Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 234386116 234386116 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr2:234386116G>A c.3630C>T c.(3628-3630)atC>atT p.I1210I BLCA 2 234402138 234402138 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr2:234402138C>G c.2847G>C c.(2845-2847)gaG>gaC p.E949D BLCA 2 234402151 234402151 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr2:234402151G>A c.2834C>T c.(2833-2835)tCa>tTa p.S945L BLCA 2 234420381 234420381 + Missense_Mutation SNP G G A TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr2:234420381G>A c.2497C>T c.(2497-2499)Ctt>Ttt p.L833F BLCA 2 234429685 234429685 + Missense_Mutation SNP C C G TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr2:234429685C>G c.2274G>C c.(2272-2274)caG>caC p.Q758H BLCA 2 234436214 234436214 + Missense_Mutation SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr2:234436214C>G c.1561G>C c.(1561-1563)Gat>Cat p.D521H BLCA 2 234442316 234442316 + Missense_Mutation SNP T T G TCGA-E7-A6MF-01A-12D-A32B-08 TCGA-E7-A6MF-10B-01D-A329-08 g.chr2:234442316T>G c.1277A>C c.(1276-1278)cAg>cCg p.Q426P BLCA 2 234442405 234442405 + Missense_Mutation SNP C C G TCGA-UY-A78O-01A-12D-A339-08 TCGA-UY-A78O-10A-01D-A339-08 g.chr2:234442405C>G c.1188G>C c.(1186-1188)caG>caC p.Q396H BLCA 2 234460031 234460031 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr2:234460031A>G c.828T>C c.(826-828)ttT>ttC p.F276F BLCA 2 234465604 234465604 + Missense_Mutation SNP G G C TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr2:234465604G>C c.443C>G c.(442-444)tCt>tGt p.S148C BLCA 2 234465604 234465604 + Missense_Mutation SNP G G C TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr2:234465604G>C c.443C>G c.(442-444)tCt>tGt p.S148C BRCA 2 234428319 234428319 + Splice_Site SNP T T C TCGA-E2-A10E-01A-21D-A10M-09 TCGA-E2-A10E-10A-01D-A10M-09 g.chr2:234428319T>C c.e17-2 BRCA 2 234429703 234429703 + Missense_Mutation SNP G G T TCGA-A2-A25A-01A-12D-A16D-09 TCGA-A2-A25A-10A-01D-A16D-09 g.chr2:234429703G>T c.2256C>A c.(2254-2256)caC>caA p.H752Q BRCA 2 234431959 234431959 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:234431959A>C c.2055T>G c.(2053-2055)ggT>ggG p.G685G BRCA 2 234432035 234432035 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr2:234432035A>C c.1979T>G c.(1978-1980)gTg>gGg p.V660G BRCA 2 234433206 234433206 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:234433206C>T c.1810G>A c.(1810-1812)Gat>Aat p.D604N BRCA 2 234474155 234474155 + Missense_Mutation SNP T T G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr2:234474155T>G c.46A>C c.(46-48)Aat>Cat p.N16H CESC 2 234398105 234398105 + Missense_Mutation SNP C C G TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:234398105C>G c.3034G>C c.(3034-3036)Gag>Cag p.E1012Q CESC 2 234429677 234429677 + Missense_Mutation SNP G G C TCGA-HM-A3JK-01A-11D-A21Q-09 TCGA-HM-A3JK-10A-01D-A21Q-09 g.chr2:234429677G>C c.2282C>G c.(2281-2283)tCt>tGt p.S761C COAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs COAD 2 234394438 234394438 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234394438A>G c.3380T>C c.(3379-3381)tTc>tCc p.F1127S COAD 2 234394476 234394476 + Silent SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:234394476C>A c.3342G>T c.(3340-3342)gtG>gtT p.V1114V COAD 2 234394613 234394613 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:234394613C>T c.3205G>A c.(3205-3207)Gtg>Atg p.V1069M COAD 2 234405440 234405440 + Silent SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:234405440A>G c.2751T>C c.(2749-2751)gaT>gaC p.D917D COAD 2 234405463 234405463 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:234405463C>A c.2728G>T c.(2728-2730)Gaa>Taa p.E910* COAD 2 234407199 234407199 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:234407199C>A c.2707G>T c.(2707-2709)Gaa>Taa p.E903* COAD 2 234420362 234420362 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234420362G>A c.2516C>T c.(2515-2517)tCg>tTg p.S839L COAD 2 234420362 234420362 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234420362G>A c.2516C>T c.(2515-2517)tCg>tTg p.S839L COAD 2 234428278 234428278 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:234428278T>G c.2362A>C c.(2362-2364)Aaa>Caa p.K788Q COAD 2 234429692 234429692 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:234429692A>G c.2267T>C c.(2266-2268)tTa>tCa p.L756S COAD 2 234429693 234429693 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:234429693A>C c.2266T>G c.(2266-2268)Tta>Gta p.L756V COAD 2 234429742 234429742 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234429742C>A c.2217G>T c.(2215-2217)gaG>gaT p.E739D COAD 2 234431927 234431927 + Missense_Mutation SNP C C T TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr2:234431927C>T c.2087G>A c.(2086-2088)gGt>gAt p.G696D COAD 2 234432051 234432051 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:234432051C>A c.1963G>T c.(1963-1965)Gaa>Taa p.E655* COAD 2 234460072 234460072 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:234460072T>G c.787A>C c.(787-789)Agc>Cgc p.S263R COAD 2 234465661 234465661 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:234465661A>G c.386T>C c.(385-387)aTg>aCg p.M129T COADREAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs COADREAD 2 234394438 234394438 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234394438A>G c.3380T>C c.(3379-3381)tTc>tCc p.F1127S COADREAD 2 234394476 234394476 + Silent SNP C C A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr2:234394476C>A c.3342G>T c.(3340-3342)gtG>gtT p.V1114V COADREAD 2 234394613 234394613 + Missense_Mutation SNP C C T TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:234394613C>T c.3205G>A c.(3205-3207)Gtg>Atg p.V1069M COADREAD 2 234399874 234399874 + Missense_Mutation SNP A A C TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr2:234399874A>C c.2948T>G c.(2947-2949)cTc>cGc p.L983R COADREAD 2 234405440 234405440 + Silent SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:234405440A>G c.2751T>C c.(2749-2751)gaT>gaC p.D917D COADREAD 2 234405463 234405463 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:234405463C>A c.2728G>T c.(2728-2730)Gaa>Taa p.E910* COADREAD 2 234407199 234407199 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:234407199C>A c.2707G>T c.(2707-2709)Gaa>Taa p.E903* COADREAD 2 234420362 234420362 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234420362G>A c.2516C>T c.(2515-2517)tCg>tTg p.S839L COADREAD 2 234420362 234420362 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234420362G>A c.2516C>T c.(2515-2517)tCg>tTg p.S839L COADREAD 2 234428278 234428278 + Missense_Mutation SNP T T G TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr2:234428278T>G c.2362A>C c.(2362-2364)Aaa>Caa p.K788Q COADREAD 2 234429692 234429692 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:234429692A>G c.2267T>C c.(2266-2268)tTa>tCa p.L756S COADREAD 2 234429693 234429693 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:234429693A>C c.2266T>G c.(2266-2268)Tta>Gta p.L756V COADREAD 2 234429742 234429742 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234429742C>A c.2217G>T c.(2215-2217)gaG>gaT p.E739D COADREAD 2 234431927 234431927 + Missense_Mutation SNP C C T TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr2:234431927C>T c.2087G>A c.(2086-2088)gGt>gAt p.G696D COADREAD 2 234432051 234432051 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr2:234432051C>A c.1963G>T c.(1963-1965)Gaa>Taa p.E655* COADREAD 2 234460072 234460072 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:234460072T>G c.787A>C c.(787-789)Agc>Cgc p.S263R COADREAD 2 234465661 234465661 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:234465661A>G c.386T>C c.(385-387)aTg>aCg p.M129T DLBC 2 234398065 234398065 + Missense_Mutation SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr2:234398065G>A c.3074C>T c.(3073-3075)aCg>aTg p.T1025M DLBC 2 234429744 234429744 + Missense_Mutation SNP C C T TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr2:234429744C>T c.2215G>A c.(2215-2217)Gag>Aag p.E739K DLBC 2 234433190 234433190 + Missense_Mutation SNP C C G TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr2:234433190C>G c.1826G>C c.(1825-1827)tGt>tCt p.C609S DLBC 2 234442134 234442134 + Missense_Mutation SNP G G C TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr2:234442134G>C c.1459C>G c.(1459-1461)Ccc>Gcc p.P487A DLBC 2 234449358 234449358 + Missense_Mutation SNP C C G TCGA-G8-6907-01A-11D-2210-10 TCGA-G8-6907-14A-01D-2210-10 g.chr2:234449358C>G c.1117G>C c.(1117-1119)Gga>Cga p.G373R ESCA 2 234405457 234405457 + Silent SNP G G A TCGA-VR-A8EP-01A-31D-A403-09 TCGA-VR-A8EP-10B-01D-A403-09 g.chr2:234405457G>A c.2734C>T c.(2734-2736)Ctg>Ttg p.L912L ESCA 2 234429703 234429703 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr2:234429703G>T c.2256C>A c.(2254-2256)caC>caA p.H752Q ESCA 2 234429744 234429744 + Missense_Mutation SNP C C T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr2:234429744C>T c.2215G>A c.(2215-2217)Gag>Aag p.E739K ESCA 2 234438130 234438130 + Silent SNP T T C TCGA-JY-A93C-01A-11D-A387-09 TCGA-JY-A93C-10A-01D-A38A-09 g.chr2:234438130T>C c.1497A>G c.(1495-1497)ccA>ccG p.P499P ESCA 2 234474223 234474223 + 5'UTR DEL A A - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:234474223delA GBMLGG 2 234408535 234408535 + Silent SNP A A G TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr2:234408535A>G c.2637T>C c.(2635-2637)tcT>tcC p.S879S GBMLGG 2 234434186 234434186 + Missense_Mutation SNP T T C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr2:234434186T>C c.1745A>G c.(1744-1746)gAc>gGc p.D582G GBMLGG 2 234465531 234465534 + Frame_Shift_Del DEL ACAA ACAA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr2:234465531_234465534delACAA c.513_516delTTGT c.(511-516)gtttgtfs p.VC171fs HNSC 2 234402104 234402104 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:234402104A>G c.2881T>C c.(2881-2883)Tgg>Cgg p.W961R HNSC 2 234407258 234407258 + Splice_Site SNP C C T TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr2:234407258C>T c.2648G>A c.(2647-2649)gGa>gAa p.G883E HNSC 2 234457817 234457817 + Missense_Mutation SNP C C G TCGA-P3-A6T5-01A-11D-A34J-08 TCGA-P3-A6T5-10A-01D-A34M-08 g.chr2:234457817C>G c.896G>C c.(895-897)gGt>gCt p.G299A HNSC 2 234460155 234460155 + Nonsense_Mutation SNP A A C TCGA-CQ-6228-01A-11D-1912-08 TCGA-CQ-6228-10A-01D-1912-08 g.chr2:234460155A>C c.704T>G c.(703-705)tTa>tGa p.L235* HNSC 2 234465540 234465540 + Missense_Mutation SNP C C G TCGA-CV-6954-01A-11D-1912-08 TCGA-CV-6954-10A-01D-1912-08 g.chr2:234465540C>G c.507G>C c.(505-507)caG>caC p.Q169H HNSC 2 234465564 234465564 + Silent SNP C C A TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr2:234465564C>A c.483G>T c.(481-483)ctG>ctT p.L161L KIPAN 2 234429716 234429716 + Missense_Mutation SNP A A C TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr2:234429716A>C c.2243T>G c.(2242-2244)aTt>aGt p.I748S KIPAN 2 234431845 234431845 + Silent SNP A A G TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr2:234431845A>G c.2169T>C c.(2167-2169)atT>atC p.I723I KIPAN 2 234431973 234431973 + Missense_Mutation SNP C C T TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr2:234431973C>T c.2041G>A c.(2041-2043)Gca>Aca p.A681T KIPAN 2 234449396 234449396 + Missense_Mutation SNP G G T TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:234449396G>T c.1079C>A c.(1078-1080)cCt>cAt p.P360H KIPAN 2 234468567 234468567 + Nonsense_Mutation SNP G G A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr2:234468567G>A c.271C>T c.(271-273)Cga>Tga p.R91* KIRC 2 234429716 234429716 + Missense_Mutation SNP A A C TCGA-CJ-6033-01A-11D-1669-08 TCGA-CJ-6033-11A-01D-1669-08 g.chr2:234429716A>C c.2243T>G c.(2242-2244)aTt>aGt p.I748S KIRC 2 234431845 234431845 + Silent SNP A A G TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr2:234431845A>G c.2169T>C c.(2167-2169)atT>atC p.I723I KIRC 2 234431973 234431973 + Missense_Mutation SNP C C T TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr2:234431973C>T c.2041G>A c.(2041-2043)Gca>Aca p.A681T KIRC 2 234468567 234468567 + Nonsense_Mutation SNP G G A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr2:234468567G>A c.271C>T c.(271-273)Cga>Tga p.R91* KIRP 2 234449396 234449396 + Missense_Mutation SNP G G T TCGA-BQ-5885-01A-11D-1589-08 TCGA-BQ-5885-11A-01D-1589-08 g.chr2:234449396G>T c.1079C>A c.(1078-1080)cCt>cAt p.P360H LGG 2 234408535 234408535 + Silent SNP A A G TCGA-DU-A5TS-01A-11D-A289-08 TCGA-DU-A5TS-10A-01D-A289-08 g.chr2:234408535A>G c.2637T>C c.(2635-2637)tcT>tcC p.S879S LGG 2 234434186 234434186 + Missense_Mutation SNP T T C TCGA-P5-A5EV-01A-11D-A27K-08 TCGA-P5-A5EV-10A-01D-A27N-08 g.chr2:234434186T>C c.1745A>G c.(1744-1746)gAc>gGc p.D582G LGG 2 234465531 234465534 + Frame_Shift_Del DEL ACAA ACAA - TCGA-DH-A7UR-01A-11D-A33T-08 TCGA-DH-A7UR-10A-01D-A33W-08 g.chr2:234465531_234465534delACAA c.513_516delTTGT c.(511-516)gtttgtfs p.VC171fs LIHC 2 234394446 234394446 + Silent SNP G G A TCGA-BC-A110-01A-11D-A12Z-10 TCGA-BC-A110-11A-11D-A12Z-10 g.chr2:234394446G>A c.3372C>T c.(3370-3372)ccC>ccT p.P1124P LIHC 2 234394446 234394446 + Silent SNP G G A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr2:234394446G>A c.3372C>T c.(3370-3372)ccC>ccT p.P1124P LIHC 2 234394614 234394614 + Silent SNP G G A TCGA-DD-A11C-01A-11D-A12Z-10 TCGA-DD-A11C-11A-11D-A12Z-10 g.chr2:234394614G>A c.3204C>T c.(3202-3204)gaC>gaT p.D1068D LIHC 2 234399852 234399852 + Missense_Mutation SNP C C A TCGA-DD-AADG-01A-11D-A40R-10 TCGA-DD-AADG-10A-01D-A40U-10 g.chr2:234399852C>A c.2970G>T c.(2968-2970)gaG>gaT p.E990D LIHC 2 234402122 234402122 + Missense_Mutation SNP T T C TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr2:234402122T>C c.2863A>G c.(2863-2865)Acc>Gcc p.T955A LIHC 2 234436105 234436105 + Missense_Mutation SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr2:234436105A>G c.1670T>C c.(1669-1671)tTg>tCg p.L557S LIHC 2 234438104 234438104 + Missense_Mutation SNP G G T TCGA-G3-A5SJ-01A-11D-A27I-10 TCGA-G3-A5SJ-10A-01D-A27I-10 g.chr2:234438104G>T c.1523C>A c.(1522-1524)gCa>gAa p.A508E LIHC 2 234442150 234442150 + Silent SNP T T C TCGA-MI-A75C-01A-11D-A32G-10 TCGA-MI-A75C-10A-01D-A32G-10 g.chr2:234442150T>C c.1443A>G c.(1441-1443)aaA>aaG p.K481K LIHC 2 234465583 234465583 + Missense_Mutation SNP T T C TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr2:234465583T>C c.464A>G c.(463-465)cAt>cGt p.H155R LUAD 2 234394426 234394426 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr2:234394426G>T c.3392C>A c.(3391-3393)cCg>cAg p.P1131Q LUAD 2 234394527 234394527 + Silent SNP C C T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr2:234394527C>T c.3291G>A c.(3289-3291)ggG>ggA p.G1097G LUAD 2 234421213 234421213 + Splice_Site SNP A A G TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr2:234421213A>G c.e18+1 LUAD 2 234436080 234436080 + Silent SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 g.chr2:234436080T>C c.1695A>G c.(1693-1695)ttA>ttG p.L565L LUAD 2 234436148 234436148 + Missense_Mutation SNP C C A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr2:234436148C>A c.1627G>T c.(1627-1629)Gct>Tct p.A543S LUAD 2 234442344 234442344 + Missense_Mutation SNP C C A TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr2:234442344C>A c.1249G>T c.(1249-1251)Gct>Tct p.A417S LUAD 2 234460097 234460097 + Silent SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr2:234460097C>T c.762G>A c.(760-762)gtG>gtA p.V254V LUAD 2 234460105 234460105 + Missense_Mutation SNP C C T TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr2:234460105C>T c.754G>A c.(754-756)Gat>Aat p.D252N LUAD 2 234463045 234463045 + Missense_Mutation SNP C C T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:234463045C>T c.674G>A c.(673-675)aGg>aAg p.R225K LUAD 2 234463172 234463172 + Splice_Site SNP C C A TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr2:234463172C>A c.547G>T c.(547-549)Gaa>Taa p.E183* LUAD 2 234465641 234465641 + Missense_Mutation SNP C C G TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr2:234465641C>G c.406G>C c.(406-408)Gaa>Caa p.E136Q LUSC 2 234407258 234407258 + Splice_Site SNP C C A TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr2:234407258C>A c.2648G>T c.(2647-2649)gGa>gTa p.G883V LUSC 2 234449396 234449396 + Missense_Mutation SNP G G C TCGA-66-2782-01A-01D-1522-08 TCGA-66-2782-11A-01D-1522-08 g.chr2:234449396G>C c.1079C>G c.(1078-1080)cCt>cGt p.P360R LUSC 2 234468512 234468512 + Missense_Mutation SNP T T C TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr2:234468512T>C c.326A>G c.(325-327)cAg>cGg p.Q109R OV 2 234431861 234431861 + Missense_Mutation SNP C C G TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr2:234431861C>G c.2153G>C c.(2152-2154)aGa>aCa p.R718T OV 2 234433176 234433176 + Missense_Mutation SNP C C A TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 g.chr2:234433176C>A c.1840G>T c.(1840-1842)Gct>Tct p.A614S PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-2J-AABE-01A-12D-A40W-08 TCGA-2J-AABE-10A-01D-A40W-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ2-01A-31D-A40W-08 TCGA-FB-AAQ2-11A-11D-A40W-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-HV-AA8X-01A-11D-A397-08 TCGA-HV-AA8X-10A-01D-A39A-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-IB-AAUU-01A-11D-A377-08 TCGA-IB-AAUU-10A-01D-A37A-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-XD-AAUG-01A-61D-A40W-08 TCGA-XD-AAUG-10A-01D-A40W-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr2:234394236_234394237insT c.3441_3442insA c.(3439-3444)aaacaafs p.Q1148fs PAAD 2 234407224 234407224 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:234407224G>T c.2682C>A c.(2680-2682)tgC>tgA p.C894* PAAD 2 234436099 234436099 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:234436099A>C c.1676T>G c.(1675-1677)tTt>tGt p.F559C PRAD 2 234434124 234434124 + Splice_Site SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 g.chr2:234434124C>T c.1807G>A c.(1807-1809)Ggg>Agg p.G603R READ 2 234399874 234399874 + Missense_Mutation SNP A A C TCGA-F5-6464-01A-11D-1733-10 TCGA-F5-6464-10A-01D-1733-10 g.chr2:234399874A>C c.2948T>G c.(2947-2949)cTc>cGc p.L983R SARC 2 234442285 234442285 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr2:234442285G>A c.1308C>T c.(1306-1308)tcC>tcT p.S436S SKCM 2 234386139 234386139 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr2:234386139G>A c.3607C>T c.(3607-3609)Ctc>Ttc p.L1203F SKCM 2 234386140 234386140 + Silent SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr2:234386140G>A c.3606C>T c.(3604-3606)gcC>gcT p.A1202A SKCM 2 234394515 234394515 + Silent SNP G G A TCGA-GN-A4U7-06A-21D-A32N-08 TCGA-GN-A4U7-10B-01D-A32N-08 g.chr2:234394515G>A c.3303C>T c.(3301-3303)tcC>tcT p.S1101S SKCM 2 234402079 234402079 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr2:234402079G>A c.2906C>T c.(2905-2907)tCc>tTc p.S969F SKCM 2 234402154 234402154 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr2:234402154G>A c.2831C>T c.(2830-2832)cCc>cTc p.P944L SKCM 2 234402154 234402154 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:234402154G>A c.2831C>T c.(2830-2832)cCc>cTc p.P944L SKCM 2 234402155 234402155 + Missense_Mutation SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:234402155G>A c.2830C>T c.(2830-2832)Ccc>Tcc p.P944S SKCM 2 234431968 234431968 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:234431968G>A c.2046C>T c.(2044-2046)atC>atT p.I682I SKCM 2 234434202 234434202 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr2:234434202C>T c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K SKCM 2 234442224 234442224 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:234442224G>A c.1369C>T c.(1369-1371)Cag>Tag p.Q457* SKCM 2 234442296 234442296 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr2:234442296G>A c.1297C>T c.(1297-1299)Cct>Tct p.P433S SKCM 2 234442325 234442325 + Missense_Mutation SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:234442325C>T c.1268G>A c.(1267-1269)aGg>aAg p.R423K SKCM 2 234460057 234460057 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr2:234460057G>A c.802C>T c.(802-804)Cct>Tct p.P268S SKCM 2 234460143 234460143 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:234460143G>A c.716C>T c.(715-717)cCt>cTt p.P239L SKCM 2 234465579 234465579 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr2:234465579G>A c.468C>T c.(466-468)gaC>gaT p.D156D SKCM 2 234465632 234465632 + Nonsense_Mutation SNP G G A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 g.chr2:234465632G>A c.415C>T c.(415-417)Cga>Tga p.R139* SKCM 2 234468559 234468559 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:234468559G>A c.279C>T c.(277-279)atC>atT p.I93I

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 2 234463064 234463064 single base substitution G A downstream_gene_variant BLCA-CN 2 234463064 234463064 single base substitution G A exon_variant BLCA-CN 2 234463064 234463064 single base substitution G A missense_variant H219Y 655C>T BLCA-CN 2 234463064 234463064 single base substitution G A missense_variant H231Y 691C>T BLCA-US 2 234386116 234386116 single base substitution G A downstream_gene_variant BLCA-US 2 234386116 234386116 single base substitution G A exon_variant BLCA-US 2 234386116 234386116 single base substitution G A synonymous_variant I1210I 3630C>T BLCA-US 2 234386116 234386116 single base substitution G A synonymous_variant I1222I 3666C>T BLCA-US 2 234429685 234429685 single base substitution C G downstream_gene_variant BLCA-US 2 234429685 234429685 single base substitution C G missense_variant Q53H 159G>C BLCA-US 2 234429685 234429685 single base substitution C G missense_variant Q758H 2274G>C BLCA-US 2 234429685 234429685 single base substitution C G missense_variant Q770H 2310G>C BLCA-US 2 234460031 234460031 single base substitution A G downstream_gene_variant BLCA-US 2 234460031 234460031 single base substitution A G synonymous_variant F276F 828T>C BLCA-US 2 234460031 234460031 single base substitution A G synonymous_variant F288F 864T>C BLCA-US 2 234465604 234465604 single base substitution G C downstream_gene_variant BLCA-US 2 234465604 234465604 single base substitution G C exon_variant BLCA-US 2 234465604 234465604 single base substitution G C missense_variant S148C 443C>G BLCA-US 2 234465604 234465604 single base substitution G C missense_variant S160C 479C>G BOCA-FR 2 234383072 234383072 single base substitution C T downstream_gene_variant BOCA-FR 2 234393003 234393003 single base substitution C T downstream_gene_variant BOCA-FR 2 234393003 234393003 single base substitution C T intron_variant BOCA-FR 2 234393003 234393003 single base substitution C T upstream_gene_variant BOCA-FR 2 234400530 234400530 single base substitution T A downstream_gene_variant BOCA-FR 2 234400530 234400530 single base substitution T A intron_variant BOCA-FR 2 234400530 234400530 single base substitution T A upstream_gene_variant BRCA-EU 2 234379704 234379704 single base substitution C T downstream_gene_variant BRCA-EU 2 234380554 234380554 single base substitution C G downstream_gene_variant BRCA-EU 2 234380931 234380931 single base substitution C T downstream_gene_variant BRCA-EU 2 234382545 234382545 single base substitution C T downstream_gene_variant BRCA-EU 2 234383655 234383655 single base substitution C T downstream_gene_variant BRCA-EU 2 234384235 234384235 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 234384235 234384235 single base substitution A T downstream_gene_variant BRCA-EU 2 234384235 234384235 single base substitution A T exon_variant BRCA-EU 2 234385508 234385508 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 234385508 234385508 single base substitution C T downstream_gene_variant BRCA-EU 2 234385508 234385508 single base substitution C T exon_variant BRCA-EU 2 234385567 234385567 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 234385567 234385567 single base substitution C T downstream_gene_variant BRCA-EU 2 234385567 234385567 single base substitution C T exon_variant BRCA-EU 2 234387274 234387274 single base substitution G C downstream_gene_variant BRCA-EU 2 234387274 234387274 single base substitution G C intron_variant BRCA-EU 2 234387740 234387740 single base substitution C T downstream_gene_variant BRCA-EU 2 234387740 234387740 single base substitution C T intron_variant BRCA-EU 2 234391305 234391305 single base substitution C T downstream_gene_variant BRCA-EU 2 234391305 234391305 single base substitution C T intron_variant BRCA-EU 2 234391305 234391305 single base substitution C T upstream_gene_variant BRCA-EU 2 234395423 234395423 single base substitution G C downstream_gene_variant BRCA-EU 2 234395423 234395423 single base substitution G C intron_variant BRCA-EU 2 234395477 234395477 single base substitution T A downstream_gene_variant BRCA-EU 2 234395477 234395477 single base substitution T A intron_variant BRCA-EU 2 234397465 234397465 single base substitution T A downstream_gene_variant BRCA-EU 2 234397465 234397465 single base substitution T A intron_variant BRCA-EU 2 234399981 234399981 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 234399981 234399981 deletion of <=200bp T - exon_variant BRCA-EU 2 234399981 234399981 deletion of <=200bp T - intron_variant BRCA-EU 2 234399981 234399981 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 234401560 234401560 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 234401560 234401560 single base substitution G T downstream_gene_variant BRCA-EU 2 234401560 234401560 single base substitution G T intron_variant BRCA-EU 2 234401560 234401560 single base substitution G T upstream_gene_variant BRCA-EU 2 234402731 234402731 single base substitution C G downstream_gene_variant BRCA-EU 2 234402731 234402731 single base substitution C G intron_variant BRCA-EU 2 234402731 234402731 single base substitution C G upstream_gene_variant BRCA-EU 2 234402785 234402785 single base substitution A T downstream_gene_variant BRCA-EU 2 234402785 234402785 single base substitution A T intron_variant BRCA-EU 2 234402785 234402785 single base substitution A T upstream_gene_variant BRCA-EU 2 234404589 234404589 single base substitution C T downstream_gene_variant BRCA-EU 2 234404589 234404589 single base substitution C T intron_variant BRCA-EU 2 234404589 234404589 single base substitution C T upstream_gene_variant BRCA-EU 2 234405748 234405748 single base substitution A T intron_variant BRCA-EU 2 234405748 234405748 single base substitution