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 19 18943028 18943028 + Missense_Mutation SNP G G C TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr19:18943028G>C c.10G>C c.(10-12)Gag>Cag p.E4Q ACC 19 18966869 18966869 + Silent SNP C C G TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr19:18966869C>G c.1713C>G c.(1711-1713)gcC>gcG p.A571A BLCA 19 18943110 18943110 + Missense_Mutation SNP C C G TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr19:18943110C>G c.92C>G c.(91-93)tCc>tGc p.S31C BLCA 19 18943112 18943112 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr19:18943112G>C c.94G>C c.(94-96)Gag>Cag p.E32Q BLCA 19 18956812 18956812 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr19:18956812G>A c.255G>A c.(253-255)caG>caA p.Q85Q BLCA 19 18961517 18961517 + Missense_Mutation SNP G G A TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr19:18961517G>A c.650G>A c.(649-651)aGc>aAc p.S217N BLCA 19 18963051 18963051 + Silent SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr19:18963051C>T c.918C>T c.(916-918)ttC>ttT p.F306F BLCA 19 18963840 18963840 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr19:18963840G>A c.1017G>A c.(1015-1017)aaG>aaA p.K339K BLCA 19 18963874 18963874 + Missense_Mutation SNP G G A TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr19:18963874G>A c.1051G>A c.(1051-1053)Gac>Aac p.D351N BLCA 19 18964084 18964084 + Missense_Mutation SNP G G A TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr19:18964084G>A c.1114G>A c.(1114-1116)Gag>Aag p.E372K BLCA 19 18965421 18965421 + Missense_Mutation SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr19:18965421G>C c.1201G>C c.(1201-1203)Gag>Cag p.E401Q BLCA 19 18965463 18965463 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:18965463G>A c.1243G>A c.(1243-1245)Gag>Aag p.E415K BLCA 19 18965703 18965703 + Silent SNP G G A TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr19:18965703G>A c.1314G>A c.(1312-1314)ttG>ttA p.L438L BLCA 19 18965818 18965818 + Nonsense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr19:18965818C>T c.1429C>T c.(1429-1431)Cag>Tag p.Q477* BLCA 19 18967817 18967817 + Silent SNP C C T TCGA-FD-A6TH-01A-11D-A32B-08 TCGA-FD-A6TH-10A-01D-A329-08 g.chr19:18967817C>T c.1989C>T c.(1987-1989)ctC>ctT p.L663L BLCA 19 18968215 18968215 + Silent SNP C C T TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr19:18968215C>T c.2088C>T c.(2086-2088)ttC>ttT p.F696F BLCA 19 18968269 18968269 + Silent SNP G G C TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr19:18968269G>C c.2142G>C c.(2140-2142)cgG>cgC p.R714R BLCA 19 18968284 18968284 + Silent SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr19:18968284C>G c.2157C>G c.(2155-2157)ctC>ctG p.L719L BLCA 19 18971668 18971668 + Silent SNP G G T TCGA-DK-A6B5-01A-11D-A31L-08 TCGA-DK-A6B5-10A-01D-A31J-08 g.chr19:18971668G>T c.2367G>T c.(2365-2367)acG>acT p.T789T BLCA 19 18974296 18974296 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr19:18974296C>G c.2683C>G c.(2683-2685)Ctc>Gtc p.L895V BLCA 19 18976120 18976120 + Frame_Shift_Del DEL C C - TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr19:18976120delC c.2913delC c.(2911-2913)ttcfs p.F971fs BLCA 19 18976405 18976405 + Missense_Mutation SNP G G A TCGA-FD-A5BU-01A-31D-A26M-08 TCGA-FD-A5BU-10A-01D-A26K-08 g.chr19:18976405G>A c.3088G>A c.(3088-3090)Gga>Aga p.G1030R BLCA 19 18976891 18976891 + Frame_Shift_Del DEL C C - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 g.chr19:18976891delC c.3309delC c.(3307-3309)gacfs p.D1103fs BRCA 19 18960956 18960956 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:18960956G>A c.534G>A c.(532-534)gaG>gaA p.E178E BRCA 19 18965708 18965708 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 g.chr19:18965708C>T c.1319C>T c.(1318-1320)aCg>aTg p.T440M BRCA 19 18966900 18966900 + Splice_Site DEL T T - TCGA-B6-A0IK-01A-12W-A071-09 TCGA-B6-A0IK-10A-01W-A071-09 g.chr19:18966900delT c.e12+2 BRCA 19 18967087 18967087 + Missense_Mutation SNP C C A TCGA-LL-A5YL-01A-12D-A29N-09 TCGA-LL-A5YL-10A-01D-A29N-09 g.chr19:18967087C>A c.1835C>A c.(1834-1836)aCc>aAc p.T612N CESC 19 18966783 18966783 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr19:18966783G>A c.1627G>A c.(1627-1629)Gag>Aag p.E543K CESC 19 18967005 18967005 + Silent SNP C C T TCGA-FU-A23K-01A-11D-A16O-08 TCGA-FU-A23K-10A-01D-A16O-08 g.chr19:18967005C>T c.1753C>T c.(1753-1755)Ctg>Ttg p.L585L CESC 19 18968252 18968252 + Silent SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr19:18968252C>T c.2125C>T c.(2125-2127)Ctg>Ttg p.L709L CESC 19 18974274 18974274 + Silent SNP G G A TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr19:18974274G>A c.2661G>A c.(2659-2661)ccG>ccA p.P887P CESC 19 18976135 18976135 + Missense_Mutation SNP G G C TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chr19:18976135G>C c.2928G>C c.(2926-2928)caG>caC p.Q976H CESC 19 18976551 18976551 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr19:18976551G>A c.3234G>A c.(3232-3234)atG>atA p.M1078I COAD 19 18956815 18956815 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:18956815C>T c.258C>T c.(256-258)aaC>aaT p.N86N COAD 19 18961630 18961630 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:18961630C>T c.763C>T c.(763-765)Cgc>Tgc p.R255C COAD 19 18962987 18962987 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr19:18962987T>C c.854T>C c.(853-855)gTg>gCg p.V285A COAD 19 18963027 18963027 + Silent SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr19:18963027C>T c.894C>T c.(892-894)gaC>gaT p.D298D COAD 19 18965416 18965416 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:18965416G>A c.1196G>A c.(1195-1197)gGc>gAc p.G399D COAD 19 18965431 18965431 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr19:18965431T>C c.1211T>C c.(1210-1212)aTt>aCt p.I404T COAD 19 18967089 18967089 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr19:18967089G>A c.1837G>A c.(1837-1839)Gca>Aca p.A613T COAD 19 18968311 18968311 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:18968311C>T c.2184C>T c.(2182-2184)taC>taT p.Y728Y COAD 19 18971771 18971771 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:18971771C>A c.2470C>A c.(2470-2472)Ctg>Atg p.L824M COAD 19 18972856 18972856 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:18972856G>A c.2528G>A c.(2527-2529)cGc>cAc p.R843H COAD 19 18972934 18972934 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr19:18972934G>A c.2606G>A c.(2605-2607)cGt>cAt p.R869H COAD 19 18974259 18974259 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:18974259C>A c.2646C>A c.(2644-2646)atC>atA p.I882I COAD 19 18974986 18974986 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:18974986G>A c.2816G>A c.(2815-2817)cGc>cAc p.R939H COAD 19 18976407 18976407 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:18976407A>G c.3090A>G c.(3088-3090)ggA>ggG p.G1030G COAD 19 18976564 18976564 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:18976564C>A c.3247C>A c.(3247-3249)Ctc>Atc p.L1083I COADREAD 19 18956815 18956815 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr19:18956815C>T c.258C>T c.(256-258)aaC>aaT p.N86N COADREAD 19 18961630 18961630 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:18961630C>T c.763C>T c.(763-765)Cgc>Tgc p.R255C COADREAD 19 18962987 18962987 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr19:18962987T>C c.854T>C c.(853-855)gTg>gCg p.V285A COADREAD 19 18963027 18963027 + Silent SNP C C T TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr19:18963027C>T c.894C>T c.(892-894)gaC>gaT p.D298D COADREAD 19 18965416 18965416 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:18965416G>A c.1196G>A c.(1195-1197)gGc>gAc p.G399D COADREAD 19 18965431 18965431 + Missense_Mutation SNP T T C TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr19:18965431T>C c.1211T>C c.(1210-1212)aTt>aCt p.I404T COADREAD 19 18967089 18967089 + Missense_Mutation SNP G G A TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr19:18967089G>A c.1837G>A c.(1837-1839)Gca>Aca p.A613T COADREAD 19 18968311 18968311 + Silent SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:18968311C>T c.2184C>T c.(2182-2184)taC>taT p.Y728Y COADREAD 19 18971771 18971771 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr19:18971771C>A c.2470C>A c.(2470-2472)Ctg>Atg p.L824M COADREAD 19 18972856 18972856 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:18972856G>A c.2528G>A c.(2527-2529)cGc>cAc p.R843H COADREAD 19 18972934 18972934 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr19:18972934G>A c.2606G>A c.(2605-2607)cGt>cAt p.R869H COADREAD 19 18974253 18974253 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:18974253C>T c.2640C>T c.(2638-2640)ggC>ggT p.G880G COADREAD 19 18974259 18974259 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr19:18974259C>A c.2646C>A c.(2644-2646)atC>atA p.I882I COADREAD 19 18974986 18974986 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr19:18974986G>A c.2816G>A c.(2815-2817)cGc>cAc p.R939H COADREAD 19 18976407 18976407 + Silent SNP A A G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr19:18976407A>G c.3090A>G c.(3088-3090)ggA>ggG p.G1030G COADREAD 19 18976564 18976564 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr19:18976564C>A c.3247C>A c.(3247-3249)Ctc>Atc p.L1083I DLBC 19 18958562 18958562 + Silent SNP A A T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr19:18958562A>T c.381A>T c.(379-381)ggA>ggT p.G127G DLBC 19 18965440 18965440 + Missense_Mutation SNP G G A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr19:18965440G>A c.1220G>A c.(1219-1221)cGg>cAg p.R407Q ESCA 19 18967000 18967000 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr19:18967000C>A c.1748C>A c.(1747-1749)cCt>cAt p.P583H ESCA 19 18968316 18968316 + Missense_Mutation SNP G G A TCGA-JY-A6FE-01A-11D-A33E-09 TCGA-JY-A6FE-10A-01D-A33H-09 g.chr19:18968316G>A c.2189G>A c.(2188-2190)gGc>gAc p.G730D ESCA 19 18971220 18971220 + Missense_Mutation SNP C C T TCGA-V5-AASW-01A-11D-A403-09 TCGA-V5-AASW-10A-01D-A403-09 g.chr19:18971220C>T c.2306C>T c.(2305-2307)gCc>gTc p.A769V ESCA 19 18972827 18972827 + Silent SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr19:18972827G>A c.2499G>A c.(2497-2499)gaG>gaA p.E833E ESCA 19 18972858 18972858 + Missense_Mutation SNP G G A TCGA-IG-A3Y9-01A-12D-A247-09 TCGA-IG-A3Y9-10A-01D-A247-09 g.chr19:18972858G>A c.2530G>A c.(2530-2532)Gag>Aag p.E844K ESCA 19 18972934 18972934 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr19:18972934G>T c.2606G>T c.(2605-2607)cGt>cTt p.R869L GBM 19 18961017 18961017 + Missense_Mutation SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr19:18961017G>A c.595G>A c.(595-597)Gcc>Acc p.A199T GBM 19 18968250 18968250 + Missense_Mutation SNP G G A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 g.chr19:18968250G>A c.2123G>A c.(2122-2124)cGc>cAc p.R708H GBM 19 18976409 18976409 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr19:18976409G>A c.3092G>A c.(3091-3093)cGc>cAc p.R1031H GBMLGG 19 18958595 18958596 + Frame_Shift_Ins INS - - A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr19:18958595_18958596insA c.414_415insA c.(415-417)accfs p.T139fs GBMLGG 19 18960909 18960909 + Missense_Mutation SNP G G A TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr19:18960909G>A c.487G>A c.(487-489)Gca>Aca p.A163T GBMLGG 19 18961017 18961017 + Missense_Mutation SNP G G A TCGA-32-5222-01A-01D-1486-08 TCGA-32-5222-10A-01D-1486-08 g.chr19:18961017G>A c.595G>A c.(595-597)Gcc>Acc p.A199T GBMLGG 19 18963850 18963850 + Missense_Mutation SNP G G A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr19:18963850G>A c.1027G>A c.(1027-1029)Gcc>Acc p.A343T GBMLGG 19 18965817 18965817 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:18965817G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A GBMLGG 19 18966764 18966764 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:18966764C>T c.1608C>T c.(1606-1608)atC>atT p.I536I GBMLGG 19 18968242 18968242 + Silent SNP G G A TCGA-S9-A89V-01A-11D-A36O-08 TCGA-S9-A89V-10A-01D-A367-08 g.chr19:18968242G>A c.2115G>A c.(2113-2115)cgG>cgA p.R705R GBMLGG 19 18968249 18968249 + Missense_Mutation SNP C C T TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr19:18968249C>T c.2122C>T c.(2122-2124)Cgc>Tgc p.R708C GBMLGG 19 18968250 18968250 + Missense_Mutation SNP G G A TCGA-32-1979-01A-01D-1696-08 TCGA-32-1979-10A-01D-1696-08 g.chr19:18968250G>A c.2123G>A c.(2122-2124)cGc>cAc p.R708H GBMLGG 19 18976409 18976409 + Missense_Mutation SNP G G A TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr19:18976409G>A c.3092G>A c.(3091-3093)cGc>cAc p.R1031H HNSC 19 18943117 18943117 + Missense_Mutation SNP C C G TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr19:18943117C>G c.99C>G c.(97-99)ttC>ttG p.F33L HNSC 19 18956861 18956861 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr19:18956861G>A c.304G>A c.(304-306)Gag>Aag p.E102K HNSC 19 18958606 18958606 + Missense_Mutation SNP A A G TCGA-BA-5555-01A-01D-1512-08 TCGA-BA-5555-10A-01D-1512-08 g.chr19:18958606A>G c.425A>G c.(424-426)aAg>aGg p.K142R HNSC 19 18963799 18963799 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr19:18963799C>T c.976C>T c.(976-978)Caa>Taa p.Q326* HNSC 19 18964096 18964096 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr19:18964096C>T c.1126C>T c.(1126-1128)Cgg>Tgg p.R376W HNSC 19 18965503 18965503 + Missense_Mutation SNP C C T TCGA-UF-A7JA-01A-12D-A34J-08 TCGA-UF-A7JA-10A-01D-A34M-08 g.chr19:18965503C>T c.1283C>T c.(1282-1284)tCg>tTg p.S428L HNSC 19 18966828 18966828 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 g.chr19:18966828A>G c.1672A>G c.(1672-1674)Aag>Gag p.K558E HNSC 19 18967057 18967057 + Missense_Mutation SNP A A G TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr19:18967057A>G c.1805A>G c.(1804-1806)gAc>gGc p.D602G HNSC 19 18967087 18967087 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr19:18967087C>T c.1835C>T c.(1834-1836)aCc>aTc p.T612I HNSC 19 18967806 18967806 + Missense_Mutation SNP C C A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr19:18967806C>A c.1978C>A c.(1978-1980)Ccc>Acc p.P660T HNSC 19 18968194 18968194 + Silent SNP C C T TCGA-CN-4725-01A-01D-1434-08 TCGA-CN-4725-10A-01D-1434-08 g.chr19:18968194C>T c.2067C>T c.(2065-2067)gcC>gcT p.A689A HNSC 19 18974385 18974385 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr19:18974385C>G c.2772C>G c.(2770-2772)ttC>ttG p.F924L HNSC 19 18976359 18976379 + Splice_Site DEL CTGTCTTTCAGGGCGAGGCAC CTGTCTTTCAGGGCGAGGCAC - TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr19:18976359_18976379delCTGTCTTTCAGGGCGAGGCAC c.3052_3062delCTGTCTTTCAGGGCGAGGCAC c.(3052-3063)ctgtctttcagg>g p.LSFR1018del HNSC 19 18976383 18976383 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr19:18976383G>A c.3066G>A c.(3064-3066)ccG>ccA p.P1022P KICH 19 18976950 18976950 + Missense_Mutation SNP T T G TCGA-KM-8439-01A-11D-2310-10 TCGA-KM-8439-10A-01D-2311-10 g.chr19:18976950T>G c.3368T>G c.(3367-3369)gTg>gGg p.V1123G KIPAN 19 18960913 18960913 + Missense_Mutation SNP A A G TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr19:18960913A>G c.491A>G c.(490-492)aAa>aGa p.K164R KIPAN 19 18960968 18960968 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr19:18960968G>T c.546G>T c.(544-546)gaG>gaT p.E182D KIPAN 19 18963808 18963808 + Missense_Mutation SNP A A G TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr19:18963808A>G c.985A>G c.(985-987)Atc>Gtc p.I329V KIPAN 19 18964067 18964067 + Missense_Mutation SNP G G A TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr19:18964067G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q KIPAN 19 18974988 18974988 + Missense_Mutation SNP T T C TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr19:18974988T>C c.2818T>C c.(2818-2820)Ttc>Ctc p.F940L KIPAN 19 18976950 18976950 + Missense_Mutation SNP T T G TCGA-KM-8439-01A-11D-2310-10 TCGA-KM-8439-10A-01D-2311-10 g.chr19:18976950T>G c.3368T>G c.(3367-3369)gTg>gGg p.V1123G KIRC 19 18960913 18960913 + Missense_Mutation SNP A A G TCGA-CW-6087-01A-11D-1669-08 TCGA-CW-6087-11A-01D-1669-08 g.chr19:18960913A>G c.491A>G c.(490-492)aAa>aGa p.K164R KIRC 19 18974988 18974988 + Missense_Mutation SNP T T C TCGA-CJ-4882-01A-02D-1429-08 TCGA-CJ-4882-11A-01D-1429-08 g.chr19:18974988T>C c.2818T>C c.(2818-2820)Ttc>Ctc p.F940L KIRP 19 18960968 18960968 + Missense_Mutation SNP G G T TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr19:18960968G>T c.546G>T c.(544-546)gaG>gaT p.E182D KIRP 19 18963808 18963808 + Missense_Mutation SNP A A G TCGA-B9-4116-01A-01D-1252-08 TCGA-B9-4116-10A-01D-1252-08 g.chr19:18963808A>G c.985A>G c.(985-987)Atc>Gtc p.I329V KIRP 19 18964067 18964067 + Missense_Mutation SNP G G A TCGA-UZ-A9PJ-01A-11D-A382-10 TCGA-UZ-A9PJ-10A-01D-A385-10 g.chr19:18964067G>A c.1097G>A c.(1096-1098)cGg>cAg p.R366Q LAML 19 18963815 18963815 + Missense_Mutation SNP T T A TCGA-AB-2814-03D-01W-0755-09 TCGA-AB-2814-11D-01W-0755-09 g.chr19:18963815T>A c.992T>A c.(991-993)gTc>gAc p.V331D LGG 19 18958595 18958596 + Frame_Shift_Ins INS - - A TCGA-KT-A7W1-01A-11D-A34A-08 TCGA-KT-A7W1-10A-01D-A34A-08 g.chr19:18958595_18958596insA c.414_415insA c.(415-417)accfs p.T139fs LGG 19 18960909 18960909 + Missense_Mutation SNP G G A TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr19:18960909G>A c.487G>A c.