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 3 176750885 176750885 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr3:176750885G>A c.1290C>T c.(1288-1290)gaC>gaT p.D430D BLCA 3 176752053 176752053 + Missense_Mutation SNP A A C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr3:176752053A>C c.1183T>G c.(1183-1185)Tat>Gat p.Y395D BLCA 3 176752109 176752109 + Missense_Mutation SNP C C A TCGA-BT-A20U-01A-11D-A14W-08 TCGA-BT-A20U-11A-11D-A14W-08 g.chr3:176752109C>A c.1127G>T c.(1126-1128)tGg>tTg p.W376L BLCA 3 176755921 176755921 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr3:176755921G>C c.1087C>G c.(1087-1089)Ctc>Gtc p.L363V BLCA 3 176765187 176765187 + Splice_Site SNP T T C TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr3:176765187T>C c.e9-2 BLCA 3 176768372 176768372 + Missense_Mutation SNP C C G TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr3:176768372C>G c.454G>C c.(454-456)Gat>Cat p.D152H BLCA 3 176769341 176769342 + Frame_Shift_Ins INS - - T TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr3:176769341_176769342insT c.377_378insA c.(376-378)aatfs p.N126fs BLCA 3 176769430 176769430 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr3:176769430G>C c.289C>G c.(289-291)Caa>Gaa p.Q97E BLCA 3 176771707 176771707 + Splice_Site SNP C C T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr3:176771707C>T c.e4-1 BRCA 3 176744190 176744190 + Nonsense_Mutation SNP T T A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr3:176744190T>A c.1489A>T c.(1489-1491)Aaa>Taa p.K497* BRCA 3 176752091 176752091 + Missense_Mutation SNP T T C TCGA-A2-A0CS-01A-11D-A10Y-09 TCGA-A2-A0CS-10A-01D-A110-09 g.chr3:176752091T>C c.1145A>G c.(1144-1146)aAt>aGt p.N382S BRCA 3 176756187 176756189 + In_Frame_Del DEL TGT TGT - TCGA-E2-A15P-01A-11D-A10Y-09 TCGA-E2-A15P-10A-01D-A110-09 g.chr3:176756187_176756189delTGT c.959_961delACA c.(958-963)aacacc>acc p.N320del BRCA 3 176765098 176765098 + Missense_Mutation SNP C C A TCGA-B6-A0RN-01A-12D-A099-09 TCGA-B6-A0RN-10A-01D-A099-09 g.chr3:176765098C>A c.854G>T c.(853-855)gGa>gTa p.G285V BRCA 3 176769295 176769296 + Frame_Shift_Ins INS - - TA TCGA-BH-A18P-01A-11D-A12B-09 TCGA-BH-A18P-11A-43D-A12B-09 g.chr3:176769295_176769296insTA c.423_424insTA c.(421-426)atagcafs p.A142fs BRCA 3 176769295 176769296 + Frame_Shift_Ins INS - - TA TCGA-BH-A18R-01A-11D-A12B-09 TCGA-BH-A18R-11A-42D-A12B-09 g.chr3:176769295_176769296insTA c.423_424insTA c.(421-426)atagcafs p.A142fs BRCA 3 176769296 176769297 + Frame_Shift_Del DEL TA TA - TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 g.chr3:176769296_176769297delTA c.422_423delTA c.(421-423)atafs p.I141fs BRCA 3 176769296 176769297 + Frame_Shift_Del DEL TA TA - TCGA-E2-A3DX-01A-21D-A20S-09 TCGA-E2-A3DX-10A-01D-A20S-09 g.chr3:176769296_176769297delTA c.422_423delTA c.(421-423)atafs p.I141fs BRCA 3 176769299 176769300 + Frame_Shift_Ins INS - - TG TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 g.chr3:176769299_176769300insTG c.419_420insCA c.(418-420)actfs p.T140fs BRCA 3 176771560 176771560 + Splice_Site SNP C C G TCGA-A8-A08Z-01A-21W-A019-09 TCGA-A8-A08Z-10A-01W-A021-09 g.chr3:176771560C>G c.e4+1 BRCA 3 176771659 176771659 + Nonsense_Mutation SNP G G A TCGA-E2-A15G-01A-11D-A12B-09 TCGA-E2-A15G-10A-01D-A12B-09 g.chr3:176771659G>A c.106C>T c.(106-108)Cag>Tag p.Q36* CESC 3 176750766 176750766 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr3:176750766T>G c.1409A>C c.(1408-1410)aAc>aCc p.N470T CESC 3 176755911 176755911 + Missense_Mutation SNP G G A TCGA-DG-A2KK-01A-11D-A17W-09 TCGA-DG-A2KK-10A-01D-A17W-09 g.chr3:176755911G>A c.1097C>T c.(1096-1098)tCc>tTc p.S366F CESC 3 176763937 176763937 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr3:176763937T>G c.905A>C c.(904-906)cAa>cCa p.Q302P CESC 3 176767838 176767838 + Missense_Mutation SNP C C G TCGA-EK-A2RC-01A-11D-A18J-09 TCGA-EK-A2RC-10A-01D-A18J-09 g.chr3:176767838C>G c.649G>C c.(649-651)Gaa>Caa p.E217Q CESC 3 176769478 176769478 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr3:176769478G>C c.241C>G c.(241-243)Ctg>Gtg p.L81V COAD 3 176743292 176743292 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:176743292C>T c.1539G>A c.(1537-1539)cgG>cgA p.R513R COAD 3 176752053 176752053 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr3:176752053A>G c.1183T>C c.(1183-1185)Tat>Cat p.Y395H COAD 3 176752059 176752059 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:176752059C>A c.1177G>T c.(1177-1179)Gaa>Taa p.E393* COAD 3 176755900 176755900 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:176755900C>T c.1108G>A c.(1108-1110)Gac>Aac p.D370N COAD 3 176763959 176763959 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:176763959C>T c.883G>A c.(883-885)Gca>Aca p.A295T COAD 3 176765106 176765106 + Silent SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:176765106T>C c.846A>G c.(844-846)ctA>ctG p.L282L COAD 3 176765312 176765312 + Missense_Mutation SNP C C A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr3:176765312C>A c.728G>T c.(727-729)gGt>gTt p.G243V COAD 3 176767804 176767804 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:176767804A>G c.683T>C c.(682-684)gTc>gCc p.V228A COAD 3 176767912 176767912 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:176767912G>A c.575C>T c.(574-576)aCa>aTa p.T192I COAD 3 176768315 176768315 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:176768315C>T c.511G>A c.(511-513)Gaa>Aaa p.E171K COAD 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:176769342delT c.377delA c.(376-378)aatfs p.N126fs COAD 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:176769342delT c.377delA c.(376-378)aatfs p.N126fs COAD 3 176769382 176769382 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:176769382C>T c.337G>A c.(337-339)Gct>Act p.A113T COAD 3 176769432 176769432 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:176769432T>G c.287A>C c.(286-288)cAa>cCa p.Q96P COAD 3 176769438 176769438 + Missense_Mutation SNP G G A TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr3:176769438G>A c.281C>T c.(280-282)aCa>aTa p.T94I COADREAD 3 176743292 176743292 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:176743292C>T c.1539G>A c.(1537-1539)cgG>cgA p.R513R COADREAD 3 176752053 176752053 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr3:176752053A>G c.1183T>C c.(1183-1185)Tat>Cat p.Y395H COADREAD 3 176752059 176752059 + Nonsense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:176752059C>A c.1177G>T c.(1177-1179)Gaa>Taa p.E393* COADREAD 3 176755900 176755900 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:176755900C>T c.1108G>A c.(1108-1110)Gac>Aac p.D370N COADREAD 3 176763959 176763959 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr3:176763959C>T c.883G>A c.(883-885)Gca>Aca p.A295T COADREAD 3 176765106 176765106 + Silent SNP T T C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:176765106T>C c.846A>G c.(844-846)ctA>ctG p.L282L COADREAD 3 176765312 176765312 + Missense_Mutation SNP C C A TCGA-A6-6654-01A-21D-1835-10 TCGA-A6-6654-10A-01D-1835-10 g.chr3:176765312C>A c.728G>T c.(727-729)gGt>gTt p.G243V COADREAD 3 176767804 176767804 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr3:176767804A>G c.683T>C c.(682-684)gTc>gCc p.V228A COADREAD 3 176767912 176767912 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr3:176767912G>A c.575C>T c.(574-576)aCa>aTa p.T192I COADREAD 3 176768315 176768315 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:176768315C>T c.511G>A c.(511-513)Gaa>Aaa p.E171K COADREAD 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr3:176769342delT c.377delA c.(376-378)aatfs p.N126fs COADREAD 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr3:176769342delT c.377delA c.(376-378)aatfs p.N126fs COADREAD 3 176769382 176769382 + Missense_Mutation SNP C C T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr3:176769382C>T c.337G>A c.(337-339)Gct>Act p.A113T COADREAD 3 176769432 176769432 + Missense_Mutation SNP T T G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:176769432T>G c.287A>C c.(286-288)cAa>cCa p.Q96P COADREAD 3 176769438 176769438 + Missense_Mutation SNP G G A TCGA-CK-6748-01A-11D-1835-10 TCGA-CK-6748-10A-01D-1835-10 g.chr3:176769438G>A c.281C>T c.(280-282)aCa>aTa p.T94I DLBC 3 176750838 176750838 + Missense_Mutation SNP T T C TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr3:176750838T>C c.1337A>G c.(1336-1338)tAc>tGc p.Y446C DLBC 3 176756174 176756174 + Missense_Mutation SNP C C A TCGA-GS-A9TT-01A-11D-A382-10 TCGA-GS-A9TT-10A-01D-A385-10 g.chr3:176756174C>A c.974G>T c.(973-975)tGt>tTt p.C325F ESCA 3 176743311 176743311 + Splice_Site SNP A A C TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr3:176743311A>C c.1520T>G c.(1519-1521)gTt>gGt p.V507G ESCA 3 176755901 176755901 + Missense_Mutation SNP G G T TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr3:176755901G>T c.1107C>A c.(1105-1107)gaC>gaA p.D369E ESCA 3 176771694 176771694 + Missense_Mutation SNP G G A TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr3:176771694G>A c.71C>T c.(70-72)tCa>tTa p.S24L GBMLGG 3 176752004 176752004 + Missense_Mutation SNP G G C TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr3:176752004G>C c.1232C>G c.(1231-1233)gCc>gGc p.A411G GBMLGG 3 176752029 176752029 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:176752029C>A c.1207G>T c.(1207-1209)Gga>Tga p.G403* GBMLGG 3 176782756 176782756 + Frame_Shift_Del DEL T T - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr3:176782756delT c.10delA c.