Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 5 64890416 64890416 + Nonsense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:64890416C>A c.1477G>T c.(1477-1479)Gaa>Taa p.E493* BLCA 5 64892900 64892900 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr5:64892900G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F BLCA 5 64892995 64892995 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr5:64892995G>C c.1192C>G c.(1192-1194)Cac>Gac p.H398D BLCA 5 64900773 64900773 + Missense_Mutation SNP G G T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr5:64900773G>T c.1144C>A c.(1144-1146)Cag>Aag p.Q382K BLCA 5 64906836 64906836 + Missense_Mutation SNP C C A TCGA-CU-A0YO-01A-11D-A10S-08 TCGA-CU-A0YO-10A-01D-A10S-08 g.chr5:64906836C>A c.680G>T c.(679-681)cGa>cTa p.R227L BLCA 5 64914022 64914022 + Missense_Mutation SNP G G C TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr5:64914022G>C c.142C>G c.(142-144)Ctt>Gtt p.L48V BRCA 5 64892251 64892251 + Missense_Mutation SNP G G C TCGA-E2-A159-01A-11D-A10Y-09 TCGA-E2-A159-10A-01D-A110-09 g.chr5:64892251G>C c.1417C>G c.(1417-1419)Caa>Gaa p.Q473E BRCA 5 64892258 64892258 + Silent SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:64892258G>C c.1410C>G c.(1408-1410)ctC>ctG p.L470L BRCA 5 64892900 64892900 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr5:64892900G>A c.1287C>T c.(1285-1287)ttC>ttT p.F429F BRCA 5 64905155 64905155 + Missense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chr5:64905155C>A c.959G>T c.(958-960)tGg>tTg p.W320L BRCA 5 64907435 64907435 + Missense_Mutation SNP G G C TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 g.chr5:64907435G>C c.640C>G c.(640-642)Cac>Gac p.H214D BRCA 5 64913932 64913932 + Missense_Mutation SNP C C G TCGA-AN-A0AR-01A-11W-A019-09 TCGA-AN-A0AR-10A-01W-A021-09 g.chr5:64913932C>G c.232G>C c.(232-234)Gta>Cta p.V78L CESC 5 64890377 64890377 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr5:64890377C>A c.1516G>T c.(1516-1518)Gct>Tct p.A506S COAD 5 64892344 64892344 + Missense_Mutation SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr5:64892344T>C c.1324A>G c.(1324-1326)Act>Gct p.T442A COAD 5 64892344 64892344 + Missense_Mutation SNP T T C TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr5:64892344T>C c.1324A>G c.(1324-1326)Act>Gct p.T442A COAD 5 64893000 64893000 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64893000C>T c.1187G>A c.(1186-1188)cGa>cAa p.R396Q COAD 5 64905202 64905202 + Silent SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr5:64905202T>C c.912A>G c.(910-912)gaA>gaG p.E304E COAD 5 64905202 64905202 + Silent SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr5:64905202T>C c.912A>G c.(910-912)gaA>gaG p.E304E COAD 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COAD 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COAD 5 64907523 64907523 + Silent SNP A A G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr5:64907523A>G c.552T>C c.(550-552)caT>caC p.H184H COAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COAD 5 64907525 64907525 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:64907525G>A c.550C>T c.(550-552)Cat>Tat p.H184Y COAD 5 64907525 64907525 + Missense_Mutation SNP G G T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr5:64907525G>T c.550C>A c.(550-552)Cat>Aat p.H184N COAD 5 64909988 64909988 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:64909988T>C c.303A>G c.(301-303)cgA>cgG p.R101R COAD 5 64909988 64909988 + Silent SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr5:64909988T>C c.303A>G c.(301-303)cgA>cgG p.R101R COAD 5 64909989 64909989 + Missense_Mutation SNP C C A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:64909989C>A c.302G>T c.(301-303)cGa>cTa p.R101L COAD 5 64910016 64910016 + Missense_Mutation SNP T T A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:64910016T>A c.275A>T c.(274-276)aAt>aTt p.N92I COAD 5 64910017 64910017 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64910017T>G c.274A>C c.(274-276)Aat>Cat p.N92H COADREAD 5 64887748 64887748 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64887748C>A c.1573G>T c.(1573-1575)Gaa>Taa p.E525* COADREAD 5 64892344 64892344 + Missense_Mutation SNP T T C TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chr5:64892344T>C c.1324A>G c.(1324-1326)Act>Gct p.T442A COADREAD 5 64892344 64892344 + Missense_Mutation SNP T T C TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr5:64892344T>C c.1324A>G c.(1324-1326)Act>Gct p.T442A COADREAD 5 64893000 64893000 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64893000C>T c.1187G>A c.(1186-1188)cGa>cAa p.R396Q COADREAD 5 64893000 64893000 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64893000C>T c.1187G>A c.(1186-1188)cGa>cAa p.R396Q COADREAD 5 64905202 64905202 + Silent SNP T T C TCGA-CM-5864-01A-01D-1650-10 TCGA-CM-5864-10A-01D-1650-10 g.chr5:64905202T>C c.912A>G c.(910-912)gaA>gaG p.E304E COADREAD 5 64905202 64905202 + Silent SNP T T C TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr5:64905202T>C c.912A>G c.(910-912)gaA>gaG p.E304E COADREAD 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COADREAD 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COADREAD 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q COADREAD 5 64907523 64907523 + Silent SNP A A G TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr5:64907523A>G c.552T>C c.(550-552)caT>caC p.H184H COADREAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COADREAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COADREAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COADREAD 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R COADREAD 5 64907525 64907525 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr5:64907525G>A c.550C>T c.(550-552)Cat>Tat p.H184Y COADREAD 5 64907525 64907525 + Missense_Mutation SNP G G T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr5:64907525G>T c.550C>A c.(550-552)Cat>Aat p.H184N COADREAD 5 64909988 64909988 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr5:64909988T>C c.303A>G c.(301-303)cgA>cgG p.R101R COADREAD 5 64909988 64909988 + Silent SNP T T C TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr5:64909988T>C c.303A>G c.(301-303)cgA>cgG p.R101R COADREAD 5 64909989 64909989 + Missense_Mutation SNP C C A TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr5:64909989C>A c.302G>T c.(301-303)cGa>cTa p.R101L COADREAD 5 64910015 64910015 + Missense_Mutation SNP A A T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64910015A>T c.276T>A c.(274-276)aaT>aaA p.N92K COADREAD 5 64910016 64910016 + Missense_Mutation SNP T T A TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:64910016T>A c.275A>T c.(274-276)aAt>aTt p.N92I COADREAD 5 64910017 64910017 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:64910017T>G c.274A>C c.(274-276)Aat>Cat p.N92H DLBC 5 64905170 64905170 + Missense_Mutation SNP C C T TCGA-GS-A9TY-01A-11D-A38X-10 TCGA-GS-A9TY-10A-01D-A38X-10 g.chr5:64905170C>T c.944G>A c.(943-945)cGt>cAt p.R315H ESCA 5 64890374 64890374 + Missense_Mutation SNP G G T TCGA-Z6-A8JE-01A-11D-A37C-09 TCGA-Z6-A8JE-10A-01D-A37F-09 g.chr5:64890374G>T c.1519C>A c.(1519-1521)Ctg>Atg p.L507M ESCA 5 64905171 64905171 + Missense_Mutation SNP G G A TCGA-LN-A49K-01A-11D-A247-09 TCGA-LN-A49K-10A-01D-A247-09 g.chr5:64905171G>A c.943C>T c.(943-945)Cgt>Tgt p.R315C GBM 5 64887666 64887666 + Missense_Mutation SNP A A G TCGA-06-0219-01A-01D-1491-08 TCGA-06-0219-10A-01D-1491-08 g.chr5:64887666A>G c.1655T>C c.(1654-1656)aTg>aCg p.M552T GBMLGG 5 64887632 64887632 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:64887632C>T c.1689G>A c.(1687-1689)cgG>cgA p.R563R GBMLGG 5 64887666 64887666 + Missense_Mutation SNP A A G TCGA-06-0219-01A-01D-1491-08 TCGA-06-0219-10A-01D-1491-08 g.chr5:64887666A>G c.1655T>C c.(1654-1656)aTg>aCg p.M552T GBMLGG 5 64892881 64892881 + Missense_Mutation SNP T T C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr5:64892881T>C c.1306A>G c.(1306-1308)Att>Gtt p.I436V GBMLGG 5 64910016 64910016 + Frame_Shift_Del DEL T T - TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr5:64910016delT c.275delA c.(274-276)aatfs p.N92fs HNSC 5 64892886 64892886 + Missense_Mutation SNP G G A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr5:64892886G>A c.1301C>T c.(1300-1302)cCa>cTa p.P434L HNSC 5 64905078 64905078 + Missense_Mutation SNP A A C TCGA-P3-A5QE-01A-11D-A28R-08 TCGA-P3-A5QE-10A-01D-A28U-08 g.chr5:64905078A>C c.1036T>G c.(1036-1038)Ttg>Gtg p.L346V HNSC 5 64906779 64906779 + Missense_Mutation SNP T T A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr5:64906779T>A c.737A>T c.(736-738)gAt>gTt p.D246V HNSC 5 64910040 64910040 + Nonsense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr5:64910040G>C c.251C>G c.(250-252)tCa>tGa p.S84* HNSC 5 64913958 64913958 + Missense_Mutation SNP G G A TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr5:64913958G>A c.206C>T c.(205-207)gCa>gTa p.A69V HNSC 5 64913959 64913959 + Missense_Mutation SNP C C T TCGA-UF-A719-01A-12D-A34J-08 TCGA-UF-A719-10A-01D-A34M-08 g.chr5:64913959C>T c.205G>A c.(205-207)Gca>Aca p.A69T KIPAN 5 64892965 64892965 + Missense_Mutation SNP C C T TCGA-B0-5092-01A-01D-1421-08 TCGA-B0-5092-11A-01D-1421-08 g.chr5:64892965C>T c.1222G>A c.(1222-1224)Gtt>Att p.V408I KIPAN 5 64907630 64907630 + Missense_Mutation SNP C C G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr5:64907630C>G c.445G>C c.(445-447)Gag>Cag p.E149Q KIPAN 5 64920038 64920038 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr5:64920038C>T c.64G>A c.