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 12 56712211 56712211 + 5'Flank SNP C C A TCGA-OR-A5J7-01A-11D-A29I-10 TCGA-OR-A5J7-10A-01D-A29L-10 g.chr12:56712211C>A ACC 12 56716450 56716450 + Silent SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr12:56716450G>T c.2598C>A c.(2596-2598)ggC>ggA p.G866G BLCA 12 56712042 56712042 + 5'Flank SNP C C T TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr12:56712042C>T BLCA 12 56712058 56712058 + 5'Flank SNP C C G TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr12:56712058C>G BLCA 12 56712105 56712105 + 5'Flank SNP G G T TCGA-CF-A9FL-01A-11D-A38G-08 TCGA-CF-A9FL-10A-01D-A38J-08 g.chr12:56712105G>T BLCA 12 56712106 56712106 + 5'Flank SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr12:56712106G>A BLCA 12 56713447 56713447 + Missense_Mutation SNP C C A TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr12:56713447C>A c.3060G>T c.(3058-3060)gaG>gaT p.E1020D BLCA 12 56715866 56715866 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr12:56715866C>T c.2796G>A c.(2794-2796)ctG>ctA p.L932L BLCA 12 56716212 56716212 + Missense_Mutation SNP C C T TCGA-GV-A3JW-01A-11D-A20D-08 TCGA-GV-A3JW-10A-01D-A20D-08 g.chr12:56716212C>T c.2704G>A c.(2704-2706)Gat>Aat p.D902N BLCA 12 56716974 56716974 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:56716974C>T c.2377G>A c.(2377-2379)Gag>Aag p.E793K BLCA 12 56717846 56717846 + Silent SNP G G C TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr12:56717846G>C c.2052C>G c.(2050-2052)ctC>ctG p.L684L BLCA 12 56718262 56718262 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr12:56718262G>A c.1744C>T c.(1744-1746)Cgg>Tgg p.R582W BLCA 12 56718405 56718405 + Missense_Mutation SNP A A T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr12:56718405A>T c.1688T>A c.(1687-1689)cTg>cAg p.L563Q BLCA 12 56720165 56720165 + Missense_Mutation SNP G G C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr12:56720165G>C c.1291C>G c.(1291-1293)Ctg>Gtg p.L431V BLCA 12 56720454 56720454 + Silent SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr12:56720454G>A c.1209C>T c.(1207-1209)acC>acT p.T403T BLCA 12 56720472 56720472 + Silent SNP G G A TCGA-DK-AA76-01A-11D-A391-08 TCGA-DK-AA76-10A-01D-A394-08 g.chr12:56720472G>A c.1191C>T c.(1189-1191)ctC>ctT p.L397L BLCA 12 56720491 56720491 + Missense_Mutation SNP T T A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr12:56720491T>A c.1172A>T c.(1171-1173)gAc>gTc p.D391V BLCA 12 56720504 56720504 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:56720504C>T c.1159G>A c.(1159-1161)Gac>Aac p.D387N BLCA 12 56720612 56720612 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:56720612C>T c.1051G>A c.(1051-1053)Gag>Aag p.E351K BLCA 12 56720613 56720613 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 g.chr12:56720613A>G c.1050T>C c.(1048-1050)tcT>tcC p.S350S BLCA 12 56720730 56720730 + Frame_Shift_Del DEL G G - TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr12:56720730delG c.933delC c.(931-933)ttcfs p.F311fs BLCA 12 56721348 56721348 + Nonsense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr12:56721348G>C c.719C>G c.(718-720)tCa>tGa p.S240* BLCA 12 56721370 56721370 + Missense_Mutation SNP C C G TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr12:56721370C>G c.697G>C c.(697-699)Gat>Cat p.D233H BLCA 12 56721411 56721411 + Missense_Mutation SNP G G A TCGA-ZF-A9RG-01A-21D-A42E-08 TCGA-ZF-A9RG-10A-01D-A42H-08 g.chr12:56721411G>A c.656C>T c.(655-657)tCc>tTc p.S219F BLCA 12 56721825 56721825 + Missense_Mutation SNP A A T TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr12:56721825A>T c.605T>A c.(604-606)aTg>aAg p.M202K BLCA 12 56721847 56721847 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr12:56721847C>G c.583G>C c.(583-585)Gag>Cag p.E195Q BLCA 12 56722090 56722090 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr12:56722090G>C c.505C>G c.(505-507)Cta>Gta p.L169V BLCA 12 56722102 56722102 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr12:56722102C>T c.493G>A c.(493-495)Gac>Aac p.D165N BLCA 12 56722297 56722297 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:56722297G>A c.411C>T c.(409-411)ctC>ctT p.L137L BLCA 12 56722374 56722374 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr12:56722374G>C c.334C>G c.(334-336)Caa>Gaa p.Q112E BRCA 12 56713158 56713158 + Silent SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr12:56713158G>A c.3216C>T c.(3214-3216)ctC>ctT p.L1072L BRCA 12 56713711 56713711 + Silent SNP C C T TCGA-D8-A13Y-01A-11D-A10Y-09 TCGA-D8-A13Y-10A-01D-A110-09 g.chr12:56713711C>T c.2895G>A c.(2893-2895)ctG>ctA p.L965L BRCA 12 56718085 56718085 + Nonsense_Mutation SNP C C A TCGA-BH-A18J-01A-11D-A12B-09 TCGA-BH-A18J-11A-31D-A12B-09 g.chr12:56718085C>A c.1921G>T c.(1921-1923)Gga>Tga p.G641* BRCA 12 56720159 56720159 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:56720159T>G c.1297A>C c.(1297-1299)Acc>Ccc p.T433P BRCA 12 56720525 56720525 + Missense_Mutation SNP C C T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr12:56720525C>T c.1138G>A c.(1138-1140)Gtg>Atg p.V380M BRCA 12 56720592 56720592 + Missense_Mutation SNP C C A TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 g.chr12:56720592C>A c.1071G>T c.(1069-1071)tgG>tgT p.W357C BRCA 12 56721335 56721335 + Silent SNP C C A TCGA-BH-A0BF-01A-21D-A12Q-09 TCGA-BH-A0BF-11A-31D-A12Q-09 g.chr12:56721335C>A c.732G>T c.(730-732)gtG>gtT p.V244V BRCA 12 56721845 56721845 + Missense_Mutation SNP C C G TCGA-C8-A27B-01A-11D-A167-09 TCGA-C8-A27B-10A-01D-A167-09 g.chr12:56721845C>G c.585G>C c.(583-585)gaG>gaC p.E195D CESC 12 56718400 56718400 + Missense_Mutation SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:56718400G>A c.1693C>T c.(1693-1695)Cac>Tac p.H565Y CESC 12 56720435 56720435 + Missense_Mutation SNP C C A TCGA-C5-A1MQ-01A-11D-A14W-08 TCGA-C5-A1MQ-10A-01D-A14W-08 g.chr12:56720435C>A c.1228G>T c.(1228-1230)Gat>Tat p.D410Y CESC 12 56722356 56722356 + Missense_Mutation SNP C C T TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr12:56722356C>T c.352G>A c.(352-354)Gat>Aat p.D118N CESC 12 56726779 56726779 + Silent SNP G G A TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr12:56726779G>A c.100C>T c.(100-102)Cta>Tta p.L34L COAD 12 56712169 56712169 + 5'Flank SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:56712169T>C COAD 12 56712897 56712897 + 5'Flank SNP C C G TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr12:56712897C>G COAD 12 56713740 56713740 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:56713740T>C c.2866A>G c.(2866-2868)Aca>Gca p.T956A COAD 12 56718265 56718265 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:56718265G>T c.1741C>A c.(1741-1743)Ctt>Att p.L581I COAD 12 56718806 56718806 + Missense_Mutation SNP T T C TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr12:56718806T>C c.1586A>G c.(1585-1587)aAc>aGc p.N529S COAD 12 56718806 56718806 + Missense_Mutation SNP T T C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr12:56718806T>C c.1586A>G c.(1585-1587)aAc>aGc p.N529S COAD 12 56718841 56718841 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COAD 12 56718841 56718841 + Silent SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COAD 12 56718841 56718841 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COAD 12 56719182 56719182 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:56719182A>G c.1416T>C c.(1414-1416)acT>acC p.T472T COADREAD 12 56712169 56712169 + 5'Flank SNP T T C TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:56712169T>C COADREAD 12 56712897 56712897 + 5'Flank SNP C C G TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr12:56712897C>G COADREAD 12 56713740 56713740 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:56713740T>C c.2866A>G c.(2866-2868)Aca>Gca p.T956A COADREAD 12 56718265 56718265 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:56718265G>T c.1741C>A c.(1741-1743)Ctt>Att p.L581I COADREAD 12 56718806 56718806 + Missense_Mutation SNP T T C TCGA-CM-4744-01A-01D-1408-10 TCGA-CM-4744-10A-01D-1408-10 g.chr12:56718806T>C c.1586A>G c.(1585-1587)aAc>aGc p.N529S COADREAD 12 56718806 56718806 + Missense_Mutation SNP T T C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr12:56718806T>C c.1586A>G c.(1585-1587)aAc>aGc p.N529S COADREAD 12 56718841 56718841 + Silent SNP A A G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COADREAD 12 56718841 56718841 + Silent SNP A A G TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COADREAD 12 56718841 56718841 + Silent SNP A A G TCGA-G4-6299-01A-11D-1771-10 TCGA-G4-6299-10A-01D-1771-10 g.chr12:56718841A>G c.1551T>C c.(1549-1551)gcT>gcC p.A517A COADREAD 12 56718842 56718842 + Missense_Mutation SNP G G A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr12:56718842G>A c.1550C>T c.(1549-1551)gCt>gTt p.A517V COADREAD 12 56719182 56719182 + Silent SNP A A G TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:56719182A>G c.1416T>C c.(1414-1416)acT>acC p.T472T DLBC 12 56712936 56712936 + 5'Flank SNP G G C TCGA-FF-A7CR-01A-11D-A382-10 TCGA-FF-A7CR-10A-01D-A385-10 g.chr12:56712936G>C ESCA 12 56720180 56720180 + Missense_Mutation SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr12:56720180C>T c.1276G>A c.(1276-1278)Gtg>Atg p.V426M GBM 12 56717611 56717611 + Missense_Mutation SNP A A T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr12:56717611A>T c.2164T>A c.(2164-2166)Tgt>Agt p.C722S GBMLGG 12 56715903 56715903 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56715903T>C c.2759A>G c.(2758-2760)tAt>tGt p.Y920C GBMLGG 12 56716231 56716231 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56716231G>A c.2685C>T c.(2683-2685)gaC>gaT p.D895D GBMLGG 12 56717611 56717611 + Missense_Mutation SNP A A T TCGA-28-5214-01A-01D-1486-08 TCGA-28-5214-10A-01D-1486-08 g.chr12:56717611A>T c.2164T>A c.(2164-2166)Tgt>Agt p.C722S GBMLGG 12 56718252 56718252 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56718252C>T c.1754G>A c.(1753-1755)cGt>cAt p.R585H GBMLGG 12 56720656 56720656 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56720656A>G c.1007T>C c.(1006-1008)tTt>tCt p.F336S GBMLGG 12 56721409 56721409 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56721409G>T c.658C>A c.(658-660)Ctg>Atg p.L220M GBMLGG 12 56721813 56721813 + Frame_Shift_Del DEL T T - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr12:56721813delT c.617delA c.(616-618)aatfs p.N206fs HNSC 12 56712917 56712917 + 5'Flank SNP G G A TCGA-UF-A7JO-01A-11D-A34J-08 TCGA-UF-A7JO-10A-01D-A34M-08 g.chr12:56712917G>A HNSC 12 56712923 56712923 + 5'Flank SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 g.chr12:56712923T>C HNSC 12 56713674 56713674 + Missense_Mutation SNP C C T TCGA-CV-A6JY-01A-11D-A31L-08 TCGA-CV-A6JY-10A-01D-A31J-08 g.chr12:56713674C>T c.2932G>A c.(2932-2934)Gat>Aat p.D978N HNSC 12 56716227 56716227 + Missense_Mutation SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr12:56716227G>A c.2689C>T c.(2689-2691)Ctt>Ttt p.L897F HNSC 12 56716461 56716461 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:56716461G>A c.2587C>T c.(2587-2589)Cgc>Tgc p.R863C HNSC 12 56716463 56716463 + Missense_Mutation SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr12:56716463G>A c.2585C>T c.(2584-2586)tCa>tTa p.S862L HNSC 12 56716916 56716917 + Frame_Shift_Del DEL GA GA - TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr12:56716916_56716917delGA c.2434_2435delTC c.(2434-2436)tccfs p.S812fs HNSC 12 56716930 56716930 + Silent SNP G G A TCGA-HD-A4C1-01A-11D-A24D-08 TCGA-HD-A4C1-10A-02D-A24F-08 g.chr12:56716930G>A c.2421C>T c.(2419-2421)gtC>gtT p.V807V HNSC 12 56717351 56717351 + Frame_Shift_Del DEL T T - TCGA-CV-7247-01A-11D-2012-08 TCGA-CV-7247-10A-01D-2013-08 g.chr12:56717351delT c.2216delA c.(2215-2217)gatfs p.D739fs HNSC 12 56717884 56717884 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr12:56717884C>T c.2014G>A c.(2014-2016)Gag>Aag p.E672K HNSC 12 56718209 56718209 + Silent SNP G G A TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr12:56718209G>A c.1797C>T c.(1795-1797)gaC>gaT p.D599D HNSC 12 56720656 56720656 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 g.chr12:56720656A>T c.1007T>A c.(1006-1008)tTt>tAt p.F336Y HNSC 12 56721345 56721345 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:56721345T>C c.722A>G c.(721-723)gAc>gGc p.D241G HNSC 12 56721836 56721836 + Silent SNP T T A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr12:56721836T>A c.594A>T c.(592-594)ggA>ggT p.G198G HNSC 12 56722344 56722344 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:56722344T>C c.364A>G c.(364-366)Atc>Gtc p.I122V HNSC 12 56726847 56726847 + Missense_Mutation SNP G G A TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr12:56726847G>A c.32C>T c.(31-33)gCa>gTa p.A11V KIPAN 12 56718077 56718077 + Splice_Site SNP C C T TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr12:56718077C>T c.e12+1 KIPAN 12 56720186 56720186 + Missense_Mutation SNP G G C TCGA-CJ-5680-01A-11D-1534-10 TCGA-CJ-5680-11A-01D-1535-10 g.chr12:56720186G>C c.1270C>G c.(1270-1272)Cca>Gca p.P424A KIPAN 12 56720417 56720417 + Missense_Mutation SNP A A G TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr12:56720417A>G c.1246T>C c.(1246-1248)Tct>Cct p.S416P KIPAN 12 56720418 56720418 + Silent SNP G G A TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr12:56720418G>A c.1245C>T c.(1243-1245)aaC>aaT p.N415N KIPAN 12 56720445 56720445 + Silent SNP T T C TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chr12:56720445T>C c.1218A>G c.(1216-1218)acA>acG p.T406T KIPAN 12 56720460 56720460 + Silent SNP T T C TCGA-BQ-7050-01A-11D-1961-08 TCGA-BQ-7050-11A-01D-1961-08 g.chr12:56720460T>C c.1203A>G c.(1201-1203)ccA>ccG p.P401P KIPAN 12 56722345 56722360 + Frame_Shift_Del DEL CTGCCGAATATCATCA CTGCCGAATATCATCA - TCGA-5P-A9JW-01A-11D-A42J-10 TCGA-5P-A9JW-10A-01D-A42M-10 g.chr12:56722345_56722360delCTGCCGAATATCATCA c.348_363delTGATGATATTCGGCAG c.(346-363)agtgatgatattcggcagfs p.SDDIRQ116fs KIRC 12 56720186 56720186 + Missense_Mutation SNP G G C TCGA-CJ-5680-01A-11D-1534-10 TCGA-CJ-5680-11A-01D-1535-10 g.chr12:56720186G>C c.1270C>G c.(1270-1272)Cca>Gca p.P424A KIRC 12 56720445 56720445 + Silent SNP T T C TCGA-B0-4817-01A-01D-1361-10 TCGA-B0-4817-11A-01D-1361-10 g.chr12:56720445T>C c.1218A>G c.(1216-1218)acA>acG p.T406T KIRP 12 56718077 56718077 + Splice_Site SNP C C T TCGA-2Z-A9JP-01A-11D-A42J-10 TCGA-2Z-A9JP-10A-01D-A42M-10 g.chr12:56718077C>T c.e12+1 KIRP 12 56720417 56720417 + Missense_Mutation SNP A A G TCGA-UZ-A9Q0-01A-12D-A42J-10 TCGA-UZ-A9Q0-10A-01D-A42M-10 g.chr12:56720417A>G c.1246T>C c.(1246-1248)Tct>Cct p.S416P KIRP 12 56720418 56720418 + Silent SNP G G A TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr12:56720418G>A c.1245C>T c.(1243-1245)aaC>aaT p.N415N KIRP 12 56720460 56720460 + Silent SNP T T C TCGA-BQ-7050-01A-11D-1961-08 TCGA-BQ-7050-11A-01D-1961-08 g.chr12:56720460T>C c.1203A>G c.(1201-1203)ccA>ccG p.P401P KIRP 12 56722345 56722360 + Frame_Shift_Del DEL CTGCCGAATATCATCA CTGCCGAATATCATCA - TCGA-5P-A9JW-01A-11D-A42J-10 TCGA-5P-A9JW-10A-01D-A42M-10 g.chr12:56722345_56722360delCTGCCGAATATCATCA c.348_363delTGATGATATTCGGCAG c.(346-363)agtgatgatattcggcagfs p.SDDIRQ116fs LGG 12 56715903 56715903 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56715903T>C c.2759A>G c.(2758-2760)tAt>tGt p.Y920C LGG 12 56716231 56716231 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56716231G>A c.2685C>T c.(2683-2685)gaC>gaT p.D895D LGG 12 56718252 56718252 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56718252C>T c.1754G>A c.(1753-1755)cGt>cAt p.R585H LGG 12 56720656 56720656 + Missense_Mutation SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56720656A>G c.1007T>C c.(1006-1008)tTt>tCt p.F336S LGG 12 56721409 56721409 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:56721409G>T c.658C>A c.(658-660)Ctg>Atg p.L220M LGG 12 56721813 56721813 + Frame_Shift_Del DEL T T - TCGA-FG-5964-01A-11D-1705-08 TCGA-FG-5964-10A-01D-1705-08 g.chr12:56721813delT c.617delA c.(616-618)aatfs p.N206fs LIHC 12 56713218 56713225 + Frame_Shift_Del DEL GGCATCGA GGCATCGA - TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr12:56713218_56713225delGGCATCGA c.3149_3156delTCGATGCC c.(3148-3156)ctcgatgccfs p.LDA1050fs LIHC 12 56716892 56716892 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:56716892delT c.2459delA c.(2458-2460)aacfs p.N820fs LIHC 12 56720131 56720131 + Missense_Mutation SNP T T A TCGA-DD-AAW2-01A-11D-A40P-10 TCGA-DD-AAW2-10A-01D-A40P-10 g.chr12:56720131T>A c.1325A>T c.(1324-1326)tAt>tTt p.Y442F LIHC 12 56722129 56722129 + Nonsense_Mutation SNP C C A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr12:56722129C>A c.466G>T c.(466-468)Gag>Tag p.E156* LIHC 12 56726754 56726754 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:56726754T>C c.125A>G c.