A T upstream_gene_variant BRCA-EU 2 234407304 234407304 single base substitution G A intron_variant BRCA-EU 2 234408314 234408314 single base substitution C T intron_variant BRCA-EU 2 234408536 234408536 single base substitution G T exon_variant BRCA-EU 2 234408536 234408536 single base substitution G T missense_variant S54Y 161C>A BRCA-EU 2 234408536 234408536 single base substitution G T missense_variant S55Y 164C>A BRCA-EU 2 234408536 234408536 single base substitution G T missense_variant S879Y 2636C>A BRCA-EU 2 234408536 234408536 single base substitution G T missense_variant S891Y 2672C>A BRCA-EU 2 234409255 234409255 deletion of <=200bp A - intron_variant BRCA-EU 2 234411071 234411071 single base substitution C T intron_variant BRCA-EU 2 234411572 234411572 single base substitution C T intron_variant BRCA-EU 2 234412752 234412752 single base substitution G A intron_variant BRCA-EU 2 234412772 234412772 single base substitution C G intron_variant BRCA-EU 2 234414363 234414363 single base substitution C T intron_variant BRCA-EU 2 234414666 234414666 deletion of <=200bp A - intron_variant BRCA-EU 2 234415126 234415126 single base substitution G T intron_variant BRCA-EU 2 234415624 234415624 deletion of <=200bp A - intron_variant BRCA-EU 2 234416034 234416034 single base substitution C T intron_variant BRCA-EU 2 234416055 234416055 single base substitution T C intron_variant BRCA-EU 2 234420409 234420409 single base substitution C T 5_prime_UTR_variant BRCA-EU 2 234420409 234420409 single base substitution C T exon_variant BRCA-EU 2 234420409 234420409 single base substitution C T synonymous_variant L823L 2469G>A BRCA-EU 2 234420409 234420409 single base substitution C T synonymous_variant L835L 2505G>A BRCA-EU 2 234420409 234420409 single base substitution C T upstream_gene_variant BRCA-EU 2 234420706 234420706 single base substitution A T 5_prime_UTR_variant BRCA-EU 2 234420706 234420706 single base substitution A T intron_variant BRCA-EU 2 234420706 234420706 single base substitution A T upstream_gene_variant BRCA-EU 2 234423254 234423254 single base substitution A T downstream_gene_variant BRCA-EU 2 234423254 234423254 single base substitution A T intron_variant BRCA-EU 2 234423254 234423254 single base substitution A T upstream_gene_variant BRCA-EU 2 234424377 234424377 single base substitution G C downstream_gene_variant BRCA-EU 2 234424377 234424377 single base substitution G C intron_variant BRCA-EU 2 234424377 234424377 single base substitution G C upstream_gene_variant BRCA-EU 2 234426062 234426062 single base substitution G A downstream_gene_variant BRCA-EU 2 234426062 234426062 single base substitution G A intron_variant BRCA-EU 2 234426062 234426062 single base substitution G A upstream_gene_variant BRCA-EU 2 234426167 234426167 single base substitution A C downstream_gene_variant BRCA-EU 2 234426167 234426167 single base substitution A C intron_variant BRCA-EU 2 234426167 234426167 single base substitution A C upstream_gene_variant BRCA-EU 2 234427391 234427391 single base substitution C G downstream_gene_variant BRCA-EU 2 234427391 234427391 single base substitution C G intron_variant BRCA-EU 2 234428260 234428260 single base substitution C A missense_variant A794S 2380G>T BRCA-EU 2 234428260 234428260 single base substitution C A missense_variant A806S 2416G>T BRCA-EU 2 234428260 234428260 single base substitution C A missense_variant G89C 265G>T BRCA-EU 2 234430425 234430425 single base substitution A C downstream_gene_variant BRCA-EU 2 234430425 234430425 single base substitution A C intron_variant BRCA-EU 2 234430592 234430592 single base substitution C G downstream_gene_variant BRCA-EU 2 234430592 234430592 single base substitution C G intron_variant BRCA-EU 2 234432785 234432785 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 234432785 234432785 deletion of <=200bp T - intron_variant BRCA-EU 2 234432785 234432785 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 234436618 234436618 single base substitution C G intron_variant BRCA-EU 2 234436618 234436618 single base substitution C G upstream_gene_variant BRCA-EU 2 234436858 234436858 single base substitution C T intron_variant BRCA-EU 2 234436858 234436858 single base substitution C T upstream_gene_variant BRCA-EU 2 234441883 234441883 single base substitution G A intron_variant BRCA-EU 2 234441901 234441901 single base substitution T A intron_variant BRCA-EU 2 234443002 234443002 single base substitution C G intron_variant BRCA-EU 2 234443095 234443095 single base substitution C G intron_variant BRCA-EU 2 234443187 234443187 single base substitution A G intron_variant BRCA-EU 2 234443443 234443443 single base substitution C G intron_variant BRCA-EU 2 234443681 234443681 single base substitution C T intron_variant BRCA-EU 2 234444054 234444054 single base substitution C T intron_variant BRCA-EU 2 234445846 234445846 single base substitution G A intron_variant BRCA-EU 2 234446360 234446360 single base substitution C G intron_variant BRCA-EU 2 234447116 234447116 single base substitution C A intron_variant BRCA-EU 2 234451214 234451214 single base substitution G A exon_variant BRCA-EU 2 234451214 234451214 single base substitution G A intron_variant BRCA-EU 2 234451215 234451215 single base substitution C T exon_variant BRCA-EU 2 234451215 234451215 single base substitution C T intron_variant BRCA-EU 2 234452167 234452167 single base substitution C A intron_variant BRCA-EU 2 234452167 234452167 single base substitution C A upstream_gene_variant BRCA-EU 2 234452186 234452186 single base substitution G A intron_variant BRCA-EU 2 234452186 234452186 single base substitution G A upstream_gene_variant BRCA-EU 2 234454303 234454303 single base substitution G C intron_variant BRCA-EU 2 234454303 234454303 single base substitution G C upstream_gene_variant BRCA-EU 2 234459602 234459602 single base substitution T C downstream_gene_variant BRCA-EU 2 234459602 234459602 single base substitution T C intron_variant BRCA-EU 2 234460035 234460035 single base substitution G C downstream_gene_variant BRCA-EU 2 234460035 234460035 single base substitution G C missense_variant P275R 824C>G BRCA-EU 2 234460035 234460035 single base substitution G C missense_variant P287R 860C>G BRCA-EU 2 234460356 234460356 single base substitution C G downstream_gene_variant BRCA-EU 2 234460356 234460356 single base substitution C G intron_variant BRCA-EU 2 234460785 234460785 single base substitution C T downstream_gene_variant BRCA-EU 2 234460785 234460785 single base substitution C T intron_variant BRCA-EU 2 234461033 234461034 deletion of <=200bp AT - downstream_gene_variant BRCA-EU 2 234461033 234461034 deletion of <=200bp AT - intron_variant BRCA-EU 2 234462130 234462130 single base substitution C G downstream_gene_variant BRCA-EU 2 234462130 234462130 single base substitution C G intron_variant BRCA-EU 2 234462531 234462531 single base substitution C T downstream_gene_variant BRCA-EU 2 234462531 234462531 single base substitution C T intron_variant BRCA-EU 2 234463093 234463093 single base substitution T G downstream_gene_variant BRCA-EU 2 234463093 234463093 single base substitution T G exon_variant BRCA-EU 2 234463093 234463093 single base substitution T G missense_variant E209A 626A>C BRCA-EU 2 234463093 234463093 single base substitution T G missense_variant E221A 662A>C BRCA-EU 2 234465289 234465289 single base substitution G C downstream_gene_variant BRCA-EU 2 234465289 234465289 single base substitution G C exon_variant BRCA-EU 2 234465289 234465289 single base substitution G C intron_variant BRCA-EU 2 234466925 234466925 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 234466925 234466925 deletion of <=200bp A - intron_variant BRCA-EU 2 234467432 234467432 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 234467432 234467432 insertion of <=200bp - T intron_variant BRCA-EU 2 234468668 234468668 single base substitution C A downstream_gene_variant BRCA-EU 2 234468668 234468668 single base substitution C A intron_variant BRCA-EU 2 234469187 234469187 single base substitution G C downstream_gene_variant BRCA-EU 2 234469187 234469187 single base substitution G C intron_variant BRCA-EU 2 234471645 234471645 single base substitution C G intron_variant BRCA-EU 2 234471870 234471870 deletion of <=200bp T - intron_variant BRCA-EU 2 234473544 234473544 single base substitution T G intron_variant BRCA-EU 2 234474034 234474034 single base substitution A G exon_variant BRCA-EU 2 234474034 234474034 single base substitution A G missense_variant L56P 167T>C BRCA-EU 2 234474034 234474034 single base substitution A G missense_variant L68P 203T>C BRCA-EU 2 234475585 234475585 single base substitution G C upstream_gene_variant BRCA-EU 2 234475586 234475586 single base substitution G T upstream_gene_variant BRCA-EU 2 234477522 234477522 single base substitution C G upstream_gene_variant BRCA-EU 2 234477913 234477913 single base substitution G A upstream_gene_variant BRCA-EU 2 234478619 234478619 single base substitution C T upstream_gene_variant BRCA-EU 2 234478627 234478627 single base substitution T C upstream_gene_variant BRCA-EU 2 234479177 234479177 single base substitution C G upstream_gene_variant BRCA-FR 2 234391305 234391305 single base substitution C T downstream_gene_variant BRCA-FR 2 234391305 234391305 single base substitution C T intron_variant BRCA-FR 2 234391305 234391305 single base substitution C T upstream_gene_variant BRCA-FR 2 234400560 234400560 single base substitution T C downstream_gene_variant BRCA-FR 2 234400560 234400560 single base substitution T C intron_variant BRCA-FR 2 234400560 234400560 single base substitution T C upstream_gene_variant BRCA-FR 2 234407304 234407304 single base substitution G A intron_variant BRCA-FR 2 234408314 234408314 single base substitution C T intron_variant BRCA-FR 2 234412772 234412772 single base substitution C G intron_variant BRCA-FR 2 234417220 234417220 single base substitution G C intron_variant BRCA-FR 2 234418253 234418253 single base substitution G A intron_variant BRCA-FR 2 234427391 234427391 single base substitution C G downstream_gene_variant BRCA-FR 2 234427391 234427391 single base substitution C G intron_variant BRCA-FR 2 234430425 234430425 single base substitution A C downstream_gene_variant BRCA-FR 2 234430425 234430425 single base substitution A C intron_variant BRCA-FR 2 234436618 234436618 single base substitution C G intron_variant BRCA-FR 2 234436618 234436618 single base substitution C G upstream_gene_variant BRCA-FR 2 234436858 234436858 single base substitution C T intron_variant BRCA-FR 2 234436858 234436858 single base substitution C T upstream_gene_variant BRCA-FR 2 234437157 234437157 single base substitution C G intron_variant BRCA-FR 2 234441561 234441561 single base substitution T A intron_variant BRCA-FR 2 234443002 234443002 single base substitution C G intron_variant BRCA-FR 2 234443827 234443827 single base substitution C T intron_variant BRCA-FR 2 234444054 234444054 single base substitution C T intron_variant BRCA-FR 2 234451215 234451215 single base substitution C T exon_variant BRCA-FR 2 234451215 234451215 single base substitution C T intron_variant BRCA-FR 2 234457014 234457014 single base substitution T C intron_variant BRCA-FR 2 234459336 234459336 single base substitution C T downstream_gene_variant BRCA-FR 2 234459336 234459336 single base substitution C T intron_variant BRCA-FR 2 234460356 234460356 single base substitution C G downstream_gene_variant BRCA-FR 2 234460356 234460356 single base substitution C G intron_variant BRCA-FR 2 234462130 234462130 single base substitution C G downstream_gene_variant BRCA-FR 2 234462130 234462130 single base substitution C G intron_variant BRCA-FR 2 234470371 234470371 single base substitution A C intron_variant BRCA-UK 2 234441043 234441043 single base substitution C G intron_variant BRCA-UK 2 234468668 234468668 single base substitution C A downstream_gene_variant BRCA-UK 2 234468668 234468668 single base substitution C A intron_variant BRCA-UK 2 234471837 234471837 single base substitution G T intron_variant BRCA-UK 2 234471933 234471933 single base substitution C G intron_variant BRCA-US 2 234428319 234428319 single base substitution T C splice_acceptor_variant BRCA-US 2 234429703 234429703 single base substitution G T downstream_gene_variant BRCA-US 2 234429703 234429703 single base substitution G T missense_variant H47Q 141C>A BRCA-US 2 234429703 234429703 single base substitution G T missense_variant H752Q 2256C>A BRCA-US 2 234429703 234429703 single base substitution G T missense_variant H764Q 2292C>A BRCA-US 2 234431959 234431959 single base substitution A C downstream_gene_variant BRCA-US 2 234431959 234431959 single base substitution A C synonymous_variant G685G 2055T>G BRCA-US 2 234431959 234431959 single base substitution A C synonymous_variant G697G 2091T>G BRCA-US 2 234431959 234431959 single base substitution A C upstream_gene_variant BRCA-US 2 234432035 234432035 single base substitution A C downstream_gene_variant BRCA-US 2 234432035 234432035 single base substitution A C missense_variant V660G 1979T>G BRCA-US 2 234432035 234432035 single base substitution A C missense_variant V672G 2015T>G BRCA-US 2 234432035 234432035 single base substitution A C upstream_gene_variant BRCA-US 2 234433206 234433206 single base substitution C T downstream_gene_variant BRCA-US 2 234433206 234433206 single base substitution C T missense_variant D604N 1810G>A BRCA-US 2 234433206 234433206 single base substitution C T missense_variant D616N 1846G>A BRCA-US 2 234433206 234433206 single base substitution C T upstream_gene_variant BRCA-US 2 234474155 234474155 single base substitution T G exon_variant BRCA-US 2 234474155 234474155 single base substitution T G missense_variant N16H 46A>C BRCA-US 2 234474155 234474155 single base substitution T G missense_variant N28H 82A>C BTCA-JP 2 234394237 234394237 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 2 234394237 234394237 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 234394237 234394237 deletion of <=200bp T - exon_variant BTCA-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K114 BTCA-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1147 BTCA-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1159 BTCA-JP 2 234394237 234394237 deletion of <=200bp T - upstream_gene_variant BTCA-JP 2 234394470 234394470 single base substitution C G 3_prime_UTR_variant BTCA-JP 2 234394470 234394470 single base substitution C G downstream_gene_variant BTCA-JP 2 234394470 234394470 single base substitution C G exon_variant BTCA-JP 2 234394470 234394470 single base substitution C G missense_variant K1116N 3348G>C BTCA-JP 2 234394470 234394470 single base substitution C G missense_variant K1128N 3384G>C BTCA-JP 2 234394470 234394470 single base substitution C G missense_variant K83N 249G>C BTCA-JP 2 234394470 234394470 single base substitution C G upstream_gene_variant BTCA-JP 2 234397007 234397007 deletion of <=200bp T - downstream_gene_variant BTCA-JP 2 234397007 234397007 deletion of <=200bp T - intron_variant BTCA-JP 2 234421300 234421300 single base substitution A T exon_variant BTCA-JP 2 234421300 234421300 single base substitution A T intron_variant BTCA-JP 2 234421300 234421300 single base substitution A T upstream_gene_variant BTCA-JP 2 234421301 234421301 single base substitution G A exon_variant BTCA-JP 2 234421301 234421301 single base substitution G A intron_variant BTCA-JP 2 234421301 234421301 single base substitution G A upstream_gene_variant BTCA-JP 2 234428318 234428318 single base substitution C A splice_acceptor_variant BTCA-JP 2 234429875 234429875 single base substitution G A downstream_gene_variant BTCA-JP 2 234429875 234429875 single base substitution G A intron_variant BTCA-JP 2 234432004 234432004 single base substitution A C downstream_gene_variant BTCA-JP 2 234432004 234432004 single base substitution A C missense_variant N670K 2010T>G BTCA-JP 2 234432004 234432004 single base substitution A C missense_variant N682K 2046T>G BTCA-JP 2 234432004 234432004 single base substitution A C upstream_gene_variant BTCA-JP 2 234465516 234465516 single base substitution G A downstream_gene_variant BTCA-JP 2 234465516 234465516 single base substitution G A exon_variant BTCA-JP 2 234465516 234465516 single base substitution G A synonymous_variant N177N 531C>T BTCA-JP 2 234465516 234465516 single base substitution G A synonymous_variant N189N 567C>T BTCA-JP 2 234469875 234469875 single base substitution T C intron_variant CESC-US 2 234398105 234398105 single base substitution C G downstream_gene_variant CESC-US 2 234398105 234398105 single base substitution C G exon_variant CESC-US 2 234398105 234398105 single base substitution C G missense_variant E1012Q 3034G>C CESC-US 2 234398105 234398105 single base substitution C G missense_variant E1024Q 3070G>C CESC-US 2 234398105 234398105 single base substitution C G missense_variant E187Q 559G>C CESC-US 2 234398105 234398105 single base substitution C G missense_variant E1Q 1G>C CESC-US 2 234429677 234429677 single base substitution G C downstream_gene_variant CESC-US 2 234429677 234429677 single base substitution G C missense_variant S56C 167C>G CESC-US 2 234429677 234429677 single base substitution G C missense_variant S761C 2282C>G CESC-US 2 234429677 234429677 single base substitution G C missense_variant S773C 2318C>G CESC-US 2 234429739 234429739 insertion of <=200bp - TTC downstream_gene_variant CESC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K35KE CESC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K740KE CESC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K752KE CLLE-ES 2 234447727 234447727 single base substitution A G intron_variant CLLE-ES 2 234462248 234462248 single base substitution A G downstream_gene_variant CLLE-ES 2 234462248 234462248 single base substitution A G intron_variant COAD-US 2 234386134 234386134 single base substitution A G downstream_gene_variant COAD-US 2 234386134 234386134 single base substitution A G exon_variant COAD-US 2 234386134 234386134 single base substitution A G synonymous_variant H1204H 3612T>C COAD-US 2 234386134 234386134 single base substitution A G synonymous_variant H1216H 3648T>C COAD-US 2 234394236 234394236 insertion of <=200bp - T 3_prime_UTR_variant COAD-US 2 234394236 234394236 insertion of <=200bp - T downstream_gene_variant COAD-US 2 234394236 234394236 insertion of <=200bp - T exon_variant COAD-US 2 234394236 234394236 insertion of <=200bp - T frameshift_variant Q1148Q? COAD-US 2 234394236 234394236 insertion of <=200bp - T frameshift_variant Q115Q? COAD-US 2 234394236 234394236 insertion of <=200bp - T frameshift_variant Q1160Q? COAD-US 2 234394236 234394236 insertion of <=200bp - T upstream_gene_variant COAD-US 2 234394476 234394476 single base substitution C A 3_prime_UTR_variant COAD-US 2 234394476 234394476 single base substitution C A downstream_gene_variant COAD-US 2 234394476 234394476 single base substitution C A exon_variant COAD-US 2 234394476 234394476 single base substitution C A synonymous_variant V1114V 3342G>T COAD-US 2 234394476 234394476 single base substitution C A synonymous_variant V1126V 3378G>T COAD-US 2 234394476 234394476 single base substitution C A synonymous_variant V81V 243G>T COAD-US 2 234394476 234394476 single base substitution C A upstream_gene_variant COAD-US 2 234394487 234394487 single base substitution G A 3_prime_UTR_variant COAD-US 2 234394487 234394487 single base substitution G A downstream_gene_variant COAD-US 2 234394487 234394487 single base substitution G A exon_variant COAD-US 2 234394487 234394487 single base substitution G A missense_variant R1111C 3331C>T COAD-US 2 234394487 234394487 single base substitution G A missense_variant R1123C 3367C>T COAD-US 2 234394487 234394487 single base substitution G A missense_variant R78C 232C>T COAD-US 2 234394487 234394487 single base substitution G A upstream_gene_variant COAD-US 2 234394569 234394569 single base substitution A G 3_prime_UTR_variant COAD-US 2 234394569 234394569 single base substitution A G downstream_gene_variant COAD-US 2 234394569 234394569 single base substitution A G exon_variant COAD-US 2 234394569 234394569 single base substitution A G synonymous_variant Y1083Y 3249T>C COAD-US 2 234394569 234394569 single base substitution A G synonymous_variant Y1095Y 3285T>C COAD-US 2 234394569 234394569 single base substitution A G synonymous_variant Y50Y 150T>C COAD-US 2 234394569 234394569 single base substitution A G upstream_gene_variant COAD-US 2 234394613 234394613 single base substitution C T 3_prime_UTR_variant COAD-US 2 234394613 234394613 single base substitution C T downstream_gene_variant COAD-US 2 234394613 234394613 single base substitution C T exon_variant COAD-US 2 234394613 234394613 single base substitution C T missense_variant V1069M 3205G>A COAD-US 2 234394613 234394613 single base substitution C T missense_variant V1081M 3241G>A COAD-US 2 234394613 234394613 single base substitution C T missense_variant V36M 106G>A COAD-US 2 234394613 234394613 single base substitution C T upstream_gene_variant COAD-US 2 234405463 234405463 single base substitution C A exon_variant COAD-US 2 234405463 234405463 single base substitution C A stop_gained E85* 253G>T COAD-US 2 234405463 234405463 single base substitution C A stop_gained E86* 256G>T COAD-US 2 234405463 234405463 single base substitution C A stop_gained E910* 2728G>T COAD-US 2 234405463 234405463 single base substitution C A stop_gained E922* 2764G>T COAD-US 2 234405463 234405463 single base substitution C A upstream_gene_variant COAD-US 2 234429693 234429693 single base substitution A C downstream_gene_variant COAD-US 2 234429693 234429693 single base substitution A C missense_variant L51V 151T>G COAD-US 2 234429693 234429693 single base substitution A C missense_variant L756V 2266T>G COAD-US 2 234429693 234429693 single base substitution A C missense_variant L768V 2302T>G COAD-US 2 234429739 234429739 insertion of <=200bp - TTC downstream_gene_variant COAD-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K35KE COAD-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K740KE COAD-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K752KE COAD-US 2 234432017 234432017 single base substitution A G downstream_gene_variant COAD-US 2 234432017 234432017 single base substitution A G missense_variant V666A 1997T>C COAD-US 2 234432017 234432017 single base substitution A G missense_variant V678A 2033T>C COAD-US 2 234432017 234432017 single base substitution A G upstream_gene_variant COAD-US 2 234432051 234432051 single base substitution C A downstream_gene_variant COAD-US 2 234432051 234432051 single base substitution C A stop_gained E655* 1963G>T COAD-US 2 234432051 234432051 single base substitution C A stop_gained E667* 1999G>T COAD-US 2 234432051 234432051 single base substitution C A upstream_gene_variant COAD-US 2 234465661 234465661 single base substitution A G downstream_gene_variant COAD-US 2 234465661 234465661 single base substitution A G exon_variant COAD-US 2 234465661 234465661 single base substitution A G missense_variant M129T 386T>C COAD-US 2 234465661 234465661 single base substitution A G missense_variant M141T 422T>C COCA-CN 2 234390045 234390045 single base substitution G A downstream_gene_variant COCA-CN 2 234390045 234390045 single base substitution G A intron_variant COCA-CN 2 234399655 234399655 single base substitution G A downstream_gene_variant COCA-CN 2 234399655 234399655 single base substitution G A intron_variant COCA-CN 2 234399655 234399655 single base substitution G A upstream_gene_variant COCA-CN 2 234402202 234402202 single base substitution A C downstream_gene_variant COCA-CN 2 234402202 234402202 single base substitution A C intron_variant COCA-CN 2 234402202 234402202 single base substitution A C splice_region_variant COCA-CN 2 234402202 234402202 single base substitution A C upstream_gene_variant COCA-CN 2 234431792 234431792 single base substitution C A downstream_gene_variant COCA-CN 2 234431792 234431792 single base substitution C A intron_variant COCA-CN 2 234437976 234437976 single base substitution A T intron_variant COCA-CN 2 234442044 234442044 single base substitution G T intron_variant COCA-CN 2 234459996 234459996 single base substitution G T downstream_gene_variant COCA-CN 2 234459996 234459996 single base substitution G T intron_variant COCA-CN 2 234465436 234465436 single base substitution A G downstream_gene_variant COCA-CN 2 234465436 234465436 single base substitution A G exon_variant COCA-CN 2 234465436 234465436 single base substitution A G intron_variant COCA-CN 2 234465632 234465632 single base substitution G A downstream_gene_variant COCA-CN 2 234465632 234465632 single base substitution G A exon_variant COCA-CN 2 234465632 234465632 single base substitution G A stop_gained R139* 415C>T COCA-CN 2 234465632 234465632 single base substitution G A stop_gained R151* 451C>T COCA-CN 2 234465740 234465740 single base substitution C A downstream_gene_variant COCA-CN 2 234465740 234465740 single base substitution C A intron_variant COCA-CN 2 234469664 234469664 single base substitution T C intron_variant COCA-CN 2 234469664 234469664 single base substitution T C missense_variant I95V 283A>G EOPC-DE 2 234479394 234479394 single base substitution T A upstream_gene_variant ESAD-UK 2 234381347 234381347 single base substitution G A downstream_gene_variant ESAD-UK 2 234383036 234383036 single base substitution C T downstream_gene_variant ESAD-UK 2 234387523 234387523 single base substitution G A downstream_gene_variant ESAD-UK 2 234387523 234387523 single base substitution G A intron_variant ESAD-UK 2 234393860 234393860 single base substitution G A downstream_gene_variant ESAD-UK 2 234393860 234393860 single base substitution G A intron_variant ESAD-UK 2 234393860 234393860 single base substitution G A upstream_gene_variant ESAD-UK 2 234394644 234394644 single base substitution G A downstream_gene_variant ESAD-UK 2 234394644 234394644 single base substitution G A intron_variant ESAD-UK 2 234394644 234394644 single base substitution G A upstream_gene_variant ESAD-UK 2 234399702 234399702 single base substitution G A downstream_gene_variant ESAD-UK 2 234399702 234399702 single base substitution G A exon_variant ESAD-UK 2 234399702 234399702 single base substitution G A intron_variant ESAD-UK 2 234399702 234399702 