(64-66)Ggg>Agg p.G22R KIRC 5 64892965 64892965 + Missense_Mutation SNP C C T TCGA-B0-5092-01A-01D-1421-08 TCGA-B0-5092-11A-01D-1421-08 g.chr5:64892965C>T c.1222G>A c.(1222-1224)Gtt>Att p.V408I KIRC 5 64907630 64907630 + Missense_Mutation SNP C C G TCGA-B8-5158-01A-01D-1421-08 TCGA-B8-5158-10A-01D-1421-08 g.chr5:64907630C>G c.445G>C c.(445-447)Gag>Cag p.E149Q KIRC 5 64920038 64920038 + Missense_Mutation SNP C C T TCGA-B0-5083-01A-02D-1421-08 TCGA-B0-5083-11A-01D-1421-08 g.chr5:64920038C>T c.64G>A c.(64-66)Ggg>Agg p.G22R LGG 5 64887632 64887632 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr5:64887632C>T c.1689G>A c.(1687-1689)cgG>cgA p.R563R LGG 5 64892881 64892881 + Missense_Mutation SNP T T C TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr5:64892881T>C c.1306A>G c.(1306-1308)Att>Gtt p.I436V LGG 5 64910016 64910016 + Frame_Shift_Del DEL T T - TCGA-DU-A7TA-01A-11D-A33T-08 TCGA-DU-A7TA-10A-01D-A33W-08 g.chr5:64910016delT c.275delA c.(274-276)aatfs p.N92fs LIHC 5 64890421 64890421 + Missense_Mutation SNP T T C TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr5:64890421T>C c.1472A>G c.(1471-1473)cAc>cGc p.H491R LIHC 5 64909990 64909990 + Nonsense_Mutation SNP G G A TCGA-2Y-A9H2-01A-12D-A382-10 TCGA-2Y-A9H2-10A-01D-A385-10 g.chr5:64909990G>A c.301C>T c.(301-303)Cga>Tga p.R101* LUAD 5 64890374 64890374 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 g.chr5:64890374G>C c.1519C>G c.(1519-1521)Ctg>Gtg p.L507V LUAD 5 64907502 64907502 + Missense_Mutation SNP C C G TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr5:64907502C>G c.573G>C c.(571-573)ttG>ttC p.L191F LUAD 5 64907537 64907537 + Missense_Mutation SNP G G C TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr5:64907537G>C c.538C>G c.(538-540)Cag>Gag p.Q180E LUAD 5 64910024 64910024 + Silent SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr5:64910024C>T c.267G>A c.(265-267)ttG>ttA p.L89L LUAD 5 64920031 64920031 + Missense_Mutation SNP G G C TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr5:64920031G>C c.71C>G c.(70-72)gCt>gGt p.A24G LUSC 5 64905270 64905270 + Missense_Mutation SNP C C T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr5:64905270C>T c.844G>A c.(844-846)Gag>Aag p.E282K LUSC 5 64905275 64905275 + Missense_Mutation SNP G G A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr5:64905275G>A c.839C>T c.(838-840)aCt>aTt p.T280I LUSC 5 64913946 64913946 + Missense_Mutation SNP G G A TCGA-63-6202-01A-11D-1817-08 TCGA-63-6202-10A-01D-1817-08 g.chr5:64913946G>A c.218C>T c.(217-219)cCa>cTa p.P73L OV 5 64892342 64892342 + Silent SNP A A G TCGA-23-1118-01A-01W-0488-09 TCGA-23-1118-10A-01W-0488-09 g.chr5:64892342A>G c.1326T>C c.(1324-1326)acT>acC p.T442T OV 5 64892358 64892358 + Splice_Site SNP C C A TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 g.chr5:64892358C>A c.1310G>T c.(1309-1311)gGt>gTt p.G437V OV 5 64905203 64905203 + Missense_Mutation SNP T T C TCGA-57-1584-01A-01W-0615-10 TCGA-57-1584-11A-01W-0615-10 g.chr5:64905203T>C c.911A>G c.(910-912)gAa>gGa p.E304G OV 5 64909990 64909990 + Nonsense_Mutation SNP G G A TCGA-24-1436-01A-01W-0549-09 TCGA-24-1436-10A-01W-0549-09 g.chr5:64909990G>A c.301C>T c.(301-303)Cga>Tga p.R101* PAAD 5 64910015 64910016 + Frame_Shift_Ins INS - - T TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 g.chr5:64910015_64910016insT c.275_276insA c.(274-276)aatfs p.N92fs READ 5 64887748 64887748 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64887748C>A c.1573G>T c.(1573-1575)Gaa>Taa p.E525* READ 5 64893000 64893000 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64893000C>T c.1187G>A c.(1186-1188)cGa>cAa p.R396Q READ 5 64905248 64905248 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64905248C>T c.866G>A c.(865-867)cGa>cAa p.R289Q READ 5 64907524 64907524 + Missense_Mutation SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr5:64907524T>C c.551A>G c.(550-552)cAt>cGt p.H184R READ 5 64910015 64910015 + Missense_Mutation SNP A A T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:64910015A>T c.276T>A c.(274-276)aaT>aaA p.N92K SKCM 5 64906724 64906724 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr5:64906724G>A c.792C>T c.(790-792)atC>atT p.I264I SKCM 5 64907555 64907555 + Missense_Mutation SNP C C T TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr5:64907555C>T c.520G>A c.(520-522)Gag>Aag p.E174K SKCM 5 64913954 64913954 + Silent SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr5:64913954G>A c.210C>T c.(208-210)atC>atT p.I70I SKCM 5 64914040 64914040 + Missense_Mutation SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr5:64914040C>T c.124G>A c.(124-126)Gga>Aga p.G42R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 64887257 64887257 single base substitution G C 3_prime_UTR_variant BLCA-CN 5 64887257 64887257 single base substitution G C intron_variant BLCA-CN 5 64906830 64906830 single base substitution G A 3_prime_UTR_variant BLCA-CN 5 64906830 64906830 single base substitution G A downstream_gene_variant BLCA-CN 5 64906830 64906830 single base substitution G A missense_variant S229L 686C>T BLCA-CN 5 64906830 64906830 single base substitution G A upstream_gene_variant BLCA-CN 5 64907630 64907630 single base substitution C T 3_prime_UTR_variant BLCA-CN 5 64907630 64907630 single base substitution C T missense_variant E149K 445G>A BLCA-CN 5 64907630 64907630 single base substitution C T upstream_gene_variant BLCA-US 5 64892995 64892995 single base substitution G C missense_variant H398D 1192C>G BLCA-US 5 64906836 64906836 single base substitution C A 3_prime_UTR_variant BLCA-US 5 64906836 64906836 single base substitution C A downstream_gene_variant BLCA-US 5 64906836 64906836 single base substitution C A missense_variant R227L 680G>T BLCA-US 5 64906836 64906836 single base substitution C A upstream_gene_variant BLCA-US 5 64920912 64920912 single base substitution G C intron_variant BLCA-US 5 64920912 64920912 single base substitution G C upstream_gene_variant BRCA-EU 5 64881164 64881175 deletion of <=200bp TAAGATAATGAA - downstream_gene_variant BRCA-EU 5 64881215 64881215 single base substitution C T downstream_gene_variant BRCA-EU 5 64881957 64881957 single base substitution C T downstream_gene_variant BRCA-EU 5 64883045 64883045 single base substitution G A downstream_gene_variant BRCA-EU 5 64883583 64883583 single base substitution G C downstream_gene_variant BRCA-EU 5 64883742 64883742 single base substitution T C downstream_gene_variant BRCA-EU 5 64883849 64883849 single base substitution G C downstream_gene_variant BRCA-EU 5 64885492 64885492 single base substitution G A downstream_gene_variant BRCA-EU 5 64887383 64887383 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 64887383 64887383 single base substitution T G intron_variant BRCA-EU 5 64887919 64887919 single base substitution G C intron_variant BRCA-EU 5 64889328 64889328 single base substitution G A intron_variant BRCA-EU 5 64890066 64890066 single base substitution C T intron_variant BRCA-EU 5 64890561 64890561 single base substitution T A intron_variant BRCA-EU 5 64892366 64892366 deletion of <=200bp A - splice_region_variant BRCA-EU 5 64893452 64893452 single base substitution T A intron_variant BRCA-EU 5 64896160 64896160 single base substitution G T intron_variant BRCA-EU 5 64898516 64898516 single base substitution G C downstream_gene_variant BRCA-EU 5 64898516 64898516 single base substitution G C intron_variant BRCA-EU 5 64898846 64898846 single base substitution G T downstream_gene_variant BRCA-EU 5 64898846 64898846 single base substitution G T intron_variant BRCA-EU 5 64899041 64899041 single base substitution C T downstream_gene_variant BRCA-EU 5 64899041 64899041 single base substitution C T intron_variant BRCA-EU 5 64899263 64899263 single base substitution G C downstream_gene_variant BRCA-EU 5 64899263 64899263 single base substitution G C intron_variant BRCA-EU 5 64899264 64899264 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 64899264 64899264 deletion of <=200bp A - intron_variant BRCA-EU 5 64900313 64900313 single base substitution G C downstream_gene_variant BRCA-EU 5 64900313 64900313 single base substitution G C intron_variant BRCA-EU 5 64900715 64900715 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 64900715 64900715 insertion of <=200bp - A intron_variant BRCA-EU 5 64906801 64906801 single base substitution T G 3_prime_UTR_variant BRCA-EU 5 64906801 64906801 single base substitution T G downstream_gene_variant BRCA-EU 5 64906801 64906801 single base substitution T G missense_variant T239P 715A>C BRCA-EU 5 64906801 64906801 single base substitution T G upstream_gene_variant BRCA-EU 5 64907209 64907209 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 64907209 64907209 deletion of <=200bp T - intron_variant BRCA-EU 5 64907209 64907209 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 64907729 64907729 single base substitution G A intron_variant BRCA-EU 5 64907729 64907729 single base substitution G A upstream_gene_variant BRCA-EU 5 64908738 64908738 single base substitution G T intron_variant BRCA-EU 5 64908738 64908738 single base substitution G T upstream_gene_variant BRCA-EU 5 64909407 64909407 single base substitution A G downstream_gene_variant BRCA-EU 5 64909407 64909407 single base substitution A G intron_variant BRCA-EU 5 64909407 64909407 single base substitution A G upstream_gene_variant BRCA-EU 5 64913231 64913231 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 64913231 64913231 deletion of <=200bp A - intron_variant BRCA-EU 5 64914861 64914861 single base substitution C G intron_variant BRCA-EU 5 64915813 64915813 single base