(124-126)gAg>gGg p.E42G LUAD 12 56712094 56712094 + 5'Flank SNP G G A TCGA-49-6761-01A-31D-1945-08 TCGA-49-6761-11A-01D-1945-08 g.chr12:56712094G>A LUAD 12 56712162 56712162 + 5'Flank SNP G G A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr12:56712162G>A LUAD 12 56712181 56712181 + 5'Flank SNP C C G TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr12:56712181C>G LUAD 12 56713245 56713245 + Silent SNP C C G TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr12:56713245C>G c.3129G>C c.(3127-3129)tcG>tcC p.S1043S LUAD 12 56713716 56713716 + Missense_Mutation SNP T T A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr12:56713716T>A c.2890A>T c.(2890-2892)Atg>Ttg p.M964L LUAD 12 56720556 56720556 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr12:56720556G>A c.1107C>T c.(1105-1107)tcC>tcT p.S369S LUAD 12 56721396 56721396 + Missense_Mutation SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr12:56721396C>T c.671G>A c.(670-672)cGt>cAt p.R224H LUAD 12 56726626 56726626 + Nonsense_Mutation SNP C C A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr12:56726626C>A c.253G>T c.(253-255)Gag>Tag p.E85* LUSC 12 56711394 56711394 + 5'Flank SNP C C A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr12:56711394C>A LUSC 12 56713650 56713650 + Missense_Mutation SNP C C T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr12:56713650C>T c.2956G>A c.(2956-2958)Gag>Aag p.E986K LUSC 12 56716415 56716415 + Missense_Mutation SNP T T A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr12:56716415T>A c.2633A>T c.(2632-2634)tAc>tTc p.Y878F LUSC 12 56717636 56717636 + Silent SNP C C T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr12:56717636C>T c.2139G>A c.(2137-2139)caG>caA p.Q713Q LUSC 12 56718474 56718474 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:56718474G>A c.1619C>T c.(1618-1620)cCt>cTt p.P540L LUSC 12 56720625 56720625 + Silent SNP G G T TCGA-21-5782-01A-01D-1632-08 TCGA-21-5782-10A-01D-1632-08 g.chr12:56720625G>T c.1038C>A c.(1036-1038)gcC>gcA p.A346A LUSC 12 56721407 56721407 + Silent SNP C C T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr12:56721407C>T c.660G>A c.(658-660)ctG>ctA p.L220L LUSC 12 56722284 56722284 + Missense_Mutation SNP G G A TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr12:56722284G>A c.424C>T c.(424-426)Cgt>Tgt p.R142C OV 12 56713505 56713505 + Missense_Mutation SNP T T A TCGA-42-2587-01A-01D-1526-09 TCGA-42-2587-10A-01D-1526-09 g.chr12:56713505T>A c.3002A>T c.(3001-3003)aAa>aTa p.K1001I OV 12 56716857 56716857 + Missense_Mutation SNP C C G TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr12:56716857C>G c.2494G>C c.(2494-2496)Gat>Cat p.D832H OV 12 56717139 56717139 + Missense_Mutation SNP G G T TCGA-23-2079-01A-01W-0722-08 TCGA-23-2079-10A-01W-0722-08 g.chr12:56717139G>T c.2313C>A c.(2311-2313)caC>caA p.H771Q OV 12 56718841 56718841 + Silent SNP A A C TCGA-25-1632-01A-01W-0615-10 TCGA-25-1632-10A-01W-0615-10 g.chr12:56718841A>C c.1551T>G c.(1549-1551)gcT>gcG p.A517A PAAD 12 56712063 56712063 + 5'Flank SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:56712063C>A PAAD 12 56722398 56722398 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:56722398C>A c.310G>T c.(310-312)Gcc>Tcc p.A104S PRAD 12 56711419 56711419 + 5'Flank SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 g.chr12:56711419C>T PRAD 12 56713245 56713245 + Silent SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr12:56713245C>T c.3129G>A c.(3127-3129)tcG>tcA p.S1043S PRAD 12 56716848 56716848 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:56716848G>A c.2503C>T c.(2503-2505)Cag>Tag p.Q835* PRAD 12 56720445 56720445 + Silent SNP T T C TCGA-J9-A8CP-01A-11D-A34U-08 TCGA-J9-A8CP-10A-01D-A34X-08 g.chr12:56720445T>C c.1218A>G c.(1216-1218)acA>acG p.T406T PRAD 12 56721408 56721408 + Missense_Mutation SNP A A G TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:56721408A>G c.659T>C c.(658-660)cTg>cCg p.L220P PRAD 12 56722258 56722258 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 g.chr12:56722258G>A c.450C>T c.(448-450)taC>taT p.Y150Y READ 12 56718842 56718842 + Missense_Mutation SNP G G A TCGA-AH-6644-01A-21D-1826-10 TCGA-AH-6644-10A-01D-1826-10 g.chr12:56718842G>A c.1550C>T c.(1549-1551)gCt>gTt p.A517V SARC 12 56718437 56718437 + Silent SNP C C T TCGA-DX-A2IZ-01A-11D-A21Q-09 TCGA-DX-A2IZ-10A-01D-A21Q-09 g.chr12:56718437C>T c.1656G>A c.(1654-1656)aaG>aaA p.K552K SARC 12 56726749 56726749 + Missense_Mutation SNP C C T TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 g.chr12:56726749C>T c.130G>A c.(130-132)Gtg>Atg p.V44M SKCM 12 56711414 56711414 + 5'Flank SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr12:56711414G>T SKCM 12 56712110 56712110 + 5'Flank SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:56712110G>A SKCM 12 56712947 56712947 + 5'Flank SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:56712947G>A SKCM 12 56715907 56715907 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:56715907G>A c.2755C>T c.(2755-2757)Ctt>Ttt p.L919F SKCM 12 56716906 56716906 + Missense_Mutation SNP C C T TCGA-ER-A198-06A-11D-A196-08 TCGA-ER-A198-10A-01D-A198-08 g.chr12:56716906C>T c.2445G>A c.(2443-2445)atG>atA p.M815I SKCM 12 56717878 56717878 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr12:56717878C>T c.2020G>A c.(2020-2022)Gtg>Atg p.V674M SKCM 12 56718094 56718094 + Nonsense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:56718094G>A c.1912C>T c.(1912-1914)Cga>Tga p.R638* SKCM 12 56719165 56719165 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:56719165C>T c.1433G>A c.(1432-1434)cGa>cAa p.R478Q SKCM 12 56720705 56720705 + Missense_Mutation SNP G G A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr12:56720705G>A c.958C>T c.(958-960)Cca>Tca p.P320S SKCM 12 56721154 56721154 + Nonsense_Mutation SNP G G A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 g.chr12:56721154G>A c.913C>T c.(913-915)Cag>Tag p.Q305* SKCM 12 56721416 56721416 + Splice_Site SNP C C T TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr12:56721416C>T c.e6-1 SKCM 12 56722320 56722320 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:56722320G>A c.388C>T c.(388-390)Ctt>Ttt p.L130F SKCM 12 56722378 56722378 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:56722378G>A c.330C>T c.(328-330)tcC>tcT p.S110S SKCM 12 56726705 56726705 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr12:56726705C>T c.174G>A c.(172-174)atG>atA p.M58I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 56708659 56708659 single base substitution T C downstream_gene_variant BLCA-CN 12 56717885 56717885 single base substitution A C downstream_gene_variant BLCA-CN 12 56717885 56717885 single base substitution A C exon_variant BLCA-CN 12 56717885 56717885 single base substitution A C missense_variant S670R 2010T>G BLCA-CN 12 56717885 56717885 single base substitution A C missense_variant S671R 2013T>G BLCA-CN 12 56717885 56717885 single base substitution A C upstream_gene_variant BLCA-CN 12 56719214 56719214 single base substitution C T downstream_gene_variant BLCA-CN 12 56719214 56719214 single base substitution C T exon_variant BLCA-CN 12 56719214 56719214 single base substitution C T missense_variant D462N 1384G>A BLCA-CN 12 56719214 56719214 single base substitution C T upstream_gene_variant BLCA-CN 12 56720551 56720551 single base substitution T A downstream_gene_variant BLCA-CN 12 56720551 56720551 single base substitution T A exon_variant BLCA-CN 12 56720551 56720551 single base substitution T A missense_variant E371V 1112A>T BLCA-CN 12 56720551 56720551 single base substitution T A upstream_gene_variant BLCA-CN 12 56720699 56720699 single base substitution C T downstream_gene_variant BLCA-CN 12 56720699 56720699 single base substitution C T exon_variant BLCA-CN 12 56720699 56720699 single base substitution C T missense_variant D322N 964G>A BLCA-CN 12 56720699 56720699 single base substitution C T upstream_gene_variant BLCA-CN 12 56721340 56721340 single base substitution C T downstream_gene_variant BLCA-CN 12 56721340 56721340 single base substitution C T exon_variant BLCA-CN 12 56721340 56721340 single base substitution C T missense_variant D104N 310G>A BLCA-CN 12 56721340 56721340 single base substitution C T missense_variant D243N 727G>A BLCA-CN 12 56721340 56721340 single base substitution C T upstream_gene_variant BLCA-CN 12 56721407 56721407 single base substitution C T downstream_gene_variant BLCA-CN 12 56721407 56721407 single base substitution C T exon_variant BLCA-CN 12 56721407 56721407 single base substitution C T synonymous_variant L220L 660G>A BLCA-CN 12 56721407 56721407 single base substitution C T synonymous_variant L81L 243G>A BLCA-CN 12 56721407 56721407 single base substitution C T upstream_gene_variant BLCA-US 12 56713447 56713447 single base substitution C A downstream_gene_variant BLCA-US 12 56713447 56713447 single base substitution C A exon_variant BLCA-US 12 56713447 56713447 single base substitution C A missense_variant E1016D 3048G>T BLCA-US 12 56713447 56713447 single base substitution C A missense_variant E1019D 3057G>T BLCA-US 12 56713447 56713447 single base substitution C A missense_variant E1020D 3060G>T BLCA-US 12 56713447 56713447 single base substitution C A upstream_gene_variant BLCA-US 12 56715866 56715866 single base substitution C T downstream_gene_variant BLCA-US 12 56715866 56715866 single base substitution C T exon_variant BLCA-US 12 56715866 56715866 single base substitution C T synonymous_variant L928L 2784G>A BLCA-US 12 56715866 56715866 single base substitution C T synonymous_variant L931L 2793G>A BLCA-US 12 56715866 56715866 single base substitution C T synonymous_variant L932L 2796G>A BLCA-US 12 56715866 56715866 single base substitution C T upstream_gene_variant BLCA-US 12 56716212 56716212 single base substitution C T downstream_gene_variant BLCA-US 12 56716212 56716212 single base substitution C T exon_variant BLCA-US 12 56716212 56716212 single base substitution C T missense_variant D898N 2692G>A BLCA-US 12 56716212 56716212 single base substitution C T missense_variant D901N 2701G>A BLCA-US 12 56716212 56716212 single base substitution C T missense_variant D902N 2704G>A BLCA-US 12 56716212 56716212 single base substitution C T upstream_gene_variant BLCA-US 12 56716974 56716974 single base substitution C T downstream_gene_variant BLCA-US 12 56716974 56716974 single base substitution C T exon_variant BLCA-US 12 56716974 56716974 single base substitution C T missense_variant E789K 2365G>A BLCA-US 12 56716974 56716974 single base substitution C T missense_variant E792K 2374G>A BLCA-US 12 56716974 56716974 single base substitution C T missense_variant E793K 2377G>A BLCA-US 12 56716974 56716974 single base substitution C T upstream_gene_variant BLCA-US 12 56717846 56717846 single base substitution G C downstream_gene_variant BLCA-US 12 56717846 56717846 single base substitution G C exon_variant BLCA-US 12 56717846 56717846 single base substitution G C synonymous_variant L683L 2049C>G BLCA-US 12 56717846 56717846 single base substitution G C synonymous_variant L684L 2052C>G BLCA-US 12 56717846 56717846 single base substitution G C upstream_gene_variant BLCA-US 12 56718262 56718262 single base substitution G A downstream_gene_variant BLCA-US 12 56718262 56718262 single base substitution G A exon_variant BLCA-US 12 56718262 56718262 single base substitution G A missense_variant R582W 1744C>T BLCA-US 12 56718262 56718262 single base substitution G A upstream_gene_variant BLCA-US 12 56720165 56720165 single base substitution G C downstream_gene_variant BLCA-US 12 56720165 56720165 single base substitution G C exon_variant BLCA-US 12 56720165 56720165 single base substitution G C missense_variant L431V 1291C>G BLCA-US 12 56720165 56720165 single base substitution G C upstream_gene_variant BLCA-US 12 56720504 56720504 single base substitution C T downstream_gene_variant BLCA-US 12 56720504 56720504 single base substitution C T exon_variant BLCA-US 12 56720504 56720504 single base substitution C T missense_variant D387N 1159G>A BLCA-US 12 56720504 56720504 single base substitution C T upstream_gene_variant BLCA-US 12 56720612 56720612 single base substitution C T downstream_gene_variant BLCA-US 12 56720612 56720612 single base substitution C T exon_variant BLCA-US 12 56720612 56720612 single base substitution C T missense_variant E351K 1051G>A BLCA-US 12 56720612 56720612 single base substitution C T upstream_gene_variant BLCA-US 12 56720613 56720613 single base substitution A G downstream_gene_variant BLCA-US 12 56720613 56720613 single base substitution A G exon_variant BLCA-US 12 56720613 56720613 single base substitution A G synonymous_variant S350S 1050T>C BLCA-US 12 56720613 56720613 single base substitution A G upstream_gene_variant BLCA-US 12 56720730 56720730 deletion of <=200bp G - downstream_gene_variant BLCA-US 12 56720730 56720730 deletion of <=200bp G - exon_variant BLCA-US 12 56720730 56720730 deletion of <=200bp G - frameshift_variant F311 BLCA-US 12 56720730 56720730 deletion of <=200bp G - upstream_gene_variant BLCA-US 12 56721825 56721825 single base substitution A T downstream_gene_variant BLCA-US 12 56721825 56721825 single base substitution A T exon_variant BLCA-US 12 56721825 56721825 single base substitution A T missense_variant M202K 605T>A BLCA-US 12 56721825 56721825 single base substitution A T missense_variant M63K 188T>A BLCA-US 12 56721825 56721825 single base substitution A T upstream_gene_variant BLCA-US 12 56722102 56722102 single base substitution C T downstream_gene_variant BLCA-US 12 56722102 56722102 single base substitution C T exon_variant BLCA-US 12 56722102 56722102 single base substitution C T missense_variant D165N 493G>A BLCA-US 12 56722102 56722102 single base substitution C T missense_variant D26N 76G>A BLCA-US 12 56722102 56722102 single base substitution C T upstream_gene_variant BLCA-US 12 56722297 56722297 single base substitution G A 5_prime_UTR_variant BLCA-US 12 56722297 56722297 single base substitution G A downstream_gene_variant BLCA-US 12 56722297 56722297 single base substitution G A exon_variant BLCA-US 12 56722297 56722297 single base substitution G A synonymous_variant L137L 411C>T BLCA-US 12 56722297 56722297 single base substitution G A upstream_gene_variant BRCA-EU 12 56707655 56707655 single base substitution G A downstream_gene_variant BRCA-EU 12 56709974 56709974 single base substitution A T downstream_gene_variant BRCA-EU 12 56710912 56710912 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 56710912 56710912 single base substitution A G downstream_gene_variant BRCA-EU 12 56710912 56710912 single base substitution A G exon_variant BRCA-EU 12 56711026 56711026 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 56711026 56711026 single base substitution C G downstream_gene_variant BRCA-EU 12 56711026 56711026 single base substitution C G exon_variant BRCA-EU 12 56714772 56714772 single base substitution C T downstream_gene_variant BRCA-EU 12 56714772 56714772 single base substitution C T intron_variant BRCA-EU 12 56714772 56714772 single base substitution C T upstream_gene_variant BRCA-EU 12 56716487 56716487 single base substitution G A downstream_gene_variant BRCA-EU 12 56716487 56716487 single base substitution G A exon_variant BRCA-EU 12 56716487 56716487 single base substitution G A missense_variant A850V 2549C>T BRCA-EU 12 56716487 56716487 single base substitution G A missense_variant A853V 2558C>T BRCA-EU 12 56716487 56716487 single base substitution G A missense_variant A854V 2561C>T BRCA-EU 12 56716487 56716487 single base substitution G A upstream_gene_variant BRCA-EU 12 56716558 56716558 single base substitution C T downstream_gene_variant BRCA-EU 12 56716558 56716558 single base substitution C T exon_variant BRCA-EU 12 56716558 56716558 single base substitution C T intron_variant BRCA-EU 12 56716558 56716558 single base substitution C T upstream_gene_variant BRCA-EU 12 56716674 56716674 single base substitution C G downstream_gene_variant BRCA-EU 12 56716674 56716674 single base substitution C G exon_variant BRCA-EU 12 56716674 56716674 single base substitution C G intron_variant BRCA-EU 12 56716674 56716674 single base substitution C G upstream_gene_variant BRCA-EU 12 56719020 56719020 single base substitution T C downstream_gene_variant BRCA-EU 12 56719020 56719020 single base substitution T C exon_variant BRCA-EU 12 56719020 56719020 single base substitution T C intron_variant BRCA-EU 12 56719020 56719020 single base substitution T C upstream_gene_variant BRCA-EU 12 56720526 56720526 single base substitution G C downstream_gene_variant BRCA-EU 12 56720526 56720526 single base substitution G C exon_variant BRCA-EU 12 56720526 56720526 single base substitution G C synonymous_variant L379L 1137C>G BRCA-EU 12 56720526 56720526 single base substitution G C upstream_gene_variant BRCA-EU 12 56721718 56721718 single base substitution C T downstream_gene_variant BRCA-EU 12 56721718 56721718 single base substitution C T exon_variant BRCA-EU 12 56721718 56721718 single base substitution C T intron_variant BRCA-EU 12 56721718 56721718 single base substitution C T upstream_gene_variant