1065119 c.68A>G p.K23R Substitution - Missense 5:159203634-159203634 - HCC114T COSM4621693 c.2043G>T p.A681A Substitution - coding silent 5:159158703-159158703 - TCGA-CD-A4MG-01 COSM3853266 c.665C>A p.P222H Substitution - Missense 5:159176672-159176672 - sysucc-783T COSM3723389 c.69G>A p.K23K Substitution - coding silent 5:159203633-159203633 - T16 COSM5344899 c.137C>A p.P46Q Substitution - Missense 5:159203565-159203565 - BN23T COSM1619959 c.1052T>G p.I351S Substitution - Missense 5:159169026-159169026 - TCGA-AZ-6601-01 COSM1435641 c.652A>G p.N218D Substitution - Missense 5:159176685-159176685 - SNU-C2B COSM1435646 c.80delA p.N27fs*13 Deletion - Frameshift 5:159203622-159203622 - RK030_C01 COSM3702762 c.1706A>G p.Y569C Substitution - Missense 5:159161270-159161270 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743548 5q33.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.51+2085T>G 5 158634776 UCEC A C Missense p.F377C c.1130T>G 5 158595962 LUAD A C Missense p.L192R c.575T>G 5 158603776 RCCC A G IntronicSNV . c.51+2089T>C 5 158634772 MM A G Missense p.M171T c.512T>C 5 158603839 CM A G Missense p.M171T c.512T>C 5 158603839 LUSC A G Synonymous p.L222L c.664T>C 5 158603687 RCCC A - IntronicDeletion . c.1029-3delT 5 158596066 STAD C A Missense p.A32S c.94G>T 5 158630622 HNSC C A Missense p.G672V c.2015G>T 5 158585745 UCEC CT GG Missense p.V474L c.1419_1420delinsCC 5 158588570 CM C T Missense p.A687T c.2059G>A 5 158585701 UCEC C T Missense p.R531Q c.1592G>A 5 158588398 STAD C T Missense p.R542H c.1625G>A 5 158588365 ESCA C T Missense p.S583N c.1748G>A 5 158586012 CM G A Missense p.H681Y c.2041C>T 5 158585719 HNSC G A Missense p.P602L c.1805C>T 5 158585955 STAD G A Missense p.P689S c.2065C>T 5 158585695 CM G A Missense p.S275F c.824C>T 5 158601054 CM G A Missense p.S692L c.2075C>T 5 158585685 LUSC G A Missense p.T450I c.1349C>T 5 158589950 CM G A Synonymous p.G589G c.1767C>T 5 158585993 CM G A Synonymous p.I375I c.1125C>T 5 158595967 CM G A Synonymous p.I569I c.1707C>T 5 158588283 OV G A Synonymous p.L119L c.357C>T 5 158621750 LUSC G C Missense p.L530V c.1588C>G 5 158588402 LUSC - GGACATT Frameshift p.L251Mfs*39 c.749_750insAATGTCC 5 158601128 RCCC G T Missense p.A117D c.350C>A 5 158621757 STAD G T Missense p.H563Q c.1689C>A 5 158588301 HNSC G T Missense p.N29K c.87C>A 5 158630629 HNSC T A IntronicSNV . c.51+2086A>T 5 158634775 UCEC T A Missense p.M515L c.1543A>T 5 158588447 CM T C 3-UTRSNV . c.2079+50A>G 5 158585631 STAD T C Missense p.I198V c.592A>G 5 158603759 OV T C Missense p.K25R c.74A>G 5 158630642 UCEC T C Missense p.R128G c.382A>G 5 158621725 LGG T C Synonymous p.V241V c.723A>G 5 158601155 CM T - Frameshift p.K25Rfs*17 c.74delA 5 158630642 PRAD T G Missense p.E467A c.1400A>C 5 158588590 STAD T G Synonymous p.A588A c.1764A>C 5 158585996 LUSC