substitution G T intron_variant BRCA-EU 5 64916057 64916057 single base substitution T C intron_variant BRCA-EU 5 64917812 64917812 single base substitution G A intron_variant BRCA-EU 5 64919084 64919084 single base substitution T A intron_variant BRCA-EU 5 64919173 64919173 single base substitution C G intron_variant BRCA-EU 5 64919192 64919192 single base substitution G C intron_variant BRCA-EU 5 64919472 64919472 single base substitution G A intron_variant BRCA-EU 5 64920369 64920369 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 5 64920369 64920369 single base substitution G A intron_variant BRCA-EU 5 64920369 64920369 single base substitution G A upstream_gene_variant BRCA-FR 5 64883583 64883583 single base substitution G C downstream_gene_variant BRCA-FR 5 64899263 64899263 single base substitution G C downstream_gene_variant BRCA-FR 5 64899263 64899263 single base substitution G C intron_variant BRCA-FR 5 64908276 64908276 single base substitution C T intron_variant BRCA-FR 5 64908276 64908276 single base substitution C T upstream_gene_variant BRCA-FR 5 64915813 64915813 single base substitution G T intron_variant BRCA-FR 5 64916556 64916556 single base substitution A G intron_variant BRCA-FR 5 64917812 64917812 single base substitution G A intron_variant BRCA-UK 5 64920912 64920912 single base substitution G C intron_variant BRCA-UK 5 64920912 64920912 single base substitution G C upstream_gene_variant BRCA-US 5 64892251 64892251 single base substitution G C missense_variant Q473E 1417C>G BRCA-US 5 64892258 64892258 single base substitution G C synonymous_variant L470L 1410C>G BRCA-US 5 64892900 64892900 single base substitution G A synonymous_variant F429F 1287C>T BRCA-US 5 64905155 64905155 single base substitution C A downstream_gene_variant BRCA-US 5 64905155 64905155 single base substitution C A exon_variant BRCA-US 5 64905155 64905155 single base substitution C A missense_variant W320L 959G>T BRCA-US 5 64907435 64907435 single base substitution G C downstream_gene_variant BRCA-US 5 64907435 64907435 single base substitution G C intron_variant BRCA-US 5 64907435 64907435 single base substitution G C missense_variant H214D 640C>G BRCA-US 5 64907435 64907435 single base substitution G C upstream_gene_variant BRCA-US 5 64913932 64913932 single base substitution C G downstream_gene_variant BRCA-US 5 64913932 64913932 single base substitution C G exon_variant BRCA-US 5 64913932 64913932 single base substitution C G intron_variant BRCA-US 5 64913932 64913932 single base substitution C G missense_variant V78L 232G>C BRCA-US 5 64925401 64925401 single base substitution T A upstream_gene_variant BTCA-JP 5 64886077 64886077 single base substitution C T 3_prime_UTR_variant BTCA-JP 5 64886194 64886194 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 5 64886194 64886194 deletion of <=200bp T - intron_variant BTCA-JP 5 64890416 64890416 single base substitution C T missense_variant E493K 1477G>A BTCA-JP 5 64905212 64905212 single base substitution C T downstream_gene_variant BTCA-JP 5 64905212 64905212 single base substitution C T exon_variant BTCA-JP 5 64905212 64905212 single base substitution C T missense_variant R301H 902G>A CESC-US 5 64890377 64890377 single base substitution C A missense_variant A506S 1516G>T CESC-US 5 64925596 64925596 single base substitution C T upstream_gene_variant CLLE-ES 5 64893555 64893555 single base substitution C T intron_variant CLLE-ES 5 64908907 64908907 single base substitution T C intron_variant CLLE-ES 5 64908907 64908907 single base substitution T C upstream_gene_variant CLLE-ES 5 64920562 64920562 single base substitution A T intron_variant CLLE-ES 5 64920562 64920562 single base substitution A T upstream_gene_variant COAD-US 5 64881936 64881936 single base substitution A G downstream_gene_variant COCA-CN 5 64880820 64880820 single base substitution T G downstream_gene_variant COCA-CN 5 64882987 64882987 single base substitution G A downstream_gene_variant COCA-CN 5 64887706 64887706 single base substitution G T missense_variant R539S 1615C>A COCA-CN 5 64887799 64887799 single base substitution T G intron_variant COCA-CN 5 64889417 64889417 single base substitution T C intron_variant COCA-CN 5 64890480 64890480 single base substitution A C splice_region_variant COCA-CN 5 64893014 64893014 single base substitution T G splice_region_variant COCA-CN 5 64894911 64894911 single base substitution G A intron_variant COCA-CN 5 64905248 64905248 single base substitution C T downstream_gene_variant COCA-CN 5 64905248 64905248 single base substitution C T exon_variant COCA-CN 5 64905248 64905248 single base substitution C T missense_variant R289Q 866G>A COCA-CN 5 64907505 64907505 single base substitution G T 3_prime_UTR_variant COCA-CN 5 64907505 64907505 single base substitution G T intron_variant COCA-CN 5 64907505 64907505 single base substitution G T stop_gained C190* 570C>A COCA-CN 5 64907505 64907505 single base substitution G T upstream_gene_variant COCA-CN 5 64910111 64910111 single base substitution C T downstream_gene_variant COCA-CN 5 64910111 64910111 single base substitution C T intron_variant COCA-CN 5 64910111 64910111 single base substitution C T upstream_gene_variant COCA-CN 5 64914132 64914132 single base substitution A G intron_variant COCA-CN 5 64919877 64919877 single base substitution C G intron_variant COCA-CN 5 64920560 64920560 single base substitution T A intron_variant COCA-CN 5 64920560 64920560 single base substitution T A upstream_gene_variant COCA-CN 5 64921058 64921058 single base substitution G A intron_variant COCA-CN 5 64921058 64921058 single base substitution G A upstream_gene_variant COCA-CN 5 64925118 64925118 single base substitution A T upstream_gene_variant ESAD-UK 5 64884662 64884662 single base substitution A G downstream_gene_variant ESAD-UK 5 64887138 64887138 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 64887138 64887138 single base substitution T C intron_variant ESAD-UK 5 64893222 64893222 single base substitution G A intron_variant ESAD-UK 5 64893452 64893452 single base substitution T A intron_variant ESAD-UK 5 64895085 64895085 single base substitution C T intron_variant ESAD-UK 5 64898591 64898591 single base substitution A G downstream_gene_variant ESAD-UK 5 64898591 64898591 single base substitution A G intron_variant ESAD-UK 5 64899498 64899498 single base substitution A G downstream_gene_variant ESAD-UK 5 64899498 64899498 single base substitution A G intron_variant ESAD-UK 5 64899521 64899521 single base substitution A T downstream_gene_variant ESAD-UK 5 64899521 64899521 single base substitution A T intron_variant ESAD-UK 5 64899530 64899530 single base substitution C A downstream_gene_variant ESAD-UK 5 64899530 64899530 single base substitution C A intron_variant ESAD-UK 5 64902092 64902092 single base substitution G A downstream_gene_variant ESAD-UK 5 64902092 64902092 single base substitution G A intron_variant ESAD-UK 5 64906226 64906226 single base substitution C T downstream_gene_variant ESAD-UK 5 64906226 64906226 single base substitution C T intron_variant ESAD-UK 5 64912973 64912973 single base substitution C T downstream_gene_variant ESAD-UK 5 64912973 64912973 single base substitution C T intron_variant ESAD-UK 5 64913685 64913685 single base substitution G T downstream_gene_variant ESAD-UK 5 64913685 64913685 single base substitution G T intron_variant ESAD-UK 5 64919333 64919333 single base substitution C A intron_variant ESAD-UK 5 64920193 64920193 single base substitution A C 5_prime_UTR_variant ESAD-UK 5 64920193 64920193 single base substitution A C upstream_gene_variant ESAD-UK 5 64920194 64920194 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 5 64920194 64920194 single base substitution C A upstream_gene_variant ESAD-UK 5 64920374 64920374 single base substitution A G 5_prime_UTR_variant ESAD-UK 5 64920374 64920374 single base substitution A G intron_variant ESAD-UK 5 64920374 64920374 single base substitution A G upstream_gene_variant ESAD-UK 5 64920832 64920832 single base substitution G C intron_variant ESAD-UK 5 64920832 64920832 single base substitution G C upstream_gene_variant ESAD-UK 5 64921474 64921474 single base substitution G C intron_variant ESAD-UK 5 64921474 64921474 single base substitution G C upstream_gene_variant ESAD-UK 5 64921766 64921766 single base substitution A C 5_prime_UTR_variant ESAD-UK 5 64921766 64921766 single base substitution A C upstream_gene_variant ESAD-UK 5 64921870 64921870 single base substitution G T upstream_gene_variant ESAD-UK 5 64922369 64922369 single base substitution C T upstream_gene_variant ESAD-UK 5 64926421 64926421 single base substitution G T upstream_gene_variant ESCA-CN 5 64906725 64906725 single base substitution A C 3_prime_UTR_variant ESCA-CN 5 64906725 64906725 single base substitution A C downstream_gene_variant ESCA-CN 5 64906725 64906725 single base substitution A C missense_variant I264S 791T>G ESCA-CN 5 64906725 64906725 single base substitution A C upstream_gene_variant ESCA-CN 5 64925256 64925256 single base substitution C T upstream_gene_variant GBM-US 5 64887666 64887666 single base substitution A G intron_variant GBM-US 5 64887666 64887666 single base substitution A G missense_variant M552T 1655T>C GBM-US 5 64887666 64887666 single base substitution A G splice_region_variant KIRC-US 5 64892965 64892965 single base substitution C T missense_variant V408I 1222G>A KIRC-US 5 64907630 64907630 single base substitution C G 3_prime_UTR_variant KIRC-US 5 64907630 64907630 single base substitution C G missense_variant