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 4 120182880 120182880 + Missense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr4:120182880G>T c.833G>T c.(832-834)aGa>aTa p.R278I BLCA 4 120169949 120169949 + Nonsense_Mutation SNP C C G TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr4:120169949C>G c.284C>G c.(283-285)tCa>tGa p.S95* BLCA 4 120180985 120180985 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr4:120180985G>A c.580G>A c.(580-582)Gaa>Aaa p.E194K BLCA 4 120181672 120181672 + Missense_Mutation SNP G G A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr4:120181672G>A c.686G>A c.(685-687)gGc>gAc p.G229D BLCA 4 120181689 120181689 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:120181689C>T c.703C>T c.(703-705)Cgc>Tgc p.R235C BLCA 4 120181753 120181753 + Missense_Mutation SNP C C G TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr4:120181753C>G c.767C>G c.(766-768)tCt>tGt p.S256C BLCA 4 120182879 120182879 + Missense_Mutation SNP A A G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr4:120182879A>G c.832A>G c.(832-834)Aga>Gga p.R278G BLCA 4 120192484 120192484 + Missense_Mutation SNP C C G TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr4:120192484C>G c.1469C>G c.(1468-1470)tCt>tGt p.S490C BLCA 4 120192858 120192858 + Missense_Mutation SNP A A T TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr4:120192858A>T c.1843A>T c.(1843-1845)Aat>Tat p.N615Y BLCA 4 120193094 120193094 + Silent SNP C C T TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr4:120193094C>T c.2079C>T c.(2077-2079)caC>caT p.H693H BLCA 4 120194837 120194837 + Missense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr4:120194837C>G c.2225C>G c.(2224-2226)tCc>tGc p.S742C BLCA 4 120213550 120213550 + Silent SNP C C A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr4:120213550C>A c.2406C>A c.(2404-2406)ccC>ccA p.P802P BRCA 4 120181041 120181041 + Silent SNP A A G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr4:120181041A>G c.636A>G c.(634-636)ctA>ctG p.L212L BRCA 4 120190905 120190905 + Missense_Mutation SNP C C G TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr4:120190905C>G c.1348C>G c.(1348-1350)Ctg>Gtg p.L450V BRCA 4 120192520 120192520 + Missense_Mutation SNP A A G TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 g.chr4:120192520A>G c.1505A>G c.(1504-1506)cAt>cGt p.H502R BRCA 4 120192984 120192984 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:120192984G>T c.1969G>T c.(1969-1971)Gaa>Taa p.E657* BRCA 4 120193097 120193097 + Silent SNP C C T TCGA-AR-A24N-01A-11D-A167-09 TCGA-AR-A24N-10A-01D-A167-09 g.chr4:120193097C>T c.2082C>T c.(2080-2082)atC>atT p.I694I BRCA 4 120213506 120213506 + Missense_Mutation SNP G G A TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr4:120213506G>A c.2362G>A c.(2362-2364)Gaa>Aaa p.E788K BRCA 4 120213924 120213924 + Missense_Mutation SNP A A T TCGA-D8-A1Y0-01A-11D-A14K-09 TCGA-D8-A1Y0-10A-01D-A14K-09 g.chr4:120213924A>T c.2780A>T c.(2779-2781)aAg>aTg p.K927M CESC 4 120169975 120169975 + Missense_Mutation SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr4:120169975G>A c.310G>A c.(310-312)Gaa>Aaa p.E104K CESC 4 120188514 120188514 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr4:120188514C>T c.1012C>T c.(1012-1014)Cga>Tga p.R338* CESC 4 120192585 120192585 + Nonsense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr4:120192585C>T c.1570C>T c.(1570-1572)Cag>Tag p.Q524* CESC 4 120192932 120192932 + Missense_Mutation SNP G G A TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr4:120192932G>A c.1917G>A c.(1915-1917)atG>atA p.M639I COAD 4 120169912 120169912 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:120169912G>A c.247G>A c.(247-249)Gca>Aca p.A83T COAD 4 120182906 120182906 + Missense_Mutation SNP A A G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr4:120182906A>G c.859A>G c.(859-861)Agt>Ggt p.S287G COAD 4 120182997 120182997 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:120182997T>C c.950T>C c.(949-951)tTt>tCt p.F317S COAD 4 120182998 120182998 + Silent SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr4:120182998T>C c.951T>C c.(949-951)ttT>ttC p.F317F COAD 4 120188515 120188515 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:120188515G>A c.1013G>A c.(1012-1014)cGa>cAa p.R338Q COAD 4 120188538 120188538 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:120188538T>C c.1036T>C c.(1036-1038)Ttg>Ctg p.L346L COAD 4 120189480 120189480 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:120189480A>G c.1193A>G c.(1192-1194)gAt>gGt p.D398G COAD 4 120189480 120189480 + Missense_Mutation SNP A A G TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr4:120189480A>G c.1193A>G c.(1192-1194)gAt>gGt p.D398G COAD 4 120189481 120189481 + Silent SNP T T C TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr4:120189481T>C c.1194T>C c.(1192-1194)gaT>gaC p.D398D COAD 4 120192533 120192533 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr4:120192533T>C c.1518T>C c.(1516-1518)caT>caC p.H506H COAD 4 120192649 120192649 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:120192649A>C c.1634A>C c.(1633-1635)aAa>aCa p.K545T COAD 4 120192801 120192801 + Missense_Mutation SNP A A G TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr4:120192801A>G c.1786A>G c.(1786-1788)Att>Gtt p.I596V COAD 4 120212331 120212331 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:120212331G>T c.2263G>T c.(2263-2265)Gaa>Taa p.E755* COAD 4 120213811 120213811 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:120213811T>C c.2667T>C c.(2665-2667)tgT>tgC p.C889C COAD 4 120213823 120213823 + Missense_Mutation SNP C C G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr4:120213823C>G c.2679C>G c.(2677-2679)aaC>aaG p.N893K COAD 4 120214292 120214292 + Missense_Mutation SNP A A G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr4:120214292A>G c.3148A>G c.(3148-3150)Aga>Gga p.R1050G COADREAD 4 120166520 120166520 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:120166520G>A c.173G>A c.(172-174)cGa>cAa p.R58Q COADREAD 4 120169912 120169912 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:120169912G>A c.247G>A c.(247-249)Gca>Aca p.A83T COADREAD 4 120182906 120182906 + Missense_Mutation SNP A A G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr4:120182906A>G c.859A>G c.(859-861)Agt>Ggt p.S287G COADREAD 4 120182997 120182997 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:120182997T>C c.950T>C c.(949-951)tTt>tCt p.F317S COADREAD 4 120182998 120182998 + Silent SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr4:120182998T>C c.951T>C c.(949-951)ttT>ttC p.F317F COADREAD 4 120188515 120188515 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:120188515G>A c.1013G>A c.(1012-1014)cGa>cAa p.R338Q COADREAD 4 120188538 120188538 + Silent SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:120188538T>C c.1036T>C c.(1036-1038)Ttg>Ctg p.L346L COADREAD 4 120189480 120189480 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:120189480A>G c.1193A>G c.(1192-1194)gAt>gGt p.D398G COADREAD 4 120189480 120189480 + Missense_Mutation SNP A A G TCGA-DM-A1D0-01A-11D-A152-10 TCGA-DM-A1D0-10A-01D-A152-10 g.chr4:120189480A>G c.1193A>G c.(1192-1194)gAt>gGt p.D398G COADREAD 4 120189481 120189481 + Silent SNP T T C TCGA-DM-A28E-01A-11D-A16V-10 TCGA-DM-A28E-10A-01D-A16V-10 g.chr4:120189481T>C c.1194T>C c.(1192-1194)gaT>gaC p.D398D COADREAD 4 120192533 120192533 + Silent SNP T T C TCGA-D5-6541-01A-11D-1719-10 TCGA-D5-6541-10A-01D-1719-10 g.chr4:120192533T>C c.1518T>C c.(1516-1518)caT>caC p.H506H COADREAD 4 120192649 120192649 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:120192649A>C c.1634A>C c.(1633-1635)aAa>aCa p.K545T COADREAD 4 120192801 120192801 + Missense_Mutation SNP A A G TCGA-AA-3812-01A-01W-0900-09 TCGA-AA-3812-10A-01W-0900-09 g.chr4:120192801A>G c.1786A>G c.(1786-1788)Att>Gtt p.I596V COADREAD 4 120212331 120212331 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:120212331G>T c.2263G>T c.(2263-2265)Gaa>Taa p.E755* COADREAD 4 120213811 120213811 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:120213811T>C c.2667T>C c.(2665-2667)tgT>tgC p.C889C COADREAD 4 120213823 120213823 + Missense_Mutation SNP C C G TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr4:120213823C>G c.2679C>G c.(2677-2679)aaC>aaG p.N893K COADREAD 4 120214292 120214292 + Missense_Mutation SNP A A G TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr4:120214292A>G c.3148A>G c.(3148-3150)Aga>Gga p.R1050G ESCA 4 120192515 120192515 + Silent SNP A A G TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr4:120192515A>G c.1500A>G c.(1498-1500)aaA>aaG p.K500K ESCA 4 120213663 120213663 + Missense_Mutation SNP G G T TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr4:120213663G>T c.2519G>T c.(2518-2520)gGt>gTt p.G840V GBM 4 120213685 120213686 + Frame_Shift_Del DEL CT CT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr4:120213685_120213686delCT c.2541_2542delCT c.(2539-2544)aactctfs p.S848fs GBMLGG 4 120177653 120177653 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:120177653C>T c.544C>T c.(544-546)Cgg>Tgg p.R182W GBMLGG 4 120181736 120181736 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:120181736C>A c.750C>A c.(748-750)gtC>gtA p.V250V GBMLGG 4 120192691 120192691 + Missense_Mutation SNP A A G TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr4:120192691A>G c.1676A>G c.(1675-1677)gAc>gGc p.D559G GBMLGG 4 120193028 120193028 + Missense_Mutation SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 g.chr4:120193028G>C c.2013G>C c.(2011-2013)gaG>gaC p.E671D GBMLGG 4 120213685 120213686 + Frame_Shift_Del DEL CT CT - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr4:120213685_120213686delCT c.2541_2542delCT c.(2539-2544)aactctfs p.S848fs GBMLGG 4 120214081 120214081 + Missense_Mutation SNP T T A TCGA-CS-6665-01A-11D-1893-08 TCGA-CS-6665-10A-01D-1893-08 g.chr4:120214081T>A c.2937T>A c.(2935-2937)gaT>gaA p.D979E HNSC 4 120169904 120169904 + Splice_Site SNP C C T TCGA-QK-A6IG-01A-11D-A31L-08 TCGA-QK-A6IG-10A-01D-A31J-08 g.chr4:120169904C>T c.239C>T c.(238-240)aCg>aTg p.T80M HNSC 4 120169908 120169908 + Missense_Mutation SNP A A G TCGA-D6-6824-01A-11D-1912-08 TCGA-D6-6824-10A-01D-1912-08 g.chr4:120169908A>G c.243A>G c.(241-243)atA>atG p.I81M HNSC 4 120177469 120177469 + Silent SNP A A G TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr4:120177469A>G c.441A>G c.(439-441)aaA>aaG p.K147K HNSC 4 120188600 120188600 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr4:120188600C>T c.1098C>T c.(1096-1098)atC>atT p.I366I HNSC 4 120190941 120190941 + Nonsense_Mutation SNP C C T TCGA-CV-A45Y-01A-11D-A25D-08 TCGA-CV-A45Y-10A-01D-A25E-08 g.chr4:120190941C>T c.1384C>T c.(1384-1386)Caa>Taa p.Q462* HNSC 4 120190943 120190943 + Silent SNP A A G TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr4:120190943A>G c.1386A>G c.(1384-1386)caA>caG p.Q462Q HNSC 4 120193113 120193113 + Missense_Mutation SNP A A T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr4:120193113A>T c.2098A>T c.(2098-2100)Aat>Tat p.N700Y HNSC 4 120193152 120193152 + Missense_Mutation SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chr4:120193152A>G c.2137A>G c.(2137-2139)Atg>Gtg p.M713V HNSC 4 120194844 120194844 + Silent SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr4:120194844G>A c.2232G>A c.(2230-2232)caG>caA p.Q744Q HNSC 4 120213687 120213687 + Missense_Mutation SNP C C G TCGA-CR-6474-01A-11D-1870-08 TCGA-CR-6474-10A-01D-1870-08 g.chr4:120213687C>G c.2543C>G c.(2542-2544)tCt>tGt p.S848C HNSC 4 120213723 120213723 + Missense_Mutation SNP C C T TCGA-CV-5977-01A-11D-1683-08 TCGA-CV-5977-11A-01D-1683-08 g.chr4:120213723C>T c.2579C>T c.(2578-2580)tCt>tTt p.S860F KIPAN 4 120182905 120182905 + Silent SNP T T C TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr4:120182905T>C c.858T>C c.(856-858)aaT>aaC p.N286N KIPAN 4 120189437 120189437 + Missense_Mutation SNP G G A TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr4:120189437G>A c.1150G>A c.(1150-1152)Gta>Ata p.V384I KIPAN 4 120190931 120190931 + Silent SNP A A G TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr4:120190931A>G c.1374A>G c.(1372-1374)ttA>ttG p.L458L KIPAN 4 120192821 120192821 + Missense_Mutation SNP A A C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr4:120192821A>C c.1806A>C c.(1804-1806)aaA>aaC p.K602N KIRC 4 120182905 120182905 + Silent SNP T T C TCGA-BP-5173-01A-01D-1429-08 TCGA-BP-5173-11A-01D-1429-08 g.chr4:120182905T>C c.858T>C c.(856-858)aaT>aaC p.N286N KIRC 4 120192821 120192821 + Missense_Mutation SNP A A C TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr4:120192821A>C c.1806A>C c.(1804-1806)aaA>aaC p.K602N KIRP 4 120189437 120189437 + Missense_Mutation SNP G G A TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr4:120189437G>A c.1150G>A c.(1150-1152)Gta>Ata p.V384I KIRP 4 120190931 120190931 + Silent SNP A A G TCGA-GL-A9DD-01A-11D-A36X-10 TCGA-GL-A9DD-10A-01D-A370-10 g.chr4:120190931A>G c.1374A>G c.(1372-1374)ttA>ttG p.L458L LGG 4 120177653 120177653 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:120177653C>T c.544C>T c.(544-546)Cgg>Tgg p.R182W LGG 4 120181736 120181736 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:120181736C>A c.750C>A c.(748-750)gtC>gtA p.V250V LGG 4 120192691 120192691 + Missense_Mutation SNP A A G TCGA-DB-A64V-01A-11D-A29Q-08 TCGA-DB-A64V-10A-01D-A29Q-08 g.chr4:120192691A>G c.1676A>G c.(1675-1677)gAc>gGc p.D559G LGG 4 120193028 120193028 + Missense_Mutation SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 g.chr4:120193028G>C c.2013G>C c.(2011-2013)gaG>gaC p.E671D LGG 4 120214081 120214081 + Missense_Mutation SNP T T A TCGA-CS-6665-01A-11D-1893-08 TCGA-CS-6665-10A-01D-1893-08 g.chr4:120214081T>A c.2937T>A c.(2935-2937)gaT>gaA p.D979E LIHC 4 120182988 120182988 + Missense_Mutation SNP G G T TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr4:120182988G>T c.941G>T c.(940-942)tGg>tTg p.W314L LIHC 4 120188512 120188512 + Missense_Mutation SNP T T C TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr4:120188512T>C c.1010T>C c.(1009-1011)aTt>aCt p.I337T LIHC 4 120189490 120189490 + Silent SNP G G A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr4:120189490G>A c.1203G>A c.(1201-1203)aaG>aaA p.K401K LIHC 4 120192499 120192499 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr4:120192499delC c.1484delC c.(1483-1485)gccfs p.A495fs LIHC 4 120192951 120192951 + Missense_Mutation SNP A A T TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr4:120192951A>T c.1936A>T c.(1936-1938)Atg>Ttg p.M646L LUAD 4 120160999 120160999 + Missense_Mutation SNP A A G TCGA-55-8505-01A-11D-2393-08 TCGA-55-8505-10A-01D-2393-08 g.chr4:120160999A>G c.85A>G c.(85-87)Acc>Gcc p.T29A LUAD 4 120166510 120166510 + Missense_Mutation SNP A A G TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr4:120166510A>G c.163A>G c.(163-165)Ata>Gta p.I55V LUAD 4 120170028 120170028 + Silent SNP G G C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr4:120170028G>C c.363G>C c.(361-363)gcG>gcC p.A121A LUAD 4 120170029 120170029 + Nonsense_Mutation SNP G G T TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr4:120170029G>T c.364G>T c.(364-366)Gag>Tag p.E122* LUAD 4 120188591 120188591 + Missense_Mutation SNP G G T TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr4:120188591G>T c.1089G>T c.(1087-1089)agG>agT p.R363S LUAD 4 120188592 120188592 + Nonsense_Mutation SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr4:120188592C>T c.1090C>T c.(1090-1092)Cag>Tag p.Q364* LUAD 4 120188600 120188600 + Silent SNP C C T TCGA-86-8281-01A-11D-2284-08 TCGA-86-8281-10A-01D-2284-08 g.chr4:120188600C>T c.1098C>T c.(1096-1098)atC>atT p.I366I LUAD 4 120190864 120190864 + Missense_Mutation SNP A A T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr4:120190864A>T c.1307A>T c.(1306-1308)gAt>gTt p.D436V LUAD 4 120190866 120190866 + Missense_Mutation SNP C C G TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr4:120190866C>G c.1309C>G c.(1309-1311)Caa>Gaa p.Q437E LUAD 4 120192459 120192459 + Missense_Mutation SNP G G T TCGA-69-8253-01A-11D-2284-08 TCGA-69-8253-10A-01D-2284-08 g.chr4:120192459G>T c.1444G>T c.(1444-1446)Gat>Tat p.D482Y LUAD 4 120213653 120213653 + Missense_Mutation SNP G G A TCGA-17-Z014-01A-01W-0746-08 TCGA-17-Z014-11A-01W-0746-08 g.chr4:120213653G>A c.2509G>A c.(2509-2511)Gag>Aag p.E837K LUAD 4 120213799 120213799 + Missense_Mutation SNP C C G TCGA-49-6742-01A-11D-1855-08 TCGA-49-6742-11A-01D-1855-08 g.chr4:120213799C>G c.2655C>G c.(2653-2655)atC>atG p.I885M LUSC 4 120192475 120192475 + Missense_Mutation SNP A A T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr4:120192475A>T c.1460A>T c.(1459-1461)cAt>cTt p.H487L OV 4 120189479 120189479 + Missense_Mutation SNP G G C TCGA-13-1498-01A-01W-0549-09 TCGA-13-1498-10A-01W-0549-09 g.chr4:120189479G>C c.1192G>C c.(1192-1194)Gat>Cat p.D398H OV 4 120189534 120189534 + Missense_Mutation SNP C C G TCGA-29-1696-01A-01W-0633-09 TCGA-29-1696-10A-01W-0633-09 g.chr4:120189534C>G c.1247C>G c.