(487-489)Gca>Aca p.A163T LGG 19 18963850 18963850 + Missense_Mutation SNP G G A TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr19:18963850G>A c.1027G>A c.(1027-1029)Gcc>Acc p.A343T LGG 19 18965817 18965817 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:18965817G>A c.1428G>A c.(1426-1428)gcG>gcA p.A476A LGG 19 18966764 18966764 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:18966764C>T c.1608C>T c.(1606-1608)atC>atT p.I536I LGG 19 18968242 18968242 + Silent SNP G G A TCGA-S9-A89V-01A-11D-A36O-08 TCGA-S9-A89V-10A-01D-A367-08 g.chr19:18968242G>A c.2115G>A c.(2113-2115)cgG>cgA p.R705R LGG 19 18968249 18968249 + Missense_Mutation SNP C C T TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr19:18968249C>T c.2122C>T c.(2122-2124)Cgc>Tgc p.R708C LIHC 19 18961531 18961531 + Missense_Mutation SNP A A T TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr19:18961531A>T c.664A>T c.(664-666)Atc>Ttc p.I222F LIHC 19 18963017 18963017 + Missense_Mutation SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr19:18963017G>T c.884G>T c.(883-885)cGg>cTg p.R295L LIHC 19 18965500 18965500 + Missense_Mutation SNP A A G TCGA-UB-AA0V-01A-11D-A382-10 TCGA-UB-AA0V-10A-01D-A385-10 g.chr19:18965500A>G c.1280A>G c.(1279-1281)aAg>aGg p.K427R LIHC 19 18967008 18967008 + Nonsense_Mutation SNP C C T TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr19:18967008C>T c.1756C>T c.(1756-1758)Cag>Tag p.Q586* LIHC 19 18971165 18971165 + Frame_Shift_Del DEL C C - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr19:18971165delC c.2251delC c.(2251-2253)cccfs p.P751fs LUAD 19 18956882 18956882 + Missense_Mutation SNP G G A TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr19:18956882G>A c.325G>A c.(325-327)Gaa>Aaa p.E109K LUAD 19 18965953 18965953 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr19:18965953G>T c.1479G>T c.(1477-1479)gtG>gtT p.V493V LUAD 19 18967010 18967010 + Silent SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr19:18967010G>A c.1758G>A c.(1756-1758)caG>caA p.Q586Q LUAD 19 18967079 18967079 + Silent SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr19:18967079G>A c.1827G>A c.(1825-1827)ttG>ttA p.L609L LUAD 19 18968170 18968170 + Silent SNP G G C TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr19:18968170G>C c.2043G>C c.(2041-2043)gtG>gtC p.V681V LUAD 19 18971211 18971211 + Missense_Mutation SNP A A T TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chr19:18971211A>T c.2297A>T c.(2296-2298)gAg>gTg p.E766V LUAD 19 18974407 18974407 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr19:18974407A>G c.2794A>G c.(2794-2796)Aac>Gac p.N932D LUAD 19 18975033 18975033 + Missense_Mutation SNP G G T TCGA-97-7547-01A-11D-2036-08 TCGA-97-7547-10A-01D-2036-08 g.chr19:18975033G>T c.2863G>T c.(2863-2865)Ggc>Tgc p.G955C LUSC 19 18960909 18960909 + Missense_Mutation SNP G G A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 g.chr19:18960909G>A c.487G>A c.(487-489)Gca>Aca p.A163T LUSC 19 18961004 18961004 + Silent SNP C C T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr19:18961004C>T c.582C>T c.(580-582)ctC>ctT p.L194L LUSC 19 18964156 18964156 + Missense_Mutation SNP G G C TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr19:18964156G>C c.1186G>C c.(1186-1188)Gat>Cat p.D396H LUSC 19 18965427 18965427 + Missense_Mutation SNP G G A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr19:18965427G>A c.1207G>A c.(1207-1209)Gcc>Acc p.A403T LUSC 19 18971733 18971733 + Missense_Mutation SNP G G A TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr19:18971733G>A c.2432G>A c.(2431-2433)cGc>cAc p.R811H OV 19 18963027 18963027 + Silent SNP C C T TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chr19:18963027C>T c.894C>T c.(892-894)gaC>gaT p.D298D OV 19 18967738 18967738 + Missense_Mutation SNP C C T TCGA-36-2545-01A-01D-1526-09 TCGA-36-2545-10A-01D-1526-09 g.chr19:18967738C>T c.1910C>T c.(1909-1911)gCc>gTc p.A637V PAAD 19 18960909 18960909 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr19:18960909G>A c.487G>A c.(487-489)Gca>Aca p.A163T PAAD 19 18971174 18971174 + Missense_Mutation SNP G G A TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr19:18971174G>A c.2260G>A c.(2260-2262)Gat>Aat p.D754N PRAD 19 18964097 18964097 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:18964097G>A c.1127G>A c.(1126-1128)cGg>cAg p.R376Q PRAD 19 18971713 18971713 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:18971713C>T c.2412C>T c.(2410-2412)atC>atT p.I804I PRAD 19 18976421 18976421 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr19:18976421G>A c.3104G>A c.(3103-3105)cGc>cAc p.R1035H PRAD 19 18976954 18976954 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:18976954G>A c.3372G>A c.(3370-3372)acG>acA p.T1124T READ 19 18974253 18974253 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr19:18974253C>T c.2640C>T c.(2638-2640)ggC>ggT p.G880G SKCM 19 18943028 18943028 + Missense_Mutation SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr19:18943028G>A c.10G>A c.(10-12)Gag>Aag p.E4K SKCM 19 18960947 18960947 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr19:18960947C>T c.525C>T c.(523-525)ccC>ccT p.P175P SKCM 19 18960951 18960951 + Missense_Mutation SNP G G A TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:18960951G>A c.529G>A c.(529-531)Ggg>Agg p.G177R SKCM 19 18960966 18960966 + Nonsense_Mutation SNP G G T TCGA-D3-A2J6-06A-11D-A19A-08 TCGA-D3-A2J6-10A-01D-A19A-08 g.chr19:18960966G>T c.544G>T c.(544-546)Gag>Tag p.E182* SKCM 19 18965518 18965518 + Splice_Site SNP G G A TCGA-ER-A2NG-06A-11D-A196-08 TCGA-ER-A2NG-10A-01D-A198-08 g.chr19:18965518G>A c.1298G>A c.(1297-1299)aGg>aAg p.R433K SKCM 19 18966754 18966754 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:18966754C>T c.1598C>T c.(1597-1599)cCg>cTg p.P533L SKCM 19 18968188 18968188 + Silent SNP C C T TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr19:18968188C>T c.2061C>T c.(2059-2061)gcC>gcT p.A687A SKCM 19 18968229 18968229 + Missense_Mutation SNP T T G TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr19:18968229T>G c.2102T>G c.(2101-2103)gTg>gGg p.V701G SKCM 19 18971135 18971135 + Missense_Mutation SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr19:18971135C>T c.2221C>T c.(2221-2223)Cgt>Tgt p.R741C SKCM 19 18971159 18971159 + Nonsense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr19:18971159C>T c.2245C>T c.(2245-2247)Cag>Tag p.Q749* SKCM 19 18971235 18971235 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr19:18971235C>T c.2321C>T c.(2320-2322)tCc>tTc p.S774F SKCM 19 18971672 18971672 + Silent SNP T T C TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr19:18971672T>C c.2371T>C c.(2371-2373)Ttg>Ctg p.L791L SKCM 19 18975061 18975061 + Splice_Site SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr19:18975061G>A c.e20+1 SKCM 19 18976399 18976399 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr19:18976399C>T c.3082C>T c.(3082-3084)Cgt>Tgt p.R1028C SKCM 19 18976861 18976861 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr19:18976861C>T c.3279C>T c.(3277-3279)taC>taT p.Y1093Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 18960920 18960920 single base substitution A T exon_variant BLCA-CN 19 18960920 18960920 single base substitution A T missense_variant K166N 498A>T BLCA-CN 19 18960920 18960920 single base substitution A T upstream_gene_variant BLCA-CN 19 18968215 18968215 single base substitution C T downstream_gene_variant BLCA-CN 19 18968215 18968215 single base substitution C T synonymous_variant F685F 2055C>T BLCA-CN 19 18968215 18968215 single base substitution C T synonymous_variant F696F 2088C>T BLCA-CN 19 18968215 18968215 single base substitution C T upstream_gene_variant BLCA-CN 19 18974308 18974308 single base substitution C T exon_variant BLCA-CN 19 18974308 18974308 single base substitution C T synonymous_variant L888L 2662C>T BLCA-CN 19 18974308 18974308 single base substitution C T synonymous_variant L899L 2695C>T BLCA-US 19 18943112 18943112 single base substitution G C missense_variant E32Q 94G>C BLCA-US 19 18943112 18943112 single base substitution G C upstream_gene_variant BLCA-US 19 18963840 18963840 single base substitution G A downstream_gene_variant BLCA-US 19 18963840 18963840 single base substitution G A exon_variant BLCA-US 19 18963840 18963840 single base substitution G A synonymous_variant K339K 1017G>A BLCA-US 19 18963840 18963840 single base substitution G A upstream_gene_variant BLCA-US 19 18965463 18965463 single base substitution G A downstream_gene_variant BLCA-US 19 18965463 18965463 single base substitution G A exon_variant BLCA-US 19 18965463 18965463 single base substitution G A missense_variant E404K 1210G>A BLCA-US 19 18965463 18965463 single base substitution G A missense_variant E415K 1243G>A BLCA-US 19 18965463 18965463 single base substitution G A upstream_gene_variant BLCA-US 19 18965703 18965703 single base substitution G A downstream_gene_variant BLCA-US 19 18965703 18965703 single base substitution G A exon_variant BLCA-US 19 18965703 18965703 single base substitution G A synonymous_variant L427L 1281G>A BLCA-US 19 18965703 18965703 single base substitution G A synonymous_variant L438L 1314G>A BLCA-US 19 18965703 18965703 single base substitution G A upstream_gene_variant BLCA-US 19 18968269 18968269 single base substitution G C downstream_gene_variant BLCA-US 19 18968269 18968269 single base substitution G C synonymous_variant R703R 2109G>C BLCA-US 19 18968269 18968269 single base substitution G C synonymous_variant R714R 2142G>C BLCA-US 19 18968269 18968269 single base substitution G C upstream_gene_variant BRCA-EU 19 18938130 18938130 single base substitution A C upstream_gene_variant BRCA-EU 19 18938973 18938973 single base substitution C G upstream_gene_variant BRCA-EU 19 18945077 18945077 single base substitution G A intron_variant BRCA-EU 19 18945243 18945243 single base substitution C G intron_variant BRCA-EU 19 18945509 18945509 single base substitution G A intron_variant BRCA-EU 19 18946814 18946814 single base substitution G C intron_variant BRCA-EU 19 18946884 18946884 single base substitution C G intron_variant BRCA-EU 19 18946891 18946918 deletion of <=200bp CTTGAGATCCTGGGATGAAAAGCGCTGA - intron_variant BRCA-EU 19 18948344 18948344 single base substitution G C intron_variant BRCA-EU 19 18949107 18949107 single base substitution G C intron_variant BRCA-EU 19 18950377 18950377 single base substitution G A intron_variant BRCA-EU 19 18953912 18953912 single base substitution A G intron_variant BRCA-EU 19 18954156 18954156 single base substitution G C intron_variant BRCA-EU 19 18954156 18954156 single base substitution G C upstream_gene_variant BRCA-EU 19 18955050 18955050 single base substitution G A intron_variant BRCA-EU 19 18955050 18955050 single base substitution G A upstream_gene_variant BRCA-EU 19 18956097 18956097 single base substitution T G intron_variant BRCA-EU 19 18956097 18956097 single base substitution T G upstream_gene_variant BRCA-EU 19 18958487 18958487 single base substitution C T intron_variant BRCA-EU 19 18958487 18958487 single base substitution C T upstream_gene_variant BRCA-EU 19 18960091 18960091 single base substitution G A exon_variant BRCA-EU 19 18960091 18960091 single base substitution G A intron_variant BRCA-EU 19 18960091 18960091 single base substitution G A upstream_gene_variant BRCA-EU 19 18960831 18960831 single base substitution G A intron_variant BRCA-EU 19 18960831 18960831 single base substitution G A upstream_gene_variant BRCA-EU 19 18960841 18960841 single base substitution G A intron_variant BRCA-EU 19 18960841 18960841 single base substitution G A upstream_gene_variant BRCA-EU 19 18960976 18960976 single base substitution A G exon_variant BRCA-EU 19 18960976 18960976 single base substitution A G missense_variant N185S 554A>G BRCA-EU 19 18960976 18960976 single base substitution A G upstream_gene_variant BRCA-EU 19 18961477 18961477 single base substitution G A intron_variant BRCA-EU 19 18961477 18961477 single base substitution G A upstream_gene_variant BRCA-EU 19 18961649 18961649 single base substitution A T downstream_gene_variant BRCA-EU 19 18961649 18961649 single base substitution A T exon_variant BRCA-EU 19 18961649 18961649 single base substitution A T missense_variant Q261L 782A>T BRCA-EU 19 18961649 18961649 single base substitution A T upstream_gene_variant BRCA-EU 19 18962112 18962112 single base substitution G A downstream_gene_variant BRCA-EU 19 18962112 18962112 single base substitution G A intron_variant BRCA-EU 19 18962112 18962112 single base substitution G A upstream_gene_variant BRCA-EU 19 18967912 18967912 single base substitution C T downstream_gene_variant BRCA-EU 19 18967912 18967912 single base substitution C T intron_variant BRCA-EU 19 18967912 18967912 single base substitution C T upstream_gene_variant BRCA-EU 19 18968905 18968905 single base substitution C T downstream_gene_variant BRCA-EU 19 18968905 18968905 single base substitution C T intron_variant BRCA-EU 19 18968905 18968905 single base substitution C T upstream_gene_variant BRCA-EU 19 18969360 18969360 single base substitution G C downstream_gene_variant BRCA-EU 19 18969360 18969360 single base substitution G C intron_variant BRCA-EU 19 18969360 18969360 single base substitution G C upstream_gene_variant BRCA-EU 19 18969812 18969812 single base substitution G T downstream_gene_variant BRCA-EU 19 18969812 18969812 single base substitution G T intron_variant BRCA-EU 19 18969812 18969812 single base substitution G T upstream_gene_variant BRCA-EU 19 18971695 18971695 single base substitution G A exon_variant BRCA-EU 19 18971695 18971695 single base substitution G A synonymous_variant P787P 2361G>A BRCA-EU 19 18971695 18971695 single base substitution G A synonymous_variant P798P 2394G>A BRCA-EU 19 18971695 18971695 single base substitution G A upstream_gene_variant BRCA-EU 19 18973164 18973164 single base substitution G A intron_variant BRCA-EU 19 18973164 18973164 single base substitution G A upstream_gene_variant BRCA-EU 19 18973194 18973194 single base substitution A G intron_variant BRCA-EU 19 18973194 18973194 single base substitution A G upstream_gene_variant BRCA-EU 19 18974290 18974290 single base substitution C T exon_variant BRCA-EU 19 18974290 18974290 single base substitution C T stop_gained Q882* 2644C>T BRCA-EU 19 18974290 18974290 single base substitution C T stop_gained Q893* 2677C>T BRCA-EU 19 18976406 18976406 insertion of <=200bp - GAC exon_variant BRCA-EU 19 18976406 18976406 insertion of <=200bp - GAC inframe_insertion G1019GR BRCA-EU 19 18976406 18976406 insertion of <=200bp - GAC inframe_insertion G1030GR BRCA-EU 19 18977409 18977409 single base substitution T C 3_prime_UTR_variant BRCA-EU 19 18977409 18977409 single base substitution T C exon_variant BRCA-EU 19 18977448 18977448 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 18977448 18977448 single base substitution G C exon_variant BRCA-EU 19 18977492 18977492 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 18977492 18977492 single base substitution G A exon_variant BRCA-EU 19 18977592 18977592 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 18977592 18977592 single base substitution C T exon_variant BRCA-EU 19 18977861 18977861 single base substitution T A 3_prime_UTR_variant BRCA-EU 19 18977861 18977861 single base substitution T A exon_variant BRCA-EU 19 18979245 18979245 single base substitution G A downstream_gene_variant BRCA-EU 19 18979424 18979424 single base substitution G A downstream_gene_variant BRCA-EU 19 18980823 18980823 single base substitution G A downstream_gene_variant BRCA-EU 19 18982227 18982227 single base substitution C T downstream_gene_variant BRCA-EU 19 18982371 18982371 single base substitution A G downstream_gene_variant BRCA-EU 19 18983218 18983218 single base substitution G A downstream_gene_variant BRCA-EU 19 18983441 18983441 single base substitution C T downstream_gene_variant BRCA-EU 19 18983509 18983509 single base substitution G C downstream_gene_variant BRCA-EU 19 18983930 18983930 single base substitution G C downstream_gene_variant BRCA-FR 19 18937912 18937912 single base substitution C T upstream_gene_variant BRCA-FR 19 18955624 18955624 single base substitution C T intron_variant BRCA-FR 19 18955624 18955624 single base substitution C T upstream_gene_variant BRCA-FR 19 18959907 18959907 single base substitution C T exon_variant BRCA-FR 19 18959907 18959907 single base substitution C T intron_variant BRCA-FR 19 18959907 18959907 single base substitution C T upstream_gene_variant BRCA-FR 19 18975182 18975182 single base substitution C T intron_variant BRCA-FR 19 18977592 18977592 single base substitution C T 3_prime_UTR_variant BRCA-FR 19 18977592 18977592 single base substitution C T exon_variant BRCA-FR 19 18979424 18979424 single base substitution G A downstream_gene_variant BRCA-KR 19 18971123 18971123 single base substitution C G downstream_gene_variant BRCA-KR 19 18971123 18971123 single base substitution C G exon_variant BRCA-KR 19 18971123 18971123 single base substitution C G splice_region_variant BRCA-KR 19 18971123 18971123 single base substitution C G upstream_gene_variant BRCA-UK 19 18940805 18940805 single base substitution C T upstream_gene_variant BRCA-UK 19 18942504 18942504 single base substitution C G upstream_gene_variant BRCA-UK 19 18958487 18958487 single