E149Q 445G>C KIRC-US 5 64907630 64907630 single base substitution C G upstream_gene_variant KIRP-US 5 64892965 64892965 single base substitution C T missense_variant V408I 1222G>A KIRP-US 5 64905230 64905230 single base substitution A T downstream_gene_variant KIRP-US 5 64905230 64905230 single base substitution A T exon_variant KIRP-US 5 64905230 64905230 single base substitution A T missense_variant L295Q 884T>A LICA-CN 5 64910022 64910022 single base substitution T G 3_prime_UTR_variant LICA-CN 5 64910022 64910022 single base substitution T G downstream_gene_variant LICA-CN 5 64910022 64910022 single base substitution T G exon_variant LICA-CN 5 64910022 64910022 single base substitution T G missense_variant K90T 269A>C LICA-CN 5 64910022 64910022 single base substitution T G upstream_gene_variant LICA-FR 5 64890041 64890041 single base substitution C A intron_variant LICA-FR 5 64915571 64915571 single base substitution A T intron_variant LIHC-US 5 64890421 64890421 single base substitution T C missense_variant H491R 1472A>G LINC-JP 5 64882159 64882159 single base substitution A T downstream_gene_variant LINC-JP 5 64882870 64882870 single base substitution A C downstream_gene_variant LINC-JP 5 64883094 64883094 single base substitution T A downstream_gene_variant LINC-JP 5 64883278 64883278 single base substitution T C downstream_gene_variant LINC-JP 5 64884450 64884450 single base substitution C A downstream_gene_variant LINC-JP 5 64886853 64886853 single base substitution A C 3_prime_UTR_variant LINC-JP 5 64886853 64886853 single base substitution A C intron_variant LINC-JP 5 64887692 64887692 single base substitution A C missense_variant I543M 1629T>G LINC-JP 5 64887692 64887692 single base substitution A C splice_region_variant LINC-JP 5 64895923 64895923 single base substitution C T intron_variant LINC-JP 5 64906807 64906807 single base substitution T C 3_prime_UTR_variant LINC-JP 5 64906807 64906807 single base substitution T C downstream_gene_variant LINC-JP 5 64906807 64906807 single base substitution T C missense_variant I237V 709A>G LINC-JP 5 64906807 64906807 single base substitution T C upstream_gene_variant LINC-JP 5 64909934 64909934 single base substitution T C 3_prime_UTR_variant LINC-JP 5 64909934 64909934 single base substitution T C downstream_gene_variant LINC-JP 5 64909934 64909934 single base substitution T C exon_variant LINC-JP 5 64909934 64909934 single base substitution T C missense_variant I119M 357A>G LINC-JP 5 64909934 64909934 single base substitution T C upstream_gene_variant LINC-JP 5 64920286 64920286 single base substitution G A 5_prime_UTR_variant LINC-JP 5 64920286 64920286 single base substitution G A upstream_gene_variant LINC-JP 5 64920287 64920287 single base substitution C T 5_prime_UTR_variant LINC-JP 5 64920287 64920287 single base substitution C T upstream_gene_variant LINC-JP 5 64921009 64921009 single base substitution G A intron_variant LINC-JP 5 64921009 64921009 single base substitution G A upstream_gene_variant LINC-JP 5 64926187 64926187 single base substitution A G upstream_gene_variant LINC-JP 5 64926289 64926289 single base substitution A G upstream_gene_variant LIRI-JP 5 64880731 64880731 single base substitution A C downstream_gene_variant LIRI-JP 5 64881171 64881171 single base substitution A G downstream_gene_variant LIRI-JP 5 64882444 64882445 deletion of <=200bp CT - downstream_gene_variant LIRI-JP 5 64883795 64883795 single base substitution G T downstream_gene_variant LIRI-JP 5 64883861 64883861 single base substitution G T downstream_gene_variant LIRI-JP 5 64885115 64885115 single base substitution A C downstream_gene_variant LIRI-JP 5 64888103 64888103 single base substitution A C intron_variant LIRI-JP 5 64888748 64888748 single base substitution T G intron_variant LIRI-JP 5 64890542 64890542 single base substitution A C intron_variant LIRI-JP 5 64891145 64891145 single base substitution G A intron_variant LIRI-JP 5 64891810 64891810 single base substitution A T intron_variant LIRI-JP 5 64893227 64893227 single base substitution T C intron_variant LIRI-JP 5 64894262 64894262 single base substitution T C intron_variant LIRI-JP 5 64895043 64895043 single base substitution T G intron_variant LIRI-JP 5 64896097 64896097 single base substitution A G intron_variant LIRI-JP 5 64897129 64897129 single base substitution T A intron_variant LIRI-JP 5 64897481 64897481 single base substitution T C intron_variant LIRI-JP 5 64899806 64899806 single base substitution A T downstream_gene_variant LIRI-JP 5 64899806 64899806 single base substitution A T intron_variant LIRI-JP 5 64899807 64899807 single base substitution C A downstream_gene_variant LIRI-JP 5 64899807 64899807 single base substitution C A intron_variant LIRI-JP 5 64900520 64900520 single base substitution C T downstream_gene_variant LIRI-JP 5 64900520 64900520 single base substitution C T intron_variant LIRI-JP 5 64900606 64900607 deletion of <=200bp CT - downstream_gene_variant LIRI-JP 5 64900606 64900607 deletion of <=200bp CT - intron_variant LIRI-JP 5 64901359 64901359 single base substitution T G downstream_gene_variant LIRI-JP 5 64901359 64901359 single base substitution T G intron_variant LIRI-JP 5 64903826 64903826 single base substitution A T downstream_gene_variant LIRI-JP 5 64903826 64903826 single base substitution A T intron_variant LIRI-JP 5 64904481 64904481 single base substitution A G downstream_gene_variant LIRI-JP 5 64904481 64904481 single base substitution A G intron_variant LIRI-JP 5 64906984 64906984 single base substitution A T downstream_gene_variant LIRI-JP 5 64906984 64906984 single base substitution A T intron_variant LIRI-JP 5 64906984 64906984 single base substitution A T upstream_gene_variant LIRI-JP 5 64908151 64908151 single base substitution G T intron_variant LIRI-JP 5 64908151 64908151 single base substitution G T upstream_gene_variant LIRI-JP 5 64909154 64909154 single base substitution T G downstream_gene_variant LIRI-JP 5 64909154 64909154 single base substitution T G intron_variant LIRI-JP 5 64909154 64909154 single base substitution T G upstream_gene_variant LIRI-JP 5 64909155 64909155 single base substitution C A downstream_gene_variant LIRI-JP 5 64909155 64909155 single base substitution C A intron_variant LIRI-JP 5 64909155 64909155 single base substitution C A upstream_gene_variant LIRI-JP 5 64911347 64911347 single base substitution T C downstream_gene_variant LIRI-JP 5 64911347 64911347 single base substitution T C intron_variant LIRI-JP 5 64911347 64911347 single base substitution T C upstream_gene_variant LIRI-JP 5 64915215 64915215 single base substitution G C intron_variant LIRI-JP 5 64918496 64918496 single base substitution A G intron_variant LIRI-JP 5 64920059 64920059 single base substitution T A exon_variant LIRI-JP 5 64920059 64920059 single base substitution T A missense_variant S15C 43A>T LIRI-JP 5 64920272 64920272 single base substitution A G 5_prime_UTR_variant LIRI-JP 5 64920272 64920272 single base substitution A G upstream_gene_variant LIRI-JP 5 64920803 64920803 single base substitution C A intron_variant LIRI-JP 5 64920803 64920803 single base substitution C A upstream_gene_variant LIRI-JP 5 64921004 64921004 insertion of <=200bp - T intron_variant LIRI-JP 5 64921004 64921004 insertion of <=200bp - T upstream_gene_variant LIRI-JP 5 64921406 64921406 single base substitution G T intron_variant LIRI-JP 5 64921406 64921406 single base substitution G T upstream_gene_variant LIRI-JP 5 64922340 64922340 single base substitution T C upstream_gene_variant LIRI-JP 5 64926563 64926563 single base substitution A T upstream_gene_variant LUSC-KR 5 64894474 64894474 single base substitution C T intron_variant LUSC-KR 5 64903924 64903924 single base substitution G A downstream_gene_variant LUSC-KR 5 64903924 64903924 single base substitution G A intron_variant LUSC-KR 5 64918379 64918379 single base substitution C A intron_variant LUSC-US 5 64905270 64905270 single base substitution C T downstream_gene_variant LUSC-US 5 64905270 64905270 single base substitution C T exon_variant LUSC-US 5 64905270 64905270 single base substitution C T missense_variant E282K 844G>A LUSC-US 5 64905275 64905275 single base substitution G A downstream_gene_variant LUSC-US 5 64905275 64905275 single base substitution G A exon_variant LUSC-US 5 64905275 64905275 single base substitution G A missense_variant T280I 839C>T LUSC-US 5 64913946 64913946 single base substitution G A downstream_gene_variant LUSC-US 5 64913946 64913946 single base substitution G A exon_variant LUSC-US 5 64913946 64913946 single base substitution G A intron_variant LUSC-US 5 64913946 64913946 single base substitution G A missense_variant P73L 218C>T MALY-DE 5 64886191 64886191 single base substitution G A 3_prime_UTR_variant MALY-DE 5 64886191 64886191 single base substitution G A intron_variant MALY-DE 5 64890489 64890489 insertion of <=200bp - A intron_variant MALY-DE 5 64890750 64890750 single base substitution T C intron_variant MALY-DE 5 64891002 64891002 single base substitution G A intron_variant MALY-DE 5 64892261 64892261 single base substitution G A synonymous_variant Y469Y 1407C>T MALY-DE 5 64892832 64892832 single base substitution A G intron_variant MALY-DE 5 64899780 64899780 single base substitution A T downstream_gene_variant MALY-DE 5 64899780 64899780 single base substitution A T intron_variant MALY-DE 5 64905139 64905139 single base substitution T A downstream_gene_variant MALY-DE 5 64905139 64905139 single base substitution T A exon_variant MALY-DE 5 64905139 64905139 