(1246-1248)tCt>tGt p.S416C PAAD 4 120177606 120177606 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:120177606G>A c.497G>A c.(496-498)cGt>cAt p.R166H PAAD 4 120190845 120190845 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:120190845G>A c.e15-1 PAAD 4 120214304 120214304 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr4:120214304C>A c.3160C>A c.(3160-3162)Cat>Aat p.H1054N PRAD 4 120192824 120192824 + Missense_Mutation SNP A A T TCGA-YL-A9WK-01A-11D-A377-08 TCGA-YL-A9WK-10A-01D-A37A-08 g.chr4:120192824A>T c.1809A>T c.(1807-1809)agA>agT p.R603S PRAD 4 120214179 120214179 + Missense_Mutation SNP G G T TCGA-J9-A8CM-01A-11D-A34U-08 TCGA-J9-A8CM-10A-01D-A34X-08 g.chr4:120214179G>T c.3035G>T c.(3034-3036)gGt>gTt p.G1012V READ 4 120166520 120166520 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:120166520G>A c.173G>A c.(172-174)cGa>cAa p.R58Q SKCM 4 120166520 120166520 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr4:120166520G>T c.173G>T c.(172-174)cGa>cTa p.R58L SKCM 4 120177660 120177660 + Missense_Mutation SNP T T A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr4:120177660T>A c.551T>A c.(550-552)aTt>aAt p.I184N SKCM 4 120182982 120182982 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr4:120182982C>T c.935C>T c.(934-936)tCc>tTc p.S312F SKCM 4 120189539 120189539 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr4:120189539C>T c.1252C>T c.(1252-1254)Cgg>Tgg p.R418W SKCM 4 120190984 120190984 + Missense_Mutation SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr4:120190984G>A c.1427G>A c.(1426-1428)cGa>cAa p.R476Q SKCM 4 120192591 120192591 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:120192591C>T c.1576C>T c.(1576-1578)Cga>Tga p.R526* SKCM 4 120192649 120192649 + Missense_Mutation SNP A A T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr4:120192649A>T c.1634A>T c.(1633-1635)aAa>aTa p.K545I SKCM 4 120193171 120193171 + Missense_Mutation SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:120193171A>G c.2156A>G c.(2155-2157)aAa>aGa p.K719R SKCM 4 120193172 120193172 + Silent SNP A A G TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:120193172A>G c.2157A>G c.(2155-2157)aaA>aaG p.K719K SKCM 4 120193177 120193177 + Missense_Mutation SNP C C A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr4:120193177C>A c.2162C>A c.(2161-2163)aCa>aAa p.T721K SKCM 4 120194808 120194808 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr4:120194808C>T c.2196C>T c.(2194-2196)aaC>aaT p.N732N SKCM 4 120194809 120194809 + Silent SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr4:120194809C>T c.2197C>T c.(2197-2199)Cta>Tta p.L733L SKCM 4 120214168 120214168 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr4:120214168G>A c.3024G>A c.(3022-3024)caG>caA p.Q1008Q

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 4 120192722 120192722 single base substitution A T 3_prime_UTR_variant BLCA-CN 4 120192722 120192722 single base substitution A T downstream_gene_variant BLCA-CN 4 120192722 120192722 single base substitution A T exon_variant BLCA-CN 4 120192722 120192722 single base substitution A T missense_variant R569S 1707A>T BLCA-CN 4 120213651 120213651 single base substitution C G 3_prime_UTR_variant BLCA-CN 4 120213651 120213651 single base substitution C G missense_variant S836C 2507C>G BLCA-US 4 120181753 120181753 single base substitution C G exon_variant BLCA-US 4 120181753 120181753 single base substitution C G missense_variant S256C 767C>G BLCA-US 4 120181753 120181753 single base substitution C G upstream_gene_variant BOCA-UK 4 120189515 120189515 single base substitution A G 3_prime_UTR_variant BOCA-UK 4 120189515 120189515 single base substitution A G exon_variant BOCA-UK 4 120189515 120189515 single base substitution A G missense_variant T410A 1228A>G BRCA-EU 4 120128787 120128787 single base substitution T G upstream_gene_variant BRCA-EU 4 120132683 120132683 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 120133784 120133784 single base substitution C A exon_variant BRCA-EU 4 120133784 120133784 single base substitution C A upstream_gene_variant BRCA-EU 4 120136663 120136663 single base substitution C A intron_variant BRCA-EU 4 120137272 120137272 single base substitution C T intron_variant BRCA-EU 4 120139865 120139865 single base substitution A G exon_variant BRCA-EU 4 120139865 120139865 single base substitution A G intron_variant BRCA-EU 4 120140844 120140844 single base substitution C G exon_variant BRCA-EU 4 120140844 120140844 single base substitution C G intron_variant BRCA-EU 4 120141078 120141079 deletion of <=200bp TC - exon_variant BRCA-EU 4 120141078 120141079 deletion of <=200bp TC - intron_variant BRCA-EU 4 120141093 120141093 single base substitution C T exon_variant BRCA-EU 4 120141093 120141093 single base substitution C T intron_variant BRCA-EU 4 120141101 120141101 single base substitution C G exon_variant BRCA-EU 4 120141101 120141101 single base substitution C G intron_variant BRCA-EU 4 120142745 120142745 single base substitution G T downstream_gene_variant BRCA-EU 4 120142745 120142745 single base substitution G T intron_variant BRCA-EU 4 120143146 120143146 single base substitution C G downstream_gene_variant BRCA-EU 4 120143146 120143146 single base substitution C G intron_variant BRCA-EU 4 120148015 120148015 single base substitution C G intron_variant BRCA-EU 4 120148774 120148774 single base substitution A C intron_variant BRCA-EU 4 120150552 120150552 single base substitution C T intron_variant BRCA-EU 4 120153067 120153067 single base substitution A C intron_variant BRCA-EU 4 120153186 120153186 single base substitution C T intron_variant BRCA-EU 4 120154565 120154565 single base substitution C G intron_variant BRCA-EU 4 120155530 120155530 insertion of <=200bp - A intron_variant BRCA-EU 4 120155530 120155530 insertion of <=200bp - A upstream_gene_variant BRCA-EU 4 120158570 120158570 single base substitution C A intron_variant BRCA-EU 4 120158570 120158570 single base substitution C A upstream_gene_variant BRCA-EU 4 120159998 120159998 single base substitution T G intron_variant BRCA-EU 4 120159998 120159998 single base substitution T G upstream_gene_variant BRCA-EU 4 120160604 120160604 deletion of <=200bp A - 5_prime_UTR_variant BRCA-EU 4 120160604 120160604 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 120160604 120160604 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 120160783 120160783 single base substitution C G 5_prime_UTR_variant BRCA-EU 4 120160783 120160783 single base substitution C G downstream_gene_variant BRCA-EU 4 120160783 120160783 single base substitution C G upstream_gene_variant BRCA-EU 4 120161634 120161634 single base substitution G C downstream_gene_variant BRCA-EU 4 120161634 120161634 single base substitution G C intron_variant BRCA-EU 4 120162397 120162397 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 120162397 120162397 insertion of <=200bp - T intron_variant BRCA-EU 4 120162686 120162686 single base substitution A G downstream_gene_variant BRCA-EU 4 120162686 120162686 single base substitution A G intron_variant BRCA-EU 4 120162745 120162745 single base substitution T C downstream_gene_variant BRCA-EU 4 120162745 120162745 single base substitution T C intron_variant BRCA-EU 4 120163217 120163217 single base substitution G C downstream_gene_variant BRCA-EU 4 120163217 120163217 single base substitution G C intron_variant BRCA-EU 4 120163362 120163362 insertion of <=200bp - TTG downstream_gene_variant BRCA-EU 4 120163362 120163362 insertion of <=200bp - TTG intron_variant BRCA-EU 4 120164315 120164315 single base substitution A C downstream_gene_variant BRCA-EU 4 120164315 120164315 single base substitution A C intron_variant BRCA-EU 4 120164523 120164523 single base substitution G A downstream_gene_variant BRCA-EU 4 120164523 120164523 single base substitution G A intron_variant BRCA-EU 4 120165353 120165353 single base substitution C G downstream_gene_variant BRCA-EU 4 120165353 120165353 single base substitution C G intron_variant BRCA-EU 4 120166018 120166018 single base substitution C A intron_variant BRCA-EU 4 120167268 120167268 single base substitution T C intron_variant BRCA-EU 4 120168361 120168361 single base substitution C T intron_variant BRCA-EU 4 120168705 120168705 single base substitution C G intron_variant BRCA-EU 4 120171413 120171413 single base substitution C G intron_variant BRCA-EU 4 120171991 120171991 single base substitution G A intron_variant BRCA-EU 4 120172395 120172395 insertion of <=200bp - T intron_variant BRCA-EU 4 120173804 120173807 deletion of <=200bp GTCT - intron_variant BRCA-EU 4 120174541 120174541 single base substitution T C intron_variant BRCA-EU 4 120174598 120174598 single base substitution A G intron_variant BRCA-EU 4 120175172 120175172 single base substitution C G intron_variant BRCA-EU 4 120176651 120176651 single base substitution G A intron_variant BRCA-EU 4 120177025 120177025 single base substitution C T intron_variant BRCA-EU 4 120178514 120178514 single base substitution G C intron_variant BRCA-EU 4 120178514 120178514 single base substitution G C upstream_gene_variant BRCA-EU 4 120178968 120178968 insertion of <=200bp - T intron_variant BRCA-EU 4 120178968 120178968 insertion of <=200bp - T upstream_gene_variant BRCA-EU 4 120179076 120179079 deletion of <=200bp TGAG - intron_variant BRCA-EU 4 120179076 120179079 deletion of <=200bp TGAG - upstream_gene_variant BRCA-EU 4 120180207 120180207 single base substitution G T intron_variant BRCA-EU 4 120180207 120180207 single base substitution G T upstream_gene_variant BRCA-EU 4 120180773 120180773 single base substitution G C intron_variant BRCA-EU 4 120180773 120180773 single base substitution G C upstream_gene_variant BRCA-EU 4 120182562 120182562 single base substitution A T intron_variant BRCA-EU 4 120182562 120182562 single base substitution A T upstream_gene_variant BRCA-EU 4 120185881 120185881 deletion of <=200bp A - intron_variant BRCA-EU 4 120185881 120185881 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 120186967 120186967 deletion of <=200bp A - intron_variant BRCA-EU 4 120186967 120186967 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 120189163 120189163 single base substitution A C intron_variant BRCA-EU 4 120191286 120191286 single base substitution C G intron_variant BRCA-EU 4 120191504 120191504 single base substitution C G intron_variant BRCA-EU 4 120193815 120193815 single base substitution C A downstream_gene_variant BRCA-EU 4 120193815 120193815 single base substitution C A exon_variant BRCA-EU 4 120193815 120193815 single base substitution C A intron_variant BRCA-EU 4 120193985 120193985 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 120193985 120193985 deletion of <=200bp A - exon_variant BRCA-EU 4 120193985 120193985 deletion of <=200bp A - intron_variant BRCA-EU 4 120194656 120194656 single base substitution T C downstream_gene_variant BRCA-EU 4 120194656 120194656 single base substitution T C intron_variant BRCA-EU 4 120201835 120201835 single base substitution A T intron_variant BRCA-EU 4 120201879 120201879 single base substitution C G intron_variant BRCA-EU 4 120202708 120202708 single base substitution C T intron_variant BRCA-EU 4 120203125 120203125 single base substitution C A intron_variant BRCA-EU 4 120204844 120204844 single base substitution T C intron_variant BRCA-EU 4 120206064 120206065 deletion of <=200bp AG - intron_variant BRCA-EU 4 120206472 120206472 single base substitution A G intron_variant BRCA-EU 4 120207591 120207591 single base substitution C T intron_variant BRCA-EU 4 120208150 120208150 insertion of <=200bp - ATAGC intron_variant BRCA-EU 4 120208328 120208328 single base substitution T C intron_variant BRCA-EU 4 120209463 120209463 single base substitution C G intron_variant BRCA-EU 4 120209524 120209531 deletion of <=200bp TGTTGTGA - intron_variant BRCA-EU 4 120210549 120210549 single base substitution C G intron_variant BRCA-EU 4 120210992 120210992 single base substitution A G intron_variant BRCA-EU 4 120211898 120211898 insertion of <=200bp - TT intron_variant BRCA-EU 4 120212738 120212738 single base substitution T A intron_variant BRCA-EU 4 120214318 120214318 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 120214318 120214318 single base substitution G A synonymous_variant K1058K 3174G>A BRCA-EU 4 120216229 120216229 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 120216229 120216229 single base substitution G A downstream_gene_variant BRCA-EU 4 120216924 120216924 single base substitution C G downstream_gene_variant BRCA-EU 4 120217041 120217041 single base substitution C T downstream_gene_variant BRCA-EU 4 120219377 120219377 single base substitution C G downstream_gene_variant BRCA-EU 4 120220132 120220132 single base substitution C G downstream_gene_variant BRCA-EU 4 120220517 120220517 single base substitution G C downstream_gene_variant BRCA-EU 4 120221436 120221436 single base substitution G A downstream_gene_variant BRCA-EU 4 120221497 120221497 insertion of <=200bp - A downstream_gene_variant BRCA-FR 4 120128991 120128991 single base substitution C T upstream_gene_variant BRCA-FR 4 120140498 120140498 single base substitution C T exon_variant BRCA-FR 4 120140498 120140498 single base substitution C T intron_variant BRCA-FR 4 120143146 120143146 single base substitution C G downstream_gene_variant BRCA-FR 4 120143146 120143146 single base substitution C G intron_variant BRCA-FR 4 120153346 120153346 single base substitution A G intron_variant BRCA-FR 4 120153860 120153860 single base substitution C T intron_variant BRCA-FR 4 120164315 120164315 single base substitution A C downstream_gene_variant BRCA-FR 4 120164315 120164315 single base substitution A C intron_variant BRCA-FR 4 120178416 120178416 single base substitution G T intron_variant BRCA-FR 4 120178416 120178416 single base substitution G T upstream_gene_variant BRCA-FR 4 120179936 120179936 single base substitution C T intron_variant BRCA-FR 4 120179936 120179936 single base substitution C T upstream_gene_variant BRCA-FR 4 120201879 120201879 single base substitution C G intron_variant BRCA-FR 4 120202708 120202708 single base substitution C T intron_variant BRCA-FR 4 120206472 120206472 single base substitution A G intron_variant BRCA-UK 4 120150552 120150552 single base substitution C T intron_variant BRCA-UK 4 120174598 120174598 single base substitution A G intron_variant BRCA-UK 4 120177209 120177209 single base substitution C A intron_variant BRCA-UK 4 120181321 120181321 single base substitution G A intron_variant BRCA-UK 4 120181321 120181321 single base substitution G A upstream_gene_variant BRCA-UK 4 120210992 120210992 single base substitution A G intron_variant BRCA-UK 4 120212738 120212738 single base substitution T A intron_variant BRCA-US 4 120181041 120181041 single base substitution A G exon_variant BRCA-US 4 120181041 120181041 single base substitution A G synonymous_variant L212L 636A>G BRCA-US 4 120181041 120181041 single base substitution A G upstream_gene_variant BRCA-US 4 120190905 120190905 single base substitution C G 3_prime_UTR_variant BRCA-US 4 120190905 120190905 single base substitution C G exon_variant BRCA-US 4 120190905 120190905 single base substitution C G missense_variant L450V 1348C>G BRCA-US 4 120192520 120192520 single base substitution A G 3_prime_UTR_variant BRCA-US 4 120192520 120192520 single base substitution A G downstream_gene_variant BRCA-US 4 120192520 120192520 single base substitution A G exon_variant BRCA-US 4 120192520 120192520 single base substitution A G missense_variant H502R 1505A>G BRCA-US 4 120192984 120192984 single base substitution G T 3_prime_UTR_variant BRCA-US 4 120192984 120192984 single base substitution G T downstream_gene_variant BRCA-US 4 120192984 120192984 single base substitution G T exon_variant BRCA-US 4 120192984 120192984 single base substitution G T stop_gained E657* 1969G>T BRCA-US 4 120193097 120193097 single base substitution C T 3_prime_UTR_variant BRCA-US 4 120193097 120193097 single base substitution C T downstream_gene_variant BRCA-US 4 120193097 120193097 single base substitution C T exon_variant BRCA-US 4 120193097 120193097 single base substitution C T synonymous_variant I694I 2082C>T BRCA-US 4 120213506 120213506 single base substitution G A 3_prime_UTR_variant BRCA-US 4 120213506 120213506 single base substitution G A missense_variant E788K 2362G>A BRCA-US 4 120213924 120213924 single base substitution A T 3_prime_UTR_variant BRCA-US 4 120213924 120213924 single base substitution A T missense_variant K927M 2780A>T BRCA-US 4 120221638 120221638 single base substitution C G downstream_gene_variant BTCA-JP 4 120160926 120160926 single base substitution A G downstream_gene_variant BTCA-JP 4 120160926 120160926 single base substitution A G exon_variant BTCA-JP 4 120160926 120160926 single base substitution A G synonymous_variant V4V 12A>G BTCA-JP 4 120177623 120177623 