(10-12)agcfs p.S5fs HNSC 3 176752112 176752112 + Splice_Site SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:176752112A>T c.1124T>A c.(1123-1125)aTa>aAa p.I375K HNSC 3 176765338 176765338 + Splice_Site SNP C C G TCGA-CQ-6218-01A-11D-1912-08 TCGA-CQ-6218-10A-01D-1912-08 g.chr3:176765338C>G c.e8-1 HNSC 3 176768329 176768329 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr3:176768329C>A c.497G>T c.(496-498)cGg>cTg p.R166L HNSC 3 176769363 176769363 + Missense_Mutation SNP C C T TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 g.chr3:176769363C>T c.356G>A c.(355-357)aGc>aAc p.S119N KIPAN 3 176767807 176767807 + Missense_Mutation SNP T T C TCGA-AK-3455-01A-01D-0966-08 TCGA-AK-3455-10A-01D-0966-08 g.chr3:176767807T>C c.680A>G c.(679-681)gAt>gGt p.D227G KIPAN 3 176767825 176767825 + Missense_Mutation SNP T T C TCGA-A4-7288-01A-11D-2136-08 TCGA-A4-7288-11A-01D-2136-08 g.chr3:176767825T>C c.662A>G c.(661-663)gAt>gGt p.D221G KIPAN 3 176768295 176768295 + Missense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr3:176768295C>A c.531G>T c.(529-531)tgG>tgT p.W177C KIRC 3 176767807 176767807 + Missense_Mutation SNP T T C TCGA-AK-3455-01A-01D-0966-08 TCGA-AK-3455-10A-01D-0966-08 g.chr3:176767807T>C c.680A>G c.(679-681)gAt>gGt p.D227G KIRC 3 176768295 176768295 + Missense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr3:176768295C>A c.531G>T c.(529-531)tgG>tgT p.W177C KIRP 3 176767825 176767825 + Missense_Mutation SNP T T C TCGA-A4-7288-01A-11D-2136-08 TCGA-A4-7288-11A-01D-2136-08 g.chr3:176767825T>C c.662A>G c.(661-663)gAt>gGt p.D221G LGG 3 176752004 176752004 + Missense_Mutation SNP G G C TCGA-E1-A7YV-01A-11D-A34J-08 TCGA-E1-A7YV-10A-01D-A34M-08 g.chr3:176752004G>C c.1232C>G c.(1231-1233)gCc>gGc p.A411G LGG 3 176752029 176752029 + Nonsense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:176752029C>A c.1207G>T c.(1207-1209)Gga>Tga p.G403* LGG 3 176782756 176782756 + Frame_Shift_Del DEL T T - TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr3:176782756delT c.10delA c.(10-12)agcfs p.S5fs LIHC 3 176744244 176744244 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr3:176744244T>C c.1435A>G c.(1435-1437)Agc>Ggc p.S479G LIHC 3 176750884 176750884 + Nonsense_Mutation SNP G G A TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr3:176750884G>A c.1291C>T c.(1291-1293)Cga>Tga p.R431* LIHC 3 176755936 176755936 + Missense_Mutation SNP C C A TCGA-MI-A75E-01A-11D-A32G-10 TCGA-MI-A75E-10A-01D-A32G-10 g.chr3:176755936C>A c.1072G>T c.(1072-1074)Gac>Tac p.D358Y LIHC 3 176765128 176765128 + Missense_Mutation SNP T T C TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr3:176765128T>C c.824A>G c.(823-825)aAt>aGt p.N275S LUAD 3 176752076 176752076 + Missense_Mutation SNP A A G TCGA-62-8395-01A-11D-2323-08 TCGA-62-8395-10A-01D-2323-08 g.chr3:176752076A>G c.1160T>C c.(1159-1161)tTg>tCg p.L387S LUAD 3 176755885 176755885 + Splice_Site SNP C C A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr3:176755885C>A c.e12+1 LUAD 3 176755886 176755886 + Splice_Site SNP C C A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr3:176755886C>A c.1122G>T c.(1120-1122)aaG>aaT p.K374N LUAD 3 176765161 176765161 + Missense_Mutation SNP T T A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr3:176765161T>A c.791A>T c.(790-792)cAg>cTg p.Q264L LUAD 3 176767882 176767882 + Missense_Mutation SNP C C A TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr3:176767882C>A c.605G>T c.(604-606)aGc>aTc p.S202I LUAD 3 176769466 176769466 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr3:176769466C>G c.253G>C c.(253-255)Gat>Cat p.D85H LUAD 3 176771667 176771667 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr3:176771667T>C c.98A>G c.(97-99)cAt>cGt p.H33R LUSC 3 176743300 176743300 + Missense_Mutation SNP C C G TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr3:176743300C>G c.1531G>C c.(1531-1533)Gac>Cac p.D511H LUSC 3 176756174 176756174 + Missense_Mutation SNP C C G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr3:176756174C>G c.974G>C c.(973-975)tGt>tCt p.C325S LUSC 3 176769461 176769461 + Silent SNP G G A TCGA-22-5477-01A-01D-1632-08 TCGA-22-5477-11A-11D-1632-08 g.chr3:176769461G>A c.258C>T c.(256-258)gcC>gcT p.A86A LUSC 3 176769497 176769497 + Silent SNP A A G TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr3:176769497A>G c.222T>C c.(220-222)gaT>gaC p.D74D OV 3 176767863 176767881 + Frame_Shift_Del DEL CTGTGTAGAGCCACTGGTG CTGTGTAGAGCCACTGGTG - TCGA-29-1783-01A-01W-0633-09 TCGA-29-1783-10A-01W-0634-09 g.chr3:176767863_176767881delCTGTGTAGAGCCACTGGTG c.606_624delCACCAGTGGCTCTACACAG c.(604-624)agcaccagtggctctacacagfs p.STSGSTQ202fs OV 3 176769438 176769438 + Missense_Mutation SNP G G C TCGA-04-1331-01A-01W-0486-08 TCGA-04-1331-10A-01W-0486-08 g.chr3:176769438G>C c.281C>G c.(280-282)aCa>aGa p.T94R PRAD 3 176755961 176755961 + Splice_Site SNP C C G TCGA-CH-5752-01A-11D-1576-08 TCGA-CH-5752-10A-01D-1576-08 g.chr3:176755961C>G c.e12-1 PRAD 3 176768285 176768286 + Frame_Shift_Ins INS - - A TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr3:176768285_176768286insA c.540_541insT c.(538-543)gttagtfs p.S181fs SKCM 3 176755936 176755936 + Missense_Mutation SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr3:176755936C>T c.1072G>A c.(1072-1074)Gac>Aac p.D358N SKCM 3 176755937 176755937 + Nonsense_Mutation SNP C C T TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr3:176755937C>T c.1071G>A c.(1069-1071)tgG>tgA p.W357* SKCM 3 176768298 176768298 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:176768298G>A c.528C>T c.(526-528)gcC>gcT p.A176A SKCM 3 176769418 176769418 + Missense_Mutation SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr3:176769418C>T c.301G>A c.(301-303)Gat>Aat p.D101N

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 3 176771631 176771631 single base substitution G A 5_prime_UTR_variant BLCA-CN 3 176771631 176771631 single base substitution G A downstream_gene_variant BLCA-CN 3 176771631 176771631 single base substitution G A missense_variant P45L 134C>T BLCA-US 3 176752109 176752109 single base substitution C A missense_variant W376L 1127G>T BLCA-US 3 176755921 176755921 single base substitution G C missense_variant L363V 1087C>G BOCA-FR 3 176765867 176765867 single base substitution T G downstream_gene_variant BOCA-FR 3 176765867 176765867 single base substitution T G intron_variant BOCA-FR 3 176888153 176888153 single base substitution T C intron_variant BOCA-FR 3 176917310 176917310 single base substitution C G upstream_gene_variant BRCA-EU 3 176732540 176732540 single base substitution C G downstream_gene_variant BRCA-EU 3 176733126 176733126 single base substitution C T downstream_gene_variant BRCA-EU 3 176733489 176733489 single base substitution G A downstream_gene_variant BRCA-EU 3 176733756 176733756 single base substitution G A downstream_gene_variant BRCA-EU 3 176733766 176733766 single base substitution G T downstream_gene_variant BRCA-EU 3 176734545 176734545 single base substitution C G downstream_gene_variant BRCA-EU 3 176735968 176735968 single base substitution G A downstream_gene_variant BRCA-EU 3 176736251 176736251 single base substitution G A downstream_gene_variant BRCA-EU 3 176736945 176736945 single base substitution A G downstream_gene_variant BRCA-EU 3 176736982 176736982 single base substitution G T downstream_gene_variant BRCA-EU 3 176737477 176737477 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 176737477 176737477 single base substitution T C downstream_gene_variant BRCA-EU 3 176739113 176739113 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 176739113 176739113 single base substitution T C downstream_gene_variant BRCA-EU 3 176739113 176739113 single base substitution T C exon_variant BRCA-EU 3 176739452 176739452 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 3 176739452 176739452 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 176739452 176739452 deletion of <=200bp A - exon_variant BRCA-EU 3 176741127 176741127 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 3 176741127 176741127 deletion of <=200bp T - exon_variant BRCA-EU 3 176741127 176741127 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 3 176741127 176741127 insertion of <=200bp - T exon_variant BRCA-EU 3 176741283 176741283 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 176741283 176741283 single base substitution G A exon_variant BRCA-EU 3 176742006 176742006 single base substitution A T 3_prime_UTR_variant BRCA-EU 3 176742006 176742006 single base substitution A T exon_variant BRCA-EU 3 176744217 176744217 single base substitution C T exon_variant BRCA-EU 3 176744217 176744217 single base substitution C T missense_variant E488K 1462G>A BRCA-EU 3 176744437 176744437 single base substitution G C exon_variant BRCA-EU 3 176744437 176744437 single base substitution G C intron_variant BRCA-EU 3 176744488 176744488 single base substitution C A exon_variant BRCA-EU 3 176744488 176744488 single base substitution C A intron_variant BRCA-EU 3 176744613 176744613 single base substitution C G exon_variant BRCA-EU 3 176744613 176744613 single base substitution C G intron_variant BRCA-EU 3 176744794 176744794 deletion of <=200bp T - exon_variant BRCA-EU 3 176744794 176744794 deletion of <=200bp T - intron_variant BRCA-EU 3 176746638 176746638 single base substitution A T intron_variant BRCA-EU 3 