single base substitution T A missense_variant Q325H 975A>T MALY-DE 5 64905261 64905261 single base substitution G A downstream_gene_variant MALY-DE 5 64905261 64905261 single base substitution G A exon_variant MALY-DE 5 64905261 64905261 single base substitution G A missense_variant R285W 853C>T MALY-DE 5 64908497 64908497 single base substitution T A intron_variant MALY-DE 5 64908497 64908497 single base substitution T A upstream_gene_variant MALY-DE 5 64920765 64920765 single base substitution C A intron_variant MALY-DE 5 64920765 64920765 single base substitution C A upstream_gene_variant MELA-AU 5 64881207 64881207 single base substitution C T downstream_gene_variant MELA-AU 5 64881923 64881923 single base substitution G A downstream_gene_variant MELA-AU 5 64881996 64881997 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 64883518 64883518 single base substitution C T downstream_gene_variant MELA-AU 5 64884921 64884921 single base substitution C T downstream_gene_variant MELA-AU 5 64885229 64885229 single base substitution G A downstream_gene_variant MELA-AU 5 64886181 64886181 single base substitution A T 3_prime_UTR_variant MELA-AU 5 64886181 64886181 single base substitution A T intron_variant MELA-AU 5 64886913 64886913 single base substitution T C 3_prime_UTR_variant MELA-AU 5 64886913 64886913 single base substitution T C intron_variant MELA-AU 5 64887229 64887229 single base substitution T C 3_prime_UTR_variant MELA-AU 5 64887229 64887229 single base substitution T C intron_variant MELA-AU 5 64887455 64887455 single base substitution C T 3_prime_UTR_variant MELA-AU 5 64887455 64887455 single base substitution C T intron_variant MELA-AU 5 64888921 64888921 single base substitution A G intron_variant MELA-AU 5 64888970 64888970 single base substitution G A intron_variant MELA-AU 5 64889891 64889891 single base substitution C T intron_variant MELA-AU 5 64890067 64890068 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 5 64890401 64890401 single base substitution A C missense_variant L498V 1492T>G MELA-AU 5 64893271 64893271 single base substitution C T intron_variant MELA-AU 5 64893964 64893964 single base substitution C T intron_variant MELA-AU 5 64894738 64894738 single base substitution T C intron_variant MELA-AU 5 64895314 64895314 single base substitution A T intron_variant MELA-AU 5 64896205 64896205 single base substitution C T intron_variant MELA-AU 5 64896989 64896989 single base substitution A C intron_variant MELA-AU 5 64897862 64897862 single base substitution G A downstream_gene_variant MELA-AU 5 64897862 64897862 single base substitution G A intron_variant MELA-AU 5 64898064 64898064 single base substitution A G downstream_gene_variant MELA-AU 5 64898064 64898064 single base substitution A G intron_variant MELA-AU 5 64898688 64898688 single base substitution A C downstream_gene_variant MELA-AU 5 64898688 64898688 single base substitution A C intron_variant MELA-AU 5 64898703 64898703 single base substitution G A downstream_gene_variant MELA-AU 5 64898703 64898703 single base substitution G A intron_variant MELA-AU 5 64899947 64899947 single base substitution G A downstream_gene_variant MELA-AU 5 64899947 64899947 single base substitution G A intron_variant MELA-AU 5 64900321 64900321 single base substitution G A downstream_gene_variant MELA-AU 5 64900321 64900321 single base substitution G A intron_variant MELA-AU 5 64902846 64902846 single base substitution A G downstream_gene_variant MELA-AU 5 64902846 64902846 single base substitution A G exon_variant MELA-AU 5 64902846 64902846 single base substitution A G intron_variant MELA-AU 5 64904035 64904035 single base substitution G A downstream_gene_variant MELA-AU 5 64904035 64904035 single base substitution G A intron_variant MELA-AU 5 64904155 64904155 single base substitution G A downstream_gene_variant MELA-AU 5 64904155 64904155 single base substitution G A intron_variant MELA-AU 5 64904235 64904235 single base substitution G A downstream_gene_variant MELA-AU 5 64904235 64904235 single base substitution G A intron_variant MELA-AU 5 64904848 64904848 insertion of <=200bp - TTAGA downstream_gene_variant MELA-AU 5 64904848 64904848 insertion of <=200bp - TTAGA intron_variant MELA-AU 5 64905333 64905333 single base substitution T G downstream_gene_variant MELA-AU 5 64905333 64905333 single base substitution T G intron_variant MELA-AU 5 64905725 64905725 single base substitution G A downstream_gene_variant MELA-AU 5 64905725 64905725 single base substitution G A intron_variant MELA-AU 5 64906669 64906669 single base substitution G A downstream_gene_variant MELA-AU 5 64906669 64906669 single base substitution G A intron_variant MELA-AU 5 64908062 64908062 single base substitution A G intron_variant MELA-AU 5 64908062 64908062 single base substitution A G upstream_gene_variant MELA-AU 5 64908212 64908212 single base substitution G A intron_variant MELA-AU 5 64908212 64908212 single base substitution G A upstream_gene_variant MELA-AU 5 64908711 64908711 single base substitution C A intron_variant MELA-AU 5 64908711 64908711 single base substitution C A upstream_gene_variant MELA-AU 5 64909698 64909698 single base substitution G A downstream_gene_variant MELA-AU 5 64909698 64909698 single base substitution G A intron_variant MELA-AU 5 64909698 64909698 single base substitution G A upstream_gene_variant MELA-AU 5 64910372 64910372 single base substitution G A downstream_gene_variant MELA-AU 5 64910372 64910372 single base substitution G A intron_variant MELA-AU 5 64910372 64910372 single base substitution G A upstream_gene_variant MELA-AU 5 64910999 64910999 single base substitution G A downstream_gene_variant MELA-AU 5 64910999 64910999 single base substitution G A intron_variant MELA-AU 5 64910999 64910999 single base substitution G A upstream_gene_variant MELA-AU 5 64911814 64911815 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 5 64911814 64911815 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 64912709 64912709 single base substitution T A downstream_gene_variant MELA-AU 5 64912709 64912709 single base substitution T A intron_variant MELA-AU 5 64913129 64913129 single base substitution A G downstream_gene_variant MELA-AU 5 64913129 64913129 single base substitution A G intron_variant MELA-AU 5 64913334 64913334 single base substitution A G downstream_gene_variant MELA-AU 5 64913334 64913334 single base substitution A G intron_variant MELA-AU 5 64913954 64913954 single base substitution G A downstream_gene_variant MELA-AU 5 64913954 64913954 single base substitution G A exon_variant MELA-AU 5 64913954 64913954 single base substitution G A intron_variant MELA-AU 5 64913954 64913954 single base substitution G A synonymous_variant I70I 210C>T MELA-AU 5 64913989 64913989 single base substitution A G downstream_gene_variant MELA-AU 5 64913989 64913989 single base substitution A G exon_variant MELA-AU 5 64913989 64913989 single base substitution A G intron_variant MELA-AU 5 64913989 64913989 single base substitution A G missense_variant C59R 175T>C MELA-AU 5 64914380 64914381 deletion of <=200bp AA - intron_variant MELA-AU 5 64915006 64915006 single base substitution G A intron_variant MELA-AU 5 64916026 64916026 single base substitution T C intron_variant MELA-AU 5 64916671 64916671 single base substitution G A intron_variant MELA-AU 5 64916834 64916834 single base substitution G A intron_variant MELA-AU 5 64917239 64917239 single base substitution G A intron_variant MELA-AU 5 64918771 64918771 single base substitution A T intron_variant MELA-AU 5 64919955 64919955 single base substitution G T intron_variant MELA-AU 5 64920158 64920158 single base substitution G T 5_prime_UTR_variant MELA-AU 5 64920158 64920158 single base substitution G T upstream_gene_variant MELA-AU 5 64920588 64920588 single base substitution C A intron_variant MELA-AU 5 64920588 64920588 single base substitution C A upstream_gene_variant MELA-AU 5 64920825 64920825 single base substitution C T intron_variant MELA-AU 5 64920825 64920825 single base substitution C T upstream_gene_variant MELA-AU 5 64920825 64920826 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 64920825 64920826 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 64920826 64920826 single base substitution C A intron_variant MELA-AU 5 64920826 64920826 single base substitution C A upstream_gene_variant MELA-AU 5 64920826 64920826 single base substitution C T intron_variant MELA-AU 5 64920826 64920826 single base substitution C T upstream_gene_variant MELA-AU 5 64920904 64920904 single base substitution C T intron_variant MELA-AU 5 64920904 64920904 single base substitution C T upstream_gene_variant MELA-AU 5 64921575 64921575 single base substitution T G intron_variant MELA-AU 5 64921575 64921575 single base substitution T G upstream_gene_variant MELA-AU 5 64921606 64921606 single base substitution G A intron_variant MELA-AU 5 64921606 64921606 single base substitution G A upstream_gene_variant MELA-AU 5 64922117 64922117 single base substitution C G upstream_gene_variant MELA-AU 5 64922648 64922648 single base substitution C T upstream_gene_variant MELA-AU 5 64922934 64922934 single base substitution G T upstream_gene_variant MELA-AU 5 64923216 64923216 single base substitution G C upstream_gene_variant MELA-AU 5 64923254 64923254 single base substitution C T upstream_gene_variant MELA-AU 5 64924074 64924074 single base substitution C T upstream_gene_variant MELA-AU 5 64925806 64925806 single base substitution C T upstream_gene_variant MELA-AU 5 64926276 64926276 single base