BRCA-EU 12 56721905 56721905 single base substitution A G downstream_gene_variant BRCA-EU 12 56721905 56721905 single base substitution A G intron_variant BRCA-EU 12 56721905 56721905 single base substitution A G upstream_gene_variant BRCA-EU 12 56723139 56723139 single base substitution G T downstream_gene_variant BRCA-EU 12 56723139 56723139 single base substitution G T intron_variant BRCA-EU 12 56723139 56723139 single base substitution G T upstream_gene_variant BRCA-EU 12 56723494 56723494 single base substitution A G downstream_gene_variant BRCA-EU 12 56723494 56723494 single base substitution A G intron_variant BRCA-EU 12 56723494 56723494 single base substitution A G upstream_gene_variant BRCA-EU 12 56724343 56724343 single base substitution C A downstream_gene_variant BRCA-EU 12 56724343 56724343 single base substitution C A intron_variant BRCA-EU 12 56724343 56724343 single base substitution C A upstream_gene_variant BRCA-EU 12 56724667 56724667 single base substitution C G downstream_gene_variant BRCA-EU 12 56724667 56724667 single base substitution C G intron_variant BRCA-EU 12 56724667 56724667 single base substitution C G upstream_gene_variant BRCA-EU 12 56725030 56725030 single base substitution C A downstream_gene_variant BRCA-EU 12 56725030 56725030 single base substitution C A intron_variant BRCA-EU 12 56725030 56725030 single base substitution C A upstream_gene_variant BRCA-EU 12 56725685 56725685 single base substitution G C downstream_gene_variant BRCA-EU 12 56725685 56725685 single base substitution G C intron_variant BRCA-EU 12 56727449 56727449 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 12 56727449 56727449 single base substitution G C intron_variant BRCA-EU 12 56727449 56727449 single base substitution G C upstream_gene_variant BRCA-EU 12 56728010 56728010 single base substitution C G upstream_gene_variant BRCA-EU 12 56729198 56729198 single base substitution G C upstream_gene_variant BRCA-EU 12 56729409 56729409 single base substitution G C upstream_gene_variant BRCA-EU 12 56731687 56731687 single base substitution G C upstream_gene_variant BRCA-FR 12 56707142 56707142 single base substitution T C downstream_gene_variant BRCA-FR 12 56716487 56716487 single base substitution G A downstream_gene_variant BRCA-FR 12 56716487 56716487 single base substitution G A exon_variant BRCA-FR 12 56716487 56716487 single base substitution G A missense_variant A850V 2549C>T BRCA-FR 12 56716487 56716487 single base substitution G A missense_variant A853V 2558C>T BRCA-FR 12 56716487 56716487 single base substitution G A missense_variant A854V 2561C>T BRCA-FR 12 56716487 56716487 single base substitution G A upstream_gene_variant BRCA-FR 12 56727449 56727449 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 12 56727449 56727449 single base substitution G C intron_variant BRCA-FR 12 56727449 56727449 single base substitution G C upstream_gene_variant BRCA-KR 12 56718468 56718468 single base substitution C T downstream_gene_variant BRCA-KR 12 56718468 56718468 single base substitution C T exon_variant BRCA-KR 12 56718468 56718468 single base substitution C T missense_variant R542H 1625G>A BRCA-KR 12 56718468 56718468 single base substitution C T upstream_gene_variant BRCA-UK 12 56717297 56717297 single base substitution C G downstream_gene_variant BRCA-UK 12 56717297 56717297 single base substitution C G exon_variant BRCA-UK 12 56717297 56717297 single base substitution C G missense_variant R753T 2258G>C BRCA-UK 12 56717297 56717297 single base substitution C G missense_variant R756T 2267G>C BRCA-UK 12 56717297 56717297 single base substitution C G missense_variant R757T 2270G>C BRCA-UK 12 56717297 56717297 single base substitution C G upstream_gene_variant BRCA-UK 12 56719020 56719020 single base substitution T C downstream_gene_variant BRCA-UK 12 56719020 56719020 single base substitution T C exon_variant BRCA-UK 12 56719020 56719020 single base substitution T C intron_variant BRCA-UK 12 56719020 56719020 single base substitution T C upstream_gene_variant BRCA-US 12 56705098 56705098 single base substitution C T downstream_gene_variant BRCA-US 12 56708704 56708704 single base substitution C A downstream_gene_variant BRCA-US 12 56708926 56708926 single base substitution G C downstream_gene_variant BRCA-US 12 56713158 56713158 single base substitution G A downstream_gene_variant BRCA-US 12 56713158 56713158 single base substitution G A exon_variant BRCA-US 12 56713158 56713158 single base substitution G A synonymous_variant L1068L 3204C>T BRCA-US 12 56713158 56713158 single base substitution G A synonymous_variant L1071L 3213C>T BRCA-US 12 56713158 56713158 single base substitution G A synonymous_variant L1072L 3216C>T BRCA-US 12 56713158 56713158 single base substitution G A upstream_gene_variant BRCA-US 12 56713711 56713711 single base substitution C T downstream_gene_variant BRCA-US 12 56713711 56713711 single base substitution C T exon_variant BRCA-US 12 56713711 56713711 single base substitution C T synonymous_variant L961L 2883G>A BRCA-US 12 56713711 56713711 single base substitution C T synonymous_variant L964L 2892G>A BRCA-US 12 56713711 56713711 single base substitution C T synonymous_variant L965L 2895G>A BRCA-US 12 56713711 56713711 single base substitution C T upstream_gene_variant BRCA-US 12 56718085 56718085 single base substitution C A downstream_gene_variant BRCA-US 12 56718085 56718085 single base substitution C A exon_variant BRCA-US 12 56718085 56718085 single base substitution C A stop_gained G641* 1921G>T BRCA-US 12 56718085 56718085 single base substitution C A upstream_gene_variant BRCA-US 12 56720159 56720159 single base substitution T G downstream_gene_variant BRCA-US 12 56720159 56720159 single base substitution T G exon_variant BRCA-US 12 56720159 56720159 single base substitution T G missense_variant T433P 1297A>C BRCA-US 12 56720159 56720159 single base substitution T G upstream_gene_variant BRCA-US 12 56720525 56720525 single base substitution C T downstream_gene_variant BRCA-US 12 56720525 56720525 single base substitution C T exon_variant BRCA-US 12 56720525 56720525 single base substitution C T missense_variant V380M 1138G>A BRCA-US 12 56720525 56720525 single base substitution C T upstream_gene_variant BRCA-US 12 56720592 56720592 single base substitution C A downstream_gene_variant BRCA-US 12 56720592 56720592 single base substitution C A exon_variant BRCA-US 12 56720592 56720592 single base substitution C A missense_variant W357C 1071G>T BRCA-US 12 56720592 56720592 single base substitution C A upstream_gene_variant BRCA-US 12 56721335 56721335 single base substitution C A downstream_gene_variant BRCA-US 12 56721335 56721335 single base substitution C A exon_variant BRCA-US 12 56721335 56721335 single base substitution C A synonymous_variant V105V 315G>T BRCA-US 12 56721335 56721335 single base substitution C A synonymous_variant V244V 732G>T BRCA-US 12 56721335 56721335 single base substitution C A upstream_gene_variant BRCA-US 12 56721845 56721845 single base substitution C G downstream_gene_variant BRCA-US 12 56721845 56721845 single base substitution C G exon_variant BRCA-US 12 56721845 56721845 single base substitution C G missense_variant E195D 585G>C BRCA-US 12 56721845 56721845 single base substitution C G missense_variant E56D 168G>C BRCA-US 12 56721845 56721845 single base substitution C G upstream_gene_variant BTCA-JP 12 56713224 56713224 single base substitution G A downstream_gene_variant BTCA-JP 12 56713224 56713224 single base substitution G A exon_variant BTCA-JP 12 56713224 56713224 single base substitution G A synonymous_variant L1046L 3138C>T BTCA-JP 12 56713224 56713224 single base substitution G A synonymous_variant L1049L 3147C>T BTCA-JP 12 56713224 56713224 single base substitution G A synonymous_variant L1050L 3150C>T BTCA-JP 12 56713224 56713224 single base substitution G A upstream_gene_variant BTCA-JP 12 56713466 56713466 single base substitution C T downstream_gene_variant BTCA-JP 12 56713466 56713466 single base substitution C T exon_variant BTCA-JP 12 56713466 56713466 single base substitution C T missense_variant R1010Q 3029G>A BTCA-JP 12 56713466 56713466 single base substitution C T missense_variant R1013Q 3038G>A BTCA-JP 12 56713466 56713466 single base substitution C T missense_variant R1014Q 3041G>A BTCA-JP 12 56713466 56713466 single base substitution C T upstream_gene_variant BTCA-JP 12 56716048 56716048 insertion of <=200bp - T downstream_gene_variant BTCA-JP 12 56716048 56716048 insertion of <=200bp - T exon_variant BTCA-JP 12 56716048 56716048 insertion of <=200bp - T intron_variant BTCA-JP 12 56716048 56716048 insertion of <=200bp - T upstream_gene_variant BTCA-JP 12 56716087 56716087 single base substitution A G downstream_gene_variant BTCA-JP 12 56716087 56716087 single base substitution A G exon_variant BTCA-JP 12 56716087 56716087 single base substitution A G intron_variant BTCA-JP 12 56716087 56716087 single base substitution A G upstream_gene_variant BTCA-JP 12 56717730 56717730 single base substitution C T downstream_gene_variant BTCA-JP 12 56717730 56717730 single base substitution C T exon_variant BTCA-JP 12 56717730 56717730 single base substitution C T intron_variant BTCA-JP 12 56717730 56717730 single base substitution C T upstream_gene_variant BTCA-JP 12 56720064 56720064 single base substitution G A downstream_gene_variant BTCA-JP 12 56720064 56720064 single base substitution G A intron_variant BTCA-JP 12 56720064 56720064 single base substitution G A upstream_gene_variant BTCA-JP 12 56720700 56720700 single base substitution G A downstream_gene_variant BTCA-JP 12 56720700 56720700 single base substitution G A exon_variant BTCA-JP 12 56720700 56720700 single base substitution G A synonymous_variant A321A 963C>T BTCA-JP 12 56720700 56720700 single base substitution G A upstream_gene_variant CESC-US 12 56718400 56718400 single base substitution G A downstream_gene_variant CESC-US 12 56718400 56718400 single base substitution G A exon_variant CESC-US 12 56718400 56718400 single base substitution G A missense_variant H565Y 1693C>T CESC-US 12 56718400 56718400 single base substitution G A upstream_gene_variant CESC-US 12 56720435 56720435 single base substitution C A downstream_gene_variant CESC-US 12 56720435 56720435 single base substitution C A exon_variant CESC-US 12 56720435 56720435 single base substitution C A missense_variant D410Y 1228G>T CESC-US 12 56720435 56720435 single base substitution C A upstream_gene_variant CESC-US 12 56722356 56722356 single base substitution C T 5_prime_UTR_variant CESC-US 12 56722356 56722356 single base substitution C T downstream_gene_variant CESC-US 12 56722356 56722356 single base substitution C T exon_variant CESC-US 12 56722356 56722356 single base substitution C T missense_variant D118N 352G>A CESC-US 12 56722356 56722356 single base substitution C T upstream_gene_variant CESC-US 12 56726779 56726779 single base substitution G A exon_variant CESC-US 12 56726779 56726779 single base substitution G A intron_variant CESC-US 12 56726779 56726779 single base substitution G A synonymous_variant L34L 100C>T CESC-US 12 56726779 56726779 single base substitution G A upstream_gene_variant CLLE-ES 12 56707955 56707955 single base substitution G A downstream_gene_variant CLLE-ES 12 56719924 56719924 single base substitution C T downstream_gene_variant CLLE-ES 12 56719924 56719924 single base substitution C T intron_variant CLLE-ES 12 56719924 56719924 single base substitution C T upstream_gene_variant CLLE-ES 12 56729937 56729937 single base substitution A T upstream_gene_variant COAD-US 12 56708916 56708916 single base substitution C T downstream_gene_variant COAD-US 12 56712169 56712169 single base substitution T C downstream_gene_variant COAD-US 12 56712169 56712169 single base substitution T C exon_variant COAD-US 12 56712169 56712169 single base substitution T C intron_variant COAD-US 12 56712169 56712169 single base substitution T C synonymous_variant T1138T 3414A>G COAD-US 12 56712169 56712169 single base substitution T C synonymous_variant T1141T 3423A>G COAD-US 12 56712169 56712169 single base substitution T C synonymous_variant T1142T 3426A>G COAD-US 12 56717590 56717590 single base substitution C T downstream_gene_variant COAD-US 12 56717590 56717590 single base substitution C T splice_donor_variant COAD-US 12 56717590 56717590 single base substitution C T upstream_gene_variant COAD-US 12 56718899 56718899 single base substitution T C downstream_gene_variant COAD-US 12 56718899 56718899 single base substitution T C exon_variant COAD-US 12 56718899 56718899 single base substitution T C missense_variant Y498C 1493A>G COAD-US 12 56718899 56718899 single base substitution T C upstream_gene_variant COCA-CN 12 56706019 56706019 single base substitution T C downstream_gene_variant COCA-CN 12 56708579 56708579 single base substitution G A downstream_gene_variant COCA-CN 12 56713246 56713246 single base substitution G A downstream_gene_variant COCA-CN 12 56713246 56713246 single base substitution G A exon_variant COCA-CN 12 56713246 56713246 single base substitution G A missense_variant S1039L 3116C>T COCA-CN 12 56713246 56713246 single base substitution G A missense_variant S1042L 3125C>T COCA-CN 12 56713246 56713246 single base substitution G A missense_variant S1043L 3128C>T COCA-CN 12 56713246 56713246 single base substitution G A upstream_gene_variant COCA-CN 12 56717893 56717893 single base substitution A G downstream_gene_variant COCA-CN 12 56717893 56717893 single base substitution A G exon_variant COCA-CN 12 56717893 56717893 single base substitution A G missense_variant C668R 2002T>C COCA-CN 12 56717893 56717893 single base substitution A G missense_variant C669R 2005T>C COCA-CN 12 56717893 56717893 single base substitution A G upstream_gene_variant COCA-CN 12 56717897 56717897 single base substitution G A downstream_gene_variant COCA-CN 12 56717897 56717897 single base substitution G A exon_variant COCA-CN 12 56717897 56717897 single base substitution G A synonymous_variant C666C 1998C>T COCA-CN 12 56717897 56717897 single base substitution G A synonymous_variant C667C 2001C>T COCA-CN 12 56717897 56717897 single base substitution G A upstream_gene_variant COCA-CN 12 56718121 56718121 single base substitution G A downstream_gene_variant COCA-CN 12 56718121 56718121 single base substitution G A exon_variant COCA-CN 12 56718121 56718121 single base substitution G A stop_gained Q629* 1885C>T COCA-CN 12 56718121 56718121 single base substitution G A upstream_gene_variant COCA-CN 12 56719169 56719169 single base substitution C A downstream_gene_variant COCA-CN 12 56719169 56719169 single base substitution C A exon_variant COCA-CN 12 56719169 56719169 single base substitution C A stop_gained G477* 1429G>T COCA-CN 12 56719169 56719169 single base substitution C A upstream_gene_variant COCA-CN 12 56722408 56722408 single base substitution A G 5_prime_UTR_variant COCA-CN 12 56722408 56722408 single base substitution A G downstream_gene_variant COCA-CN 12 56722408 56722408 single base substitution A G exon_variant COCA-CN 12 56722408 56722408 single base substitution A G synonymous_variant F100F 300T>C COCA-CN 12 56722408 56722408 single base substitution A G upstream_gene_variant COCA-CN 12 56726626 56726626 single base substitution C T exon_variant COCA-CN 12 56726626 56726626 single base substitution C T intron_variant COCA-CN 12 56726626 56726626 single base substitution C T missense_variant E85K 253G>A ESAD-UK 12 56706264 56706264 single base substitution C T downstream_gene_variant ESAD-UK 12 56706845 56706845 single base substitution C T downstream_gene_variant ESAD-UK 12 56710338 56710338 single base substitution T C 3_prime_UTR_variant ESAD-UK 12 56710338 56710338 single base substitution T C downstream_gene_variant ESAD-UK 12 56711959 56711962 deletion of <=200bp ACAA - downstream_gene_variant ESAD-UK 12 56711959 56711962 deletion of <=200bp ACAA - intron_variant ESAD-UK 12 56713911 56713911 single base substitution C G downstream_gene_variant ESAD-UK 12 56713911 56713911 single base substitution C G intron_variant ESAD-UK 12 56713911 56713911 single base substitution C G upstream_gene_variant ESAD-UK 12 56715591 56715591 single base substitution C T downstream_gene_variant ESAD-UK 12 56715591 56715591 single base substitution C T intron_variant ESAD-UK 12 56715591 56715591 single base substitution C T upstream_gene_variant ESAD-UK 12 56715700 56715700 single base substitution G A downstream_gene_variant ESAD-UK 12 56715700 56715700 single base substitution G A intron_variant ESAD-UK 12 56715700 56715700 single base substitution G A upstream_gene_variant ESAD-UK 12 56717214 56717214 single base substitution A C downstream_gene_variant ESAD-UK 12 56717214 56717214 single base substitution A C intron_variant ESAD-UK 12 56717214 56717214 single base substitution A C upstream_gene_variant ESAD-UK 12 56724895 