176746638 176746638 single base substitution A T upstream_gene_variant BRCA-EU 3 176746719 176746719 single base substitution C T intron_variant BRCA-EU 3 176746719 176746719 single base substitution C T upstream_gene_variant BRCA-EU 3 176748250 176748250 single base substitution T A intron_variant BRCA-EU 3 176748250 176748250 single base substitution T A upstream_gene_variant BRCA-EU 3 176748271 176748271 single base substitution T C intron_variant BRCA-EU 3 176748271 176748271 single base substitution T C upstream_gene_variant BRCA-EU 3 176748625 176748625 single base substitution C T intron_variant BRCA-EU 3 176748625 176748625 single base substitution C T upstream_gene_variant BRCA-EU 3 176750280 176750280 single base substitution T C intron_variant BRCA-EU 3 176750280 176750280 single base substitution T C upstream_gene_variant BRCA-EU 3 176751054 176751054 single base substitution C T intron_variant BRCA-EU 3 176751095 176751095 single base substitution G T intron_variant BRCA-EU 3 176752096 176752096 single base substitution T C synonymous_variant Q380Q 1140A>G BRCA-EU 3 176753532 176753532 single base substitution C A intron_variant BRCA-EU 3 176753621 176753621 single base substitution C G intron_variant BRCA-EU 3 176754135 176754135 single base substitution C G intron_variant BRCA-EU 3 176754915 176754915 single base substitution C T intron_variant BRCA-EU 3 176755321 176755321 single base substitution T C intron_variant BRCA-EU 3 176757927 176757927 single base substitution G A intron_variant BRCA-EU 3 176758658 176758658 single base substitution G T intron_variant BRCA-EU 3 176760132 176760132 single base substitution A G intron_variant BRCA-EU 3 176760443 176760443 deletion of <=200bp A - intron_variant BRCA-EU 3 176760511 176760511 single base substitution T G intron_variant BRCA-EU 3 176761760 176761760 single base substitution C G intron_variant BRCA-EU 3 176762713 176762713 single base substitution G A intron_variant BRCA-EU 3 176763207 176763207 single base substitution C T intron_variant BRCA-EU 3 176765816 176765816 single base substitution A T downstream_gene_variant BRCA-EU 3 176765816 176765816 single base substitution A T intron_variant BRCA-EU 3 176766115 176766115 single base substitution C T downstream_gene_variant BRCA-EU 3 176766115 176766115 single base substitution C T intron_variant BRCA-EU 3 176766173 176766173 single base substitution A G downstream_gene_variant BRCA-EU 3 176766173 176766173 single base substitution A G intron_variant BRCA-EU 3 176766563 176766563 single base substitution C T downstream_gene_variant BRCA-EU 3 176766563 176766563 single base substitution C T intron_variant BRCA-EU 3 176767743 176767744 deletion of <=200bp TA - downstream_gene_variant BRCA-EU 3 176767743 176767744 deletion of <=200bp TA - intron_variant BRCA-EU 3 176767973 176767973 single base substitution T G downstream_gene_variant BRCA-EU 3 176767973 176767973 single base substitution T G intron_variant BRCA-EU 3 176768269 176768269 single base substitution G A downstream_gene_variant BRCA-EU 3 176768269 176768269 single base substitution G A missense_variant S186L 557C>T BRCA-EU 3 176768399 176768399 single base substitution C G downstream_gene_variant BRCA-EU 3 176768399 176768399 single base substitution C G splice_acceptor_variant BRCA-EU 3 176769461 176769461 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 176769461 176769461 single base substitution G A downstream_gene_variant BRCA-EU 3 176769461 176769461 single base substitution G A synonymous_variant A86A 258C>T BRCA-EU 3 176769586 176769586 single base substitution C G downstream_gene_variant BRCA-EU 3 176769586 176769586 single base substitution C G intron_variant BRCA-EU 3 176770380 176770380 single base substitution C T downstream_gene_variant BRCA-EU 3 176770380 176770380 single base substitution C T intron_variant BRCA-EU 3 176771456 176771456 single base substitution A G downstream_gene_variant BRCA-EU 3 176771456 176771456 single base substitution A G intron_variant BRCA-EU 3 176771665 176771665 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 176771665 176771665 single base substitution T C downstream_gene_variant BRCA-EU 3 176771665 176771665 single base substitution T C missense_variant I34V 100A>G BRCA-EU 3 176774649 176774649 single base substitution G A intron_variant BRCA-EU 3 176774809 176774809 single base substitution C G intron_variant BRCA-EU 3 176774847 176774847 single base substitution G C intron_variant BRCA-EU 3 176775550 176775550 single base substitution G A intron_variant BRCA-EU 3 176775903 176775903 single base substitution G A intron_variant BRCA-EU 3 176776323 176776323 deletion of <=200bp T - intron_variant BRCA-EU 3 176776392 176776392 single base substitution C G intron_variant BRCA-EU 3 176776404 176776404 deletion of <=200bp T - intron_variant BRCA-EU 3 176776714 176776714 deletion of <=200bp A - intron_variant BRCA-EU 3 176778832 176778832 single base substitution G A intron_variant BRCA-EU 3 176779195 176779195 single base substitution G C intron_variant BRCA-EU 3 176779960 176779960 single base substitution T G intron_variant BRCA-EU 3 176780623 176780623 insertion of <=200bp - A intron_variant BRCA-EU 3 176781297 176781297 single base substitution G C intron_variant BRCA-EU 3 176783272 176783272 single base substitution G A intron_variant BRCA-EU 3 176783726 176783726 deletion of <=200bp T - intron_variant BRCA-EU 3 176784431 176784431 single base substitution G A intron_variant BRCA-EU 3 176784492 176784492 single base substitution G A intron_variant BRCA-EU 3 176784979 176784979 single base substitution C A intron_variant BRCA-EU 3 176787682 176787682 single base substitution G C intron_variant BRCA-EU 3 176788421 176788421 single base substitution G A intron_variant BRCA-EU 3 176788527 176788527 single base substitution A G intron_variant BRCA-EU 3 176788641 176788644 deletion of <=200bp AAAT - intron_variant BRCA-EU 3 176788820 176788820 single base substitution T C intron_variant BRCA-EU 3 176788943 176788943 single base substitution C T intron_variant BRCA-EU 3 176789224 176789224 insertion of <=200bp - A intron_variant BRCA-EU 3 176790968 176790968 deletion of <=200bp A - intron_variant BRCA-EU 3 176791895 176791895 single base substitution G A intron_variant BRCA-EU 3 176796033 176796033 single base substitution T C downstream_gene_variant BRCA-EU 3 176796033 176796033 single base substitution T C intron_variant BRCA-EU 3 176796833 176796833 single base substitution C T downstream_gene_variant BRCA-EU 3 176796833 176796833 single base substitution C T intron_variant BRCA-EU 3 176797612 176797612 single base substitution C G exon_variant BRCA-EU 3 176797612 176797612 single base substitution C G intron_variant BRCA-EU 3 176797612 176797612 single base substitution C G splice_region_variant BRCA-EU 3 176799361 176799361 single base substitution G T intron_variant BRCA-EU 3 176799911 176799911 single base substitution T C intron_variant BRCA-EU 3 176800296 176800296 single base substitution C A intron_variant BRCA-EU 3 176800877 176800877 insertion of <=200bp - T intron_variant BRCA-EU 3 176802605 176802605 single base substitution G C intron_variant BRCA-EU 3 176802996 176802996 single base substitution C T intron_variant BRCA-EU 3 176803935 176803935 single base substitution G C intron_variant BRCA-EU 3 176804641 176804641 single base substitution A G intron_variant BRCA-EU 3 176804717 176804717 single base substitution A G intron_variant BRCA-EU 3 176805473 176805473 single base substitution C G intron_variant BRCA-EU 3 176805519 176805519 single base substitution C G intron_variant BRCA-EU 3 176805909 176805909 single base substitution G C intron_variant BRCA-EU 3 176809142 176809142 single base substitution A G intron_variant BRCA-EU 3 176809581 176809581 single base substitution G A intron_variant BRCA-EU 3 176810143 176810143 single base substitution G A intron_variant BRCA-EU 3 176811296 176811296 single base substitution T G intron_variant BRCA-EU 3 176811319 176811319 single base substitution A G intron_variant BRCA-EU 3 176813901 176813901 single base substitution G T intron_variant BRCA-EU 3 176814678 176814678 single base substitution C T intron_variant BRCA-EU 3 176817104 176817104 single base substitution G A intron_variant BRCA-EU 3 176817104 176817104 single base substitution G A upstream_gene_variant BRCA-EU 3 176818218 176818218 single base substitution T C intron_variant BRCA-EU 3 176818218 176818218 single base substitution T C upstream_gene_variant BRCA-EU 3 176819749 176819749 single base substitution T A intron_variant BRCA-EU 3 176819749 176819749 single base substitution T A upstream_gene_variant BRCA-EU 3 176820303 176820303 single base substitution A G intron_variant BRCA-EU 3 176820303 176820303 single base substitution A G upstream_gene_variant BRCA-EU 3 176820578 176820578 single base substitution C T intron_variant BRCA-EU 3 176820578 176820578 single base substitution C T upstream_gene_variant BRCA-EU 3 176821663 176821663 single base substitution G C intron_variant BRCA-EU 3 176827065 176827065 single base substitution G C intron_variant BRCA-EU 3 176827111 176827111 single base substitution A G intron_variant BRCA-EU 3 176827942 176827942 single base substitution G C intron_variant BRCA-EU 3 176828304 176828304 single base substitution T G intron_variant BRCA-EU 3 176828731 