single base substitution G A upstream_gene_variant ESAD-UK 2 234401199 234401199 single base substitution C T downstream_gene_variant ESAD-UK 2 234401199 234401199 single base substitution C T intron_variant ESAD-UK 2 234401199 234401199 single base substitution C T upstream_gene_variant ESAD-UK 2 234406259 234406259 single base substitution C T intron_variant ESAD-UK 2 234406259 234406259 single base substitution C T upstream_gene_variant ESAD-UK 2 234408260 234408260 single base substitution C T intron_variant ESAD-UK 2 234408536 234408536 single base substitution G T exon_variant ESAD-UK 2 234408536 234408536 single base substitution G T missense_variant S54Y 161C>A ESAD-UK 2 234408536 234408536 single base substitution G T missense_variant S55Y 164C>A ESAD-UK 2 234408536 234408536 single base substitution G T missense_variant S879Y 2636C>A ESAD-UK 2 234408536 234408536 single base substitution G T missense_variant S891Y 2672C>A ESAD-UK 2 234409786 234409786 single base substitution T A intron_variant ESAD-UK 2 234411029 234411029 single base substitution A T intron_variant ESAD-UK 2 234411746 234411746 single base substitution G T intron_variant ESAD-UK 2 234414459 234414460 deletion of <=200bp TA - intron_variant ESAD-UK 2 234414725 234414725 single base substitution A C intron_variant ESAD-UK 2 234415222 234415222 single base substitution G A intron_variant ESAD-UK 2 234416146 234416146 single base substitution G T intron_variant ESAD-UK 2 234420923 234420923 deletion of <=200bp A - 5_prime_UTR_variant ESAD-UK 2 234420923 234420923 deletion of <=200bp A - intron_variant ESAD-UK 2 234420923 234420923 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 234426187 234426187 single base substitution C T downstream_gene_variant ESAD-UK 2 234426187 234426187 single base substitution C T intron_variant ESAD-UK 2 234426187 234426187 single base substitution C T upstream_gene_variant ESAD-UK 2 234431940 234431940 single base substitution C T downstream_gene_variant ESAD-UK 2 234431940 234431940 single base substitution C T missense_variant A692T 2074G>A ESAD-UK 2 234431940 234431940 single base substitution C T missense_variant A704T 2110G>A ESAD-UK 2 234431940 234431940 single base substitution C T upstream_gene_variant ESAD-UK 2 234433787 234433787 single base substitution C A downstream_gene_variant ESAD-UK 2 234433787 234433787 single base substitution C A intron_variant ESAD-UK 2 234433787 234433787 single base substitution C A upstream_gene_variant ESAD-UK 2 234434074 234434074 deletion of <=200bp A - downstream_gene_variant ESAD-UK 2 234434074 234434074 deletion of <=200bp A - intron_variant ESAD-UK 2 234434074 234434074 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 234434860 234434860 single base substitution A C intron_variant ESAD-UK 2 234434860 234434860 single base substitution A C upstream_gene_variant ESAD-UK 2 234436990 234436990 single base substitution T C intron_variant ESAD-UK 2 234438813 234438813 single base substitution G A intron_variant ESAD-UK 2 234440268 234440268 single base substitution A C intron_variant ESAD-UK 2 234443459 234443459 single base substitution T C intron_variant ESAD-UK 2 234443529 234443529 single base substitution A T intron_variant ESAD-UK 2 234448191 234448191 single base substitution G C intron_variant ESAD-UK 2 234450097 234450097 single base substitution C T intron_variant ESAD-UK 2 234451824 234451824 single base substitution G A intron_variant ESAD-UK 2 234451824 234451824 single base substitution G A upstream_gene_variant ESAD-UK 2 234451927 234451927 single base substitution T G intron_variant ESAD-UK 2 234451927 234451927 single base substitution T G upstream_gene_variant ESAD-UK 2 234452232 234452232 insertion of <=200bp - GGGA intron_variant ESAD-UK 2 234452232 234452232 insertion of <=200bp - GGGA upstream_gene_variant ESAD-UK 2 234453729 234453729 single base substitution A G intron_variant ESAD-UK 2 234453729 234453729 single base substitution A G upstream_gene_variant ESAD-UK 2 234461385 234461385 single base substitution G A downstream_gene_variant ESAD-UK 2 234461385 234461385 single base substitution G A intron_variant ESAD-UK 2 234466765 234466765 single base substitution C G downstream_gene_variant ESAD-UK 2 234466765 234466765 single base substitution C G intron_variant ESAD-UK 2 234469701 234469701 single base substitution G A intron_variant ESAD-UK 2 234475416 234475416 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 234475416 234475416 single base substitution G A exon_variant ESAD-UK 2 234475416 234475416 single base substitution G A upstream_gene_variant ESCA-CN 2 234442437 234442437 single base substitution C A intron_variant ESCA-CN 2 234460097 234460097 single base substitution C T downstream_gene_variant ESCA-CN 2 234460097 234460097 single base substitution C T synonymous_variant V254V 762G>A ESCA-CN 2 234460097 234460097 single base substitution C T synonymous_variant V266V 798G>A ESCA-CN 2 234474054 234474054 single base substitution G T exon_variant ESCA-CN 2 234474054 234474054 single base substitution G T synonymous_variant T49T 147C>A ESCA-CN 2 234474054 234474054 single base substitution G T synonymous_variant T61T 183C>A KIRC-US 2 234429716 234429716 single base substitution A C downstream_gene_variant KIRC-US 2 234429716 234429716 single base substitution A C missense_variant I43S 128T>G KIRC-US 2 234429716 234429716 single base substitution A C missense_variant I748S 2243T>G KIRC-US 2 234429716 234429716 single base substitution A C missense_variant I760S 2279T>G KIRC-US 2 234429739 234429739 insertion of <=200bp - TTC downstream_gene_variant KIRC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K35KE KIRC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K740KE KIRC-US 2 234429739 234429739 insertion of <=200bp - TTC inframe_insertion K752KE KIRC-US 2 234431845 234431845 single base substitution A G downstream_gene_variant KIRC-US 2 234431845 234431845 single base substitution A G synonymous_variant I18I 54T>C KIRC-US 2 234431845 234431845 single base substitution A G synonymous_variant I723I 2169T>C KIRC-US 2 234431845 234431845 single base substitution A G synonymous_variant I735I 2205T>C KIRC-US 2 234431973 234431973 single base substitution C T downstream_gene_variant KIRC-US 2 234431973 234431973 single base substitution C T missense_variant A681T 2041G>A KIRC-US 2 234431973 234431973 single base substitution C T missense_variant A693T 2077G>A KIRC-US 2 234431973 234431973 single base substitution C T upstream_gene_variant KIRC-US 2 234468567 234468567 single base substitution G A downstream_gene_variant KIRC-US 2 234468567 234468567 single base substitution G A exon_variant KIRC-US 2 234468567 234468567 single base substitution G A stop_gained R103* 307C>T KIRC-US 2 234468567 234468567 single base substitution G A stop_gained R91* 271C>T KIRP-US 2 234449396 234449396 single base substitution G T intron_variant KIRP-US 2 234449396 234449396 single base substitution G T missense_variant P360H 1079C>A KIRP-US 2 234449396 234449396 single base substitution G T missense_variant P372H 1115C>A LAML-KR 2 234402317 234402317 single base substitution T C downstream_gene_variant LAML-KR 2 234402317 234402317 single base substitution T C intron_variant LAML-KR 2 234402317 234402317 single base substitution T C upstream_gene_variant LAML-KR 2 234438454 234438454 single base substitution C T intron_variant LAML-KR 2 234470972 234470972 single base substitution C A intron_variant LGG-US 2 234408535 234408535 single base substitution A G exon_variant LGG-US 2 234408535 234408535 single base substitution A G synonymous_variant S54S 162T>C LGG-US 2 234408535 234408535 single base substitution A G synonymous_variant S55S 165T>C LGG-US 2 234408535 234408535 single base substitution A G synonymous_variant S879S 2637T>C LGG-US 2 234408535 234408535 single base substitution A G synonymous_variant S891S 2673T>C LGG-US 2 234434186 234434186 single base substitution T C exon_variant LGG-US 2 234434186 234434186 single base substitution T C missense_variant D582G 1745A>G LGG-US 2 234434186 234434186 single base substitution T C missense_variant D594G 1781A>G LGG-US 2 234434186 234434186 single base substitution T C upstream_gene_variant LICA-CN 2 234408529 234408529 single base substitution T A exon_variant LICA-CN 2 234408529 234408529 single base substitution T A synonymous_variant L56L 168A>T LICA-CN 2 234408529 234408529 single base substitution T A synonymous_variant L57L 171A>T LICA-CN 2 234408529 234408529 single base substitution T A synonymous_variant L881L 2643A>T LICA-CN 2 234408529 234408529 single base substitution T A synonymous_variant L893L 2679A>T LICA-CN 2 234442267 234442267 single base substitution G A intron_variant LICA-CN 2 234442267 234442267 single base substitution G A synonymous_variant S442S 1326C>T LICA-CN 2 234442267 234442267 single base substitution G A synonymous_variant S454S 1362C>T LICA-FR 2 234407191 234407191 single base substitution T C splice_region_variant LICA-FR 2 234407962 234407962 single base substitution A G intron_variant LICA-FR 2 234425935 234425935 single base substitution G T downstream_gene_variant LICA-FR 2 234425935 234425935 single base substitution G T intron_variant LICA-FR 2 234425935 234425935 single base substitution G T upstream_gene_variant LICA-FR 2 234436162 234436162 deletion of <=200bp T - exon_variant LICA-FR 2 234436162 234436162 deletion of <=200bp T - frameshift_variant H538 LICA-FR 2 234436162 234436162 deletion of <=200bp T - frameshift_variant H550 LICA-FR 2 234436162 234436162 deletion of <=200bp T - upstream_gene_variant LICA-FR 2 234436627 234436627 insertion of <=200bp - T intron_variant LICA-FR 2 234436627 234436627 insertion of <=200bp - T upstream_gene_variant LICA-FR 2 234438454 234438454 single base substitution C T intron_variant LICA-FR 2 234447240 234447240 single base substitution T A intron_variant LICA-FR 2 234456848 234456848 single base substitution T C intron_variant LICA-FR 2 234460022 234460022 single base substitution C T downstream_gene_variant LICA-FR 2 234460022 234460022 single base substitution C T splice_region_variant LICA-FR 2 234464283 234464283 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 234464283 234464283 insertion of <=200bp - T intron_variant LICA-FR 2 234464657 234464657 single base substitution G A downstream_gene_variant LICA-FR 2 234464657 234464657 single base substitution G A intron_variant LIHC-US 2 234394446 234394446 single base substitution G A 3_prime_UTR_variant LIHC-US 2 234394446 234394446 single base substitution G A downstream_gene_variant LIHC-US 2 234394446 234394446 single base substitution G A exon_variant LIHC-US 2 234394446 234394446 single base substitution G A synonymous_variant P1124P 3372C>T LIHC-US 2 234394446 234394446 single base substitution G A synonymous_variant P1136P 3408C>T LIHC-US 2 234394446 234394446 single base substitution G A synonymous_variant P91P 273C>T LIHC-US 2 234394446 234394446 single base substitution G A upstream_gene_variant LIHC-US 2 234394614 234394614 single base substitution G A 3_prime_UTR_variant LIHC-US 2 234394614 234394614 single base substitution G A downstream_gene_variant LIHC-US 2 234394614 234394614 single base substitution G A exon_variant LIHC-US 2 234394614 234394614 single base substitution G A synonymous_variant D1068D 3204C>T LIHC-US 2 234394614 234394614 single base substitution G A synonymous_variant D1080D 3240C>T LIHC-US 2 234394614 234394614 single base substitution G A synonymous_variant D35D 105C>T LIHC-US 2 234394614 234394614 single base substitution G A upstream_gene_variant LIHC-US 2 234431822 234431822 single base substitution T C downstream_gene_variant LIHC-US 2 234431822 234431822 single base substitution T C missense_variant D26G 77A>G LIHC-US 2 234431822 234431822 single base substitution T C missense_variant D731G 2192A>G LIHC-US 2 234431822 234431822 single base substitution T C missense_variant D743G 2228A>G LIHC-US 2 234438104 234438104 single base substitution G T exon_variant LIHC-US 2 234438104 234438104 single base substitution G T missense_variant A508E 1523C>A LIHC-US 2 234438104 234438104 single base substitution G T missense_variant A520E 1559C>A LIHC-US 2 234442150 234442150 single base substitution T C intron_variant LIHC-US 2 234442150 234442150 single base substitution T C synonymous_variant K481K 1443A>G LIHC-US 2 234442150 234442150 single base substitution T C synonymous_variant K493K 1479A>G LIHC-US 2 234442314 234442314 single base substitution G T intron_variant LIHC-US 2 234442314 234442314 single base substitution G T missense_variant Q427K 1279C>A LIHC-US 2 234442314 234442314 single base substitution G T missense_variant Q439K 1315C>A LIHC-US 2 234450954 234450954 single base substitution A G exon_variant LIHC-US 2 234450954 234450954 single base substitution A G missense_variant I341T 1022T>C LIHC-US 2 234450954 234450954 single base substitution A G missense_variant I353T 1058T>C LINC-JP 2 234386724 234386724 single base substitution G A downstream_gene_variant LINC-JP 2 234386724 234386724 single base substitution G A intron_variant LINC-JP 2 234394237 234394237 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 2 234394237 234394237 deletion of <=200bp T - downstream_gene_variant LINC-JP 2 234394237 234394237 deletion of <=200bp T - exon_variant LINC-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K114 LINC-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1147 LINC-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1159 LINC-JP 2 234394237 234394237 deletion of <=200bp T - upstream_gene_variant LINC-JP 2 234398064 234398064 single base substitution C T downstream_gene_variant LINC-JP 2 234398064 234398064 single base substitution C T exon_variant LINC-JP 2 234398064 234398064 single base substitution C T synonymous_variant T1025T 3075G>A LINC-JP 2 234398064 234398064 single base substitution C T synonymous_variant T1037T 3111G>A LINC-JP 2 234398064 234398064 single base substitution C T synonymous_variant T14T 42G>A LINC-JP 2 234398064 234398064 single base substitution C T synonymous_variant T200T 600G>A LINC-JP 2 234418369 234418369 single base substitution C T intron_variant LINC-JP 2 234418817 234418817 single base substitution C A intron_variant LINC-JP 2 234453584 234453584 single base substitution T G intron_variant LINC-JP 2 234453584 234453584 single base substitution T G upstream_gene_variant LINC-JP 2 234454058 234454058 single base substitution T C intron_variant LINC-JP 2 234454058 234454058 single base substitution T C upstream_gene_variant LINC-JP 2 234459155 234459155 single base substitution C A downstream_gene_variant LINC-JP 2 234459155 234459155 single base substitution C A intron_variant LINC-JP 2 234461708 234461708 insertion of <=200bp - ATTGGCCATAGGTACA downstream_gene_variant LINC-JP 2 234461708 234461708 insertion of <=200bp - ATTGGCCATAGGTACA intron_variant LINC-JP 2 234462195 234462195 single base substitution T C downstream_gene_variant LINC-JP 2 234462195 234462195 single base substitution T C intron_variant LINC-JP 2 234478772 234478772 single base substitution G A upstream_gene_variant LIRI-JP 2 234380155 234380155 single base substitution A T downstream_gene_variant LIRI-JP 2 234380744 234380744 single base substitution A C downstream_gene_variant LIRI-JP 2 234381533 234381533 single base substitution C G downstream_gene_variant LIRI-JP 2 234383509 234383509 single base substitution C G downstream_gene_variant LIRI-JP 2 234383737 234383737 single base substitution T G downstream_gene_variant LIRI-JP 2 234383752 234383752 single base substitution T A downstream_gene_variant LIRI-JP 2 234385276 234385276 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 234385276 234385276 single base substitution T C downstream_gene_variant LIRI-JP 2 234385276 234385276 single base substitution T C exon_variant LIRI-JP 2 234390126 234390126 single base substitution G A downstream_gene_variant LIRI-JP 2 234390126 234390126 single base substitution G A intron_variant LIRI-JP 2 234394237 234394237 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 2 234394237 234394237 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 234394237 234394237 deletion of <=200bp T - exon_variant LIRI-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K114 LIRI-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1147 LIRI-JP 2 234394237 234394237 deletion of <=200bp T - frameshift_variant K1159 LIRI-JP 2 234394237 234394237 deletion of <=200bp T - upstream_gene_variant LIRI-JP 2 234394821 234394822 deletion of <=200bp GT - downstream_gene_variant LIRI-JP 2 234394821 234394822 deletion of <=200bp GT - intron_variant LIRI-JP 2 234394821 234394822 deletion of <=200bp GT - upstream_gene_variant LIRI-JP 2 234397060 234397060 single base substitution G C downstream_gene_variant LIRI-JP 2 234397060 234397060 single base substitution G C intron_variant LIRI-JP 2 234400111 234400111 single base substitution A G downstream_gene_variant LIRI-JP 2 234400111 234400111 single base substitution A G intron_variant LIRI-JP 2 234400111 234400111 single base substitution A G upstream_gene_variant LIRI-JP 2 234401025 234401025 single base substitution T A downstream_gene_variant LIRI-JP 2 234401025 234401025 single base substitution T A intron_variant LIRI-JP 2 234401025 234401025 single base substitution T A upstream_gene_variant LIRI-JP 2 234401543 234401543 single base substitution G T 3_prime_UTR_variant LIRI-JP 2 234401543 234401543 single base substitution G T downstream_gene_variant LIRI-JP 2 234401543 234401543 single base substitution G T intron_variant LIRI-JP 2 234401543 234401543 single base substitution G T upstream_gene_variant LIRI-JP 2 234401680 234401680 insertion of <=200bp - A 3_prime_UTR_variant LIRI-JP 2 234401680 234401680 insertion of <=200bp - A downstream_gene_variant LIRI-JP 2 234401680 234401680 insertion of <=200bp - A intron_variant LIRI-JP 2 234401680 234401680 insertion of <=200bp - A upstream_gene_variant LIRI-JP 2 234403804 234403804 single base substitution T C downstream_gene_variant LIRI-JP 2 234403804 234403804 single base substitution T C intron_variant LIRI-JP 2 234403804 234403804 single base substitution T C upstream_gene_variant LIRI-JP 2 234405084 234405084 single base substitution T G downstream_gene_variant LIRI-JP 2 234405084 234405084 single base substitution T G intron_variant LIRI-JP 2 234405084 234405084 single base substitution T G upstream_gene_variant LIRI-JP 2 234410778 234410778 single base substitution T C intron_variant LIRI-JP 2 234411161 234411161 single base substitution T A intron_variant LIRI-JP 2 234412003 234412003 single base substitution T C intron_variant LIRI-JP 2 234413431 234413431 single base substitution T A intron_variant LIRI-JP 2 234413640 234413640 single base substitution T C intron_variant LIRI-JP 2 234415789 234415789 single base substitution A T intron_variant LIRI-JP 2 234422182 234422182 single base substitution T A intron_variant LIRI-JP 2 234422182 234422182 single base substitution T A upstream_gene_variant LIRI-JP 2 234425041 234425041 single base substitution C T downstream_gene_variant LIRI-JP 2 234425041 234425041 single base substitution C T intron_variant LIRI-JP 2 234425041 234425041 single base substitution C T upstream_gene_variant LIRI-JP 2 234426347 234426347 single base substitution T C downstream_gene_variant LIRI-JP 2 234426347 234426347 single base substitution T C intron_variant LIRI-JP 2 234426347 234426347 single base substitution T C upstream_gene_variant LIRI-JP 2 234428847 234428847 single base substitution T C intron_variant LIRI-JP 2 234430747 234430747 single base substitution G A downstream_gene_variant LIRI-JP 2 234430747 234430747 single base substitution G A intron_variant LIRI-JP 2 234431955 234431955 single base substitution T C downstream_gene_variant LIRI-JP 2 234431955 234431955 single base substitution T C missense_variant I687V 2059A>G LIRI-JP 2 234431955 234431955 single base substitution T C missense_variant I699V 2095A>G LIRI-JP 2 234431955 234431955 single base substitution T C upstream_gene_variant LIRI-JP 2 234432738 234432738 single base substitution T C downstream_gene_variant LIRI-JP 2 234432738 234432738 single base substitution T C intron_variant LIRI-JP 2 234432738 234432738 single base substitution T C upstream_gene_variant LIRI-JP 2 234436154 234436154 single base substitution T C exon_variant LIRI-JP 2 234436154 234436154 single base substitution T C missense_variant N541D 1621A>G LIRI-JP 2 234436154 234436154 single base substitution T C missense_variant N553D 1657A>G LIRI-JP 2 234436154 234436154 single base substitution T C upstream_gene_variant LIRI-JP 2 234436511 234436511 insertion of <=200bp - G intron_variant LIRI-JP 2 234436511 234436511 insertion of <=200bp - G upstream_gene_variant LIRI-JP 2 234437134 234437134 single base substitution C T intron_variant LIRI-JP 2 234440626 234440626 single base substitution T A intron_variant LIRI-JP 2 234442494 234442494 single base substitution G T intron_variant LIRI-JP 2 234442503 234442503 single base substitution C G intron_variant LIRI-JP 2 234443436 234443436 single base substitution G A intron_variant LIRI-JP 2 234444339 234444339 single base substitution A C intron_variant LIRI-JP 2 234445960 234445960 single base substitution T C intron_variant LIRI-JP 2 234446639 234446639 single base substitution T C intron_variant LIRI-JP 2 234447154 234447154 single base substitution C T intron_variant LIRI-JP 2 234450819 234450819 insertion of <=200bp - C intron_variant LIRI-JP 2 234456409 234456409 insertion of <=200bp - A intron_variant LIRI-JP 2 234458303 234458304 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 2 234458303 234458304 deletion of <=200bp AT - intron_variant LIRI-JP 2 234461292 234461292 single base substitution A G downstream_gene_variant LIRI-JP 2 234461292 234461292 single base substitution A G intron_variant LIRI-JP 2 234461661 234461661 single base substitution A G downstream_gene_variant LIRI-JP 2 234461661 234461661 single base substitution A G intron_variant LIRI-JP 2 234461982 234461982 single base substitution T C downstream_gene_variant LIRI-JP 2 234461982 234461982 single base substitution T C intron_variant LIRI-JP 2 234462920 234462920 single base substitution C T downstream_gene_variant LIRI-JP 2 234462920 234462920 single base substitution C T intron_variant LIRI-JP 2 234464866 234464866 single base substitution T C downstream_gene_variant LIRI-JP 2 234464866 234464866 single base substitution T C intron_variant LIRI-JP 2 234472484 234472484 single base substitution T C intron_variant LIRI-JP 2 234473212 234473212 single base substitution C T intron_variant LIRI-JP 2 234475412 234475412 single base substitution G C 5_prime_UTR_variant LIRI-JP 2 234475412 234475412 single base substitution G C exon_variant LIRI-JP 2 234475412 234475412 single base substitution G C upstream_gene_variant LIRI-JP 2 234475557 234475557 single base substitution G T upstream_gene_variant LUSC-KR 2 234379633 234379633 single base substitution G A downstream_gene_variant LUSC-KR 2 234386019 234386019 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 234386019 234386019 single base substitution G C downstream_gene_variant LUSC-KR 2 234386019 234386019 single base substitution G C exon_variant LUSC-KR 2 234386339 234386339 single base substitution G C downstream_gene_variant LUSC-KR 2 234386339 234386339 single base substitution G C intron_variant LUSC-KR 2 234397713 234397713 single base substitution C A downstream_gene_variant LUSC-KR 2 234397713 234397713 single base substitution C A intron_variant LUSC-KR 2 234402004 234402004 single base substitution G C 3_prime_UTR_variant LUSC-KR 2 234402004 234402004 single base substitution G C downstream_gene_variant LUSC-KR 2 234402004 234402004 single base substitution G C intron_variant LUSC-KR 2 234402004 234402004 single base substitution G C upstream_gene_variant LUSC-KR 2 234416799 234416799 single base substitution T G intron_variant LUSC-KR 2 234427503 234427503 single base substitution C A downstream_gene_variant LUSC-KR 2 234427503 234427503 single base substitution C A intron_variant LUSC-KR 2 234430511 234430511 single base substitution G A downstream_gene_variant LUSC-KR 2 234430511 234430511 single base substitution G A intron_variant LUSC-KR 2 234430765 234430765 single base substitution C A downstream_gene_variant LUSC-KR 2 234430765 234430765 single base substitution C A intron_variant LUSC-KR 2 234444137 234444137 single base substitution C A intron_variant LUSC-KR 2 234446905 234446905 single base substitution A G intron_variant LUSC-KR 2 234453626 234453626 single base substitution G C intron_variant LUSC-KR 2 234453626 234453626 single base substitution G C upstream_gene_variant LUSC-KR 2 234456163 234456163 single base substitution A G intron_variant LUSC-KR 2 234456163 234456163 single base substitution A G upstream_gene_variant LUSC-KR 2 234458670 234458670 single base substitution C T downstream_gene_variant LUSC-KR 2 234458670 234458670 single base substitution C T intron_variant LUSC-KR 2 234470463 234470463 single base substitution C T intron_variant LUSC-KR 2 234470972 234470972 single base substitution C A intron_variant LUSC-KR 2 234471462 234471462 single base substitution G T intron_variant LUSC-KR 2 234479288 234479288 single base substitution G A upstream_gene_variant LUSC-US 2 234407258 234407258 single base substitution C A missense_variant G58V 173G>T LUSC-US 2 234407258 234407258 single base substitution C A missense_variant G59V 176G>T LUSC-US 2 234407258 234407258 single base substitution C A missense_variant G883V 2648G>T LUSC-US 2 234407258 234407258 single base substitution C A missense_variant G895V 2684G>T LUSC-US 2 234407258 234407258 single base substitution C A splice_region_variant LUSC-US 2 234449396 234449396 single base substitution G C intron_variant LUSC-US 2 234449396 234449396 single base substitution G C missense_variant P360R 1079C>G LUSC-US 2 234449396 234449396 single base substitution G C missense_variant P372R 1115C>G LUSC-US 2 234468512 234468512 single base substitution T C downstream_gene_variant LUSC-US 2 234468512 234468512 single base substitution T C exon_variant LUSC-US 2 234468512 234468512 single base substitution T C missense_variant Q109R 326A>G LUSC-US 2 234468512 