56724895 single base substitution T G downstream_gene_variant ESAD-UK 12 56724895 56724895 single base substitution T G intron_variant ESAD-UK 12 56724895 56724895 single base substitution T G upstream_gene_variant ESAD-UK 12 56727754 56727754 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 56727754 56727754 single base substitution C A exon_variant ESAD-UK 12 56727754 56727754 single base substitution C A upstream_gene_variant ESAD-UK 12 56727981 56727981 single base substitution G T upstream_gene_variant ESAD-UK 12 56728148 56728148 single base substitution G T upstream_gene_variant ESAD-UK 12 56730176 56730176 single base substitution G A upstream_gene_variant ESAD-UK 12 56731333 56731333 single base substitution C A upstream_gene_variant ESAD-UK 12 56731367 56731367 single base substitution T C upstream_gene_variant ESCA-CN 12 56716460 56716460 single base substitution C T downstream_gene_variant ESCA-CN 12 56716460 56716460 single base substitution C T exon_variant ESCA-CN 12 56716460 56716460 single base substitution C T missense_variant R859H 2576G>A ESCA-CN 12 56716460 56716460 single base substitution C T missense_variant R862H 2585G>A ESCA-CN 12 56716460 56716460 single base substitution C T missense_variant R863H 2588G>A ESCA-CN 12 56716460 56716460 single base substitution C T upstream_gene_variant ESCA-CN 12 56722222 56722222 single base substitution C T downstream_gene_variant ESCA-CN 12 56722222 56722222 single base substitution C T intron_variant ESCA-CN 12 56722222 56722222 single base substitution C T upstream_gene_variant GBM-US 12 56717611 56717611 single base substitution A T downstream_gene_variant GBM-US 12 56717611 56717611 single base substitution A T exon_variant GBM-US 12 56717611 56717611 single base substitution A T missense_variant C718S 2152T>A GBM-US 12 56717611 56717611 single base substitution A T missense_variant C721S 2161T>A GBM-US 12 56717611 56717611 single base substitution A T missense_variant C722S 2164T>A GBM-US 12 56717611 56717611 single base substitution A T upstream_gene_variant KIRC-US 12 56705186 56705186 single base substitution G A downstream_gene_variant KIRC-US 12 56720186 56720186 single base substitution G C downstream_gene_variant KIRC-US 12 56720186 56720186 single base substitution G C exon_variant KIRC-US 12 56720186 56720186 single base substitution G C missense_variant P424A 1270C>G KIRC-US 12 56720186 56720186 single base substitution G C upstream_gene_variant KIRC-US 12 56720445 56720445 single base substitution T C downstream_gene_variant KIRC-US 12 56720445 56720445 single base substitution T C exon_variant KIRC-US 12 56720445 56720445 single base substitution T C synonymous_variant T406T 1218A>G KIRC-US 12 56720445 56720445 single base substitution T C upstream_gene_variant KIRP-US 12 56720460 56720460 single base substitution T C downstream_gene_variant KIRP-US 12 56720460 56720460 single base substitution T C exon_variant KIRP-US 12 56720460 56720460 single base substitution T C synonymous_variant P401P 1203A>G KIRP-US 12 56720460 56720460 single base substitution T C upstream_gene_variant LAML-KR 12 56713694 56713694 single base substitution A G downstream_gene_variant LAML-KR 12 56713694 56713694 single base substitution A G exon_variant LAML-KR 12 56713694 56713694 single base substitution A G missense_variant I967T 2900T>C LAML-KR 12 56713694 56713694 single base substitution A G missense_variant I970T 2909T>C LAML-KR 12 56713694 56713694 single base substitution A G missense_variant I971T 2912T>C LAML-KR 12 56713694 56713694 single base substitution A G upstream_gene_variant LGG-US 12 56721813 56721813 deletion of <=200bp T - downstream_gene_variant LGG-US 12 56721813 56721813 deletion of <=200bp T - exon_variant LGG-US 12 56721813 56721813 deletion of <=200bp T - frameshift_variant N206 LGG-US 12 56721813 56721813 deletion of <=200bp T - frameshift_variant N67 LGG-US 12 56721813 56721813 deletion of <=200bp T - upstream_gene_variant LICA-FR 12 56708940 56708940 single base substitution C T downstream_gene_variant LICA-FR 12 56714848 56714848 deletion of <=200bp A - downstream_gene_variant LICA-FR 12 56714848 56714848 deletion of <=200bp A - intron_variant LICA-FR 12 56714848 56714848 deletion of <=200bp A - upstream_gene_variant LICA-FR 12 56717126 56717126 single base substitution A G downstream_gene_variant LICA-FR 12 56717126 56717126 single base substitution A G exon_variant LICA-FR 12 56717126 56717126 single base substitution A G missense_variant S772P 2314T>C LICA-FR 12 56717126 56717126 single base substitution A G missense_variant S775P 2323T>C LICA-FR 12 56717126 56717126 single base substitution A G missense_variant S776P 2326T>C LICA-FR 12 56717126 56717126 single base substitution A G upstream_gene_variant LICA-FR 12 56720433 56720433 single base substitution A C downstream_gene_variant LICA-FR 12 56720433 56720433 single base substitution A C exon_variant LICA-FR 12 56720433 56720433 single base substitution A C missense_variant D410E 1230T>G LICA-FR 12 56720433 56720433 single base substitution A C upstream_gene_variant LICA-FR 12 56722114 56722114 single base substitution G A downstream_gene_variant LICA-FR 12 56722114 56722114 single base substitution G A exon_variant LICA-FR 12 56722114 56722114 single base substitution G A missense_variant L161F 481C>T LICA-FR 12 56722114 56722114 single base substitution G A missense_variant L22F 64C>T LICA-FR 12 56722114 56722114 single base substitution G A upstream_gene_variant LICA-FR 12 56731013 56731014 deletion of <=200bp TT - upstream_gene_variant LIHC-US 12 56708752 56708752 single base substitution T C downstream_gene_variant LIHC-US 12 56708923 56708923 single base substitution G A downstream_gene_variant LIHC-US 12 56713721 56713721 single base substitution G A downstream_gene_variant LIHC-US 12 56713721 56713721 single base substitution G A exon_variant LIHC-US 12 56713721 56713721 single base substitution G A missense_variant P958L 2873C>T LIHC-US 12 56713721 56713721 single base substitution G A missense_variant P961L 2882C>T LIHC-US 12 56713721 56713721 single base substitution G A missense_variant P962L 2885C>T LIHC-US 12 56713721 56713721 single base substitution G A upstream_gene_variant LIHC-US 12 56720646 56720646 single base substitution T C downstream_gene_variant LIHC-US 12 56720646 56720646 single base substitution T C exon_variant LIHC-US 12 56720646 56720646 single base substitution T C synonymous_variant S339S 1017A>G LIHC-US 12 56720646 56720646 single base substitution T C upstream_gene_variant LIHC-US 12 56726754 56726754 single base substitution T C exon_variant LIHC-US 12 56726754 56726754 single base substitution T C intron_variant LIHC-US 12 56726754 56726754 single base substitution T C missense_variant E42G 125A>G LIHC-US 12 56726754 56726754 single base substitution T C upstream_gene_variant LINC-JP 12 56711071 56711071 single base substitution A G 3_prime_UTR_variant LINC-JP 12 56711071 56711071 single base substitution A G downstream_gene_variant LINC-JP 12 56711071 56711071 single base substitution A G exon_variant LINC-JP 12 56717221 56717221 single base substitution G A downstream_gene_variant LINC-JP 12 56717221 56717221 single base substitution G A intron_variant LINC-JP 12 56717221 56717221 single base substitution G A upstream_gene_variant LINC-JP 12 56718919 56718919 single base substitution T C downstream_gene_variant LINC-JP 12 56718919 56718919 single base substitution T C exon_variant LINC-JP 12 56718919 56718919 single base substitution T C splice_region_variant LINC-JP 12 56718919 56718919 single base substitution T C upstream_gene_variant LINC-JP 12 56719918 56719918 single base substitution T A downstream_gene_variant LINC-JP 12 56719918 56719918 single base substitution T A intron_variant LINC-JP 12 56719918 56719918 single base substitution T A upstream_gene_variant LINC-JP 12 56720277 56720277 single base substitution G A downstream_gene_variant LINC-JP 12 56720277 56720277 single base substitution G A intron_variant LINC-JP 12 56720277 56720277 single base substitution G A upstream_gene_variant LINC-JP 12 56720424 56720424 single base substitution A G downstream_gene_variant LINC-JP 12 56720424 56720424 single base substitution A G exon_variant LINC-JP 12 56720424 56720424 single base substitution A G synonymous_variant A413A 1239T>C LINC-JP 12 56720424 56720424 single base substitution A G upstream_gene_variant LINC-JP 12 56721178 56721178 single base substitution T C downstream_gene_variant LINC-JP 12 56721178 56721178 single base substitution T C exon_variant LINC-JP 12 56721178 56721178 single base substitution T C missense_variant T297A 889A>G LINC-JP 12 56721178 56721178 single base substitution T C upstream_gene_variant LINC-JP 12 56729797 56729797 single base substitution T A upstream_gene_variant LINC-JP 12 56732719 56732719 single base substitution G C upstream_gene_variant LIRI-JP 12 56705210 56705210 single base substitution C T downstream_gene_variant LIRI-JP 12 56709638 56709638 single base substitution G A downstream_gene_variant LIRI-JP 12 56712783 56712783 single base substitution A T downstream_gene_variant LIRI-JP 12 56712783 56712783 single base substitution A T intron_variant LIRI-JP 12 56712783 56712783 single base substitution A T upstream_gene_variant LIRI-JP 12 56713141 56713141 insertion of <=200bp - T downstream_gene_variant LIRI-JP 12 56713141 56713141 insertion of <=200bp - T exon_variant LIRI-JP 12 56713141 56713141 insertion of <=200bp - T frameshift_variant K1074K? LIRI-JP 12 56713141 56713141 insertion of <=200bp - T frameshift_variant K1077K? LIRI-JP 12 56713141 56713141 insertion of <=200bp - T frameshift_variant K1078K? LIRI-JP 12 56713141 56713141 insertion of <=200bp - T upstream_gene_variant LIRI-JP 12 56715725 56715725 single base substitution A C downstream_gene_variant LIRI-JP 12 56715725 56715725 single base substitution A C intron_variant LIRI-JP 12 56715725 56715725 single base substitution A C upstream_gene_variant LIRI-JP 12 56717762 56717762 insertion of <=200bp - CT downstream_gene_variant LIRI-JP 12 56717762 56717762 insertion of <=200bp - CT exon_variant LIRI-JP 12 56717762 56717762 insertion of <=200bp - CT intron_variant LIRI-JP 12 56717762 56717762 insertion of <=200bp - CT upstream_gene_variant LIRI-JP 12 56717846 56717846 single base substitution G A downstream_gene_variant LIRI-JP 12 56717846 56717846 single base substitution G A exon_variant LIRI-JP 12 56717846 56717846 single base substitution G A synonymous_variant L683L 2049C>T LIRI-JP 12 56717846 56717846 single base substitution G A synonymous_variant L684L 2052C>T LIRI-JP 12 56717846 56717846 single base substitution G A upstream_gene_variant LIRI-JP 12 56718916 56718916 single base substitution A C downstream_gene_variant LIRI-JP 12 56718916 56718916 single base substitution A C exon_variant LIRI-JP 12 56718916 56718916 single base substitution A C splice_region_variant LIRI-JP 12 56718916 56718916 single base substitution A C upstream_gene_variant LIRI-JP 12 56727919 56727919 single base substitution T C upstream_gene_variant LIRI-JP 12 56731220 56731220 single base substitution C T upstream_gene_variant LUSC-KR 12 56706754 56706754 single base substitution A G downstream_gene_variant LUSC-KR 12 56709242 56709242 single base substitution G A downstream_gene_variant LUSC-KR 12 56711371 56711371 single base substitution C T 3_prime_UTR_variant LUSC-KR 12 56711371 56711371 single base substitution C T downstream_gene_variant LUSC-KR 12 56711371 56711371 single base substitution C T exon_variant LUSC-KR 12 56715344 56715344 single base substitution A T downstream_gene_variant LUSC-KR 12 56715344 56715344 single base substitution A T intron_variant LUSC-KR 12 56715344 56715344 single base substitution A T upstream_gene_variant LUSC-KR 12 56716492 56716492 single base substitution C G downstream_gene_variant LUSC-KR 12 56716492 56716492 single base substitution C G exon_variant LUSC-KR 12 56716492 56716492 single base substitution C G synonymous_variant L848L 2544G>C LUSC-KR 12 56716492 56716492 single base substitution C G synonymous_variant L851L 2553G>C LUSC-KR 12 56716492 56716492 single base substitution C G synonymous_variant L852L 2556G>C LUSC-KR 12 56716492 56716492 single base substitution C G upstream_gene_variant LUSC-KR 12 56719457 56719457 single base substitution C G downstream_gene_variant LUSC-KR 12 56719457 56719457 single base substitution C G intron_variant LUSC-KR 12 56719457 56719457 single base substitution C G upstream_gene_variant LUSC-KR 12 56721376 56721376 single base substitution C T downstream_gene_variant LUSC-KR 12 56721376 56721376 single base substitution C T exon_variant LUSC-KR 12 56721376 56721376 single base substitution C T missense_variant E231K 691G>A LUSC-KR 12 56721376 56721376 single base substitution C T missense_variant E92K 274G>A LUSC-KR 12 56721376 56721376 single base substitution C T upstream_gene_variant LUSC-KR 12 56721439 56721439 single base substitution C A downstream_gene_variant LUSC-KR 12 56721439 56721439 single base substitution C A intron_variant LUSC-KR 12 56721439 56721439 single base substitution C A upstream_gene_variant LUSC-KR 12 56731722 56731722 single base substitution A G upstream_gene_variant LUSC-US 12 56711394 56711394 single base substitution C A downstream_gene_variant LUSC-US 12 56711394 56711394 single base substitution C A exon_variant LUSC-US 12 56711394 56711394 single base substitution C A stop_lost *1199L 3596G>T LUSC-US 12 56711394 56711394 single base substitution C A stop_lost *1202L 3605G>T LUSC-US 12 56711394 56711394 single base substitution C A stop_lost *1203L 3608G>T LUSC-US 12 56713650 56713650 single base substitution C T downstream_gene_variant LUSC-US 12 56713650 56713650 single base substitution C T missense_variant E982K 2944G>A LUSC-US 12 56713650 56713650 single base substitution C T missense_variant E985K 2953G>A LUSC-US 12 56713650 56713650 single base substitution C T missense_variant E986K 2956G>A LUSC-US 12 56713650 56713650 single base substitution C T splice_region_variant LUSC-US 12 56713650 56713650 single base substitution C T upstream_gene_variant LUSC-US 12 56716415 56716415 single base substitution T A downstream_gene_variant LUSC-US 12 56716415 56716415 single base substitution T A exon_variant LUSC-US 12 56716415 56716415 single base substitution T A missense_variant Y874F 2621A>T LUSC-US 12 56716415 56716415 single base substitution T A missense_variant Y877F 2630A>T LUSC-US 12 56716415 56716415 single base substitution T A missense_variant Y878F 2633A>T LUSC-US 12 56716415 56716415 single base substitution T A upstream_gene_variant LUSC-US 12 56717636 56717636 single base substitution C T downstream_gene_variant LUSC-US 12 56717636 56717636 single base substitution C T exon_variant LUSC-US 12 56717636 56717636 single base substitution C T synonymous_variant Q709Q 2127G>A LUSC-US 12 56717636 56717636 single base substitution C T synonymous_variant Q712Q 2136G>A LUSC-US 12 56717636 56717636 single base substitution C T synonymous_variant Q713Q 2139G>A LUSC-US 12 56717636 56717636 single base substitution C T upstream_gene_variant LUSC-US 12 56718474 56718474 single base substitution G A downstream_gene_variant LUSC-US 12 56718474 56718474 single base substitution G A exon_variant LUSC-US 12 56718474 56718474 single base substitution G A missense_variant P540L 1619C>T LUSC-US 12 56718474 56718474 single base substitution G A upstream_gene_variant LUSC-US 12 56720625 56720625 single base substitution G T downstream_gene_variant LUSC-US 12 56720625 56720625 single base substitution G T exon_variant LUSC-US 12 56720625 56720625 single base substitution G T synonymous_variant A346A 1038C>A LUSC-US 12 56720625 56720625 single base substitution G T upstream_gene_variant LUSC-US 12 56721407 56721407 single base substitution C T downstream_gene_variant LUSC-US 12 56721407 56721407 single base substitution C T exon_variant LUSC-US 12 56721407 56721407 single base substitution C T synonymous_variant L220L 660G>A LUSC-US 12 56721407 56721407 single base substitution C T synonymous_variant L81L 243G>A LUSC-US 12 56721407 56721407 single base substitution C T upstream_gene_variant LUSC-US 12 56722284 56722284 single base substitution G A downstream_gene_variant LUSC-US 12 56722284 56722284 single base substitution G A exon_variant LUSC-US 12 56722284 56722284 single base substitution G A missense_variant R142C 424C>T LUSC-US 12 56722284 56722284 single base substitution G A missense_variant R3C 7C>T LUSC-US 12 56722284 56722284 single base substitution G A upstream_gene_variant MALY-DE 12 56731204 56731204 single base substitution G C upstream_gene_variant MELA-AU 12 56705636 56705636 single base substitution T C downstream_gene_variant MELA-AU 12 56708186 56708186 single base substitution C G downstream_gene_variant MELA-AU 12 56708459 56708459 single base substitution