single base substitution T C exon_variant BTCA-JP 4 120177623 120177623 single base substitution T C missense_variant S172P 514T>C BTCA-JP 4 120182846 120182846 single base substitution T C intron_variant BTCA-JP 4 120182846 120182846 single base substitution T C upstream_gene_variant BTCA-JP 4 120192723 120192723 single base substitution G T 3_prime_UTR_variant BTCA-JP 4 120192723 120192723 single base substitution G T downstream_gene_variant BTCA-JP 4 120192723 120192723 single base substitution G T exon_variant BTCA-JP 4 120192723 120192723 single base substitution G T stop_gained G570* 1708G>T BTCA-JP 4 120193162 120193162 single base substitution G C 3_prime_UTR_variant BTCA-JP 4 120193162 120193162 single base substitution G C downstream_gene_variant BTCA-JP 4 120193162 120193162 single base substitution G C exon_variant BTCA-JP 4 120193162 120193162 single base substitution G C missense_variant S716T 2147G>C BTCA-JP 4 120220091 120220091 single base substitution C A downstream_gene_variant CESC-US 4 120169975 120169975 single base substitution G A exon_variant CESC-US 4 120169975 120169975 single base substitution G A missense_variant E104K 310G>A CESC-US 4 120188514 120188514 single base substitution C T 3_prime_UTR_variant CESC-US 4 120188514 120188514 single base substitution C T exon_variant CESC-US 4 120188514 120188514 single base substitution C T stop_gained R338* 1012C>T CESC-US 4 120188514 120188514 single base substitution C T upstream_gene_variant CESC-US 4 120192585 120192585 single base substitution C T 3_prime_UTR_variant CESC-US 4 120192585 120192585 single base substitution C T downstream_gene_variant CESC-US 4 120192585 120192585 single base substitution C T exon_variant CESC-US 4 120192585 120192585 single base substitution C T stop_gained Q524* 1570C>T CESC-US 4 120192932 120192932 single base substitution G A 3_prime_UTR_variant CESC-US 4 120192932 120192932 single base substitution G A downstream_gene_variant CESC-US 4 120192932 120192932 single base substitution G A exon_variant CESC-US 4 120192932 120192932 single base substitution G A missense_variant M639I 1917G>A CESC-US 4 120219935 120219935 single base substitution C T downstream_gene_variant CLLE-ES 4 120139382 120139382 single base substitution A C exon_variant CLLE-ES 4 120139382 120139382 single base substitution A C intron_variant CLLE-ES 4 120139398 120139398 single base substitution A C exon_variant CLLE-ES 4 120139398 120139398 single base substitution A C intron_variant CLLE-ES 4 120142580 120142580 single base substitution C A downstream_gene_variant CLLE-ES 4 120142580 120142580 single base substitution C A exon_variant CLLE-ES 4 120142580 120142580 single base substitution C A intron_variant CLLE-ES 4 120159470 120159470 single base substitution C A intron_variant CLLE-ES 4 120159470 120159470 single base substitution C A upstream_gene_variant CLLE-ES 4 120162351 120162351 single base substitution A T downstream_gene_variant CLLE-ES 4 120162351 120162351 single base substitution A T intron_variant CLLE-ES 4 120169198 120169198 single base substitution T G intron_variant CLLE-ES 4 120173052 120173052 single base substitution G A intron_variant CLLE-ES 4 120179803 120179803 single base substitution C G intron_variant CLLE-ES 4 120179803 120179803 single base substitution C G upstream_gene_variant CLLE-ES 4 120192638 120192638 single base substitution T C 3_prime_UTR_variant CLLE-ES 4 120192638 120192638 single base substitution T C downstream_gene_variant CLLE-ES 4 120192638 120192638 single base substitution T C exon_variant CLLE-ES 4 120192638 120192638 single base substitution T C synonymous_variant A541A 1623T>C CLLE-ES 4 120192754 120192754 single base substitution G A 3_prime_UTR_variant CLLE-ES 4 120192754 120192754 single base substitution G A downstream_gene_variant CLLE-ES 4 120192754 120192754 single base substitution G A exon_variant CLLE-ES 4 120192754 120192754 single base substitution G A missense_variant R580Q 1739G>A CLLE-ES 4 120216591 120216591 single base substitution T A 3_prime_UTR_variant CLLE-ES 4 120216591 120216591 single base substitution T A downstream_gene_variant CLLE-ES 4 120217434 120217434 single base substitution G A downstream_gene_variant COAD-US 4 120182906 120182906 single base substitution A G exon_variant COAD-US 4 120182906 120182906 single base substitution A G missense_variant S287G 859A>G COAD-US 4 120182906 120182906 single base substitution A G upstream_gene_variant COAD-US 4 120192525 120192525 single base substitution A T 3_prime_UTR_variant COAD-US 4 120192525 120192525 single base substitution A T downstream_gene_variant COAD-US 4 120192525 120192525 single base substitution A T exon_variant COAD-US 4 120192525 120192525 single base substitution A T missense_variant N504Y 1510A>T COAD-US 4 120192533 120192533 single base substitution T C 3_prime_UTR_variant COAD-US 4 120192533 120192533 single base substitution T C downstream_gene_variant COAD-US 4 120192533 120192533 single base substitution T C exon_variant COAD-US 4 120192533 120192533 single base substitution T C synonymous_variant H506H 1518T>C COAD-US 4 120213823 120213823 single base substitution C G 3_prime_UTR_variant COAD-US 4 120213823 120213823 single base substitution C G missense_variant N893K 2679C>G COAD-US 4 120221496 120221496 insertion of <=200bp - A downstream_gene_variant COCA-CN 4 120161149 120161149 single base substitution G T downstream_gene_variant COCA-CN 4 120161149 120161149 single base substitution G T intron_variant COCA-CN 4 120166007 120166007 single base substitution T G intron_variant COCA-CN 4 120169997 120169997 single base substitution G A exon_variant COCA-CN 4 120169997 120169997 single base substitution G A missense_variant R111Q 332G>A COCA-CN 4 120177654 120177654 single base substitution G A exon_variant COCA-CN 4 120177654 120177654 single base substitution G A missense_variant R182Q 545G>A COCA-CN 4 120192437 120192437 single base substitution T A intron_variant COCA-CN 4 120194574 120194574 single base substitution G T downstream_gene_variant COCA-CN 4 120194574 120194574 single base substitution G T intron_variant COCA-CN 4 120219955 120219955 single base substitution T C downstream_gene_variant COCA-CN 4 120221457 120221457 single base substitution C T downstream_gene_variant ESAD-UK 4 120133092 120133092 single base substitution C T upstream_gene_variant ESAD-UK 4 120133902 120133902 single base substitution C T 5_prime_UTR_variant ESAD-UK 4 120133902 120133902 single base substitution C T exon_variant ESAD-UK 4 120133902 120133902 single base substitution C T upstream_gene_variant ESAD-UK 4 120134924 120134924 single base substitution T A intron_variant ESAD-UK 4 120138349 120138349 single base substitution A T intron_variant ESAD-UK 4 120144084 120144084 single base substitution A G downstream_gene_variant ESAD-UK 4 120144084 120144084 single base substitution A G intron_variant ESAD-UK 4 120146860 120146860 single base substitution C T downstream_gene_variant ESAD-UK 4 120146860 120146860 single base substitution C T intron_variant ESAD-UK 4 120148740 120148740 single base substitution C T intron_variant ESAD-UK 4 120153909 120153909 single base substitution T C intron_variant ESAD-UK 4 120158549 120158549 single base substitution G A intron_variant ESAD-UK 4 120158549 120158549 single base substitution G A upstream_gene_variant ESAD-UK 4 120159247 120159247 single base substitution G T intron_variant ESAD-UK 4 120159247 120159247 single base substitution G T upstream_gene_variant ESAD-UK 4 120159401 120159401 single base substitution A G intron_variant ESAD-UK 4 120159401 120159401 single base substitution A G upstream_gene_variant ESAD-UK 4 120159778 120159778 single base substitution C T intron_variant ESAD-UK 4 120159778 120159778 single base substitution C T upstream_gene_variant ESAD-UK 4 120162146 120162146 single base substitution C G downstream_gene_variant ESAD-UK 4 120162146 120162146 single base substitution C G intron_variant ESAD-UK 4 120162870 120162870 single base substitution G A downstream_gene_variant ESAD-UK 4 120162870 120162870 single base substitution G A intron_variant ESAD-UK 4 120167774 120167774 single base substitution G C intron_variant ESAD-UK 4 120168194 120168194 deletion of <=200bp T - intron_variant ESAD-UK 4 120168652 120168652 single base substitution C T intron_variant ESAD-UK 4 120168881 120168881 single base substitution G A intron_variant ESAD-UK 4 120169639 120169639 single base substitution A T intron_variant ESAD-UK 4 120169876 120169876 single base substitution C T intron_variant ESAD-UK 4 120170002 120170002 single base substitution C T exon_variant ESAD-UK 4 120170002 120170002 single base substitution C T stop_gained Q113* 337C>T ESAD-UK 4 120173129 120173129 single base substitution G T intron_variant ESAD-UK 4 120173534 120173534 single base substitution G A intron_variant ESAD-UK 4 120175492 120175492 single base substitution C T intron_variant ESAD-UK 4 120175894 120175894 single base substitution G T intron_variant ESAD-UK 4 120176420 120176420 single base substitution T C intron_variant ESAD-UK 4 120182874 120182874 single base substitution T C exon_variant ESAD-UK 4 120182874 120182874 single base substitution T C missense_variant F276S 827T>C ESAD-UK 4 120182874 120182874 single base substitution T C upstream_gene_variant ESAD-UK 4 120183057 120183057 single base substitution A C intron_variant ESAD-UK 4 120183309 120183309 single base substitution C T intron_variant ESAD-UK 4 120184415 120184415 single base substitution C G intron_variant ESAD-UK 4 120184415 120184415 single base substitution C G upstream_gene_variant ESAD-UK 4 120185187 120185187 single base substitution T G intron_variant ESAD-UK 4 120185187 120185187 single base substitution T G upstream_gene_variant ESAD-UK 4 120187368 120187368 single base substitution G T intron_variant ESAD-UK 4 120187368 120187368 single base substitution G T upstream_gene_variant ESAD-UK 4 120190211 120190211 single base substitution G C intron_variant ESAD-UK 4 120194029 120194029 single base substitution A G downstream_gene_variant ESAD-UK 4 120194029 120194029 single base substitution A G exon_variant ESAD-UK 4 120194029 120194029 single base substitution A G intron_variant ESAD-UK 4 120201356 120201356 single base substitution G T intron_variant ESAD-UK 4 120204090 120204090 single base substitution T A intron_variant ESAD-UK 4 120204549 120204549 single base substitution A G intron_variant ESAD-UK 4 120206169 120206169 single base substitution G T intron_variant ESAD-UK 4 120208509 120208509 single base substitution G T intron_variant ESAD-UK 4 120215020 120215020 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 120220025 120220025 single base substitution G C downstream_gene_variant ESCA-CN 4 120177471 120177471 deletion of <=200bp C - exon_variant ESCA-CN 4 120177471 120177471 deletion of <=200bp C - frameshift_variant S148 ESCA-CN 4 120219812 120219812 single base substitution G C downstream_gene_variant GBM-US 4 120213685 120213686 deletion of <=200bp CT - 3_prime_UTR_variant GBM-US 4 120213685 120213686 deletion of <=200bp CT - frameshift_variant NS847 KIRC-US 4 120182905 120182905 single base substitution T C exon_variant KIRC-US 4 120182905 120182905 single base substitution T C synonymous_variant N286N 858T>C KIRC-US 4 120182905 120182905 single base substitution T C upstream_gene_variant KIRC-US 4 120192821 120192821 single base substitution A C 3_prime_UTR_variant KIRC-US 4 120192821 120192821 single base substitution A C downstream_gene_variant KIRC-US 4 120192821 120192821 single base substitution A C exon_variant KIRC-US 4 120192821 120192821 single base substitution A C missense_variant K602N 1806A>C KIRC-US 4 120214163 120214163 single base substitution T A 3_prime_UTR_variant KIRC-US 4 120214163 120214163 single base substitution T A missense_variant F1007I 3019T>A LAML-KR 4 120133565 120133565 single base substitution C G upstream_gene_variant LAML-KR 4 120166399 120166399 single base substitution C A intron_variant LAML-KR 4 120169639 120169639 single base substitution A T intron_variant LAML-KR 4 120198068 120198068 single base substitution G A downstream_gene_variant LAML-KR 4 120198068 120198068 single base substitution G A intron_variant LAML-KR 4 120200085 120200085 single base substitution G A intron_variant LAML-KR 4 120200210 120200210 single base substitution C T intron_variant LAML-KR 4 120200316 120200316 single base substitution A G intron_variant LAML-KR 4 120200336 120200336 single base substitution G T intron_variant LGG-US 4 120192691 120192691 single base substitution A G 3_prime_UTR_variant LGG-US 4 120192691 120192691 single base substitution A G downstream_gene_variant LGG-US 4 120192691 120192691 single base substitution A G exon_variant LGG-US 4 120192691 120192691 single base substitution A G missense_variant D559G 1676A>G LGG-US 4 120214081 120214081 single base substitution T A 3_prime_UTR_variant LGG-US 4 120214081 120214081 single base substitution T A missense_variant D979E 2937T>A LICA-CN 4 120189518 120189518 single base substitution G T 3_prime_UTR_variant LICA-CN 4 120189518 120189518 single base substitution G T exon_variant LICA-CN 4 120189518 120189518 single base substitution G T missense_variant D411Y 1231G>T LICA-FR 4 120130444 120130444 single base substitution C T upstream_gene_variant LICA-FR 4 120136812 120136812 single base substitution T C intron_variant LICA-FR 4 120142014 120142014 single base substitution A T downstream_gene_variant LICA-FR 4 120142014 120142014 single base substitution A T exon_variant LICA-FR 4 120142014 120142014 single base substitution A T intron_variant LICA-FR 4 120142015 120142015 single base substitution C T downstream_gene_variant LICA-FR 4 120142015 120142015 single base substitution C T exon_variant LICA-FR 4 120142015 120142015 single base substitution C T intron_variant LICA-FR 4 120150989 120150989 single base substitution A G intron_variant LICA-FR 4 120173678 120173678 single base substitution A C intron_variant LICA-FR 4 120173682 120173682 single base substitution A G intron_variant LICA-FR 4 120181806 120181806 single base substitution G A missense_variant G274R 820G>A LICA-FR 4 120181806 120181806 single base substitution G A splice_region_variant LICA-FR 4 120181806 120181806 single base substitution G A upstream_gene_variant LICA-FR 4 120182106 120182114 deletion of <=200bp TTTTTTTTT - intron_variant LICA-FR 4 120182106 120182114 deletion of <=200bp TTTTTTTTT - upstream_gene_variant LICA-FR 4 120183266 120183266 single base substitution A G intron_variant LICA-FR 4 120195495 120195495 single base substitution A G downstream_gene_variant LICA-FR 4 120195495 120195495 single base substitution A G intron_variant LICA-FR 4 120208782 120208782 single base substitution T C intron_variant LICA-FR 4 120212882 120212882 single base substitution A C intron_variant LICA-FR 4 120217460 120217460 single base substitution T A downstream_gene_variant LICA-FR 4 120220648 120220648 single base substitution T C downstream_gene_variant LIHC-US 4 120182988 120182988 single base substitution G T exon_variant LIHC-US 4 120182988 120182988 single base substitution G T missense_variant W314L 941G>T LIHC-US 4 120189490 120189490 single base substitution G A 3_prime_UTR_variant LIHC-US 4 120189490 120189490 single base substitution G A exon_variant LIHC-US 4 120189490 120189490 single base substitution G A synonymous_variant K401K 1203G>A LIHC-US 4 120192951 120192951 single base substitution A T 3_prime_UTR_variant LIHC-US 4 120192951 120192951 single base substitution A T downstream_gene_variant LIHC-US 4 120192951 120192951 single base substitution A T exon_variant LIHC-US 4 120192951 120192951 single base substitution A T missense_variant M646L 1936A>T LINC-JP 4 120146330 120146330 single base substitution C A downstream_gene_variant LINC-JP 4 120146330 120146330 single base substitution C A intron_variant LINC-JP 4 120155175 120155175 single base substitution T G intron_variant LINC-JP 4 120167286 120167286 single base substitution G T intron_variant LINC-JP 4 120177300 120177300 single base substitution T C intron_variant LINC-JP 4 120180450 120180450 single base substitution A G intron_variant LINC-JP 4 120180450 120180450 single base substitution A G upstream_gene_variant LINC-JP 4 120188697 120188697 single base substitution C T intron_variant LINC-JP 4 120195041 120195041 single base substitution T A downstream_gene_variant LINC-JP 4 120195041 120195041 single base substitution T A intron_variant LINC-JP 4 120201382 120201382 deletion of <=200bp T - intron_variant LINC-JP 4 120213434 120213434 single base substitution C T intron_variant LINC-JP 4 120220103 120220103 single base substitution A C downstream_gene_variant LINC-JP 4 120221080 120221080 single base substitution C A downstream_gene_variant LIRI-JP 4 120128960 120128960 single base