234468512 single base substitution T C missense_variant Q121R 362A>G MALY-DE 2 234379741 234379741 single base substitution C T downstream_gene_variant MALY-DE 2 234385053 234385053 single base substitution C A 3_prime_UTR_variant MALY-DE 2 234385053 234385053 single base substitution C A downstream_gene_variant MALY-DE 2 234385053 234385053 single base substitution C A exon_variant MALY-DE 2 234390435 234390435 single base substitution C T downstream_gene_variant MALY-DE 2 234390435 234390435 single base substitution C T intron_variant MALY-DE 2 234390435 234390435 single base substitution C T upstream_gene_variant MALY-DE 2 234394021 234394021 single base substitution T A downstream_gene_variant MALY-DE 2 234394021 234394021 single base substitution T A intron_variant MALY-DE 2 234394021 234394021 single base substitution T A upstream_gene_variant MALY-DE 2 234399019 234399019 single base substitution T C downstream_gene_variant MALY-DE 2 234399019 234399019 single base substitution T C intron_variant MALY-DE 2 234399019 234399019 single base substitution T C upstream_gene_variant MALY-DE 2 234423349 234423349 single base substitution A G downstream_gene_variant MALY-DE 2 234423349 234423349 single base substitution A G intron_variant MALY-DE 2 234423349 234423349 single base substitution A G upstream_gene_variant MALY-DE 2 234426051 234426051 single base substitution G T downstream_gene_variant MALY-DE 2 234426051 234426051 single base substitution G T intron_variant MALY-DE 2 234426051 234426051 single base substitution G T upstream_gene_variant MALY-DE 2 234428250 234428250 single base substitution A C intron_variant MALY-DE 2 234428250 234428250 single base substitution A C stop_gained L92* 275T>G MALY-DE 2 234429776 234429776 single base substitution A T downstream_gene_variant MALY-DE 2 234429776 234429776 single base substitution A T intron_variant MALY-DE 2 234449252 234449252 single base substitution C T intron_variant MALY-DE 2 234458033 234458033 single base substitution A T downstream_gene_variant MALY-DE 2 234458033 234458033 single base substitution A T intron_variant MALY-DE 2 234460294 234460294 single base substitution C A downstream_gene_variant MALY-DE 2 234460294 234460294 single base substitution C A intron_variant MALY-DE 2 234463787 234463787 single base substitution C T downstream_gene_variant MALY-DE 2 234463787 234463787 single base substitution C T intron_variant MALY-DE 2 234478725 234478725 single base substitution A G upstream_gene_variant MALY-DE 2 234479872 234479872 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 234379380 234379380 single base substitution G A downstream_gene_variant MELA-AU 2 234379976 234379976 single base substitution C T downstream_gene_variant MELA-AU 2 234380699 234380699 single base substitution A G downstream_gene_variant MELA-AU 2 234382456 234382457 multiple base substitution (>=2bp and <=200bp) GG TT downstream_gene_variant MELA-AU 2 234383154 234383155 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 234383536 234383536 single base substitution T C downstream_gene_variant MELA-AU 2 234383787 234383787 single base substitution G A downstream_gene_variant MELA-AU 2 234384040 234384041 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 234385339 234385339 single base substitution T C 3_prime_UTR_variant MELA-AU 2 234385339 234385339 single base substitution T C downstream_gene_variant MELA-AU 2 234385339 234385339 single base substitution T C exon_variant MELA-AU 2 234387509 234387509 single base substitution G A downstream_gene_variant MELA-AU 2 234387509 234387509 single base substitution G A intron_variant MELA-AU 2 234387899 234387899 single base substitution C T downstream_gene_variant MELA-AU 2 234387899 234387899 single base substitution C T intron_variant MELA-AU 2 234387928 234387928 single base substitution G A downstream_gene_variant MELA-AU 2 234387928 234387928 single base substitution G A intron_variant MELA-AU 2 234388037 234388037 single base substitution C T downstream_gene_variant MELA-AU 2 234388037 234388037 single base substitution C T intron_variant MELA-AU 2 234388196 234388196 single base substitution G A downstream_gene_variant MELA-AU 2 234388196 234388196 single base substitution G A intron_variant MELA-AU 2 234388547 234388547 single base substitution C T downstream_gene_variant MELA-AU 2 234388547 234388547 single base substitution C T intron_variant MELA-AU 2 234389050 234389050 single base substitution G A downstream_gene_variant MELA-AU 2 234389050 234389050 single base substitution G A intron_variant MELA-AU 2 234389590 234389590 single base substitution G A downstream_gene_variant MELA-AU 2 234389590 234389590 single base substitution G A intron_variant MELA-AU 2 234391338 234391338 single base substitution G C downstream_gene_variant MELA-AU 2 234391338 234391338 single base substitution G C intron_variant MELA-AU 2 234391338 234391338 single base substitution G C upstream_gene_variant MELA-AU 2 234392086 234392086 single base substitution G A downstream_gene_variant MELA-AU 2 234392086 234392086 single base substitution G A intron_variant MELA-AU 2 234392086 234392086 single base substitution G A upstream_gene_variant MELA-AU 2 234392167 234392167 single base substitution A T downstream_gene_variant MELA-AU 2 234392167 234392167 single base substitution A T intron_variant MELA-AU 2 234392167 234392167 single base substitution A T upstream_gene_variant MELA-AU 2 234392314 234392314 single base substitution C T downstream_gene_variant MELA-AU 2 234392314 234392314 single base substitution C T intron_variant MELA-AU 2 234392314 234392314 single base substitution C T upstream_gene_variant MELA-AU 2 234393090 234393090 single base substitution A G downstream_gene_variant MELA-AU 2 234393090 234393090 single base substitution A G intron_variant MELA-AU 2 234393090 234393090 single base substitution A G upstream_gene_variant MELA-AU 2 234393186 234393186 single base substitution G A downstream_gene_variant MELA-AU 2 234393186 234393186 single base substitution G A intron_variant MELA-AU 2 234393186 234393186 single base substitution G A upstream_gene_variant MELA-AU 2 234393566 234393566 single base substitution G A downstream_gene_variant MELA-AU 2 234393566 234393566 single base substitution G A intron_variant MELA-AU 2 234393566 234393566 single base substitution G A upstream_gene_variant MELA-AU 2 234393675 234393675 single base substitution G C downstream_gene_variant MELA-AU 2 234393675 234393675 single base substitution G C intron_variant MELA-AU 2 234393675 234393675 single base substitution G C upstream_gene_variant MELA-AU 2 234394383 234394383 single base substitution A G downstream_gene_variant MELA-AU 2 234394383 234394383 single base substitution A G intron_variant MELA-AU 2 234394383 234394383 single base substitution A G upstream_gene_variant MELA-AU 2 234394854 234394854 single base substitution C T downstream_gene_variant MELA-AU 2 234394854 234394854 single base substitution C T intron_variant MELA-AU 2 234394854 234394854 single base substitution C T upstream_gene_variant MELA-AU 2 234394948 234394948 single base substitution G A downstream_gene_variant MELA-AU 2 234394948 234394948 single base substitution G A intron_variant MELA-AU 2 234394948 234394948 single base substitution G A upstream_gene_variant MELA-AU 2 234395565 234395566 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 234395565 234395566 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234395792 234395792 single base substitution G A downstream_gene_variant MELA-AU 2 234395792 234395792 single base substitution G A intron_variant MELA-AU 2 234395886 234395886 single base substitution G A downstream_gene_variant MELA-AU 2 234395886 234395886 single base substitution G A intron_variant MELA-AU 2 234395955 234395955 single base substitution G A downstream_gene_variant MELA-AU 2 234395955 234395955 single base substitution G A intron_variant MELA-AU 2 234396101 234396101 single base substitution C T downstream_gene_variant MELA-AU 2 234396101 234396101 single base substitution C T intron_variant MELA-AU 2 234396538 234396538 single base substitution G A 3_prime_UTR_variant MELA-AU 2 234396538 234396538 single base substitution G A downstream_gene_variant MELA-AU 2 234396538 234396538 single base substitution G A intron_variant MELA-AU 2 234396542 234396542 single base substitution G A 3_prime_UTR_variant MELA-AU 2 234396542 234396542 single base substitution G A downstream_gene_variant MELA-AU 2 234396542 234396542 single base substitution G A intron_variant MELA-AU 2 234396772 234396772 single base substitution G A downstream_gene_variant MELA-AU 2 234396772 234396772 single base substitution G A intron_variant MELA-AU 2 234397087 234397087 single base substitution G A downstream_gene_variant MELA-AU 2 234397087 234397087 single base substitution G A intron_variant MELA-AU 2 234397360 234397360 single base substitution G A downstream_gene_variant MELA-AU 2 234397360 234397360 single base substitution G A intron_variant MELA-AU 2 234397724 234397724 single base substitution A G downstream_gene_variant MELA-AU 2 234397724 234397724 single base substitution A G intron_variant MELA-AU 2 234397752 234397752 single base substitution C T downstream_gene_variant MELA-AU 2 234397752 234397752 single base substitution C T intron_variant MELA-AU 2 234398093 234398093 single base substitution G A downstream_gene_variant MELA-AU 2 234398093 234398093 single base substitution G A exon_variant MELA-AU 2 234398093 234398093 single base substitution G A missense_variant P1016S 3046C>T MELA-AU 2 234398093 234398093 single base substitution G A missense_variant P1028S 3082C>T MELA-AU 2 234398093 234398093 single base substitution G A missense_variant P191S 571C>T MELA-AU 2 234398093 234398093 single base substitution G A missense_variant P5S 13C>T MELA-AU 2 234398368 234398368 single base substitution C T downstream_gene_variant MELA-AU 2 234398368 234398368 single base substitution C T exon_variant MELA-AU 2 234398368 234398368 single base substitution C T intron_variant MELA-AU 2 234398368 234398368 single base substitution C T upstream_gene_variant MELA-AU 2 234398973 234398973 single base substitution G A downstream_gene_variant MELA-AU 2 234398973 234398973 single base substitution G A intron_variant MELA-AU 2 234398973 234398973 single base substitution G A upstream_gene_variant MELA-AU 2 234399044 234399044 single base substitution C T downstream_gene_variant MELA-AU 2 234399044 234399044 single base substitution C T intron_variant MELA-AU 2 234399044 234399044 single base substitution C T upstream_gene_variant MELA-AU 2 234399632 234399632 single base substitution G A downstream_gene_variant MELA-AU 2 234399632 234399632 single base substitution G A intron_variant MELA-AU 2 234399632 234399632 single base substitution G A upstream_gene_variant MELA-AU 2 234400262 234400262 single base substitution G C downstream_gene_variant MELA-AU 2 234400262 234400262 single base substitution G C intron_variant MELA-AU 2 234400262 234400262 single base substitution G C upstream_gene_variant MELA-AU 2 234400278 234400278 single base substitution G C downstream_gene_variant MELA-AU 2 234400278 234400278 single base substitution G C intron_variant MELA-AU 2 234400278 234400278 single base substitution G C upstream_gene_variant MELA-AU 2 234400425 234400425 single base substitution G A downstream_gene_variant MELA-AU 2 234400425 234400425 single base substitution G A intron_variant MELA-AU 2 234400425 234400425 single base substitution G A upstream_gene_variant MELA-AU 2 234400472 234400472 single base substitution G A downstream_gene_variant MELA-AU 2 234400472 234400472 single base substitution G A intron_variant MELA-AU 2 234400472 234400472 single base substitution G A upstream_gene_variant MELA-AU 2 234400690 234400690 single base substitution G A downstream_gene_variant MELA-AU 2 234400690 234400690 single base substitution G A intron_variant MELA-AU 2 234400690 234400690 single base substitution G A upstream_gene_variant MELA-AU 2 234401788 234401788 single base substitution G A 3_prime_UTR_variant MELA-AU 2 234401788 234401788 single base substitution G A downstream_gene_variant MELA-AU 2 234401788 234401788 single base substitution G A intron_variant MELA-AU 2 234401788 234401788 single base substitution G A upstream_gene_variant MELA-AU 2 234402412 234402413 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 234402412 234402413 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 234402412 234402413 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 234403106 234403107 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 234403106 234403107 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234403106 234403107 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 234403293 234403293 single base substitution G A downstream_gene_variant MELA-AU 2 234403293 234403293 single base substitution G A intron_variant MELA-AU 2 234403293 234403293 single base substitution G A upstream_gene_variant MELA-AU 2 234404171 234404171 single base substitution G A downstream_gene_variant MELA-AU 2 234404171 234404171 single base substitution G A intron_variant MELA-AU 2 234404171 234404171 single base substitution G A upstream_gene_variant MELA-AU 2 234404260 234404260 single base substitution G A downstream_gene_variant MELA-AU 2 234404260 234404260 single base substitution G A intron_variant MELA-AU 2 234404260 234404260 single base substitution G A upstream_gene_variant MELA-AU 2 234404818 234404818 single base substitution G A downstream_gene_variant MELA-AU 2 234404818 234404818 single base substitution G A intron_variant MELA-AU 2 234404818 234404818 single base substitution G A upstream_gene_variant MELA-AU 2 234405078 234405078 single base substitution G A downstream_gene_variant MELA-AU 2 234405078 234405078 single base substitution G A intron_variant MELA-AU 2 234405078 234405078 single base substitution G A upstream_gene_variant MELA-AU 2 234405097 234405097 single base substitution G A downstream_gene_variant MELA-AU 2 234405097 234405097 single base substitution G A intron_variant MELA-AU 2 234405097 234405097 single base substitution G A upstream_gene_variant MELA-AU 2 234405593 234405593 single base substitution G A intron_variant MELA-AU 2 234405593 234405593 single base substitution G A upstream_gene_variant MELA-AU 2 234405745 234405745 single base substitution G A intron_variant MELA-AU 2 234405745 234405745 single base substitution G A upstream_gene_variant MELA-AU 2 234405833 234405834 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234405833 234405834 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 234406150 234406150 single base substitution G A intron_variant MELA-AU 2 234406150 234406150 single base substitution G A upstream_gene_variant MELA-AU 2 234406165 234406165 single base substitution G A intron_variant MELA-AU 2 234406165 234406165 single base substitution G A upstream_gene_variant MELA-AU 2 234406306 234406306 single base substitution G A intron_variant MELA-AU 2 234406306 234406306 single base substitution G A upstream_gene_variant MELA-AU 2 234406666 234406666 single base substitution G A intron_variant MELA-AU 2 234406666 234406666 single base substitution G A upstream_gene_variant MELA-AU 2 234406720 234406720 single base substitution C T intron_variant MELA-AU 2 234406720 234406720 single base substitution C T upstream_gene_variant MELA-AU 2 234406832 234406832 single base substitution G A intron_variant MELA-AU 2 234406832 234406832 single base substitution G A upstream_gene_variant MELA-AU 2 234407049 234407049 single base substitution G A intron_variant MELA-AU 2 234407049 234407049 single base substitution G A upstream_gene_variant MELA-AU 2 234408018 234408018 single base substitution G A intron_variant MELA-AU 2 234409518 234409518 single base substitution G A intron_variant MELA-AU 2 234409552 234409552 single base substitution G A intron_variant MELA-AU 2 234410258 234410258 single base substitution C T intron_variant MELA-AU 2 234410559 234410559 single base substitution G A intron_variant MELA-AU 2 234410911 234410911 single base substitution G A intron_variant MELA-AU 2 234411014 234411014 single base substitution T C intron_variant MELA-AU 2 234411159 234411159 single base substitution G A intron_variant MELA-AU 2 234411644 234411644 single base substitution G A intron_variant MELA-AU 2 234411731 234411731 single base substitution G A intron_variant MELA-AU 2 234411806 234411806 single base substitution G A intron_variant MELA-AU 2 234412445 234412445 single base substitution G A intron_variant MELA-AU 2 234412497 234412497 single base substitution A G intron_variant MELA-AU 2 234412676 234412676 single base substitution G A intron_variant MELA-AU 2 234412684 234412684 single base substitution T C intron_variant MELA-AU 2 234412910 234412910 single base substitution G A intron_variant MELA-AU 2 234412913 234412913 single base substitution T C intron_variant MELA-AU 2 234413059 234413059 single base substitution G A intron_variant MELA-AU 2 234413261 234413261 single base substitution T G intron_variant MELA-AU 2 234413409 234413409 single base substitution G A intron_variant MELA-AU 2 234413453 234413453 single base substitution G A intron_variant MELA-AU 2 234413495 234413495 single base substitution C A intron_variant MELA-AU 2 234413970 234413971 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234414008 234414008 single base substitution G A intron_variant MELA-AU 2 234414231 234414231 single base substitution G A intron_variant MELA-AU 2 234414830 234414830 single base substitution A T intron_variant MELA-AU 2 234415003 234415003 single base substitution G A intron_variant MELA-AU 2 234415213 234415213 single base substitution T A intron_variant MELA-AU 2 234415456 234415456 single base substitution C T intron_variant MELA-AU 2 234415832 234415832 single base substitution G A intron_variant MELA-AU 2 234416145 234416145 single base substitution A T intron_variant MELA-AU 2 234416543 234416543 single base substitution G A intron_variant MELA-AU 2 234417083 234417083 single base substitution G A intron_variant MELA-AU 2 234417192 234417192 single base substitution G A intron_variant MELA-AU 2 234417332 234417332 single base substitution G A intron_variant MELA-AU 2 234417728 234417728 single base substitution G C intron_variant MELA-AU 2 234418934 234418934 single base substitution C A intron_variant MELA-AU 2 234419183 234419183 single base substitution G A intron_variant MELA-AU 2 234419314 234419314 single base substitution G A intron_variant MELA-AU 2 234420362 234420362 single base substitution G A exon_variant MELA-AU 2 234420362 234420362 single base substitution G A missense_variant S14L 41C>T MELA-AU 2 234420362 234420362 single base substitution G A missense_variant S15L 44C>T MELA-AU 2 234420362 234420362 single base substitution G A missense_variant S839L 2516C>T MELA-AU 2 234420362 234420362 single base substitution G A missense_variant S851L 2552C>T MELA-AU 2 234420441 234420441 single base substitution G A 5_prime_UTR_variant MELA-AU 2 234420441 234420441 single base substitution G A missense_variant P813S 2437C>T MELA-AU 2 234420441 234420441 single base substitution G A missense_variant P825S 2473C>T MELA-AU 2 234420441 234420441 single base substitution G A splice_region_variant MELA-AU 2 234420441 234420441 single base substitution G A upstream_gene_variant MELA-AU 2 234420932 234420932 single base substitution G A 5_prime_UTR_variant MELA-AU 2 234420932 234420932 single base substitution G A intron_variant MELA-AU 2 234420932 234420932 single base substitution G A upstream_gene_variant MELA-AU 2 234421338 234421338 single base substitution T A exon_variant MELA-AU 2 234421338 234421338 single base substitution T A intron_variant MELA-AU 2 234421338 234421338 single base substitution T A upstream_gene_variant MELA-AU 2 234422386 234422386 single base substitution G A intron_variant MELA-AU 2 234422386 234422386 single base substitution G A upstream_gene_variant MELA-AU 2 234423280 234423280 single base substitution G A downstream_gene_variant MELA-AU 2 234423280 234423280 single base substitution G A intron_variant MELA-AU 2 234423280 234423280 single base substitution G A upstream_gene_variant MELA-AU 2 234423302 234423302 single base substitution G A downstream_gene_variant MELA-AU 2 234423302 234423302 single base substitution G A intron_variant MELA-AU 2 234423302 234423302 single base substitution G A upstream_gene_variant MELA-AU 2 234424181 234424181 single base substitution G A downstream_gene_variant MELA-AU 2 234424181 234424181 single base substitution G A intron_variant MELA-AU 2 234424181 234424181 single base substitution G A upstream_gene_variant MELA-AU 2 234424363 234424363 single base substitution G A downstream_gene_variant MELA-AU 2 234424363 234424363 single base substitution G A intron_variant MELA-AU 2 234424363 234424363 single base substitution G A upstream_gene_variant MELA-AU 2 234424530 234424530 single base substitution C T downstream_gene_variant MELA-AU 2 234424530 234424530 single base substitution C T intron_variant MELA-AU 2 234424530 234424530 single base substitution C T upstream_gene_variant MELA-AU 2 234424621 234424621 single base substitution G A downstream_gene_variant MELA-AU 2 234424621 234424621 single base substitution G A intron_variant MELA-AU 2 234424621 234424621 single base substitution G A upstream_gene_variant MELA-AU 2 234424712 234424712 single base substitution C G downstream_gene_variant MELA-AU 2 234424712 234424712 single base substitution C G intron_variant MELA-AU 2 234424712 234424712 single base substitution C G upstream_gene_variant MELA-AU 2 234424777 234424777 single base substitution A C downstream_gene_variant MELA-AU 2 234424777 234424777 single base substitution A C intron_variant MELA-AU 2 234424777 234424777 single base substitution A C upstream_gene_variant MELA-AU 2 234424903 234424903 single base substitution C T downstream_gene_variant MELA-AU 2 234424903 234424903 single base substitution C T intron_variant MELA-AU 2 234424903 234424903 single base substitution C T upstream_gene_variant MELA-AU 2 234425027 234425027 single base substitution G A downstream_gene_variant MELA-AU 2 234425027 234425027 single base substitution G A intron_variant MELA-AU 2 234425027 234425027 single base substitution G A upstream_gene_variant MELA-AU 2 234425028 234425028 single base substitution G A downstream_gene_variant MELA-AU 2 234425028 234425028 single base substitution G A intron_variant MELA-AU 2 234425028 234425028 single base substitution G A upstream_gene_variant MELA-AU 2 234425257 234425257 single base substitution C T downstream_gene_variant MELA-AU 2 234425257 234425257 single base substitution C T intron_variant MELA-AU 2 234425257 234425257 single base substitution C T upstream_gene_variant MELA-AU 2 234426094 234426094 single base substitution G A downstream_gene_variant MELA-AU 2 234426094 234426094 single base substitution G A intron_variant MELA-AU 2 234426094 234426094 single base substitution G A upstream_gene_variant MELA-AU 2 234426241 234426241 single base substitution G A downstream_gene_variant MELA-AU 2 234426241 234426241 single base substitution G A intron_variant MELA-AU 2 234426241 234426241 single base substitution G A upstream_gene_variant MELA-AU 2 234426246 234426246 single base substitution G A downstream_gene_variant MELA-AU 2 234426246 234426246 single base substitution G A intron_variant MELA-AU 2 234426246 234426246 single base substitution G A upstream_gene_variant MELA-AU 2 234426646 234426646 single base substitution G A downstream_gene_variant MELA-AU 2 234426646 234426646 single base substitution G A intron_variant MELA-AU 2 234427070 234427071 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 234427070 234427071 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234427262 234427263 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 234427262 234427263 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234427386 234427386 single base substitution C T downstream_gene_variant MELA-AU 2 234427386 234427386 single base substitution C T intron_variant MELA-AU 2 234427863 234427863 single base substitution C A downstream_gene_variant MELA-AU 2 234427863 234427863 single base substitution C A intron_variant MELA-AU 2 234429216 234429216 single base substitution G A downstream_gene_variant MELA-AU 2 234429216 234429216 single base substitution G A intron_variant MELA-AU 2 234429960 234429960 single base substitution G A downstream_gene_variant MELA-AU 2 234429960 234429960 single base substitution G A intron_variant MELA-AU 2 234430345 234430345 single base substitution G A downstream_gene_variant MELA-AU 2 234430345 234430345 single base substitution G A intron_variant MELA-AU 2 234431075 234431075 single base substitution G A downstream_gene_variant MELA-AU 2 234431075 234431075 single base substitution G A intron_variant MELA-AU 2 234431097 234431097 single base substitution T C downstream_gene_variant MELA-AU 2 234431097 234431097 single base substitution T C intron_variant MELA-AU 2 234431200 234431200 single base substitution T C downstream_gene_variant MELA-AU 2 234431200 234431200 single base substitution T C intron_variant MELA-AU 2 234431204 234431204 single base substitution G A downstream_gene_variant MELA-AU 2 234431204 234431204 single base substitution G A intron_variant MELA-AU 2 234431378 234431378 single base substitution G A downstream_gene_variant MELA-AU 2 234431378 234431378 single base substitution G A intron_variant MELA-AU 2 234431904 234431904 single base substitution G A downstream_gene_variant MELA-AU 2 234431904 234431904 single base substitution G A missense_variant P704S 2110C>T MELA-AU 2 234431904 234431904 single base substitution G A missense_variant P716S 2146C>T MELA-AU 2 234431904 234431904 single base substitution G A upstream_gene_variant MELA-AU 2 234433012 234433012 single base substitution G A downstream_gene_variant MELA-AU 2 234433012 234433012 single base substitution G A intron_variant MELA-AU 2 234433012 234433012 single base substitution G A upstream_gene_variant MELA-AU 2 234433267 234433267 single base substitution A T downstream_gene_variant MELA-AU 2 234433267 234433267 single base