G C downstream_gene_variant MELA-AU 12 56708497 56708497 single base substitution C T downstream_gene_variant MELA-AU 12 56710125 56710125 single base substitution C T 3_prime_UTR_variant MELA-AU 12 56710125 56710125 single base substitution C T downstream_gene_variant MELA-AU 12 56710340 56710340 single base substitution C T 3_prime_UTR_variant MELA-AU 12 56710340 56710340 single base substitution C T downstream_gene_variant MELA-AU 12 56710342 56710342 single base substitution C T 3_prime_UTR_variant MELA-AU 12 56710342 56710342 single base substitution C T downstream_gene_variant MELA-AU 12 56711262 56711262 single base substitution C T 3_prime_UTR_variant MELA-AU 12 56711262 56711262 single base substitution C T downstream_gene_variant MELA-AU 12 56711262 56711262 single base substitution C T exon_variant MELA-AU 12 56711436 56711436 single base substitution G A downstream_gene_variant MELA-AU 12 56711436 56711436 single base substitution G A intron_variant MELA-AU 12 56712239 56712239 single base substitution A T downstream_gene_variant MELA-AU 12 56712239 56712239 single base substitution A T exon_variant MELA-AU 12 56712239 56712239 single base substitution A T intron_variant MELA-AU 12 56712240 56712240 single base substitution T A downstream_gene_variant MELA-AU 12 56712240 56712240 single base substitution T A exon_variant MELA-AU 12 56712240 56712240 single base substitution T A intron_variant MELA-AU 12 56713288 56713289 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 56713288 56713289 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 56713288 56713289 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 56713696 56713696 single base substitution C T downstream_gene_variant MELA-AU 12 56713696 56713696 single base substitution C T exon_variant MELA-AU 12 56713696 56713696 single base substitution C T synonymous_variant Q966Q 2898G>A MELA-AU 12 56713696 56713696 single base substitution C T synonymous_variant Q969Q 2907G>A MELA-AU 12 56713696 56713696 single base substitution C T synonymous_variant Q970Q 2910G>A MELA-AU 12 56713696 56713696 single base substitution C T upstream_gene_variant MELA-AU 12 56714631 56714631 single base substitution G A downstream_gene_variant MELA-AU 12 56714631 56714631 single base substitution G A intron_variant MELA-AU 12 56714631 56714631 single base substitution G A upstream_gene_variant MELA-AU 12 56716147 56716147 single base substitution A C downstream_gene_variant MELA-AU 12 56716147 56716147 single base substitution A C exon_variant MELA-AU 12 56716147 56716147 single base substitution A C intron_variant MELA-AU 12 56716147 56716147 single base substitution A C upstream_gene_variant MELA-AU 12 56716424 56716424 single base substitution C T downstream_gene_variant MELA-AU 12 56716424 56716424 single base substitution C T exon_variant MELA-AU 12 56716424 56716424 single base substitution C T missense_variant G871E 2612G>A MELA-AU 12 56716424 56716424 single base substitution C T missense_variant G874E 2621G>A MELA-AU 12 56716424 56716424 single base substitution C T missense_variant G875E 2624G>A MELA-AU 12 56716424 56716424 single base substitution C T upstream_gene_variant MELA-AU 12 56716918 56716918 single base substitution G A downstream_gene_variant MELA-AU 12 56716918 56716918 single base substitution G A exon_variant MELA-AU 12 56716918 56716918 single base substitution G A synonymous_variant F807F 2421C>T MELA-AU 12 56716918 56716918 single base substitution G A synonymous_variant F810F 2430C>T MELA-AU 12 56716918 56716918 single base substitution G A synonymous_variant F811F 2433C>T MELA-AU 12 56716918 56716918 single base substitution G A upstream_gene_variant MELA-AU 12 56717390 56717390 single base substitution G A downstream_gene_variant MELA-AU 12 56717390 56717390 single base substitution G A splice_region_variant MELA-AU 12 56717390 56717390 single base substitution G A upstream_gene_variant MELA-AU 12 56717430 56717430 single base substitution G A downstream_gene_variant MELA-AU 12 56717430 56717430 single base substitution G A intron_variant MELA-AU 12 56717430 56717430 single base substitution G A upstream_gene_variant MELA-AU 12 56717702 56717702 single base substitution G A downstream_gene_variant MELA-AU 12 56717702 56717702 single base substitution G A exon_variant MELA-AU 12 56717702 56717702 single base substitution G A splice_region_variant MELA-AU 12 56717702 56717702 single base substitution G A upstream_gene_variant MELA-AU 12 56717704 56717704 single base substitution G A downstream_gene_variant MELA-AU 12 56717704 56717704 single base substitution G A exon_variant MELA-AU 12 56717704 56717704 single base substitution G A splice_region_variant MELA-AU 12 56717704 56717704 single base substitution G A upstream_gene_variant MELA-AU 12 56718501 56718501 single base substitution G A downstream_gene_variant MELA-AU 12 56718501 56718501 single base substitution G A splice_region_variant MELA-AU 12 56718501 56718501 single base substitution G A upstream_gene_variant MELA-AU 12 56719119 56719119 single base substitution C T downstream_gene_variant MELA-AU 12 56719119 56719119 single base substitution C T exon_variant MELA-AU 12 56719119 56719119 single base substitution C T splice_region_variant MELA-AU 12 56719119 56719119 single base substitution C T upstream_gene_variant MELA-AU 12 56720259 56720259 single base substitution C T downstream_gene_variant MELA-AU 12 56720259 56720259 single base substitution C T intron_variant MELA-AU 12 56720259 56720259 single base substitution C T upstream_gene_variant MELA-AU 12 56720706 56720706 single base substitution G A downstream_gene_variant MELA-AU 12 56720706 56720706 single base substitution G A exon_variant MELA-AU 12 56720706 56720706 single base substitution G A synonymous_variant N319N 957C>T MELA-AU 12 56720706 56720706 single base substitution G A upstream_gene_variant MELA-AU 12 56720788 56720788 single base substitution G A downstream_gene_variant MELA-AU 12 56720788 56720788 single base substitution G A intron_variant MELA-AU 12 56720788 56720788 single base substitution G A upstream_gene_variant MELA-AU 12 56721055 56721055 single base substitution C T downstream_gene_variant MELA-AU 12 56721055 56721055 single base substitution C T intron_variant MELA-AU 12 56721055 56721055 single base substitution C T upstream_gene_variant MELA-AU 12 56721187 56721187 single base substitution G A downstream_gene_variant MELA-AU 12 56721187 56721187 single base substitution G A exon_variant MELA-AU 12 56721187 56721187 single base substitution G A missense_variant P294S 880C>T MELA-AU 12 56721187 56721187 single base substitution G A upstream_gene_variant MELA-AU 12 56721266 56721266 single base substitution G A downstream_gene_variant MELA-AU 12 56721266 56721266 single base substitution G A exon_variant MELA-AU 12 56721266 56721266 single base substitution G A synonymous_variant L267L 801C>T MELA-AU 12 56721266 56721266 single base substitution G A upstream_gene_variant MELA-AU 12 56721504 56721504 single base substitution G A downstream_gene_variant MELA-AU 12 56721504 56721504 single base substitution G A intron_variant MELA-AU 12 56721504 56721504 single base substitution G A upstream_gene_variant MELA-AU 12 56722553 56722553 single base substitution T A downstream_gene_variant MELA-AU 12 56722553 56722553 single base substitution T A intron_variant MELA-AU 12 56722553 56722553 single base substitution T A upstream_gene_variant MELA-AU 12 56722893 56722893 single base substitution G A downstream_gene_variant MELA-AU 12 56722893 56722893 single base substitution G A intron_variant MELA-AU 12 56722893 56722893 single base substitution G A upstream_gene_variant MELA-AU 12 56723183 56723183 single base substitution G A downstream_gene_variant MELA-AU 12 56723183 56723183 single base substitution G A intron_variant MELA-AU 12 56723183 56723183 single base substitution G A upstream_gene_variant MELA-AU 12 56723214 56723215 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 56723214 56723215 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 56723214 56723215 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 56723304 56723304 single base substitution G A downstream_gene_variant MELA-AU 12 56723304 56723304 single base substitution G A intron_variant MELA-AU 12 56723304 56723304 single base substitution G A upstream_gene_variant MELA-AU 12 56723856 56723856 single base substitution C T downstream_gene_variant MELA-AU 12 56723856 56723856 single base substitution C T intron_variant MELA-AU 12 56723856 56723856 single base substitution C T upstream_gene_variant MELA-AU 12 56724088 56724088 single base substitution A G downstream_gene_variant MELA-AU 12 56724088 56724088 single base substitution A G intron_variant MELA-AU 12 56724088 56724088 single base substitution A G upstream_gene_variant MELA-AU 12 56724754 56724754 single base substitution T C downstream_gene_variant MELA-AU 12 56724754 56724754 single base substitution T C intron_variant MELA-AU 12 56724754 56724754 single base substitution T C upstream_gene_variant MELA-AU 12 56724952 56724952 single base substitution C T downstream_gene_variant MELA-AU 12 56724952 56724952 single base substitution C T intron_variant MELA-AU 12 56724952 56724952 single base substitution C T upstream_gene_variant MELA-AU 12 56725188 56725188 single base substitution G A downstream_gene_variant MELA-AU 12 56725188 56725188 single base substitution G A intron_variant MELA-AU 12 56725188 56725188 single base substitution G A upstream_gene_variant MELA-AU 12 56725247 56725247 single base substitution G A downstream_gene_variant MELA-AU 12 56725247 56725247 single base substitution G A intron_variant MELA-AU 12 56725471 56725471 single base substitution A C downstream_gene_variant MELA-AU 12 56725471 56725471 single base substitution A C intron_variant MELA-AU 12 56725845 56725845 single base substitution G A downstream_gene_variant MELA-AU 12 56725845 56725845 single base substitution G A intron_variant MELA-AU 12 56725925 56725925 single base substitution G A downstream_gene_variant MELA-AU 12 56725925 56725925 single base substitution G A intron_variant MELA-AU 12 56725937 56725937 single base substitution G A downstream_gene_variant MELA-AU 12 56725937 56725937 single base substitution G A intron_variant MELA-AU 12 56726655 56726655 single base substitution G A exon_variant MELA-AU 12 56726655 56726655 single base substitution G A intron_variant MELA-AU 12 56726655 56726655 single base substitution G A missense_variant P75L 224C>T MELA-AU 12 56727135 56727135 single base substitution G A intron_variant MELA-AU 12 56727135 56727135 single base substitution G A upstream_gene_variant MELA-AU 12 56727148 56727148 single base substitution G A intron_variant MELA-AU 12 56727148 56727148 single base substitution G A upstream_gene_variant MELA-AU 12 56727620 56727620 single base substitution G A intron_variant MELA-AU 12 56727620 56727620 single base substitution G A upstream_gene_variant MELA-AU 12 56727917 56727917 single base substitution T C upstream_gene_variant MELA-AU 12 56729042 56729042 single base substitution G A upstream_gene_variant MELA-AU 12 56729123 56729123 single base substitution G A upstream_gene_variant MELA-AU 12 56729263 56729263 single base substitution G T upstream_gene_variant MELA-AU 12 56729531 56729531 single base substitution G A upstream_gene_variant MELA-AU 12 56729784 56729784 single base substitution G A upstream_gene_variant MELA-AU 12 56730067 56730067 single base substitution G A upstream_gene_variant MELA-AU 12 56730261 56730261 single base substitution A G upstream_gene_variant MELA-AU 12 56730564 56730564 single base substitution G A upstream_gene_variant MELA-AU 12 56730777 56730777 single base substitution C T upstream_gene_variant MELA-AU 12 56732328 56732328 single base substitution C T upstream_gene_variant ORCA-IN 12 56716519 56716519 single base substitution C A downstream_gene_variant ORCA-IN 12 56716519 56716519 single base substitution C A exon_variant ORCA-IN 12 56716519 56716519 single base substitution C A missense_variant E839D 2517G>T ORCA-IN 12 56716519 56716519 single base substitution C A missense_variant E842D 2526G>T ORCA-IN 12 56716519 56716519 single base substitution C A missense_variant E843D 2529G>T ORCA-IN 12 56716519 56716519 single base substitution C A upstream_gene_variant OV-AU 12 56706813 56706813 single base substitution C T downstream_gene_variant OV-AU 12 56710194 56710194 single base substitution G C 3_prime_UTR_variant OV-AU 12 56710194 56710194 single base substitution G C downstream_gene_variant OV-AU 12 56717861 56717861 single base substitution A T downstream_gene_variant OV-AU 12 56717861 56717861 single base substitution A T exon_variant OV-AU 12 56717861 56717861 single base substitution A T synonymous_variant T678T 2034T>A OV-AU 12 56717861 56717861 single base substitution A T synonymous_variant T679T 2037T>A OV-AU 12 56717861 56717861 single base substitution A T upstream_gene_variant OV-AU 12 56720422 56720422 single base substitution G C downstream_gene_variant OV-AU 12 56720422 56720422 single base substitution G C exon_variant OV-AU 12 56720422 56720422 single base substitution G C missense_variant A414G 1241C>G OV-AU 12 56720422 56720422 single base substitution G C upstream_gene_variant OV-AU 12 56724467 56724467 single base substitution G T downstream_gene_variant OV-AU 12 56724467 56724467 single base substitution G T intron_variant OV-AU 12 56724467 56724467 single base substitution G T upstream_gene_variant OV-AU 12 56727836 56727836 single base substitution A T 5_prime_UTR_variant OV-AU 12 56727836 56727836 single base substitution A T upstream_gene_variant OV-AU 12 56727895 56727895 single base substitution A T upstream_gene_variant PACA-AU 12 56706629 56706629 single base substitution A T downstream_gene_variant PACA-AU 12 56710316 56710316 single base substitution A G 3_prime_UTR_variant PACA-AU 12 56710316 56710316 single base substitution A G downstream_gene_variant PACA-AU 12 56712174 56712174 single base substitution G A downstream_gene_variant PACA-AU 12 56712174 56712174 single base substitution G A exon_variant PACA-AU 12 56712174 56712174 single base substitution G A intron_variant PACA-AU 12 56712174 56712174 single base substitution G A missense_variant R1137C 3409C>T PACA-AU 12 56712174 56712174 single base substitution G A missense_variant R1140C 3418C>T PACA-AU 12 56712174 56712174 single base substitution G A missense_variant R1141C 3421C>T PACA-AU 12 56715651 56715651 single base substitution T A downstream_gene_variant PACA-AU 12 56715651 56715651 single base substitution T A intron_variant PACA-AU 12 56715651 56715651 single base substitution T A upstream_gene_variant PACA-AU 12 56731126 56731126 single base substitution G T upstream_gene_variant PACA-AU 12 56731782 56731782 single base substitution G T upstream_gene_variant PACA-AU 12 56731794 56731794 single base substitution C A upstream_gene_variant PACA-CA 12 56710197 56710197 single base substitution T G 3_prime_UTR_variant PACA-CA 12 56710197 56710197 single base substitution T G downstream_gene_variant PACA-CA 12 56711566 56711566 single base substitution T C downstream_gene_variant PACA-CA 12 56711566 56711566 single base substitution T C intron_variant PACA-CA 12 56716475 56716475 single base substitution T A downstream_gene_variant PACA-CA 12 56716475 56716475 single base substitution T A exon_variant PACA-CA 12 56716475 56716475 single base substitution T A missense_variant H854L 2561A>T PACA-CA 12 56716475 56716475 single base substitution T A missense_variant H857L 2570A>T PACA-CA 12 56716475 56716475 single base substitution T A missense_variant H858L 2573A>T PACA-CA 12 56716475 56716475 single base substitution T A upstream_gene_variant PACA-CA 12 56722074 56722074 single base substitution A G downstream_gene_variant PACA-CA 12 56722074 56722074 single base substitution A G exon_variant PACA-CA 12 56722074 56722074 single base substitution A G missense_variant L174P 521T>C PACA-CA 12 56722074 56722074 single base substitution A G missense_variant L35P 104T>C PACA-CA 12 56722074 56722074 single base substitution A G upstream_gene_variant PACA-CA 12 56722511 56722511 single base substitution G A downstream_gene_variant PACA-CA 12 56722511 56722511 single base substitution G A intron_variant PACA-CA 12 56722511 56722511 single base substitution G A upstream_gene_variant PACA-CA 12 56723355 56723355 single base substitution T C downstream_gene_variant PACA-CA 12 56723355 56723355 single base substitution T C intron_variant PACA-CA 12 56723355 56723355 single base substitution T C upstream_gene_variant PACA-CA 12 56724592 56724592 insertion of <=200bp - T downstream_gene_variant PACA-CA 12 56724592 56724592 insertion of <=200bp - T intron_variant PACA-CA 12 56724592 56724592 insertion of <=200bp - T upstream_gene_variant PACA-CA 