176828731 single base substitution C G intron_variant BRCA-EU 3 176828733 176828733 insertion of <=200bp - CGT intron_variant BRCA-EU 3 176828871 176828871 single base substitution A C intron_variant BRCA-EU 3 176828872 176828872 single base substitution T A intron_variant BRCA-EU 3 176829222 176829222 single base substitution G A intron_variant BRCA-EU 3 176829564 176829564 single base substitution C T intron_variant BRCA-EU 3 176830675 176830675 single base substitution C A intron_variant BRCA-EU 3 176831329 176831329 single base substitution G A intron_variant BRCA-EU 3 176831339 176831339 single base substitution C T intron_variant BRCA-EU 3 176831730 176831730 deletion of <=200bp A - intron_variant BRCA-EU 3 176832196 176832196 single base substitution C A intron_variant BRCA-EU 3 176833510 176833510 insertion of <=200bp - T intron_variant BRCA-EU 3 176833948 176833948 deletion of <=200bp T - intron_variant BRCA-EU 3 176834992 176834992 single base substitution C G intron_variant BRCA-EU 3 176835537 176835537 single base substitution G A intron_variant BRCA-EU 3 176837732 176837732 single base substitution A C intron_variant BRCA-EU 3 176838067 176838067 single base substitution C T intron_variant BRCA-EU 3 176838441 176838441 single base substitution C G intron_variant BRCA-EU 3 176841180 176841180 single base substitution G C intron_variant BRCA-EU 3 176841475 176841475 single base substitution C G intron_variant BRCA-EU 3 176842358 176842358 single base substitution T G intron_variant BRCA-EU 3 176843410 176843410 insertion of <=200bp - AT intron_variant BRCA-EU 3 176845225 176845225 single base substitution A C intron_variant BRCA-EU 3 176845645 176845645 single base substitution C T intron_variant BRCA-EU 3 176846603 176846603 single base substitution G A intron_variant BRCA-EU 3 176847489 176847489 deletion of <=200bp A - intron_variant BRCA-EU 3 176847698 176847698 single base substitution C G intron_variant BRCA-EU 3 176847828 176847828 single base substitution G C intron_variant BRCA-EU 3 176847852 176847852 single base substitution G C intron_variant BRCA-EU 3 176847877 176847877 single base substitution G A intron_variant BRCA-EU 3 176847944 176847944 single base substitution A G intron_variant BRCA-EU 3 176848155 176848155 single base substitution C G intron_variant BRCA-EU 3 176848170 176848170 single base substitution C A intron_variant BRCA-EU 3 176848540 176848540 single base substitution G A intron_variant BRCA-EU 3 176849080 176849080 single base substitution C T intron_variant BRCA-EU 3 176850749 176850749 single base substitution G C intron_variant BRCA-EU 3 176850985 176850985 single base substitution G A intron_variant BRCA-EU 3 176854277 176854277 single base substitution A G intron_variant BRCA-EU 3 176854350 176854350 single base substitution G C intron_variant BRCA-EU 3 176854636 176854636 single base substitution C A intron_variant BRCA-EU 3 176854744 176854744 single base substitution G C intron_variant BRCA-EU 3 176854916 176854916 single base substitution A G intron_variant BRCA-EU 3 176855524 176855524 single base substitution G A intron_variant BRCA-EU 3 176855605 176855605 deletion of <=200bp A - intron_variant BRCA-EU 3 176855834 176855834 single base substitution G C intron_variant BRCA-EU 3 176856236 176856236 single base substitution T G intron_variant BRCA-EU 3 176858113 176858113 single base substitution G A intron_variant BRCA-EU 3 176858886 176858886 single base substitution T A intron_variant BRCA-EU 3 176860942 176860942 single base substitution C G intron_variant BRCA-EU 3 176861867 176861867 single base substitution C G intron_variant BRCA-EU 3 176862199 176862199 single base substitution C T intron_variant BRCA-EU 3 176862268 176862268 single base substitution G C intron_variant BRCA-EU 3 176862603 176862603 single base substitution C G intron_variant BRCA-EU 3 176863571 176863571 single base substitution C T intron_variant BRCA-EU 3 176863921 176863921 single base substitution G C intron_variant BRCA-EU 3 176864224 176864224 single base substitution G C intron_variant BRCA-EU 3 176865307 176865307 single base substitution T C intron_variant BRCA-EU 3 176865915 176865915 single base substitution A T intron_variant BRCA-EU 3 176866286 176866286 single base substitution G C intron_variant BRCA-EU 3 176866743 176866743 single base substitution G T intron_variant BRCA-EU 3 176867528 176867528 single base substitution G C intron_variant BRCA-EU 3 176869318 176869318 single base substitution G A intron_variant BRCA-EU 3 176869946 176869946 single base substitution G A intron_variant BRCA-EU 3 176870231 176870231 single base substitution C G intron_variant BRCA-EU 3 176872167 176872167 single base substitution C A intron_variant BRCA-EU 3 176872578 176872578 single base substitution C A intron_variant BRCA-EU 3 176873190 176873190 single base substitution C A intron_variant BRCA-EU 3 176873464 176873464 deletion of <=200bp A - intron_variant BRCA-EU 3 176874617 176874617 single base substitution G A intron_variant BRCA-EU 3 176874997 176874997 insertion of <=200bp - A intron_variant BRCA-EU 3 176875318 176875318 single base substitution A C intron_variant BRCA-EU 3 176875625 176875625 single base substitution G A intron_variant BRCA-EU 3 176876842 176876842 single base substitution C T intron_variant BRCA-EU 3 176876991 176876991 single base substitution G A intron_variant BRCA-EU 3 176877464 176877464 single base substitution A G intron_variant BRCA-EU 3 176879329 176879329 single base substitution G C intron_variant BRCA-EU 3 176880982 176880982 single base substitution T A intron_variant BRCA-EU 3 176881049 176881049 single base substitution C T intron_variant BRCA-EU 3 176881544 176881544 single base substitution G A intron_variant BRCA-EU 3 176882000 176882000 insertion of <=200bp - TTGACATTAAAAACTGTTCATCCCT intron_variant BRCA-EU 3 176882028 176882028 single base substitution A G intron_variant BRCA-EU 3 176885960 176885961 deletion of <=200bp TT - intron_variant BRCA-EU 3 176890330 176890330 single base substitution G A intron_variant BRCA-EU 3 176891819 176891819 single base substitution A G intron_variant BRCA-EU 3 176893049 176893049 single base substitution G A intron_variant BRCA-EU 3 176894205 176894205 single base substitution G A intron_variant BRCA-EU 3 176894669 176894669 single base substitution G A intron_variant BRCA-EU 3 176895523 176895523 single base substitution G T intron_variant BRCA-EU 3 176896234 176896234 deletion of <=200bp A - intron_variant BRCA-EU 3 176896409 176896409 single base substitution C A intron_variant BRCA-EU 3 176897219 176897219 single base substitution G T intron_variant BRCA-EU 3 176897270 176897270 single base substitution A G intron_variant BRCA-EU 3 176898132 176898132 single base substitution A G intron_variant BRCA-EU 3 176899432 176899432 single base substitution T C intron_variant BRCA-EU 3 176899799 176899799 single base substitution C T intron_variant BRCA-EU 3 176900079 176900079 single base substitution A C intron_variant BRCA-EU 3 176903542 176903542 single base substitution A G intron_variant BRCA-EU 3 176903935 176903935 deletion of <=200bp T - intron_variant BRCA-EU 3 176904253 176904253 single base substitution G A intron_variant BRCA-EU 3 176904411 176904411 single base substitution G C intron_variant BRCA-EU 3 176904440 176904440 single base substitution A G intron_variant BRCA-EU 3 176905110 176905110 single base substitution G A intron_variant BRCA-EU 3 176910042 176910042 single base substitution C T intron_variant BRCA-EU 3 176910102 176910102 single base substitution G A intron_variant BRCA-EU 3 176910199 176910199 single base substitution A G intron_variant BRCA-EU 3 176912173 176912173 single base substitution G T intron_variant BRCA-EU 3 176914312 176914312 single base substitution C G intron_variant BRCA-EU 3 176914312 176914312 single base substitution C G upstream_gene_variant BRCA-EU 3 176915352 176915352 insertion of <=200bp - GCGGCGGCGGCG upstream_gene_variant BRCA-EU 3 176915464 176915464 single base substitution G C upstream_gene_variant BRCA-EU 3 176916504 176916504 single base substitution A T upstream_gene_variant BRCA-EU 3 176916751 176916751 single base substitution G C upstream_gene_variant BRCA-EU 3 176917761 176917761 single base substitution A T upstream_gene_variant BRCA-EU 3 176919884 176919884 single base substitution C G upstream_gene_variant BRCA-EU 3 176920218 176920218 single base substitution T C upstream_gene_variant BRCA-FR 3 176733309 176733309 single base substitution T C downstream_gene_variant BRCA-FR 3 176734545 176734545 single base substitution C G downstream_gene_variant BRCA-FR 3 176735127 176735127 single base substitution C G downstream_gene_variant BRCA-FR 3 176757927 176757927 single base substitution G A intron_variant BRCA-FR 3 176763194 176763194 single base substitution G A intron_variant BRCA-FR 3 176774809 176774809 single base substitution C G intron_variant BRCA-FR 3 176785029 176785029 single base substitution G C intron_variant BRCA-FR 3 176787682 176787682 single base substitution G C intron_variant BRCA-FR 3 176788421 176788421 single base substitution G A intron_variant BRCA-FR 3 176797039 176797039 single base substitution G A downstream_gene_variant BRCA-FR 3 176797039 176797039 single base substitution G A intron_variant BRCA-FR 3 176805473 176805473 single base substitution