substitution A T intron_variant MELA-AU 2 234433267 234433267 single base substitution A T upstream_gene_variant MELA-AU 2 234433623 234433623 single base substitution A C downstream_gene_variant MELA-AU 2 234433623 234433623 single base substitution A C intron_variant MELA-AU 2 234433623 234433623 single base substitution A C upstream_gene_variant MELA-AU 2 234433703 234433703 single base substitution G A downstream_gene_variant MELA-AU 2 234433703 234433703 single base substitution G A intron_variant MELA-AU 2 234433703 234433703 single base substitution G A upstream_gene_variant MELA-AU 2 234434005 234434005 single base substitution C T downstream_gene_variant MELA-AU 2 234434005 234434005 single base substitution C T intron_variant MELA-AU 2 234434005 234434005 single base substitution C T upstream_gene_variant MELA-AU 2 234434245 234434245 single base substitution A T intron_variant MELA-AU 2 234434245 234434245 single base substitution A T upstream_gene_variant MELA-AU 2 234434355 234434355 single base substitution G A intron_variant MELA-AU 2 234434355 234434355 single base substitution G A upstream_gene_variant MELA-AU 2 234434530 234434530 single base substitution G A intron_variant MELA-AU 2 234434530 234434530 single base substitution G A upstream_gene_variant MELA-AU 2 234434582 234434582 single base substitution G A intron_variant MELA-AU 2 234434582 234434582 single base substitution G A upstream_gene_variant MELA-AU 2 234435159 234435159 single base substitution G A intron_variant MELA-AU 2 234435159 234435159 single base substitution G A upstream_gene_variant MELA-AU 2 234435996 234435996 single base substitution A T intron_variant MELA-AU 2 234435996 234435996 single base substitution A T upstream_gene_variant MELA-AU 2 234436013 234436013 single base substitution T A intron_variant MELA-AU 2 234436013 234436013 single base substitution T A upstream_gene_variant MELA-AU 2 234436410 234436410 single base substitution C T intron_variant MELA-AU 2 234436410 234436410 single base substitution C T upstream_gene_variant MELA-AU 2 234436923 234436923 single base substitution C T intron_variant MELA-AU 2 234436929 234436929 single base substitution G A intron_variant MELA-AU 2 234437041 234437041 single base substitution G A intron_variant MELA-AU 2 234438216 234438216 single base substitution G A intron_variant MELA-AU 2 234438664 234438664 single base substitution T G intron_variant MELA-AU 2 234439591 234439591 single base substitution G A intron_variant MELA-AU 2 234439665 234439665 single base substitution G A intron_variant MELA-AU 2 234439938 234439938 single base substitution A T intron_variant MELA-AU 2 234440773 234440773 single base substitution G A intron_variant MELA-AU 2 234441441 234441441 single base substitution G A intron_variant MELA-AU 2 234442105 234442105 single base substitution G A intron_variant MELA-AU 2 234442256 234442256 single base substitution G A intron_variant MELA-AU 2 234442256 234442256 single base substitution G A missense_variant P446L 1337C>T MELA-AU 2 234442256 234442256 single base substitution G A missense_variant P458L 1373C>T MELA-AU 2 234443602 234443603 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234443654 234443654 single base substitution G A intron_variant MELA-AU 2 234444203 234444203 single base substitution C T intron_variant MELA-AU 2 234444777 234444777 single base substitution G A intron_variant MELA-AU 2 234445068 234445068 single base substitution G A intron_variant MELA-AU 2 234445468 234445468 single base substitution A T intron_variant MELA-AU 2 234445758 234445758 single base substitution G A intron_variant MELA-AU 2 234445955 234445955 single base substitution G A intron_variant MELA-AU 2 234446373 234446373 deletion of <=200bp A - intron_variant MELA-AU 2 234446541 234446541 single base substitution G A intron_variant MELA-AU 2 234446658 234446658 single base substitution G A intron_variant MELA-AU 2 234446692 234446692 single base substitution T A intron_variant MELA-AU 2 234446855 234446855 single base substitution G A intron_variant MELA-AU 2 234447170 234447170 single base substitution G A intron_variant MELA-AU 2 234447484 234447484 single base substitution G A intron_variant MELA-AU 2 234447586 234447586 single base substitution G A intron_variant MELA-AU 2 234447594 234447594 single base substitution G A intron_variant MELA-AU 2 234447761 234447761 single base substitution G A intron_variant MELA-AU 2 234448179 234448179 single base substitution G A intron_variant MELA-AU 2 234448529 234448529 single base substitution G A intron_variant MELA-AU 2 234448703 234448703 single base substitution G A intron_variant MELA-AU 2 234449195 234449195 single base substitution G A intron_variant MELA-AU 2 234449293 234449293 single base substitution G A intron_variant MELA-AU 2 234449684 234449684 single base substitution C T intron_variant MELA-AU 2 234449698 234449698 single base substitution G A intron_variant MELA-AU 2 234450021 234450021 single base substitution G A intron_variant MELA-AU 2 234450045 234450045 single base substitution G A intron_variant MELA-AU 2 234450239 234450239 single base substitution C T intron_variant MELA-AU 2 234450339 234450339 single base substitution T A intron_variant MELA-AU 2 234450592 234450592 single base substitution G A intron_variant MELA-AU 2 234450785 234450785 single base substitution G A intron_variant MELA-AU 2 234451661 234451661 single base substitution G A intron_variant MELA-AU 2 234451661 234451661 single base substitution G A upstream_gene_variant MELA-AU 2 234452073 234452073 single base substitution G A intron_variant MELA-AU 2 234452073 234452073 single base substitution G A upstream_gene_variant MELA-AU 2 234452128 234452128 single base substitution T C intron_variant MELA-AU 2 234452128 234452128 single base substitution T C upstream_gene_variant MELA-AU 2 234452215 234452215 single base substitution G A intron_variant MELA-AU 2 234452215 234452215 single base substitution G A upstream_gene_variant MELA-AU 2 234452228 234452228 single base substitution G A intron_variant MELA-AU 2 234452228 234452228 single base substitution G A upstream_gene_variant MELA-AU 2 234452400 234452400 single base substitution A C intron_variant MELA-AU 2 234452400 234452400 single base substitution A C upstream_gene_variant MELA-AU 2 234452963 234452963 single base substitution C T intron_variant MELA-AU 2 234452963 234452963 single base substitution C T upstream_gene_variant MELA-AU 2 234453196 234453196 single base substitution C A intron_variant MELA-AU 2 234453196 234453196 single base substitution C A upstream_gene_variant MELA-AU 2 234453318 234453318 single base substitution G A intron_variant MELA-AU 2 234453318 234453318 single base substitution G A upstream_gene_variant MELA-AU 2 234454349 234454350 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 234454349 234454350 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 234454786 234454786 single base substitution G A intron_variant MELA-AU 2 234454786 234454786 single base substitution G A upstream_gene_variant MELA-AU 2 234455145 234455145 single base substitution G A intron_variant MELA-AU 2 234455145 234455145 single base substitution G A upstream_gene_variant MELA-AU 2 234456316 234456316 single base substitution G A intron_variant MELA-AU 2 234456548 234456548 single base substitution G A intron_variant MELA-AU 2 234458089 234458089 single base substitution C T downstream_gene_variant MELA-AU 2 234458089 234458089 single base substitution C T intron_variant MELA-AU 2 234458325 234458325 single base substitution C A downstream_gene_variant MELA-AU 2 234458325 234458325 single base substitution C A intron_variant MELA-AU 2 234458946 234458946 single base substitution C T downstream_gene_variant MELA-AU 2 234458946 234458946 single base substitution C T intron_variant MELA-AU 2 234459476 234459476 single base substitution A C downstream_gene_variant MELA-AU 2 234459476 234459476 single base substitution A C intron_variant MELA-AU 2 234459959 234459959 single base substitution G A downstream_gene_variant MELA-AU 2 234459959 234459959 single base substitution G A intron_variant MELA-AU 2 234460460 234460460 single base substitution C G downstream_gene_variant MELA-AU 2 234460460 234460460 single base substitution C G intron_variant MELA-AU 2 234460957 234460957 single base substitution A C downstream_gene_variant MELA-AU 2 234460957 234460957 single base substitution A C intron_variant MELA-AU 2 234460987 234460987 single base substitution T A downstream_gene_variant MELA-AU 2 234460987 234460987 single base substitution T A intron_variant MELA-AU 2 234461598 234461598 single base substitution A G downstream_gene_variant MELA-AU 2 234461598 234461598 single base substitution A G intron_variant MELA-AU 2 234461740 234461740 single base substitution G A downstream_gene_variant MELA-AU 2 234461740 234461740 single base substitution G A intron_variant MELA-AU 2 234461801 234461801 single base substitution T C downstream_gene_variant MELA-AU 2 234461801 234461801 single base substitution T C intron_variant MELA-AU 2 234461892 234461892 single base substitution G A downstream_gene_variant MELA-AU 2 234461892 234461892 single base substitution G A intron_variant MELA-AU 2 234461954 234461954 single base substitution G A downstream_gene_variant MELA-AU 2 234461954 234461954 single base substitution G A intron_variant MELA-AU 2 234462686 234462686 single base substitution C T downstream_gene_variant MELA-AU 2 234462686 234462686 single base substitution C T intron_variant MELA-AU 2 234462790 234462790 single base substitution G A downstream_gene_variant MELA-AU 2 234462790 234462790 single base substitution G A intron_variant MELA-AU 2 234462940 234462940 single base substitution G A downstream_gene_variant MELA-AU 2 234462940 234462940 single base substitution G A intron_variant MELA-AU 2 234464051 234464051 single base substitution G A downstream_gene_variant MELA-AU 2 234464051 234464051 single base substitution G A intron_variant MELA-AU 2 234464271 234464271 single base substitution A G downstream_gene_variant MELA-AU 2 234464271 234464271 single base substitution A G intron_variant MELA-AU 2 234464454 234464454 deletion of <=200bp A - downstream_gene_variant MELA-AU 2 234464454 234464454 deletion of <=200bp A - intron_variant MELA-AU 2 234464687 234464687 single base substitution G A downstream_gene_variant MELA-AU 2 234464687 234464687 single base substitution G A intron_variant MELA-AU 2 234465294 234465294 single base substitution A G downstream_gene_variant MELA-AU 2 234465294 234465294 single base substitution A G exon_variant MELA-AU 2 234465294 234465294 single base substitution A G intron_variant MELA-AU 2 234465456 234465456 single base substitution T A downstream_gene_variant MELA-AU 2 234465456 234465456 single base substitution T A exon_variant MELA-AU 2 234465456 234465456 single base substitution T A intron_variant MELA-AU 2 234466014 234466014 single base substitution C T downstream_gene_variant MELA-AU 2 234466014 234466014 single base substitution C T intron_variant MELA-AU 2 234466060 234466060 single base substitution G A downstream_gene_variant MELA-AU 2 234466060 234466060 single base substitution G A intron_variant MELA-AU 2 234466486 234466486 single base substitution G A downstream_gene_variant MELA-AU 2 234466486 234466486 single base substitution G A intron_variant MELA-AU 2 234466749 234466749 single base substitution C G downstream_gene_variant MELA-AU 2 234466749 234466749 single base substitution C G intron_variant MELA-AU 2 234466904 234466904 single base substitution G A downstream_gene_variant MELA-AU 2 234466904 234466904 single base substitution G A intron_variant MELA-AU 2 234467709 234467709 single base substitution G A downstream_gene_variant MELA-AU 2 234467709 234467709 single base substitution G A intron_variant MELA-AU 2 234468009 234468009 single base substitution G A downstream_gene_variant MELA-AU 2 234468009 234468009 single base substitution G A intron_variant MELA-AU 2 234468078 234468078 single base substitution T C downstream_gene_variant MELA-AU 2 234468078 234468078 single base substitution T C intron_variant MELA-AU 2 234468335 234468335 single base substitution G A downstream_gene_variant MELA-AU 2 234468335 234468335 single base substitution G A intron_variant MELA-AU 2 234468559 234468559 single base substitution G A downstream_gene_variant MELA-AU 2 234468559 234468559 single base substitution G A exon_variant MELA-AU 2 234468559 234468559 single base substitution G A synonymous_variant I105I 315C>T MELA-AU 2 234468559 234468559 single base substitution G A synonymous_variant I93I 279C>T MELA-AU 2 234469863 234469863 single base substitution A G intron_variant MELA-AU 2 234469916 234469916 single base substitution A C intron_variant MELA-AU 2 234470308 234470308 single base substitution G A intron_variant MELA-AU 2 234471232 234471233 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234471390 234471390 single base substitution C T exon_variant MELA-AU 2 234471390 234471390 single base substitution C T missense_variant D87N 259G>A MELA-AU 2 234471390 234471390 single base substitution C T missense_variant D99N 295G>A MELA-AU 2 234471719 234471719 single base substitution G A intron_variant MELA-AU 2 234471749 234471749 single base substitution G A intron_variant MELA-AU 2 234471848 234471848 single base substitution C T intron_variant MELA-AU 2 234471976 234471976 single base substitution C T intron_variant MELA-AU 2 234472094 234472094 single base substitution G A intron_variant MELA-AU 2 234473137 234473137 single base substitution A G intron_variant MELA-AU 2 234473578 234473578 single base substitution C T intron_variant MELA-AU 2 234474521 234474521 single base substitution A G intron_variant MELA-AU 2 234474521 234474521 single base substitution A G upstream_gene_variant MELA-AU 2 234474811 234474811 single base substitution G A intron_variant MELA-AU 2 234474811 234474811 single base substitution G A upstream_gene_variant MELA-AU 2 234474818 234474818 single base substitution G A intron_variant MELA-AU 2 234474818 234474818 single base substitution G A upstream_gene_variant MELA-AU 2 234474822 234474823 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 234474822 234474823 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 234474987 234474987 single base substitution A G intron_variant MELA-AU 2 234474987 234474987 single base substitution A G upstream_gene_variant MELA-AU 2 234475264 234475264 single base substitution G A intron_variant MELA-AU 2 234475264 234475264 single base substitution G A upstream_gene_variant MELA-AU 2 234475414 234475414 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 234475414 234475414 single base substitution G A exon_variant MELA-AU 2 234475414 234475414 single base substitution G A upstream_gene_variant MELA-AU 2 234475889 234475889 single base substitution G A upstream_gene_variant MELA-AU 2 234476362 234476362 single base substitution T C upstream_gene_variant MELA-AU 2 234477378 234477378 single base substitution C T upstream_gene_variant MELA-AU 2 234477612 234477612 single base substitution G A upstream_gene_variant MELA-AU 2 234477612 234477613 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 234477834 234477834 single base substitution G A upstream_gene_variant MELA-AU 2 234478060 234478060 single base substitution C T upstream_gene_variant MELA-AU 2 234478216 234478216 single base substitution G A upstream_gene_variant MELA-AU 2 234478508 234478508 single base substitution A C upstream_gene_variant MELA-AU 2 234478549 234478549 single base substitution C T upstream_gene_variant MELA-AU 2 234478816 234478816 single base substitution G A upstream_gene_variant MELA-AU 2 234479212 234479212 single base substitution G A upstream_gene_variant MELA-AU 2 234479269 234479269 single base substitution G C upstream_gene_variant MELA-AU 2 234479385 234479385 single base substitution C G upstream_gene_variant MELA-AU 2 234479636 234479636 single base substitution A C upstream_gene_variant MELA-AU 2 234479700 234479700 single base substitution G A upstream_gene_variant MELA-AU 2 234479722 234479722 single base substitution G A upstream_gene_variant ORCA-IN 2 234393133 234393134 deletion of <=200bp TC - downstream_gene_variant ORCA-IN 2 234393133 234393134 deletion of <=200bp TC - intron_variant ORCA-IN 2 234393133 234393134 deletion of <=200bp TC - upstream_gene_variant ORCA-IN 2 234429103 234429103 single base substitution G C intron_variant ORCA-IN 2 234469769 234469769 single base substitution T A intron_variant ORCA-IN 2 234472179 234472179 single base substitution C T intron_variant ORCA-IN 2 234472505 234472505 single base substitution G A intron_variant OV-AU 2 234385463 234385463 single base substitution G A 3_prime_UTR_variant OV-AU 2 234385463 234385463 single base substitution G A downstream_gene_variant OV-AU 2 234385463 234385463 single base substitution G A exon_variant OV-AU 2 234392859 234392859 single base substitution A G downstream_gene_variant OV-AU 2 234392859 234392859 single base substitution A G intron_variant OV-AU 2 234392859 234392859 single base substitution A G upstream_gene_variant OV-AU 2 234399818 234399818 single base substitution A C downstream_gene_variant OV-AU 2 234399818 234399818 single base substitution A C exon_variant OV-AU 2 234399818 234399818 single base substitution A C missense_variant S1002A 3004T>G OV-AU 2 234399818 234399818 single base substitution A C missense_variant S1014A 3040T>G OV-AU 2 234399818 234399818 single base substitution A C missense_variant S177A 529T>G OV-AU 2 234399818 234399818 single base substitution A C upstream_gene_variant OV-AU 2 234405331 234405331 single base substitution T C downstream_gene_variant OV-AU 2 234405331 234405331 single base substitution T C intron_variant OV-AU 2 234405331 234405331 single base substitution T C upstream_gene_variant OV-AU 2 234407733 234407733 single base substitution C A intron_variant OV-AU 2 234407975 234407975 single base substitution G C intron_variant OV-AU 2 234411856 234411856 single base substitution T C intron_variant OV-AU 2 234413247 234413247 single base substitution A C intron_variant OV-AU 2 234419042 234419042 single base substitution T C intron_variant OV-AU 2 234421517 234421517 single base substitution C G exon_variant OV-AU 2 234421517 234421517 single base substitution C G intron_variant OV-AU 2 234421517 234421517 single base substitution C G upstream_gene_variant OV-AU 2 234422254 234422254 single base substitution G A intron_variant OV-AU 2 234422254 234422254 single base substitution G A upstream_gene_variant OV-AU 2 234422668 234422668 single base substitution G A intron_variant OV-AU 2 234422668 234422668 single base substitution G A upstream_gene_variant OV-AU 2 234422779 234422779 single base substitution C T intron_variant OV-AU 2 234422779 234422779 single base substitution C T upstream_gene_variant OV-AU 2 234426211 234426211 single base substitution T G downstream_gene_variant OV-AU 2 234426211 234426211 single base substitution T G intron_variant OV-AU 2 234426211 234426211 single base substitution T G upstream_gene_variant OV-AU 2 234435479 234435479 single base substitution G C intron_variant OV-AU 2 234435479 234435479 single base substitution G C upstream_gene_variant OV-AU 2 234438799 234438799 single base substitution G C intron_variant OV-AU 2 234454890 234454890 single base substitution G A intron_variant OV-AU 2 234454890 234454890 single base substitution G A upstream_gene_variant OV-AU 2 234468094 234468094 single base substitution C A downstream_gene_variant OV-AU 2 234468094 234468094 single base substitution C A intron_variant OV-AU 2 234473354 234473354 single base substitution A T intron_variant OV-US 2 234431861 234431861 single base substitution C G downstream_gene_variant OV-US 2 234431861 234431861 single base substitution C G missense_variant R13T 38G>C OV-US 2 234431861 234431861 single base substitution C G missense_variant R718T 2153G>C OV-US 2 234431861 234431861 single base substitution C G missense_variant R730T 2189G>C PACA-AU 2 234385095 234385095 single base substitution G C 3_prime_UTR_variant PACA-AU 2 234385095 234385095 single base substitution G C downstream_gene_variant PACA-AU 2 234385095 234385095 single base substitution G C exon_variant PACA-AU 2 234393130 234393130 single base substitution T C downstream_gene_variant PACA-AU 2 234393130 234393130 single base substitution T C intron_variant PACA-AU 2 234393130 234393130 single base substitution T C upstream_gene_variant PACA-AU 2 234396525 234396525 single base substitution G A 3_prime_UTR_variant PACA-AU 2 234396525 234396525 single base substitution G A downstream_gene_variant PACA-AU 2 234396525 234396525 single base substitution G A intron_variant PACA-AU 2 234399016 234399016 single base substitution C T downstream_gene_variant PACA-AU 2 234399016 234399016 single base substitution C T intron_variant PACA-AU 2 234399016 234399016 single base substitution C T upstream_gene_variant PACA-AU 2 234403594 234403594 single base substitution A T downstream_gene_variant PACA-AU 2 234403594 234403594 single base substitution A T intron_variant PACA-AU 2 234403594 234403594 single base substitution A T upstream_gene_variant PACA-AU 2 234437425 234437425 single base substitution T C intron_variant PACA-AU 2 234437797 234437797 single base substitution C T intron_variant PACA-AU 2 234444127 234444127 single base substitution C A intron_variant PACA-AU 2 234444404 234444404 single base substitution G T intron_variant PACA-AU 2 234450774 234450774 single base substitution A G intron_variant PACA-AU 2 234454860 234454860 single base substitution G T intron_variant PACA-AU 2 234454860 234454860 single base substitution G T upstream_gene_variant PACA-AU 2 234456384 234456384 single base substitution G C intron_variant PACA-AU 2 234463743 234463743 single base substitution G C downstream_gene_variant PACA-AU 2 234463743 234463743 single base substitution G C intron_variant PACA-AU 2 234467857 234467857 single base substitution A G downstream_gene_variant PACA-AU 2 234467857 234467857 single base substitution A G intron_variant PACA-AU 2 234468547 234468547 insertion of <=200bp - T downstream_gene_variant PACA-AU 2 234468547 234468547 insertion of <=200bp - T exon_variant PACA-AU 2 234468547 234468547 insertion of <=200bp - T frameshift_variant L109L? PACA-AU 2 234468547 234468547 insertion of <=200bp - T frameshift_variant L97L? PACA-AU 2 234475065 234475065 single base substitution G T intron_variant PACA-AU 2 234475065 234475065 single base substitution G T upstream_gene_variant PACA-AU 2 234475350 234475350 single base substitution G A 5_prime_UTR_variant PACA-AU 2 234475350 234475350 single base substitution G A exon_variant PACA-AU 2 234475350 234475350 single base substitution G A upstream_gene_variant PACA-AU 2 234478589 234478589 single base substitution G A upstream_gene_variant PACA-AU 2 234479261 234479261 single base substitution G T upstream_gene_variant PACA-CA 2 234380298 234380304 deletion of <=200bp TTTAAAA - downstream_gene_variant PACA-CA 2 234386031 234386031 single base substitution G A 3_prime_UTR_variant PACA-CA 2 234386031 234386031 single base substitution G A downstream_gene_variant PACA-CA 2 234386031 234386031 single base substitution G A exon_variant PACA-CA 2 234386735 234386735 single base substitution G A downstream_gene_variant PACA-CA 2 234386735 234386735 single base substitution G A intron_variant PACA-CA 2 234387313 234387313 single base substitution C T downstream_gene_variant PACA-CA 2 234387313 234387313 single base substitution C T intron_variant PACA-CA 2 234392289 234392289 single base substitution T G downstream_gene_variant PACA-CA 2 234392289 234392289 single base substitution T G intron_variant PACA-CA 2 234392289 234392289 single base substitution T G upstream_gene_variant PACA-CA 2 234393860 234393860 single base substitution G A downstream_gene_variant PACA-CA 2 234393860 234393860 single base substitution G A intron_variant PACA-CA 2 234393860 234393860 single base substitution G A upstream_gene_variant PACA-CA 2 234395792 234395792 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 234395792 234395792 insertion of <=200bp - A intron_variant PACA-CA 2 234402508 234402508 single base substitution C T downstream_gene_variant PACA-CA 2 234402508 234402508 single base substitution C T intron_variant PACA-CA 2 234402508 234402508 single base substitution C T upstream_gene_variant PACA-CA 2 234402647 234402647 single base substitution C T downstream_gene_variant PACA-CA 2 234402647 234402647 single base substitution C T intron_variant PACA-CA 2 234402647 234402647 single base substitution C T upstream_gene_variant PACA-CA 2 234402664 234402664 single base substitution C G downstream_gene_variant PACA-CA 2 234402664 234402664 single base substitution C G intron_variant PACA-CA 2 234402664 234402664 single base substitution C G upstream_gene_variant PACA-CA 2 234403114 234403114 single base substitution C A downstream_gene_variant PACA-CA 2 234403114 234403114 single base substitution C A intron_variant PACA-CA 2 234403114 234403114 single base substitution C A upstream_gene_variant PACA-CA 2 234404161 234404161 single base substitution C T downstream_gene_variant PACA-CA 2 234404161 234404161 single base substitution C T intron_variant PACA-CA 2 234404161 234404161 single base substitution C T upstream_gene_variant PACA-CA 2 234404286 234404286 single base substitution C A downstream_gene_variant PACA-CA 2 234404286 234404286 single base substitution C A intron_variant PACA-CA 2 234404286 234404286 single base substitution C A upstream_gene_variant PACA-CA 2 234406619 234406619 single base substitution C A intron_variant PACA-CA 2 234406619 234406619 single base substitution C A upstream_gene_variant PACA-CA 2 234407314 234407314 single base substitution G A intron_variant PACA-CA 2 234408162 234408162 single base substitution T A intron_variant PACA-CA 2 234411029 234411029 single base substitution A T intron_variant PACA-CA 2 234413127 234413127 single base substitution A G intron_variant PACA-CA 2 234415552 234415552 single base substitution C A intron_variant PACA-CA 2 234423142 234423142 single base substitution T C downstream_gene_variant PACA-CA 