substitution T G upstream_gene_variant LIRI-JP 4 120131429 120131429 single base substitution T A upstream_gene_variant LIRI-JP 4 120133892 120133892 single base substitution T C 5_prime_UTR_variant LIRI-JP 4 120133892 120133892 single base substitution T C exon_variant LIRI-JP 4 120133892 120133892 single base substitution T C upstream_gene_variant LIRI-JP 4 120136214 120136217 deletion of <=200bp AGAA - intron_variant LIRI-JP 4 120137068 120137068 single base substitution A G intron_variant LIRI-JP 4 120137602 120137602 single base substitution A G intron_variant LIRI-JP 4 120137855 120137855 single base substitution A T intron_variant LIRI-JP 4 120138082 120138082 single base substitution A T intron_variant LIRI-JP 4 120138453 120138453 single base substitution C A intron_variant LIRI-JP 4 120138956 120138956 single base substitution G A exon_variant LIRI-JP 4 120138956 120138956 single base substitution G A intron_variant LIRI-JP 4 120139808 120139808 single base substitution C A exon_variant LIRI-JP 4 120139808 120139808 single base substitution C A intron_variant LIRI-JP 4 120142786 120142786 single base substitution A T downstream_gene_variant LIRI-JP 4 120142786 120142786 single base substitution A T intron_variant LIRI-JP 4 120143585 120143585 single base substitution A C downstream_gene_variant LIRI-JP 4 120143585 120143585 single base substitution A C intron_variant LIRI-JP 4 120143960 120143960 single base substitution A G downstream_gene_variant LIRI-JP 4 120143960 120143960 single base substitution A G intron_variant LIRI-JP 4 120145656 120145656 single base substitution T C downstream_gene_variant LIRI-JP 4 120145656 120145656 single base substitution T C intron_variant LIRI-JP 4 120146557 120146557 single base substitution G T downstream_gene_variant LIRI-JP 4 120146557 120146557 single base substitution G T intron_variant LIRI-JP 4 120150844 120150844 single base substitution A G intron_variant LIRI-JP 4 120152351 120152351 single base substitution G T intron_variant LIRI-JP 4 120153280 120153280 single base substitution T C intron_variant LIRI-JP 4 120154321 120154321 single base substitution C T intron_variant LIRI-JP 4 120154932 120154932 single base substitution A G intron_variant LIRI-JP 4 120155066 120155066 single base substitution G A intron_variant LIRI-JP 4 120157038 120157038 single base substitution A G intron_variant LIRI-JP 4 120157038 120157038 single base substitution A G upstream_gene_variant LIRI-JP 4 120158393 120158393 single base substitution C T intron_variant LIRI-JP 4 120158393 120158393 single base substitution C T upstream_gene_variant LIRI-JP 4 120159251 120159251 single base substitution A T intron_variant LIRI-JP 4 120159251 120159251 single base substitution A T upstream_gene_variant LIRI-JP 4 120161048 120161048 single base substitution G A downstream_gene_variant LIRI-JP 4 120161048 120161048 single base substitution G A exon_variant LIRI-JP 4 120161048 120161048 single base substitution G A missense_variant S45N 134G>A LIRI-JP 4 120164868 120164868 single base substitution C T downstream_gene_variant LIRI-JP 4 120164868 120164868 single base substitution C T intron_variant LIRI-JP 4 120165446 120165446 single base substitution G T downstream_gene_variant LIRI-JP 4 120165446 120165446 single base substitution G T intron_variant LIRI-JP 4 120167917 120167917 single base substitution C G intron_variant LIRI-JP 4 120168191 120168191 single base substitution C G intron_variant LIRI-JP 4 120170294 120170294 single base substitution A G intron_variant LIRI-JP 4 120172645 120172645 single base substitution A G intron_variant LIRI-JP 4 120172648 120172648 single base substitution A G intron_variant LIRI-JP 4 120172656 120172656 single base substitution A G intron_variant LIRI-JP 4 120173106 120173106 single base substitution G A intron_variant LIRI-JP 4 120173221 120173221 single base substitution C G intron_variant LIRI-JP 4 120176724 120176724 single base substitution G T intron_variant LIRI-JP 4 120180921 120180921 single base substitution T G intron_variant LIRI-JP 4 120180921 120180921 single base substitution T G upstream_gene_variant LIRI-JP 4 120181529 120181529 single base substitution G A intron_variant LIRI-JP 4 120181529 120181529 single base substitution G A upstream_gene_variant LIRI-JP 4 120183334 120183334 single base substitution A G intron_variant LIRI-JP 4 120183374 120183374 single base substitution A G intron_variant LIRI-JP 4 120189512 120189512 single base substitution C A 3_prime_UTR_variant LIRI-JP 4 120189512 120189512 single base substitution C A exon_variant LIRI-JP 4 120189512 120189512 single base substitution C A missense_variant P409T 1225C>A LIRI-JP 4 120192948 120192948 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 120192948 120192948 single base substitution G A downstream_gene_variant LIRI-JP 4 120192948 120192948 single base substitution G A exon_variant LIRI-JP 4 120192948 120192948 single base substitution G A missense_variant E645K 1933G>A LIRI-JP 4 120193779 120193779 single base substitution A G downstream_gene_variant LIRI-JP 4 120193779 120193779 single base substitution A G exon_variant LIRI-JP 4 120193779 120193779 single base substitution A G intron_variant LIRI-JP 4 120203941 120203942 deletion of <=200bp TT - intron_variant LIRI-JP 4 120203950 120203951 deletion of <=200bp TA - intron_variant LIRI-JP 4 120206159 120206163 deletion of <=200bp GTTTT - intron_variant LIRI-JP 4 120207494 120207495 deletion of <=200bp TA - intron_variant LIRI-JP 4 120209213 120209213 single base substitution T G intron_variant LIRI-JP 4 120211267 120211267 single base substitution A G intron_variant LIRI-JP 4 120212004 120212004 single base substitution G A intron_variant LIRI-JP 4 120214687 120214687 single base substitution A C 3_prime_UTR_variant LIRI-JP 4 120215802 120215802 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 120215802 120215802 single base substitution G A downstream_gene_variant LIRI-JP 4 120216862 120216862 single base substitution T G downstream_gene_variant LIRI-JP 4 120216877 120216877 single base substitution A C downstream_gene_variant LIRI-JP 4 120216885 120216885 single base substitution T G downstream_gene_variant LIRI-JP 4 120217014 120217014 single base substitution A C downstream_gene_variant LIRI-JP 4 120219220 120219220 single base substitution T G downstream_gene_variant LIRI-JP 4 120220117 120220124 deletion of <=200bp TGAGATTA - downstream_gene_variant LIRI-JP 4 120220150 120220157 deletion of <=200bp AGAGTAAA - downstream_gene_variant LIRI-JP 4 120220540 120220540 single base substitution T G downstream_gene_variant LUSC-KR 4 120129819 120129819 single base substitution C A upstream_gene_variant LUSC-KR 4 120137285 120137285 single base substitution A C intron_variant LUSC-KR 4 120140696 120140696 single base substitution A G exon_variant LUSC-KR 4 120140696 120140696 single base substitution A G intron_variant LUSC-KR 4 120142307 120142307 single base substitution G T downstream_gene_variant LUSC-KR 4 120142307 120142307 single base substitution G T exon_variant LUSC-KR 4 120142307 120142307 single base substitution G T intron_variant LUSC-KR 4 120152707 120152707 single base substitution A G intron_variant LUSC-KR 4 120153441 120153441 single base substitution C T intron_variant LUSC-KR 4 120160614 120160614 single base substitution G C 5_prime_UTR_variant LUSC-KR 4 120160614 120160614 single base substitution G C downstream_gene_variant LUSC-KR 4 120160614 120160614 single base substitution G C upstream_gene_variant LUSC-KR 4 120161194 120161194 single base substitution G A downstream_gene_variant LUSC-KR 4 120161194 120161194 single base substitution G A intron_variant LUSC-KR 4 120162352 120162352 single base substitution A G downstream_gene_variant LUSC-KR 4 120162352 120162352 single base substitution A G intron_variant LUSC-KR 4 120163217 120163217 single base substitution G T downstream_gene_variant LUSC-KR 4 120163217 120163217 single base substitution G T intron_variant LUSC-KR 4 120167408 120167408 single base substitution T A intron_variant LUSC-KR 4 120169477 120169477 single base substitution T C intron_variant LUSC-KR 4 120173093 120173093 single base substitution A T intron_variant LUSC-KR 4 120187748 120187748 single base substitution C G intron_variant LUSC-KR 4 120187748 120187748 single base substitution C G upstream_gene_variant LUSC-KR 4 120188662 120188662 single base substitution C G intron_variant LUSC-KR 4 120196176 120196176 single base substitution C T downstream_gene_variant LUSC-KR 4 120196176 120196176 single base substitution C T intron_variant LUSC-KR 4 120196607 120196607 single base substitution T C downstream_gene_variant LUSC-KR 4 120196607 120196607 single base substitution T C intron_variant LUSC-KR 4 120196666 120196666 single base substitution T G downstream_gene_variant LUSC-KR 4 120196666 120196666 single base substitution T G intron_variant LUSC-KR 4 120197308 120197308 single base substitution G C downstream_gene_variant LUSC-KR 4 120197308 120197308 single base substitution G C intron_variant LUSC-KR 4 120197423 120197423 single base substitution G A downstream_gene_variant LUSC-KR 4 120197423 120197423 single base substitution G A intron_variant LUSC-KR 4 120197446 120197446 single base substitution G C downstream_gene_variant LUSC-KR 4 120197446 120197446 single base substitution G C intron_variant LUSC-KR 4 120197752 120197752 single base substitution A G downstream_gene_variant LUSC-KR 4 120197752 120197752 single base substitution A G intron_variant LUSC-KR 4 120198068 120198068 single base substitution G A downstream_gene_variant LUSC-KR 4 120198068 120198068 single base substitution G A intron_variant LUSC-KR 4 120198071 120198071 single base substitution G C downstream_gene_variant LUSC-KR 4 120198071 120198071 single base substitution G C intron_variant LUSC-KR 4 120198451 120198451 single base substitution T C downstream_gene_variant LUSC-KR 4 120198451 120198451 single base substitution T C intron_variant LUSC-KR 4 120198555 120198555 single base substitution T C downstream_gene_variant LUSC-KR 4 120198555 120198555 single base substitution T C intron_variant LUSC-KR 4 120199592 120199592 single base substitution C T intron_variant LUSC-KR 4 120200085 120200085 single base substitution G A intron_variant LUSC-KR 4 120200210 120200210 single base substitution C T intron_variant LUSC-KR 4 120200316 120200316 single base substitution A G intron_variant LUSC-KR 4 120200336 120200336 single base substitution G T intron_variant LUSC-KR 4 120201537 120201537 single base substitution A T intron_variant LUSC-KR 4 120217155 120217155 single base substitution A T downstream_gene_variant LUSC-US 4 120192475 120192475 single base substitution A T 3_prime_UTR_variant LUSC-US 4 120192475 120192475 single base substitution A T exon_variant LUSC-US 4 120192475 120192475 single base substitution A T missense_variant H487L 1460A>T MALY-DE 4 120131259 120131259 single base substitution T G upstream_gene_variant MALY-DE 4 120135351 120135351 single base substitution T A 5_prime_UTR_variant MALY-DE 4 120135351 120135351 single base substitution T A exon_variant MALY-DE 4 120135351 120135351 single base substitution T A intron_variant MALY-DE 4 120135357 120135357 single base substitution T A 5_prime_UTR_variant MALY-DE 4 120135357 120135357 single base substitution T A exon_variant MALY-DE 4 120135357 120135357 single base substitution T A intron_variant MALY-DE 4 120137650 120137650 single base substitution C G intron_variant MALY-DE 4 120142729 120142729 single base substitution A C downstream_gene_variant MALY-DE 4 120142729 120142729 single base substitution A C intron_variant MALY-DE 4 120150946 120150946 single base substitution T A intron_variant MALY-DE 4 120153151 120153151 single base substitution A C intron_variant MALY-DE 4 120154405 120154405 insertion of <=200bp - T intron_variant MALY-DE 4 120156939 120156939 single base substitution G A intron_variant MALY-DE 4 120156939 120156939 single base substitution G A upstream_gene_variant MALY-DE 4 120160604 120160604 deletion of <=200bp A - 5_prime_UTR_variant MALY-DE 4 120160604 120160604 deletion of <=200bp A - downstream_gene_variant MALY-DE 4 120160604 120160604 deletion of <=200bp A - upstream_gene_variant MALY-DE 4 120163547 120163547 single base substitution C G downstream_gene_variant MALY-DE 4 120163547 120163547 single base substitution C G intron_variant MALY-DE 4 120165692 120165692 single base substitution G A intron_variant MALY-DE 4 120166847 120166847 single base substitution C A intron_variant MALY-DE 4 120173153 120173153 single base substitution T G intron_variant MALY-DE 4 120175391 120175391 single base substitution C T intron_variant MALY-DE 4 120183420 120183420 single base substitution T G intron_variant MALY-DE 4 120185238 120185238 single base substitution A G intron_variant MALY-DE 4 120185238 120185238 single base substitution A G upstream_gene_variant MALY-DE 4 120208599 120208599 single base substitution A C intron_variant MELA-AU 4 120128768 120128768 single base substitution G A upstream_gene_variant MELA-AU 4 120128899 120128899 single base substitution A T upstream_gene_variant MELA-AU 4 120128975 120128975 single base substitution G A upstream_gene_variant MELA-AU 4 120129045 120129045 single base substitution C T upstream_gene_variant MELA-AU 4 120129059 120129059 single base substitution G A upstream_gene_variant MELA-AU 4 120129136 120129136 single base substitution C T upstream_gene_variant MELA-AU 4 120129147 120129147 single base substitution G A upstream_gene_variant MELA-AU 4 120129172 120129172 single base substitution G A upstream_gene_variant MELA-AU 4 120129976 120129976 single base substitution G A upstream_gene_variant MELA-AU 4 120130099 120130099 single base substitution C T upstream_gene_variant MELA-AU 4 120130108 120130108 single base substitution G A upstream_gene_variant MELA-AU 4 120130245 120130245 single base substitution C T upstream_gene_variant MELA-AU 4 120130509 120130509 single base substitution G A upstream_gene_variant MELA-AU 4 120130876 120130876 single base substitution G A upstream_gene_variant MELA-AU 4 120130886 120130886 single base substitution A T upstream_gene_variant MELA-AU 4 120130901 120130901 single base substitution T C upstream_gene_variant MELA-AU 4 120131382 120131382 single base substitution C T upstream_gene_variant MELA-AU 4 120131625 120131625 single base substitution G A upstream_gene_variant MELA-AU 4 120132531 120132531 single base substitution G A upstream_gene_variant MELA-AU 4 120133217 120133217 single base substitution T A upstream_gene_variant MELA-AU 4 120134815 120134815 single base substitution A G intron_variant MELA-AU 4 120135143 120135143 single base substitution G A intron_variant MELA-AU 4 120135207 120135207 single base substitution A C intron_variant MELA-AU 4 120135228 120135228 single base substitution C G 5_prime_UTR_variant MELA-AU 4 120135228 120135228 single base substitution C G exon_variant MELA-AU 4 120135228 120135228 single base substitution C G intron_variant MELA-AU 4 120135789 120135789 single base substitution C T intron_variant MELA-AU 4 120136027 120136027 single base substitution C T intron_variant MELA-AU 4 120136066 120136066 single base substitution C T intron_variant MELA-AU 4 120137656 120137656 single base substitution C T intron_variant MELA-AU 4 120137898 120137904 deletion of <=200bp TTGATAT - intron_variant MELA-AU 4 120138378 120138378 single base substitution T C intron_variant MELA-AU 4 120138409 120138409 single base substitution C T intron_variant MELA-AU 4 120138465 120138465 single base substitution C T intron_variant MELA-AU 4 120138931 120138931 single base substitution G A exon_variant MELA-AU 4 120138931 120138931 single base substitution G A intron_variant MELA-AU 4 120139409 120139409 single base substitution C T exon_variant MELA-AU 4 120139409 120139409 single base substitution C T intron_variant MELA-AU 4 120139422 120139422 single base substitution A T exon_variant MELA-AU 4 120139422 120139422 single base substitution A T intron_variant MELA-AU 4 120139838 120139838 single base substitution C T exon_variant MELA-AU 4 120139838 120139838 single base substitution C T intron_variant MELA-AU 4 120141210 120141210 single base substitution T C exon_variant MELA-AU 4 120141210 120141210 single base substitution T C intron_variant MELA-AU 4 120141467 120141467 single base substitution C T downstream_gene_variant MELA-AU 4 120141467 120141467 single base substitution C T exon_variant MELA-AU 4 120141467 120141467 single base substitution C T intron_variant MELA-AU 4 120141661 120141661 single base substitution C T downstream_gene_variant MELA-AU 4 120141661 120141661 single base substitution C T exon_variant MELA-AU 4 120141661 120141661 single base substitution C T intron_variant MELA-AU 4 120141762 120141762 single base substitution