base substitution C T intron_variant BRCA-UK 19 18958487 18958487 single base substitution C T upstream_gene_variant BRCA-UK 19 18983930 18983930 single base substitution G C downstream_gene_variant BRCA-US 19 18960956 18960956 single base substitution G A exon_variant BRCA-US 19 18960956 18960956 single base substitution G A synonymous_variant E178E 534G>A BRCA-US 19 18960956 18960956 single base substitution G A upstream_gene_variant BRCA-US 19 18965708 18965708 single base substitution C T downstream_gene_variant BRCA-US 19 18965708 18965708 single base substitution C T exon_variant BRCA-US 19 18965708 18965708 single base substitution C T missense_variant T429M 1286C>T BRCA-US 19 18965708 18965708 single base substitution C T missense_variant T440M 1319C>T BRCA-US 19 18965708 18965708 single base substitution C T upstream_gene_variant BRCA-US 19 18966900 18966900 deletion of <=200bp T - downstream_gene_variant BRCA-US 19 18966900 18966900 deletion of <=200bp T - splice_donor_variant BRCA-US 19 18966900 18966900 deletion of <=200bp T - upstream_gene_variant BRCA-US 19 18967087 18967087 single base substitution C A downstream_gene_variant BRCA-US 19 18967087 18967087 single base substitution C A missense_variant T601N 1802C>A BRCA-US 19 18967087 18967087 single base substitution C A missense_variant T612N 1835C>A BRCA-US 19 18967087 18967087 single base substitution C A upstream_gene_variant BTCA-JP 19 18965743 18965743 single base substitution A G downstream_gene_variant BTCA-JP 19 18965743 18965743 single base substitution A G exon_variant BTCA-JP 19 18965743 18965743 single base substitution A G missense_variant I441V 1321A>G BTCA-JP 19 18965743 18965743 single base substitution A G missense_variant I452V 1354A>G BTCA-JP 19 18965743 18965743 single base substitution A G upstream_gene_variant BTCA-JP 19 18966937 18966939 deletion of <=200bp CTT - downstream_gene_variant BTCA-JP 19 18966937 18966939 deletion of <=200bp CTT - intron_variant BTCA-JP 19 18966937 18966939 deletion of <=200bp CTT - upstream_gene_variant BTCA-JP 19 18968215 18968215 single base substitution C T downstream_gene_variant BTCA-JP 19 18968215 18968215 single base substitution C T synonymous_variant F685F 2055C>T BTCA-JP 19 18968215 18968215 single base substitution C T synonymous_variant F696F 2088C>T BTCA-JP 19 18968215 18968215 single base substitution C T upstream_gene_variant BTCA-JP 19 18974234 18974234 single base substitution G A exon_variant BTCA-JP 19 18974234 18974234 single base substitution G A intron_variant BTCA-JP 19 18980825 18980825 single base substitution C T downstream_gene_variant CESC-US 19 18966783 18966783 single base substitution G A downstream_gene_variant CESC-US 19 18966783 18966783 single base substitution G A missense_variant E532K 1594G>A CESC-US 19 18966783 18966783 single base substitution G A missense_variant E543K 1627G>A CESC-US 19 18966783 18966783 single base substitution G A upstream_gene_variant CESC-US 19 18967005 18967005 single base substitution C T downstream_gene_variant CESC-US 19 18967005 18967005 single base substitution C T synonymous_variant L574L 1720C>T CESC-US 19 18967005 18967005 single base substitution C T synonymous_variant L585L 1753C>T CESC-US 19 18967005 18967005 single base substitution C T upstream_gene_variant CESC-US 19 18968252 18968252 single base substitution C T downstream_gene_variant CESC-US 19 18968252 18968252 single base substitution C T synonymous_variant L698L 2092C>T CESC-US 19 18968252 18968252 single base substitution C T synonymous_variant L709L 2125C>T CESC-US 19 18968252 18968252 single base substitution C T upstream_gene_variant CESC-US 19 18974274 18974274 single base substitution G A exon_variant CESC-US 19 18974274 18974274 single base substitution G A synonymous_variant P876P 2628G>A CESC-US 19 18974274 18974274 single base substitution G A synonymous_variant P887P 2661G>A CESC-US 19 18976135 18976135 single base substitution G C exon_variant CESC-US 19 18976135 18976135 single base substitution G C missense_variant Q965H 2895G>C CESC-US 19 18976135 18976135 single base substitution G C missense_variant Q976H 2928G>C CESC-US 19 18976551 18976551 single base substitution G A exon_variant CESC-US 19 18976551 18976551 single base substitution G A missense_variant M1067I 3201G>A CESC-US 19 18976551 18976551 single base substitution G A missense_variant M1078I 3234G>A CLLE-ES 19 18954336 18954336 single base substitution T G intron_variant CLLE-ES 19 18954336 18954336 single base substitution T G upstream_gene_variant COAD-US 19 18943156 18943156 single base substitution G A synonymous_variant T46T 138G>A COAD-US 19 18943156 18943156 single base substitution G A upstream_gene_variant COAD-US 19 18956815 18956815 single base substitution C T exon_variant COAD-US 19 18956815 18956815 single base substitution C T synonymous_variant N86N 258C>T COAD-US 19 18956815 18956815 single base substitution C T upstream_gene_variant COAD-US 19 18958623 18958623 single base substitution C T exon_variant COAD-US 19 18958623 18958623 single base substitution C T missense_variant R148C 442C>T COAD-US 19 18958623 18958623 single base substitution C T upstream_gene_variant COAD-US 19 18961630 18961630 single base substitution C T downstream_gene_variant COAD-US 19 18961630 18961630 single base substitution C T exon_variant COAD-US 19 18961630 18961630 single base substitution C T missense_variant R255C 763C>T COAD-US 19 18961630 18961630 single base substitution C T upstream_gene_variant COAD-US 19 18965431 18965431 single base substitution T C downstream_gene_variant COAD-US 19 18965431 18965431 single base substitution T C exon_variant COAD-US 19 18965431 18965431 single base substitution T C missense_variant I393T 1178T>C COAD-US 19 18965431 18965431 single base substitution T C missense_variant I404T 1211T>C COAD-US 19 18965431 18965431 single base substitution T C upstream_gene_variant COAD-US 19 18967089 18967089 single base substitution G A downstream_gene_variant COAD-US 19 18967089 18967089 single base substitution G A missense_variant A602T 1804G>A COAD-US 19 18967089 18967089 single base substitution G A missense_variant A613T 1837G>A COAD-US 19 18967089 18967089 single base substitution G A upstream_gene_variant COAD-US 19 18971771 18971771 single base substitution C A exon_variant COAD-US 19 18971771 18971771 single base substitution C A missense_variant L813M 2437C>A COAD-US 19 18971771 18971771 single base substitution C A missense_variant L824M 2470C>A COAD-US 19 18971771 18971771 single base substitution C A upstream_gene_variant COAD-US 19 18972934 18972934 single base substitution G A exon_variant COAD-US 19 18972934 18972934 single base substitution G A missense_variant R858H 2573G>A COAD-US 19 18972934 18972934 single base substitution G A missense_variant R869H 2606G>A COAD-US 19 18972934 18972934 single base substitution G A upstream_gene_variant COAD-US 19 18974986 18974986 single base substitution G A exon_variant COAD-US 19 18974986 18974986 single base substitution G A missense_variant R928H 2783G>A COAD-US 19 18974986 18974986 single base substitution G A missense_variant R939H 2816G>A COAD-US 19 18976484 18976484 single base substitution C T exon_variant COAD-US 19 18976484 18976484 single base substitution C T missense_variant A1045V 3134C>T COAD-US 19 18976484 18976484 single base substitution C T missense_variant A1056V 3167C>T COAD-US 19 18976564 18976564 single base substitution C A exon_variant COAD-US 19 18976564 18976564 single base substitution C A missense_variant L1072I 3214C>A COAD-US 19 18976564 18976564 single base substitution C A missense_variant L1083I 3247C>A COAD-US 19 18979513 18979513 single base substitution C T downstream_gene_variant COCA-CN 19 18960988 18960988 single base substitution G A exon_variant COCA-CN 19 18960988 18960988 single base substitution G A missense_variant R189H 566G>A COCA-CN 19 18960988 18960988 single base substitution G A upstream_gene_variant COCA-CN 19 18961557 18961557 single base substitution G A downstream_gene_variant COCA-CN 19 18961557 18961557 single base substitution G A exon_variant COCA-CN 19 18961557 18961557 single base substitution G A synonymous_variant Q230Q 690G>A COCA-CN 19 18961557 18961557 single base substitution G A upstream_gene_variant COCA-CN 19 18961772 18961772 single base substitution C T downstream_gene_variant COCA-CN 19 18961772 18961772 single base substitution C T intron_variant COCA-CN 19 18961772 18961772 single base substitution C T upstream_gene_variant COCA-CN 19 18963225 18963225 single base substitution A G downstream_gene_variant COCA-CN 19 18963225 18963225 single base substitution A G intron_variant COCA-CN 19 18963225 18963225 single base substitution A G upstream_gene_variant COCA-CN 19 18965950 18965951 deletion of <=200bp TG - downstream_gene_variant COCA-CN 19 18965950 18965951 deletion of <=200bp TG - exon_variant COCA-CN 19 18965950 18965951 deletion of <=200bp TG - frameshift_variant TV481 COCA-CN 19 18965950 18965951 deletion of <=200bp TG - frameshift_variant TV492 COCA-CN 19 18965950 18965951 deletion of <=200bp TG - upstream_gene_variant COCA-CN 19 18968143 18968143 single base substitution C T downstream_gene_variant COCA-CN 19 18968143 18968143 single base substitution C T synonymous_variant G661G 1983C>T COCA-CN 19 18968143 18968143 single base substitution C T synonymous_variant G672G 2016C>T COCA-CN 19 18968143 18968143 single base substitution C T upstream_gene_variant COCA-CN 19 18975068 18975068 single base substitution G A splice_region_variant COCA-CN 19 18976372 18976372 single base substitution C T exon_variant COCA-CN 19 18976372 18976372 single base substitution C T splice_region_variant COCA-CN 19 18976372 18976372 single base substitution C T stop_gained R1008* 3022C>T COCA-CN 19 18976372 18976372 single base substitution C T stop_gained R1019* 3055C>T COCA-CN 19 18976400 18976400 single base substitution G A exon_variant COCA-CN 19 18976400 18976400 single base substitution G A missense_variant R1017H 3050G>A COCA-CN 19 18976400 18976400 single base substitution G A missense_variant R1028H 3083G>A COCA-CN 19 18980926 18980926 single base substitution C T downstream_gene_variant EOPC-DE 19 18953737 18953737 single base substitution G C intron_variant EOPC-DE 19 18966301 18966301 single base substitution G A downstream_gene_variant EOPC-DE 19 18966301 18966301 single base substitution G A exon_variant EOPC-DE 19 18966301 18966301 single base substitution G A intron_variant EOPC-DE 19 18966301 18966301 single base substitution G A upstream_gene_variant EOPC-DE 19 18977783 18977783 single base substitution G A 3_prime_UTR_variant EOPC-DE 19 18977783 18977783 single base substitution G A exon_variant ESAD-UK 19 18938202 18938202 single base substitution G A upstream_gene_variant ESAD-UK 19 18938746 18938746 single base substitution C T upstream_gene_variant ESAD-UK 19 18940230 18940230 single base substitution G A upstream_gene_variant ESAD-UK 19 18942213 18942213 single base substitution G T upstream_gene_variant ESAD-UK 19 18945279 18945279 single base substitution T G intron_variant ESAD-UK 19 18946182 18946182 single base substitution G A intron_variant ESAD-UK 19 18949191 18949191 single base substitution C T intron_variant ESAD-UK 19 18950923 18950923 single base substitution G A intron_variant ESAD-UK 19 18951791 18951791 single base substitution C T intron_variant ESAD-UK 19 18952130 18952130 single base substitution C T intron_variant ESAD-UK 19 18954559 18954559 insertion of <=200bp - T intron_variant ESAD-UK 19 18954559 18954559 insertion of <=200bp - T upstream_gene_variant ESAD-UK 19 18955719 18955719 single base substitution T C intron_variant ESAD-UK 19 18955719 18955719 single base substitution T C upstream_gene_variant ESAD-UK 19 18959537 18959537 single base substitution T C intron_variant ESAD-UK 19 18959537 18959537 single base substitution T C upstream_gene_variant ESAD-UK 19 18959820 18959820 single base substitution C T exon_variant ESAD-UK 19 18959820 18959820 single base substitution C T intron_variant ESAD-UK 19 18959820 18959820 single base substitution C T upstream_gene_variant ESAD-UK 19 18961728 18961728 single base substitution G A downstream_gene_variant ESAD-UK 19 18961728 18961728 single base substitution G A intron_variant ESAD-UK 19 18961728 18961728 single base substitution G A upstream_gene_variant ESAD-UK 19 18965541 18965541 single base substitution C T downstream_gene_variant ESAD-UK 19 18965541 18965541 single base substitution C T intron_variant ESAD-UK 19 18965541 18965541 single base substitution C T upstream_gene_variant ESAD-UK 19 18967809 18967809 single base substitution G A downstream_gene_variant ESAD-UK 19 18967809 18967809 single base substitution G A missense_variant V650M 1948G>A ESAD-UK 19 18967809 18967809 single base substitution G A missense_variant V661M 1981G>A ESAD-UK 19 18967809 18967809 single base substitution G A upstream_gene_variant ESAD-UK 19 18970335 18970335 single base substitution G A downstream_gene_variant ESAD-UK 19 18970335 18970335 single base substitution G A exon_variant ESAD-UK 19 18970335 18970335 single base substitution G A intron_variant ESAD-UK 19 18970335 18970335 single base substitution G A upstream_gene_variant ESAD-UK 19 18972197 18972197 single base substitution G A intron_variant ESAD-UK 19 18972197 18972197 single base substitution G A upstream_gene_variant ESAD-UK 19 18976363 18976363 single base substitution C T exon_variant ESAD-UK 19 18976363 18976363 single base substitution C T splice_region_variant ESAD-UK 19 18978394 18978394 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 18978394 18978394 single base substitution C T exon_variant ESAD-UK 19 18978583 18978583 single base substitution G A 3_prime_UTR_variant ESAD-UK 19 18978583 18978583 single base substitution G A exon_variant ESAD-UK 19 18981373 18981373 single base substitution G A downstream_gene_variant ESAD-UK 19 18981566 18981566 single base substitution C T downstream_gene_variant ESAD-UK 19 18981891 18981891 single base substitution T G downstream_gene_variant ESAD-UK 19 18983003 18983003 single base substitution C G downstream_gene_variant ESCA-CN 19 18976126 18976126 single base substitution C G exon_variant ESCA-CN 19 18976126 18976126 single base substitution C G synonymous_variant T962T 2886C>G ESCA-CN 19 18976126 18976126 single base substitution C G synonymous_variant T973T 2919C>G GBM-US 19 18961017 18961017 single base substitution G A exon_variant GBM-US 19 18961017 18961017 single base substitution G A missense_variant A199T 595G>A GBM-US 19 18961017 18961017 single base substitution G A upstream_gene_variant GBM-US 19 18968250 18968250 single base substitution G A downstream_gene_variant GBM-US 19 18968250 18968250 single base substitution G A missense_variant R697H 2090G>A GBM-US 19 18968250 18968250 single base substitution G A missense_variant R708H 2123G>A GBM-US 19 18968250 18968250 single base substitution G A upstream_gene_variant GBM-US 19 18976409 18976409 single base substitution G A exon_variant GBM-US 19 18976409 18976409 single base substitution G A missense_variant R1020H 3059G>A GBM-US 19 18976409 18976409 single base substitution G A missense_variant R1031H 3092G>A KIRC-US 19 18960913 18960913 single base substitution A G exon_variant KIRC-US 19 18960913 18960913 single base substitution A G missense_variant K164R 491A>G KIRC-US 19 18960913 18960913 single base substitution A G upstream_gene_variant KIRC-US 19 18974988 18974988 single base substitution T C exon_variant KIRC-US 19 18974988 18974988 single base substitution T C missense_variant F929L 2785T>C KIRC-US 19 18974988 18974988 single base substitution T C missense_variant F940L 2818T>C LAML-KR 19 18967890 18967890 single base substitution C A downstream_gene_variant LAML-KR 19 18967890 18967890 single base substitution C A intron_variant LAML-KR 19 18967890 18967890 single base substitution C A upstream_gene_variant LAML-KR 19 18976575 18976575 single base substitution G A exon_variant LAML-KR 19 18976575 18976575 single base substitution G A synonymous_variant P1075P 3225G>A LAML-KR 19 18976575 18976575 single base substitution G A synonymous_variant P1086P 3258G>A LGG-US 19 18968249 18968249 single base substitution C T downstream_gene_variant LGG-US 19 18968249 18968249 single base substitution C T missense_variant R697C 2089C>T LGG-US 19 18968249 18968249 single base substitution C T missense_variant R708C 2122C>T LGG-US 19 18968249 18968249 single base substitution C T upstream_gene_variant LICA-CN 19 18967684 18967684 single base substitution A G downstream_gene_variant LICA-CN 19 18967684 18967684 single base substitution A G splice_acceptor_variant LICA-CN 19 18967684 18967684 single base substitution A G upstream_gene_variant LICA-FR 19 18940081 18940081 insertion of <=200bp - ATAT upstream_gene_variant LICA-FR 19 18940680 18940680 single base substitution T G upstream_gene_variant LICA-FR 19 18975014 18975014 single base substitution C G exon_variant LICA-FR 19 18975014 18975014 single base substitution C G synonymous_variant A937A 2811C>G LICA-FR 19 18975014 18975014 single base substitution C G synonymous_variant A948A 2844C>G LICA-FR 19 18976201 18976201 single base substitution