12 56728511 56728514 deletion of <=200bp TAAT - upstream_gene_variant PACA-CA 12 56729270 56729270 single base substitution A G upstream_gene_variant PACA-CA 12 56731820 56731820 single base substitution G C upstream_gene_variant PACA-CA 12 56731823 56731823 single base substitution T A upstream_gene_variant PAEN-AU 12 56707046 56707046 single base substitution G T downstream_gene_variant PAEN-IT 12 56713050 56713050 single base substitution G T downstream_gene_variant PAEN-IT 12 56713050 56713050 single base substitution G T exon_variant PAEN-IT 12 56713050 56713050 single base substitution G T intron_variant PAEN-IT 12 56713050 56713050 single base substitution G T upstream_gene_variant PBCA-DE 12 56715726 56715726 single base substitution G A downstream_gene_variant PBCA-DE 12 56715726 56715726 single base substitution G A intron_variant PBCA-DE 12 56715726 56715726 single base substitution G A upstream_gene_variant PBCA-DE 12 56722149 56722149 single base substitution G T downstream_gene_variant PBCA-DE 12 56722149 56722149 single base substitution G T splice_region_variant PBCA-DE 12 56722149 56722149 single base substitution G T upstream_gene_variant PBCA-DE 12 56727725 56727725 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 12 56727725 56727725 single base substitution G A exon_variant PBCA-DE 12 56727725 56727725 single base substitution G A upstream_gene_variant PRAD-CA 12 56730191 56730191 single base substitution C T upstream_gene_variant PRAD-CA 12 56731197 56731197 single base substitution G T upstream_gene_variant PRAD-UK 12 56706776 56706776 single base substitution T A downstream_gene_variant PRAD-UK 12 56727550 56727550 deletion of <=200bp T - intron_variant PRAD-UK 12 56727550 56727550 deletion of <=200bp T - upstream_gene_variant PRAD-UK 12 56727826 56727826 insertion of <=200bp - GGCTC 5_prime_UTR_variant PRAD-UK 12 56727826 56727826 insertion of <=200bp - GGCTC upstream_gene_variant PRAD-UK 12 56727928 56727928 single base substitution C T upstream_gene_variant PRAD-UK 12 56732571 56732571 single base substitution G A upstream_gene_variant PRAD-US 12 56705008 56705008 single base substitution G T downstream_gene_variant PRAD-US 12 56711419 56711419 single base substitution C T downstream_gene_variant PRAD-US 12 56711419 56711419 single base substitution C T exon_variant PRAD-US 12 56711419 56711419 single base substitution C T missense_variant V1191I 3571G>A PRAD-US 12 56711419 56711419 single base substitution C T missense_variant V1194I 3580G>A PRAD-US 12 56711419 56711419 single base substitution C T missense_variant V1195I 3583G>A PRAD-US 12 56713245 56713245 single base substitution C T downstream_gene_variant PRAD-US 12 56713245 56713245 single base substitution C T exon_variant PRAD-US 12 56713245 56713245 single base substitution C T synonymous_variant S1039S 3117G>A PRAD-US 12 56713245 56713245 single base substitution C T synonymous_variant S1042S 3126G>A PRAD-US 12 56713245 56713245 single base substitution C T synonymous_variant S1043S 3129G>A PRAD-US 12 56713245 56713245 single base substitution C T upstream_gene_variant PRAD-US 12 56721408 56721408 single base substitution A G downstream_gene_variant PRAD-US 12 56721408 56721408 single base substitution A G exon_variant PRAD-US 12 56721408 56721408 single base substitution A G missense_variant L220P 659T>C PRAD-US 12 56721408 56721408 single base substitution A G missense_variant L81P 242T>C PRAD-US 12 56721408 56721408 single base substitution A G upstream_gene_variant PRAD-US 12 56722258 56722258 single base substitution G A downstream_gene_variant PRAD-US 12 56722258 56722258 single base substitution G A splice_region_variant PRAD-US 12 56722258 56722258 single base substitution G A upstream_gene_variant READ-US 12 56705176 56705176 single base substitution G A downstream_gene_variant RECA-EU 12 56709994 56709994 single base substitution T A downstream_gene_variant RECA-EU 12 56710415 56710415 single base substitution T G 3_prime_UTR_variant RECA-EU 12 56710415 56710415 single base substitution T G downstream_gene_variant SKCA-BR 12 56707312 56707312 single base substitution T C downstream_gene_variant SKCA-BR 12 56711559 56711559 single base substitution G A downstream_gene_variant SKCA-BR 12 56711559 56711559 single base substitution G A intron_variant SKCA-BR 12 56716381 56716381 single base substitution C T downstream_gene_variant SKCA-BR 12 56716381 56716381 single base substitution C T exon_variant SKCA-BR 12 56716381 56716381 single base substitution C T intron_variant SKCA-BR 12 56716381 56716381 single base substitution C T upstream_gene_variant SKCA-BR 12 56718262 56718262 single base substitution G A downstream_gene_variant SKCA-BR 12 56718262 56718262 single base substitution G A exon_variant SKCA-BR 12 56718262 56718262 single base substitution G A missense_variant R582W 1744C>T SKCA-BR 12 56718262 56718262 single base substitution G A upstream_gene_variant SKCA-BR 12 56718289 56718289 single base substitution T C downstream_gene_variant SKCA-BR 12 56718289 56718289 single base substitution T C intron_variant SKCA-BR 12 56718289 56718289 single base substitution T C upstream_gene_variant SKCA-BR 12 56720707 56720707 single base substitution T G downstream_gene_variant SKCA-BR 12 56720707 56720707 single base substitution T G exon_variant SKCA-BR 12 56720707 56720707 single base substitution T G missense_variant N319T 956A>C SKCA-BR 12 56720707 56720707 single base substitution T G upstream_gene_variant SKCA-BR 12 56726363 56726363 single base substitution G A downstream_gene_variant SKCA-BR 12 56726363 56726363 single base substitution G A intron_variant SKCA-BR 12 56731318 56731318 single base substitution G A upstream_gene_variant SKCM-US 12 56705059 56705059 single base substitution G A downstream_gene_variant SKCM-US 12 56708919 56708919 single base substitution C G downstream_gene_variant SKCM-US 12 56708936 56708936 single base substitution C T downstream_gene_variant SKCM-US 12 56711414 56711414 single base substitution G T downstream_gene_variant SKCM-US 12 56711414 56711414 single base substitution G T exon_variant SKCM-US 12 56711414 56711414 single base substitution G T missense_variant F1192L 3576C>A SKCM-US 12 56711414 56711414 single base substitution G T missense_variant F1195L 3585C>A SKCM-US 12 56711414 56711414 single base substitution G T missense_variant F1196L 3588C>A SKCM-US 12 56712110 56712110 single base substitution G A downstream_gene_variant SKCM-US 12 56712110 56712110 single base substitution G A exon_variant SKCM-US 12 56712110 56712110 single base substitution G A intron_variant SKCM-US 12 56712110 56712110 single base substitution G A missense_variant S1158F 3473C>T SKCM-US 12 56712110 56712110 single base substitution G A missense_variant S1161F 3482C>T SKCM-US 12 56712110 56712110 single base substitution G A missense_variant S1162F 3485C>T SKCM-US 12 56712947 56712947 single base substitution G A downstream_gene_variant SKCM-US 12 56712947 56712947 single base substitution G A exon_variant SKCM-US 12 56712947 56712947 single base substitution G A intron_variant SKCM-US 12 56712947 56712947 single base substitution G A missense_variant L1097F 3289C>T SKCM-US 12 56712947 56712947 single base substitution G A missense_variant L1100F 3298C>T SKCM-US 12 56712947 56712947 single base substitution G A missense_variant L1101F 3301C>T SKCM-US 12 56712947 56712947 single base substitution G A upstream_gene_variant SKCM-US 12 56713271 56713271 single base substitution C G downstream_gene_variant SKCM-US 12 56713271 56713271 single base substitution C G exon_variant SKCM-US 12 56713271 56713271 single base substitution C G missense_variant V1031L 3091G>C SKCM-US 12 56713271 56713271 single base substitution C G missense_variant V1034L 3100G>C SKCM-US 12 56713271 56713271 single base substitution C G missense_variant V1035L 3103G>C SKCM-US 12 56713271 56713271 single base substitution C G splice_region_variant SKCM-US 12 56713271 56713271 single base substitution C G upstream_gene_variant SKCM-US 12 56715907 56715907 single base substitution G A downstream_gene_variant SKCM-US 12 56715907 56715907 single base substitution G A exon_variant SKCM-US 12 56715907 56715907 single base substitution G A missense_variant L915F 2743C>T SKCM-US 12 56715907 56715907 single base substitution G A missense_variant L918F 2752C>T SKCM-US 12 56715907 56715907 single base substitution G A missense_variant L919F 2755C>T SKCM-US 12 56715907 56715907 single base substitution G A upstream_gene_variant SKCM-US 12 56716906 56716906 single base substitution C T downstream_gene_variant SKCM-US 12 56716906 56716906 single base substitution C T exon_variant SKCM-US 12 56716906 56716906 single base substitution C T missense_variant M811I 2433G>A SKCM-US 12 56716906 56716906 single base substitution C T missense_variant M814I 2442G>A SKCM-US 12 56716906 56716906 single base substitution C T missense_variant M815I 2445G>A SKCM-US 12 56716906 56716906 single base substitution C T upstream_gene_variant SKCM-US 12 56717878 56717878 single base substitution C T downstream_gene_variant SKCM-US 12 56717878 56717878 single base substitution C T exon_variant SKCM-US 12 56717878 56717878 single base substitution C T missense_variant V673M 2017G>A SKCM-US 12 56717878 56717878 single base substitution C T missense_variant V674M 2020G>A SKCM-US 12 56717878 56717878 single base substitution C T upstream_gene_variant SKCM-US 12 56718094 56718094 single base substitution G A downstream_gene_variant SKCM-US 12 56718094 56718094 single base substitution G A exon_variant SKCM-US 12 56718094 56718094 single base substitution G A stop_gained R638* 1912C>T SKCM-US 12 56718094 56718094 single base substitution G A upstream_gene_variant SKCM-US 12 56719165 56719165 single base substitution C T downstream_gene_variant SKCM-US 12 56719165 56719165 single base substitution C T exon_variant SKCM-US 12 56719165 56719165 single base substitution C T missense_variant R478Q 1433G>A SKCM-US 12 56719165 56719165 single base substitution C T upstream_gene_variant SKCM-US 12 56720705 56720705 single base substitution G A downstream_gene_variant SKCM-US 12 56720705 56720705 single base substitution G A exon_variant SKCM-US 12 56720705 56720705 single base substitution G A missense_variant P320S 958C>T SKCM-US 12 56720705 56720705 single base substitution G A upstream_gene_variant SKCM-US 12 56721154 56721154 single base substitution G A downstream_gene_variant SKCM-US 12 56721154 56721154 single base substitution G A exon_variant SKCM-US 12 56721154 56721154 single base substitution G A stop_gained Q305* 913C>T SKCM-US 12 56721154 56721154 single base substitution G A upstream_gene_variant SKCM-US 12 56721365 56721365 single base substitution G A downstream_gene_variant SKCM-US 12 56721365 56721365 single base substitution G A exon_variant SKCM-US 12 56721365 56721365 single base substitution G A synonymous_variant A234A 702C>T SKCM-US 12 56721365 56721365 single base substitution G A synonymous_variant A95A 285C>T SKCM-US 12 56721365 56721365 single base substitution G A upstream_gene_variant SKCM-US 12 56721416 56721416 single base substitution C T downstream_gene_variant SKCM-US 12 56721416 56721416 single base substitution C T splice_acceptor_variant SKCM-US 12 56721416 56721416 single base substitution C T upstream_gene_variant SKCM-US 12 56722320 56722320 single base substitution G A 5_prime_UTR_variant SKCM-US 12 56722320 56722320 single base substitution G A downstream_gene_variant SKCM-US 12 56722320 56722320 single base substitution G A exon_variant SKCM-US 12 56722320 56722320 single base substitution G A missense_variant L130F 388C>T SKCM-US 12 56722320 56722320 single base substitution G A upstream_gene_variant SKCM-US 12 56722378 56722378 single base substitution G A 5_prime_UTR_variant SKCM-US 12 56722378 56722378 single base substitution G A downstream_gene_variant SKCM-US 12 56722378 56722378 single base substitution G A exon_variant SKCM-US 12 56722378 56722378 single base substitution G A synonymous_variant S110S 330C>T SKCM-US 12 56722378 56722378 single base substitution G A upstream_gene_variant SKCM-US 12 56726705 56726705 single base substitution C T exon_variant SKCM-US 12 56726705 56726705 single base substitution C T intron_variant SKCM-US 12 56726705 56726705 single base substitution C T missense_variant M58I 174G>A SKCM-US 12 56726705 56726705 single base substitution C T upstream_gene_variant STAD-US 12 56712173 56712173 single base substitution C T downstream_gene_variant STAD-US 12 56712173 56712173 single base substitution C T exon_variant STAD-US 12 56712173 56712173 single base substitution C T intron_variant STAD-US 12 56712173 56712173 single base substitution C T missense_variant R1137H 3410G>A STAD-US 12 56712173 56712173 single base substitution C T missense_variant R1140H 3419G>A STAD-US 12 56712173 56712173 single base substitution C T missense_variant R1141H 3422G>A STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - downstream_gene_variant STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - frameshift_variant FLD1120 STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - frameshift_variant FLD1123 STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - frameshift_variant FLD1124 STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - intron_variant STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - splice_donor_variant STAD-US 12 56712865 56712876 deletion of <=200bp AACTCACCCAGA - upstream_gene_variant STAD-US 12 56713165 56713165 single base substitution C T downstream_gene_variant STAD-US 12 56713165 56713165 single base substitution C T exon_variant STAD-US 12 56713165 56713165 single base substitution C T missense_variant R1066H 3197G>A STAD-US 12 56713165 56713165 single base substitution C T missense_variant R1069H 3206G>A STAD-US 12 56713165 56713165 single base substitution C T missense_variant R1070H 3209G>A STAD-US 12 56713165 56713165 single base substitution C T upstream_gene_variant STAD-US 12 56716264 56716264 single base substitution G A downstream_gene_variant STAD-US 12 56716264 56716264 single base substitution G A exon_variant STAD-US 12 56716264 56716264 single base substitution G A splice_region_variant STAD-US 12 56716264 56716264 single base substitution G A upstream_gene_variant STAD-US 12 56716461 56716461 single base substitution G A downstream_gene_variant STAD-US 12 56716461 56716461 single base substitution G A exon_variant STAD-US 12 56716461 56716461 single base substitution G A missense_variant R859C 2575C>T STAD-US 12 56716461 56716461 single base substitution G A missense_variant R862C 2584C>T STAD-US 12 56716461 56716461 single base substitution G A missense_variant R863C 2587C>T STAD-US 12 56716461 56716461 single base substitution G A upstream_gene_variant STAD-US 12 56717366 56717366 single base substitution A G downstream_gene_variant STAD-US 12 56717366 56717366 single base substitution A G exon_variant STAD-US 12 56717366 56717366 single base substitution A G missense_variant I730T 2189T>C STAD-US 12 56717366 56717366 single base substitution A G missense_variant I733T 2198T>C STAD-US 12 56717366 56717366 single base substitution A G missense_variant I734T 2201T>C STAD-US 12 56717366 56717366 single base substitution A G upstream_gene_variant STAD-US 12 56717655 56717655 single base substitution C T downstream_gene_variant STAD-US 12 56717655 56717655 single base substitution C T exon_variant STAD-US 12 56717655 56717655 single base substitution C T missense_variant R703Q 2108G>A STAD-US 12 56717655 56717655 single base substitution C T missense_variant R706Q 2117G>A STAD-US 12 56717655 56717655 single base substitution C T missense_variant R707Q 2120G>A STAD-US 12 56717655 56717655 single base substitution C T upstream_gene_variant STAD-US 12 56718087 56718087 single base substitution G A downstream_gene_variant STAD-US 12 56718087 56718087 single base substitution G A exon_variant STAD-US 12 56718087 56718087 single base substitution G A missense_variant A640V 1919C>T STAD-US 12 56718087 56718087 single base substitution G A upstream_gene_variant STAD-US 12 56718164 56718164 single base substitution C G downstream_gene_variant STAD-US 12 56718164 56718164 single base substitution C G exon_variant STAD-US 12 56718164 56718164 single base substitution C G missense_variant Q614H 1842G>C STAD-US 12 56718164 56718164 single base substitution C G upstream_gene_variant STAD-US 12 56718366 56718366 single base substitution T C downstream_gene_variant STAD-US 12 56718366 56718366 single base substitution T C missense_variant Q576R 1727A>G STAD-US 12 56718366 56718366 single base substitution T C splice_region_variant STAD-US 12 56718366 56718366 single base substitution T C upstream_gene_variant STAD-US 12 56719213 56719213 single base substitution T C downstream_gene_variant STAD-US 12 56719213 56719213 