C T downstream_gene_variant MELA-AU 4 120141762 120141762 single base substitution C T exon_variant MELA-AU 4 120141762 120141762 single base substitution C T intron_variant MELA-AU 4 120142406 120142406 single base substitution C T downstream_gene_variant MELA-AU 4 120142406 120142406 single base substitution C T exon_variant MELA-AU 4 120142406 120142406 single base substitution C T intron_variant MELA-AU 4 120144053 120144053 single base substitution T A downstream_gene_variant MELA-AU 4 120144053 120144053 single base substitution T A intron_variant MELA-AU 4 120144358 120144358 single base substitution C T downstream_gene_variant MELA-AU 4 120144358 120144358 single base substitution C T intron_variant MELA-AU 4 120144569 120144569 single base substitution C T downstream_gene_variant MELA-AU 4 120144569 120144569 single base substitution C T intron_variant MELA-AU 4 120145988 120145988 single base substitution G A downstream_gene_variant MELA-AU 4 120145988 120145988 single base substitution G A intron_variant MELA-AU 4 120146366 120146366 single base substitution C T downstream_gene_variant MELA-AU 4 120146366 120146366 single base substitution C T intron_variant MELA-AU 4 120146649 120146649 single base substitution C T downstream_gene_variant MELA-AU 4 120146649 120146649 single base substitution C T intron_variant MELA-AU 4 120147218 120147218 single base substitution G A downstream_gene_variant MELA-AU 4 120147218 120147218 single base substitution G A intron_variant MELA-AU 4 120147657 120147657 single base substitution C T intron_variant MELA-AU 4 120148393 120148393 single base substitution C T intron_variant MELA-AU 4 120148506 120148506 single base substitution C T intron_variant MELA-AU 4 120148576 120148576 single base substitution G A intron_variant MELA-AU 4 120149382 120149382 single base substitution C T intron_variant MELA-AU 4 120149550 120149550 single base substitution C T intron_variant MELA-AU 4 120150327 120150327 single base substitution T C intron_variant MELA-AU 4 120150809 120150809 single base substitution C T intron_variant MELA-AU 4 120151558 120151558 single base substitution C T intron_variant MELA-AU 4 120151573 120151573 single base substitution G A intron_variant MELA-AU 4 120151626 120151626 single base substitution C T intron_variant MELA-AU 4 120152639 120152639 single base substitution C T intron_variant MELA-AU 4 120152738 120152738 single base substitution C T intron_variant MELA-AU 4 120152813 120152813 single base substitution G A intron_variant MELA-AU 4 120153394 120153394 single base substitution C T intron_variant MELA-AU 4 120153716 120153716 insertion of <=200bp - TG intron_variant MELA-AU 4 120154153 120154153 single base substitution C T intron_variant MELA-AU 4 120154168 120154168 single base substitution C T intron_variant MELA-AU 4 120154292 120154292 single base substitution C T intron_variant MELA-AU 4 120154304 120154304 single base substitution C T intron_variant MELA-AU 4 120154332 120154332 single base substitution T C intron_variant MELA-AU 4 120154607 120154607 single base substitution C T intron_variant MELA-AU 4 120154644 120154644 single base substitution A G intron_variant MELA-AU 4 120154812 120154812 single base substitution T A intron_variant MELA-AU 4 120154971 120154971 single base substitution C T intron_variant MELA-AU 4 120155630 120155630 single base substitution C T intron_variant MELA-AU 4 120155630 120155630 single base substitution C T upstream_gene_variant MELA-AU 4 120155940 120155940 single base substitution C T intron_variant MELA-AU 4 120155940 120155940 single base substitution C T upstream_gene_variant MELA-AU 4 120156218 120156218 single base substitution T G intron_variant MELA-AU 4 120156218 120156218 single base substitution T G upstream_gene_variant MELA-AU 4 120156800 120156800 single base substitution C T intron_variant MELA-AU 4 120156800 120156800 single base substitution C T upstream_gene_variant MELA-AU 4 120157004 120157004 single base substitution C T intron_variant MELA-AU 4 120157004 120157004 single base substitution C T upstream_gene_variant MELA-AU 4 120157053 120157053 single base substitution T G intron_variant MELA-AU 4 120157053 120157053 single base substitution T G upstream_gene_variant MELA-AU 4 120157142 120157142 single base substitution C T intron_variant MELA-AU 4 120157142 120157142 single base substitution C T upstream_gene_variant MELA-AU 4 120157479 120157479 single base substitution C T intron_variant MELA-AU 4 120157479 120157479 single base substitution C T upstream_gene_variant MELA-AU 4 120157591 120157591 single base substitution T C intron_variant MELA-AU 4 120157591 120157591 single base substitution T C upstream_gene_variant MELA-AU 4 120157991 120157991 single base substitution T C intron_variant MELA-AU 4 120157991 120157991 single base substitution T C upstream_gene_variant MELA-AU 4 120158211 120158211 single base substitution G A intron_variant MELA-AU 4 120158211 120158211 single base substitution G A upstream_gene_variant MELA-AU 4 120158714 120158714 single base substitution A C intron_variant MELA-AU 4 120158714 120158714 single base substitution A C upstream_gene_variant MELA-AU 4 120159273 120159273 single base substitution C T intron_variant MELA-AU 4 120159273 120159273 single base substitution C T upstream_gene_variant MELA-AU 4 120160137 120160137 single base substitution C T intron_variant MELA-AU 4 120160137 120160137 single base substitution C T upstream_gene_variant MELA-AU 4 120160168 120160168 single base substitution T G intron_variant MELA-AU 4 120160168 120160168 single base substitution T G upstream_gene_variant MELA-AU 4 120160613 120160613 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 120160613 120160613 single base substitution C T downstream_gene_variant MELA-AU 4 120160613 120160613 single base substitution C T upstream_gene_variant MELA-AU 4 120161243 120161243 single base substitution G T downstream_gene_variant MELA-AU 4 120161243 120161243 single base substitution G T intron_variant MELA-AU 4 120161251 120161251 single base substitution C T downstream_gene_variant MELA-AU 4 120161251 120161251 single base substitution C T intron_variant MELA-AU 4 120161851 120161851 single base substitution C T downstream_gene_variant MELA-AU 4 120161851 120161851 single base substitution C T intron_variant MELA-AU 4 120162227 120162227 single base substitution C T downstream_gene_variant MELA-AU 4 120162227 120162227 single base substitution C T intron_variant MELA-AU 4 120162720 120162720 single base substitution T A downstream_gene_variant MELA-AU 4 120162720 120162720 single base substitution T A intron_variant MELA-AU 4 120162969 120162969 single base substitution T C downstream_gene_variant MELA-AU 4 120162969 120162969 single base substitution T C intron_variant MELA-AU 4 120163055 120163055 single base substitution C T downstream_gene_variant MELA-AU 4 120163055 120163055 single base substitution C T intron_variant MELA-AU 4 120163745 120163745 single base substitution C T downstream_gene_variant MELA-AU 4 120163745 120163745 single base substitution C T intron_variant MELA-AU 4 120163759 120163759 single base substitution C T downstream_gene_variant MELA-AU 4 120163759 120163759 single base substitution C T intron_variant MELA-AU 4 120164310 120164310 single base substitution C T downstream_gene_variant MELA-AU 4 120164310 120164310 single base substitution C T intron_variant MELA-AU 4 120164480 120164480 single base substitution C T downstream_gene_variant MELA-AU 4 120164480 120164480 single base substitution C T intron_variant MELA-AU 4 120165317 120165317 single base substitution C T downstream_gene_variant MELA-AU 4 120165317 120165317 single base substitution C T intron_variant MELA-AU 4 120166938 120166938 single base substitution C T intron_variant MELA-AU 4 120166944 120166944 single base substitution C T intron_variant MELA-AU 4 120167131 120167131 single base substitution C T intron_variant MELA-AU 4 120167162 120167163 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 120167252 120167252 single base substitution G A intron_variant MELA-AU 4 120168567 120168567 single base substitution C T intron_variant MELA-AU 4 120168646 120168646 single base substitution C T intron_variant MELA-AU 4 120168864 120168864 single base substitution C T intron_variant MELA-AU 4 120169048 120169048 single base substitution T A intron_variant MELA-AU 4 120169639 120169639 single base substitution A T intron_variant MELA-AU 4 120170155 120170155 single base substitution C T intron_variant MELA-AU 4 120170164 120170164 single base substitution C T intron_variant MELA-AU 4 120170179 120170179 single base substitution C T intron_variant MELA-AU 4 120170357 120170357 single base substitution C T intron_variant MELA-AU 4 120170850 120170850 single base substitution C T intron_variant MELA-AU 4 120171054 120171054 single base substitution C T intron_variant MELA-AU 4 120171569 120171569 single base substitution C T intron_variant MELA-AU 4 120172115 120172115 single base substitution T C intron_variant MELA-AU 4 120172534 120172534 single base substitution C A intron_variant MELA-AU 4 120172559 120172559 single base substitution C T intron_variant MELA-AU 4 120172692 120172692 single base substitution C T intron_variant MELA-AU 4 120172859 120172859 single base substitution C T intron_variant MELA-AU 4 120173643 120173643 single base substitution C T intron_variant MELA-AU 4 120174040 120174040 single base substitution C T intron_variant MELA-AU 4 120175243 120175244 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 120175377 120175377 single base substitution C T intron_variant MELA-AU 4 120175399 120175399 single base substitution C T intron_variant MELA-AU 4 120175408 120175408 single base substitution G T intron_variant MELA-AU 4 120175490 120175490 single base substitution T C intron_variant MELA-AU 4 120175998 120175998 single base substitution C T intron_variant MELA-AU 4 120176366 120176366 single base substitution C T intron_variant MELA-AU 4 120176552 120176552 single base substitution C T intron_variant MELA-AU 4 120176733 120176733 single base substitution G T intron_variant MELA-AU 4 120176773 120176773 single base substitution C T intron_variant MELA-AU 4 120176858 120176858 single base substitution C T intron_variant MELA-AU 4 120176928 120176928 single base substitution C T intron_variant MELA-AU 4 120176967 120176967 single base substitution A G intron_variant MELA-AU 4 120177418 120177418 single base substitution G A exon_variant MELA-AU 4 120177418 120177418 single base substitution G A synonymous_variant R130R 390G>A MELA-AU 4 120178054 120178054 single base substitution C T intron_variant MELA-AU 4 120178054 120178054 single base substitution C T upstream_gene_variant MELA-AU 4 120178199 120178199 single base substitution C T intron_variant MELA-AU 4 120178199 120178199 single base substitution C T upstream_gene_variant MELA-AU 4 120178480 120178480 single base substitution C T intron_variant MELA-AU 4 120178480 120178480 single base substitution C T upstream_gene_variant MELA-AU 4 120178492 120178492 single base substitution A C intron_variant MELA-AU 4 120178492 120178492 single base substitution A C upstream_gene_variant MELA-AU 4 120178594 120178594 single base substitution C T intron_variant MELA-AU 4 120178594 120178594 single base substitution C T upstream_gene_variant MELA-AU 4 120179088 120179088 single base substitution T C intron_variant MELA-AU 4 120179088 120179088 single base substitution T C upstream_gene_variant MELA-AU 4 120179253 120179253 single base substitution G A intron_variant MELA-AU 4 120179253 120179253 single base substitution G A upstream_gene_variant MELA-AU 4 120180247 120180247 single base substitution G A intron_variant MELA-AU 4 120180247 120180247 single base substitution G A upstream_gene_variant MELA-AU 4 120180485 120180485 single base substitution G A intron_variant MELA-AU 4 120180485 120180485 single base substitution G A upstream_gene_variant MELA-AU 4 120181497 120181497 single base substitution C T intron_variant MELA-AU 4 120181497 120181497 single base substitution C T upstream_gene_variant MELA-AU 4 120181864 120181864 single base substitution C T intron_variant MELA-AU 4 120181864 120181864 single base substitution C T upstream_gene_variant MELA-AU 4 120182000 120182000 single base substitution C T intron_variant MELA-AU 4 120182000 120182000 single base substitution C T upstream_gene_variant MELA-AU 4 120182053 120182053 single base substitution T G intron_variant MELA-AU 4 120182053 120182053 single base substitution T G upstream_gene_variant MELA-AU 4 120184023 120184023 single base substitution C T intron_variant MELA-AU 4 120184023 120184023 single base substitution C T upstream_gene_variant MELA-AU 4 120184212 120184212 single base substitution C T intron_variant MELA-AU 4 120184212 120184212 single base substitution C T upstream_gene_variant MELA-AU 4 120184774 120184774 single base substitution C T intron_variant MELA-AU 4 120184774 120184774 single base substitution C T upstream_gene_variant MELA-AU 4 120184974 120184974 single base substitution C T intron_variant MELA-AU 4 120184974 120184974 single base substitution C T upstream_gene_variant MELA-AU 4 120185009 120185009 single base substitution G A intron_variant MELA-AU 4 120185009 120185009 single base substitution G A upstream_gene_variant MELA-AU 4 120185296 120185296 single base substitution C T intron_variant MELA-AU 4 120185296 120185296 single base substitution C T upstream_gene_variant MELA-AU 4 120185589 120185589 single base substitution C G intron_variant MELA-AU 4 120185589 120185589 single base substitution C G upstream_gene_variant MELA-AU 4 120185701 120185701 single base substitution C T intron_variant MELA-AU 4 120185701 120185701 single base substitution C T upstream_gene_variant MELA-AU 4 120185726 120185726 single base substitution C T intron_variant MELA-AU 4 120185726 120185726 single base substitution C T upstream_gene_variant MELA-AU 4 120185985 120185985 single base substitution C T intron_variant MELA-AU 4 120185985 120185985 single base substitution C T upstream_gene_variant MELA-AU 4 120186241 120186241 single base substitution G A intron_variant MELA-AU 4 120186241 120186241 single base substitution G A upstream_gene_variant MELA-AU 4 120186678 120186678 single base substitution T C intron_variant MELA-AU 4 120186678 120186678 single base substitution T C upstream_gene_variant MELA-AU 4 120186741 120186741 single base substitution C T intron_variant MELA-AU 4 120186741 120186741 single base substitution C T upstream_gene_variant MELA-AU 4 120187272 120187272 single base substitution C T intron_variant MELA-AU 4 120187272 120187272 single base substitution C T upstream_gene_variant MELA-AU 4 120187443 120187443 single base substitution C T intron_variant MELA-AU 4 120187443 120187443 single base substitution C T upstream_gene_variant MELA-AU 4 120187591 120187591 single base substitution C T intron_variant MELA-AU 4 120187591 120187591 single base substitution C T upstream_gene_variant MELA-AU 4 120187688 120187688 single base substitution C T intron_variant MELA-AU 4 120187688 120187688 single base substitution C T upstream_gene_variant MELA-AU 4 120187768 120187768 single base substitution C T intron_variant MELA-AU 4 120187768 120187768 single base substitution C T upstream_gene_variant MELA-AU 4 120187787 120187787 single base substitution C T intron_variant MELA-AU 4 120187787 120187787 single base substitution C T upstream_gene_variant MELA-AU 4 120187826 120187826 single base substitution C T intron_variant MELA-AU 4 120187826 120187826 single base substitution C T upstream_gene_variant MELA-AU 4 120189224 120189234 deletion of <=200bp AGGCAGCAGAA - intron_variant MELA-AU 4 120189660 120189660 single base substitution C T intron_variant MELA-AU 4 120190784 120190784 single base substitution T C intron_variant MELA-AU 4 120191947 120191947 single base substitution C T intron_variant MELA-AU 4 120192211 120192211 single base substitution G C intron_variant MELA-AU 4 120192501 120192501 single base substitution C T 3_prime_UTR_variant MELA-AU 4 120192501 120192501 single base substitution C T exon_variant MELA-AU 4 120192501 120192501 single base substitution C T missense_variant P496S 1486C>T MELA-AU 4 120192724 120192724 single base substitution G A 3_prime_UTR_variant MELA-AU 4 120192724 120192724 single base substitution G A downstream_gene_variant MELA-AU 4 120192724 120192724 single base substitution G A exon_variant MELA-AU 4 120192724 120192724 single base substitution G A missense_variant G570E 1709G>A MELA-AU 4 120193398 120193398 single base substitution C T downstream_gene_variant MELA-AU 4 120193398 120193398 single base substitution C T exon_variant MELA-AU 4 120193398 120193398 single base substitution C T intron_variant MELA-AU 4 120193837 