G A exon_variant LICA-FR 19 18976201 18976201 single base substitution G A synonymous_variant L987L 2961G>A LICA-FR 19 18976201 18976201 single base substitution G A synonymous_variant L998L 2994G>A LIHC-US 19 18963017 18963017 single base substitution G T downstream_gene_variant LIHC-US 19 18963017 18963017 single base substitution G T exon_variant LIHC-US 19 18963017 18963017 single base substitution G T missense_variant R295L 884G>T LIHC-US 19 18963017 18963017 single base substitution G T upstream_gene_variant LIHC-US 19 18967008 18967008 single base substitution C T downstream_gene_variant LIHC-US 19 18967008 18967008 single base substitution C T stop_gained Q575* 1723C>T LIHC-US 19 18967008 18967008 single base substitution C T stop_gained Q586* 1756C>T LIHC-US 19 18967008 18967008 single base substitution C T upstream_gene_variant LINC-JP 19 18940129 18940129 insertion of <=200bp - TA upstream_gene_variant LINC-JP 19 18940141 18940141 single base substitution C T upstream_gene_variant LINC-JP 19 18943723 18943723 single base substitution C A intron_variant LINC-JP 19 18943723 18943723 single base substitution C A upstream_gene_variant LINC-JP 19 18945689 18945689 single base substitution A G intron_variant LINC-JP 19 18965204 18965204 single base substitution A G downstream_gene_variant LINC-JP 19 18965204 18965204 single base substitution A G intron_variant LINC-JP 19 18965204 18965204 single base substitution A G upstream_gene_variant LINC-JP 19 18965985 18965985 single base substitution C T downstream_gene_variant LINC-JP 19 18965985 18965985 single base substitution C T exon_variant LINC-JP 19 18965985 18965985 single base substitution C T missense_variant P493L 1478C>T LINC-JP 19 18965985 18965985 single base substitution C T missense_variant P504L 1511C>T LINC-JP 19 18965985 18965985 single base substitution C T upstream_gene_variant LINC-JP 19 18972781 18972781 single base substitution G T intron_variant LINC-JP 19 18972781 18972781 single base substitution G T upstream_gene_variant LINC-JP 19 18976145 18976145 single base substitution A C exon_variant LINC-JP 19 18976145 18976145 single base substitution A C missense_variant I969L 2905A>C LINC-JP 19 18976145 18976145 single base substitution A C missense_variant I980L 2938A>C LIRI-JP 19 18939261 18939261 single base substitution G T upstream_gene_variant LIRI-JP 19 18940911 18940911 single base substitution A T upstream_gene_variant LIRI-JP 19 18944364 18944364 single base substitution G T intron_variant LIRI-JP 19 18944746 18944746 single base substitution A G intron_variant LIRI-JP 19 18945055 18945055 single base substitution T G intron_variant LIRI-JP 19 18946192 18946192 single base substitution C G intron_variant LIRI-JP 19 18946941 18946941 single base substitution A G intron_variant LIRI-JP 19 18947071 18947071 single base substitution T C intron_variant LIRI-JP 19 18947554 18947554 single base substitution A C intron_variant LIRI-JP 19 18949318 18949318 single base substitution A G intron_variant LIRI-JP 19 18951773 18951773 single base substitution C T intron_variant LIRI-JP 19 18958133 18958133 single base substitution G C intron_variant LIRI-JP 19 18958133 18958133 single base substitution G C upstream_gene_variant LIRI-JP 19 18961625 18961625 single base substitution G T downstream_gene_variant LIRI-JP 19 18961625 18961625 single base substitution G T exon_variant LIRI-JP 19 18961625 18961625 single base substitution G T missense_variant R253L 758G>T LIRI-JP 19 18961625 18961625 single base substitution G T upstream_gene_variant LIRI-JP 19 18961862 18961862 single base substitution G T downstream_gene_variant LIRI-JP 19 18961862 18961862 single base substitution G T exon_variant LIRI-JP 19 18961862 18961862 single base substitution G T intron_variant LIRI-JP 19 18961862 18961862 single base substitution G T upstream_gene_variant LIRI-JP 19 18964193 18964193 single base substitution G A downstream_gene_variant LIRI-JP 19 18964193 18964193 single base substitution G A intron_variant LIRI-JP 19 18964193 18964193 single base substitution G A upstream_gene_variant LIRI-JP 19 18966449 18966449 single base substitution A T downstream_gene_variant LIRI-JP 19 18966449 18966449 single base substitution A T exon_variant LIRI-JP 19 18966449 18966449 single base substitution A T intron_variant LIRI-JP 19 18966449 18966449 single base substitution A T upstream_gene_variant LIRI-JP 19 18966484 18966484 single base substitution C T downstream_gene_variant LIRI-JP 19 18966484 18966484 single base substitution C T exon_variant LIRI-JP 19 18966484 18966484 single base substitution C T intron_variant LIRI-JP 19 18966484 18966484 single base substitution C T upstream_gene_variant LIRI-JP 19 18967196 18967196 single base substitution G T downstream_gene_variant LIRI-JP 19 18967196 18967196 single base substitution G T intron_variant LIRI-JP 19 18967196 18967196 single base substitution G T upstream_gene_variant LIRI-JP 19 18972681 18972681 single base substitution C G intron_variant LIRI-JP 19 18972681 18972681 single base substitution C G upstream_gene_variant LIRI-JP 19 18974574 18974574 single base substitution C T intron_variant LIRI-JP 19 18975001 18975001 single base substitution C T exon_variant LIRI-JP 19 18975001 18975001 single base substitution C T missense_variant A933V 2798C>T LIRI-JP 19 18975001 18975001 single base substitution C T missense_variant A944V 2831C>T LIRI-JP 19 18978730 18978730 single base substitution T C 3_prime_UTR_variant LIRI-JP 19 18978730 18978730 single base substitution T C exon_variant LIRI-JP 19 18983108 18983108 single base substitution G T downstream_gene_variant LIRI-JP 19 18983738 18983738 single base substitution C T downstream_gene_variant LUSC-KR 19 18937935 18937935 single base substitution C A upstream_gene_variant LUSC-KR 19 18939106 18939106 single base substitution G A upstream_gene_variant LUSC-KR 19 18943208 18943208 single base substitution G T missense_variant G64C 190G>T LUSC-KR 19 18943208 18943208 single base substitution G T upstream_gene_variant LUSC-KR 19 18945136 18945136 single base substitution A T intron_variant LUSC-KR 19 18955118 18955118 single base substitution T G intron_variant LUSC-KR 19 18955118 18955118 single base substitution T G upstream_gene_variant LUSC-KR 19 18955314 18955314 single base substitution G T intron_variant LUSC-KR 19 18955314 18955314 single base substitution G T upstream_gene_variant LUSC-KR 19 18955653 18955653 single base substitution T C intron_variant LUSC-KR 19 18955653 18955653 single base substitution T C upstream_gene_variant LUSC-KR 19 18961859 18961859 single base substitution G T downstream_gene_variant LUSC-KR 19 18961859 18961859 single base substitution G T intron_variant LUSC-KR 19 18961859 18961859 single base substitution G T splice_region_variant LUSC-KR 19 18961859 18961859 single base substitution G T upstream_gene_variant LUSC-KR 19 18962820 18962820 single base substitution C T downstream_gene_variant LUSC-KR 19 18962820 18962820 single base substitution C T intron_variant LUSC-KR 19 18962820 18962820 single base substitution C T upstream_gene_variant LUSC-KR 19 18970024 18970024 single base substitution C T downstream_gene_variant LUSC-KR 19 18970024 18970024 single base substitution C T intron_variant LUSC-KR 19 18970024 18970024 single base substitution C T upstream_gene_variant LUSC-KR 19 18974200 18974200 single base substitution A G exon_variant LUSC-KR 19 18974200 18974200 single base substitution A G intron_variant LUSC-KR 19 18975049 18975049 single base substitution G T exon_variant LUSC-KR 19 18975049 18975049 single base substitution G T missense_variant R949L 2846G>T LUSC-KR 19 18975049 18975049 single base substitution G T missense_variant R960L 2879G>T LUSC-KR 19 18982947 18982947 single base substitution T A downstream_gene_variant LUSC-US 19 18960909 18960909 single base substitution G A exon_variant LUSC-US 19 18960909 18960909 single base substitution G A missense_variant A163T 487G>A LUSC-US 19 18960909 18960909 single base substitution G A upstream_gene_variant LUSC-US 19 18961004 18961004 single base substitution C T exon_variant LUSC-US 19 18961004 18961004 single base substitution C T synonymous_variant L194L 582C>T LUSC-US 19 18961004 18961004 single base substitution C T upstream_gene_variant LUSC-US 19 18964156 18964156 single base substitution G C downstream_gene_variant LUSC-US 19 18964156 18964156 single base substitution G C exon_variant LUSC-US 19 18964156 18964156 single base substitution G C missense_variant D385H 1153G>C LUSC-US 19 18964156 18964156 single base substitution G C missense_variant D396H 1186G>C LUSC-US 19 18964156 18964156 single base substitution G C upstream_gene_variant LUSC-US 19 18965427 18965427 single base substitution G A downstream_gene_variant LUSC-US 19 18965427 18965427 single base substitution G A exon_variant LUSC-US 19 18965427 18965427 single base substitution G A missense_variant A392T 1174G>A LUSC-US 19 18965427 18965427 single base substitution G A missense_variant A403T 1207G>A LUSC-US 19 18965427 18965427 single base substitution G A upstream_gene_variant LUSC-US 19 18971733 18971733 single base substitution G A exon_variant LUSC-US 19 18971733 18971733 single base substitution G A missense_variant R800H 2399G>A LUSC-US 19 18971733 18971733 single base substitution G A missense_variant R811H 2432G>A LUSC-US 19 18971733 18971733 single base substitution G A upstream_gene_variant MALY-DE 19 18941673 18941673 single base substitution G A upstream_gene_variant MALY-DE 19 18953190 18953190 single base substitution C T intron_variant MALY-DE 19 18953426 18953426 single base substitution G A intron_variant MALY-DE 19 18955272 18955272 single base substitution A G intron_variant MALY-DE 19 18955272 18955272 single base substitution A G upstream_gene_variant MALY-DE 19 18955319 18955319 single base substitution T A intron_variant MALY-DE 19 18955319 18955319 single base substitution T A upstream_gene_variant MALY-DE 19 18959006 18959006 single base substitution T C exon_variant MALY-DE 19 18959006 18959006 single base substitution T C intron_variant MALY-DE 19 18959006 18959006 single base substitution T C upstream_gene_variant MALY-DE 19 18961291 18961291 single base substitution A C intron_variant MALY-DE 19 18961291 18961291 single base substitution A C upstream_gene_variant MALY-DE 19 18964586 18964586 single base substitution A G downstream_gene_variant MALY-DE 19 18964586 18964586 single base substitution A G intron_variant MALY-DE 19 18964586 18964586 single base substitution A G upstream_gene_variant MALY-DE 19 18974336 18974336 single base substitution T A exon_variant MALY-DE 19 18974336 18974336 single base substitution T A missense_variant V897E 2690T>A MALY-DE 19 18974336 18974336 single base substitution T A missense_variant V908E 2723T>A MALY-DE 19 18975898 18975898 single base substitution T C intron_variant MALY-DE 19 18978387 18978387 single base substitution T G 3_prime_UTR_variant MALY-DE 19 18978387 18978387 single base substitution T G exon_variant MALY-DE 19 18978675 18978675 single base substitution T C 3_prime_UTR_variant MALY-DE 19 18978675 18978675 single base substitution T C exon_variant MELA-AU 19 18937828 18937828 single base substitution G A upstream_gene_variant MELA-AU 19 18937829 18937829 single base substitution G A upstream_gene_variant MELA-AU 19 18937846 18937846 single base substitution G A upstream_gene_variant MELA-AU 19 18938311 18938311 single base substitution C T upstream_gene_variant MELA-AU 19 18938469 18938469 single base substitution G A upstream_gene_variant MELA-AU 19 18938507 18938507 single base substitution T A upstream_gene_variant MELA-AU 19 18938522 18938522 single base substitution C T upstream_gene_variant MELA-AU 19 18938652 18938652 single base substitution G A upstream_gene_variant MELA-AU 19 18939482 18939482 single base substitution T C upstream_gene_variant MELA-AU 19 18939546 18939546 single base substitution C T upstream_gene_variant MELA-AU 19 18939813 18939813 single base substitution G A upstream_gene_variant MELA-AU 19 18939898 18939898 single base substitution G A upstream_gene_variant MELA-AU 19 18940626 18940626 single base substitution G A upstream_gene_variant MELA-AU 19 18940869 18940869 single base substitution G A upstream_gene_variant MELA-AU 19 18940921 18940921 single base substitution C T upstream_gene_variant MELA-AU 19 18941151 18941151 single base substitution T C upstream_gene_variant MELA-AU 19 18941329 18941329 single base substitution G A upstream_gene_variant MELA-AU 19 18941848 18941848 single base substitution C T upstream_gene_variant MELA-AU 19 18942042 18942042 single base substitution C T upstream_gene_variant MELA-AU 19 18942678 18942678 single base substitution C T upstream_gene_variant MELA-AU 19 18943495 18943495 single base substitution C T intron_variant MELA-AU 19 18943495 18943495 single base substitution C T upstream_gene_variant MELA-AU 19 18945467 18945467 single base substitution C T intron_variant MELA-AU 19 18945498 18945498 single base substitution G A intron_variant MELA-AU 19 18945909 18945909 single base substitution C T intron_variant MELA-AU 19 18947687 18947687 single base substitution C T intron_variant MELA-AU 19 18947717 18947717 single base substitution C T intron_variant MELA-AU 19 18947831 18947831 single base substitution G A intron_variant MELA-AU 19 18948512 18948512 single base substitution A T intron_variant MELA-AU 19 18949062 18949062 single base substitution C T intron_variant MELA-AU 19 18949207 18949207 single base substitution C T intron_variant MELA-AU 19 18949244 18949244 single base substitution G A intron_variant MELA-AU 19 18950026 18950026 single base substitution G T intron_variant MELA-AU 19 18950055 18950055 single base substitution C T intron_variant MELA-AU 19 18951718 18951718 single base substitution G T intron_variant MELA-AU 19 18952129 18952129 single base substitution C T intron_variant MELA-AU 19 18952658 18952658 single base substitution C G intron_variant MELA-AU 19 18952874 18952874 single base substitution C T intron_variant MELA-AU 19 18954293 18954293 single base substitution G T intron_variant MELA-AU 19 18954293 18954293 single base substitution G T upstream_gene_variant MELA-AU 19 18954295 18954296 multiple base substitution (>=2bp and <=200bp) TT GG intron_variant MELA-AU 19 18954295 18954296 multiple base substitution (>=2bp and <=200bp) TT GG upstream_gene_variant MELA-AU 19 18955841 18955841 single base substitution C T intron_variant MELA-AU 19 18955841 18955841 single base substitution C T upstream_gene_variant MELA-AU 19 18956479 18956479 single base substitution C T intron_variant MELA-AU 19 18956479 18956479 single base substitution C T upstream_gene_variant MELA-AU 19 18957133 18957133 single base substitution G A intron_variant MELA-AU 19 18957133 18957133 single base substitution G A upstream_gene_variant MELA-AU 19 18957148 18957148 single base substitution C T intron_variant MELA-AU 19 18957148 18957148 single base substitution C T upstream_gene_variant MELA-AU 19 18957169 18957169 single base substitution C T intron_variant MELA-AU 19 18957169 18957169 single base substitution C T upstream_gene_variant MELA-AU 19 18957855 18957855 single base substitution C T intron_variant MELA-AU 19 18957855 18957855 single base substitution C T upstream_gene_variant MELA-AU 19 18957873 18957873 single base substitution C T intron_variant MELA-AU 19 18957873 18957873 single base substitution C T upstream_gene_variant MELA-AU 19 18958464 18958464 single base substitution T G intron_variant MELA-AU 19 18958464 18958464 single base substitution T G upstream_gene_variant MELA-AU 19 18958467 18958467 single base substitution T G intron_variant MELA-AU 19 18958467 18958467 single base substitution T G upstream_gene_variant MELA-AU 19 18958736 18958736 single base substitution A T intron_variant MELA-AU 19 18958736 18958736 single base substitution A T upstream_gene_variant MELA-AU 19 18958960 18958960 single base substitution C T exon_variant MELA-AU 19 18958960 18958960 single base substitution C T intron_variant MELA-AU 19 18958960 18958960 single base substitution C T upstream_gene_variant MELA-AU 19 18959344 18959344 single base substitution G A intron_variant MELA-AU 19 18959344 18959344 single base substitution G A upstream_gene_variant MELA-AU 19 18960479 18960479 single base substitution C T intron_variant MELA-AU 19 18960479 18960479 single base substitution C T upstream_gene_variant MELA-AU 19 18960519 18960519 single base substitution G A intron_variant MELA-AU 19 18960519 18960519 single base substitution G A upstream_gene_variant MELA-AU 19 18960977 18960977 single base substitution C T exon_variant MELA-AU 19 18960977 18960977 single base substitution C T synonymous_variant N185N 555C>T MELA-AU 19 18960977 18960977 single base substitution C T upstream_gene_variant MELA-AU 19 18961148 18961148 single base substitution C T intron_variant MELA-AU 19 18961148 18961148 single base substitution C T upstream_gene_variant MELA-AU 19 18961491 18961491 single base substitution C T intron_variant MELA-AU 19 18961491 18961491 single base substitution C T splice_region_variant MELA-AU 19 18961491 18961491 single base substitution