C G intron_variant BRCA-FR 3 176806758 176806758 single base substitution C T intron_variant BRCA-FR 3 176808027 176808027 single base substitution A G intron_variant BRCA-FR 3 176809875 176809875 single base substitution C G intron_variant BRCA-FR 3 176810143 176810143 single base substitution G A intron_variant BRCA-FR 3 176811804 176811804 single base substitution G C intron_variant BRCA-FR 3 176812520 176812520 single base substitution G A intron_variant BRCA-FR 3 176817852 176817852 single base substitution C A intron_variant BRCA-FR 3 176817852 176817852 single base substitution C A upstream_gene_variant BRCA-FR 3 176822284 176822284 single base substitution C T intron_variant BRCA-FR 3 176829222 176829222 single base substitution G A intron_variant BRCA-FR 3 176837466 176837466 single base substitution A C intron_variant BRCA-FR 3 176841180 176841180 single base substitution G C intron_variant BRCA-FR 3 176841475 176841475 single base substitution C G intron_variant BRCA-FR 3 176847828 176847828 single base substitution G C intron_variant BRCA-FR 3 176848155 176848155 single base substitution C G intron_variant BRCA-FR 3 176848540 176848540 single base substitution G A intron_variant BRCA-FR 3 176869946 176869946 single base substitution G A intron_variant BRCA-FR 3 176876991 176876991 single base substitution G A intron_variant BRCA-UK 3 176732280 176732280 single base substitution G C downstream_gene_variant BRCA-UK 3 176736945 176736945 single base substitution A G downstream_gene_variant BRCA-UK 3 176750280 176750280 single base substitution T C intron_variant BRCA-UK 3 176750280 176750280 single base substitution T C upstream_gene_variant BRCA-UK 3 176771665 176771665 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 3 176771665 176771665 single base substitution T C downstream_gene_variant BRCA-UK 3 176771665 176771665 single base substitution T C missense_variant I34V 100A>G BRCA-UK 3 176780622 176780622 single base substitution G A intron_variant BRCA-UK 3 176780637 176780637 single base substitution G A intron_variant BRCA-UK 3 176804641 176804641 single base substitution A G intron_variant BRCA-UK 3 176837732 176837732 single base substitution A C intron_variant BRCA-UK 3 176897219 176897219 single base substitution G T intron_variant BRCA-US 3 176744190 176744190 single base substitution T A exon_variant BRCA-US 3 176744190 176744190 single base substitution T A stop_gained K497* 1489A>T BRCA-US 3 176752091 176752091 single base substitution T C missense_variant N382S 1145A>G BRCA-US 3 176756187 176756189 deletion of <=200bp TGT - disruptive_inframe_deletion NT320T BRCA-US 3 176765098 176765098 single base substitution C A downstream_gene_variant BRCA-US 3 176765098 176765098 single base substitution C A missense_variant G285V 854G>T BRCA-US 3 176769295 176769295 insertion of <=200bp - TA downstream_gene_variant BRCA-US 3 176769295 176769295 insertion of <=200bp - TA frameshift_variant A142V? BRCA-US 3 176769295 176769295 insertion of <=200bp - TA frameshift_variant A55V? BRCA-US 3 176769296 176769297 deletion of <=200bp TA - downstream_gene_variant BRCA-US 3 176769296 176769297 deletion of <=200bp TA - frameshift_variant I141 BRCA-US 3 176769296 176769297 deletion of <=200bp TA - frameshift_variant I54 BRCA-US 3 176769299 176769299 insertion of <=200bp - TG downstream_gene_variant BRCA-US 3 176769299 176769299 insertion of <=200bp - TG frameshift_variant T140T? BRCA-US 3 176769299 176769299 insertion of <=200bp - TG frameshift_variant T53T? BRCA-US 3 176771560 176771560 single base substitution C G downstream_gene_variant BRCA-US 3 176771560 176771560 single base substitution C G splice_donor_variant BRCA-US 3 176771659 176771659 single base substitution G A 5_prime_UTR_variant BRCA-US 3 176771659 176771659 single base substitution G A downstream_gene_variant BRCA-US 3 176771659 176771659 single base substitution G A stop_gained Q36* 106C>T BRCA-US 3 176782763 176782763 single base substitution C G intron_variant BRCA-US 3 176782763 176782763 single base substitution C G start_lost M1I 3G>C BTCA-JP 3 176765145 176765145 single base substitution T C downstream_gene_variant BTCA-JP 3 176765145 176765145 single base substitution T C missense_variant I269M 807A>G BTCA-JP 3 176768349 176768349 single base substitution A G downstream_gene_variant BTCA-JP 3 176768349 176768349 single base substitution A G synonymous_variant P159P 477T>C BTCA-JP 3 176768349 176768349 single base substitution A G synonymous_variant P72P 216T>C BTCA-JP 3 176771871 176771871 single base substitution T C intron_variant BTCA-JP 3 176771873 176771873 single base substitution T C intron_variant CESC-US 3 176750766 176750766 single base substitution T G missense_variant N470T 1409A>C CESC-US 3 176755911 176755911 single base substitution G A missense_variant S366F 1097C>T CESC-US 3 176763937 176763937 single base substitution T G downstream_gene_variant CESC-US 3 176763937 176763937 single base substitution T G missense_variant Q302P 905A>C CESC-US 3 176767838 176767838 single base substitution C G downstream_gene_variant CESC-US 3 176767838 176767838 single base substitution C G missense_variant E217Q 649G>C CESC-US 3 176769478 176769478 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 3 176769478 176769478 single base substitution G C downstream_gene_variant CESC-US 3 176769478 176769478 single base substitution G C missense_variant L81V 241C>G CLLE-ES 3 176743703 176743703 single base substitution G A intron_variant CLLE-ES 3 176747331 176747331 single base substitution C T intron_variant CLLE-ES 3 176747331 176747331 single base substitution C T upstream_gene_variant CLLE-ES 3 176747422 176747422 single base substitution A C intron_variant CLLE-ES 3 176747422 176747422 single base substitution A C upstream_gene_variant CLLE-ES 3 176755911 176755911 single base substitution G A missense_variant S366F 1097C>T CLLE-ES 3 176758768 176758768 single base substitution G A intron_variant CLLE-ES 3 176764443 176764443 single base substitution T G downstream_gene_variant CLLE-ES 3 176764443 176764443 single base substitution T G intron_variant CLLE-ES 3 176767777 176767777 single base substitution A G downstream_gene_variant CLLE-ES 3 176767777 176767777 single base substitution A G splice_region_variant CLLE-ES 3 176774518 176774518 single base substitution G A intron_variant CLLE-ES 3 176790812 176790812 single base substitution A C intron_variant CLLE-ES 3 176793227 176793227 single base substitution A G downstream_gene_variant CLLE-ES 3 176793227 176793227 single base substitution A G intron_variant CLLE-ES 3 176795847 176795847 single base substitution A T downstream_gene_variant CLLE-ES 3 176795847 176795847 single base substitution A T intron_variant CLLE-ES 3 176813501 176813502 deletion of <=200bp CA - intron_variant CLLE-ES 3 176842554 176842554 single base substitution C T intron_variant CLLE-ES 3 176891126 176891126 single base substitution T C intron_variant CLLE-ES 3 176900465 176900466 deletion of <=200bp CT - intron_variant CLLE-ES 3 176905580 176905580 single base substitution T C intron_variant COAD-US 3 176743292 176743292 single base substitution C T exon_variant COAD-US 3 176743292 176743292 single base substitution C T synonymous_variant R513R 1539G>A COAD-US 3 176752053 176752053 single base substitution A G missense_variant Y395H 1183T>C COAD-US 3 176755900 176755900 single base substitution C T missense_variant D370N 1108G>A COAD-US 3 176765312 176765312 single base substitution C A downstream_gene_variant COAD-US 3 176765312 176765312 single base substitution C A missense_variant G243V 728G>T COAD-US 3 176769382 176769382 single base substitution C T downstream_gene_variant COAD-US 3 176769382 176769382 single base substitution C T missense_variant A113T 337G>A COAD-US 3 176769382 176769382 single base substitution C T missense_variant A26T 76G>A COCA-CN 3 176750721 176750721 single base substitution T G intron_variant COCA-CN 3 176750755 176750755 single base substitution A G splice_region_variant COCA-CN 3 176750849 176750849 single base substitution T G missense_variant Q442H 1326A>C COCA-CN 3 176756163 176756163 single base substitution T C missense_variant M329V 985A>G COCA-CN 3 176756175 176756175 single base substitution A C missense_variant C325G 973T>G COCA-CN 3 176767672 176767672 single base substitution T G downstream_gene_variant COCA-CN 3 176767672 176767672 single base substitution T G intron_variant COCA-CN 3 176767673 176767673 single base substitution A G downstream_gene_variant COCA-CN 3 176767673 176767673 single base substitution A G intron_variant COCA-CN 3 176771621 176771621 single base substitution T A 5_prime_UTR_variant COCA-CN 3 176771621 176771621 single base substitution T A downstream_gene_variant COCA-CN 3 176771621 176771621 single base substitution T A synonymous_variant A48A 144A>T COCA-CN 3 176771861 176771861 single base substitution T C intron_variant COCA-CN 3 176818099 176818099 single base substitution G T intron_variant COCA-CN 3 176818099 176818099 single base substitution G T upstream_gene_variant EOPC-DE 3 176761968 176761968 single base substitution T C intron_variant EOPC-DE 3 176783533 176783533 single base substitution C A intron_variant EOPC-DE 3 176791450 176791450 single base substitution C T intron_variant EOPC-DE 3 176857516 176857516 single base substitution G A intron_variant