120193837 single base substitution C T downstream_gene_variant MELA-AU 4 120193837 120193837 single base substitution C T exon_variant MELA-AU 4 120193837 120193837 single base substitution C T intron_variant MELA-AU 4 120194211 120194211 single base substitution C T downstream_gene_variant MELA-AU 4 120194211 120194211 single base substitution C T exon_variant MELA-AU 4 120194211 120194211 single base substitution C T intron_variant MELA-AU 4 120195009 120195014 deletion of <=200bp TTAAGT - downstream_gene_variant MELA-AU 4 120195009 120195014 deletion of <=200bp TTAAGT - intron_variant MELA-AU 4 120196874 120196874 single base substitution C T downstream_gene_variant MELA-AU 4 120196874 120196874 single base substitution C T intron_variant MELA-AU 4 120196917 120196917 single base substitution C T downstream_gene_variant MELA-AU 4 120196917 120196917 single base substitution C T intron_variant MELA-AU 4 120200997 120200997 single base substitution C T intron_variant MELA-AU 4 120201908 120201908 single base substitution C T intron_variant MELA-AU 4 120202408 120202421 deletion of <=200bp TTAGCAAAGGGATT - intron_variant MELA-AU 4 120202541 120202541 single base substitution G T intron_variant MELA-AU 4 120202763 120202763 single base substitution C T intron_variant MELA-AU 4 120203086 120203086 single base substitution C T intron_variant MELA-AU 4 120203401 120203401 single base substitution T A intron_variant MELA-AU 4 120203881 120203881 single base substitution C T intron_variant MELA-AU 4 120204782 120204782 single base substitution T C intron_variant MELA-AU 4 120207444 120207444 single base substitution C T intron_variant MELA-AU 4 120208094 120208094 single base substitution T A intron_variant MELA-AU 4 120208516 120208516 single base substitution G C intron_variant MELA-AU 4 120208523 120208523 single base substitution A G intron_variant MELA-AU 4 120209118 120209118 single base substitution G A intron_variant MELA-AU 4 120209700 120209700 single base substitution T A intron_variant MELA-AU 4 120209798 120209798 single base substitution A T intron_variant MELA-AU 4 120209876 120209877 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 4 120210221 120210221 single base substitution C T intron_variant MELA-AU 4 120210396 120210396 single base substitution C T intron_variant MELA-AU 4 120212403 120212403 single base substitution C T 3_prime_UTR_variant MELA-AU 4 120212403 120212403 single base substitution C T missense_variant H779Y 2335C>T MELA-AU 4 120214237 120214237 single base substitution G C 3_prime_UTR_variant MELA-AU 4 120214237 120214237 single base substitution G C missense_variant E1031D 3093G>C MELA-AU 4 120214457 120214457 single base substitution G A 3_prime_UTR_variant MELA-AU 4 120215636 120215636 single base substitution T A 3_prime_UTR_variant MELA-AU 4 120216506 120216506 single base substitution T A 3_prime_UTR_variant MELA-AU 4 120216506 120216506 single base substitution T A downstream_gene_variant MELA-AU 4 120216767 120216767 single base substitution A G downstream_gene_variant MELA-AU 4 120216798 120216798 single base substitution G A downstream_gene_variant MELA-AU 4 120216993 120216993 single base substitution G A downstream_gene_variant MELA-AU 4 120218688 120218688 single base substitution C T downstream_gene_variant MELA-AU 4 120219965 120219965 single base substitution G A downstream_gene_variant MELA-AU 4 120220044 120220044 single base substitution A G downstream_gene_variant MELA-AU 4 120220091 120220091 single base substitution C A downstream_gene_variant ORCA-IN 4 120129824 120129824 single base substitution C A upstream_gene_variant ORCA-IN 4 120133938 120133938 single base substitution G A 5_prime_UTR_variant ORCA-IN 4 120133938 120133938 single base substitution G A exon_variant ORCA-IN 4 120133938 120133938 single base substitution G A upstream_gene_variant ORCA-IN 4 120149792 120149792 single base substitution C T intron_variant ORCA-IN 4 120174553 120174553 single base substitution C T intron_variant OV-AU 4 120133958 120133958 single base substitution T G 5_prime_UTR_variant OV-AU 4 120133958 120133958 single base substitution T G exon_variant OV-AU 4 120133958 120133958 single base substitution T G upstream_gene_variant OV-AU 4 120134813 120134813 single base substitution A G intron_variant OV-AU 4 120135870 120135870 single base substitution G T intron_variant OV-AU 4 120142217 120142217 single base substitution A G downstream_gene_variant OV-AU 4 120142217 120142217 single base substitution A G exon_variant OV-AU 4 120142217 120142217 single base substitution A G intron_variant OV-AU 4 120154331 120154331 single base substitution T C intron_variant OV-AU 4 120155515 120155515 single base substitution T A intron_variant OV-AU 4 120155515 120155515 single base substitution T A upstream_gene_variant OV-AU 4 120158977 120158977 single base substitution C T intron_variant OV-AU 4 120158977 120158977 single base substitution C T upstream_gene_variant OV-AU 4 120159277 120159277 single base substitution C G intron_variant OV-AU 4 120159277 120159277 single base substitution C G upstream_gene_variant OV-AU 4 120161273 120161273 single base substitution G C downstream_gene_variant OV-AU 4 120161273 120161273 single base substitution G C intron_variant OV-AU 4 120162299 120162299 single base substitution A G downstream_gene_variant OV-AU 4 120162299 120162299 single base substitution A G intron_variant OV-AU 4 120165826 120165826 single base substitution G T intron_variant OV-AU 4 120174267 120174267 single base substitution T A intron_variant OV-AU 4 120179663 120179663 single base substitution A G intron_variant OV-AU 4 120179663 120179663 single base substitution A G upstream_gene_variant OV-AU 4 120181588 120181588 single base substitution A T intron_variant OV-AU 4 120181588 120181588 single base substitution A T upstream_gene_variant OV-AU 4 120186823 120186823 single base substitution C G intron_variant OV-AU 4 120186823 120186823 single base substitution C G upstream_gene_variant OV-US 4 120189479 120189479 single base substitution G C 3_prime_UTR_variant OV-US 4 120189479 120189479 single base substitution G C exon_variant OV-US 4 120189479 120189479 single base substitution G C missense_variant D398H 1192G>C PACA-AU 4 120131303 120131303 insertion of <=200bp - GA upstream_gene_variant PACA-AU 4 120137129 120137129 single base substitution T G intron_variant PACA-AU 4 120143510 120143510 single base substitution T C downstream_gene_variant PACA-AU 4 120143510 120143510 single base substitution T C intron_variant PACA-AU 4 120144307 120144323 deletion of <=200bp TAAGGTGCCCAATTAAA - downstream_gene_variant PACA-AU 4 120144307 120144323 deletion of <=200bp TAAGGTGCCCAATTAAA - intron_variant PACA-AU 4 120144618 120144618 single base substitution T G downstream_gene_variant PACA-AU 4 120144618 120144618 single base substitution T G intron_variant PACA-AU 4 120147436 120147436 single base substitution T A downstream_gene_variant PACA-AU 4 120147436 120147436 single base substitution T A intron_variant PACA-AU 4 120148805 120148805 single base substitution T A intron_variant PACA-AU 4 120152891 120152891 single base substitution G T intron_variant PACA-AU 4 120153093 120153093 single base substitution A G intron_variant PACA-AU 4 120154332 120154332 single base substitution T C intron_variant PACA-AU 4 120159372 120159372 single base substitution T G intron_variant PACA-AU 4 120159372 120159372 single base substitution T G upstream_gene_variant PACA-AU 4 120175024 120175024 single base substitution C T intron_variant PACA-AU 4 120176372 120176372 single base substitution C T intron_variant PACA-AU 4 120182214 120182214 single base substitution A G intron_variant PACA-AU 4 120182214 120182214 single base substitution A G upstream_gene_variant PACA-AU 4 120187635 120187635 single base substitution A G intron_variant PACA-AU 4 120187635 120187635 single base substitution A G upstream_gene_variant PACA-AU 4 120188132 120188132 single base substitution C A intron_variant PACA-AU 4 120188132 120188132 single base substitution C A upstream_gene_variant PACA-AU 4 120195410 120195410 single base substitution A C downstream_gene_variant PACA-AU 4 120195410 120195410 single base substitution A C intron_variant PACA-AU 4 120202830 120202830 single base substitution T A intron_variant PACA-AU 4 120205376 120205376 single base substitution G A intron_variant PACA-AU 4 120214678 120214678 single base substitution G A 3_prime_UTR_variant PACA-AU 4 120214680 120214680 single base substitution G T 3_prime_UTR_variant PACA-AU 4 120215020 120215020 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 4 120220224 120220224 single base substitution C A downstream_gene_variant PACA-CA 4 120130432 120130432 single base substitution C A upstream_gene_variant PACA-CA 4 120131204 120131204 single base substitution C T upstream_gene_variant PACA-CA 4 120134815 120134815 single base substitution A G intron_variant PACA-CA 4 120134817 120134817 single base substitution G A intron_variant PACA-CA 4 120134844 120134844 insertion of <=200bp - AT intron_variant PACA-CA 4 120139439 120139439 single base substitution G T exon_variant PACA-CA 4 120139439 120139439 single base substitution G T intron_variant PACA-CA 4 120143266 120143266 single base substitution G A downstream_gene_variant PACA-CA 4 120143266 120143266 single base substitution G A intron_variant PACA-CA 4 120145952 120145952 single base substitution C T downstream_gene_variant PACA-CA 4 120145952 120145952 single base substitution C T intron_variant PACA-CA 4 120148293 120148296 deletion of <=200bp AATT - intron_variant PACA-CA 4 120149448 120149448 single base substitution A G intron_variant PACA-CA 4 120154151 120154151 single base substitution A G intron_variant PACA-CA 4 120155051 120155051 single base substitution G A intron_variant PACA-CA 4 120157330 120157330 single base substitution C T intron_variant PACA-CA 4 120157330 120157330 single base substitution C T upstream_gene_variant PACA-CA 4 120157896 120157898 deletion of <=200bp TGC - intron_variant PACA-CA 4 120157896 120157898 deletion of <=200bp TGC - upstream_gene_variant PACA-CA 4 120160604 120160604 deletion of <=200bp A - 5_prime_UTR_variant PACA-CA 4 120160604 120160604 deletion of <=200bp A - downstream_gene_variant PACA-CA 4 120160604 120160604 deletion of <=200bp A - upstream_gene_variant PACA-CA 4 120162328 120162328 single base substitution C T downstream_gene_variant PACA-CA 4 120162328 120162328 single base substitution C T intron_variant PACA-CA 4 120169104 120169104 single base substitution T C intron_variant PACA-CA 4 120171103 120171103 single base substitution G A intron_variant PACA-CA 4 120177708 120177708 single base substitution C T intron_variant PACA-CA 4 120178551 120178551 single base substitution C T intron_variant PACA-CA 4 120178551 120178551 single base substitution C T upstream_gene_variant PACA-CA 4 120184569 120184569 single base substitution C T intron_variant PACA-CA 4 120184569 120184569 single base substitution C T upstream_gene_variant PACA-CA 4 120186804 120186804 single base substitution C T intron_variant PACA-CA 4 120186804 120186804 single base substitution C T upstream_gene_variant PACA-CA 4 120190639 120190639 single base substitution A C intron_variant PACA-CA 4 120200967 120200967 single base substitution T A intron_variant PACA-CA 4 120204436 120204436 single base substitution C T intron_variant PACA-CA 4 120206692 120206692 single base substitution A T intron_variant PACA-CA 4 120208371 120208371 single base substitution A T intron_variant PACA-CA 4 120209698 120209698 single base substitution C T intron_variant PACA-CA 4 120216204 120216204 single base substitution T C 3_prime_UTR_variant PACA-CA 4 120216204 120216204 single base substitution T C downstream_gene_variant PACA-CA 4 120220089 120220089 insertion of <=200bp - AA downstream_gene_variant PAEN-AU 4 120130419 120130419 single base substitution G A upstream_gene_variant PAEN-AU 4 120133904 120133904 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PAEN-AU 4 120133904 120133904 single base substitution G A exon_variant PAEN-AU 4 120133904 120133904 single base substitution G A upstream_gene_variant PAEN-AU 4 120169520 120169520 single base substitution G A intron_variant PAEN-AU 4 120183370 120183370 single base substitution G A intron_variant PAEN-AU 4 120191115 120191115 single base substitution T C intron_variant PAEN-AU 4 120214677 120214677 single base substitution C T 3_prime_UTR_variant PAEN-IT 4 120148361 120148361 single base substitution G T intron_variant PAEN-IT 4 120182754 120182754 single base substitution T C intron_variant PAEN-IT 4 120182754 120182754 single base substitution T C upstream_gene_variant PAEN-IT 4 120216876 120216876 single base substitution G C downstream_gene_variant PBCA-DE 4 120141457 120141457 single base substitution C T downstream_gene_variant PBCA-DE 4 120141457 120141457 single base substitution C T exon_variant PBCA-DE 4 120141457 120141457 single base substitution C T intron_variant PBCA-DE 4 120148412 120148412 insertion of <=200bp - AC intron_variant PBCA-DE 4 120150393 120150393 deletion of <=200bp C - intron_variant PBCA-DE 4 120157459 120157459 single base substitution A G intron_variant PBCA-DE 4 120157459 120157459 single base substitution A G upstream_gene_variant PBCA-DE 4 120160063 120160063 single base substitution A G intron_variant PBCA-DE 4 120160063 120160063 single base substitution A G upstream_gene_variant PBCA-DE 4 120166515 120166515 single base substitution C A exon_variant PBCA-DE 4 120166515 120166515 single base substitution C A missense_variant F56L 168C>A PBCA-DE 4 120173929 120173929 single base substitution A T intron_variant PBCA-DE 4 120179251 120179251 single base substitution T C intron_variant PBCA-DE 4 120179251 120179251 single base substitution T C upstream_gene_variant PBCA-DE 4 120185946 120185946 single base substitution C A intron_variant PBCA-DE 4 120185946 120185946 single base substitution C A upstream_gene_variant PBCA-DE 4 120194969 120194969 single base substitution T A downstream_gene_variant PBCA-DE 4 120194969 120194969 single base substitution T A intron_variant PBCA-DE 4 120205448 120205448 insertion of <=200bp - A intron_variant PBCA-DE 4 120216594 120216594 single base substitution C A 3_prime_UTR_variant PBCA-DE 4 120216594 120216594 single base substitution C A downstream_gene_variant PRAD-CA 4 120167309 120167309 single base substitution G C intron_variant PRAD-CA 4 120168681 120168681 single base substitution T C intron_variant PRAD-CA 4 120169639 120169639 single base substitution A T intron_variant PRAD-CA 4 120191550 120191550 single base substitution A G intron_variant PRAD-CA 4 120192192 120192192 single base substitution G A intron_variant PRAD-CA 4 120204775 120204775 single base substitution T A intron_variant PRAD-CA 4 120211398 120211398 single base substitution T A intron_variant PRAD-UK 4 120129433 120129433 single base substitution C A upstream_gene_variant PRAD-UK 4 120129434 120129434 single base substitution C A upstream_gene_variant PRAD-UK 4 120151285 120151285 single base substitution C T intron_variant PRAD-UK 4 120154694 120154694 single base substitution C T intron_variant PRAD-UK 4 120155157 120155157 single base substitution G T intron_variant PRAD-UK 4 120158210 120158230 deletion of <=200bp TGAAAGCAACATTAATCTCTT - intron_variant PRAD-UK 4 120158210 120158230 deletion of <=200bp TGAAAGCAACATTAATCTCTT - upstream_gene_variant PRAD-UK 4 120160932 120160932 single base substitution C G downstream_gene_variant PRAD-UK 4 120160932 120160932 single base substitution C G exon_variant PRAD-UK 4 120160932 120160932 single base substitution C G missense_variant F6L 18C>G PRAD-UK 4 120173226 120173226 single base substitution G C intron_variant PRAD-UK 4 120176020 120176020 single base substitution A G intron_variant PRAD-UK 4 120188436 120188436 single base substitution G C intron_variant PRAD-UK 4 120188436 120188436 single base substitution G C upstream_gene_variant PRAD-UK 4 120201636 120201636 single base substitution C T intron_variant PRAD-UK 4 120213648 120213648 single base substitution A C 3_prime_UTR_variant PRAD-UK 4 120213648 120213648 single base substitution A C missense_variant N835T 2504A>C READ-US 4 120181689 120181689 single base substitution C T exon_variant READ-US 4 120181689 120181689 single base substitution C T missense_variant R235C 703C>T READ-US 4 120181689 120181689 single base substitution C T upstream_gene_variant READ-US 4 120213965 120213965 single base substitution G A 3_prime_UTR_variant READ-US 4 120213965 120213965 single base substitution G A missense_variant E941K 2821G>A RECA-EU 4 120140217 120140217 single base substitution T C exon_variant RECA-EU 4 120140217 120140217 single base substitution T C intron_variant RECA-EU 4 120145469 120145469 single base substitution G A downstream_gene_variant