C T upstream_gene_variant MELA-AU 19 18961677 18961677 single base substitution G A downstream_gene_variant MELA-AU 19 18961677 18961677 single base substitution G A splice_region_variant MELA-AU 19 18961677 18961677 single base substitution G A upstream_gene_variant MELA-AU 19 18962156 18962156 single base substitution C T downstream_gene_variant MELA-AU 19 18962156 18962156 single base substitution C T intron_variant MELA-AU 19 18962156 18962156 single base substitution C T upstream_gene_variant MELA-AU 19 18962620 18962620 single base substitution C T downstream_gene_variant MELA-AU 19 18962620 18962620 single base substitution C T intron_variant MELA-AU 19 18962620 18962620 single base substitution C T upstream_gene_variant MELA-AU 19 18962622 18962622 single base substitution C G downstream_gene_variant MELA-AU 19 18962622 18962622 single base substitution C G intron_variant MELA-AU 19 18962622 18962622 single base substitution C G upstream_gene_variant MELA-AU 19 18963447 18963447 single base substitution C T downstream_gene_variant MELA-AU 19 18963447 18963447 single base substitution C T intron_variant MELA-AU 19 18963447 18963447 single base substitution C T upstream_gene_variant MELA-AU 19 18963785 18963785 single base substitution C T downstream_gene_variant MELA-AU 19 18963785 18963785 single base substitution C T intron_variant MELA-AU 19 18963785 18963785 single base substitution C T upstream_gene_variant MELA-AU 19 18964688 18964688 single base substitution C T downstream_gene_variant MELA-AU 19 18964688 18964688 single base substitution C T intron_variant MELA-AU 19 18964688 18964688 single base substitution C T upstream_gene_variant MELA-AU 19 18964951 18964951 single base substitution A G downstream_gene_variant MELA-AU 19 18964951 18964951 single base substitution A G intron_variant MELA-AU 19 18964951 18964951 single base substitution A G upstream_gene_variant MELA-AU 19 18965109 18965109 single base substitution C T downstream_gene_variant MELA-AU 19 18965109 18965109 single base substitution C T intron_variant MELA-AU 19 18965109 18965109 single base substitution C T upstream_gene_variant MELA-AU 19 18965127 18965127 single base substitution C T downstream_gene_variant MELA-AU 19 18965127 18965127 single base substitution C T intron_variant MELA-AU 19 18965127 18965127 single base substitution C T upstream_gene_variant MELA-AU 19 18965586 18965586 single base substitution C T downstream_gene_variant MELA-AU 19 18965586 18965586 single base substitution C T intron_variant MELA-AU 19 18965586 18965586 single base substitution C T upstream_gene_variant MELA-AU 19 18966349 18966349 single base substitution C T downstream_gene_variant MELA-AU 19 18966349 18966349 single base substitution C T exon_variant MELA-AU 19 18966349 18966349 single base substitution C T intron_variant MELA-AU 19 18966349 18966349 single base substitution C T upstream_gene_variant MELA-AU 19 18966917 18966917 single base substitution C T downstream_gene_variant MELA-AU 19 18966917 18966917 single base substitution C T intron_variant MELA-AU 19 18966917 18966917 single base substitution C T upstream_gene_variant MELA-AU 19 18967290 18967290 single base substitution C T downstream_gene_variant MELA-AU 19 18967290 18967290 single base substitution C T intron_variant MELA-AU 19 18967290 18967290 single base substitution C T upstream_gene_variant MELA-AU 19 18967677 18967677 single base substitution C T downstream_gene_variant MELA-AU 19 18967677 18967677 single base substitution C T intron_variant MELA-AU 19 18967677 18967677 single base substitution C T upstream_gene_variant MELA-AU 19 18967912 18967912 single base substitution C T downstream_gene_variant MELA-AU 19 18967912 18967912 single base substitution C T intron_variant MELA-AU 19 18967912 18967912 single base substitution C T upstream_gene_variant MELA-AU 19 18968091 18968091 single base substitution C T downstream_gene_variant MELA-AU 19 18968091 18968091 single base substitution C T intron_variant MELA-AU 19 18968091 18968091 single base substitution C T upstream_gene_variant MELA-AU 19 18968289 18968289 single base substitution C T downstream_gene_variant MELA-AU 19 18968289 18968289 single base substitution C T missense_variant A710V 2129C>T MELA-AU 19 18968289 18968289 single base substitution C T missense_variant A721V 2162C>T MELA-AU 19 18968289 18968289 single base substitution C T upstream_gene_variant MELA-AU 19 18969041 18969041 single base substitution C T downstream_gene_variant MELA-AU 19 18969041 18969041 single base substitution C T intron_variant MELA-AU 19 18969041 18969041 single base substitution C T upstream_gene_variant MELA-AU 19 18969225 18969225 single base substitution T A downstream_gene_variant MELA-AU 19 18969225 18969225 single base substitution T A intron_variant MELA-AU 19 18969225 18969225 single base substitution T A upstream_gene_variant MELA-AU 19 18969265 18969265 single base substitution C T downstream_gene_variant MELA-AU 19 18969265 18969265 single base substitution C T intron_variant MELA-AU 19 18969265 18969265 single base substitution C T upstream_gene_variant MELA-AU 19 18969422 18969422 single base substitution C T downstream_gene_variant MELA-AU 19 18969422 18969422 single base substitution C T intron_variant MELA-AU 19 18969422 18969422 single base substitution C T upstream_gene_variant MELA-AU 19 18969823 18969823 single base substitution C T downstream_gene_variant MELA-AU 19 18969823 18969823 single base substitution C T intron_variant MELA-AU 19 18969823 18969823 single base substitution C T upstream_gene_variant MELA-AU 19 18969833 18969833 single base substitution G A downstream_gene_variant MELA-AU 19 18969833 18969833 single base substitution G A intron_variant MELA-AU 19 18969833 18969833 single base substitution G A upstream_gene_variant MELA-AU 19 18969851 18969851 single base substitution C T downstream_gene_variant MELA-AU 19 18969851 18969851 single base substitution C T intron_variant MELA-AU 19 18969851 18969851 single base substitution C T upstream_gene_variant MELA-AU 19 18970435 18970435 single base substitution C T downstream_gene_variant MELA-AU 19 18970435 18970435 single base substitution C T exon_variant MELA-AU 19 18970435 18970435 single base substitution C T intron_variant MELA-AU 19 18970435 18970435 single base substitution C T upstream_gene_variant MELA-AU 19 18971116 18971116 single base substitution C T downstream_gene_variant MELA-AU 19 18971116 18971116 single base substitution C T exon_variant MELA-AU 19 18971116 18971116 single base substitution C T intron_variant MELA-AU 19 18971116 18971116 single base substitution C T upstream_gene_variant MELA-AU 19 18971135 18971135 single base substitution C T downstream_gene_variant MELA-AU 19 18971135 18971135 single base substitution C T exon_variant MELA-AU 19 18971135 18971135 single base substitution C T missense_variant R730C 2188C>T MELA-AU 19 18971135 18971135 single base substitution C T missense_variant R741C 2221C>T MELA-AU 19 18971135 18971135 single base substitution C T upstream_gene_variant MELA-AU 19 18971361 18971361 single base substitution C A downstream_gene_variant MELA-AU 19 18971361 18971361 single base substitution C A intron_variant MELA-AU 19 18971361 18971361 single base substitution C A upstream_gene_variant MELA-AU 19 18971482 18971482 single base substitution C T downstream_gene_variant MELA-AU 19 18971482 18971482 single base substitution C T intron_variant MELA-AU 19 18971482 18971482 single base substitution C T upstream_gene_variant MELA-AU 19 18973254 18973254 single base substitution C T intron_variant MELA-AU 19 18973254 18973254 single base substitution C T upstream_gene_variant MELA-AU 19 18973427 18973427 single base substitution C T intron_variant MELA-AU 19 18973427 18973427 single base substitution C T upstream_gene_variant MELA-AU 19 18973691 18973692 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 19 18973691 18973692 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 18973963 18973963 single base substitution C T exon_variant MELA-AU 19 18973963 18973963 single base substitution C T intron_variant MELA-AU 19 18974298 18974298 single base substitution C T exon_variant MELA-AU 19 18974298 18974298 single base substitution C T synonymous_variant L884L 2652C>T MELA-AU 19 18974298 18974298 single base substitution C T synonymous_variant L895L 2685C>T MELA-AU 19 18974821 18974821 single base substitution C T intron_variant MELA-AU 19 18974933 18974933 single base substitution C T intron_variant MELA-AU 19 18975211 18975211 single base substitution C G intron_variant MELA-AU 19 18975216 18975216 single base substitution C T intron_variant MELA-AU 19 18975842 18975842 single base substitution C T intron_variant MELA-AU 19 18976304 18976304 single base substitution C T exon_variant MELA-AU 19 18976304 18976304 single base substitution C T intron_variant MELA-AU 19 18976681 18976682 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 18976835 18976835 single base substitution C T intron_variant MELA-AU 19 18977325 18977325 single base substitution G A intron_variant MELA-AU 19 18977647 18977647 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18977647 18977647 single base substitution C T exon_variant MELA-AU 19 18978037 18978038 multiple base substitution (>=2bp and <=200bp) CC AT 3_prime_UTR_variant MELA-AU 19 18978037 18978038 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 19 18978191 18978191 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18978191 18978191 single base substitution C T exon_variant MELA-AU 19 18978683 18978683 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18978683 18978683 single base substitution C T exon_variant MELA-AU 19 18979805 18979805 single base substitution G A downstream_gene_variant MELA-AU 19 18980055 18980055 insertion of <=200bp - GCC downstream_gene_variant MELA-AU 19 18980659 18980659 single base substitution C T downstream_gene_variant MELA-AU 19 18980823 18980824 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 18981214 18981214 single base substitution C T downstream_gene_variant MELA-AU 19 18982719 18982719 single base substitution G A downstream_gene_variant MELA-AU 19 18983468 18983468 single base substitution G A downstream_gene_variant MELA-AU 19 18983487 18983487 single base substitution G A downstream_gene_variant MELA-AU 19 18983890 18983890 single base substitution G A downstream_gene_variant ORCA-IN 19 18938286 18938286 single base substitution C G upstream_gene_variant ORCA-IN 19 18938505 18938505 single base substitution C G upstream_gene_variant ORCA-IN 19 18942504 18942504 single base substitution C G upstream_gene_variant ORCA-IN 19 18963052 18963052 single base substitution G A downstream_gene_variant ORCA-IN 19 18963052 18963052 single base substitution G A exon_variant ORCA-IN 19 18963052 18963052 single base substitution G A missense_variant G307R 919G>A ORCA-IN 19 18963052 18963052 single base substitution G A upstream_gene_variant ORCA-IN 19 18965819 18965819 single base substitution A G downstream_gene_variant ORCA-IN 19 18965819 18965819 single base substitution A G exon_variant ORCA-IN 19 18965819 18965819 single base substitution A G missense_variant Q466R 1397A>G ORCA-IN 19 18965819 18965819 single base substitution A G missense_variant Q477R 1430A>G ORCA-IN 19 18965819 18965819 single base substitution A G upstream_gene_variant ORCA-IN 19 18976392 18976392 single base substitution G A exon_variant ORCA-IN 19 18976392 18976392 single base substitution G A synonymous_variant K1014K 3042G>A ORCA-IN 19 18976392 18976392 single base substitution G A synonymous_variant K1025K 3075G>A ORCA-IN 19 18976948 18976948 single base substitution G T exon_variant ORCA-IN 19 18976948 18976948 single base substitution G T synonymous_variant G1111G 3333G>T ORCA-IN 19 18976948 18976948 single base substitution G T synonymous_variant G1122G 3366G>T OV-AU 19 18941954 18941954 single base substitution C A upstream_gene_variant OV-AU 19 18942080 18942080 single base substitution A G upstream_gene_variant OV-AU 19 18947349 18947349 single base substitution A G intron_variant OV-AU 19 18948996 18948996 single base substitution C A intron_variant OV-AU 19 18955007 18955007 single base substitution C A intron_variant OV-AU 19 18955007 18955007 single base substitution C A upstream_gene_variant OV-AU 19 18959855 18959855 single base substitution G A exon_variant OV-AU 19 18959855 18959855 single base substitution G A intron_variant OV-AU 19 18959855 18959855 single base substitution G A upstream_gene_variant OV-AU 19 18972385 18972385 single base substitution G T intron_variant OV-AU 19 18972385 18972385 single base substitution G T upstream_gene_variant OV-AU 19 18976268 18976268 single base substitution C T exon_variant OV-AU 19 18976268 18976268 single base substitution C T intron_variant OV-AU 19 18980922 18980922 single base substitution C G downstream_gene_variant OV-US 19 18963027 18963027 single base substitution C T downstream_gene_variant OV-US 19 18963027 18963027 single base substitution C T exon_variant OV-US 19 18963027 18963027 single base substitution C T synonymous_variant D298D 894C>T OV-US 19 18963027 18963027 single base substitution C T upstream_gene_variant PACA-AU 19 18938826 18938826 single base substitution T C upstream_gene_variant PACA-AU 19 18939020 18939020 single base substitution T A upstream_gene_variant PACA-AU 19 18940708 18940708 single base substitution C A upstream_gene_variant PACA-AU 19 18941384 18941384 single base substitution C G upstream_gene_variant PACA-AU 19 18942144 18942144 single base substitution G A upstream_gene_variant PACA-AU 19 18949313 18949313 single base substitution T A intron_variant PACA-AU 19 18954424 18954432 deletion of <=200bp TTCAAGCGA - intron_variant PACA-AU 19 18954424 18954432 deletion of <=200bp TTCAAGCGA - upstream_gene_variant PACA-AU 19 18954907 18954907 single base substitution G T intron_variant PACA-AU 19 18954907 18954907 single base substitution G T upstream_gene_variant PACA-AU 19 18957446 18957446 single base substitution G T intron_variant PACA-AU 19 18957446 18957446 single base substitution G T upstream_gene_variant PACA-AU 19 18963939 18963953 deletion of <=200bp TGACCATAAGTAGCA - downstream_gene_variant PACA-AU 19 18963939 18963953 deletion of <=200bp TGACCATAAGTAGCA - intron_variant PACA-AU 19 18963939 18963953 deletion of <=200bp TGACCATAAGTAGCA - upstream_gene_variant PACA-AU 19 18965607 18965607 single base substitution C A downstream_gene_variant PACA-AU 19 18965607 18965607 single base substitution C A intron_variant PACA-AU 19 18965607 18965607 single base substitution C A upstream_gene_variant PACA-AU 19 18966829 18966829 single base substitution A T downstream_gene_variant PACA-AU 19 18966829 18966829 single base substitution A T missense_variant K547M 1640A>T PACA-AU 19 18966829 18966829 single base substitution A T missense_variant K558M 1673A>T PACA-AU 19 18966829 18966829 single base substitution A T upstream_gene_variant PACA-AU 19 18968215 18968215 single base substitution C T downstream_gene_variant PACA-AU 19 18968215 18968215 single base substitution C T synonymous_variant F685F 2055C>T PACA-AU 19 18968215 18968215 single base substitution C T synonymous_variant F696F 2088C>T PACA-AU 19 18968215 18968215 single base substitution C T upstream_gene_variant PACA-AU 19 18973940 18973940 single base substitution C T exon_variant PACA-AU 19 18973940 18973940 single base substitution C T intron_variant PACA-AU 19 18975809 18975809 single base substitution G T intron_variant PACA-AU 19 18978954 18978954 single base substitution G A 3_prime_UTR_variant PACA-AU 19 18978954 18978954 single base substitution G A exon_variant PACA-CA 19 18944722 18944722 single base substitution C T intron_variant PACA-CA 19 18945956 18945956 single base substitution T C intron_variant PACA-CA 19 18947287 18947287 single base substitution A T intron_variant PACA-CA 19 18948629 18948629 single base substitution A G intron_variant PACA-CA 19 18950913 18950913 single base substitution C T intron_variant PACA-CA 19 18952879 18952879 single base substitution C T intron_variant PACA-CA 19 18953519 18953519 insertion of <=200bp - GG intron_variant PACA-CA 19 18953745 18953745 single base substitution G A intron_variant PACA-CA 19 18954360 18954360 single base substitution C T intron_variant PACA-CA 19 18954360 18954360 single base substitution C T upstream_gene_variant PACA-CA 19 18954458 18954458 single base substitution C T intron_variant PACA-CA 19 18954458 18954458 single base substitution C T upstream_gene_variant PACA-CA 19 18965774 18965774 single base substitution A C downstream_gene_variant PACA-CA 19 18965774 18965774 single base substitution A C exon_variant PACA-CA 19 18965774 18965774 single base substitution A C missense_variant E451A 1352A>C PACA-CA 19 18965774 18965774 single base substitution A C missense_variant E462A 1385A>C PACA-CA 19 18965774 18965774 single base substitution A C upstream_gene_variant PACA-CA 19 18966846 18966846 single base substitution G A downstream_gene_variant PACA-CA 19 18966846 18966846 single base substitution G A missense_variant D553N 1657G>A PACA-CA 19 18966846 18966846 single base substitution G A missense_variant