EOPC-DE 3 176865325 176865325 single base substitution G A intron_variant ESAD-UK 3 176733816 176733816 single base substitution T A downstream_gene_variant ESAD-UK 3 176733935 176733935 single base substitution A G downstream_gene_variant ESAD-UK 3 176734016 176734016 single base substitution C G downstream_gene_variant ESAD-UK 3 176738146 176738146 single base substitution C A 3_prime_UTR_variant ESAD-UK 3 176738146 176738146 single base substitution C A downstream_gene_variant ESAD-UK 3 176740769 176740769 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 176740769 176740769 single base substitution T C downstream_gene_variant ESAD-UK 3 176740769 176740769 single base substitution T C exon_variant ESAD-UK 3 176742374 176742374 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 3 176742374 176742374 insertion of <=200bp - T exon_variant ESAD-UK 3 176743946 176743946 single base substitution T G intron_variant ESAD-UK 3 176744038 176744038 single base substitution A G intron_variant ESAD-UK 3 176744465 176744465 single base substitution A G exon_variant ESAD-UK 3 176744465 176744465 single base substitution A G intron_variant ESAD-UK 3 176747481 176747481 deletion of <=200bp A - intron_variant ESAD-UK 3 176747481 176747481 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 176748053 176748053 single base substitution G C intron_variant ESAD-UK 3 176748053 176748053 single base substitution G C upstream_gene_variant ESAD-UK 3 176748930 176748930 single base substitution G A intron_variant ESAD-UK 3 176748930 176748930 single base substitution G A upstream_gene_variant ESAD-UK 3 176750552 176750552 single base substitution T A intron_variant ESAD-UK 3 176750552 176750552 single base substitution T A upstream_gene_variant ESAD-UK 3 176755298 176755298 insertion of <=200bp - G intron_variant ESAD-UK 3 176755876 176755876 single base substitution A T intron_variant ESAD-UK 3 176756024 176756024 single base substitution A G intron_variant ESAD-UK 3 176756524 176756524 single base substitution A G intron_variant ESAD-UK 3 176756935 176756935 single base substitution G A intron_variant ESAD-UK 3 176756993 176756993 insertion of <=200bp - A intron_variant ESAD-UK 3 176757283 176757283 single base substitution C T intron_variant ESAD-UK 3 176759212 176759212 single base substitution C A intron_variant ESAD-UK 3 176759318 176759318 single base substitution C T intron_variant ESAD-UK 3 176759527 176759527 single base substitution T C intron_variant ESAD-UK 3 176759981 176759981 single base substitution T G intron_variant ESAD-UK 3 176762691 176762691 single base substitution C T intron_variant ESAD-UK 3 176762883 176762883 single base substitution A G intron_variant ESAD-UK 3 176764246 176764246 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 176764246 176764246 deletion of <=200bp T - intron_variant ESAD-UK 3 176764333 176764333 single base substitution G A downstream_gene_variant ESAD-UK 3 176764333 176764333 single base substitution G A intron_variant ESAD-UK 3 176765796 176765796 single base substitution G T downstream_gene_variant ESAD-UK 3 176765796 176765796 single base substitution G T intron_variant ESAD-UK 3 176768451 176768451 single base substitution G A downstream_gene_variant ESAD-UK 3 176768451 176768451 single base substitution G A intron_variant ESAD-UK 3 176768722 176768722 single base substitution A C downstream_gene_variant ESAD-UK 3 176768722 176768722 single base substitution A C intron_variant ESAD-UK 3 176769342 176769342 single base substitution T C downstream_gene_variant ESAD-UK 3 176769342 176769342 single base substitution T C missense_variant N126S 377A>G ESAD-UK 3 176769342 176769342 single base substitution T C missense_variant N39S 116A>G ESAD-UK 3 176770344 176770344 single base substitution G A downstream_gene_variant ESAD-UK 3 176770344 176770344 single base substitution G A intron_variant ESAD-UK 3 176774063 176774063 single base substitution G T intron_variant ESAD-UK 3 176777948 176777948 single base substitution G C intron_variant ESAD-UK 3 176781322 176781322 deletion of <=200bp T - intron_variant ESAD-UK 3 176781534 176781534 single base substitution C G intron_variant ESAD-UK 3 176782254 176782254 single base substitution A G intron_variant ESAD-UK 3 176782653 176782653 single base substitution T C intron_variant ESAD-UK 3 176783158 176783158 single base substitution A C intron_variant ESAD-UK 3 176786014 176786014 single base substitution T G intron_variant ESAD-UK 3 176790687 176790687 single base substitution A G intron_variant ESAD-UK 3 176790844 176790844 single base substitution T C intron_variant ESAD-UK 3 176790847 176790847 single base substitution G C intron_variant ESAD-UK 3 176791518 176791518 single base substitution T G intron_variant ESAD-UK 3 176791858 176791858 single base substitution C T intron_variant ESAD-UK 3 176793519 176793519 single base substitution G C downstream_gene_variant ESAD-UK 3 176793519 176793519 single base substitution G C intron_variant ESAD-UK 3 176793587 176793587 single base substitution T C downstream_gene_variant ESAD-UK 3 176793587 176793587 single base substitution T C intron_variant ESAD-UK 3 176796210 176796210 single base substitution A C downstream_gene_variant ESAD-UK 3 176796210 176796210 single base substitution A C intron_variant ESAD-UK 3 176796706 176796706 single base substitution C T downstream_gene_variant ESAD-UK 3 176796706 176796706 single base substitution C T intron_variant ESAD-UK 3 176796847 176796847 single base substitution G A downstream_gene_variant ESAD-UK 3 176796847 176796847 single base substitution G A intron_variant ESAD-UK 3 176798919 176798919 single base substitution T A intron_variant ESAD-UK 3 176799445 176799445 single base substitution G A intron_variant ESAD-UK 3 176802163 176802163 single base substitution C T intron_variant ESAD-UK 3 176802346 176802346 single base substitution G C intron_variant ESAD-UK 3 176803715 176803715 deletion of <=200bp G - intron_variant ESAD-UK 3 176804432 176804432 single base substitution C A intron_variant ESAD-UK 3 176805493 176805493 single base substitution T A intron_variant ESAD-UK 3 176805548 176805548 insertion of <=200bp - G intron_variant ESAD-UK 3 176805778 176805778 single base substitution T A intron_variant ESAD-UK 3 176808191 176808191 single base substitution G T intron_variant ESAD-UK 3 176808947 176808947 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 3 176808947 176808947 single base substitution G A intron_variant ESAD-UK 3 176810377 176810377 single base substitution C T intron_variant ESAD-UK 3 176811134 176811134 single base substitution C T intron_variant ESAD-UK 3 176811599 176811599 single base substitution C A intron_variant ESAD-UK 3 176813004 176813004 single base substitution G T intron_variant ESAD-UK 3 176814711 176814711 single base substitution G A intron_variant ESAD-UK 3 176814793 176814793 deletion of <=200bp T - intron_variant ESAD-UK 3 176817004 176817004 single base substitution A C intron_variant ESAD-UK 3 176817004 176817004 single base substitution A C upstream_gene_variant ESAD-UK 3 176817016 176817016 single base substitution G A intron_variant ESAD-UK 3 176817016 176817016 single base substitution G A upstream_gene_variant ESAD-UK 3 176822243 176822243 single base substitution C T intron_variant ESAD-UK 3 176823147 176823147 single base substitution A G intron_variant ESAD-UK 3 176826656 176826656 single base substitution C G intron_variant ESAD-UK 3 176828289 176828289 single base substitution T G intron_variant ESAD-UK 3 176828800 176828800 single base substitution A T intron_variant ESAD-UK 3 176829211 176829211 single base substitution C A intron_variant ESAD-UK 3 176830360 176830360 single base substitution G A intron_variant ESAD-UK 3 176831497 176831497 single base substitution G C intron_variant ESAD-UK 3 176832024 176832025 deletion of <=200bp AT - intron_variant ESAD-UK 3 176832372 176832372 single base substitution G A intron_variant ESAD-UK 3 176832563 176832563 single base substitution A T intron_variant ESAD-UK 3 176832601 176832601 insertion of <=200bp - A intron_variant ESAD-UK 3 176832686 176832686 single base substitution G C intron_variant ESAD-UK 3 176833622 176833622 single base substitution T C intron_variant ESAD-UK 3 176833840 176833840 single base substitution T A intron_variant ESAD-UK 3 176838426 176838426 single base substitution T A intron_variant ESAD-UK 3 176839401 176839401 single base substitution G T intron_variant ESAD-UK 3 176843550 176843550 deletion of <=200bp T - intron_variant ESAD-UK 3 176845710 176845710 single base substitution A G intron_variant ESAD-UK 3 176846401 176846401 single base substitution A T intron_variant ESAD-UK 3 176848802 176848802 single base substitution A G intron_variant ESAD-UK 3 176852003 176852003 single base substitution A G intron_variant ESAD-UK 3 176854606 176854606 single base substitution C G intron_variant ESAD-UK 3 176856281 176856281 single base substitution G A intron_variant ESAD-UK 3 176858046 176858046 single base substitution C A intron_variant ESAD-UK 3 176858640 176858640 single base substitution G A intron_variant ESAD-UK 3 176859285 176859285 single base substitution T A intron_variant ESAD-UK 3 176860703 176860703 deletion of <=200bp A - intron_variant ESAD-UK 3 176861282 176861282 single base substitution T C intron_variant ESAD-UK 3 176865126 