substitution C T upstream_gene_variant ORCA-IN 5 64882395 64882395 single base substitution G A downstream_gene_variant ORCA-IN 5 64889994 64889994 single base substitution C T intron_variant ORCA-IN 5 64898748 64898748 single base substitution G C downstream_gene_variant ORCA-IN 5 64898748 64898748 single base substitution G C intron_variant ORCA-IN 5 64901950 64901950 single base substitution C G downstream_gene_variant ORCA-IN 5 64901950 64901950 single base substitution C G intron_variant ORCA-IN 5 64919032 64919032 single base substitution C T intron_variant OV-AU 5 64895370 64895370 single base substitution C A intron_variant OV-AU 5 64903350 64903350 single base substitution C A downstream_gene_variant OV-AU 5 64903350 64903350 single base substitution C A intron_variant OV-AU 5 64904671 64904671 single base substitution C G downstream_gene_variant OV-AU 5 64904671 64904671 single base substitution C G intron_variant OV-AU 5 64915906 64915906 single base substitution G A intron_variant OV-US 5 64892342 64892342 single base substitution A G synonymous_variant T442T 1326T>C OV-US 5 64909990 64909990 single base substitution G A 3_prime_UTR_variant OV-US 5 64909990 64909990 single base substitution G A downstream_gene_variant OV-US 5 64909990 64909990 single base substitution G A exon_variant OV-US 5 64909990 64909990 single base substitution G A stop_gained R101* 301C>T OV-US 5 64909990 64909990 single base substitution G A upstream_gene_variant PACA-AU 5 64883036 64883036 single base substitution G T downstream_gene_variant PACA-AU 5 64883981 64883981 deletion of <=200bp T - downstream_gene_variant PACA-AU 5 64883986 64883986 single base substitution A G downstream_gene_variant PACA-AU 5 64886643 64886643 single base substitution C A 3_prime_UTR_variant PACA-AU 5 64886643 64886643 single base substitution C A intron_variant PACA-AU 5 64890777 64890777 single base substitution C T intron_variant PACA-AU 5 64893742 64893742 single base substitution A T intron_variant PACA-AU 5 64910645 64910645 single base substitution C T downstream_gene_variant PACA-AU 5 64910645 64910645 single base substitution C T intron_variant PACA-AU 5 64910645 64910645 single base substitution C T upstream_gene_variant PACA-AU 5 64914024 64914024 single base substitution C T downstream_gene_variant PACA-AU 5 64914024 64914024 single base substitution C T exon_variant PACA-AU 5 64914024 64914024 single base substitution C T intron_variant PACA-AU 5 64914024 64914024 single base substitution C T missense_variant R47H 140G>A PACA-AU 5 64917668 64917668 single base substitution T A intron_variant PACA-AU 5 64924304 64924304 single base substitution T G upstream_gene_variant PACA-AU 5 64924402 64924402 single base substitution G T upstream_gene_variant PACA-CA 5 64889219 64889219 single base substitution G A intron_variant PACA-CA 5 64891046 64891046 single base substitution G A intron_variant PACA-CA 5 64894279 64894279 single base substitution C G intron_variant PACA-CA 5 64896128 64896128 single base substitution A G intron_variant PACA-CA 5 64896858 64896858 single base substitution A G intron_variant PACA-CA 5 64898227 64898227 single base substitution T C downstream_gene_variant PACA-CA 5 64898227 64898227 single base substitution T C intron_variant PACA-CA 5 64898879 64898879 single base substitution C G downstream_gene_variant PACA-CA 5 64898879 64898879 single base substitution C G intron_variant PACA-CA 5 64902339 64902339 single base substitution G T downstream_gene_variant PACA-CA 5 64902339 64902339 single base substitution G T intron_variant PACA-CA 5 64902536 64902536 single base substitution C A downstream_gene_variant PACA-CA 5 64902536 64902536 single base substitution C A intron_variant PACA-CA 5 64908316 64908316 single base substitution A G intron_variant PACA-CA 5 64908316 64908316 single base substitution A G upstream_gene_variant PACA-CA 5 64911846 64911846 single base substitution T A downstream_gene_variant PACA-CA 5 64911846 64911846 single base substitution T A intron_variant PACA-CA 5 64913384 64913384 single base substitution G A downstream_gene_variant PACA-CA 5 64913384 64913384 single base substitution G A intron_variant PACA-CA 5 64916951 64916951 single base substitution G A intron_variant PACA-CA 5 64918412 64918412 single base substitution T C intron_variant PACA-CA 5 64923662 64923662 single base substitution G A upstream_gene_variant PAEN-AU 5 64880717 64880717 single base substitution C A downstream_gene_variant PAEN-AU 5 64882971 64882971 single base substitution T C downstream_gene_variant PAEN-AU 5 64900195 64900195 single base substitution T A downstream_gene_variant PAEN-AU 5 64900195 64900195 single base substitution T A intron_variant PAEN-IT 5 64902101 64902101 single base substitution T C downstream_gene_variant PAEN-IT 5 64902101 64902101 single base substitution T C intron_variant PAEN-IT 5 64912253 64912253 single base substitution G T downstream_gene_variant PAEN-IT 5 64912253 64912253 single base substitution G T intron_variant PBCA-DE 5 64887915 64887915 single base substitution T G intron_variant PBCA-DE 5 64897268 64897268 deletion of <=200bp A - intron_variant PBCA-DE 5 64917346 64917346 single base substitution T A intron_variant PRAD-CA 5 64880717 64880717 single base substitution C A downstream_gene_variant PRAD-CA 5 64881797 64881797 single base substitution T C downstream_gene_variant PRAD-CA 5 64905858 64905858 single base substitution C T downstream_gene_variant PRAD-CA 5 64905858 64905858 single base substitution C T intron_variant PRAD-CA 5 64913913 64913913 single base substitution T G downstream_gene_variant PRAD-CA 5 64913913 64913913 single base substitution T G intron_variant PRAD-CA 5 64913913 64913913 single base substitution T G splice_region_variant PRAD-CA 5 64914250 64914250 single base substitution C T intron_variant PRAD-CA 5 64920537 64920537 single base substitution C T intron_variant PRAD-CA 5 64920537 64920537 single base substitution C T upstream_gene_variant PRAD-UK 5 64884370 64884370 single base substitution G A downstream_gene_variant PRAD-UK 5 64890652 64890652 single base substitution A T intron_variant PRAD-UK 5 64913230 64913230 insertion of <=200bp - A downstream_gene_variant PRAD-UK 5 64913230 64913230 insertion of <=200bp - A intron_variant PRAD-UK 5 64919175 64919175 single base substitution A G intron_variant READ-US 5 64890396 64890396 single base substitution C T synonymous_variant T499T 1497G>A READ-US 5 64892330 64892330 single base substitution T G missense_variant K446N 1338A>C READ-US 5 64892960 64892960 single base substitution C T synonymous_variant T409T 1227G>A RECA-EU 5 64888109 64888109 single base substitution G C intron_variant RECA-EU 5 64902622 64902622 single base substitution G T downstream_gene_variant RECA-EU 5 64902622 64902622 single base substitution G T intron_variant RECA-EU 5 64904527 64904527 single base substitution A G downstream_gene_variant RECA-EU 5 64904527 64904527 single base substitution A G intron_variant RECA-EU 5 64904963 64904963 single base substitution C T downstream_gene_variant RECA-EU 5 64904963 64904963 single base substitution C T intron_variant RECA-EU 5 64909977 64909977 single base substitution C A 3_prime_UTR_variant RECA-EU 5 64909977 64909977 single base substitution C A downstream_gene_variant RECA-EU 5 64909977 64909977 single base substitution C A exon_variant RECA-EU 5 64909977 64909977 single base substitution C A missense_variant G105V 314G>T RECA-EU 5 64909977 64909977 single base substitution C A upstream_gene_variant RECA-EU 5 64914788 64914788 single base substitution G C intron_variant SKCA-BR 5 64891384 64891385 deletion of <=200bp CA - intron_variant SKCA-BR 5 64894494 64894494 single base substitution G A intron_variant SKCA-BR 5 64899789 64899789 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 5 64899789 64899789 insertion of <=200bp - CT intron_variant SKCA-BR 5 64901297 64901297 single base substitution G A downstream_gene_variant SKCA-BR 5 64901297 64901297 single base substitution G A intron_variant SKCA-BR 5 64902277 64902277 single base substitution A C downstream_gene_variant SKCA-BR 5 64902277 64902277 single base substitution A C intron_variant SKCA-BR 5 64904028 64904028 single base substitution A G downstream_gene_variant SKCA-BR 5 64904028 64904028 single base substitution A G intron_variant SKCA-BR 5 64904263 64904263 single base substitution G A downstream_gene_variant SKCA-BR 5 64904263 64904263 single base substitution G A intron_variant SKCA-BR 5 64911119 64911119 single base substitution G A downstream_gene_variant SKCA-BR 5 64911119 64911119 single base substitution G A intron_variant SKCA-BR 5 64911119 64911119 single base substitution G A upstream_gene_variant SKCA-BR 5 64916739 64916739 insertion of <=200bp - CA intron_variant SKCA-BR 5 64920560 64920560 single base substitution T A intron_variant SKCA-BR 5 64920560 64920560 single base substitution T A upstream_gene_variant SKCA-BR 5 64920825 64920825 single base substitution C T intron_variant SKCA-BR 5 64920825 64920825 single base substitution C T upstream_gene_variant SKCA-BR 5 64920826 64920826 single base substitution C T intron_variant SKCA-BR 5 64920826 64920826 single base substitution C T upstream_gene_variant SKCA-BR 5 64923660 64923660 single base substitution T C upstream_gene_variant SKCM-US 5 64906724 64906724 single base substitution G A 3_prime_UTR_variant SKCM-US 5 64906724 64906724 single base substitution G A downstream_gene_variant SKCM-US 5 64906724 64906724 single base