D564N 1690G>A PACA-CA 19 18966846 18966846 single base substitution G A upstream_gene_variant PACA-CA 19 18968473 18968483 deletion of <=200bp CACTTTGTGCC - downstream_gene_variant PACA-CA 19 18968473 18968483 deletion of <=200bp CACTTTGTGCC - intron_variant PACA-CA 19 18968473 18968483 deletion of <=200bp CACTTTGTGCC - upstream_gene_variant PACA-CA 19 18969537 18969537 single base substitution G C downstream_gene_variant PACA-CA 19 18969537 18969537 single base substitution G C intron_variant PACA-CA 19 18969537 18969537 single base substitution G C upstream_gene_variant PACA-CA 19 18970280 18970280 single base substitution A G downstream_gene_variant PACA-CA 19 18970280 18970280 single base substitution A G exon_variant PACA-CA 19 18970280 18970280 single base substitution A G intron_variant PACA-CA 19 18970280 18970280 single base substitution A G upstream_gene_variant PACA-CA 19 18970589 18970589 single base substitution C G downstream_gene_variant PACA-CA 19 18970589 18970589 single base substitution C G exon_variant PACA-CA 19 18970589 18970589 single base substitution C G intron_variant PACA-CA 19 18970589 18970589 single base substitution C G upstream_gene_variant PACA-CA 19 18973498 18973498 single base substitution G A intron_variant PACA-CA 19 18973498 18973498 single base substitution G A upstream_gene_variant PACA-CA 19 18977006 18977006 single base substitution C A intron_variant PACA-CA 19 18979562 18979562 single base substitution G T downstream_gene_variant PACA-CA 19 18983432 18983432 single base substitution C A downstream_gene_variant PAEN-IT 19 18944115 18944115 single base substitution A G intron_variant PAEN-IT 19 18947372 18947372 single base substitution C T intron_variant PBCA-DE 19 18945719 18945719 single base substitution C A intron_variant PBCA-DE 19 18950740 18950740 single base substitution C T intron_variant PBCA-DE 19 18965852 18965852 single base substitution G A downstream_gene_variant PBCA-DE 19 18965852 18965852 single base substitution G A exon_variant PBCA-DE 19 18965852 18965852 single base substitution G A intron_variant PBCA-DE 19 18965852 18965852 single base substitution G A splice_region_variant PBCA-DE 19 18965852 18965852 single base substitution G A upstream_gene_variant PBCA-DE 19 18979838 18979838 insertion of <=200bp - GC downstream_gene_variant PRAD-CA 19 18944127 18944127 single base substitution T A intron_variant PRAD-CA 19 18958117 18958117 single base substitution T G intron_variant PRAD-CA 19 18958117 18958117 single base substitution T G upstream_gene_variant PRAD-CA 19 18974295 18974295 single base substitution G A exon_variant PRAD-CA 19 18974295 18974295 single base substitution G A synonymous_variant P883P 2649G>A PRAD-CA 19 18974295 18974295 single base substitution G A synonymous_variant P894P 2682G>A PRAD-UK 19 18940602 18940602 single base substitution G T upstream_gene_variant PRAD-UK 19 18943881 18943881 single base substitution C T intron_variant PRAD-UK 19 18943881 18943881 single base substitution C T upstream_gene_variant PRAD-UK 19 18963458 18963458 single base substitution T G downstream_gene_variant PRAD-UK 19 18963458 18963458 single base substitution T G intron_variant PRAD-UK 19 18963458 18963458 single base substitution T G upstream_gene_variant PRAD-UK 19 18973432 18973432 single base substitution G T intron_variant PRAD-UK 19 18973432 18973432 single base substitution G T upstream_gene_variant PRAD-US 19 18976421 18976421 single base substitution G A exon_variant PRAD-US 19 18976421 18976421 single base substitution G A missense_variant R1024H 3071G>A PRAD-US 19 18976421 18976421 single base substitution G A missense_variant R1035H 3104G>A READ-US 19 18967770 18967770 single base substitution G A downstream_gene_variant READ-US 19 18967770 18967770 single base substitution G A missense_variant E637K 1909G>A READ-US 19 18967770 18967770 single base substitution G A missense_variant E648K 1942G>A READ-US 19 18967770 18967770 single base substitution G A upstream_gene_variant READ-US 19 18980810 18980810 single base substitution G A downstream_gene_variant RECA-EU 19 18958313 18958313 single base substitution C T intron_variant RECA-EU 19 18958313 18958313 single base substitution C T upstream_gene_variant RECA-EU 19 18961209 18961209 single base substitution G T intron_variant RECA-EU 19 18961209 18961209 single base substitution G T upstream_gene_variant RECA-EU 19 18967345 18967345 single base substitution A G downstream_gene_variant RECA-EU 19 18967345 18967345 single base substitution A G intron_variant RECA-EU 19 18967345 18967345 single base substitution A G upstream_gene_variant RECA-EU 19 18976089 18976089 single base substitution G A intron_variant SKCA-BR 19 18940428 18940432 deletion of <=200bp GTATA - upstream_gene_variant SKCA-BR 19 18940430 18940430 insertion of <=200bp - ATG upstream_gene_variant SKCA-BR 19 18940436 18940436 single base substitution A G upstream_gene_variant SKCA-BR 19 18940921 18940921 single base substitution C T upstream_gene_variant SKCA-BR 19 18941892 18941892 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 19 18942086 18942086 single base substitution T G upstream_gene_variant SKCA-BR 19 18942134 18942134 single base substitution A C upstream_gene_variant SKCA-BR 19 18942650 18942650 single base substitution T C upstream_gene_variant SKCA-BR 19 18946393 18946393 single base substitution C T intron_variant SKCA-BR 19 18953409 18953409 single base substitution G C intron_variant SKCA-BR 19 18955349 18955349 single base substitution C G intron_variant SKCA-BR 19 18955349 18955349 single base substitution C G upstream_gene_variant SKCA-BR 19 18956310 18956310 single base substitution C T intron_variant SKCA-BR 19 18956310 18956310 single base substitution C T upstream_gene_variant SKCA-BR 19 18956565 18956565 single base substitution T G intron_variant SKCA-BR 19 18956565 18956565 single base substitution T G upstream_gene_variant SKCA-BR 19 18956585 18956585 single base substitution A G intron_variant SKCA-BR 19 18956585 18956585 single base substitution A G upstream_gene_variant SKCA-BR 19 18965550 18965550 single base substitution C T downstream_gene_variant SKCA-BR 19 18965550 18965550 single base substitution C T intron_variant SKCA-BR 19 18965550 18965550 single base substitution C T upstream_gene_variant SKCA-BR 19 18966190 18966190 single base substitution C T downstream_gene_variant SKCA-BR 19 18966190 18966190 single base substitution C T exon_variant SKCA-BR 19 18966190 18966190 single base substitution C T intron_variant SKCA-BR 19 18966190 18966190 single base substitution C T upstream_gene_variant SKCA-BR 19 18968338 18968338 single base substitution T G downstream_gene_variant SKCA-BR 19 18968338 18968338 single base substitution T G synonymous_variant T726T 2178T>G SKCA-BR 19 18968338 18968338 single base substitution T G synonymous_variant T737T 2211T>G SKCA-BR 19 18968338 18968338 single base substitution T G upstream_gene_variant SKCA-BR 19 18968772 18968772 single base substitution C T downstream_gene_variant SKCA-BR 19 18968772 18968772 single base substitution C T intron_variant SKCA-BR 19 18968772 18968772 single base substitution C T upstream_gene_variant SKCA-BR 19 18971117 18971117 single base substitution C T downstream_gene_variant SKCA-BR 19 18971117 18971117 single base substitution C T exon_variant SKCA-BR 19 18971117 18971117 single base substitution C T intron_variant SKCA-BR 19 18971117 18971117 single base substitution C T upstream_gene_variant SKCA-BR 19 18972235 18972235 single base substitution T G intron_variant SKCA-BR 19 18972235 18972235 single base substitution T G upstream_gene_variant SKCA-BR 19 18976950 18976950 single base substitution T G exon_variant SKCA-BR 19 18976950 18976950 single base substitution T G missense_variant V1112G 3335T>G SKCA-BR 19 18976950 18976950 single base substitution T G missense_variant V1123G 3368T>G SKCA-BR 19 18977226 18977226 single base substitution C T intron_variant SKCA-BR 19 18977227 18977227 single base substitution G T intron_variant SKCA-BR 19 18979995 18979995 single base substitution T G downstream_gene_variant SKCA-BR 19 18983508 18983508 insertion of <=200bp - ATATTTAG downstream_gene_variant SKCA-BR 19 18983509 18983509 single base substitution G T downstream_gene_variant SKCA-BR 19 18983511 18983511 single base substitution G T downstream_gene_variant SKCA-BR 19 18983514 18983514 single base substitution G T downstream_gene_variant SKCA-BR 19 18983515 18983515 single base substitution C T downstream_gene_variant SKCA-BR 19 18983516 18983516 single base substitution G A downstream_gene_variant SKCA-BR 19 18983518 18983518 insertion of <=200bp - TATA downstream_gene_variant SKCM-US 19 18943028 18943028 single base substitution G A missense_variant E4K 10G>A SKCM-US 19 18943028 18943028 single base substitution G A upstream_gene_variant SKCM-US 19 18943081 18943081 single base substitution C T synonymous_variant A21A 63C>T SKCM-US 19 18943081 18943081 single base substitution C T upstream_gene_variant SKCM-US 19 18960947 18960947 single base substitution C T exon_variant SKCM-US 19 18960947 18960947 single base substitution C T synonymous_variant P175P 525C>T SKCM-US 19 18960947 18960947 single base substitution C T upstream_gene_variant SKCM-US 19 18960951 18960951 single base substitution G A exon_variant SKCM-US 19 18960951 18960951 single base substitution G A missense_variant G177R 529G>A SKCM-US 19 18960951 18960951 single base substitution G A upstream_gene_variant SKCM-US 19 18960966 18960966 single base substitution G T exon_variant SKCM-US 19 18960966 18960966 single base substitution G T stop_gained E182* 544G>T SKCM-US 19 18960966 18960966 single base substitution G T upstream_gene_variant SKCM-US 19 18965518 18965518 single base substitution G A downstream_gene_variant SKCM-US 19 18965518 18965518 single base substitution G A missense_variant R422K 1265G>A SKCM-US 19 18965518 18965518 single base substitution G A missense_variant R433K 1298G>A SKCM-US 19 18965518 18965518 single base substitution G A splice_region_variant SKCM-US 19 18965518 18965518 single base substitution G A upstream_gene_variant SKCM-US 19 18966754 18966754 single base substitution C T downstream_gene_variant SKCM-US 19 18966754 18966754 single base substitution C T missense_variant P522L 1565C>T SKCM-US 19 18966754 18966754 single base substitution C T missense_variant P533L 1598C>T SKCM-US 19 18966754 18966754 single base substitution C T upstream_gene_variant SKCM-US 19 18968188 18968188 single base substitution C T downstream_gene_variant SKCM-US 19 18968188 18968188 single base substitution C T synonymous_variant A676A 2028C>T SKCM-US 19 18968188 18968188 single base substitution C T synonymous_variant A687A 2061C>T SKCM-US 19 18968188 18968188 single base substitution C T upstream_gene_variant SKCM-US 19 18968229 18968229 single base substitution T G downstream_gene_variant SKCM-US 19 18968229 18968229 single base substitution T G missense_variant V690G 2069T>G SKCM-US 19 18968229 18968229 single base substitution T G missense_variant V701G 2102T>G SKCM-US 19 18968229 18968229 single base substitution T G upstream_gene_variant SKCM-US 19 18971135 18971135 single base substitution C T downstream_gene_variant SKCM-US 19 18971135 18971135 single base substitution C T exon_variant SKCM-US 19 18971135 18971135 single base substitution C T missense_variant R730C 2188C>T SKCM-US 19 18971135 18971135 single base substitution C T missense_variant R741C 2221C>T SKCM-US 19 18971135 18971135 single base substitution C T upstream_gene_variant SKCM-US 19 18971159 18971159 single base substitution C T downstream_gene_variant SKCM-US 19 18971159 18971159 single base substitution C T exon_variant SKCM-US 19 18971159 18971159 single base substitution C T stop_gained Q738* 2212C>T SKCM-US 19 18971159 18971159 single base substitution C T stop_gained Q749* 2245C>T SKCM-US 19 18971159 18971159 single base substitution C T upstream_gene_variant SKCM-US 19 18971235 18971235 single base substitution C T downstream_gene_variant SKCM-US 19 18971235 18971235 single base substitution C T exon_variant SKCM-US 19 18971235 18971235 single base substitution C T missense_variant S763F 2288C>T SKCM-US 19 18971235 18971235 single base substitution C T missense_variant S774F 2321C>T SKCM-US 19 18971235 18971235 single base substitution C T upstream_gene_variant SKCM-US 19 18971672 18971672 single base substitution T C exon_variant SKCM-US 19 18971672 18971672 single base substitution T C synonymous_variant L780L 2338T>C SKCM-US 19 18971672 18971672 single base substitution T C synonymous_variant L791L 2371T>C SKCM-US 19 18971672 18971672 single base substitution T C upstream_gene_variant SKCM-US 19 18971692 18971692 single base substitution G A exon_variant SKCM-US 19 18971692 18971692 single base substitution G A synonymous_variant K786K 2358G>A SKCM-US 19 18971692 18971692 single base substitution G A synonymous_variant K797K 2391G>A SKCM-US 19 18971692 18971692 single base substitution G A upstream_gene_variant SKCM-US 19 18975061 18975061 single base substitution G A splice_donor_variant SKCM-US 19 18976152 18976152 single base substitution C T exon_variant SKCM-US 19 18976152 18976152 single base substitution C T missense_variant A971V 2912C>T SKCM-US 19 18976152 18976152 single base substitution C T missense_variant A982V 2945C>T SKCM-US 19 18976399 18976399 single base substitution C T exon_variant SKCM-US 19 18976399 18976399 single base substitution C T missense_variant R1017C 3049C>T SKCM-US 19 18976399 18976399 single base substitution C T missense_variant R1028C 3082C>T SKCM-US 19 18976861 18976861 single base substitution C T exon_variant SKCM-US 19 18976861 18976861 single base substitution C T synonymous_variant Y1082Y 3246C>T SKCM-US 19 18976861 18976861 single base substitution C T synonymous_variant Y1093Y 3279C>T STAD-US 19 18956872 18956872 single base substitution C G exon_variant STAD-US 19 18956872 18956872 single base substitution C G missense_variant F105L 315C>G STAD-US 19 18956872 18956872 single base substitution C G upstream_gene_variant STAD-US 19 18956893 18956893 single base substitution C A exon_variant STAD-US 19 18956893 18956893 single base substitution C A synonymous_variant T112T 336C>A STAD-US 19 18956893 18956893 single base substitution C A upstream_gene_variant STAD-US 19 18963058 18963058 single base substitution C G downstream_gene_variant STAD-US 19 18963058 18963058 single base substitution C G exon_variant STAD-US 19 18963058 18963058 single base substitution C G missense_variant L309V 925C>G STAD-US 19 18963058 18963058 single base substitution C G upstream_gene_variant STAD-US 19 18964115 18964115 single base substitution C T downstream_gene_variant STAD-US 19 18964115 18964115 single base substitution C T exon_variant STAD-US 19 18964115 18964115 single base substitution C T missense_variant A371V 1112C>T STAD-US 19 18964115 18964115 single base substitution C T missense_variant A382V 1145C>T STAD-US 19 18964115 18964115 single base substitution C T upstream_gene_variant STAD-US 19 18965495 18965495 single base substitution G A downstream_gene_variant STAD-US 19 18965495 18965495 single base substitution G A exon_variant STAD-US 19 18965495 18965495 single base substitution G A synonymous_variant V414V 1242G>A STAD-US 19 18965495 18965495 single base substitution G A synonymous_variant V425V 1275G>A STAD-US 19 18965495 18965495 single base substitution G A upstream_gene_variant STAD-US 19 18965708 18965708 single base substitution C T downstream_gene_variant STAD-US 19 18965708 18965708 single base substitution C T exon_variant STAD-US 19 18965708 18965708 single base substitution C T missense_variant T429M 1286C>T STAD-US 19 18965708 18965708 single base substitution C T missense_variant T440M 1319C>T STAD-US 19 18965708 18965708 single base substitution C T upstream_gene_variant STAD-US 19 18966037 18966037 single base substitution C T downstream_gene_variant STAD-US 19 18966037 18966037 single base substitution C T exon_variant STAD-US 19 18966037 18966037 single base substitution C T synonymous_variant A510A 1530C>T STAD-US 19 18966037 18966037 single base substitution C T synonymous_variant A521A 1563C>T STAD-US 19 18966037 18966037 single base substitution C T upstream_gene_variant STAD-US 19 18966799 18966799 single base substitution C T downstream_gene_variant STAD-US 19 18966799 18966799 single base substitution C T missense_variant T537M 1610C>T STAD-US 19 18966799 18966799 single base substitution C T missense_variant T548M 1643C>T STAD-US 19 18966799 18966799 single base substitution C T upstream_gene_variant STAD-US 19 18967091 18967092 deletion of <=200bp AG - downstream_gene_variant STAD-US 19 18967091 18967092 deletion of <=200bp AG - frameshift_variant AE602 STAD-US 19 18967091 18967092 deletion of <=200bp AG - frameshift_variant AE613 STAD-US 19 18967091 18967092 deletion of <=200bp AG - upstream_gene_variant STAD-US 19 18967769 18967769 single base substitution C T downstream_gene_variant STAD-US 19 18967769 18967769 single base substitution C T synonymous_variant D636D 1908C>T STAD-US 19 18967769 18967769 single base substitution C T synonymous_variant D647D 1941C>T STAD-US 19 18967769 