RECA-EU 4 120145469 120145469 single base substitution G A intron_variant RECA-EU 4 120170332 120170332 single base substitution A G intron_variant RECA-EU 4 120174149 120174149 single base substitution C T intron_variant RECA-EU 4 120200977 120200977 single base substitution G T intron_variant RECA-EU 4 120214292 120214292 single base substitution A G 3_prime_UTR_variant RECA-EU 4 120214292 120214292 single base substitution A G missense_variant R1050G 3148A>G SKCA-BR 4 120130075 120130076 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 4 120130286 120130286 single base substitution G A upstream_gene_variant SKCA-BR 4 120133060 120133061 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 4 120133949 120133949 single base substitution A G 5_prime_UTR_variant SKCA-BR 4 120133949 120133949 single base substitution A G exon_variant SKCA-BR 4 120133949 120133949 single base substitution A G upstream_gene_variant SKCA-BR 4 120134798 120134798 insertion of <=200bp - TATATTAGATATATATAG intron_variant SKCA-BR 4 120135295 120135295 single base substitution C T 5_prime_UTR_variant SKCA-BR 4 120135295 120135295 single base substitution C T exon_variant SKCA-BR 4 120135295 120135295 single base substitution C T intron_variant SKCA-BR 4 120135767 120135767 insertion of <=200bp - TAA intron_variant SKCA-BR 4 120136514 120136514 single base substitution C T intron_variant SKCA-BR 4 120138468 120138468 single base substitution C T intron_variant SKCA-BR 4 120141260 120141260 single base substitution T C exon_variant SKCA-BR 4 120141260 120141260 single base substitution T C intron_variant SKCA-BR 4 120141496 120141496 single base substitution G A downstream_gene_variant SKCA-BR 4 120141496 120141496 single base substitution G A exon_variant SKCA-BR 4 120141496 120141496 single base substitution G A intron_variant SKCA-BR 4 120142449 120142449 single base substitution C G downstream_gene_variant SKCA-BR 4 120142449 120142449 single base substitution C G exon_variant SKCA-BR 4 120142449 120142449 single base substitution C G intron_variant SKCA-BR 4 120144325 120144325 single base substitution G T downstream_gene_variant SKCA-BR 4 120144325 120144325 single base substitution G T intron_variant SKCA-BR 4 120147460 120147460 single base substitution C T downstream_gene_variant SKCA-BR 4 120147460 120147460 single base substitution C T intron_variant SKCA-BR 4 120148761 120148761 single base substitution G T intron_variant SKCA-BR 4 120150468 120150468 single base substitution C T intron_variant SKCA-BR 4 120150952 120150952 single base substitution C T intron_variant SKCA-BR 4 120152096 120152096 single base substitution C T intron_variant SKCA-BR 4 120156185 120156185 single base substitution C T intron_variant SKCA-BR 4 120156185 120156185 single base substitution C T upstream_gene_variant SKCA-BR 4 120160076 120160076 single base substitution G T intron_variant SKCA-BR 4 120160076 120160076 single base substitution G T upstream_gene_variant SKCA-BR 4 120162057 120162057 single base substitution C T downstream_gene_variant SKCA-BR 4 120162057 120162057 single base substitution C T intron_variant SKCA-BR 4 120163055 120163055 single base substitution C T downstream_gene_variant SKCA-BR 4 120163055 120163055 single base substitution C T intron_variant SKCA-BR 4 120164401 120164401 single base substitution C T downstream_gene_variant SKCA-BR 4 120164401 120164401 single base substitution C T intron_variant SKCA-BR 4 120166688 120166688 single base substitution G T intron_variant SKCA-BR 4 120166823 120166823 single base substitution C T intron_variant SKCA-BR 4 120166937 120166937 single base substitution C T intron_variant SKCA-BR 4 120168554 120168554 single base substitution C T intron_variant SKCA-BR 4 120169639 120169639 single base substitution A T intron_variant SKCA-BR 4 120172774 120172774 single base substitution C T intron_variant SKCA-BR 4 120175032 120175032 single base substitution A T intron_variant SKCA-BR 4 120176264 120176264 single base substitution A G intron_variant SKCA-BR 4 120177522 120177522 single base substitution G T splice_region_variant SKCA-BR 4 120178194 120178194 single base substitution C T intron_variant SKCA-BR 4 120178194 120178194 single base substitution C T upstream_gene_variant SKCA-BR 4 120179437 120179437 single base substitution T C intron_variant SKCA-BR 4 120179437 120179437 single base substitution T C upstream_gene_variant SKCA-BR 4 120181691 120181691 single base substitution C T exon_variant SKCA-BR 4 120181691 120181691 single base substitution C T synonymous_variant R235R 705C>T SKCA-BR 4 120181691 120181691 single base substitution C T upstream_gene_variant SKCA-BR 4 120183489 120183489 single base substitution C T intron_variant SKCA-BR 4 120184800 120184800 single base substitution C T intron_variant SKCA-BR 4 120184800 120184800 single base substitution C T upstream_gene_variant SKCA-BR 4 120186825 120186825 insertion of <=200bp - AAACAACAAC intron_variant SKCA-BR 4 120186825 120186825 insertion of <=200bp - AAACAACAAC upstream_gene_variant SKCA-BR 4 120187397 120187397 single base substitution C T intron_variant SKCA-BR 4 120187397 120187397 single base substitution C T upstream_gene_variant SKCA-BR 4 120194470 120194471 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 4 120194470 120194471 deletion of <=200bp CA - exon_variant SKCA-BR 4 120194470 120194471 deletion of <=200bp CA - intron_variant SKCA-BR 4 120195286 120195286 single base substitution G A downstream_gene_variant SKCA-BR 4 120195286 120195286 single base substitution G A intron_variant SKCA-BR 4 120195287 120195287 single base substitution T A downstream_gene_variant SKCA-BR 4 120195287 120195287 single base substitution T A intron_variant SKCA-BR 4 120197221 120197221 single base substitution G T downstream_gene_variant SKCA-BR 4 120197221 120197221 single base substitution G T intron_variant SKCA-BR 4 120199418 120199418 single base substitution G T downstream_gene_variant SKCA-BR 4 120199418 120199418 single base substitution G T intron_variant SKCA-BR 4 120200465 120200465 single base substitution C T intron_variant SKCA-BR 4 120200545 120200545 single base substitution G T intron_variant SKCA-BR 4 120203914 120203914 single base substitution C T intron_variant SKCA-BR 4 120208834 120208834 single base substitution T C intron_variant SKCA-BR 4 120209683 120209683 single base substitution T C intron_variant SKCA-BR 4 120209946 120209946 single base substitution A T intron_variant SKCA-BR 4 120210651 120210651 single base substitution G A intron_variant SKCA-BR 4 120212308 120212308 single base substitution A C intron_variant SKCA-BR 4 120213443 120213443 single base substitution C T intron_variant SKCM-US 4 120177660 120177660 single base substitution T A exon_variant SKCM-US 4 120177660 120177660 single base substitution T A missense_variant I184N 551T>A SKCM-US 4 120182982 120182982 single base substitution C T exon_variant SKCM-US 4 120182982 120182982 single base substitution C T missense_variant S312F 935C>T SKCM-US 4 120189539 120189539 single base substitution C T 3_prime_UTR_variant SKCM-US 4 120189539 120189539 single base substitution C T exon_variant SKCM-US 4 120189539 120189539 single base substitution C T missense_variant R418W 1252C>T SKCM-US 4 120190984 120190984 single base substitution G A 3_prime_UTR_variant SKCM-US 4 120190984 120190984 single base substitution G A exon_variant SKCM-US 4 120190984 120190984 single base substitution G A missense_variant R476Q 1427G>A SKCM-US 4 120192591 120192591 single base substitution C T 3_prime_UTR_variant SKCM-US 4 120192591 120192591 single base substitution C T downstream_gene_variant SKCM-US 4 120192591 120192591 single base substitution C T exon_variant SKCM-US 4 120192591 120192591 single base substitution C T stop_gained R526* 1576C>T SKCM-US 4 120192649 120192649 single base substitution A T 3_prime_UTR_variant SKCM-US 4 120192649 120192649 single base substitution A T downstream_gene_variant SKCM-US 4 120192649 120192649 single base substitution A T exon_variant SKCM-US 4 120192649 120192649 single base substitution A T missense_variant K545I 1634A>T SKCM-US 4 120192980 120192980 single base substitution C T 3_prime_UTR_variant SKCM-US 4 120192980 120192980 single base substitution C T downstream_gene_variant SKCM-US 4 120192980 120192980 single base substitution C T exon_variant SKCM-US 4 120192980 120192980 single base substitution C T synonymous_variant S655S 1965C>T SKCM-US 4 120214168 120214168 single base substitution G A 3_prime_UTR_variant SKCM-US 4 120214168 120214168 single base substitution G A synonymous_variant Q1008Q 3024G>A STAD-US 4 120161049 120161049 single base substitution C T downstream_gene_variant STAD-US 4 120161049 120161049 single base substitution C T exon_variant STAD-US 4 120161049 120161049 single base substitution C T synonymous_variant S45S 135C>T STAD-US 4 120177442 120177442 single base substitution C G exon_variant STAD-US 4 120177442 120177442 single base substitution C G missense_variant S138R 414C>G STAD-US 4 120177651 120177651 single base substitution T C exon_variant STAD-US 4 120177651 120177651 single base substitution T C missense_variant V181A 542T>C STAD-US 4 120177654 120177654 single base substitution G A exon_variant STAD-US 4 120177654 120177654 single base substitution G A missense_variant R182Q 545G>A STAD-US 4 120181691 120181691 single base substitution C T exon_variant STAD-US 4 120181691 120181691 single base substitution C T synonymous_variant R235R 705C>T STAD-US 4 120181691 120181691 single base substitution C T upstream_gene_variant STAD-US 4 120182871 120182871 deletion of <=200bp T - frameshift_variant L275 STAD-US 4 120182871 120182871 deletion of <=200bp T - splice_region_variant STAD-US 4 120182871 120182871 deletion of <=200bp T - upstream_gene_variant STAD-US 4 120189470 120189470 single base substitution G C 3_prime_UTR_variant STAD-US 4 120189470 120189470 single base substitution G C exon_variant STAD-US 4 120189470 120189470 single base substitution G C missense_variant G395R 1183G>C STAD-US 4 120192574 120192574 single base substitution G A 3_prime_UTR_variant STAD-US 4 120192574 120192574 single base substitution G A downstream_gene_variant STAD-US 4 120192574 120192574 single base substitution G A exon_variant STAD-US 4 120192574 120192574 single base substitution G A missense_variant R520Q 1559G>A STAD-US 4 120192602 120192602 single base substitution A G 3_prime_UTR_variant STAD-US 4 120192602 120192602 single base substitution A G downstream_gene_variant STAD-US 4 120192602 120192602 single base substitution A G exon_variant STAD-US 4 120192602 120192602 single base substitution A G synonymous_variant A529A 1587A>G STAD-US 4 120192809 120192809 single base substitution T C 3_prime_UTR_variant STAD-US 4 120192809 120192809 single base substitution T C downstream_gene_variant STAD-US 4 120192809 120192809 single base substitution T C exon_variant STAD-US 4 120192809 120192809 single base substitution T C synonymous_variant S598S 1794T>C STAD-US 4 120193037 120193037 single base substitution G A 3_prime_UTR_variant STAD-US 4 120193037 120193037 single base substitution G A downstream_gene_variant STAD-US 4 120193037 120193037 single base substitution G A exon_variant STAD-US 4 120193037 120193037 single base substitution G A synonymous_variant V674V 2022G>A STAD-US 4 120213820 120213820 single base substitution G A 3_prime_UTR_variant STAD-US 4 120213820 120213820 single base substitution G A synonymous_variant E892E 2676G>A STAD-US 4 120221497 120221497 insertion of <=200bp - A downstream_gene_variant THCA-SA 4 120133892 120133892 single base substitution T C 5_prime_UTR_variant THCA-SA 4 120133892 120133892 single base substitution T C exon_variant THCA-SA 4 120133892 120133892 single base substitution T C upstream_gene_variant THCA-SA 4 120192864 120192864 single base substitution C T 3_prime_UTR_variant THCA-SA 4 120192864 120192864 single base substitution C T downstream_gene_variant THCA-SA 4 120192864 120192864 single base substitution C T exon_variant THCA-SA 4 120192864 120192864 single base substitution C T missense_variant P617S 1849C>T UCEC-US 4 120181690 120181690 single base substitution G A exon_variant UCEC-US 4 120181690 120181690 single base substitution G A missense_variant R235H 704G>A UCEC-US 4 120181690 120181690 single base substitution G A upstream_gene_variant UCEC-US 4 120188515 120188515 single base substitution G A 3_prime_UTR_variant UCEC-US 4 120188515 120188515 single base substitution G A exon_variant UCEC-US 4 120188515 120188515 single base substitution G A missense_variant R338Q 1013G>A UCEC-US 4 120188515 120188515 single base substitution G A upstream_gene_variant UCEC-US 4 120192462 120192462 single base substitution G T 3_prime_UTR_variant UCEC-US 4 120192462 120192462 single base substitution G T exon_variant UCEC-US 4 120192462 120192462 single base substitution G T stop_gained E483* 1447G>T UCEC-US 4 120192849 120192849 single base substitution A C 3_prime_UTR_variant UCEC-US 4 120192849 120192849 single base substitution A C downstream_gene_variant UCEC-US 4 120192849 120192849 single base substitution A C exon_variant UCEC-US 4 120192849 120192849 single base substitution A C missense_variant N612H 1834A>C UCEC-US 4 120192867 120192867 single base substitution A G 3_prime_UTR_variant UCEC-US 4 120192867 120192867 single base substitution A G downstream_gene_variant UCEC-US 4 120192867 120192867 single base substitution A G exon_variant UCEC-US 4 120192867 120192867 single base substitution A G missense_variant K618E 1852A>G UCEC-US 4 120193173 120193173 single base substitution G T 3_prime_UTR_variant UCEC-US 4 120193173 120193173 single base substitution G T downstream_gene_variant UCEC-US 4 120193173 120193173 single base substitution G T exon_variant UCEC-US 4 120193173 120193173 single base substitution G T stop_gained E720* 2158G>T UCEC-US 4 120213569 120213569 single base substitution G T 3_prime_UTR_variant UCEC-US 4 120213569 120213569 single base substitution G T stop_gained E809* 2425G>T UCEC-US 4 120213657 120213657 single base substitution G T 3_prime_UTR_variant UCEC-US 4 120213657 120213657 single base substitution G T missense_variant R838I 2513G>T UCEC-US 4 120213660 120213660 single base substitution C A 3_prime_UTR_variant UCEC-US 4 120213660 120213660 single base substitution C A missense_variant T839K 2516C>A UCEC-US 4 120214088 120214088 single base substitution C T 3_prime_UTR_variant UCEC-US 4 120214088 120214088 single base substitution C T missense_variant H982Y 2944C>T UCEC-US 4 120221530 120221530 single base substitution A G downstream_gene_variant UCEC-US 4 120221635 120221635 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B47-Tumor COSM1753506 c.1707A>T p.R569S Substitution - Missense 4:119271567-119271567 + DLD1 COSM4625226 c.2906C>T p.P969L Substitution - Missense 4:119292895-119292895 + pfg008T COSM4760671 c.547T>C p.Y183H Substitution - Missense 4:119256501-119256501 + 6115237 COSM5556744 c.2354A>G p.H785R Substitution - Missense 4:119292343-119292343 + HCA7 COSM3008053 c.3138G>A p.T1046T Substitution - coding silent 4:119293127-119293127 + 91698 COSM330451 c.1967T>G p.L656R Substitution - Missense 4:119271827-119271827 + 2492714 COSM1186640 c.818C>T p.P273L Substitution - Missense 4:119260649-119260649 + PS-286-4D COSM4423756 c.475C>G p.L159V Substitution - Missense 4:119256348-119256348 + TCGA-AG-A002-01 COSM264623 c.173G>A p.R58Q Substitution - Missense 4:119245365-119245365 + TCGA-AM-5820-01 COSM3696406 c.1510A>T p.N504Y Substitution - Missense 4:119271370-119271370 + MMG1 COSM3008032 c.1413A>T p.R471S Substitution - Missense 4:119269815-119269815 + 010-0028-02TD COSM5416823 c.1623T>C p.A541A Substitution - coding silent 4:119271483-119271483 + Gp2D COSM4628248 c.826T>C p.F276L Substitution - Missense 4:119261718-119261718 + MD-034 COSM303535 c.707G>T p.R236L Substitution - Missense 4:119260538-119260538 + STC252 COSM5060084 c.2795C>T p.T932I Substitution - Missense 4:119292784-119292784 + TCGA-BR-4362-01 COSM4121622 c.1183G>C p.G395R Substitution - Missense 4:119268315-119268315 + RMS88_ COSM264623 c.173G>A p.R58Q Substitution - Missense 4:119245365-119245365 + LS411 COSM3007997 c.20T>C p.L7S Substitution - Missense 4:119239779-119239779 + B47 COSM1753506 c.1707A>T p.R569S Substitution - Missense 4:119271567-119271567 + RK001_C01 COSM1633432 c.1933G>A p.E645K Substitution - Missense 4:119271793-119271793 + TCGA-A2-A0D1-01 COSM447284 c.636A>G p.L212L Substitution - coding silent 4:119259886-119259886 + HCC059T COSM5809817 c.1231G>T p.D411Y Substitution - Missense 4:119268363-119268363 + 0037_CRUK_PC_0037_T1_DNA COSM5423242 c.2504A>C p.N835T Substitution - Missense 4:119292493-119292493 + S0091 COSM5883918 c.1661A>G p.N554S Substitution - Missense 4:119271521-119271521 + PTC-14C COSM4158768 c.2023C>A p.H675N Substitution - Missense 