substitution G A synonymous_variant I264I 792C>T SKCM-US 5 64906724 64906724 single base substitution G A upstream_gene_variant SKCM-US 5 64907555 64907555 single base substitution C T 3_prime_UTR_variant SKCM-US 5 64907555 64907555 single base substitution C T intron_variant SKCM-US 5 64907555 64907555 single base substitution C T missense_variant E174K 520G>A SKCM-US 5 64907555 64907555 single base substitution C T upstream_gene_variant SKCM-US 5 64913954 64913954 single base substitution G A downstream_gene_variant SKCM-US 5 64913954 64913954 single base substitution G A exon_variant SKCM-US 5 64913954 64913954 single base substitution G A intron_variant SKCM-US 5 64913954 64913954 single base substitution G A synonymous_variant I70I 210C>T SKCM-US 5 64914040 64914040 single base substitution C T downstream_gene_variant SKCM-US 5 64914040 64914040 single base substitution C T exon_variant SKCM-US 5 64914040 64914040 single base substitution C T intron_variant SKCM-US 5 64914040 64914040 single base substitution C T missense_variant G42R 124G>A STAD-US 5 64881883 64881883 single base substitution T C downstream_gene_variant STAD-US 5 64881889 64881889 single base substitution G T downstream_gene_variant STAD-US 5 64883133 64883133 single base substitution A G downstream_gene_variant STAD-US 5 64887740 64887740 single base substitution A G synonymous_variant T527T 1581T>C STAD-US 5 64890371 64890371 single base substitution G A missense_variant L508F 1522C>T STAD-US 5 64892294 64892294 single base substitution T G missense_variant K458N 1374A>C STAD-US 5 64905171 64905171 single base substitution G A downstream_gene_variant STAD-US 5 64905171 64905171 single base substitution G A exon_variant STAD-US 5 64905171 64905171 single base substitution G A missense_variant R315C 943C>T STAD-US 5 64909976 64909976 single base substitution C T 3_prime_UTR_variant STAD-US 5 64909976 64909976 single base substitution C T downstream_gene_variant STAD-US 5 64909976 64909976 single base substitution C T exon_variant STAD-US 5 64909976 64909976 single base substitution C T synonymous_variant G105G 315G>A STAD-US 5 64909976 64909976 single base substitution C T upstream_gene_variant STAD-US 5 64910016 64910016 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 5 64910016 64910016 deletion of <=200bp T - downstream_gene_variant STAD-US 5 64910016 64910016 deletion of <=200bp T - exon_variant STAD-US 5 64910016 64910016 deletion of <=200bp T - frameshift_variant N92 STAD-US 5 64910016 64910016 deletion of <=200bp T - upstream_gene_variant STAD-US 5 64910016 64910016 single base substitution T A 3_prime_UTR_variant STAD-US 5 64910016 64910016 single base substitution T A downstream_gene_variant STAD-US 5 64910016 64910016 single base substitution T A exon_variant STAD-US 5 64910016 64910016 single base substitution T A missense_variant N92I 275A>T STAD-US 5 64910016 64910016 single base substitution T A upstream_gene_variant THCA-SA 5 64892939 64892939 single base substitution T G synonymous_variant G416G 1248A>C THCA-SA 5 64926104 64926104 single base substitution A G upstream_gene_variant THCA-SA 5 64926174 64926174 single base substitution C T upstream_gene_variant UCEC-US 5 64880902 64880902 single base substitution A G downstream_gene_variant UCEC-US 5 64881996 64881996 single base substitution G T downstream_gene_variant UCEC-US 5 64883145 64883145 single base substitution G T downstream_gene_variant UCEC-US 5 64887633 64887633 single base substitution C T intron_variant UCEC-US 5 64887633 64887633 single base substitution C T missense_variant R563Q 1688G>A UCEC-US 5 64887675 64887675 single base substitution C T intron_variant UCEC-US 5 64887675 64887675 single base substitution C T missense_variant R549Q 1646G>A UCEC-US 5 64887676 64887676 single base substitution G A intron_variant UCEC-US 5 64887676 64887676 single base substitution G A stop_gained R549* 1645C>T UCEC-US 5 64887706 64887706 single base substitution G T missense_variant R539S 1615C>A UCEC-US 5 64892345 64892345 single base substitution T G missense_variant E441D 1323A>C UCEC-US 5 64905096 64905096 single base substitution G T downstream_gene_variant UCEC-US 5 64905096 64905096 single base substitution G T exon_variant UCEC-US 5 64905096 64905096 single base substitution G T missense_variant L340I 1018C>A UCEC-US 5 64905164 64905164 single base substitution T G downstream_gene_variant UCEC-US 5 64905164 64905164 single base substitution T G exon_variant UCEC-US 5 64905164 64905164 single base substitution T G missense_variant K317T 950A>C UCEC-US 5 64906802 64906802 single base substitution C T 3_prime_UTR_variant UCEC-US 5 64906802 64906802 single base substitution C T downstream_gene_variant UCEC-US 5 64906802 64906802 single base substitution C T synonymous_variant R238R 714G>A UCEC-US 5 64906802 64906802 single base substitution C T upstream_gene_variant UCEC-US 5 64907521 64907521 single base substitution G A 3_prime_UTR_variant UCEC-US 5 64907521 64907521 single base substitution G A intron_variant UCEC-US 5 64907521 64907521 single base substitution G A missense_variant A185V 554C>T UCEC-US 5 64907521 64907521 single base substitution G A upstream_gene_variant UCEC-US 5 64909948 64909948 single base substitution C A 3_prime_UTR_variant UCEC-US 5 64909948 64909948 single base substitution C A downstream_gene_variant UCEC-US 5 64909948 64909948 single base substitution C A exon_variant UCEC-US 5 64909948 64909948 single base substitution C A stop_gained E115* 343G>T UCEC-US 5 64909948 64909948 single base substitution C A upstream_gene_variant UCEC-US 5 64910016 64910016 single base substitution T A 3_prime_UTR_variant UCEC-US 5 64910016 64910016 single base substitution T A downstream_gene_variant UCEC-US 5 64910016 64910016 single base substitution T A exon_variant UCEC-US 5 64910016 64910016 single base substitution T A missense_variant N92I 275A>T UCEC-US 5 64910016 64910016 single base substitution T A upstream_gene_variant UCEC-US 5 64913979 64913979 single base substitution C T downstream_gene_variant UCEC-US 5 64913979 64913979 single base substitution C T exon_variant UCEC-US 5 64913979 64913979 single base substitution C T intron_variant UCEC-US 5 64913979 64913979 single base substitution C T missense_variant R62H 185G>A UCEC-US 5 64920769 64920769 single base substitution G T intron_variant UCEC-US 5 64920769 64920769 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WA46 COSM242035 c.212G>A p.R71H Substitution - Missense 5:65618125-65618125 - B15 COSM254996 c.686C>T p.S229L Substitution - Missense 5:65611003-65611003 - 3206A7_019_T COSM5043257 c.1342C>A p.L448I Substitution - Missense 5:65596499-65596499 - ATL023 COSM5709736 c.376C>T p.R126C Substitution - Missense 5:65611872-65611872 - CSCC-15-T COSM4529912 c.1651G>A p.G551S Substitution - Missense 5:65591843-65591843 - DLD1 COSM3346206 c.501T>A p.P167P Substitution - coding silent 5:65611747-65611747 - TCGA-C8-A27B-01 COSM1486899 c.640C>G p.H214D Substitution - Missense 5:65611608-65611608 - HCC83T COSM3661878 c.357A>G p.I119M Substitution - Missense 5:65614107-65614107 - HCC23T COSM1620461 c.81+3G>A p.? Unknown 5:65624191-65624191 - RK061_C01 COSM1634288 c.43A>T p.S15C Substitution - Missense 5:65624232-65624232 - HCC83 COSM3661878 c.357A>G p.I119M Substitution - Missense 5:65614107-65614107 - 587222 COSM1230305 c.1032G>T p.K344N Substitution - Missense 5:65609255-65609255 - TCGA-D3-A5GU-06 COSM3617473 c.210C>T p.I70I Substitution - coding silent 5:65618127-65618127 - TCGA-24-1436-01 COSM79305 c.301C>T p.R101* Substitution - Nonsense 5:65614163-65614163 - HCC81 COSM1620459 c.1629T>G p.I543M Substitution - Missense 5:65591865-65591865 - TCGA-BS-A0UF-01 COSM1069365 c.554C>T p.A185V Substitution - Missense 5:65611694-65611694 - TCGA-B0-5083-01 COSM1496116 c.64G>A p.G22R Substitution - Missense 5:65624211-65624211 - B15 COSM254996 c.686C>T p.S229L Substitution - Missense 5:65611003-65611003 - TCGA-B5-A11H-01 COSM1069360 c.1615C>A p.R539S Substitution - Missense 5:65591879-65591879 - STC252 COSM5061152 c.1609T>C p.C537R Substitution - Missense 5:65591885-65591885 - TCGA-AC-A23C-01 COSM1486898 c.959G>T p.W320L Substitution - Missense 5:65609328-65609328 - tumor_4184094 COSM3357902 c.1407C>T p.Y469Y Substitution - coding silent 5:65596434-65596434 - TCGA-DA-A1IA-06 COSM1695839 c.124G>A p.G42R Substitution - Missense 5:65618213-65618213 - MOLT-4 COSM1671672 c.1060G>T p.V354F Substitution - Missense 5:65605030-65605030 - TCGA-F5-6814-01 COSM3429557 c.1497G>A p.T499T Substitution - coding silent 5:65594569-65594569 - 587222 COSM176344 c.1573G>T p.E525* Substitution - Nonsense 5:65591921-65591921 - S02322 COSM5691493 c.1370G>A p.G457E Substitution - Missense 5:65596471-65596471 - TCGA-B5-A11E-01 COSM1069361 c.1323A>C p.E441D Substitution - Missense 5:65596518-65596518 - EGC15 COSM5061154 c.499C>A p.P167T Substitution - Missense 5:65611749-65611749 - TCGA-24-2030-01 COSM115950 c.1331A>C p.E444A Substitution - Missense 5:65596510-65596510 - TCGA-B8-5158-01 COSM482959 c.445G>C p.E149Q Substitution - Missense 5:65611803-65611803 - 8052570 COSM3393637 c.140G>A p.R47H Substitution - Missense 5:65618197-65618197 - TCGA-F5-6814-01 COSM3429559 c.1338A>C p.K446N Substitution - Missense 5:65596503-65596503 - TCGA-PJ-A5Z9-01 COSM482958 c.1222G>A p.V408I Substitution - Missense 5:65597138-65597138 - TCGA-BS-A0UA-01 COSM1069358 c.1646G>A p.R549Q Substitution - Missense 5:65591848-65591848 - TCGA-AN-A0AR-01 COSM449967 c.232G>C p.V78L Substitution - Missense 5:65618105-65618105 - HCC2998 COSM3346193 