176865126 single base substitution G A intron_variant ESAD-UK 3 176869390 176869390 single base substitution G T intron_variant ESAD-UK 3 176870225 176870225 deletion of <=200bp C - intron_variant ESAD-UK 3 176870789 176870789 single base substitution C T intron_variant ESAD-UK 3 176872358 176872358 deletion of <=200bp T - intron_variant ESAD-UK 3 176874364 176874364 insertion of <=200bp - TA intron_variant ESAD-UK 3 176876629 176876629 single base substitution A T intron_variant ESAD-UK 3 176878431 176878431 single base substitution C T intron_variant ESAD-UK 3 176879175 176879175 single base substitution T G intron_variant ESAD-UK 3 176882069 176882069 single base substitution G A intron_variant ESAD-UK 3 176883893 176883893 single base substitution G T intron_variant ESAD-UK 3 176885321 176885321 single base substitution T G intron_variant ESAD-UK 3 176885781 176885781 single base substitution A C intron_variant ESAD-UK 3 176886362 176886362 single base substitution G A intron_variant ESAD-UK 3 176887770 176887770 deletion of <=200bp G - intron_variant ESAD-UK 3 176889344 176889344 single base substitution G A intron_variant ESAD-UK 3 176891522 176891522 single base substitution C G intron_variant ESAD-UK 3 176893060 176893060 single base substitution G C intron_variant ESAD-UK 3 176893628 176893628 single base substitution C T intron_variant ESAD-UK 3 176894496 176894496 single base substitution A T intron_variant ESAD-UK 3 176896361 176896361 single base substitution G A intron_variant ESAD-UK 3 176898129 176898129 insertion of <=200bp - A intron_variant ESAD-UK 3 176899385 176899385 single base substitution G C intron_variant ESAD-UK 3 176905651 176905651 single base substitution T A intron_variant ESAD-UK 3 176908191 176908191 single base substitution C T intron_variant ESAD-UK 3 176910726 176910726 single base substitution A G intron_variant ESAD-UK 3 176910941 176910941 deletion of <=200bp A - intron_variant ESAD-UK 3 176911625 176911625 single base substitution G C intron_variant ESAD-UK 3 176915294 176915294 single base substitution T C upstream_gene_variant ESAD-UK 3 176916896 176916896 single base substitution C A upstream_gene_variant ESAD-UK 3 176919538 176919538 single base substitution G A upstream_gene_variant ESCA-CN 3 176742501 176742501 single base substitution G A 3_prime_UTR_variant ESCA-CN 3 176742501 176742501 single base substitution G A exon_variant ESCA-CN 3 176755936 176755936 single base substitution C A missense_variant D358Y 1072G>T ESCA-CN 3 176771861 176771861 single base substitution T C intron_variant KIRC-US 3 176767807 176767807 single base substitution T C downstream_gene_variant KIRC-US 3 176767807 176767807 single base substitution T C missense_variant D227G 680A>G KIRC-US 3 176768295 176768295 single base substitution C A downstream_gene_variant KIRC-US 3 176768295 176768295 single base substitution C A missense_variant W177C 531G>T KIRP-US 3 176767825 176767825 single base substitution T C downstream_gene_variant KIRP-US 3 176767825 176767825 single base substitution T C missense_variant D221G 662A>G KIRP-US 3 176771657 176771657 single base substitution C G 5_prime_UTR_variant KIRP-US 3 176771657 176771657 single base substitution C G downstream_gene_variant KIRP-US 3 176771657 176771657 single base substitution C G missense_variant Q36H 108G>C LAML-KR 3 176852767 176852767 single base substitution C G intron_variant LAML-KR 3 176871665 176871665 single base substitution C A intron_variant LGG-US 3 176782756 176782756 deletion of <=200bp T - frameshift_variant S4 LGG-US 3 176782756 176782756 deletion of <=200bp T - intron_variant LICA-CN 3 176756157 176756157 single base substitution T A missense_variant I331F 991A>T LICA-FR 3 176750900 176750900 deletion of <=200bp C - frameshift_variant R425 LICA-FR 3 176755887 176755899 deletion of <=200bp TTTAAAGTCATGT - frameshift_variant DMTLK370 LICA-FR 3 176755903 176755903 single base substitution C A missense_variant D369Y 1105G>T LICA-FR 3 176758275 176758275 single base substitution C T intron_variant LICA-FR 3 176765120 176765120 single base substitution C T downstream_gene_variant LICA-FR 3 176765120 176765120 single base substitution C T missense_variant G278R 832G>A LICA-FR 3 176767892 176767892 single base substitution T C downstream_gene_variant LICA-FR 3 176767892 176767892 single base substitution T C missense_variant S199G 595A>G LICA-FR 3 176771623 176771623 single base substitution C A 5_prime_UTR_variant LICA-FR 3 176771623 176771623 single base substitution C A downstream_gene_variant LICA-FR 3 176771623 176771623 single base substitution C A missense_variant A48S 142G>T LICA-FR 3 176773728 176773728 single base substitution A G intron_variant LICA-FR 3 176773731 176773731 single base substitution A C intron_variant LICA-FR 3 176776915 176776915 single base substitution C T intron_variant LICA-FR 3 176780960 176780960 single base substitution T A intron_variant LICA-FR 3 176794828 176794828 single base substitution T A downstream_gene_variant LICA-FR 3 176794828 176794828 single base substitution T A intron_variant LICA-FR 3 176796742 176796742 insertion of <=200bp - A downstream_gene_variant LICA-FR 3 176796742 176796742 insertion of <=200bp - A intron_variant LICA-FR 3 176810780 176810780 deletion of <=200bp G - intron_variant LICA-FR 3 176833916 176833916 single base substitution C T intron_variant LICA-FR 3 176835359 176835359 single base substitution G C intron_variant LICA-FR 3 176849299 176849301 deletion of <=200bp TTT - intron_variant LICA-FR 3 176851694 176851694 single base substitution A C intron_variant LICA-FR 3 176861808 176861808 single base substitution C T intron_variant LICA-FR 3 176863592 176863592 single base substitution T G intron_variant LICA-FR 3 176871073 176871073 single base substitution A G intron_variant LICA-FR 3 176889684 176889684 single base substitution C T intron_variant LICA-FR 3 176890423 176890423 single base substitution G A intron_variant LICA-FR 3 176905179 176905179 deletion of <=200bp A - intron_variant LICA-FR 3 176916654 176916667 deletion of <=200bp ACACACACACACAC - upstream_gene_variant LICA-FR 3 176918584 176918584 single base substitution G A upstream_gene_variant LIHC-US 3 176755936 176755936 single base substitution C A missense_variant D358Y 1072G>T LINC-JP 3 176743398 176743398 single base substitution T C intron_variant LINC-JP 3 176746908 176746908 deletion of <=200bp A - intron_variant LINC-JP 3 176746908 176746908 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 176749574 176749574 single base substitution T C intron_variant LINC-JP 3 176749574 176749574 single base substitution T C upstream_gene_variant LINC-JP 3 176749622 176749622 single base substitution T G intron_variant LINC-JP 3 176749622 176749622 single base substitution T G upstream_gene_variant LINC-JP 3 176752703 176752703 single base substitution T C intron_variant LINC-JP 3 176758716 176758716 single base substitution A G intron_variant LINC-JP 3 176767902 176767902 single base substitution T C downstream_gene_variant LINC-JP 3 176767902 176767902 single base substitution T C missense_variant I195M 585A>G LINC-JP 3 176771869 176771869 single base substitution C T intron_variant LINC-JP 3 176771905 176771908 deletion of <=200bp CTTT - intron_variant LINC-JP 3 176781474 176781474 single base substitution C A intron_variant LINC-JP 3 176781687 176781687 single base substitution C A intron_variant LINC-JP 3 176790906 176790906 single base substitution C A intron_variant LINC-JP 3 176797388 176797388 single base substitution T C exon_variant LINC-JP 3 176797388 176797388 single base substitution T C intron_variant LINC-JP 3 176829578 176829578 single base substitution C T intron_variant LINC-JP 3 176843705 176843705 single base substitution T A intron_variant LINC-JP 3 176854064 176854064 single base substitution A C intron_variant LINC-JP 3 176876849 176876849 single base substitution G C intron_variant LINC-JP 3 176893547 176893547 insertion of <=200bp - A intron_variant LINC-JP 3 176897632 176897632 single base substitution G T intron_variant LINC-JP 3 176897633 176897633 single base substitution A T intron_variant LINC-JP 3 176898007 176898007 single base substitution G A intron_variant LINC-JP 3 176906105 176906105 single base substitution G A intron_variant LINC-JP 3 176907160 176907160 single base substitution C T intron_variant LINC-JP 3 176908556 176908556 single base substitution T A intron_variant LINC-JP 3 176919566 176919566 single base substitution C T upstream_gene_variant LIRI-JP 3 176734158 176734158 single base substitution C G downstream_gene_variant LIRI-JP 3 176734945 176734945 single base substitution A G downstream_gene_variant LIRI-JP 3 176738712 176738712 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 176738712 176738712 single base substitution C A downstream_gene_variant LIRI-JP 3 176738712 176738712 single base substitution C A exon_variant LIRI-JP 3 176741019 176741019 single base substitution A T 3_prime_UTR_variant LIRI-JP 3 176741019 176741019 single base substitution A T downstream_gene_variant LIRI-JP 3 176741019 176741019 single base substitution A T exon_variant LIRI-JP 3 176741202 176741202 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 176741202 176741202 single base substitution T C exon_variant LIRI-JP 3 176741323 176741323 single base substitution T G 3_prime_UTR_variant