18967769 single base substitution C T upstream_gene_variant STAD-US 19 18967788 18967788 single base substitution G A downstream_gene_variant STAD-US 19 18967788 18967788 single base substitution G A missense_variant E643K 1927G>A STAD-US 19 18967788 18967788 single base substitution G A missense_variant E654K 1960G>A STAD-US 19 18967788 18967788 single base substitution G A upstream_gene_variant STAD-US 19 18967816 18967816 single base substitution T C downstream_gene_variant STAD-US 19 18967816 18967816 single base substitution T C missense_variant L652P 1955T>C STAD-US 19 18967816 18967816 single base substitution T C missense_variant L663P 1988T>C STAD-US 19 18967816 18967816 single base substitution T C upstream_gene_variant STAD-US 19 18968240 18968240 single base substitution C T downstream_gene_variant STAD-US 19 18968240 18968240 single base substitution C T missense_variant R694W 2080C>T STAD-US 19 18968240 18968240 single base substitution C T missense_variant R705W 2113C>T STAD-US 19 18968240 18968240 single base substitution C T upstream_gene_variant STAD-US 19 18971148 18971148 single base substitution G C downstream_gene_variant STAD-US 19 18971148 18971148 single base substitution G C exon_variant STAD-US 19 18971148 18971148 single base substitution G C missense_variant G734A 2201G>C STAD-US 19 18971148 18971148 single base substitution G C missense_variant G745A 2234G>C STAD-US 19 18971148 18971148 single base substitution G C upstream_gene_variant STAD-US 19 18974986 18974986 single base substitution G A exon_variant STAD-US 19 18974986 18974986 single base substitution G A missense_variant R928H 2783G>A STAD-US 19 18974986 18974986 single base substitution G A missense_variant R939H 2816G>A STAD-US 19 18975059 18975059 deletion of <=200bp G - frameshift_variant Q952 STAD-US 19 18975059 18975059 deletion of <=200bp G - frameshift_variant Q963 STAD-US 19 18975059 18975059 deletion of <=200bp G - splice_region_variant THCA-SA 19 18978119 18978119 single base substitution G T 3_prime_UTR_variant THCA-SA 19 18978119 18978119 single base substitution G T exon_variant THCA-US 19 18960960 18960960 single base substitution G A exon_variant THCA-US 19 18960960 18960960 single base substitution G A missense_variant V180I 538G>A THCA-US 19 18960960 18960960 single base substitution G A upstream_gene_variant UCEC-US 19 18958581 18958581 single base substitution G A exon_variant UCEC-US 19 18958581 18958581 single base substitution G A missense_variant V134M 400G>A UCEC-US 19 18958581 18958581 single base substitution G A upstream_gene_variant UCEC-US 19 18958627 18958627 single base substitution G A exon_variant UCEC-US 19 18958627 18958627 single base substitution G A missense_variant G149E 446G>A UCEC-US 19 18958627 18958627 single base substitution G A upstream_gene_variant UCEC-US 19 18963082 18963082 single base substitution G A downstream_gene_variant UCEC-US 19 18963082 18963082 single base substitution G A exon_variant UCEC-US 19 18963082 18963082 single base substitution G A missense_variant D317N 949G>A UCEC-US 19 18963082 18963082 single base substitution G A upstream_gene_variant UCEC-US 19 18963849 18963849 single base substitution C T downstream_gene_variant UCEC-US 19 18963849 18963849 single base substitution C T exon_variant UCEC-US 19 18963849 18963849 single base substitution C T synonymous_variant I342I 1026C>T UCEC-US 19 18963849 18963849 single base substitution C T upstream_gene_variant UCEC-US 19 18963850 18963850 single base substitution G A downstream_gene_variant UCEC-US 19 18963850 18963850 single base substitution G A exon_variant UCEC-US 19 18963850 18963850 single base substitution G A missense_variant A343T 1027G>A UCEC-US 19 18963850 18963850 single base substitution G A upstream_gene_variant UCEC-US 19 18964071 18964071 single base substitution C T downstream_gene_variant UCEC-US 19 18964071 18964071 single base substitution C T exon_variant UCEC-US 19 18964071 18964071 single base substitution C T synonymous_variant L356L 1068C>T UCEC-US 19 18964071 18964071 single base substitution C T synonymous_variant L367L 1101C>T UCEC-US 19 18964071 18964071 single base substitution C T upstream_gene_variant UCEC-US 19 18965730 18965730 single base substitution G A downstream_gene_variant UCEC-US 19 18965730 18965730 single base substitution G A exon_variant UCEC-US 19 18965730 18965730 single base substitution G A synonymous_variant S436S 1308G>A UCEC-US 19 18965730 18965730 single base substitution G A synonymous_variant S447S 1341G>A UCEC-US 19 18965730 18965730 single base substitution G A upstream_gene_variant UCEC-US 19 18965998 18965998 single base substitution G A downstream_gene_variant UCEC-US 19 18965998 18965998 single base substitution G A exon_variant UCEC-US 19 18965998 18965998 single base substitution G A synonymous_variant G497G 1491G>A UCEC-US 19 18965998 18965998 single base substitution G A synonymous_variant G508G 1524G>A UCEC-US 19 18965998 18965998 single base substitution G A upstream_gene_variant UCEC-US 19 18966854 18966854 single base substitution G T downstream_gene_variant UCEC-US 19 18966854 18966854 single base substitution G T synonymous_variant P555P 1665G>T UCEC-US 19 18966854 18966854 single base substitution G T synonymous_variant P566P 1698G>T UCEC-US 19 18966854 18966854 single base substitution G T upstream_gene_variant UCEC-US 19 18967072 18967072 single base substitution G A downstream_gene_variant UCEC-US 19 18967072 18967072 single base substitution G A missense_variant R596Q 1787G>A UCEC-US 19 18967072 18967072 single base substitution G A missense_variant R607Q 1820G>A UCEC-US 19 18967072 18967072 single base substitution G A upstream_gene_variant UCEC-US 19 18967089 18967089 single base substitution G A downstream_gene_variant UCEC-US 19 18967089 18967089 single base substitution G A missense_variant A602T 1804G>A UCEC-US 19 18967089 18967089 single base substitution G A missense_variant A613T 1837G>A UCEC-US 19 18967089 18967089 single base substitution G A upstream_gene_variant UCEC-US 19 18967730 18967730 single base substitution G A downstream_gene_variant UCEC-US 19 18967730 18967730 single base substitution G A synonymous_variant P623P 1869G>A UCEC-US 19 18967730 18967730 single base substitution G A synonymous_variant P634P 1902G>A UCEC-US 19 18967730 18967730 single base substitution G A upstream_gene_variant UCEC-US 19 18968261 18968261 single base substitution C T downstream_gene_variant UCEC-US 19 18968261 18968261 single base substitution C T stop_gained Q701* 2101C>T UCEC-US 19 18968261 18968261 single base substitution C T stop_gained Q712* 2134C>T UCEC-US 19 18968261 18968261 single base substitution C T upstream_gene_variant UCEC-US 19 18971741 18971741 single base substitution C A exon_variant UCEC-US 19 18971741 18971741 single base substitution C A missense_variant L803M 2407C>A UCEC-US 19 18971741 18971741 single base substitution C A missense_variant L814M 2440C>A UCEC-US 19 18971741 18971741 single base substitution C A upstream_gene_variant UCEC-US 19 18974273 18974273 single base substitution C T exon_variant UCEC-US 19 18974273 18974273 single base substitution C T missense_variant P876L 2627C>T UCEC-US 19 18974273 18974273 single base substitution C T missense_variant P887L 2660C>T UCEC-US 19 18976892 18976892 single base substitution G A exon_variant UCEC-US 19 18976892 18976892 single base substitution G A missense_variant V1093M 3277G>A UCEC-US 19 18976892 18976892 single base substitution G A missense_variant V1104M 3310G>A UCEC-US 19 18976928 18976928 single base substitution C T exon_variant UCEC-US 19 18976928 18976928 single base substitution C T missense_variant R1105W 3313C>T UCEC-US 19 18976928 18976928 single base substitution C T missense_variant R1116W 3346C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 8035693 COSM3388744 c.1640A>T p.K547M Substitution - Missense 19:18856020-18856020 + PT34 COSM5389141 c.2704C>T p.P902S Substitution - Missense 19:18863541-18863541 + TCGA-G2-A2ES-01 COSM1304214 c.1281G>A p.L427L Substitution - coding silent 19:18854894-18854894 + H1155 COSM1195482 c.1610C>T p.T537M Substitution - Missense 19:18855990-18855990 + TCGA-BR-A4PE-01 COSM4075750 c.1242G>A p.V414V Substitution - coding silent 19:18854686-18854686 + TCGA-EE-A2MT-06 COSM3530888 c.2212C>T p.Q738* Substitution - Nonsense 19:18860350-18860350 + TCGA-BT-A3PH-01 COSM1304215 c.2109G>C p.R703R Substitution - coding silent 19:18857460-18857460 + TCGA-BR-7707-01 COSM3100534 c.1927G>A p.E643K Substitution - Missense 19:18856979-18856979 + TCGA-GF-A3OT-06 COSM3530872 c.10G>A p.E4K Substitution - Missense 19:18832219-18832219 + CSCC-11-T COSM253879 c.2241C>T p.F747F Substitution - coding silent 19:18860379-18860379 + TCGA-J9-A52C-01 COSM3100555 c.3071G>A p.R1024H Substitution - Missense 19:18865612-18865612 + TCGA-32-5222-01 COSM3403969 c.595G>A p.A199T Substitution - Missense 19:18850208-18850208 + TCGA-EE-A2M5-06 COSM3530882 c.1565C>T p.P522L Substitution - Missense 19:18855945-18855945 + HCC107 COSM1231845 c.1478C>T p.P493L Substitution - Missense 19:18855176-18855176 + T3091 COSM4739437 c.1709G>T p.S570I Substitution - Missense 19:18856089-18856089 + SNU-C4 COSM993168 c.1027G>A p.A343T Substitution - Missense 19:18853041-18853041 + TCGA-BR-6452-01 COSM87954 c.1286C>T p.T429M Substitution - Missense 19:18854899-18854899 + TCGA-D3-A2J6-06 COSM3530878 c.544G>T p.E182* Substitution - Nonsense 19:18850157-18850157 + PT44 COSM5927048 c.1658A>T p.D553V Substitution - Missense 19:18856038-18856038 + TCGA-FP-A4BE-01 COSM4075761 c.2080C>T p.R694W Substitution - Missense 19:18857431-18857431 + OSCC-GB_00990111 COSM4885702 c.1397A>G p.Q466R Substitution - Missense 19:18855010-18855010 + MBRep_T45 COSM307165 c.1635C>T p.C545C Substitution - coding silent 19:18856015-18856015 + TCGA-AA-3712-01 COSM3756510 c.138G>A p.T46T Substitution - coding silent 19:18832347-18832347 + TCGA-AP-A0LT-01 COSM993172 c.1665G>T p.P555P Substitution - coding silent 19:18856045-18856045 + CACO2 COSM3100484 c.141C>T p.P47P Substitution - coding silent 19:18832350-18832350 + OSCC-GB_00940111 COSM4891632 c.919G>A p.G307R Substitution - Missense 19:18852243-18852243 + HCC37 COSM1611845 c.2905A>C p.I969L Substitution - Missense 19:18865336-18865336 + HN_63080 COSM127016 c.1168G>T p.E390* Substitution - Nonsense 19:18854612-18854612 + TCGA-IR-A3LL-01 COSM4850091 c.1594G>A p.E532K Substitution - Missense 19:18855974-18855974 + T3021 COSM4739443 c.2494C>T p.R832C Substitution - Missense 19:18862046-18862046 + TCGA-DK-A1A3-01 COSM417689 c.1017G>A p.K339K Substitution - coding silent 19:18853031-18853031 + TCGA-B6-A0IK-01 COSM5833675 c.1709+2delT p.? Unknown 19:18856091-18856091 + CRC-06T COSM5457557 c.1443_1444delTG p.V482fs*68 Deletion - Frameshift 19:18855141-18855142 + TCGA-34-5231-01 COSM711085 c.582C>T p.L194L Substitution - coding silent 19:18850195-18850195 + OSCC-GB_00700111 COSM4890628 c.3333G>T p.G1111G Substitution - coding silent 19:18866139-18866139 + S00831 COSM5660505 c.1157-3C>G p.? Unknown 19:18854598-18854598 + TCGA-LL-A5YL-01 COSM3822373 c.1802C>A p.T601N Substitution - Missense 19:18856278-18856278 + BD242T COSM1750739 c.2055C>T p.F685F Substitution - coding silent 19:18857406-18857406 + TCGA-CW-6087-01 COSM474379 c.491A>G p.K164R Substitution - Missense 19:18850104-18850104 + COLO678 COSM3100515 c.1356C>T p.D452D Substitution - coding silent 19:18854969-18854969 + SJAMLM7005 COSM4776046 c.2497G>C p.E833Q Substitution - Missense 19:18862049-18862049 + BCB111T COSM4790477 c.2961G>A p.L987L Substitution - coding silent 19:18865392-18865392 + RH18C COSM3100511 c.1122G>A p.W374* Substitution - Nonsense 19:18853316-18853316 + B66 COSM1750739 c.2055C>T p.F685F Substitution - coding silent 19:18857406-18857406 + TCGA-13-0760-01 COSM81888 c.894C>T p.D298D Substitution - coding silent 19:18852218-18852218 + 060T COSM1730037 c.1927G>T p.E643* Substitution - Nonsense 19:18856979-18856979 + YUOMEGA COSM5389143 c.3194C>T p.S1065F Substitution - Missense 19:18865735-18865735 + B65 COSM1750738 c.498A>T p.K166N Substitution - Missense 19:18850111-18850111 + TCGA-B5-A11E-01 COSM993180 c.3277G>A p.V1093M Substitution - Missense 19:18866083-18866083 + CSCC-20-T COSM4509757 c.816C>T p.N272N Substitution - coding silent 19:18852140-18852140 + LUAD-S01405 COSM398983 c.1748A>G p.E583G Substitution - Missense 19:18856224-18856224 + 23_tFL COSM4170989 c.60delG p.A21fs*73 Deletion - Frameshift 19:18832269-18832269 + TCGA-EP-A2KB-01 COSM4921586 c.884G>T p.R295L Substitution - Missense 19:18852208-18852208 + TCGA-22-5474-01 COSM711086 c.487G>A p.A163T Substitution - Missense 19:18850100-18850100 + TCGA-F1-6874-01 COSM3100510 c.1112C>T p.A371V Substitution - Missense 19:18853306-18853306 + TCGA-CA-6717-01 COSM1391744 c.2783G>A p.R928H Substitution - Missense 19:18864177-18864177 + RKO COSM3100527 c.1679C>T p.A560V Substitution - Missense 19:18856059-18856059 + TCGA-AA-A010-01 COSM286355 c.1163G>A p.G388D Substitution - Missense 19:18854607-18854607 + SC_9081 COSM5569656 c.827C>T p.T276M Substitution - Missense 19:18852151-18852151 + TCGA-AP-A051-01 COSM993168 c.1027G>A p.A343T Substitution - Missense 19:18853041-18853041 + TCGA-BS-A0UL-01 COSM993181 c.3313C>T p.R1105W Substitution - Missense 19:18866119-18866119 + 587220 COSM1231842 c.1177A>G p.I393V Substitution - Missense 19:18854621-18854621 + 344634 COSM3100529 c.1774G>A p.E592K Substitution - Missense 19:18856250-18856250 + PD13771a COSM5800394 c.2361G>A p.P787P Substitution - coding silent 19:18860886-18860886 + SH-0622 COSM5017901 c.657delC p.K220fs*13 Deletion - Frameshift 19:18850715-18850715 + TCGA-CJ-4882-01 COSM474381 c.2785T>C p.F929L Substitution - Missense 19:18864179-18864179 + S01366 COSM5668079 c.2857G>C p.G953R Substitution - Missense 19:18864251-18864251 + sysucc-1317T COSM5449210 c.1983C>T p.G661G Substitution - coding silent 19:18857334-18857334 + CH-103-T2 COSM5650322 c.1265+2T>A p.? Unknown 19:18854711-18854711 + TCGA-G4-6302-01 COSM3692534 c.442C>T p.R148C Substitution - Missense 19:18847814-18847814 + MB108C COSM87954 c.1286C>T p.T429M Substitution - Missense 19:18854899-18854899 + HCT8 COSM3100516 c.1385G>A p.R462H Substitution - Missense 19:18854998-18854998 + 02-P170 COSM4580816 c.3079C>T p.L1027F Substitution - Missense 19:18865620-18865620 + B13 COSM253879 c.2241C>T p.F747F Substitution - coding silent 19:18860379-18860379 + ESO-085 COSM1270001 c.1073A>T p.Q358L Substitution - Missense 19:18853267-18853267 + TCGA-CG-5723-01 COSM1195482 c.1610C>T p.T537M Substitution - Missense 19:18855990-18855990 + HCC37T COSM1611845 c.2905A>C p.I969L Substitution - Missense 19:18865336-18865336 + TCGA-19-2623-01 COSM3403973 c.3059G>A p.R1020H Substitution - Missense 19:18865600-18865600 + TCGA-AM-5820-01 COSM3756512 c.3134C>T p.A1045V Substitution - Missense 19:18865675-18865675 + CSCC-31-T COSM4478278 c.2226C>T p.P742P Substitution - coding silent 19:18860364-18860364 + Pat_01_A COSM5855105 c.736C>T p.P246S Substitution - Missense 19:18850794-18850794 + TCGA-AA-A010-01 COSM286356 c.2613C>A p.I871I Substitution - coding silent 19:18863450-18863450 + U343 COSM5712877 c.2115C>T p.H705H Substitution - coding silent 19:18857466-18857466 + HCT15 COSM3100562 c.3247C>A p.L1083I Substitution - Missense 19:18866053-18866053 + MOLT-4 COSM1680809 c.1909G>A p.E637K Substitution - Missense 19:18856961-18856961 + TCGA-32-1979-01 COSM3403971 c.2090G>A p.R697H Substitution - Missense 19:18857441-18857441 + TCGA-DK-A3WW-01 COSM3796827 c.1210G>A p.E404K Substitution - Missense 19:18854654-18854654 + PD9064a COSM5801327 c.3056_3057insGAC p.G1019_R1020insT Insertion - In frame 19:18865597-18865598 + TCGA-EI-6507-01 COSM5077933 c.1770_1772delCGA p.D591delD Deletion - In frame 19:18856246-18856248 + 98 COSM5013400 c.1283A>C p.K428T Substitution - Missense 19:18854896-18854896 + TCGA-HT-A5R9-01 COSM3970844 c.2089C>T p.R697C Substitution - Missense 19:18857440-18857440 + TCGA-AA-3713-01 COSM1391743 c.2573G>A p.R858H Substitution - Missense 19:18862125-18862125 + TCGA-AP-A059-01 COSM993177 c.2407C>A p.L803M Substitution - Missense 19:18860932-18860932 + C086 COSM5541410 c.1714C>T p.P572S Substitution - Missense 19:18856190-18856190 + TCGA-DJ-A3US-01 COSM3371223 c.538G>A p.V180I Substitution - Missense 19:18850151-18850151 + BCB111T COSM4790477 c.2961G>A p.L987L Substitution - coding silent 19:18865392-18865392 + ESCC_1 COSM3100552 c.3019+1G>T p.? Unknown 19:18865451-18865451 + Gp2D COSM3100551 c.3012T>C p.P1004P Substitution - coding silent 19:18865443-18865443 + 587342 COSM1231845 c.1478C>T p.P493L Substitution - Missense 19:18855176-18855176 + TCGA-FU-A23K-01 COSM460015 c.1720C>T p.L574L Substitution - coding silent 19:18856196-18856196 + cSCCP4 COSM143517 c.2018_2019AG>TA p.K673I Substitution - Missense 19:18857369-18857370 + TCGA-G4-6309-01 COSM1391740 c.763C>T p.R255C Substitution - Missense 19:18850821-18850821 + D9 COSM5007829 c.245G>A p.G82D Substitution - Missense 19:18845993-18845993 + DLD1 COSM4623880 c.478C>A p.L160I Substitution - Missense 19:18850091-18850091 + CN-AML-NR-22-Dx COSM5424243 c.3225G>A p.P1075P Substitution - coding silent 19:18865766-18865766 + B66-Tumor COSM1750739 c.2055C>T p.F685F Substitution - coding silent 19:18857406-18857406 + CHC2141T COSM4790189 c.2811C>G p.A937A Substitution - coding