c.1123A>G p.T375A Substitution - Missense 5:65604967-65604967 - LUAD-CHTN-Z4716A COSM362338 c.130A>G p.K44E Substitution - Missense 5:65618207-65618207 - CSCC-57-T COSM4558910 c.784G>A p.E262K Substitution - Missense 5:65610905-65610905 - YUKRIN COSM1695839 c.124G>A p.G42R Substitution - Missense 5:65618213-65618213 - B101-Tumor COSM254995 c.445G>A p.E149K Substitution - Missense 5:65611803-65611803 - CPCG0210-F1 COSM4966544 c.244+7A>C p.? Unknown 5:65618086-65618086 - HCC126T COSM3661876 c.709A>G p.I237V Substitution - Missense 5:65610980-65610980 - BD14T COSM5517104 c.902G>A p.R301H Substitution - Missense 5:65609385-65609385 - HN_62237 COSM126996 c.734C>G p.S245* Substitution - Nonsense 5:65610955-65610955 - TCGA-57-1584-01 COSM78696 c.911A>G p.E304G Substitution - Missense 5:65609376-65609376 - TCGA-BR-7851-01 COSM3346211 c.315G>A p.G105G Substitution - coding silent 5:65614149-65614149 - LUAD-YINHD COSM351247 c.208A>G p.I70V Substitution - Missense 5:65618129-65618129 - TCGA-AG-A002-01 COSM264189 c.276T>A p.N92K Substitution - Missense 5:65614188-65614188 - TCGA-HU-8602-01 COSM3855888 c.943C>T p.R315C Substitution - Missense 5:65609344-65609344 - A1 COSM5351207 c.1253_1254insA p.T419fs*5 Insertion - Frameshift 5:65597106-65597107 - HCC014T COSM5814388 c.269A>C p.K90T Substitution - Missense 5:65614195-65614195 - TCGA-BQ-5885-01 COSM3994374 c.884T>A p.L295Q Substitution - Missense 5:65609403-65609403 - ESCC-127T COSM3941357 c.791T>G p.I264S Substitution - Missense 5:65610898-65610898 - 587376 COSM176344 c.1573G>T p.E525* Substitution - Nonsense 5:65591921-65591921 - B101 COSM254995 c.445G>A p.E149K Substitution - Missense 5:65611803-65611803 - TCGA-CG-5728-01 COSM194217 c.275A>T p.N92I Substitution - Missense 5:65614189-65614189 - TCGA-AC-A23H-01 COSM3828285 c.1410C>G p.L470L Substitution - coding silent 5:65596431-65596431 - 61 COSM5737243 c.1157G>A p.S386N Substitution - Missense 5:65604933-65604933 - C0089T COSM4155869 c.314G>T p.G105V Substitution - Missense 5:65614150-65614150 - TCGA-BR-8680-01 COSM3855886 c.1374A>C p.K458N Substitution - Missense 5:65596467-65596467 - TCGA-EJ-7125-01 COSM3674472 c.1217G>T p.R406L Substitution - Missense 5:65597143-65597143 - BD121T COSM5515055 c.1477G>A p.E493K Substitution - Missense 5:65594589-65594589 - T3024 COSM4735978 c.965G>A p.R322K Substitution - Missense 5:65609322-65609322 - TCGA-DD-A119-01 COSM4919904 c.1472A>G p.H491R Substitution - Missense 5:65594594-65594594 - TCGA-BR-4256-01 COSM3855882 c.1581T>C p.T527T Substitution - coding silent 5:65591913-65591913 - TCGA-BS-A0UV-01 COSM1069366 c.343G>T p.E115* Substitution - Nonsense 5:65614121-65614121 - TTC466 COSM4585941 c.1496C>T p.T499M Substitution - Missense 5:65594570-65594570 - TCGA-EQ-A4SO-01 COSM3855884 c.1522C>T p.L508F Substitution - Missense 5:65594544-65594544 - QC2-34-T2 COSM5654734 c.712C>T p.R238W Substitution - Missense 5:65610977-65610977 - 2492729 COSM5726965 c.1488G>A p.K496K Substitution - coding silent 5:65594578-65594578 - TCGA-B5-A11G-01 COSM194217 c.275A>T p.N92I Substitution - Missense 5:65614189-65614189 - TCGA-EE-A3J3-06 COSM3920270 c.520G>A p.E174K Substitution - Missense 5:65611728-65611728 - LS411 COSM194217 c.275A>T p.N92I Substitution - Missense 5:65614189-65614189 - TCGA-AP-A056-01 COSM1069369 c.185G>A p.R62H Substitution - Missense 5:65618152-65618152 - HCC81T COSM1620459 c.1629T>G p.I543M Substitution - Missense 5:65591865-65591865 - LC_C25 COSM1186774 c.1211A>G p.E404G Substitution - Missense 5:65597149-65597149 - TCGA-BS-A0UV-01 COSM1069359 c.1645C>T p.R549* Substitution - Nonsense 5:65591849-65591849 - B15-Tumor COSM254996 c.686C>T p.S229L Substitution - Missense 5:65611003-65611003 - I2L-P19Ta-Tumor-Organoid COSM5356589 c.440G>A p.C147Y Substitution - Missense 5:65611808-65611808 - B101 COSM254995 c.445G>A p.E149K Substitution - Missense 5:65611803-65611803 - T3091 COSM4735976 c.1363G>T p.V455L Substitution - Missense 5:65596478-65596478 - TCGA-E2-A159-01 COSM449966 c.1417C>G p.Q473E Substitution - Missense 5:65596424-65596424 - CSCC-11-T COSM4470853 c.1685C>T p.S562L Substitution - Missense 5:65591809-65591809 - TCGA-C8-A26Y-01 COSM3828287 c.1287C>T p.F429F Substitution - coding silent 5:65597073-65597073 - ESO-1608 COSM1268518 c.610G>A p.V204I Substitution - Missense 5:65611638-65611638 - TCGA-29-1774-01 COSM1328725 c.1310G>T p.G437V Substitution - Missense 5:65596531-65596531 - T3064 COSM4735981 c.275delA p.N92fs*69 Deletion - Frameshift 5:65614189-65614189 - T3535 COSM264189 c.276T>A p.N92K Substitution - Missense 5:65614188-65614188 - TCGA-AX-A064-01 COSM1069358 c.1646G>A p.R549Q Substitution - Missense 5:65591848-65591848 - TCGA-F5-6861-01 COSM3429561 c.1227G>A p.T409T Substitution - coding silent 5:65597133-65597133 - TCGA-B0-5092-01 COSM482958 c.1222G>A p.V408I Substitution - Missense 5:65597138-65597138 - YUKSI COSM3617473 c.210C>T p.I70I Substitution - coding silent 5:65618127-65618127 - TCGA-AP-A0LM-01 COSM1069357 c.1688G>A p.R563Q Substitution - Missense 5:65591806-65591806 - T3174 COSM4735981 c.275delA p.N92fs*69 Deletion - Frameshift 5:65614189-65614189 - NCI-H2122 COSM14300 c.552T>C p.H184H Substitution - coding silent 5:65611696-65611696 - TCGA-06-0219 COSM2150966 c.1655T>C p.M552T Substitution - Missense 5:65591839-65591839 - sysucc-1317T COSM1069360 c.1615C>A p.R539S Substitution - Missense 5:65591879-65591879 - TCGA-06-0219-01 COSM2150966 c.1655T>C p.M552T Substitution - Missense 5:65591839-65591839 - TCGA-CU-A0YO-01 COSM420664 c.680G>T p.R227L Substitution - Missense 5:65611009-65611009 - TCGA-C5-A1BQ-01 COSM4842601 c.1516G>T p.A506S Substitution - Missense 5:65594550-65594550 - ESO-189 COSM1268519 c.10C>T p.L4L Substitution - coding silent 5:65624265-65624265 - TCGA-70-6723-01 COSM738379 c.839C>T p.T280I Substitution - Missense 5:65609448-65609448 - TCGA-AP-A0LM-01 COSM1069364 c.714G>A p.R238R Substitution - coding silent 5:65610975-65610975 - PD4955a COSM5785105 c.715A>C p.T239P Substitution - Missense 5:65610974-65610974 - S02334 COSM4387041 c.1217G>A p.R406Q Substitution - Missense 5:65597143-65597143 - TCGA-GC-A3I6-01 COSM1311266 c.1192C>G p.H398D Substitution - Missense 5:65597168-65597168 - TCGA-63-6202-01 COSM738378 c.218C>T p.P73L Substitution - Missense 5:65618119-65618119 - NCI-H2122 COSM14300 c.552T>C p.H184H Substitution - coding silent 5:65611696-65611696 - TCGA-66-2787-01 COSM738380 c.844G>A p.E282K Substitution - Missense 5:65609443-65609443 - SNU-175 COSM3346184 c.1615C>T p.R539C Substitution - Missense 5:65591879-65591879 - Au1 COSM5597754 c.536C>T p.S179F Substitution - Missense 5:65611712-65611712 - SWE-44 COSM1180052 c.1088T>G p.L363* Substitution - Nonsense 5:65605002-65605002 - TCGA-AX-A0J0-01 COSM1069363 c.950A>C p.K317T Substitution - Missense 5:65609337-65609337 - TCGA-D1-A17Q-01 COSM1069358 c.1646G>A p.R549Q Substitution - Missense 5:65591848-65591848 - HCT15 COSM3346206 c.501T>A p.P167P Substitution - coding silent 5:65611747-65611747 - TCGA-A5-A0GB-01 COSM1069362 c.1018C>A p.L340I Substitution - Missense 5:65609269-65609269 - C086 COSM5540795 c.678C>T p.I226I Substitution - coding silent 5:65611011-65611011 - sysucc-1397T COSM5302423 c.1421-8T>G p.? Unknown 5:65594653-65594653 - 61 COSM5737245 c.605G>A p.C202Y Substitution - Missense 5:65611643-65611643 - TCGA-23-1118-01 COSM81836 c.1326T>C p.T442T Substitution - coding silent 5:65596515-65596515 - TCGA-D9-A1JW-06 COSM3617471 c.792C>T p.I264I Substitution - coding silent 5:65610897-65610897 - tumor_4190784 COSM5949831 c.853C>T p.R285W Substitution - Missense 5:65609434-65609434 - HCC126 COSM3661876 c.709A>G p.I237V Substitution - Missense 5:65610980-65610980 - HCT8 COSM3346206 c.501T>A p.P167P Substitution - coding silent 5:65611747-65611747 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.792 5q12.3 601747 2409989|CGAP|BC022510|A/G|non-coding||3461|Validated; 1509282|dbSNP|BC022510|C/T|non-coding||2800|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.M552T c.1655T>C 5 64887666 GBM A G Synonymous p.T442T c.1326T>C 5 64892342 OV A G Synonymous p.T527T c.1581T>C 5 64887740 STAD A - IntronicDeletion . c.1421-17delT 5 64890489 STAD - A IntronicInsertion . c.1421-17dupT 5 64890490 STAD C A Missense p.R227L c.680G>T 5 64906836 BLCA C A Missense p.W320L c.959G>T 5 64905155 BRCA C G Missense p.E149Q c.445G>C 5 64907630 RCCC C G Missense p.V78L c.232G>C 5 64913932 BRCA C T Missense p.E174K c.520G>A 5 64907555 CM C T Missense p.E282K c.844G>A 5 64905270 LUSC C T Missense p.G42R c.124G>A 5 64914040 CM C T Missense p.R549Q c.1646G>A 5 64887675 UCEC C T Missense p.V204I c.610G>A 5 64907465 ESCA C T Missense p.V408I c.1222G>A 5 64892965 RCCC G A 3-UTRSNV . c.1722+1408C>T 5 64886191 DLBCL G A Missense p.P388S c.1162C>T 5 64900755 CM G A Missense p.P73L c.218C>T 5 64913946 LUSC G A Missense p.S229L c.686C>T 5 64906830 CLL G A Missense p.T280I c.839C>T 5 64905275 LUSC G A Nonsense p.R101* c.301C>T 5 64909990 OV G A Synonymous p.I264I c.792C>T 5 64906724 CM G C Missense p.A24G c.71C>G 5 64920031 LUAD G C Missense p.H214D c.640C>G 5 64907435 BRCA G C Missense p.H398D c.1192C>G 5 64892995 BLCA G C Missense p.L507V c.1519C>G 5 64890374 LUAD G C Missense p.Q473E c.1417C>G 5 64892251 BRCA G C Nonsense p.S245* c.734C>G 5 64906782 HNSC G T 3-UTRSNV . c.1722+1521C>A 5 64886078 CM G T 3-UTRSNV . c.1722+1545C>A 5 64886054 CM G T Missense p.L340I c.1018C>A 5 64905096 UCEC G T Missense p.R539S c.1615C>A 5 64887706 UCEC T A Missense p.N92I c.275A>T 5 64910016 STAD T A Missense p.N92I c.275A>T 5 64910016 UCEC T C Missense p.E304G c.911A>G 5 64905203 OV T G Missense p.E444A c.1331A>C 5 64892337 OV