single base substitution T C exon_variant STAD-US 12 56719213 56719213 single base substitution T C missense_variant D462G 1385A>G STAD-US 12 56719213 56719213 single base substitution T C upstream_gene_variant STAD-US 12 56720627 56720627 single base substitution C T downstream_gene_variant STAD-US 12 56720627 56720627 single base substitution C T exon_variant STAD-US 12 56720627 56720627 single base substitution C T missense_variant A346T 1036G>A STAD-US 12 56720627 56720627 single base substitution C T upstream_gene_variant STAD-US 12 56720737 56720737 single base substitution C T downstream_gene_variant STAD-US 12 56720737 56720737 single base substitution C T exon_variant STAD-US 12 56720737 56720737 single base substitution C T missense_variant C309Y 926G>A STAD-US 12 56720737 56720737 single base substitution C T upstream_gene_variant STAD-US 12 56721843 56721843 single base substitution G A downstream_gene_variant STAD-US 12 56721843 56721843 single base substitution G A exon_variant STAD-US 12 56721843 56721843 single base substitution G A missense_variant T196M 587C>T STAD-US 12 56721843 56721843 single base substitution G A missense_variant T57M 170C>T STAD-US 12 56721843 56721843 single base substitution G A upstream_gene_variant STAD-US 12 56722284 56722284 single base substitution G A downstream_gene_variant STAD-US 12 56722284 56722284 single base substitution G A exon_variant STAD-US 12 56722284 56722284 single base substitution G A missense_variant R142C 424C>T STAD-US 12 56722284 56722284 single base substitution G A missense_variant R3C 7C>T STAD-US 12 56722284 56722284 single base substitution G A upstream_gene_variant THCA-SA 12 56713719 56713719 single base substitution G C downstream_gene_variant THCA-SA 12 56713719 56713719 single base substitution G C exon_variant THCA-SA 12 56713719 56713719 single base substitution G C missense_variant L959V 2875C>G THCA-SA 12 56713719 56713719 single base substitution G C missense_variant L962V 2884C>G THCA-SA 12 56713719 56713719 single base substitution G C missense_variant L963V 2887C>G THCA-SA 12 56713719 56713719 single base substitution G C upstream_gene_variant UCEC-US 12 56705098 56705098 single base substitution C T downstream_gene_variant UCEC-US 12 56713126 56713126 single base substitution C T downstream_gene_variant UCEC-US 12 56713126 56713126 single base substitution C T exon_variant UCEC-US 12 56713126 56713126 single base substitution C T missense_variant G1079D 3236G>A UCEC-US 12 56713126 56713126 single base substitution C T missense_variant G1082D 3245G>A UCEC-US 12 56713126 56713126 single base substitution C T missense_variant G1083D 3248G>A UCEC-US 12 56713126 56713126 single base substitution C T upstream_gene_variant UCEC-US 12 56713762 56713762 single base substitution C T downstream_gene_variant UCEC-US 12 56713762 56713762 single base substitution C T exon_variant UCEC-US 12 56713762 56713762 single base substitution C T synonymous_variant S944S 2832G>A UCEC-US 12 56713762 56713762 single base substitution C T synonymous_variant S947S 2841G>A UCEC-US 12 56713762 56713762 single base substitution C T synonymous_variant S948S 2844G>A UCEC-US 12 56713762 56713762 single base substitution C T upstream_gene_variant UCEC-US 12 56715945 56715945 single base substitution G T downstream_gene_variant UCEC-US 12 56715945 56715945 single base substitution G T exon_variant UCEC-US 12 56715945 56715945 single base substitution G T missense_variant A902D 2705C>A UCEC-US 12 56715945 56715945 single base substitution G T missense_variant A905D 2714C>A UCEC-US 12 56715945 56715945 single base substitution G T missense_variant A906D 2717C>A UCEC-US 12 56715945 56715945 single base substitution G T upstream_gene_variant UCEC-US 12 56716264 56716264 single base substitution G A downstream_gene_variant UCEC-US 12 56716264 56716264 single base substitution G A exon_variant UCEC-US 12 56716264 56716264 single base substitution G A splice_region_variant UCEC-US 12 56716264 56716264 single base substitution G A upstream_gene_variant UCEC-US 12 56716446 56716446 single base substitution G T downstream_gene_variant UCEC-US 12 56716446 56716446 single base substitution G T exon_variant UCEC-US 12 56716446 56716446 single base substitution G T missense_variant L864M 2590C>A UCEC-US 12 56716446 56716446 single base substitution G T missense_variant L867M 2599C>A UCEC-US 12 56716446 56716446 single base substitution G T missense_variant L868M 2602C>A UCEC-US 12 56716446 56716446 single base substitution G T upstream_gene_variant UCEC-US 12 56716516 56716516 single base substitution C A downstream_gene_variant UCEC-US 12 56716516 56716516 single base substitution C A exon_variant UCEC-US 12 56716516 56716516 single base substitution C A missense_variant E840D 2520G>T UCEC-US 12 56716516 56716516 single base substitution C A missense_variant E843D 2529G>T UCEC-US 12 56716516 56716516 single base substitution C A missense_variant E844D 2532G>T UCEC-US 12 56716516 56716516 single base substitution C A upstream_gene_variant UCEC-US 12 56717132 56717132 single base substitution C A downstream_gene_variant UCEC-US 12 56717132 56717132 single base substitution C A exon_variant UCEC-US 12 56717132 56717132 single base substitution C A stop_gained E770* 2308G>T UCEC-US 12 56717132 56717132 single base substitution C A stop_gained E773* 2317G>T UCEC-US 12 56717132 56717132 single base substitution C A stop_gained E774* 2320G>T UCEC-US 12 56717132 56717132 single base substitution C A upstream_gene_variant UCEC-US 12 56718411 56718411 single base substitution C T downstream_gene_variant UCEC-US 12 56718411 56718411 single base substitution C T exon_variant UCEC-US 12 56718411 56718411 single base substitution C T missense_variant G561D 1682G>A UCEC-US 12 56718411 56718411 single base substitution C T upstream_gene_variant UCEC-US 12 56719124 56719124 single base substitution G A downstream_gene_variant UCEC-US 12 56719124 56719124 single base substitution G A exon_variant UCEC-US 12 56719124 56719124 single base substitution G A missense_variant R492C 1474C>T UCEC-US 12 56719124 56719124 single base substitution G A upstream_gene_variant UCEC-US 12 56719148 56719148 single base substitution G T downstream_gene_variant UCEC-US 12 56719148 56719148 single base substitution G T exon_variant UCEC-US 12 56719148 56719148 single base substitution G T missense_variant L484I 1450C>A UCEC-US 12 56719148 56719148 single base substitution G T upstream_gene_variant UCEC-US 12 56720582 56720582 single base substitution G T downstream_gene_variant UCEC-US 12 56720582 56720582 single base substitution G T exon_variant UCEC-US 12 56720582 56720582 single base substitution G T missense_variant P361T 1081C>A UCEC-US 12 56720582 56720582 single base substitution G T upstream_gene_variant UCEC-US 12 56720671 56720671 single base substitution G T downstream_gene_variant UCEC-US 12 56720671 56720671 single base substitution G T exon_variant UCEC-US 12 56720671 56720671 single base substitution G T missense_variant P331H 992C>A UCEC-US 12 56720671 56720671 single base substitution G T upstream_gene_variant UCEC-US 12 56722080 56722080 single base substitution C T downstream_gene_variant UCEC-US 12 56722080 56722080 single base substitution C T exon_variant UCEC-US 12 56722080 56722080 single base substitution C T missense_variant G172D 515G>A UCEC-US 12 56722080 56722080 single base substitution C T missense_variant G33D 98G>A UCEC-US 12 56722080 56722080 single base substitution C T upstream_gene_variant UCEC-US 12 56722294 56722294 single base substitution C A 5_prime_UTR_variant UCEC-US 12 56722294 56722294 single base substitution C A downstream_gene_variant UCEC-US 12 56722294 56722294 single base substitution C A exon_variant UCEC-US 12 56722294 56722294 single base substitution C A missense_variant K138N 414G>T UCEC-US 12 56722294 56722294 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DK-A1AC-01 COSM1299672 c.1051G>A p.E351K Substitution - Missense 12:56326828-56326828 - HCC62T COSM1606391 c.1480-7A>G p.? Unknown 12:56325135-56325135 - TCGA-CU-A3KJ-01 COSM1299669 c.1744C>T p.R582W Substitution - Missense 12:56324478-56324478 - B101 COSM694470 c.660G>A p.L220L Substitution - coding silent 12:56327623-56327623 - TCGA-EB-A4P0-01 COSM3463437 c.3091G>C p.V1031L Substitution - Missense 12:56319487-56319487 - MOLT-4 COSM1677089 c.271G>A p.G91R Substitution - Missense 12:56332824-56332824 - B74 COSM1747152 c.964G>A p.D322N Substitution - Missense 12:56326915-56326915 - TCGA-DK-A1AC-01 COSM1299667 c.2365G>A p.E789K Substitution - Missense 12:56323190-56323190 - WA51 COSM241040 c.1412T>C p.V471A Substitution - Missense 12:56325402-56325402 - TCGA-42-2587-01 COSM1322369 c.2990A>T p.K997I Substitution - Missense 12:56319721-56319721 - KM12 COSM1677087 c.1534A>G p.N512D Substitution - Missense 12:56325074-56325074 - 1 COSM1716072 c.3253C>T p.R1085W Substitution - Missense 12:56319325-56319325 - 169 COSM3728962 c.652-5delT p.? Unknown 12:56327636-56327636 - CSCC-31-T COSM4463095 c.1275C>T p.P425P Substitution - coding silent 12:56326397-56326397 - sysucc-1163T COSM5458394 c.1429G>T p.G477* Substitution - Nonsense 12:56325385-56325385 - TCGA-BQ-7050-01 COSM3987074 c.1203A>G p.P401P Substitution - coding silent 12:56326676-56326676 - 2293782 COSM4608460 c.3494G>T p.G1165V Substitution - Missense 12:56318305-56318305 - STC263 COSM5051773 c.1732A>G p.N578D Substitution - Missense 12:56324490-56324490 - ESCC_116 COSM5639867 c.1430G>T p.G477V Substitution - Missense 12:56325384-56325384 - CRC-02T COSM5454148 c.2001C>T p.C667C Substitution - coding silent 12:56324113-56324113 - LUAD-NYU184 COSM370738 c.2168C>T p.P723L Substitution - Missense 12:56323811-56323811 - TCGA-B5-A11E-01 COSM941632 c.3236G>A p.G1079D Substitution - Missense 12:56319342-56319342 - B52 COSM1747153 c.727G>A p.D243N Substitution - Missense 12:56327556-56327556 - TCGA-FV-A3R3-01 COSM4921890 c.1017A>G p.S339S Substitution - coding silent 12:56326862-56326862 - TCGA-CJ-5680-01 COSM468667 c.1270C>G p.P424A Substitution - Missense 12:56326402-56326402 - TCGA-DK-A3IS-01 COSM1299668 c.2052C>G p.L684L Substitution - coding silent 12:56324062-56324062 - TCGA-AA-3866-01 COSM296115 c.762C>T p.F254F Substitution - coding silent 12:56327521-56327521 - CN-AML-25-T COSM4908632 c.2900T>C p.I967T Substitution - Missense 12:56319910-56319910 - AOCS-056-1-X COSM4150253 c.2037T>A p.T679T Substitution - coding silent 12:56324077-56324077 - pfg019T COSM1639180 c.1294C>T p.R432C Substitution - Missense 12:56326378-56326378 - PD23559a COSM5784418 c.1137C>G p.L379L Substitution - coding silent 12:56326742-56326742 - TCGA-A5-A0GH-01 COSM941644 c.515G>A p.G172D Substitution - Missense 12:56328296-56328296 - TCGA-ES-A2HS-01 COSM4910613 c.125A>G p.E42G Substitution - Missense 12:56332970-56332970 - 12T COSM106316 c.1852C>T p.R618C Substitution - Missense 12:56324370-56324370 - BD121T COSM5515489 c.3138C>T p.L1046L Substitution - coding silent 12:56319440-56319440 - TCGA-B0-5702-01 COSM468666 c.3028C>T p.R1010W Substitution - Missense 12:56319683-56319683 - 107529 COSM96274 c.1317C>T p.F439F Substitution - coding silent 12:56326355-56326355 - TCGA-D8-A13Y-01 COSM431512 c.2883G>A p.L961L Substitution - coding silent 12:56319927-56319927 - TARGET-30-PAPUWY COSM1286955 c.1265G>A p.R422Q Substitution - Missense 12:56326407-56326407 - TCGA-66-2792-01 COSM694475 c.2127G>A p.Q709Q Substitution - coding silent 12:56323852-56323852 - TCGA-GN-A269-01 COSM3872089 c.702C>T p.A234A Substitution - coding silent 12:56327581-56327581 - QC2-18-T2 COSM5652615 c.2805G>C p.E935D Substitution - Missense 12:56320005-56320005 - EC109 COSM5049340 c.752C>T p.A251V Substitution - Missense 12:56327531-56327531 - RKO COSM1936144 c.279C>T p.H93H Substitution - coding silent 12:56332816-56332816 - ESCC_116 COSM5639868 c.1432delC p.R478fs*17 Deletion - Frameshift 12:56325382-56325382 - TCGA-66-2788-01 COSM694469 c.424C>T p.R142C Substitution - Missense 12:56328500-56328500 - TCGA-DK-A1AC-01 COSM1299671 c.1159G>A p.D387N Substitution - Missense 12:56326720-56326720 - ESCC_31 COSM5627769 c.2203G>A p.D735N Substitution - Missense 12:56323568-56323568 - BCM337T COSM4799093 c.2314T>C p.S772P Substitution - Missense 12:56323342-56323342 - TCGA-J9-A52C-01 COSM4877004 c.3117G>A p.S1039S Substitution - coding silent 12:56319461-56319461 - B101-Tumor COSM694470 c.660G>A p.L220L Substitution - coding silent 12:56327623-56327623 - TCGA-FD-A3NA-01 COSM1299674 c.605T>A p.M202K Substitution - Missense 12:56328041-56328041 - TCGA-AP-A051-01 COSM941642 c.1081C>A p.P361T Substitution - Missense 12:56326798-56326798 - MZ7-mel COSM24332 c.1587C>T p.N529N Substitution - coding silent 12:56325021-56325021 - 169 COSM3728780 c.1848G>A p.W616* Substitution - Nonsense 12:56324374-56324374 - TCGA-C8-A3M7-01 COSM3812579 c.3204C>T p.L1068L Substitution - coding silent 12:56319374-56319374 - TCGA-D1-A103-01 COSM941640 c.1474C>T p.R492C Substitution - Missense 12:56325340-56325340 - TCGA-FP-A4BE-01 COSM1260851 c.2575C>T p.R859C Substitution - Missense 12:56322677-56322677 - YUKAT COSM5375621 c.361C>T p.Q121* Substitution - Nonsense 12:56328563-56328563 - C547 COSM4442368 c.1351C>T p.R451C Substitution - Missense 12:56326321-56326321 - TCGA-BR-4184-01 COSM941635 c.2640C>T p.G880G Substitution - coding silent 12:56322480-56322480 - TCGA-BR-6452-01 COSM4043596 c.1385A>G p.D462G Substitution - Missense 12:56325429-56325429 - I2L-P7-Tumor-Organoid COSM5361295 c.1621delG p.V541fs*4 Deletion - Frameshift 12:56324688-56324688 - TCGA-FW-A3R5-06 COSM3872088 c.3473C>T p.S1158F Substitution - Missense 12:56318326-56318326 - HDC90 COSM1936146 c.201C>T p.S67S Substitution - coding silent 12:56332894-56332894 - TCGA-FW-A3TU-06 COSM3463436 c.3289C>T p.L1097F Substitution - Missense 12:56319163-56319163 - BD72T COSM5512911 c.963C>T p.A321A Substitution - coding silent 12:56326916-56326916 - T2940 COSM4710936 c.2962C>T p.R988C Substitution - Missense 12:56319749-56319749 - sysucc-1247T COSM5764636 c.253G>A p.E85K Substitution - Missense 12:56332842-56332842 - 207T COSM1726919 c.829G>T p.A277S Substitution - Missense 12:56327454-56327454 - LUAD-S00488 COSM394971 c.376G>T p.E126* Substitution - Nonsense 12:56328548-56328548 - RK035_C01 COSM1628724 c.1480-4T>G p.? Unknown 12:56325132-56325132 - HCT8 COSM1677088 c.1432C>T p.R478* Substitution - Nonsense 12:56325382-56325382 - RKO COSM4647642 c.2973T>C p.G991G Substitution - coding silent 12:56319738-56319738 - CHC796T COSM4496730 c.481C>T p.L161F Substitution - Missense 12:56328330-56328330 - pfg277T COSM4755885 c.2842A>G p.K948E Substitution - Missense 12:56319968-56319968 - ESO-0001 COSM1260851 c.2575C>T p.R859C Substitution - Missense 12:56322677-56322677 - TCGA-KK-A6E3-01 COSM4877801 c.3571G>A p.V1191I Substitution - Missense 12:56317635-56317635 - 585267 COSM326059 c.3523T>A p.W1175R Substitution - Missense 12:56318276-56318276 - Pat_41_B COSM5841536 c.710G>A p.G237E Substitution - Missense 12:56327573-56327573 - C086 COSM5536449 c.2388C>T p.S796S Substitution - coding silent 12:56323167-56323167 - TCGA-66-2791-01 COSM694477 c.2944G>A p.E982K Substitution - Missense 12:56319866-56319866 - 8015299 COSM1168761 c.3409C>T p.R1137C Substitution - Missense 12:56318390-56318390 - CN-AML-NR-25-Dx COSM4908632 c.2900T>C p.I967T Substitution - Missense 12:56319910-56319910 - PT45 COSM5927683 c.91C>T p.P31S Substitution - Missense 12:56333004-56333004 - TCGA-FV-A23B-01 COSM4914080 c.2873C>T p.P958L Substitution - Missense 12:56319937-56319937 - TCGA-EE-A2MU-06 COSM3463442 c.958C>T p.P320S Substitution - Missense 12:56326921-56326921 - TCGA-21-5782-01 COSM694471 c.1038C>A p.A346A Substitution - coding silent 12:56326841-56326841 - T3090 COSM4710935 c.3134A>G p.D1045G Substitution - Missense 12:56319444-56319444 - T3535 COSM4710934 c.3527A>C p.K1176T Substitution - Missense 12:56318272-56318272 - TCGA-AA-3870-01 COSM296320 c.3339G>C p.L1113L Substitution - coding silent 12:56319113-56319113 - PD4602a COSM163244 c.2258G>C p.R753T Substitution - Missense 12:56323513-56323513 - TCGA-GC-A3I6-01 COSM1299670 c.1291C>G p.L431V Substitution - Missense 12:56326381-56326381 - TCGA-DK-A1AC-01 COSM1299675 c.411C>T p.L137L Substitution - coding silent 12:56328513-56328513 - CSCC-57-T COSM4486536 c.3055C>T p.P1019S Substitution - Missense 12:56319656-56319656 - TCGA-C5-A1MK-01 COSM4826770 c.100C>T p.L34L Substitution - coding silent 12:56332995-56332995 - SC_9076 COSM5553907 c.3060C>T p.F1020F Substitution - coding silent 12:56319651-56319651 - TCGA-BR-7707-01 COSM4043595 c.1727A>G p.Q576R Substitution - Missense 12:56324582-56324582 - TCGA-BR-4292-01 COSM4043593 c.1919C>T p.A640V Substitution - Missense 12:56324303-56324303 - TCGA-F1-6874-01 COSM4043597 c.1036G>A p.A346T Substitution - Missense 12:56326843-56326843 - TCGA-D1-A103-01 COSM941639 c.1682G>A p.G561D Substitution - Missense 12:56324627-56324627 - SA228 COSM214068 c.2212G>C p.V738L Substitution - Missense 