2 234423142 234423142 single base substitution T C intron_variant PACA-CA 2 234423142 234423142 single base substitution T C upstream_gene_variant PACA-CA 2 234423218 234423218 single base substitution G T downstream_gene_variant PACA-CA 2 234423218 234423218 single base substitution G T intron_variant PACA-CA 2 234423218 234423218 single base substitution G T upstream_gene_variant PACA-CA 2 234423941 234423941 single base substitution G A downstream_gene_variant PACA-CA 2 234423941 234423941 single base substitution G A intron_variant PACA-CA 2 234423941 234423941 single base substitution G A upstream_gene_variant PACA-CA 2 234424128 234424128 single base substitution T A downstream_gene_variant PACA-CA 2 234424128 234424128 single base substitution T A intron_variant PACA-CA 2 234424128 234424128 single base substitution T A upstream_gene_variant PACA-CA 2 234426990 234426990 single base substitution A T downstream_gene_variant PACA-CA 2 234426990 234426990 single base substitution A T intron_variant PACA-CA 2 234428968 234428968 single base substitution G C intron_variant PACA-CA 2 234441827 234441827 single base substitution G A intron_variant PACA-CA 2 234447511 234447511 insertion of <=200bp - A intron_variant PACA-CA 2 234447675 234447675 deletion of <=200bp A - intron_variant PACA-CA 2 234452956 234452956 single base substitution C T intron_variant PACA-CA 2 234452956 234452956 single base substitution C T upstream_gene_variant PACA-CA 2 234453729 234453733 deletion of <=200bp AAGCC - intron_variant PACA-CA 2 234453729 234453733 deletion of <=200bp AAGCC - upstream_gene_variant PACA-CA 2 234458982 234458982 single base substitution T G downstream_gene_variant PACA-CA 2 234458982 234458982 single base substitution T G intron_variant PACA-CA 2 234460972 234460972 single base substitution T A downstream_gene_variant PACA-CA 2 234460972 234460972 single base substitution T A intron_variant PACA-CA 2 234467030 234467030 single base substitution C A downstream_gene_variant PACA-CA 2 234467030 234467030 single base substitution C A intron_variant PACA-CA 2 234469748 234469748 single base substitution C T intron_variant PACA-CA 2 234472155 234472155 single base substitution C T intron_variant PACA-CA 2 234475056 234475056 single base substitution A G intron_variant PACA-CA 2 234475056 234475056 single base substitution A G upstream_gene_variant PACA-CA 2 234476336 234476336 single base substitution C T upstream_gene_variant PACA-CA 2 234477212 234477212 single base substitution T A upstream_gene_variant PAEN-AU 2 234407799 234407799 single base substitution A C intron_variant PAEN-AU 2 234429675 234429675 single base substitution C T downstream_gene_variant PAEN-AU 2 234429675 234429675 single base substitution C T missense_variant E57K 169G>A PAEN-AU 2 234429675 234429675 single base substitution C T missense_variant E762K 2284G>A PAEN-AU 2 234429675 234429675 single base substitution C T missense_variant E774K 2320G>A PAEN-AU 2 234478970 234478970 single base substitution A C upstream_gene_variant PAEN-IT 2 234388766 234388766 single base substitution C T downstream_gene_variant PAEN-IT 2 234388766 234388766 single base substitution C T intron_variant PAEN-IT 2 234425157 234425157 single base substitution C A downstream_gene_variant PAEN-IT 2 234425157 234425157 single base substitution C A intron_variant PAEN-IT 2 234425157 234425157 single base substitution C A upstream_gene_variant PAEN-IT 2 234441153 234441153 single base substitution C T intron_variant PAEN-IT 2 234447329 234447329 single base substitution C A intron_variant PAEN-IT 2 234477834 234477834 single base substitution G T upstream_gene_variant PBCA-DE 2 234383957 234383957 single base substitution C T downstream_gene_variant PBCA-DE 2 234387458 234387458 single base substitution G A downstream_gene_variant PBCA-DE 2 234387458 234387458 single base substitution G A intron_variant PBCA-DE 2 234388275 234388276 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 2 234388275 234388276 deletion of <=200bp GT - intron_variant PBCA-DE 2 234394237 234394237 insertion of <=200bp - T 3_prime_UTR_variant PBCA-DE 2 234394237 234394237 insertion of <=200bp - T downstream_gene_variant PBCA-DE 2 234394237 234394237 insertion of <=200bp - T exon_variant PBCA-DE 2 234394237 234394237 insertion of <=200bp - T frameshift_variant K1147K? PBCA-DE 2 234394237 234394237 insertion of <=200bp - T frameshift_variant K114K? PBCA-DE 2 234394237 234394237 insertion of <=200bp - T frameshift_variant K1159K? PBCA-DE 2 234394237 234394237 insertion of <=200bp - T upstream_gene_variant PBCA-DE 2 234394312 234394312 single base substitution C A downstream_gene_variant PBCA-DE 2 234394312 234394312 single base substitution C A intron_variant PBCA-DE 2 234394312 234394312 single base substitution C A upstream_gene_variant PBCA-DE 2 234398196 234398196 deletion of <=200bp A - downstream_gene_variant PBCA-DE 2 234398196 234398196 deletion of <=200bp A - exon_variant PBCA-DE 2 234398196 234398196 deletion of <=200bp A - intron_variant PBCA-DE 2 234398196 234398196 deletion of <=200bp A - upstream_gene_variant PBCA-DE 2 234416277 234416277 single base substitution A G intron_variant PBCA-DE 2 234419515 234419515 single base substitution C T intron_variant PBCA-DE 2 234434780 234434805 deletion of <=200bp TAGTCATTCTCTACAATACCATAAGG - intron_variant PBCA-DE 2 234434780 234434805 deletion of <=200bp TAGTCATTCTCTACAATACCATAAGG - upstream_gene_variant PBCA-DE 2 234436762 234436762 deletion of <=200bp T - intron_variant PBCA-DE 2 234436762 234436762 deletion of <=200bp T - upstream_gene_variant PBCA-DE 2 234469484 234469484 deletion of <=200bp A - 3_prime_UTR_variant PBCA-DE 2 234469484 234469484 deletion of <=200bp A - intron_variant PBCA-DE 2 234478428 234478428 single base substitution T C upstream_gene_variant PBCA-DE 2 234479872 234479872 deletion of <=200bp T - upstream_gene_variant PBCA-DE 2 234480052 234480052 single base substitution A G upstream_gene_variant PRAD-CA 2 234391241 234391241 single base substitution G T downstream_gene_variant PRAD-CA 2 234391241 234391241 single base substitution G T intron_variant PRAD-CA 2 234391241 234391241 single base substitution G T upstream_gene_variant PRAD-CA 2 234393134 234393134 single base substitution C T downstream_gene_variant PRAD-CA 2 234393134 234393134 single base substitution C T intron_variant PRAD-CA 2 234393134 234393134 single base substitution C T upstream_gene_variant PRAD-CA 2 234420955 234420955 single base substitution G T 5_prime_UTR_variant PRAD-CA 2 234420955 234420955 single base substitution G T intron_variant PRAD-CA 2 234420955 234420955 single base substitution G T upstream_gene_variant PRAD-CA 2 234440685 234440685 single base substitution G A intron_variant PRAD-CA 2 234440714 234440714 single base substitution G C intron_variant PRAD-CA 2 234450873 234450873 single base substitution T C intron_variant PRAD-CA 2 234453560 234453560 single base substitution C A intron_variant PRAD-CA 2 234453560 234453560 single base substitution C A upstream_gene_variant PRAD-CA 2 234466951 234466951 single base substitution G A downstream_gene_variant PRAD-CA 2 234466951 234466951 single base substitution G A intron_variant PRAD-UK 2 234399481 234399481 single base substitution G A downstream_gene_variant PRAD-UK 2 234399481 234399481 single base substitution G A intron_variant PRAD-UK 2 234399481 234399481 single base substitution G A upstream_gene_variant PRAD-UK 2 234420790 234420790 single base substitution G A 5_prime_UTR_variant PRAD-UK 2 234420790 234420790 single base substitution G A intron_variant PRAD-UK 2 234420790 234420790 single base substitution G A upstream_gene_variant PRAD-UK 2 234433582 234433582 deletion of <=200bp A - downstream_gene_variant PRAD-UK 2 234433582 234433582 deletion of <=200bp A - intron_variant PRAD-UK 2 234433582 234433582 deletion of <=200bp A - upstream_gene_variant PRAD-UK 2 234446389 234446389 single base substitution A G intron_variant PRAD-UK 2 234455125 234455125 single base substitution A C intron_variant PRAD-UK 2 234455125 234455125 single base substitution A C upstream_gene_variant PRAD-UK 2 234472548 234472548 single base substitution C G intron_variant PRAD-UK 2 234476362 234476362 single base substitution T C upstream_gene_variant PRAD-UK 2 234479872 234479872 insertion of <=200bp - T upstream_gene_variant READ-US 2 234399874 234399874 single base substitution A C downstream_gene_variant READ-US 2 234399874 234399874 single base substitution A C exon_variant READ-US 2 234399874 234399874 single base substitution A C missense_variant L158R 473T>G READ-US 2 234399874 234399874 single base substitution A C missense_variant L983R 2948T>G READ-US 2 234399874 234399874 single base substitution A C missense_variant L995R 2984T>G READ-US 2 234399874 234399874 single base substitution A C upstream_gene_variant RECA-EU 2 234406328 234406328 single base substitution C A intron_variant RECA-EU 2 234406328 234406328 single base substitution C A upstream_gene_variant RECA-EU 2 234408400 234408400 single base substitution T C intron_variant RECA-EU 2 234415400 234415400 single base substitution A G intron_variant RECA-EU 2 234415496 234415496 single base substitution G A intron_variant RECA-EU 2 234419820 234419820 single base substitution A C intron_variant RECA-EU 2 234427808 234427808 single base substitution G C downstream_gene_variant RECA-EU 2 234427808 234427808 single base substitution G C intron_variant RECA-EU 2 234440434 234440434 single base substitution T C intron_variant RECA-EU 2 234441544 234441544 single base substitution C T intron_variant RECA-EU 2 234451029 234451029 single base substitution G A intron_variant RECA-EU 2 234456586 234456586 single base substitution A T intron_variant RECA-EU 2 234460262 234460262 single base substitution G A downstream_gene_variant RECA-EU 2 234460262 234460262 single base substitution G A intron_variant RECA-EU 2 234468007 234468007 single base substitution G T downstream_gene_variant RECA-EU 2 234468007 234468007 single base substitution G T intron_variant SKCA-BR 2 234379851 234379851 single base substitution G A downstream_gene_variant SKCA-BR 2 234383278 234383278 single base substitution G A downstream_gene_variant SKCA-BR 2 234386139 234386139 single base substitution G A downstream_gene_variant SKCA-BR 2 234386139 234386139 single base substitution G A exon_variant SKCA-BR 2 234386139 234386139 single base substitution G A missense_variant L1203F 3607C>T SKCA-BR 2 234386139 234386139 single base substitution G A missense_variant L1215F 3643C>T SKCA-BR 2 234387454 234387454 single base substitution T A downstream_gene_variant SKCA-BR 2 234387454 234387454 single base substitution T A intron_variant SKCA-BR 2 234388871 234388871 single base substitution A G downstream_gene_variant SKCA-BR 2 234388871 234388871 single base substitution A G intron_variant SKCA-BR 2 234390733 234390733 single base substitution A G downstream_gene_variant SKCA-BR 2 234390733 234390733 single base substitution A G intron_variant SKCA-BR 2 234390733 234390733 single base substitution A G upstream_gene_variant SKCA-BR 2 234393120 234393121 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 234393120 234393121 deletion of <=200bp CT - intron_variant SKCA-BR 2 234393120 234393121 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 234403566 234403566 single base substitution A T downstream_gene_variant SKCA-BR 2 234403566 234403566 single base substitution A T intron_variant SKCA-BR 2 234403566 234403566 single base substitution A T upstream_gene_variant SKCA-BR 2 234405844 234405844 single base substitution G A intron_variant SKCA-BR 2 234405844 234405844 single base substitution G A upstream_gene_variant SKCA-BR 2 234407033 234407033 insertion of <=200bp - CA intron_variant SKCA-BR 2 234407033 234407033 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 234407805 234407805 single base substitution A C intron_variant SKCA-BR 2 234410541 234410541 single base substitution C T intron_variant SKCA-BR 2 234412777 234412777 single base substitution A G intron_variant SKCA-BR 2 234415400 234415400 insertion of <=200bp - AG intron_variant SKCA-BR 2 234421283 234421283 insertion of <=200bp - AATATTATTTTTCTTAGT exon_variant SKCA-BR 2 234421283 234421283 insertion of <=200bp - AATATTATTTTTCTTAGT intron_variant SKCA-BR 2 234421283 234421283 insertion of <=200bp - AATATTATTTTTCTTAGT upstream_gene_variant SKCA-BR 2 234424876 234424876 single base substitution A G downstream_gene_variant SKCA-BR 2 234424876 234424876 single base substitution A G intron_variant SKCA-BR 2 234424876 234424876 single base substitution A G upstream_gene_variant SKCA-BR 2 234426083 234426083 single base substitution A T downstream_gene_variant SKCA-BR 2 234426083 234426083 single base substitution A T intron_variant SKCA-BR 2 234426083 234426083 single base substitution A T upstream_gene_variant SKCA-BR 2 234427525 234427525 single base substitution G A downstream_gene_variant SKCA-BR 2 234427525 234427525 single base substitution G A intron_variant SKCA-BR 2 234430373 234430373 single base substitution G A downstream_gene_variant SKCA-BR 2 234430373 234430373 single base substitution G A intron_variant SKCA-BR 2 234433935 234433935 single base substitution T A downstream_gene_variant SKCA-BR 2 234433935 234433935 single base substitution T A intron_variant SKCA-BR 2 234433935 234433935 single base substitution T A upstream_gene_variant SKCA-BR 2 234438538 234438538 single base substitution C T intron_variant SKCA-BR 2 234440912 234440912 single base substitution C T intron_variant SKCA-BR 2 234448793 234448793 single base substitution C A intron_variant SKCA-BR 2 234448920 234448920 single base substitution G C intron_variant SKCA-BR 2 234454058 234454058 single base substitution T G intron_variant SKCA-BR 2 234454058 234454058 single base substitution T G upstream_gene_variant SKCA-BR 2 234454191 234454191 single base substitution G A intron_variant SKCA-BR 2 234454191 234454191 single base substitution G A upstream_gene_variant SKCA-BR 2 234461090 234461090 single base substitution C G downstream_gene_variant SKCA-BR 2 234461090 234461090 single base substitution C G intron_variant SKCA-BR 2 234462195 234462195 single base substitution T C downstream_gene_variant SKCA-BR 2 234462195 234462195 single base substitution T C intron_variant SKCA-BR 2 234463113 234463113 single base substitution G A downstream_gene_variant SKCA-BR 2 234463113 234463113 single base substitution G A exon_variant SKCA-BR 2 234463113 234463113 single base substitution G A synonymous_variant L202L 606C>T SKCA-BR 2 234463113 234463113 single base substitution G A synonymous_variant L214L 642C>T SKCA-BR 2 234465939 234465939 single base substitution C T downstream_gene_variant SKCA-BR 2 234465939 234465939 single base substitution C T intron_variant SKCA-BR 2 234466647 234466647 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 2 234466647 234466647 insertion of <=200bp - CA intron_variant SKCA-BR 2 234467542 234467542 single base substitution G A downstream_gene_variant SKCA-BR 2 234467542 234467542 single base substitution G A intron_variant SKCA-BR 2 234469258 234469258 single base substitution G A downstream_gene_variant SKCA-BR 2 234469258 234469258 single base substitution G A intron_variant SKCA-BR 2 234470088 234470088 single base substitution A T intron_variant SKCA-BR 2 234470537 234470537 single base substitution C T intron_variant SKCA-BR 2 234470846 234470846 single base substitution C A intron_variant SKCA-BR 2 234470869 234470869 single base substitution C G intron_variant SKCA-BR 2 234470972 234470972 single base substitution C A intron_variant SKCA-BR 2 234471146 234471146 single base substitution G T intron_variant SKCA-BR 2 234472341 234472341 single base substitution T C intron_variant SKCA-BR 2 234475851 234475851 single base substitution T G upstream_gene_variant SKCA-BR 2 234475877 234475877 single base substitution T G upstream_gene_variant SKCA-BR 2 234477148 234477148 single base substitution T C upstream_gene_variant SKCA-BR 2 234477248 234477248 single base substitution G A upstream_gene_variant SKCA-BR 2 234478887 234478887 single base substitution C T upstream_gene_variant SKCA-BR 2 234479201 234479201 single base substitution C A upstream_gene_variant SKCM-US 2 234402079 234402079 single base substitution G A downstream_gene_variant SKCM-US 2 234402079 234402079 single base substitution G A exon_variant SKCM-US 2 234402079 234402079 single base substitution G A missense_variant S144F 431C>T SKCM-US 2 234402079 234402079 single base substitution G A missense_variant S145F 434C>T SKCM-US 2 234402079 234402079 single base substitution G A missense_variant S969F 2906C>T SKCM-US 2 234402079 234402079 single base substitution G A missense_variant S981F 2942C>T SKCM-US 2 234402079 234402079 single base substitution G A upstream_gene_variant SKCM-US 2 234402154 234402154 single base substitution G A downstream_gene_variant SKCM-US 2 234402154 234402154 single base substitution G A missense_variant P119L 356C>T SKCM-US 2 234402154 234402154 single base substitution G A missense_variant P120L 359C>T SKCM-US 2 234402154 234402154 single base substitution G A missense_variant P944L 2831C>T SKCM-US 2 234402154 234402154 single base substitution G A missense_variant P956L 2867C>T SKCM-US 2 234402154 234402154 single base substitution G A upstream_gene_variant SKCM-US 2 234402192 234402192 single base substitution G A downstream_gene_variant SKCM-US 2 234402192 234402192 single base substitution G A synonymous_variant F106F 318C>T SKCM-US 2 234402192 234402192 single base substitution G A synonymous_variant F107F 321C>T SKCM-US 2 234402192 234402192 single base substitution G A synonymous_variant F931F 2793C>T SKCM-US 2 234402192 234402192 single base substitution G A synonymous_variant F943F 2829C>T SKCM-US 2 234402192 234402192 single base substitution G A upstream_gene_variant SKCM-US 2 234431968 234431968 single base substitution G A downstream_gene_variant SKCM-US 2 234431968 234431968 single base substitution G A synonymous_variant I682I 2046C>T SKCM-US 2 234431968 234431968 single base substitution G A synonymous_variant I694I 2082C>T SKCM-US 2 234431968 234431968 single base substitution G A upstream_gene_variant SKCM-US 2 234434202 234434202 single base substitution C T exon_variant SKCM-US 2 234434202 234434202 single base substitution C T missense_variant E577K 1729G>A SKCM-US 2 234434202 234434202 single base substitution C T missense_variant E589K 1765G>A SKCM-US 2 234434202 234434202 single base substitution C T upstream_gene_variant SKCM-US 2 234436094 234436094 single base substitution T A exon_variant SKCM-US 2 234436094 234436094 single base substitution T A stop_gained K561* 1681A>T SKCM-US 2 234436094 234436094 single base substitution T A stop_gained K573* 1717A>T SKCM-US 2 234436094 234436094 single base substitution T A upstream_gene_variant SKCM-US 2 234442224 234442224 single base substitution G A intron_variant SKCM-US 2 234442224 234442224 single base substitution G A stop_gained Q457* 1369C>T SKCM-US 2 234442224 234442224 single base substitution G A stop_gained Q469* 1405C>T SKCM-US 2 234442296 234442296 single base substitution G A intron_variant SKCM-US 2 234442296 234442296 single base substitution G A missense_variant P433S 1297C>T SKCM-US 2 234442296 234442296 single base substitution G A missense_variant P445S 1333C>T SKCM-US 2 234442325 234442325 single base substitution C T intron_variant SKCM-US 2 234442325 234442325 single base substitution C T missense_variant R423K 1268G>A SKCM-US 2 234442325 234442325 single base substitution C T missense_variant R435K 1304G>A SKCM-US 2 234442328 234442328 single base substitution T A intron_variant SKCM-US 2 234442328 234442328 single base substitution T A missense_variant Q422L 1265A>T SKCM-US 2 234442328 234442328 single base substitution T A missense_variant Q434L 1301A>T SKCM-US 2 234460057 234460057 single base substitution G A downstream_gene_variant SKCM-US 2 234460057 234460057 single base substitution G A missense_variant P268S 802C>T SKCM-US 2 234460057 234460057 single base substitution G A missense_variant P280S 838C>T SKCM-US 2 234460143 234460143 single base substitution G A downstream_gene_variant SKCM-US 2 234460143 234460143 single base substitution G A missense_variant P239L 716C>T SKCM-US 2 234460143 234460143 single base substitution G A missense_variant P251L 752C>T SKCM-US 2 234465579 234465579 single base substitution G A downstream_gene_variant SKCM-US 2 234465579 234465579 single base substitution G A exon_variant SKCM-US 2 234465579 234465579 single base substitution G A synonymous_variant D156D 468C>T SKCM-US 2 234465579 234465579 single base substitution G A synonymous_variant D168D 504C>T SKCM-US 2 234465632 234465632 single base substitution G A downstream_gene_variant SKCM-US 2 234465632 234465632 single base substitution G A exon_variant SKCM-US 2 234465632 234465632 single base substitution G A stop_gained R139* 415C>T SKCM-US 2 234465632 234465632 single base substitution G A stop_gained R151* 451C>T SKCM-US 2 234468559 234468559 single base substitution G A downstream_gene_variant SKCM-US 2 234468559 234468559 single base substitution G A exon_variant SKCM-US 2 234468559 234468559 single base substitution G A synonymous_variant I105I 315C>T SKCM-US 2 234468559 234468559 single base substitution G A synonymous_variant I93I 279C>T STAD-US 2 234394260 234394260 single base substitution T C 3_prime_UTR_variant STAD-US 2 234394260 234394260 single base substitution T C downstream_gene_variant STAD-US 2 234394260 234394260 single base substitution T C exon_variant STAD-US 2 234394260 234394260 single base substitution T C missense_variant T107A 319A>G STAD-US 2 234394260 234394260 single base substitution T C missense_variant T1140A 3418A>G STAD-US 2 234394260 234394260 single base substitution T C missense_variant T1152A 3454A>G STAD-US 2 234394260 234394260 single base substitution T C upstream_gene_variant STAD-US 2 234394560 234394560 single base substitution G T 3_prime_UTR_variant STAD-US 2 234394560 234394560 single base substitution G T downstream_gene_variant STAD-US 2 234394560 234394560 single base substitution G T exon_variant STAD-US 2 234394560 234394560 single base substitution G T synonymous_variant A1086A 3258C>A STAD-US 2 234394560 234394560 single base substitution G T synonymous_variant A1098A 3294C>A STAD-US 2 234394560 234394560 single base substitution G T synonymous_variant A53A 159C>A STAD-US 2 234394560 234394560 single base substitution G T upstream_gene_variant STAD-US 2 234398032 234398032 single base substitution C T downstream_gene_variant STAD-US 2 234398032 234398032 single base substitution C T exon_variant STAD-US 2 234398032 234398032 single base substitution C T missense_variant R1036Q 3107G>A STAD-US 2 234398032 234398032 single base substitution C T missense_variant R1048Q 3143G>A STAD-US 2 234398032 234398032 single base substitution C T missense_variant R211Q 632G>A STAD-US 2 234398032 234398032 single base substitution C T missense_variant R25Q 74G>A STAD-US 2 234405468 234405468 single base substitution A G exon_variant STAD-US 2 234405468 234405468 single base substitution A G missense_variant L83P 248T>C STAD-US 2 234405468 234405468 single base substitution A G missense_variant L84P 251T>C STAD-US 2 234405468 234405468 single base substitution A G missense_variant L908P 2723T>C STAD-US 2 234405468 234405468 single base substitution A G missense_variant L920P 2759T>C STAD-US 2 234405468 234405468 single base substitution A G upstream_gene_variant STAD-US 2 234431906 234431906 single base substitution A T downstream_gene_variant STAD-US 2 234431906 234431906 single base substitution A T missense_variant I703N 2108T>A STAD-US 2 234431906 234431906 single base substitution A T missense_variant I715N 2144T>A STAD-US 2 234431906 234431906 single base substitution A T upstream_gene_variant STAD-US 2 234436178 234436178 single base substitution G T exon_variant STAD-US 2 234436178 234436178 single base substitution G T missense_variant L533M 1597C>A STAD-US 2 234436178 234436178 single base substitution G T missense_variant L545M 1633C>A STAD-US 2 234436178 234436178 single base substitution G T upstream_gene_variant STAD-US 2 234442369 234442369 single base substitution A T intron_variant STAD-US 2 234442369 234442369 single base substitution A T synonymous_variant R408R 1224T>A STAD-US 2 234442369 234442369 single base substitution A T synonymous_variant R420R 1260T>A STAD-US 2 234463061 234463061 single base substitution A G downstream_gene_variant STAD-US 2 234463061 234463061 single base substitution A G exon_variant STAD-US 2 234463061 234463061 single base substitution A G missense_variant C220R 658T>C STAD-US 2 234463061 234463061 single base substitution A G missense_variant C232R 694T>C THCA-US 2 234389870 234389870 single base substitution C T downstream_gene_variant THCA-US 2 234389870 234389870 single base substitution C T exon_variant THCA-US 2 234389870 234389870 single base substitution C T missense_variant R1192Q 3575G>A THCA-US 2 234389870 234389870 single base substitution C T missense_variant R1204Q 3611G>A UCEC-US 2 234394246 234394246 single base substitution C A 3_prime_UTR_variant UCEC-US 2 234394246 234394246 single base substitution C A downstream_gene_variant UCEC-US 2 234394246 234394246 single base substitution C A exon_variant UCEC-US 2 234394246 234394246 single base substitution C A missense_variant K111N 333G>T UCEC-US 2 234394246 234394246 single base substitution C A missense_variant K1144N 3432G>T UCEC-US 2 234394246 234394246 single base substitution C A missense_variant K1156N 3468G>T UCEC-US 2 234394246 234394246 single base substitution C A upstream_gene_variant UCEC-US 2 234394437 234394437 single base substitution G A 3_prime_UTR_variant UCEC-US 2 234394437 234394437 single base substitution G A downstream_gene_variant UCEC-US 2 234394437 234394437 single base substitution G A exon_variant UCEC-US 2 234394437 234394437 single base substitution G A synonymous_variant F1127F 3381C>T UCEC-US 2 234394437 234394437 single base substitution G A synonymous_variant F1139F 3417C>T UCEC-US 2 234394437 234394437 single base substitution G A synonymous_variant F94F 282C>T UCEC-US 2 234394437 