silent 19:18864205-18864205 + CHC2141T COSM4790189 c.2811C>G p.A937A Substitution - coding silent 19:18864205-18864205 + CSCC-10-T COSM4460624 c.1173C>T p.I391I Substitution - coding silent 19:18854617-18854617 + OSCC-GB_00950111 COSM4881855 c.3042G>A p.K1014K Substitution - coding silent 19:18865583-18865583 + T2944 COSM4739447 c.3135G>A p.A1045A Substitution - coding silent 19:18865676-18865676 + PT37 COSM5921607 c.2776-1G>A p.? Unknown 19:18864169-18864169 + TCGA-CM-6171-01 COSM1391746 c.3214C>A p.L1072I Substitution - Missense 19:18865755-18865755 + HCC2998 COSM711079 c.2399G>A p.R800H Substitution - Missense 19:18860924-18860924 + CSCC-35-T COSM4517667 c.391_392CC>TT p.P131F Substitution - Missense 19:18847763-18847764 + TCGA-G9-6342-01 COSM3672796 c.3224C>A p.P1075Q Substitution - Missense 19:18865765-18865765 + LUAD-QY22Z COSM394677 c.1165G>A p.D389N Substitution - Missense 19:18854609-18854609 + TCGA-BR-4368-01 COSM4075756 c.1908C>T p.D636D Substitution - coding silent 19:18856960-18856960 + 3N24-VS-3T24 COSM4979754 c.2334G>A p.T778T Substitution - coding silent 19:18860859-18860859 + SC_9027 COSM5556821 c.3273C>T p.I1091I Substitution - coding silent 19:18866079-18866079 + SJAMLM7005 COSM4776046 c.2497G>C p.E833Q Substitution - Missense 19:18862049-18862049 + RDES COSM4580814 c.2242T>G p.F748V Substitution - Missense 19:18860380-18860380 + TCGA-BR-4184-01 COSM1391744 c.2783G>A p.R928H Substitution - Missense 19:18864177-18864177 + TCGA-B5-A0JY-01 COSM993167 c.1026C>T p.I342I Substitution - coding silent 19:18853040-18853040 + CSCC-47-T COSM4537086 c.237G>T p.G79G Substitution - coding silent 19:18845985-18845985 + 2492729 COSM5726059 c.1692G>A p.Q564Q Substitution - coding silent 19:18856072-18856072 + LUAD-S01302 COSM395706 c.621G>T p.L207L Substitution - coding silent 19:18850234-18850234 + RK261_C01 COSM4778658 c.758G>T p.R253L Substitution - Missense 19:18850816-18850816 + CACO2 COSM3100485 c.142C>T p.P48S Substitution - Missense 19:18832351-18832351 + 587278 COSM1231843 c.1276G>A p.A426T Substitution - Missense 19:18854889-18854889 + TCGA-AA-3713-01 COSM3756510 c.138G>A p.T46T Substitution - coding silent 19:18832347-18832347 + T3090 COSM4739445 c.3052delG p.G1019fs*36 Deletion - Frameshift 19:18865593-18865593 + CSCC-27-T COSM4460624 c.1173C>T p.I391I Substitution - coding silent 19:18854617-18854617 + PD9605a COSM5800870 c.554A>G p.N185S Substitution - Missense 19:18850167-18850167 + YULAN COSM1712064 c.2263G>A p.E755K Substitution - Missense 19:18860401-18860401 + TCGA-ER-A2NG-06 COSM3530880 c.1265G>A p.R422K Substitution - Missense 19:18854709-18854709 + TCGA-ED-A459-01 COSM4935749 c.1723C>T p.Q575* Substitution - Nonsense 19:18856199-18856199 + T2269 COSM4739441 c.1905C>T p.I635I Substitution - coding silent 19:18856957-18856957 + SC_9043 COSM1231844 c.2527C>T p.R843W Substitution - Missense 19:18862079-18862079 + TCGA-AC-A23H-01 COSM3822371 c.534G>A p.E178E Substitution - coding silent 19:18850147-18850147 + TCGA-D1-A17D-01 COSM993170 c.1308G>A p.S436S Substitution - coding silent 19:18854921-18854921 + B85-0-Tumor COSM1750740 c.2662C>T p.L888L Substitution - coding silent 19:18863499-18863499 + AOCS-064-3-3 COSM4140418 c.3019+9C>T p.? Unknown 19:18865459-18865459 + C0056T COSM4154102 c.2858-9G>A p.? Unknown 19:18865280-18865280 + LUAD-RT-S01818 COSM383942 c.2207A>T p.D736V Substitution - Missense 19:18860345-18860345 + TCGA-B5-A11E-01 COSM993166 c.949G>A p.D317N Substitution - Missense 19:18852273-18852273 + sysucc-882T COSM5447292 c.3022C>T p.R1008* Substitution - Nonsense 19:18865563-18865563 + TCGA-D5-6540-01 COSM1391742 c.2437C>A p.L813M Substitution - Missense 19:18860962-18860962 + TCGA-DG-A2KM-01 COSM4851662 c.2895G>C p.Q965H Substitution - Missense 19:18865326-18865326 + HCC2998 COSM711079 c.2399G>A p.R800H Substitution - Missense 19:18860924-18860924 + CSB1 COSM5028527 c.1313C>G p.S438C Substitution - Missense 19:18854926-18854926 + TCGA-EB-A3Y6-01 COSM3530894 c.2358G>A p.K786K Substitution - coding silent 19:18860883-18860883 + MO_1012 COSM4612899 c.1806_1807delAG p.E605fs*17 Deletion - Frameshift 19:18856282-18856283 + PTC-7C COSM4131478 c.1480C>A p.P494T Substitution - Missense 19:18855178-18855178 + LUAD_E00565 COSM389280 c.1607A>G p.Q536R Substitution - Missense 19:18855987-18855987 + TCGA-39-5031-01 COSM711084 c.1153G>C p.D385H Substitution - Missense 19:18853347-18853347 + TCGA-EE-A2MM-06 COSM3530886 c.2188C>T p.R730C Substitution - Missense 19:18860326-18860326 + TCGA-D1-A103-01 COSM993174 c.1804G>A p.A602T Substitution - Missense 19:18856280-18856280 + TCGA-G2-A3IE-01 COSM1304213 c.94G>C p.E32Q Substitution - Missense 19:18832303-18832303 + C008 COSM5524151 c.3233C>T p.S1078F Substitution - Missense 19:18865774-18865774 + SC_9081 COSM5557222 c.1171A>T p.I391F Substitution - Missense 19:18854615-18854615 + T3080 COSM4739435 c.138_139insC p.G49fs*54 Insertion - Frameshift 19:18832347-18832348 + 1517_PT COSM5755301 c.2476G>A p.V826M Substitution - Missense 19:18862028-18862028 + TCGA-BR-8364-01 COSM4075743 c.315C>G p.F105L Substitution - Missense 19:18846063-18846063 + TCGA-HU-A4GQ-01 COSM4075745 c.336C>A p.T112T Substitution - coding silent 19:18846084-18846084 + CSCC-15-T COSM4480263 c.2402C>T p.S801F Substitution - Missense 19:18860927-18860927 + TCGA-D5-5540-01 COSM1391741 c.1178T>C p.I393T Substitution - Missense 19:18854622-18854622 + ZZUFHECRKL-G032T COSM5432682 c.2886C>G p.T962T Substitution - coding silent 19:18865317-18865317 + HDC101 COSM81888 c.894C>T p.D298D Substitution - coding silent 19:18852218-18852218 + Gp5D COSM3100551 c.3012T>C p.P1004P Substitution - coding silent 19:18865443-18865443 + B85-0 COSM1750740 c.2662C>T p.L888L Substitution - coding silent 19:18863499-18863499 + SNU-175 COSM3100540 c.2168A>G p.N723S Substitution - Missense 19:18857519-18857519 + TCGA-HU-A4GN-01 COSM4075759 c.1955T>C p.L652P Substitution - Missense 19:18857007-18857007 + LS411 COSM3100500 c.828G>A p.T276T Substitution - coding silent 19:18852152-18852152 + TCGA-36-2545-01 COSM1325390 c.1877C>T p.A626V Substitution - Missense 19:18856929-18856929 + TCGA-CD-A4MH-01 COSM4075747 c.925C>G p.L309V Substitution - Missense 19:18852249-18852249 + PCSI_0083_Pa_P_526 COSM3787598 c.1657G>A p.D553N Substitution - Missense 19:18856037-18856037 + HCT8 COSM4634392 c.2673C>T p.Y891Y Substitution - coding silent 19:18863510-18863510 + TCGA-ER-A19F-06 COSM3530902 c.3246C>T p.Y1082Y Substitution - coding silent 19:18866052-18866052 + TCGA-AK-3427-01 COSM1494196 c.372-2A>T p.? Unknown 19:18847742-18847742 + 8050103 COSM1750739 c.2055C>T p.F685F Substitution - coding silent 19:18857406-18857406 + MN-296 COSM1578762 c.3175A>G p.I1059V Substitution - Missense 19:18865716-18865716 + TCGA-BG-A18C-01 COSM993173 c.1787G>A p.R596Q Substitution - Missense 19:18856263-18856263 + TCGA-D1-A16J-01 COSM993171 c.1491G>A p.G497G Substitution - coding silent 19:18855189-18855189 + PT37 COSM5921609 c.3237+7C>T p.? Unknown 19:18865785-18865785 + ESCC_132 COSM3970844 c.2089C>T p.R697C Substitution - Missense 19:18857440-18857440 + TCGA-D1-A0ZO-01 COSM993164 c.400G>A p.V134M Substitution - Missense 19:18847772-18847772 + TCGA-B5-A0K3-01 COSM993175 c.1869G>A p.P623P Substitution - coding silent 19:18856921-18856921 + TCGA-AP-A051-01 COSM993178 c.2627C>T p.P876L Substitution - Missense 19:18863464-18863464 + TCGA-AG-A002-01 COSM264580 c.2607C>T p.G869G Substitution - coding silent 19:18863444-18863444 + SNU-C2B COSM4279883 c.1891C>T p.R631C Substitution - Missense 19:18856943-18856943 + CSCC-56-T COSM4515143 c.99C>T p.F33F Substitution - coding silent 19:18832308-18832308 + B65-Tumor COSM1750738 c.498A>T p.K166N Substitution - Missense 19:18850111-18850111 + TCGA-F5-6814-01 COSM1680809 c.1909G>A p.E637K Substitution - Missense 19:18856961-18856961 + TCGA-EB-A24D-01 COSM3530874 c.63C>T p.A21A Substitution - coding silent 19:18832272-18832272 + TCGA-AZ-6601-01 COSM1391739 c.258C>T p.N86N Substitution - coding silent 19:18846006-18846006 + PCSI_0083_Pa_P_526 COSM3787596 c.1352A>C p.E451A Substitution - Missense 19:18854965-18854965 + YUMOBER COSM5389141 c.2704C>T p.P902S Substitution - Missense 19:18863541-18863541 + TCGA-B5-A11E-01 COSM993169 c.1068C>T p.L356L Substitution - coding silent 19:18853262-18853262 + TCGA-CG-4437-01 COSM4075763 c.2201G>C p.G734A Substitution - Missense 19:18860339-18860339 + PD17994a COSM5790493 c.2644C>T p.Q882* Substitution - Nonsense 19:18863481-18863481 + TCGA-BS-A0UV-01 COSM993165 c.446G>A p.G149E Substitution - Missense 19:18847818-18847818 + WT047 COSM5352102 c.1906G>T p.D636Y Substitution - Missense 19:18856958-18856958 + T368 COSM4739439 c.1850G>A p.C617Y Substitution - Missense 19:18856902-18856902 + PD24190a COSM5780830 c.782A>T p.Q261L Substitution - Missense 19:18850840-18850840 + 2290930 COSM4440587 c.2987G>A p.G996D Substitution - Missense 19:18865418-18865418 + CSCC-31-T COSM4516856 c.2402_2403CC>TT p.S801F Substitution - Missense 19:18860927-18860928 + TCGA-AB-2832-03 COSM307165 c.1635C>T p.C545C Substitution - coding silent 19:18856015-18856015 + TCGA-AX-A0J1-01 COSM993176 c.2101C>T p.Q701* Substitution - Nonsense 19:18857452-18857452 + TCGA-IR-A3LH-01 COSM4538961 c.2628G>A p.P876P Substitution - coding silent 19:18863465-18863465 + PCSI_0083_Pa_X COSM3787596 c.1352A>C p.E451A Substitution - Missense 19:18854965-18854965 + Pat_59_B COSM5855107 c.2266G>A p.E756K Substitution - Missense 19:18860404-18860404 + TCGA-EE-A29S-06 COSM3530892 c.2338T>C p.L780L Substitution - coding silent 19:18860863-18860863 + 587332 COSM1231844 c.2527C>T p.R843W Substitution - Missense 19:18862079-18862079 + TCGA-D1-A17A-01 COSM993179 c.3030C>T p.T1010T Substitution - coding silent 19:18865571-18865571 + LIM1215 COSM4612899 c.1806_1807delAG p.E605fs*17 Deletion - Frameshift 19:18856282-18856283 + HCC109T COSM5816806 c.1825-2A>G p.? Unknown 19:18856875-18856875 + HCT15 COSM3100516 c.1385G>A p.R462H Substitution - Missense 19:18854998-18854998 + TCGA-FS-A1YW-06 COSM3530884 c.2028C>T p.A676A Substitution - coding silent 19:18857379-18857379 + HCC57T COSM1611844 c.909G>T p.Q303H Substitution - Missense 19:18852233-18852233 + TCGA-GF-A6C9-06 COSM4901159 c.525C>T p.P175P Substitution - coding silent 19:18850138-18850138 + ATL089 COSM4075761 c.2080C>T p.R694W Substitution - Missense 19:18857431-18857431 + TCGA-EE-A29R-06 COSM3530896 c.2857+1G>A p.? Unknown 19:18864252-18864252 + S02375 COSM5696505 c.2686A>T p.K896* Substitution - Nonsense 19:18863523-18863523 + TCGA-A2-A0CQ-01 COSM87954 c.1286C>T p.T429M Substitution - Missense 19:18854899-18854899 + TCGA-G4-6626-01 COSM993174 c.1804G>A p.A602T Substitution - Missense 19:18856280-18856280 + TCGA-EE-A2GO-06 COSM3530876 c.529G>A p.G177R Substitution - Missense 19:18850142-18850142 + BK0048 COSM4187890 c.1170G>T p.E390D Substitution - Missense 19:18854614-18854614 + HCC107T COSM1231845 c.1478C>T p.P493L Substitution - Missense 19:18855176-18855176 + 59 COSM4075761 c.2080C>T p.R694W Substitution - Missense 19:18857431-18857431 + CSCC-19-T COSM4485597 c.2950C>T p.P984S Substitution - Missense 19:18865381-18865381 + VLTS-4 COSM5702881 c.2846G>A p.R949Q Substitution - Missense 19:18864240-18864240 + YUROL COSM5389139 c.2359_2360CC>TT p.P787L Substitution - Missense 19:18860884-18860885 + BK0043 COSM4187597 c.3100A>G p.N1034D Substitution - Missense 19:18865641-18865641 + CN-AML-22-T COSM5424243 c.3225G>A p.P1075P Substitution - coding silent 19:18865766-18865766 + CSCC-20-T COSM4524478 c.1274G>T p.S425I Substitution - Missense 19:18854887-18854887 + Case5c COSM1716988 c.2676T>C p.Y892Y Substitution - coding silent 19:18863513-18863513 + TCGA-EI-6513-01 COSM5078721 c.1892G>A p.R631H Substitution - Missense 19:18856944-18856944 + TCGA-D7-6519-01 COSM4075753 c.1530C>T p.A510A Substitution - coding silent 19:18855228-18855228 + 90482 COSM330367 c.858C>T p.D286D Substitution - coding silent 19:18852182-18852182 + TCGA-22-5477-01 COSM711082 c.1174G>A p.A392T Substitution - Missense 19:18854618-18854618 + S02255 COSM5680591 c.757C>T p.R253W Substitution - Missense 19:18850815-18850815 + CSCC-30-T COSM4538961 c.2628G>A p.P876P Substitution - coding silent 19:18863465-18863465 + 11M COSM5577184 c.1647T>G p.R549R Substitution - coding silent 19:18856027-18856027 + TCGA-EE-A29R-06 COSM3891979 c.2069T>G p.V690G Substitution - Missense 19:18857420-18857420 + CSCC-42-T COSM4478630 c.2254C>T p.Q752* Substitution - Nonsense 19:18860392-18860392 + TCGA-EE-A29E-06 COSM3530900 c.3049C>T p.R1017C Substitution - Missense 19:18865590-18865590 + RK308_C01 COSM3742836 c.2798C>T p.A933V Substitution - Missense 19:18864192-18864192 + TCGA-GN-A26C-01 COSM3530898 c.2912C>T p.A971V Substitution - Missense 19:18865343-18865343 + T3174 COSM4612899 c.1806_1807delAG p.E605fs*17 Deletion - Frameshift 19:18856282-18856283 + BD232T COSM5501563 c.1321A>G p.I441V Substitution - Missense 19:18854934-18854934 + HN_63080 COSM130083 c.1180G>A p.E394K Substitution - Missense 19:18854624-18854624 + DLD1 COSM3100516 c.1385G>A p.R462H Substitution - Missense 19:18854998-18854998 + LUAD-QY22Z COSM404002 c.209C>G p.A70G Substitution - Missense 19:18832418-18832418 + TCGA-AA-3821-01 COSM294932 c.2151C>T p.Y717Y Substitution - coding silent 19:18857502-18857502 + TCGA-AS-3778-01 COSM1494196 c.372-2A>T p.? Unknown 19:18847742-18847742 + STC263 COSM5056402 c.2925C>T p.H975H Substitution - coding silent 19:18865356-18865356 + KPOPBR-03-T COSM5965023 c.2183-7C>G p.? Unknown 19:18860314-18860314 + TCGA-ER-A193-06 COSM3530890 c.2288C>T p.S763F Substitution - Missense 19:18860426-18860426 + CSCC-10-T COSM4481081 c.2483C>T p.A828V Substitution - Missense 19:18862035-18862035 + 587256 COSM1231846 c.1212G>T p.E404D Substitution - Missense 19:18854656-18854656 + TCGA-66-2782-01 COSM711079 c.2399G>A p.R800H Substitution - Missense 19:18860924-18860924 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.515266 19p13.2-p13.11 601430 2398284|CGAP|BC039817|C/T|non-coding||5125|Candidate; 2398285|CGAP|BC039817|C/T|non-coding||5124|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K142R c.425A>G 19 18958606 HNSC A G Missense p.K164R c.491A>G 19 18960913 RCCC A G Missense p.K547E c.1639A>G 19 18966828 HNSC A T Missense p.E755V c.2264A>T 19 18971211 LUAD A T Missense p.Q358L c.1073A>T 19 18964076 ESCA C A Missense p.P649T c.1945C>A 19 18967806 HNSC C A Missense p.Q640K c.1918C>A 19 18967779 STAD C G Missense p.F33L c.99C>G 19 18943117 HNSC C G Missense p.R954G c.2860C>G 19 18976100 CM C G Missense p.S438C c.1313C>G 19 18965735 BRCA C T Missense p.A371V c.1112C>T 19 18964115 STAD C T Missense p.A971V c.2912C>T 19 18976152 CM C T Missense p.L1027F c.3079C>T 19 18976429 CM C T Missense p.P246L c.737C>T 19 18961604 CM C T Missense p.P522L c.1565C>T 19 18966754 CM C T Missense p.P943L c.2828C>T 19 18975031 CM C T Missense p.R1105W c.3313C>T 19 18976928 UCEC C T Missense p.R462C c.1384C>T 19 18965806 BRCA C T Missense p.R730C c.2188C>T 19 18971135 CM C T Missense p.S763F c.2288C>T 19 18971235 CM C T Missense p.T429M c.1286C>T 19 18965708 BRCA C T Nonsense p.Q738* c.2212C>T 19 18971159 CM C T Synonymous p.A21A c.63C>T 19 18943081 CM C T Synonymous p.A510A c.1530C>T 19 18966037 STAD C T Synonymous p.A676A c.2028C>T 19 18968188 CM C T Synonymous p.A678A c.2034C>T 19 18968194 HNSC C T Synonymous p.D225D c.675C>T 19 18961542 CM C T Synonymous p.D298D c.894C>T 19 18963027 COREAD C T Synonymous p.D298D c.894C>T 19 18963027 OV C T Synonymous p.D636D c.1908C>T 19 18967769 STAD C T Synonymous p.F192F c.576C>T 19 18960998 CM C T Synonymous p.F737F c.2211C>T 19 18971158 CM C T Synonymous p.I552I c.1656C>T 19 18966845 STAD C T Synonymous p.L194L c.582C>T 19 18961004 LUSC C T Synonymous p.L293L c.879C>T 19 18963012 CM C T Synonymous p.Y1082Y c.3246C>T 19 18976861 CM G A Missense p.A163T c.487G>A 19 18960909 LUSC G A Missense p.A199T c.595G>A 19 18961017 GBM G A Missense p.A392T c.1174G>A 19 18965427 LUSC G A Missense p.E102K c.304G>A 19 18956861 HNSC G A Missense p.E109K c.325G>A 19 18956882 LUAD G A Missense p.E394K c.1180G>A 19 18965433 HNSC G A Missense p.G177R c.529G>A 19 18960951 CM G A Missense p.R1020H c.3059G>A 19 18976409 GBM G A Missense p.R422K c.1265G>A 19 18965518 CM G A Missense p.R596Q c.1787G>A 19 18967072 UCEC G A Missense p.R697H c.2090G>A 19 18968250 GBM G A Missense p.R800H c.2399G>A 19 18971733 LUSC G A Missense p.V134M c.400G>A 19 18958581 UCEC G A Missense p.V180I c.538G>A 19 18960960 THCA G A Nonsense p.W885* c.2655G>A 19 18974301 CM G A SpliceDonorSNV . c.2857+1G>A 19 18975061 CM G A Synonymous p.G497G c.1491G>A 19 18965998 UCEC G A Synonymous p.K339K c.1017G>A 19 18963840 BLCA G A Synonymous p.L427L c.1281G>A 19 18965703 BLCA G A Synonymous p.S436S c.1308G>A 19 18965730 UCEC G C Missense p.D385H c.1153G>C 19 18964156 LUSC G C Missense p.E32Q c.94G>C 19 18943112 BLCA G C Missense p.G734A c.2201G>C 19 18971148 STAD G C Synonymous p.R703R c.2109G>C 19 18968269 BLCA G C Synonymous p.V670V c.2010G>C 19 18968170 LUAD G T Missense p.R928L c.2783G>T 19 18974986 BRCA G T Nonsense p.E182* c.544G>T 19 18960966 CM G T Nonsense p.E390* c.1168G>T 19 18965421 HNSC G T Synonymous p.P555P c.1665G>T 19 18966854 UCEC T A Missense p.V331D c.992T>A 19 18963815 AML T C 3-UTRSNV . c.3354+1706T>C 19 18978675 DLBCL T C Missense p.F929L c.2785T>C 19 18974988 RCCC T C Synonymous p.L780L c.2338T>C 19 18971672 CM T G Missense p.V690G c.2069T>G 19 18968229 CM