12:56323559-56323559 - TCGA-BR-4370-01 COSM4043599 c.587C>T p.T196M Substitution - Missense 12:56328059-56328059 - TCGA-DK-A3X1-01 COSM3792831 c.2784G>A p.L928L Substitution - coding silent 12:56322082-56322082 - TCGA-CU-A0YR-01 COSM416147 c.1050T>C p.S350S Substitution - coding silent 12:56326829-56326829 - T10 COSM5617749 c.2391T>G p.I797M Substitution - Missense 12:56323164-56323164 - RK004_C01 COSM1628722 c.3221_3222insA p.F1075fs*24 Insertion - Frameshift 12:56319356-56319357 - BN13 COSM1606392 c.1239T>C p.A413A Substitution - coding silent 12:56326640-56326640 - TCGA-EE-A3AF-06 COSM3463449 c.174G>A p.M58I Substitution - Missense 12:56332921-56332921 - T15 COSM549195 c.280G>T p.G94W Substitution - Missense 12:56332815-56332815 - 587342 COSM1219177 c.653T>C p.V218A Substitution - Missense 12:56327630-56327630 - B110-Tumor COSM1747151 c.1112A>T p.E371V Substitution - Missense 12:56326767-56326767 - TCGA-D1-A103-01 COSM941634 c.2705C>A p.A902D Substitution - Missense 12:56322161-56322161 - LUAD-CHTN-3090416 COSM357500 c.489G>C p.L163L Substitution - coding silent 12:56328322-56328322 - A6 COSM5349836 c.49A>T p.M17L Substitution - Missense 12:56333046-56333046 - LOVO COSM1168761 c.3409C>T p.R1137C Substitution - Missense 12:56318390-56318390 - B55-Tumor COSM3931699 c.2013T>G p.S671R Substitution - Missense 12:56324101-56324101 - TCGA-22-4613-01 COSM694476 c.2621A>T p.Y874F Substitution - Missense 12:56322631-56322631 - SNU-175 COSM1936067 c.2975C>T p.T992I Substitution - Missense 12:56319736-56319736 - HCC62 COSM1606391 c.1480-7A>G p.? Unknown 12:56325135-56325135 - TCGA-CD-8536-01 COSM347536 c.3410G>A p.R1137H Substitution - Missense 12:56318389-56318389 - TCGA-CG-5721-01 COSM4043591 c.3197G>A p.R1066H Substitution - Missense 12:56319381-56319381 - ML_79_T_01 COSM304700 c.956A>C p.N319T Substitution - Missense 12:56326923-56326923 - TCGA-EE-A2MR-06 COSM3463441 c.1433G>A p.R478Q Substitution - Missense 12:56325381-56325381 - TCGA-A8-A09Z-01 COSM3812581 c.1138G>A p.V380M Substitution - Missense 12:56326741-56326741 - ESCC-059T COSM3936060 c.2576G>A p.R859H Substitution - Missense 12:56322676-56322676 - LUAD-RT-S01702 COSM379013 c.2524G>A p.G842S Substitution - Missense 12:56322728-56322728 - PR-00-1165 COSM242588 c.2407G>A p.V803I Substitution - Missense 12:56323148-56323148 - TCGA-ER-A198-06 COSM3463439 c.2433G>A p.M811I Substitution - Missense 12:56323122-56323122 - TCGA-GV-A3QI-01 COSM1299665 c.3048G>T p.E1016D Substitution - Missense 12:56319663-56319663 - BD13T COSM5504997 c.3029G>A p.R1010Q Substitution - Missense 12:56319682-56319682 - TCGA-AZ-6601-01 COSM1363090 c.3414A>G p.T1138T Substitution - coding silent 12:56318385-56318385 - TCGA-BH-A0BF-01 COSM3812582 c.732G>T p.V244V Substitution - coding silent 12:56327551-56327551 - TCGA-39-5031-01 COSM694470 c.660G>A p.L220L Substitution - coding silent 12:56327623-56327623 - TCGA-KK-A6E2-01 COSM4879332 c.450C>T p.Y150Y Substitution - coding silent 12:56328474-56328474 - HT115 COSM1936059 c.3431G>A p.R1144Q Substitution - Missense 12:56318368-56318368 - B74-Tumor COSM1747152 c.964G>A p.D322N Substitution - Missense 12:56326915-56326915 - TCGA-60-2722-01 COSM694478 c.3596G>T p.*1199L Nonstop extension 12:56317610-56317610 - TCGA-FS-A1Z0-06 COSM3463435 c.3576C>A p.F1192L Substitution - Missense 12:56317630-56317630 - Pat_16_B COSM4442368 c.1351C>T p.R451C Substitution - Missense 12:56326321-56326321 - 587224 COSM1219176 c.1728G>T p.Q576H Substitution - Missense 12:56324581-56324581 - T2944 COSM4710937 c.2301C>T p.H767H Substitution - coding silent 12:56323355-56323355 - TCGA-18-3409-01 COSM694474 c.1619C>T p.P540L Substitution - Missense 12:56324690-56324690 - Gp5D COSM1936062 c.3319C>T p.R1107* Substitution - Nonsense 12:56319133-56319133 - TCGA-CD-8529-01 COSM4043594 c.1842G>C p.Q614H Substitution - Missense 12:56324380-56324380 - PTC_441 COSM5957327 c.2875C>G p.L959V Substitution - Missense 12:56319935-56319935 - CSCC-41-T COSM4496730 c.481C>T p.L161F Substitution - Missense 12:56328330-56328330 - TCGA-AD-6964-01 COSM3688343 c.2172+1G>A p.? Unknown 12:56323806-56323806 - B52-Tumor COSM1747153 c.727G>A p.D243N Substitution - Missense 12:56327556-56327556 - T2197 COSM4710941 c.290C>T p.A97V Substitution - Missense 12:56328634-56328634 - HCC26T COSM3704285 c.889A>G p.T297A Substitution - Missense 12:56327394-56327394 - T3105 COSM4710938 c.1961G>T p.G654V Substitution - Missense 12:56324153-56324153 - Gp2D COSM1936062 c.3319C>T p.R1107* Substitution - Nonsense 12:56319133-56319133 - TCGA-IR-A3LH-01 COSM4832504 c.1693C>T p.H565Y Substitution - Missense 12:56324616-56324616 - TCGA-G2-A2EL-01 COSM1299673 c.697G>C p.D233H Substitution - Missense 12:56327586-56327586 - HCC26 COSM3704285 c.889A>G p.T297A Substitution - Missense 12:56327394-56327394 - pfg181T COSM4747301 c.3579_3581delCTC p.S1194delS Deletion - In frame 12:56317625-56317627 - TCGA-AM-5820-01 COSM3688344 c.1493A>G p.Y498C Substitution - Missense 12:56325115-56325115 - TCGA-61-1904-01 COSM1322368 c.2482G>C p.D828H Substitution - Missense 12:56323073-56323073 - TCGA-23-2079-01 COSM72061 c.2301C>A p.H767Q Substitution - Missense 12:56323355-56323355 - TCGA-AP-A059-01 COSM941636 c.2590C>A p.L864M Substitution - Missense 12:56322662-56322662 - CRC-1 COSM304700 c.956A>C p.N319T Substitution - Missense 12:56326923-56326923 - TCGA-AX-A05Z-01 COSM941645 c.414G>T p.K138N Substitution - Missense 12:56328510-56328510 - pfg081T COSM4755886 c.1433G>T p.R478L Substitution - Missense 12:56325381-56325381 - DLD1 COSM1677088 c.1432C>T p.R478* Substitution - Nonsense 12:56325382-56325382 - Mx43 COSM32985 c.3590C>T p.A1197V Substitution - Missense 12:56317616-56317616 - BCM337T COSM4799093 c.2314T>C p.S772P Substitution - Missense 12:56323342-56323342 - TCGA-BS-A0UV-01 COSM941641 c.1450C>A p.L484I Substitution - Missense 12:56325364-56325364 - T2269 COSM4710940 c.895C>T p.R299C Substitution - Missense 12:56327388-56327388 - TCGA-GF-A6C9-06 COSM4902023 c.1912C>T p.R638* Substitution - Nonsense 12:56324310-56324310 - ESO-0292 COSM1241540 c.1812A>G p.S604S Substitution - coding silent 12:56324410-56324410 - TCGA-25-1632-01 COSM82272 c.1551T>G p.A517A Substitution - coding silent 12:56325057-56325057 - TCGA-AP-A051-01 COSM941643 c.992C>A p.P331H Substitution - Missense 12:56326887-56326887 - PDA_089 COSM5002990 c.969_970delCT p.F324fs*13 Deletion - Frameshift 12:56326909-56326910 - TCGA-GV-A3JW-01 COSM1299666 c.2692G>A p.D898N Substitution - Missense 12:56322428-56322428 - HN_62505 COSM125107 c.619C>T p.R207C Substitution - Missense 12:56328027-56328027 - TCGA-AX-A05Z-01 COSM941638 c.2308G>T p.E770* Substitution - Nonsense 12:56323348-56323348 - LC_C9 COSM1188528 c.2084A>G p.Y695C Substitution - Missense 12:56323895-56323895 - TCGA-DK-A3WW-01 COSM3792832 c.493G>A p.D165N Substitution - Missense 12:56328318-56328318 - TCGA-D3-A5GU-06 COSM3463443 c.913C>T p.Q305* Substitution - Nonsense 12:56327370-56327370 - TCGA-C5-A1MQ-01 COSM4827291 c.1228G>T p.D410Y Substitution - Missense 12:56326651-56326651 - ESCC_32 COSM5628013 c.634G>A p.G212S Substitution - Missense 12:56328012-56328012 - UM-SCC-11B COSM4598116 c.767G>C p.S256T Substitution - Missense 12:56327516-56327516 - sysucc-1163T COSM5458393 c.1885C>T p.Q629* Substitution - Nonsense 12:56324337-56324337 - OSCC-GB_00990111 COSM4885869 c.2517G>T p.E839D Substitution - Missense 12:56322735-56322735 - B59-3-Tumor COSM3931700 c.1384G>A p.D462N Substitution - Missense 12:56325430-56325430 - HCT-15 COSM1677088 c.1432C>T p.R478* Substitution - Nonsense 12:56325382-56325382 - ccRCC-85 COSM1659952 c.3119G>T p.G1040V Substitution - Missense 12:56319459-56319459 - RK092_C01 COSM1628723 c.2052C>T p.L684L Substitution - coding silent 12:56324062-56324062 - Pat_11_A COSM5841535 c.2428C>T p.R810C Substitution - Missense 12:56323127-56323127 - sysucc-1512T COSM5450706 c.3116C>T p.S1039L Substitution - Missense 12:56319462-56319462 - TCGA-B0-4817-01 COSM3359845 c.1218A>G p.T406T Substitution - coding silent 12:56326661-56326661 - TCGA-HU-A4GT-01 COSM694469 c.424C>T p.R142C Substitution - Missense 12:56328500-56328500 - BN13T COSM1606392 c.1239T>C p.A413A Substitution - coding silent 12:56326640-56326640 - T2940 COSM1936082 c.2108G>A p.R703Q Substitution - Missense 12:56323871-56323871 - PCSI_0280_Pa_P_526 COSM4964431 c.2561A>T p.H854L Substitution - Missense 12:56322691-56322691 - AOCS-108-1-7 COSM4150254 c.1241C>G p.A414G Substitution - Missense 12:56326638-56326638 - TCGA-KK-A59V-01 COSM4878595 c.659T>C p.L220P Substitution - Missense 12:56327624-56327624 - TCGA-A2-A0T5-01 COSM3812580 c.1297A>C p.T433P Substitution - Missense 12:56326375-56326375 - TCGA-28-5214-01 COSM3398897 c.2152T>A p.C718S Substitution - Missense 12:56323827-56323827 - TCGA-AX-A0J1-01 COSM941633 c.2832G>A p.S944S Substitution - coding silent 12:56319978-56319978 - 96 COSM5012575 c.1192A>G p.I398V Substitution - Missense 12:56326687-56326687 - HT115 COSM1936072 c.2607A>C p.K869N Substitution - Missense 12:56322645-56322645 - TCGA-A3-3363-01 COSM1492954 c.281G>A p.G94E Substitution - Missense 12:56332814-56332814 - cSCCP5 COSM138025 c.3196C>T p.R1066C Substitution - Missense 12:56319382-56319382 - LUAD-B01811 COSM333897 c.3003G>T p.M1001I Substitution - Missense 12:56319708-56319708 - 9399_CLM COSM5753973 c.3341G>A p.R1114Q Substitution - Missense 12:56319111-56319111 - CHC1053T COSM251068 c.1230T>G p.D410E Substitution - Missense 12:56326649-56326649 - YUKAT COSM1936067 c.2975C>T p.T992I Substitution - Missense 12:56319736-56319736 - CN-AML-CR-59-Dx COSM4908632 c.2900T>C p.I967T Substitution - Missense 12:56319910-56319910 - T2932 COSM1936071 c.2630G>A p.R877H Substitution - Missense 12:56322622-56322622 - SC_9021 COSM5547854 c.887_894delATACTTCT p.Y296fs*15 Deletion - Frameshift 12:56327389-56327396 - LUAD-TLLGS COSM347536 c.3410G>A p.R1137H Substitution - Missense 12:56318389-56318389 - ESCC-D21 COSM5046102 c.3535G>T p.E1179* Substitution - Nonsense 12:56318264-56318264 - TCGA-A3-3374-01 COSM1492955 c.554C>T p.T185I Substitution - Missense 12:56328257-56328257 - sysucc-1370T COSM5470055 c.2005T>C p.C669R Substitution - Missense 12:56324109-56324109 - PT45 COSM5927684 c.2066-1G>A p.? Unknown 12:56323914-56323914 - C086 COSM5536448 c.1645C>T p.L549F Substitution - Missense 12:56324664-56324664 - TCGA-BR-A4QL-01 COSM4043598 c.926G>A p.C309Y Substitution - Missense 12:56326953-56326953 - T2269 COSM4710939 c.1363C>T p.P455S Substitution - Missense 12:56325451-56325451 - KM12 COSM1677087 c.1534A>G p.N512D Substitution - Missense 12:56325074-56325074 - TCGA-EB-A44Q-06 COSM3463444 c.652-1G>A p.? Unknown 12:56327632-56327632 - TCGA-EE-A2MS-06 COSM3463445 c.330C>T p.S110S Substitution - coding silent 12:56328594-56328594 - TCGA-BH-A18J-01 COSM431513 c.1921G>T p.G641* Substitution - Nonsense 12:56324301-56324301 - TCGA-EE-A2MI-06 COSM3463440 c.2020G>A p.V674M Substitution - Missense 12:56324094-56324094 - CHC1053T COSM251068 c.1230T>G p.D410E Substitution - Missense 12:56326649-56326649 - TCGA-GF-A6C9-06 COSM4900448 c.388C>T p.L130F Substitution - Missense 12:56328536-56328536 - TCGA-BR-7707-01 COSM941635 c.2640C>T p.G880G Substitution - coding silent 12:56322480-56322480 - TCGA-Q1-A5R2-01 COSM4850608 c.352G>A p.D118N Substitution - Missense 12:56328572-56328572 - S01512 COSM313882 c.930A>C p.Q310H Substitution - Missense 12:56326949-56326949 - PTC-28C COSM4147298 c.535A>C p.I179L Substitution - Missense 12:56328276-56328276 - TCGA-AP-A059-01 COSM941637 c.2520G>T p.E840D Substitution - Missense 12:56322732-56322732 - EGC8 COSM5051771 c.2839C>T p.R947W Substitution - Missense 12:56319971-56319971 - LUAD-S01345 COSM396899 c.1558G>C p.E520Q Substitution - Missense 12:56325050-56325050 - T2258 COSM1936060 c.3430C>T p.R1144* Substitution - Nonsense 12:56318369-56318369 - HCT15 COSM1677088 c.1432C>T p.R478* Substitution - Nonsense 12:56325382-56325382 - CHC796T COSM4496730 c.481C>T p.L161F Substitution - Missense 12:56328330-56328330 - Pat_45_A COSM5841534 c.3386C>T p.T1129I Substitution - Missense 12:56318413-56318413 - TCGA-D3-A3C7-06 COSM3463438 c.2743C>T p.L915F Substitution - Missense 12:56322123-56322123 - S01512 COSM313882 c.930A>C p.Q310H Substitution - Missense 12:56326949-56326949 - STC263 COSM5051772 c.1981A>G p.M661V Substitution - Missense 12:56324133-56324133 - TCGA-B5-A11Y-01 COSM941635 c.2640C>T p.G880G Substitution - coding silent 12:56322480-56322480 - TCGA-AP-A0LG-01 COSM941631 c.3296C>T p.T1099I Substitution - Missense 12:56319156-56319156 - TCGA-CG-5721-01 COSM1936082 c.2108G>A p.R703Q Substitution - Missense 12:56323871-56323871 - TCGA-CG-5733-01 COSM4043592 c.2189T>C p.I730T Substitution - Missense 12:56323582-56323582 - CSCC-19-T COSM4520932 c.1084G>A p.E362K Substitution - Missense 12:56326795-56326795 - LUAD-YINHD COSM348720 c.376G>A p.E126K Substitution - Missense 12:56328548-56328548 - KPOPBR-28-T COSM5964762 c.1625G>A p.R542H Substitution - Missense 12:56324684-56324684 - 43 COSM3722932 c.1007T>A p.F336Y Substitution - Missense 12:56326872-56326872 - TCGA-C8-A27B-01 COSM1476750 c.585G>C p.E195D Substitution - Missense 12:56328061-56328061 - B110 COSM1747151 c.1112A>T p.E371V Substitution - Missense 12:56326767-56326767 - TCGA-AO-A0JD-01 COSM431514 c.1071G>T p.W357C Substitution - Missense 12:56326808-56326808 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.273397 12q13.2 56233|dbSNP|BC024043|A/G|coding|Val911Val|2951|Validated; 56233|dbSNP|BC094885|A/G|coding|Val915Val|3118|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.1480-4T>G 12 56718916 HC A C Synonymous p.A517A c.1551T>G 12 56718841 OV A G IntronicSNV . c.2650-51T>C 12 56716317 CM A G Missense p.I734T c.2201T>C 12 56717366 STAD A G Synonymous p.S350S c.1050T>C 12 56720613 BLCA A T Missense p.C722S c.2164T>A 12 56717611 GBM A T Missense p.F336Y c.1007T>A 12 56720656 HNSC A T Missense p.M202K c.605T>A 12 56721825 BLCA A T Missense p.W1179R c.3535T>A 12 56712060 SCLC C A 3-UTRSNV . c.3606+2G>T 12 56711394 LUSC C A Missense p.E1020D c.3060G>T 12 56713447 BLCA C A Missense p.W357C c.1071G>T 12 56720592 BRCA C A Nonsense p.G641* c.1921G>T 12 56718085 BRCA C G IntronicSNV . c.1479+49G>C 12 56719070 CM C G Missense p.D233H c.697G>C 12 56721370 BLCA C G Missense p.E1138D c.3414G>C 12 56712181 LUAD C G Missense p.E195D c.585G>C 12 56721845 BRCA C G Missense p.R757T c.2270G>C 12 56717297 BRCA C G Missense p.V742L c.2224G>C 12 56717343 BRCA C G Synonymous p.L1117L c.3351G>C 12 56712897 COREAD C T Missense p.A346T c.1036G>A 12 56720627 STAD C T Missense p.D902N c.2704G>A 12 56716212 BLCA C T Missense p.E672K c.2014G>A 12 56717884 HNSC C T Missense p.E986K c.2956G>A 12 56713650 LUSC C T Missense p.G172D c.515G>A 12 56722080 UCEC C T Missense p.M58I c.174G>A 12 56726705 CM C T Missense p.M815I c.2445G>A 12 56716906 CM C T Missense p.R422Q c.1265G>A 12 56720191 NB C T Missense p.V1195I c.3583G>A 12 56711419 PRAD C T Missense p.V674M c.2020G>A 12 56717878 CM C T Synonymous p.A443A c.1329G>A 12 56720127 LUAD C T Synonymous p.K493K c.1479G>A 12 56719119 CM C T Synonymous p.L220L c.660G>A 12 56721407 LUSC C T Synonymous p.L965L c.2895G>A 12 56713711 BRCA C T Synonymous p.Q121Q c.363G>A 12 56722345 CM C T Synonymous p.Q713Q c.2139G>A 12 56717636 LUSC G A 3-UTRSNV . c.3606+111C>T 12 56711285 CM G A IntronicSNV . c.1479+45C>T 12 56719074 CM G A Missense p.A11V c.32C>T 12 56726847 CM G A Missense p.A640V c.1919C>T 12 56718087 STAD G A Missense p.L919F c.2755C>T 12 56715907 CM G A Missense p.P320S c.958C>T 12 56720705 CM G A Missense p.R142C c.424C>T 12 56722284 LUSC G A Missense p.R207C c.619C>T 12 56721811 HNSC G A Missense p.R432C c.1294C>T 12 56720162 STAD G A Missense p.R582W c.1744C>T 12 56718262 BLCA G A Missense p.T196M c.587C>T 12 56721843 STAD G A Synonymous p.A234A c.702C>T 12 56721365 CM G A Synonymous p.D599D c.1797C>T 12 56718209 HNSC G A Synonymous p.F254F c.762C>T 12 56721305 COREAD G A Synonymous p.F682F c.2046C>T 12 56717852 CM G A Synonymous p.G884G c.2652C>T 12 56716264 UCEC G A Synonymous p.L223L c.669C>T 12 56721398 CM G A Synonymous p.L684L c.2052C>T 12 56717846 HC G A Synonymous p.S110S c.330C>T 12 56722378 CM G A Synonymous p.S369S c.1107C>T 12 56720556 LUAD G A Synonymous p.Y150Y c.450C>T 12 56722258 PRAD G C Missense p.L431V c.1291C>G 12 56720165 BLCA G C Missense p.P424A c.1270C>G 12 56720186 RCCC G C Synonymous p.L684L c.2052C>G 12 56717846 BLCA G - Frameshift p.C312Vfs*15 c.933delC 12 56720730 BLCA G T Missense p.F1196L c.3588C>A 12 56711414 CM G T Missense p.H771Q c.2313C>A 12 56717139 OV G T Synonymous p.A346A c.1038C>A 12 56720625 LUSC T A Missense p.M964L c.2890A>T 12 56713716 LUAD T A Missense p.Y878F c.2633A>T 12 56716415 LUSC T A Synonymous p.G198G c.594A>T 12 56721836 HNSC T C Missense p.M1109V c.3325A>G 12 56712923 HNSC T C Synonymous p.T406T c.1218A>G 12 56720445 RCCC T - Frameshift p.D739Vfs*9 c.2216delA 12 56717351 HNSC - T Frameshift p.F1079Vfs*24 c.3233dupA 12 56713141 HC T - Frameshift p.N206Ifs*15 c.617delA 12 56721813 LGG T G Missense p.Q310H c.930A>C 12 56720733 SCLC