234394437 single base substitution G A upstream_gene_variant UCEC-US 2 234394540 234394540 single base substitution G A 3_prime_UTR_variant UCEC-US 2 234394540 234394540 single base substitution G A downstream_gene_variant UCEC-US 2 234394540 234394540 single base substitution G A exon_variant UCEC-US 2 234394540 234394540 single base substitution G A missense_variant A1093V 3278C>T UCEC-US 2 234394540 234394540 single base substitution G A missense_variant A1105V 3314C>T UCEC-US 2 234394540 234394540 single base substitution G A missense_variant A60V 179C>T UCEC-US 2 234394540 234394540 single base substitution G A upstream_gene_variant UCEC-US 2 234394542 234394542 single base substitution G A 3_prime_UTR_variant UCEC-US 2 234394542 234394542 single base substitution G A downstream_gene_variant UCEC-US 2 234394542 234394542 single base substitution G A exon_variant UCEC-US 2 234394542 234394542 single base substitution G A synonymous_variant N1092N 3276C>T UCEC-US 2 234394542 234394542 single base substitution G A synonymous_variant N1104N 3312C>T UCEC-US 2 234394542 234394542 single base substitution G A synonymous_variant N59N 177C>T UCEC-US 2 234394542 234394542 single base substitution G A upstream_gene_variant UCEC-US 2 234399842 234399842 single base substitution C A downstream_gene_variant UCEC-US 2 234399842 234399842 single base substitution C A exon_variant UCEC-US 2 234399842 234399842 single base substitution C A missense_variant D1006Y 3016G>T UCEC-US 2 234399842 234399842 single base substitution C A missense_variant D169Y 505G>T UCEC-US 2 234399842 234399842 single base substitution C A missense_variant D994Y 2980G>T UCEC-US 2 234399842 234399842 single base substitution C A upstream_gene_variant UCEC-US 2 234399885 234399885 single base substitution C T downstream_gene_variant UCEC-US 2 234399885 234399885 single base substitution C T exon_variant UCEC-US 2 234399885 234399885 single base substitution C T synonymous_variant A154A 462G>A UCEC-US 2 234399885 234399885 single base substitution C T synonymous_variant A979A 2937G>A UCEC-US 2 234399885 234399885 single base substitution C T synonymous_variant A991A 2973G>A UCEC-US 2 234399885 234399885 single base substitution C T upstream_gene_variant UCEC-US 2 234399886 234399886 single base substitution G A downstream_gene_variant UCEC-US 2 234399886 234399886 single base substitution G A exon_variant UCEC-US 2 234399886 234399886 single base substitution G A missense_variant A154V 461C>T UCEC-US 2 234399886 234399886 single base substitution G A missense_variant A979V 2936C>T UCEC-US 2 234399886 234399886 single base substitution G A missense_variant A991V 2972C>T UCEC-US 2 234399886 234399886 single base substitution G A upstream_gene_variant UCEC-US 2 234421238 234421238 single base substitution C A exon_variant UCEC-US 2 234421238 234421238 single base substitution C A missense_variant R804I 2411G>T UCEC-US 2 234421238 234421238 single base substitution C A missense_variant R816I 2447G>T UCEC-US 2 234421238 234421238 single base substitution C A upstream_gene_variant UCEC-US 2 234421267 234421267 single base substitution A G exon_variant UCEC-US 2 234421267 234421267 single base substitution A G splice_region_variant UCEC-US 2 234421267 234421267 single base substitution A G upstream_gene_variant UCEC-US 2 234428237 234428237 single base substitution G A intron_variant UCEC-US 2 234428237 234428237 single base substitution G A synonymous_variant F96F 288C>T UCEC-US 2 234428301 234428301 single base substitution C T missense_variant R75Q 224G>A UCEC-US 2 234428301 234428301 single base substitution C T missense_variant R780Q 2339G>A UCEC-US 2 234428301 234428301 single base substitution C T missense_variant R792Q 2375G>A UCEC-US 2 234431847 234431847 single base substitution T C downstream_gene_variant UCEC-US 2 234431847 234431847 single base substitution T C missense_variant I18V 52A>G UCEC-US 2 234431847 234431847 single base substitution T C missense_variant I723V 2167A>G UCEC-US 2 234431847 234431847 single base substitution T C missense_variant I735V 2203A>G UCEC-US 2 234432099 234432099 single base substitution C T downstream_gene_variant UCEC-US 2 234432099 234432099 single base substitution C T missense_variant E639K 1915G>A UCEC-US 2 234432099 234432099 single base substitution C T missense_variant E651K 1951G>A UCEC-US 2 234432099 234432099 single base substitution C T upstream_gene_variant UCEC-US 2 234434130 234434130 single base substitution G T downstream_gene_variant UCEC-US 2 234434130 234434130 single base substitution G T missense_variant L601I 1801C>A UCEC-US 2 234434130 234434130 single base substitution G T missense_variant L613I 1837C>A UCEC-US 2 234434130 234434130 single base substitution G T upstream_gene_variant UCEC-US 2 234434150 234434150 single base substitution C T downstream_gene_variant UCEC-US 2 234434150 234434150 single base substitution C T missense_variant G594E 1781G>A UCEC-US 2 234434150 234434150 single base substitution C T missense_variant G606E 1817G>A UCEC-US 2 234434150 234434150 single base substitution C T upstream_gene_variant UCEC-US 2 234436070 234436070 single base substitution G A exon_variant UCEC-US 2 234436070 234436070 single base substitution G A missense_variant R569W 1705C>T UCEC-US 2 234436070 234436070 single base substitution G A missense_variant R581W 1741C>T UCEC-US 2 234436070 234436070 single base substitution G A upstream_gene_variant UCEC-US 2 234436071 234436071 single base substitution G T exon_variant UCEC-US 2 234436071 234436071 single base substitution G T synonymous_variant L568L 1704C>A UCEC-US 2 234436071 234436071 single base substitution G T synonymous_variant L580L 1740C>A UCEC-US 2 234436071 234436071 single base substitution G T upstream_gene_variant UCEC-US 2 234438155 234438155 single base substitution C T exon_variant UCEC-US 2 234438155 234438155 single base substitution C T missense_variant R491Q 1472G>A UCEC-US 2 234438155 234438155 single base substitution C T missense_variant R503Q 1508G>A UCEC-US 2 234442252 234442252 single base substitution G T intron_variant UCEC-US 2 234442252 234442252 single base substitution G T missense_variant H447Q 1341C>A UCEC-US 2 234442252 234442252 single base substitution G T missense_variant H459Q 1377C>A UCEC-US 2 234449396 234449396 single base substitution G T intron_variant UCEC-US 2 234449396 234449396 single base substitution G T missense_variant P360H 1079C>A UCEC-US 2 234449396 234449396 single base substitution G T missense_variant P372H 1115C>A UCEC-US 2 234457783 234457783 single base substitution A G synonymous_variant I310I 930T>C UCEC-US 2 234457783 234457783 single base substitution A G synonymous_variant I322I 966T>C UCEC-US 2 234463057 234463057 single base substitution C T downstream_gene_variant UCEC-US 2 234463057 234463057 single base substitution C T exon_variant UCEC-US 2 234463057 234463057 single base substitution C T missense_variant G221E 662G>A UCEC-US 2 234463057 234463057 single base substitution C T missense_variant G233E 698G>A UCEC-US 2 234463172 234463172 single base substitution C T downstream_gene_variant UCEC-US 2 234463172 234463172 single base substitution C T missense_variant E183K 547G>A UCEC-US 2 234463172 234463172 single base substitution C T missense_variant E195K 583G>A UCEC-US 2 234463172 234463172 single base substitution C T splice_region_variant UCEC-US 2 234465631 234465631 single base substitution C T downstream_gene_variant UCEC-US 2 234465631 234465631 single base substitution C T exon_variant UCEC-US 2 234465631 234465631 single base substitution C T missense_variant R139Q 416G>A UCEC-US 2 234465631 234465631 single base substitution C T missense_variant R151Q 452G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HU-A4H8-01 COSM4092491 c.1260T>A p.R420R Substitution - coding silent 2:233533723-233533723 - TCGA-BP-5185-01 COSM477101 c.2077G>A p.A693T Substitution - Missense 2:233523327-233523327 - SW1463 COSM3050092 c.2419G>A p.D807N Substitution - Missense 2:233512620-233512620 - HCC058T COSM5804241 c.2679A>T p.L893L Substitution - coding silent 2:233499883-233499883 - PD11367a COSM5773043 c.203T>C p.L68P Substitution - Missense 2:233565388-233565388 - 1081T COSM5762998 c.2320G>A p.E774K Substitution - Missense 2:233521029-233521029 - 145T COSM1725712 c.3411A>T p.E1137D Substitution - Missense 2:233485797-233485797 - LS180 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - CSCC-31-T COSM4486525 c.3066C>T p.F1022F Substitution - coding silent 2:233489463-233489463 - TCGA-AA-A010-01 COSM278044 c.2552C>T p.S851L Substitution - Missense 2:233511716-233511716 - HT115 COSM3050158 c.308G>A p.R103Q Substitution - Missense 2:233559920-233559920 - TCGA-EE-A2MC-06 COSM3579277 c.1304G>A p.R435K Substitution - Missense 2:233533679-233533679 - SC_9010 COSM5560084 c.2568G>T p.L856L Substitution - coding silent 2:233510127-233510127 - TCGA-CJ-6033-01 COSM477097 c.2279T>G p.I760S Substitution - Missense 2:233521070-233521070 - Pat_16_B COSM5862064 c.1429G>A p.E477K Substitution - Missense 2:233533554-233533554 - 49M COSM5593900 c.255C>T p.G85G Substitution - coding silent 2:233562784-233562784 - TCGA-G3-A5SJ-01 COSM4914945 c.1559C>A p.A520E Substitution - Missense 2:233529458-233529458 - TCGA-AA-A010-01 COSM286402 c.3416T>C p.F1139S Substitution - Missense 2:233485792-233485792 - TCGA-AM-5821-01 COSM3758042 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - TCGA-HU-A4H8-01 COSM3050057 c.3143G>A p.R1048Q Substitution - Missense 2:233489386-233489386 - TCGA-AP-A059-01 COSM1018042 c.2418T>C p.A806A Substitution - coding silent 2:233512621-233512621 - Gp5D COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-CK-4951-01 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - PTC-7C COSM3758041 c.3285T>C p.Y1095Y Substitution - coding silent 2:233485923-233485923 - REC-1 COSM1741131 c.2250_2251insACA p.E750_E751insT Insertion - In frame 2:233521098-233521099 - RK023_C01 COSM1631901 c.2095A>G p.I699V Substitution - Missense 2:233523309-233523309 - TCGA-EE-A181-06 COSM3579283 c.504C>T p.D168D Substitution - coding silent 2:233556933-233556933 - P03-2345 COSM248252 c.425G>T p.R142M Substitution - Missense 2:233557012-233557012 - LIM2405 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - MO_1012 COSM5550646 c.2576C>T p.A859V Substitution - Missense 2:233510119-233510119 - CHC1534T COSM4787424 c.873G>A p.Q291Q Substitution - coding silent 2:233551376-233551376 - MO_1124 COSM1406371 c.3378G>T p.V1126V Substitution - coding silent 2:233485830-233485830 - Region-11 COSM5749058 c.3462G>T p.R1154S Substitution - Missense 2:233485606-233485606 - TCGA-B0-5096-01 COSM477098 c.2205T>C p.I735I Substitution - coding silent 2:233523199-233523199 - TCGA-BS-A0UF-01 COSM1018034 c.3016G>T p.D1006Y Substitution - Missense 2:233491196-233491196 - TCGA-CA-6718-01 COSM1406381 c.1999G>T p.E667* Substitution - Nonsense 2:233523405-233523405 - 1409_T COSM3962551 c.3009C>G p.I1003M Substitution - Missense 2:233491203-233491203 - ICGC_0062 COSM1159490 c.327_328insA p.Q110fs*22 Insertion - Frameshift 2:233559900-233559901 - HCT8 COSM4634774 c.1816G>A p.G606R Substitution - Missense 2:233525505-233525505 - TCGA-AP-A0LM-01 COSM1018050 c.1951G>A p.E651K Substitution - Missense 2:233523453-233523453 - LIM2551 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - EWS502 COSM4583308 c.2780C>T p.S927F Substitution - Missense 2:233496801-233496801 - 466 COSM4437212 c.2871A>G p.S957S Substitution - coding silent 2:233493504-233493504 - TCGA-HU-A4H8-01 COSM3050056 c.3143G>A p.R1048Q Substitution - Missense 2:233489386-233489386 - TCGA-EE-A29V-06 COSM3579280 c.838C>T p.P280S Substitution - Missense 2:233551411-233551411 - TCGA-29-1691-01 COSM1326334 c.1876G>T p.A626S Substitution - Missense 2:233524530-233524530 - SNU-C4 COSM1018072 c.966T>C p.I322I Substitution - coding silent 2:233549137-233549137 - TCGA-BS-A0UV-01 COSM1018040 c.2447G>T p.R816I Substitution - Missense 2:233512592-233512592 - 2492721 COSM5719931 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - Pat_60_B COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - PT21_2 COSM5901217 c.1199G>A p.R400Q Substitution - Missense 2:233540666-233540666 - SNUH_G45_S1 COSM3758037 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - T15 COSM3758043 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - SJDES007-R1 COSM4583311 c.423G>C p.M141I Substitution - Missense 2:233557014-233557014 - TCGA-CA-6717-01 COSM1406380 c.2302T>G p.L768V Substitution - Missense 2:233521047-233521047 - LUAD-RT-S01487 COSM377914 c.2175G>A p.R725R Substitution - coding silent 2:233523229-233523229 - SNUH_G45_S1 COSM3758042 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - MO_1012 COSM5550647 c.2576C>T p.A859V Substitution - Missense 2:233510119-233510119 - T2269 COSM1018026 c.3468G>T p.K1156N Substitution - Missense 2:233485600-233485600 - TCGA-AM-5821-01 COSM3758037 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-AM-5821-01 COSM5713072 c.2255_2256insGAA p.K752_W753insK Insertion - In frame 2:233521093-233521094 - TCGA-BQ-5885-01 COSM1018070 c.1115C>A p.P372H Substitution - Missense 2:233540750-233540750 - TCGA-AA-3510-01 COSM1406378 c.2764G>T p.E922* Substitution - Nonsense 2:233496817-233496817 - TCGA-F5-6464-01 COSM1565682 c.2984T>G p.L995R Substitution - Missense 2:233491228-233491228 - TCGA-D5-6927-01 COSM1406384 c.422T>C p.M141T Substitution - Missense 2:233557015-233557015 - SNUH_G16_S1 COSM3758038 c.3367C>T p.R1123C Substitution - Missense 2:233485841-233485841 - 53M COSM5595542 c.1282C>T p.Q428* Substitution - Nonsense 2:233533701-233533701 - UM-SCC-11B COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - TCGA-E2-A10E-01 COSM442505 c.2359-2A>G p.? Unknown 2:233519673-233519673 - TCGA-FP-A4BE-01 COSM4092494 c.694T>C p.C232R Substitution - Missense 2:233554415-233554415 - TCGA-D9-A6EC-06 COSM4405095 c.2867C>T p.P956L Substitution - Missense 2:233493508-233493508 - TCGA-C5-A1BQ-01 COSM4842205 c.3070G>C p.E1024Q Substitution - Missense 2:233489459-233489459 - TCGA-AA-A02J-01 COSM300829 c.2123G>A p.G708D Substitution - Missense 2:233523281-233523281 - TCGA-AD-6964-01 COSM5131645 c.1188T>C p.H396H Substitution - coding silent 2:233540677-233540677 - TCGA-EB-A430-01 COSM3579265 c.2829C>T p.F943F Substitution - coding silent 2:233493546-233493546 - TCGA-DU-A5TS-01 COSM3972105 c.2673T>C p.S891S Substitution - coding silent 2:233499889-233499889 - ESCC_BICR_058T COSM5430605 c.798G>A p.V266V Substitution - coding silent 2:233551451-233551451 - LS174T COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - 49M COSM5593901 c.255C>T p.G85G Substitution - coding silent 2:233562784-233562784 - TCGA-BS-A0TJ-01 COSM1018057 c.1741C>T p.R581W Substitution - Missense 2:233527424-233527424 - TCGA-A6-6781-01 COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-F4-6570-01 COSM1406374 c.3241G>A p.V1081M Substitution - Missense 2:233485967-233485967 - TCGA-AP-A0LE-01 COSM1018062 c.1633C>A p.L545M Substitution - Missense 2:233527532-233527532 - SCC-25 COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - TCGA-AA-3977-01 COSM5118981 c.2743G>T p.E915* Substitution - Nonsense 2:233498553-233498553 - 85 COSM5011040 c.1997G>T p.G666V Substitution - Missense 2:233523407-233523407 - 2951_PT COSM5756015 c.1006G>A p.E336K Substitution - Missense 2:233542360-233542360 - TCGA-A2-A25A-01 COSM3838886 c.2292C>A p.H764Q Substitution - Missense 2:233521057-233521057 - Au2 COSM5600834 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - Pat_70_B COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-51-4080-01 COSM720189 c.362A>G p.Q121R Substitution - Missense 2:233559866-233559866 - PD6466b COSM5799220 c.860C>G p.P287R Substitution - Missense 2:233551389-233551389 - TCGA-F5-6464-01 COSM1565683 c.2984T>G p.L995R Substitution - Missense 2:233491228-233491228 - T578 COSM4739835 c.1355A>C p.N452T Substitution - Missense 2:233533628-233533628 - HCT8 COSM4634773 c.3494G>T p.G1165V Substitution - Missense 2:233485574-233485574 - HCC2998 COSM1018043 c.2375G>A p.R792Q Substitution - Missense 2:233519655-233519655 - CHC1534T COSM4787424 c.873G>A p.Q291Q Substitution - coding silent 2:233551376-233551376 - C086 COSM5541493 c.2866C>T p.P956S Substitution - Missense 2:233493509-233493509 - LS174T COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - BD124T COSM5491599 c.567C>T p.N189N Substitution - coding silent 2:233556870-233556870 - TCGA-BR-8487-01 COSM4092485 c.3294C>A p.A1098A Substitution - coding silent 2:233485914-233485914 - NOKSI COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - UPCI:SCC090 COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - ESCC-098T COSM3938989 c.183C>A p.T61T Substitution - coding silent 2:233565408-233565408 - 587328 COSM1232066 c.1525G>T p.G509W Substitution - Missense 2:233529492-233529492 - T2940 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-BS-A0UV-01 COSM1018078 c.452G>A p.R151Q Substitution - Missense 2:233556985-233556985 - TCGA-AA-3510-01 COSM1406377 c.2764G>T p.E922* Substitution - Nonsense 2:233496817-233496817 - TCGA-AA-3492-01 COSM1406372 c.3378G>T p.V1126V Substitution - coding silent 2:233485830-233485830 - HN_62624 COSM127019 c.1921G>T p.G641* Substitution - Nonsense 2:233523483-233523483 - TCGA-66-2782-01 COSM720192 c.1115C>G p.P372R Substitution - Missense 2:233540750-233540750 - TCGA-AA-A00N-01 COSM278045 c.2253G>T p.E751D Substitution - Missense 2:233521096-233521096 - TCGA-DD-A11C-01 COSM4925615 c.3240C>T p.D1080D Substitution - coding silent 2:233485968-233485968 - MO_1124 COSM1406372 c.3378G>T p.V1126V Substitution - coding silent 2:233485830-233485830 - TCGA-66-2782-01 COSM720191 c.1115C>G p.P372R Substitution - Missense 2:233540750-233540750 - TCGA-CZ-5457-01 COSM477103 c.307C>T p.R103* Substitution - Nonsense 2:233559921-233559921 - ESCC_72 COSM5634345 c.2168C>T p.T723M Substitution - Missense 2:233523236-233523236 - Region-11 COSM5749059 c.3462G>T p.R1154S Substitution - Missense 2:233485606-233485606 - 2492702 COSM5600834 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - SC_9010 COSM5560083 c.2568G>T p.L856L Substitution - coding silent 2:233510127-233510127 - TCGA-F4-6703-01 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - T10 COSM5344107 c.598C>G p.L200V Substitution - Missense 2:233554511-233554511 - Pat_16_A COSM5862065 c.1429G>A p.E477K Substitution - Missense 2:233533554-233533554 - GC8_T COSM149101 c.1742G>A p.R581Q Substitution - Missense 2:233527423-233527423 - C84 COSM4620143 c.851A>G p.N284S Substitution - Missense 2:233551398-233551398 - 103940 COSM95479 c.661G>C p.E221Q Substitution - Missense 2:233554448-233554448 - TCGA-BS-A0UF-01 COSM1018026 c.3468G>T p.K1156N Substitution - Missense 2:233485600-233485600 - 2492703 COSM5600834 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - pfg166T COSM4764843 c.1258C>T p.R420C Substitution - Missense 2:233533725-233533725 - SK00072_M COSM1599925 c.3572C>T p.T1191I Substitution - Missense 2:233481263-233481263 - TCGA-18-4083-01 COSM720194 c.2684G>T p.G895V Substitution - Missense 2:233498612-233498612 - BN49T COSM1614530 c.3111G>A p.T1037T Substitution - coding silent 2:233489418-233489418 - CSCC-44-T COSM4547471 c.423G>A p.M141I Substitution - Missense 2:233557014-233557014 - sysucc-311T COSM3050154 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - TCGA-CD-A4MG-01 COSM4092487 c.2759T>C p.L920P Substitution - Missense 2:233496822-233496822 - SNU-C4 COSM1018071 c.966T>C p.I322I Substitution - coding silent 2:233549137-233549137 - Pat_41_A COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - STC291 COSM5058750 c.2589C>T p.D863D Substitution - coding silent 2:233510106-233510106 - TCGA-CA-6718-01 COSM1406382 c.1999G>T p.E667* Substitution - Nonsense 2:233523405-233523405 - BN49 COSM1614530 c.3111G>A p.T1037T Substitution - coding silent 2:233489418-233489418 - NB-1110 COSM1288854 c.1690G>T p.E564* Substitution - Nonsense 2:233527475-233527475 - 2521252 COSM5888733 c.1345C>T p.P449S Substitution - Missense 2:233533638-233533638 - TCGA-CC-5264-01 COSM4915206 c.1058T>C p.I353T Substitution - Missense 2:233542308-233542308 - TCGA-BS-A0UV-01 COSM1018077 c.452G>A p.R151Q Substitution - Missense 2:233556985-233556985 - PD4976a COSM5774582 c.2672C>A p.S891Y Substitution - Missense 2:233499890-233499890 - TCGA-A8-A0A6-01 COSM3838890 c.2015T>G p.V672G Substitution - Missense 2:233523389-233523389 - B14-Tumor COSM3933563 c.691C>T p.H231Y Substitution - Missense 2:233554418-233554418 - SNUH_G16_S1 COSM3758037 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - PDA_050 COSM3758042 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - PD4976a COSM5774583 c.2672C>A p.S891Y Substitution - Missense 2:233499890-233499890 - STC232 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-DU-A5TS-01 COSM3972106 c.2673T>C p.S891S Substitution - coding silent 2:233499889-233499889 - TCGA-A8-A0A6-01 COSM3838888 c.2091T>G p.G697G Substitution - coding silent 2:233523313-233523313 - TCGA-AM-5821-01 COSM3758039 c.3367C>T p.R1123C Substitution - Missense 2:233485841-233485841 - 587328 COSM1232065 c.1525G>T p.G509W Substitution - Missense 2:233529492-233529492 - BN49T COSM1614531 c.3111G>A p.T1037T Substitution - coding silent 2:233489418-233489418 - TCGA-MI-A75C-01 COSM4923128 c.1479A>G p.K493K Substitution - coding silent 2:233533504-233533504 - T10 COSM5344108 c.598C>G p.L200V Substitution - Missense 2:233554511-233554511 - TCGA-BS-A0UF-01 COSM1018064 c.1508G>A p.R503Q Substitution - Missense 2:233529509-233529509 - TCGA-AA-A00N-01 COSM278044 c.2552C>T p.S851L Substitution - Missense 2:233511716-233511716 - TCGA-AP-A0LM-01 COSM1018060 c.1740C>A p.L580L Substitution - coding silent 2:233527425-233527425 - RH18C COSM4985216 c.2150A>G p.K717R Substitution - Missense 2:233523254-233523254 - 1409_T COSM3962550 c.3009C>G p.I1003M Substitution - Missense 2:233491203-233491203 - 23 COSM5748434 c.223C>T p.P75S Substitution - Missense 2:233565368-233565368 - C086 COSM5541494 c.2866C>T p.P956S Substitution - Missense 2:233493509-233493509 - TCGA-FD-A3SO-01 COSM3798771 c.2310G>C p.Q770H Substitution - Missense 2:233521039-233521039 - HCC2998 COSM1018044 c.2375G>A p.R792Q Substitution - Missense 2:233519655-233519655 - TCGA-AM-5821-01 COSM3758038 c.3367C>T p.R1123C Substitution - Missense 2:233485841-233485841 - sysucc-311T COSM3050153 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - TCGA-AN-A046-01 COSM3838895 c.82A>C p.N28H Substitution - Missense 2:233565509-233565509 - PTC-10C COSM3758037 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-AP-A0LM-01 COSM1018069 c.1115C>A p.P372H Substitution - Missense 2:233540750-233540750 - TCGA-BC-A110-01 COSM4936349 c.3408C>T p.P1136P Substitution - coding silent 2:233485800-233485800 - TCGA-D1-A103-01 COSM1018073 c.698G>A p.G233E Substitution - Missense 2:233554411-233554411 - 587342 COSM1232068 c.3692G>T p.R1231L Substitution - Missense 2:233477444-233477444 - Pat_06_B COSM5862063 c.2138C>T p.T713M Substitution - Missense 2:233523266-233523266 - CHC1534T COSM4787423 c.873G>A p.Q291Q Substitution - coding silent 2:233551376-233551376 - PD11367a COSM5773044 c.203T>C p.L68P Substitution - Missense 2:233565388-233565388 - TCGA-AM-5821-01 COSM5713071 c.2255_2256insGAA p.K752_W753insK Insertion - In frame 2:233521093-233521094 - BK0039 COSM4187192 c.3026T>C p.L1009P Substitution - Missense 2:233491186-233491186 - ACINAR01 COSM1733980 c.3423G>A p.W1141* Substitution - Nonsense 2:233485785-233485785 - TCGA-BS-A0UF-01 COSM1018025 c.3468G>T p.K1156N Substitution - Missense 2:233485600-233485600 - TCGA-FR-A3YN-06 COSM3579274 c.1333C>T p.P445S Substitution - Missense 2:233533650-233533650 - RH18C COSM4985218 c.194A>G p.N65S Substitution - Missense 2:233565397-233565397 - Pat_41_B COSM5862066 c.530C>T p.T177I Substitution - Missense 2:233556907-233556907 - 23 COSM5748435 c.223C>T p.P75S Substitution - Missense 2:233565368-233565368 - TCGA-A8-A0A6-01 COSM3838891 c.2015T>G p.V672G Substitution - Missense 2:233523389-233523389 - TCGA-FR-A3YN-06 COSM3579275 c.1333C>T p.P445S Substitution - Missense 2:233533650-233533650 - SNUH_G45_S1 COSM3758043 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - 53M COSM5595543 c.1282C>T p.Q428* Substitution - Nonsense 2:233533701-233533701 - 19685 COSM5346779 c.2245A>G p.K749E Substitution - Missense 2:233521104-233521104 - TCGA-FW-A3R5-06 COSM3909877 c.752C>T p.P251L Substitution - Missense 2:233551497-233551497 - TCGA-P5-A5EV-01 COSM4420356 c.1781A>G p.D594G Substitution - Missense 2:233525540-233525540 - TCGA-BR-8680-01 COSM4092483 c.3454A>G p.T1152A Substitution - Missense 2:233485614-233485614 - ESCC-098T COSM3938990 c.183C>A p.T61T Substitution - coding silent 2:233565408-233565408 - U343 COSM5712147 c.807A>T p.E269D Substitution - Missense 2:233551442-233551442 - Pat_16_B COSM5862065 c.1429G>A p.E477K Substitution - Missense 2:233533554-233533554 - TCGA-AP-A0LM-01 COSM1018059 c.1740C>A p.L580L Substitution - coding silent 2:233527425-233527425 - STC291 COSM5058749 c.2589C>T p.D863D Substitution - coding silent 2:233510106-233510106 - 8031098 COSM218715 c.328_329insA p.R111fs*21 Insertion - Frameshift 2:233559899-233559900 - Gp5D COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-29-1691-01 COSM1326333 c.1876G>T p.A626S Substitution - Missense 2:233524530-233524530 - TCGA-AP-A059-01 COSM1018072 c.966T>C p.I322I Substitution - coding silent 2:233549137-233549137 - TCGA-AA-A00N-01 COSM278046 c.2253G>T p.E751D Substitution - Missense 2:233521096-233521096 - T613 COSM477100 c.2077G>A p.A693T Substitution - Missense 2:233523327-233523327 - TCGA-EB-A431-01 COSM3579272 c.1717A>T p.K573* Substitution - Nonsense 2:233527448-233527448 - TCGA-AP-A059-01 COSM1018071 c.966T>C p.I322I Substitution - coding silent 2:233549137-233549137 - SCC-25 COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - TCGA-D7-6524-01 COSM4092489 c.2144T>A p.I715N Substitution - Missense 2:233523260-233523260 - TCGA-FD-A3SL-01 COSM3798774 c.479C>G p.S160C Substitution - Missense 2:233556958-233556958 - UM-SCC-47 COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - RK135_C01 COSM3743675 c.1657A>G p.N553D Substitution - Missense 2:233527508-233527508 - 2492700 COSM5600834 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - TCGA-EE-A29M-06 COSM3579284 c.315C>T p.I105I Substitution - coding silent 2:233559913-233559913 - TCGA-GV-A3JZ-01 COSM1306557 c.3666C>T p.I1222I Substitution - coding silent 2:233477470-233477470 - 587342 COSM1232070 c.1003-1G>T p.? Unknown 2:233542364-233542364 - TCGA-AA-A02J-01 COSM300830 c.2123G>A p.G708D Substitution - Missense 2:233523281-233523281 - TCGA-A5-A0GW-01 COSM1018032 c.3312C>T p.N1104N Substitution - coding silent 2:233485896-233485896 - 466 COSM4437213 c.2871A>G p.S957S Substitution - coding silent 2:233493504-233493504 - TCGA-AP-A059-01 COSM1018055 c.1817G>A p.G606E Substitution - Missense 2:233525504-233525504 - TCGA-DI-A0WH-01 COSM1018048 c.2193T>G p.N731K Substitution - Missense 2:233523211-233523211 - TCGA-AA-A010-01 COSM286403 c.3416T>C p.F1139S Substitution - Missense 2:233485792-233485792 - C COSM3728508 c.1735G>A p.D579N Substitution - Missense 2:233527430-233527430 - C COSM3728507 c.1735G>A p.D579N Substitution - Missense 2:233527430-233527430 - TCGA-BG-A0MU-01 COSM1018054 c.1833G>A p.Q611Q Substitution - coding silent 2:233525488-233525488 - TCGA-EE-A29V-06 COSM3579279 c.1301A>T p.Q434L Substitution - Missense 2:233533682-233533682 - TCGA-FD-A3N5-01 COSM1306559 c.864T>C p.F288F Substitution - coding silent 2:233551385-233551385 - 19685 COSM4310993 c.2251G>A p.E751K Substitution - Missense 2:233521098-233521098 - GHE0605 COSM5714021 c.3538-2A>T p.? Unknown 2:233481299-233481299 - YUROG COSM5396506 c.2323G>A p.E775K Substitution - Missense 2:233521026-233521026 - 2171671 COSM4423306 c.417+4C>T p.? Unknown 2:233559807-233559807 - TCGA-AP-A0LM-01 COSM1018070 c.1115C>A p.P372H Substitution - Missense 2:233540750-233540750 - SNUH_G16_S1 COSM3758039 c.3367C>T p.R1123C Substitution - Missense 2:233485841-233485841 - 8031098 COSM1168935 c.328_329insA p.R111fs*21 Insertion - Frameshift 2:233559899-233559900 - SNUH_G16_S1 COSM3758036 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-FW-A3R5-06 COSM3909875 c.1405C>T p.Q469* Substitution - Nonsense 2:233533578-233533578 - C086 COSM5541491 c.2969C>T p.P990L Substitution - Missense 2:233491243-233491243 - RKO COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - 2492723 COSM5719932 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - TCGA-FP-A4BE-01 COSM4092493 c.694T>C p.C232R Substitution - Missense 2:233554415-233554415 - SJDES007-R1 COSM4583312 c.423G>C p.M141I Substitution - Missense 2:233557014-233557014 - ESO-717 COSM1242987 c.3554A>G p.D1185G Substitution - Missense 2:233481281-233481281 - TCGA-BC-A110-01 COSM4936350 c.3408C>T p.P1136P Substitution - coding silent 2:233485800-233485800 - TCGA-B5-A11E-01 COSM1018065 c.1377C>A p.H459Q Substitution - Missense 2:233533606-233533606 - CSCC-27-T COSM4464650 c.1344C>T p.S448S Substitution - coding silent 2:233533639-233533639 - 2492722 COSM5719931 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - TCGA-CD-A4MG-01 COSM4092486 c.2759T>C p.L920P Substitution - Missense 2:233496822-233496822 - HCT8 COSM4634775 c.1816G>A p.G606R Substitution - Missense 2:233525505-233525505 - LUAD-RT-S01487 COSM377915 c.2175G>A p.R725R Substitution - coding silent 2:233523229-233523229 - T613 COSM477101 c.2077G>A p.A693T Substitution - Missense 2:233523327-233523327 - SW48 COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-DA-A3F5-06 COSM3579263 c.2942C>T p.S981F Substitution - Missense 2:233493433-233493433 - BD57T COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-C5-A1BQ-01 COSM4842204 c.3070G>C p.E1024Q Substitution - Missense 2:233489459-233489459 - TCGA-A8-A0A6-01 COSM3838889 c.2091T>G p.G697G Substitution - coding silent 2:233523313-233523313 - TCGA-P5-A5EV-01 COSM4420357 c.1781A>G p.D594G Substitution - Missense 2:233525540-233525540 - B14-Tumor COSM3933564 c.691C>T p.H231Y Substitution - Missense 2:233554418-233554418 - TCGA-CJ-6033-01 COSM477096 c.2279T>G p.I760S Substitution - Missense 2:233521070-233521070 - REC-1 COSM1741181 c.2250_2251insTGA p.E750_E751ins* Insertion - In frame 2:233521098-233521099 - HT115 COSM3050154 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - SK00072_M COSM1599926 c.3572C>T p.T1191I Substitution - Missense 2:233481263-233481263 - BD104T COSM5490724 c.2359-1G>T p.? Unknown 2:233519672-233519672 - BCM397T COSM5348114 c.1649delA p.H550fs*10 Deletion - Frameshift 2:233527516-233527516 - ESCC_BICR_058T COSM5430606 c.798G>A p.V266V Substitution - coding silent 2:233551451-233551451 - 19685 COSM5346778 c.2245A>G p.K749E Substitution - Missense 2:233521104-233521104 - 2492720 COSM5719931 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - 86793 COSM95478 c.1034A>T p.K345I Substitution - Missense 2:233542332-233542332 - EWS502 COSM4583309 c.2780C>T p.S927F Substitution - Missense 2:233496801-233496801 - SNUH_G16_S1 COSM4001547 c.2033T>A p.V678D Substitution - Missense 2:233523371-233523371 - ICGC_0062 COSM1159491 c.327_328insA p.Q110fs*22 Insertion - Frameshift 2:233559900-233559901 - STC232 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - RH18C COSM4985219 c.194A>G p.N65S Substitution - Missense 2:233565397-233565397 - TCGA-AM-5821-01 COSM3758041 c.3285T>C p.Y1095Y Substitution - coding silent 2:233485923-233485923 - 587376 COSM1232072 c.1722A>C p.R574S Substitution - Missense 2:233527443-233527443 - CHC1534T COSM4787423 c.873G>A p.Q291Q Substitution - coding silent 2:233551376-233551376 - TCGA-EE-A2MR-06 COSM3579269 c.2082C>T p.I694I Substitution - coding silent 2:233523322-233523322 - TCGA-HU-A4H8-01 COSM4092492 c.1260T>A p.R420R Substitution - coding silent 2:233533723-233533723 - TCGA-HM-A3JK-01 COSM4854905 c.2318C>G p.S773C Substitution - Missense 2:233521031-233521031 - REC-1 COSM1741180 c.2250_2251insTGA p.E750_E751ins* Insertion - In frame 2:233521098-233521099 - TCGA-HM-A3JK-01 COSM4854906 c.2318C>G p.S773C Substitution - Missense 2:233521031-233521031 - TCGA-AA-3492-01 COSM1406371 c.3378G>T p.V1126V Substitution - coding silent 2:233485830-233485830 - TCGA-AP-A056-01 COSM1018037 c.2972C>T p.A991V Substitution - Missense 2:233491240-233491240 - C80 COSM4619791 c.2475G>A p.P825P Substitution - coding silent 2:233511793-233511793 - 2492702 COSM5600835 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - TCGA-CZ-5457-01 COSM477102 c.307C>T p.R103* Substitution - Nonsense 2:233559921-233559921 - 2492721 COSM5719932 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - SW1463 COSM3050091 c.2419G>A p.D807N Substitution - Missense 2:233512620-233512620 - CHC1041T COSM3668574 c.2748+3A>G p.? Unknown 2:233498545-233498545 - TCGA-EE-A29V-06 COSM3579278 c.1301A>T p.Q434L Substitution - Missense 2:233533682-233533682 - TCGA-AM-5821-01 COSM3758040 c.3285T>C p.Y1095Y Substitution - coding silent 2:233485923-233485923 - TCGA-G4-6628-01 COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - SNUH_G45_S1 COSM3758036 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-51-4080-01 COSM720190 c.362A>G p.Q121R Substitution - Missense 2:233559866-233559866 - CHC1041T COSM3668575 c.2748+3A>G p.? Unknown 2:233498545-233498545 - TCGA-D1-A103-01 COSM1018045 c.2203A>G p.I735V Substitution - Missense 2:233523201-233523201 - GHE0605 COSM5714022 c.3538-2A>T p.? Unknown 2:233481299-233481299 - TCGA-BR-8487-01 COSM4092484 c.3294C>A p.A1098A Substitution - coding silent 2:233485914-233485914 - CSCC-31-T COSM4486526 c.3066C>T p.F1022F Substitution - coding silent 2:233489463-233489463 - T2940 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - SM-4B296 COSM4411834 c.2110G>A p.A704T Substitution - Missense 2:233523294-233523294 - TCGA-AP-A059-01 COSM1018056 c.1817G>A p.G606E Substitution - Missense 2:233525504-233525504 - TCGA-BR-8680-01 COSM4092482 c.3454A>G p.T1152A Substitution - Missense 2:233485614-233485614 - TCGA-B5-A0JY-01 COSM1018027 c.3417C>T p.F1139F Substitution - coding silent 2:233485791-233485791 - C84 COSM4620144 c.851A>G p.N284S Substitution - Missense 2:233551398-233551398 - BD104T COSM5490723 c.2359-1G>T p.? Unknown 2:233519672-233519672 - 452 COSM4435862 c.743G>A p.R248H Substitution - Missense 2:233551506-233551506 - AOCS-120-3-6 COSM4128220 c.3040T>G p.S1014A Substitution - Missense 2:233491172-233491172 - SNU-175 COSM3050140 c.1334C>A p.P445H Substitution - Missense 2:233533649-233533649 - PTC-10C COSM3758036 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-BP-5185-01 COSM477100 c.2077G>A p.A693T Substitution - Missense 2:233523327-233523327 - TCGA-D5-6927-01 COSM1406383 c.422T>C p.M141T Substitution - Missense 2:233557015-233557015 - NOKSI COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - LN18 COSM5713071 c.2255_2256insGAA p.K752_W753insK Insertion - In frame 2:233521093-233521094 - TCGA-AM-5821-01 COSM3758043 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - TCGA-DD-A4NR-01 COSM4941169 c.1315C>A p.Q439K Substitution - Missense 2:233533668-233533668 - CHC1041T COSM3668575 c.2748+3A>G p.? Unknown 2:233498545-233498545 - UM-SCC-11B COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - MO_1410 COSM5570058 c.183C>T p.T61T Substitution - coding silent 2:233565408-233565408 - HCC149T COSM5817356 c.1362C>T p.S454S Substitution - coding silent 2:233533621-233533621 - Pat_06_B COSM5862062 c.2138C>T p.T713M Substitution - Missense 2:233523266-233523266 - TCGA-G3-A5SJ-01 COSM4914944 c.1559C>A p.A520E Substitution - Missense 2:233529458-233529458 - TCGA-D1-A103-01 COSM1018046 c.2203A>G p.I735V Substitution - Missense 2:233523201-233523201 - TCGA-B5-A11E-01 COSM1018029 c.3314C>T p.A1105V Substitution - Missense 2:233485894-233485894 - HCC149T COSM5817357 c.1362C>T p.S454S Substitution - coding silent 2:233533621-233533621 - 2492701 COSM5600835 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - TCGA-AC-A23H-01 COSM3838893 c.1846G>A p.D616N Substitution - Missense 2:233524560-233524560 - TCGA-A2-A25A-01 COSM3838887 c.2292C>A p.H764Q Substitution - Missense 2:233521057-233521057 - Pat_16_A COSM5862064 c.1429G>A p.E477K Substitution - Missense 2:233533554-233533554 - HT115 COSM3050157 c.308G>A p.R103Q Substitution - Missense 2:233559920-233559920 - 93VU147T COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - BCM397T COSM5348115 c.1649delA p.H550fs*10 Deletion - Frameshift 2:233527516-233527516 - TCGA-E2-A10E-01 COSM442506 c.2359-2A>G p.? Unknown 2:233519673-233519673 - 587222 COSM477103 c.307C>T p.R103* Substitution - Nonsense 2:233559921-233559921 - SNU-175 COSM3050139 c.1334C>A p.P445H Substitution - Missense 2:233533649-233533649 - SM-4B296 COSM4411835 c.2110G>A p.A704T Substitution - Missense 2:233523294-233523294 - TCGA-FD-A3SL-01 COSM3798773 c.479C>G p.S160C Substitution - Missense 2:233556958-233556958 - TCGA-FW-A3R5-06 COSM3909874 c.1405C>T p.Q469* Substitution - Nonsense 2:233533578-233533578 - TCGA-BJ-A0Z3-01 COSM3372693 c.3611G>A p.R1204Q Substitution - Missense 2:233481224-233481224 - MO_1410 COSM5570059 c.183C>T p.T61T Substitution - coding silent 2:233565408-233565408 - HCC058T COSM5804242 c.2679A>T p.L893L Substitution - coding silent 2:233499883-233499883 - BK0039 COSM4187193 c.3026T>C p.L1009P Substitution - Missense 2:233491186-233491186 - 587342 COSM1232067 c.3692G>T p.R1231L Substitution - Missense 2:233477444-233477444 - TCGA-AC-A23H-01 COSM3838892 c.1846G>A p.D616N Substitution - Missense 2:233524560-233524560 - 3N50-VS-3T50 COSM4983084 c.1481C>A p.S494Y Substitution - Missense 2:233533502-233533502 - TCGA-B0-5096-01 COSM477099 c.2205T>C p.I735I Substitution - coding silent 2:233523199-233523199 - TCGA-DA-A1I2-06 COSM3579271 c.1765G>A p.E589K Substitution - Missense 2:233525556-233525556 - pfg166T COSM4764844 c.1258C>T p.R420C Substitution - Missense 2:233533725-233533725 - TCGA-HU-A4G8-01 COSM1018062 c.1633C>A p.L545M Substitution - Missense 2:233527532-233527532 - 2951_PT COSM5756014 c.1006G>A p.E336K Substitution - Missense 2:233542360-233542360 - TCGA-B5-A0JY-01 COSM1018028 c.3417C>T p.F1139F Substitution - coding silent 2:233485791-233485791 - TCGA-AX-A0J0-01 COSM1018028 c.3417C>T p.F1139F Substitution - coding silent 2:233485791-233485791 - SNU-175 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - 19685 COSM4310995 c.2250A>G p.E750E Substitution - coding silent 2:233521099-233521099 - TCGA-DD-A11C-01 COSM4925616 c.3240C>T p.D1080D Substitution - coding silent 2:233485968-233485968 - TCGA-FD-A3SO-01 COSM3798772 c.2310G>C p.Q770H Substitution - Missense 2:233521039-233521039 - 452 COSM4435863 c.743G>A p.R248H Substitution - Missense 2:233551506-233551506 - T2940 COSM4739833 c.3726C>T p.H1242H Substitution - coding silent 2:233477410-233477410 - SNUH_G16_S1 COSM4001546 c.2033T>A p.V678D Substitution - Missense 2:233523371-233523371 - T578 COSM4739836 c.1355A>C p.N452T Substitution - Missense 2:233533628-233533628 - 2492701 COSM5600834 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - Pat_41_B COSM5862067 c.530C>T p.T177I Substitution - Missense 2:233556907-233556907 - TCGA-AA-A00N-01 COSM278043 c.2552C>T p.S851L Substitution - Missense 2:233511716-233511716 - T3724 COSM4739838 c.314T>C p.I105T Substitution - Missense 2:233559914-233559914 - RK023_C01 COSM1631900 c.2095A>G p.I699V Substitution - Missense 2:233523309-233523309 - 19685 COSM4310998 c.2247G>A p.K749K Substitution - coding silent 2:233521102-233521102 - TCGA-BP-4164-01 COSM1136630 c.3605A>G p.K1202R Substitution - Missense 2:233481230-233481230 - BD57T COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - CHC1041T COSM3668574 c.2748+3A>G p.? Unknown 2:233498545-233498545 - RH18C COSM4985217 c.2150A>G p.K717R Substitution - Missense 2:233523254-233523254 - PT35 COSM3579262 c.2942C>T p.S981F Substitution - Missense 2:233493433-233493433 - 2492700 COSM5600835 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - LN18 COSM5713072 c.2255_2256insGAA p.K752_W753insK Insertion - In frame 2:233521093-233521094 - PTC-7C COSM3758040 c.3285T>C p.Y1095Y Substitution - coding silent 2:233485923-233485923 - TCGA-AA-A010-01 COSM278043 c.2552C>T p.S851L Substitution - Missense 2:233511716-233511716 - TCGA-AP-A056-01 COSM1018038 c.2972C>T p.A991V Substitution - Missense 2:233491240-233491240 - TCGA-D3-A3C3-06 COSM3050154 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - TCGA-EE-A181-06 COSM3579282 c.504C>T p.D168D Substitution - coding silent 2:233556933-233556933 - TCGA-BS-A0UF-01 COSM1018076 c.583G>A p.E195K Substitution - Missense 2:233554526-233554526 - 93VU147T COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - UM-SCC-47 COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - AOCS-120-3-6 COSM4128221 c.3040T>G p.S1014A Substitution - Missense 2:233491172-233491172 - TCGA-F4-6570-01 COSM1406373 c.3241G>A p.V1081M Substitution - Missense 2:233485967-233485967 - 19685 COSM4310994 c.2251G>A p.E751K Substitution - Missense 2:233521098-233521098 - ESO-717 COSM1242988 c.3554A>G p.D1185G Substitution - Missense 2:233481281-233481281 - 587376 COSM1232071 c.1722A>C p.R574S Substitution - Missense 2:233527443-233527443 - TCGA-AX-A0J0-01 COSM1018044 c.2375G>A p.R792Q Substitution - Missense 2:233519655-233519655 - UPCI:SCC090 COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - TCGA-AD-6895-01 COSM5130016 c.2574delT p.F858fs*16 Deletion - Frameshift 2:233510121-233510121 - BD124T COSM5491600 c.567C>T p.N189N Substitution - coding silent 2:233556870-233556870 - TCGA-BS-A0UF-01 COSM1018063 c.1508G>A p.R503Q Substitution - Missense 2:233529509-233529509 - TCGA-EE-A2MR-06 COSM3579268 c.2082C>T p.I694I Substitution - coding silent 2:233523322-233523322 - TCGA-D7-6524-01 COSM4092490 c.2144T>A p.I715N Substitution - Missense 2:233523260-233523260 - TCGA-BS-A0UF-01 COSM1018075 c.583G>A p.E195K Substitution - Missense 2:233554526-233554526 - 3N50-VS-3T50 COSM4983083 c.1481C>A p.S494Y Substitution - Missense 2:233533502-233533502 - 2492720 COSM5719932 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - LIM2551 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - Gp2D COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-A5-A0GW-01 COSM1018031 c.3312C>T p.N1104N Substitution - coding silent 2:233485896-233485896 - TCGA-D9-A6EC-06 COSM4405096 c.2867C>T p.P956L Substitution - Missense 2:233493508-233493508 - TCGA-HU-A4G8-01 COSM1018061 c.1633C>A p.L545M Substitution - Missense 2:233527532-233527532 - 19 COSM5746064 c.3452T>C p.I1151T Substitution - Missense 2:233485616-233485616 - P03-2345 COSM248253 c.425G>T p.R142M Substitution - Missense 2:233557012-233557012 - TCGA-AP-A059-01 COSM1018051 c.1837C>A p.L613I Substitution - Missense 2:233525484-233525484 - 85 COSM5011041 c.1997G>T p.G666V Substitution - Missense 2:233523407-233523407 - Pat_60_B COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - SNU-175 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-BQ-5885-01 COSM1018069 c.1115C>A p.P372H Substitution - Missense 2:233540750-233540750 - 587342 COSM1232069 c.1003-1G>T p.? Unknown 2:233542364-233542364 - SW48 COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - Pat_70_B COSM1406367 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-DA-A1I2-06 COSM3579270 c.1765G>A p.E589K Substitution - Missense 2:233525556-233525556 - Pat_41_A COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-B5-A11E-01 COSM1018035 c.2973G>A p.A991A Substitution - coding silent 2:233491239-233491239 - TCGA-CC-5264-01 COSM4915205 c.1058T>C p.I353T Substitution - Missense 2:233542308-233542308 - 2492722 COSM5719932 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - NB-1110 COSM1288855 c.1690G>T p.E564* Substitution - Nonsense 2:233527475-233527475 - TCGA-AP-A0LM-01 COSM1018049 c.1951G>A p.E651K Substitution - Missense 2:233523453-233523453 - TCGA-18-4083-01 COSM720193 c.2684G>T p.G895V Substitution - Missense 2:233498612-233498612 - 19685 COSM4310996 c.2250A>G p.E750E Substitution - coding silent 2:233521099-233521099 - TCGA-AX-A0J0-01 COSM1018043 c.2375G>A p.R792Q Substitution - Missense 2:233519655-233519655 - U343 COSM5712146 c.807A>T p.E269D Substitution - Missense 2:233551442-233551442 - TCGA-BS-A0TJ-01 COSM1018058 c.1741C>T p.R581W Substitution - Missense 2:233527424-233527424 - PD12797a COSM3769840 c.479C>T p.S160F Substitution - Missense 2:233556958-233556958 - TCGA-13-1488-01 COSM4947515 c.2189G>C p.R730T Substitution - Missense 2:233523215-233523215 - 1081T COSM5762997 c.2320G>A p.E774K Substitution - Missense 2:233521029-233521029 - TCGA-D1-A103-01 COSM1018074 c.698G>A p.G233E Substitution - Missense 2:233554411-233554411 - TCGA-EE-A29M-06 COSM3579285 c.315C>T p.I105I Substitution - coding silent 2:233559913-233559913 - TCGA-D3-A3C3-06 COSM3050153 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - TCGA-EE-A29V-06 COSM3579281 c.838C>T p.P280S Substitution - Missense 2:233551411-233551411 - TCGA-G4-6628-01 COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-13-1488-01 COSM86920 c.2189G>C p.R730T Substitution - Missense 2:233523215-233523215 - LS180 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-BC-A10W-01 COSM4937201 c.2228A>G p.D743G Substitution - Missense 2:233523176-233523176 - 2492723 COSM5719931 c.1975C>T p.H659Y Substitution - Missense 2:233523429-233523429 - TCGA-AN-A046-01 COSM3838894 c.82A>C p.N28H Substitution - Missense 2:233565509-233565509 - CSCC-44-T COSM4547470 c.423G>A p.M141I Substitution - Missense 2:233557014-233557014 - TCGA-BP-4164-01 COSM1136629 c.3605A>G p.K1202R Substitution - Missense 2:233481230-233481230 - T2269 COSM1018025 c.3468G>T p.K1156N Substitution - Missense 2:233485600-233485600 - BN49 COSM1614531 c.3111G>A p.T1037T Substitution - coding silent 2:233489418-233489418 - PT21_2 COSM5901216 c.1199G>A p.R400Q Substitution - Missense 2:233540666-233540666 - 2521252 COSM5888732 c.1345C>T p.P449S Substitution - Missense 2:233533638-233533638 - TCGA-DI-A0WH-01 COSM1018068 c.1252A>G p.T418A Substitution - Missense 2:233533731-233533731 - TCGA-MI-A75C-01 COSM4923127 c.1479A>G p.K493K Substitution - coding silent 2:233533504-233533504 - TCGA-FW-A3R5-06 COSM3909876 c.752C>T p.P251L Substitution - Missense 2:233551497-233551497 - 19 COSM5746063 c.3452T>C p.I1151T Substitution - Missense 2:233485616-233485616 - TCGA-BC-A10W-01 COSM4937200 c.2228A>G p.D743G Substitution - Missense 2:233523176-233523176 - TCGA-EB-A430-01 COSM3579266 c.2829C>T p.F943F Substitution - coding silent 2:233493546-233493546 - ACINAR01 COSM1733981 c.3423G>A p.W1141* Substitution - Nonsense 2:233485785-233485785 - RKO COSM1406368 c.3477_3478insA p.Q1160fs*20 Insertion - Frameshift 2:233485590-233485591 - TCGA-FD-A3N5-01 COSM1306558 c.864T>C p.F288F Substitution - coding silent 2:233551385-233551385 - YUROG COSM5396505 c.2323G>A p.E775K Substitution - Missense 2:233521026-233521026 - Gp2D COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - CSCC-27-T COSM4464651 c.1344C>T p.S448S Substitution - coding silent 2:233533639-233533639 - TCGA-GV-A3JZ-01 COSM1306556 c.3666C>T p.I1222I Substitution - coding silent 2:233477470-233477470 - TCGA-B5-A11E-01 COSM1018066 c.1377C>A p.H459Q Substitution - Missense 2:233533606-233533606 - TCGA-CA-6717-01 COSM1406379 c.2302T>G p.L768V Substitution - Missense 2:233521047-233521047 - UM-SCC-4 COSM4603098 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - HT115 COSM3050153 c.451C>T p.R151* Substitution - Nonsense 2:233556986-233556986 - TCGA-B5-A11E-01 COSM1018036 c.2973G>A p.A991A Substitution - coding silent 2:233491239-233491239 - TCGA-CM-6680-01 COSM1406370 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - TCGA-AP-A059-01 COSM1018052 c.1837C>A p.L613I Substitution - Missense 2:233525484-233525484 - T15 COSM3758042 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - UM-SCC-4 COSM4603097 c.2256_2257insGAA p.K752_W753insE Insertion - In frame 2:233521092-233521093 - TCGA-DA-A3F5-06 COSM3579262 c.2942C>T p.S981F Substitution - Missense 2:233493433-233493433 - TCGA-AD-5900-01 COSM5128204 c.3477_3478insAA p.Q1160fs*12 Insertion - Frameshift 2:233485590-233485591 - TCGA-AP-A059-01 COSM1018041 c.2418T>C p.A806A Substitution - coding silent 2:233512621-233512621 - Au2 COSM5600835 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - 2492703 COSM5600835 c.2519C>T p.S840L Substitution - Missense 2:233511749-233511749 - REC-1 COSM1741132 c.2250_2251insACA p.E750_E751insT Insertion - In frame 2:233521098-233521099 - TCGA-BS-A0UF-01 COSM1018033 c.3016G>T p.D1006Y Substitution - Missense 2:233491196-233491196 - C80 COSM4619792 c.2475G>A p.P825P Substitution - coding silent 2:233511793-233511793 - TCGA-DD-A4NR-01 COSM4941168 c.1315C>A p.Q439K Substitution - Missense 2:233533668-233533668 - 587222 COSM477102 c.307C>T p.R103* Substitution - Nonsense 2:233559921-233559921 - T3724 COSM4739837 c.314T>C p.I105T Substitution - Missense 2:233559914-233559914 - TCGA-B5-A11E-01 COSM1018030 c.3314C>T p.A1105V Substitution - Missense 2:233485894-233485894 - TCGA-AX-A0J0-01 COSM1018027 c.3417C>T p.F1139F Substitution - coding silent 2:233485791-233485791 - 19685 COSM4310997 c.2247G>A p.K749K Substitution - coding silent 2:233521102-233521102 - PT35 COSM3579263 c.2942C>T p.S981F Substitution - Missense 2:233493433-233493433 - TCGA-AM-5821-01 COSM3758036 c.3648T>C p.H1216H Substitution - coding silent 2:233477488-233477488 - TCGA-EB-A431-01 COSM3579273 c.1717A>T p.K573* Substitution - Nonsense 2:233527448-233527448 - RK135_C01 COSM3743674 c.1657A>G p.N553D Substitution - Missense 2:233527508-233527508 - C086 COSM5541492 c.2969C>T p.P990L Substitution - Missense 2:233491243-233491243 - LIM2405 COSM1406369 c.3477delA p.K1159fs*12 Deletion - Frameshift 2:233485591-233485591 - 145T COSM1725713 c.3411A>T p.E1137D Substitution - Missense 2:233485797-233485797 - 2171671 COSM4423307 c.417+4C>T p.? Unknown 2:233559807-233559807 - HCT8 COSM4634772 c.3494G>T p.G1165V Substitution - Missense 2:233485574-233485574 - ESCC_72 COSM5634344 c.2168C>T p.T723M Substitution - Missense 2:233523236-233523236 - PDA_050 COSM3758043 c.2033T>C p.V678A Substitution - Missense 2:233523371-233523371 - TCGA-BS-A0UV-01 COSM1018039 c.2447G>T p.R816I Substitution - Missense 2:233512592-233512592 - TCGA-AA-3977-01 COSM5118983 c.2398A>C p.K800Q Substitution - Missense 2:233519632-233519632 - T2940 COSM4739834 c.3726C>T p.H1242H Substitution - coding silent 2:233477410-233477410 - TCGA-BJ-A0Z3-01 COSM3372692 c.3611G>A p.R1204Q Substitution - Missense 2:233481224-233481224 - TCGA-EE-A2MC-06 COSM3579276 c.1304G>A p.R435K Substitution - Missense 2:233533679-233533679 - PD6466b COSM5799221 c.860C>G p.P287R Substitution - Missense 2:233551389-233551389 - PR-1783 COSM219985 c.2110_2111GC>TT p.A704>? Complex 2:233523293-233523294 - PD12797a COSM3769839 c.479C>T p.S160F Substitution - Missense 2:233556958-233556958 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.96513 2q37.1 610570

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I760S c.2279T>G 2 234429716 RCCC A C Nonsense p.L247* c.740T>G 2 234460155 HNSC A G Synonymous p.F288F c.864T>C 2 234460031 BLCA A G Synonymous p.I735I c.2205T>C 2 234431845 RCCC - A IntronicInsertion . c.3046-67dupT 2 234398196 CM A T Missense p.I715N c.2144T>A 2 234431906 STAD C A Missense p.G895V c.2684G>T 2 234407258 LUSC C A Nonsense p.E564* c.1690G>T 2 234436121 NB C A Nonsense p.G641* c.1921G>T 2 234432129 HNSC C A Synonymous p.L173L c.519G>T 2 234465564 HNSC C G IntronicSNV . c.2950+10G>C 2 234402061 MM C G Missense p.Q181H c.543G>C 2 234465540 HNSC C G Missense p.R730T c.2189G>C 2 234431861 OV C T Missense p.A693T c.2077G>A 2 234431973 RCCC C T Missense p.E589K c.1765G>A 2 234434202 CM C T Missense p.G708D c.2123G>A 2 234431927 COREAD C T Missense p.R1204Q c.3611G>A 2 234389870 THCA C T Missense p.R237K c.710G>A 2 234463045 LUAD C T Missense p.R435K c.1304G>A 2 234442325 CM C T Missense p.V468I c.1402G>A 2 234442227 CM C T Synonymous p.G1109G c.3327G>A 2 234394527 LUAD G A Missense p.L953F c.2857C>T 2 234402164 CM G A Missense p.P280S c.838C>T 2 234460057 CM G A Missense p.R581W c.1741C>T 2 234436070 UCEC G A Missense p.S981F c.2942C>T 2 234402079 CM G A Nonsense p.R103* c.307C>T 2 234468567 RCCC G A Nonsense p.R151* c.451C>T 2 234465632 CM G A Synonymous p.D168D c.504C>T 2 234465579 CM G A Synonymous p.I105I c.315C>T 2 234468559 CM G A Synonymous p.I1222I c.3666C>T 2 234386116 BLCA G A Synonymous p.N1104N c.3312C>T 2 234394542 UCEC G C Missense p.P372R c.1115C>G 2 234449396 LUSC GG AA Missense p.L1215F c.3642_3643delinsTT 2 234386139 CM GG AA Missense p.P956F c.2866_2867delinsTT 2 234402154 CM G T Synonymous p.R282R c.844C>A 2 234460051 LUAD T A Missense p.Q434L c.1301A>T 2 234442328 CM T C Missense p.I409M c.1227A>G 2 234442402 BRCA T C Missense p.I699V c.2095A>G 2 234431955 HC T C Missense p.Q121R c.362A>G 2 234468512 LUSC T C SpliceAcceptorSNV . c.2359-2A>G 2 234428319 BRCA T C Synonymous p.L577L c.1731A>G 2 234436080 LUAD - T Frameshift p.Q110Tfs*22 c.327dupA 2 234468547 PAAD