4:119271883-119271883 + TCGA-BP-5173-01 COSM480790 c.858T>C p.N286N Substitution - coding silent 4:119261750-119261750 + RK059_C01 COSM3767669 c.134G>A p.S45N Substitution - Missense 4:119239893-119239893 + LIM2405 COSM4642836 c.1019A>G p.H340R Substitution - Missense 4:119267366-119267366 + TCGA-AA-3812-01 COSM270738 c.1786A>G p.I596V Substitution - Missense 4:119271646-119271646 + 041T COSM1729408 c.984A>T p.R328S Substitution - Missense 4:119267331-119267331 + pfg057T COSM4747810 c.946delT p.F317fs*6 Deletion - Frameshift 4:119261838-119261838 + TCGA-LG-A6GG-01 COSM3008029 c.1203G>A p.K401K Substitution - coding silent 4:119268335-119268335 + PD6755a COSM1637880 c.1228A>G p.T410A Substitution - Missense 4:119268360-119268360 + Gp2D COSM4628247 c.508G>A p.A170T Substitution - Missense 4:119256462-119256462 + CSCC-10-T COSM4468874 c.1568C>T p.P523L Substitution - Missense 4:119271428-119271428 + LUAD-RT-S01769 COSM381017 c.3008C>G p.S1003* Substitution - Nonsense 4:119292997-119292997 + TCGA-DD-A73E-01 COSM4912999 c.941G>T p.W314L Substitution - Missense 4:119261833-119261833 + TCGA-66-2768-01 COSM732840 c.1460A>T p.H487L Substitution - Missense 4:119271320-119271320 + TCGA-AP-A056-01 COSM1050450 c.1852A>G p.K618E Substitution - Missense 4:119271712-119271712 + TCGA-FS-A1ZA-06 COSM3599549 c.1252C>T p.R418W Substitution - Missense 4:119268384-119268384 + RMS110_ COSM4987279 c.2227C>A p.L743I Substitution - Missense 4:119273684-119273684 + 18 COSM3428085 c.2821G>A p.E941K Substitution - Missense 4:119292810-119292810 + CHC1154T COSM4952053 c.820G>A p.G274R Substitution - Missense 4:119260651-119260651 + 2521243 COSM5886376 c.1184G>A p.G395E Substitution - Missense 4:119268316-119268316 + TCGA-EE-A2GM-06 COSM3599552 c.3024G>A p.Q1008Q Substitution - coding silent 4:119293013-119293013 + 1_PRE-TREATMENT COSM1720954 c.578T>C p.V193A Substitution - Missense 4:119259828-119259828 + TCGA-D8-A1Y0-01 COSM1485630 c.2780A>T p.K927M Substitution - Missense 4:119292769-119292769 + BD124T COSM5491835 c.514T>C p.S172P Substitution - Missense 4:119256468-119256468 + TCGA-BG-A0W1-01 COSM1050441 c.486G>A p.Q162Q Substitution - coding silent 4:119256359-119256359 + CPCG0183-P2 COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + PD18285a COSM3770551 c.2193C>A p.S731R Substitution - Missense 4:119273650-119273650 + TCGA-EE-A2MR-06 COSM3599548 c.935C>T p.S312F Substitution - Missense 4:119261827-119261827 + S01861 COSM5671320 c.1588C>T p.Q530* Substitution - Nonsense 4:119271448-119271448 + HCC2998 COSM3008014 c.689A>G p.Q230R Substitution - Missense 4:119260520-119260520 + TCGA-BR-4368-01 COSM4121619 c.542T>C p.V181A Substitution - Missense 4:119256496-119256496 + TCGA-BR-4361-01 COSM4121623 c.1587A>G p.A529A Substitution - coding silent 4:119271447-119271447 + 587222 COSM1232097 c.2692G>T p.E898* Substitution - Nonsense 4:119292681-119292681 + TCGA-ER-A19K-01 COSM3599551 c.1965C>T p.S655S Substitution - coding silent 4:119271825-119271825 + TCGA-BR-8680-01 COSM4121626 c.2676G>A p.E892E Substitution - coding silent 4:119292665-119292665 + 2492712 COSM1186640 c.818C>T p.P273L Substitution - Missense 4:119260649-119260649 + CHC1154T COSM4952053 c.820G>A p.G274R Substitution - Missense 4:119260651-119260651 + S02255 COSM5680791 c.178T>C p.L60L Substitution - coding silent 4:119245370-119245370 + ATL036 COSM1288862 c.791G>A p.R264Q Substitution - Missense 4:119260622-119260622 + BK0051 COSM4188017 c.304C>G p.L102V Substitution - Missense 4:119248814-119248814 + TCGA-DB-A64V-01 COSM3974684 c.1676A>G p.D559G Substitution - Missense 4:119271536-119271536 + YUPLA COSM5400375 c.3016G>A p.D1006N Substitution - Missense 4:119293005-119293005 + BD57T COSM5510033 c.1708G>T p.G570* Substitution - Nonsense 4:119271568-119271568 + 2293782 COSM4609031 c.1958G>T p.R653I Substitution - Missense 4:119271818-119271818 + 10-P083 COSM4584752 c.648T>C p.N216N Substitution - coding silent 4:119259898-119259898 + 2492711 COSM1186640 c.818C>T p.P273L Substitution - Missense 4:119260649-119260649 + TCGA-F1-6874-01 COSM4121624 c.1794T>C p.S598S Substitution - coding silent 4:119271654-119271654 + LC_C6 COSM1186640 c.818C>T p.P273L Substitution - Missense 4:119260649-119260649 + YUNEXUS COSM5400374 c.2327_2328insA p.N778fs*11 Insertion - Frameshift 4:119291240-119291241 + B34 COSM1753507 c.2507C>G p.S836C Substitution - Missense 4:119292496-119292496 + TCGA-AR-A24N-01 COSM1485629 c.2082C>T p.I694I Substitution - coding silent 4:119271942-119271942 + TCGA-AP-A056-01 COSM1050452 c.2158G>T p.E720* Substitution - Nonsense 4:119272018-119272018 + HCA7 COSM4630922 c.2696G>A p.C899Y Substitution - Missense 4:119292685-119292685 + 2497776 COSM5750659 c.817C>T p.P273S Substitution - Missense 4:119260648-119260648 + RKO COSM3008022 c.853delA p.N286fs*9 Deletion - Frameshift 4:119261745-119261745 + TCGA-CS-6665-01 COSM3974685 c.2937T>A p.D979E Substitution - Missense 4:119292926-119292926 + HCC2218 COSM24320 c.3149G>A p.R1050K Substitution - Missense 4:119293138-119293138 + I2L-P19Ta-Tumor-Biopsy COSM5355881 c.1897C>A p.P633T Substitution - Missense 4:119271757-119271757 + RMS85_ COSM264623 c.173G>A p.R58Q Substitution - Missense 4:119245365-119245365 + TARGET-30-PASZPI COSM1288862 c.791G>A p.R264Q Substitution - Missense 4:119260622-119260622 + STC291 COSM5060085 c.3208A>T p.N1070Y Substitution - Missense 4:119293197-119293197 + TCGA-BR-6452-01 COSM4121621 c.705C>T p.R235R Substitution - coding silent 4:119260536-119260536 + 19 COSM5746335 c.3208A>G p.N1070D Substitution - Missense 4:119293197-119293197 + TCGA-EE-A2GT-06 COSM3008034 c.1427G>A p.R476Q Substitution - Missense 4:119269829-119269829 + TCGA-29-1696-01 COSM1328716 c.1247C>G p.S416C Substitution - Missense 4:119268379-119268379 + TCGA-AK-3450-01 COSM3365479 c.3019T>A p.F1007I Substitution - Missense 4:119293008-119293008 + T3152 COSM4739924 c.1301A>G p.H434R Substitution - Missense 4:119269703-119269703 + 323-01-1TD COSM146085 c.1739G>A p.R580Q Substitution - Missense 4:119271599-119271599 + TCGA-BS-A0UV-01 COSM1050454 c.2425G>T p.E809* Substitution - Nonsense 4:119292414-119292414 + TCGA-AA-A010-01 COSM286408 c.1013G>A p.R338Q Substitution - Missense 4:119267360-119267360 + TCGA-EE-A2MJ-06 COSM3599550 c.1634A>T p.K545I Substitution - Missense 4:119271494-119271494 + PD18286a COSM3770645 c.1132A>G p.M378V Substitution - Missense 4:119267479-119267479 + TCGA-AO-A0JD-01 COSM447287 c.1505A>G p.H502R Substitution - Missense 4:119271365-119271365 + TCGA-AP-A051-01 COSM1050448 c.1834A>C p.N612H Substitution - Missense 4:119271694-119271694 + I2L-P10-Tumor-Organoid COSM24320 c.3149G>A p.R1050K Substitution - Missense 4:119293138-119293138 + Pat_24_B COSM5865629 c.127C>T p.L43F Substitution - Missense 4:119239886-119239886 + TCGA-A6-4105-01 COSM1426576 c.859A>G p.S287G Substitution - Missense 4:119261751-119261751 + PD1582a COSM25716 c.951T>G p.F317L Substitution - Missense 4:119261843-119261843 + 7313 COSM5617198 c.486+9G>A p.? Unknown 4:119256368-119256368 + 39 COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + TCGA-BS-A0UF-01 COSM1050456 c.2513G>T p.R838I Substitution - Missense 4:119292502-119292502 + CSCC-27-T COSM4509485 c.808C>T p.L270F Substitution - Missense 4:119260639-119260639 + 367 COSM3724119 c.2579C>T p.S860F Substitution - Missense 4:119292568-119292568 + TCGA-AA-A00N-01 COSM278050 c.1634A>C p.K545T Substitution - Missense 4:119271494-119271494 + TCGA-B5-A11E-01 COSM1050443 c.704G>A p.R235H Substitution - Missense 4:119260535-119260535 + ME011T COSM224266 c.215C>T p.A72V Substitution - Missense 4:119245407-119245407 + 1_RESISTANT COSM1720954 c.578T>C p.V193A Substitution - Missense 4:119259828-119259828 + RK029_C01 COSM1633431 c.1225C>A p.P409T Substitution - Missense 4:119268357-119268357 + 2492713 COSM1186640 c.818C>T p.P273L Substitution - Missense 4:119260649-119260649 + BK0018 COSM4186071 c.235_237+10delAAGGTAACCTTTT p.? Unknown 4:119245427-119245439 + B34-Tumor COSM1753507 c.2507C>G p.S836C Substitution - Missense 4:119292496-119292496 + Capan-1 COSM328153 c.3015C>T p.N1005N Substitution - coding silent 4:119293004-119293004 + 721LT COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + SKCO-1 COSM3008042 c.2235C>G p.S745R Substitution - Missense 4:119273692-119273692 + GC8_T COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + FM403T COSM673922 c.626C>T p.A209V Substitution - Missense 4:119259876-119259876 + PS-286-7D COSM4423756 c.475C>G p.L159V Substitution - Missense 4:119256348-119256348 + TCGA-DM-A28F-01 COSM1426582 c.2679C>G p.N893K Substitution - Missense 4:119292668-119292668 + Au3 COSM5602585 c.2748T>A p.F916L Substitution - Missense 4:119292737-119292737 + 2492729 COSM5727548 c.1743C>T p.N581N Substitution - coding silent 4:119271603-119271603 + Pat_24_A COSM5865629 c.127C>T p.L43F Substitution - Missense 4:119239886-119239886 + TCGA-EI-6917-01 COSM3008015 c.703C>T p.R235C Substitution - Missense 4:119260534-119260534 + C086 COSM5541501 c.1226C>T p.P409L Substitution - Missense 4:119268358-119268358 + 1T COSM110573 c.400C>T p.H134Y Substitution - Missense 4:119256273-119256273 + CPCG0184-P3 COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + 0110_CRUK_PC_0110_T1_DNA COSM5423998 c.18C>G p.F6L Substitution - Missense 4:119239777-119239777 + TCGA-DD-A3A9-01 COSM4920753 c.1936A>T p.M646L Substitution - Missense 4:119271796-119271796 + LOVO COSM3008000 c.154C>T p.Q52* Substitution - Nonsense 4:119245346-119245346 + RK029_C COSM1633431 c.1225C>A p.P409T Substitution - Missense 4:119268357-119268357 + I2L-P19Ta-Tumor-Organoid COSM5355881 c.1897C>A p.P633T Substitution - Missense 4:119271757-119271757 + T2269 COSM4739925 c.2477A>C p.K826T Substitution - Missense 4:119292466-119292466 + TCGA-BR-4368-01 COSM4121625 c.2022G>A p.V674V Substitution - coding silent 4:119271882-119271882 + 2293776 COSM4607849 c.57G>T p.Q19H Substitution - Missense 4:119239816-119239816 + PS-286-5D COSM4423756 c.475C>G p.L159V Substitution - Missense 4:119256348-119256348 + 116 COSM5011332 c.1392A>T p.K464N Substitution - Missense 4:119269794-119269794 + TCGA-IR-A3LK-01 COSM4817717 c.1570C>T p.Q524* Substitution - Nonsense 4:119271430-119271430 + TCGA-F5-6814-01 COSM3428085 c.2821G>A p.E941K Substitution - Missense 4:119292810-119292810 + HCC2998 COSM1671242 c.1177G>T p.E393* Substitution - Nonsense 4:119268309-119268309 + PT23_1 COSM110573 c.400C>T p.H134Y Substitution - Missense 4:119256273-119256273 + DLD1 COSM4625225 c.300T>C p.H100H Substitution - coding silent 4:119248810-119248810 + SNUH_G26_S1 COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + TCGA-EE-A2GR-06 COSM3599547 c.551T>A p.I184N Substitution - Missense 4:119256505-119256505 + TCGA-DI-A0WH-01 COSM1050460 c.2592T>C p.S864S Substitution - coding silent 4:119292581-119292581 + SC_9081 COSM5561104 c.1510A>G p.N504D Substitution - Missense 4:119271370-119271370 + CLN2 COSM5024776 c.544C>T p.R182W Substitution - Missense 4:119256498-119256498 + TCGA-AN-A046-01 COSM3825055 c.1969G>T p.E657* Substitution - Nonsense 4:119271829-119271829 + ESCC_BICR_038T COSM5434606 c.443delC p.S148fs*10 Deletion - Frameshift 4:119256316-119256316 + TCGA-D5-6541-01 COSM1426581 c.1518T>C p.H506H Substitution - coding silent 4:119271378-119271378 + PS-286-3D COSM4423756 c.475C>G p.L159V Substitution - Missense 4:119256348-119256348 + TCGA-BR-4257-01 COSM4121620 c.545G>A p.R182Q Substitution - Missense 4:119256499-119256499 + PT44 COSM5926494 c.2704C>T p.R902W Substitution - Missense 4:119292693-119292693 + Z138 COSM1739003 c.883A>G p.I295V Substitution - Missense 4:119261775-119261775 + TCGA-HU-A4GU-01 COSM4121617 c.135C>T p.S45S Substitution - coding silent 4:119239894-119239894 + TCGA-AR-A0TX-01 COSM447286 c.1348C>G p.L450V Substitution - Missense 4:119269750-119269750 + SW1116 COSM3008037 c.1651delA p.K551fs*37 Deletion - Frameshift 4:119271511-119271511 + C106 COSM4616311 c.2525C>G p.P842R Substitution - Missense 4:119292514-119292514 + pfg016T COSM1642389 c.1295T>C p.L432S Substitution - Missense 4:119269697-119269697 + TCGA-AR-A2LE-01 COSM3825056 c.2362G>A p.E788K Substitution - Missense 4:119292351-119292351 + CLL141 COSM1291811 c.221T>C p.I74T Substitution - Missense 4:119245413-119245413 + TCGA-D1-A16X-01 COSM1050446 c.1447G>T p.E483* Substitution - Nonsense 4:119271307-119271307 + HCT8 COSM4635080 c.3178T>G p.S1060A Substitution - Missense 4:119293167-119293167 + HCC2998 COSM1671242 c.1177G>T p.E393* Substitution - Nonsense 4:119268309-119268309 + LUAD-RT-S01771 COSM381210 c.1009A>T p.I337F Substitution - Missense 4:119267356-119267356 + 40M COSM5586979 c.2005C>T p.L669F Substitution - Missense 4:119271865-119271865 + sysucc-311T COSM5466037 c.332G>A p.R111Q Substitution - Missense 4:119248842-119248842 + TCGA-BS-A0UV-01 COSM286408 c.1013G>A p.R338Q Substitution - Missense 4:119267360-119267360 + TCGA-FP-7735-01 COSM4121618 c.414C>G p.S138R Substitution - Missense 4:119256287-119256287 + TCGA-C5-A1BK-01 COSM4826280 c.310G>A p.E104K Substitution - Missense 4:119248820-119248820 + TCGA-AP-A059-01 COSM1050462 c.2944C>T p.H982Y Substitution - Missense 4:119292933-119292933 + C0021T COSM1426583 c.3148A>G p.R1050G Substitution - Missense 4:119293137-119293137 + NB-1092 COSM381210 c.1009A>T p.I337F Substitution - Missense 4:119267356-119267356 + CPCG0184-P2 COSM149731 c.2886T>G p.S962R Substitution - Missense 4:119292875-119292875 + TCGA-FU-A3HZ-01 COSM3008026 c.1012C>T p.R338* Substitution - Nonsense 4:119267359-119267359 + CSCC-11-T COSM4472051 c.1757C>T p.P586L Substitution - Missense 4:119271617-119271617 + TCGA-FW-A3R5-06 COSM3917047 c.1576C>T p.R526* Substitution - Nonsense 4:119271436-119271436 + TCGA-DK-A1A6-01 COSM1309653 c.767C>G p.S256C Substitution - Missense 4:119260598-119260598 + TCGA-B5-A11H-01 COSM1050458 c.2516C>A p.T839K Substitution - Missense 4:119292505-119292505 + TCGA-AX-A0J0-01 COSM1050452 c.2158G>T p.E720* Substitution - Nonsense 4:119272018-119272018 + TCGA-BR-8680-01 COSM3008036 c.1559G>A p.R520Q Substitution - Missense 4:119271419-119271419 + TCGA-B0-4841-01 COSM3365478 c.1806A>C p.K602N Substitution - Missense 4:119271666-119271666 + TCGA-13-1498-01 COSM76974 c.1192G>C p.D398H Substitution - Missense 4:119268324-119268324 + 323 COSM146085 c.1739G>A p.R580Q Substitution - Missense 4:119271599-119271599 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.431081 4q26 Hs.595338;Hs.595341;Hs.595342;Hs.595343;Hs.595344;Hs.595348;Hs.595349;Hs.595351;Hs.595356;Hs.595357;Hs.595359;Hs.595360;Hs.595366;Hs.595367;Hs.595368 4q26

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K602N c.1806A>C 4 120192821 RCCC A G Missense p.H502R c.1505A>G 4 120192520 BRCA A G Missense p.I596V c.1786A>G 4 120192801 COREAD A G Missense p.I81M c.243A>G 4 120169908 HNSC A G Missense p.T556A c.1666A>G 4 120192681 CM A G Synonymous p.K147K c.441A>G 4 120177469 HNSC A G Synonymous p.L212L c.636A>G 4 120181041 BRCA A G Synonymous p.Q462Q c.1386A>G 4 120190943 HNSC A T Missense p.H487L c.1460A>T 4 120192475 LUSC A T Missense p.I337F c.1009A>T 4 120188511 NB A T Missense p.K545I c.1634A>T 4 120192649 CM A T Missense p.K927M c.2780A>T 4 120213924 BRCA C A Missense p.P409T c.1225C>A 4 120189512 HC C A Missense p.T839K c.2516C>A 4 120213660 UCEC CC TT Synonymous p.(=) c.2196_2197delinsTT 4 120194808 CM C G IntronicSNV . c.570-1172C>G 4 120179803 CLL C G Missense p.I885M c.2655C>G 4 120213799 LUAD C G Missense p.S256C c.767C>G 4 120181753 BLCA C G Missense p.S848C c.2543C>G 4 120213687 HNSC CT - Frameshift p.S848Cfs*9 c.2543_2544delCT 4 120213685 GBM C T Missense p.A72V c.215C>T 4 120166562 CM C T Missense p.R235C c.703C>T 4 120181689 CM C T Missense p.R418W c.1252C>T 4 120189539 CM C T Missense p.S860F c.2579C>T 4 120213723 HNSC C T Synonymous p.I694I c.2082C>T 4 120193097 BRCA C T Synonymous p.S655S c.1965C>T 4 120192980 CM G A IntronicSNV . c.486+9G>A 4 120177523 NSCLC G A Missense p.E645K c.1933G>A 4 120192948 HC G A Missense p.E837K c.2509G>A 4 120213653 LUAD G A Missense p.R166H c.497G>A 4 120177606 STAD G A Missense p.R182Q c.545G>A 4 120177654 STAD G A Missense p.R264Q c.791G>A 4 120181777 NB G A Missense p.R438K c.1313G>A 4 120190870 CM G A Missense p.R476Q c.1427G>A 4 120190984 CM G A Missense p.R580Q c.1739G>A 4 120192754 CLL G A Synonymous p.P623P c.1869G>A 4 120192884 STAD G A Synonymous p.Q1008Q c.3024G>A 4 120214168 CM G A Synonymous p.V674V c.2022G>A 4 120193037 STAD G C Missense p.D398H c.1192G>C 4 120189479 OV GG CT Missense p.E122* c.363_364delinsCT 4 120170028 LUAD G T Missense p.R58L c.173G>T 4 120166520 CM T A 3-UTRSNV . c.3219+2228T>A 4 120216591 CLL T A Missense p.D979E c.2937T>A 4 120214081 LGG T A Missense p.F1007I c.3019T>A 4 120214163 RCCC T A Missense p.I184N c.551T>A 4 120177660 CM T A Missense p.I295N c.884T>A 4 120182931 BRCA T C 5-UTRSNV . c.1-10T>C 4 120160905 CM T C Missense p.I74T c.221T>C 4 120166568 CLL T C Missense p.L432S c.1295T>C 4 120190852 STAD T C Missense p.V181A c.542T>C 4 120177651 STAD T C Synonymous p.N286N c.858T>C 4 120182905 RCCC T C Synonymous p.S598S c.1794T>C 4 120192809 STAD