LIRI-JP 3 176741323 176741323 single base substitution T G exon_variant LIRI-JP 3 176743405 176743405 single base substitution T C intron_variant LIRI-JP 3 176743438 176743438 single base substitution T A intron_variant LIRI-JP 3 176746706 176746706 single base substitution G A intron_variant LIRI-JP 3 176746706 176746706 single base substitution G A upstream_gene_variant LIRI-JP 3 176748624 176748624 single base substitution G T intron_variant LIRI-JP 3 176748624 176748624 single base substitution G T upstream_gene_variant LIRI-JP 3 176748685 176748685 single base substitution A C intron_variant LIRI-JP 3 176748685 176748685 single base substitution A C upstream_gene_variant LIRI-JP 3 176751499 176751499 single base substitution A C intron_variant LIRI-JP 3 176752108 176752108 single base substitution C A missense_variant W376C 1128G>T LIRI-JP 3 176753709 176753709 single base substitution C G intron_variant LIRI-JP 3 176755238 176755238 single base substitution G C intron_variant LIRI-JP 3 176761152 176761152 single base substitution T A intron_variant LIRI-JP 3 176762397 176762397 single base substitution G A intron_variant LIRI-JP 3 176762485 176762485 single base substitution T C intron_variant LIRI-JP 3 176763042 176763042 single base substitution T C intron_variant LIRI-JP 3 176763588 176763588 single base substitution T A downstream_gene_variant LIRI-JP 3 176763588 176763588 single base substitution T A intron_variant LIRI-JP 3 176763815 176763815 single base substitution T C downstream_gene_variant LIRI-JP 3 176763815 176763815 single base substitution T C intron_variant LIRI-JP 3 176765276 176765276 single base substitution T C downstream_gene_variant LIRI-JP 3 176765276 176765276 single base substitution T C missense_variant D255G 764A>G LIRI-JP 3 176766721 176766721 single base substitution T C downstream_gene_variant LIRI-JP 3 176766721 176766721 single base substitution T C intron_variant LIRI-JP 3 176767526 176767526 single base substitution A G downstream_gene_variant LIRI-JP 3 176767526 176767526 single base substitution A G intron_variant LIRI-JP 3 176768187 176768187 single base substitution A G downstream_gene_variant LIRI-JP 3 176768187 176768187 single base substitution A G intron_variant LIRI-JP 3 176768215 176768215 single base substitution T C downstream_gene_variant LIRI-JP 3 176768215 176768215 single base substitution T C intron_variant LIRI-JP 3 176768600 176768600 single base substitution T C downstream_gene_variant LIRI-JP 3 176768600 176768600 single base substitution T C intron_variant LIRI-JP 3 176769468 176769468 insertion of <=200bp - G 5_prime_UTR_variant LIRI-JP 3 176769468 176769468 insertion of <=200bp - G downstream_gene_variant LIRI-JP 3 176769468 176769468 insertion of <=200bp - G frameshift_variant I84I? LIRI-JP 3 176769492 176769492 single base substitution C G 5_prime_UTR_variant LIRI-JP 3 176769492 176769492 single base substitution C G downstream_gene_variant LIRI-JP 3 176769492 176769492 single base substitution C G missense_variant R76P 227G>C LIRI-JP 3 176771043 176771043 single base substitution C T downstream_gene_variant LIRI-JP 3 176771043 176771043 single base substitution C T intron_variant LIRI-JP 3 176771665 176771665 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 3 176771665 176771665 single base substitution T C downstream_gene_variant LIRI-JP 3 176771665 176771665 single base substitution T C missense_variant I34V 100A>G LIRI-JP 3 176772485 176772485 single base substitution T C intron_variant LIRI-JP 3 176774525 176774525 single base substitution T C intron_variant LIRI-JP 3 176774582 176774582 single base substitution T C intron_variant LIRI-JP 3 176775384 176775384 single base substitution G A intron_variant LIRI-JP 3 176775906 176775906 single base substitution T C intron_variant LIRI-JP 3 176775945 176775945 single base substitution T C intron_variant LIRI-JP 3 176775971 176775971 single base substitution A G intron_variant LIRI-JP 3 176776254 176776254 single base substitution T G intron_variant LIRI-JP 3 176777094 176777094 single base substitution T A intron_variant LIRI-JP 3 176780579 176780579 single base substitution A G intron_variant LIRI-JP 3 176781660 176781660 single base substitution A G intron_variant LIRI-JP 3 176783327 176783327 single base substitution A G intron_variant LIRI-JP 3 176787013 176787013 single base substitution G T intron_variant LIRI-JP 3 176789124 176789158 deletion of <=200bp AAGAGAAAAGGAGGCCAGGGTAATAAATACTACCC - intron_variant LIRI-JP 3 176789982 176789982 single base substitution A T intron_variant LIRI-JP 3 176790298 176790298 single base substitution G A intron_variant LIRI-JP 3 176791352 176791352 single base substitution C T intron_variant LIRI-JP 3 176794752 176794752 single base substitution T A downstream_gene_variant LIRI-JP 3 176794752 176794752 single base substitution T A intron_variant LIRI-JP 3 176798587 176798587 single base substitution G A intron_variant LIRI-JP 3 176799079 176799079 single base substitution T C intron_variant LIRI-JP 3 176799414 176799414 single base substitution T A intron_variant LIRI-JP 3 176800557 176800557 single base substitution A T intron_variant LIRI-JP 3 176804396 176804396 deletion of <=200bp C - intron_variant LIRI-JP 3 176805692 176805692 single base substitution C A intron_variant LIRI-JP 3 176807957 176807957 single base substitution T G intron_variant LIRI-JP 3 176809053 176809053 single base substitution G A intron_variant LIRI-JP 3 176809389 176809389 single base substitution A G intron_variant LIRI-JP 3 176809503 176809503 single base substitution G A intron_variant LIRI-JP 3 176810045 176810045 insertion of <=200bp - C intron_variant LIRI-JP 3 176817125 176817125 single base substitution A C intron_variant LIRI-JP 3 176817125 176817125 single base substitution A C upstream_gene_variant LIRI-JP 3 176817727 176817727 single base substitution T C intron_variant LIRI-JP 3 176817727 176817727 single base substitution T C upstream_gene_variant LIRI-JP 3 176818842 176818842 single base substitution T C intron_variant LIRI-JP 3 176818842 176818842 single base substitution T C upstream_gene_variant LIRI-JP 3 176819678 176819678 single base substitution T A intron_variant LIRI-JP 3 176819678 176819678 single base substitution T A upstream_gene_variant LIRI-JP 3 176822252 176822252 single base substitution C T intron_variant LIRI-JP 3 176824267 176824267 single base substitution A T intron_variant LIRI-JP 3 176824651 176824651 single base substitution T C intron_variant LIRI-JP 3 176826387 176826387 single base substitution T A intron_variant LIRI-JP 3 176828256 176828256 single base substitution T G intron_variant LIRI-JP 3 176832535 176832535 single base substitution G A intron_variant LIRI-JP 3 176834639 176834639 deletion of <=200bp A - intron_variant LIRI-JP 3 176839224 176839224 single base substitution T C intron_variant LIRI-JP 3 176840563 176840563 single base substitution A C intron_variant LIRI-JP 3 176843672 176843672 single base substitution T C intron_variant LIRI-JP 3 176844312 176844312 single base substitution C T intron_variant LIRI-JP 3 176847227 176847227 single base substitution T C intron_variant LIRI-JP 3 176848422 176848422 single base substitution C T intron_variant LIRI-JP 3 176850259 176850259 single base substitution C A intron_variant LIRI-JP 3 176851264 176851264 single base substitution T C intron_variant LIRI-JP 3 176855637 176855637 single base substitution A G intron_variant LIRI-JP 3 176855919 176855919 deletion of <=200bp A - intron_variant LIRI-JP 3 176856514 176856514 single base substitution T C intron_variant LIRI-JP 3 176859907 176859907 single base substitution T C intron_variant LIRI-JP 3 176860730 176860730 single base substitution T C intron_variant LIRI-JP 3 176862631 176862631 single base substitution A C intron_variant LIRI-JP 3 176863544 176863544 single base substitution G T intron_variant LIRI-JP 3 176865366 176865366 single base substitution T A intron_variant LIRI-JP 3 176865478 176865478 single base substitution T C intron_variant LIRI-JP 3 176866113 176866113 single base substitution T C intron_variant LIRI-JP 3 176866849 176866849 deletion of <=200bp A - intron_variant LIRI-JP 3 176867621 176867621 single base substitution T C intron_variant LIRI-JP 3 176869887 176869887 single base substitution A T intron_variant LIRI-JP 3 176871094 176871094 single base substitution T C intron_variant LIRI-JP 3 176871532 176871532 single base substitution G A intron_variant LIRI-JP 3 176871905 176871905 single base substitution A G intron_variant LIRI-JP 3 176873027 176873027 single base substitution A G intron_variant LIRI-JP 3 176873811 176873811 single base substitution T C intron_variant LIRI-JP 3 176874451 176874451 single base substitution C G intron_variant LIRI-JP 3 176875762 176875762 single base substitution C A intron_variant LIRI-JP 3 176877789 176877789 single base substitution G C intron_variant LIRI-JP 3 176880260 176880260 single base substitution T C intron_variant LIRI-JP 3 176880538 176880538 single base substitution A T intron_variant LIRI-JP 3 176880676 176880676 single base substitution C A intron_variant LIRI-JP 3 176880725 176880725 single base substitution T C intron_variant LIRI-JP 3 176883563 176883563 single base substitution C A intron_variant LIRI-JP 3 176883564 176883564 single base substitution C G intron_variant LIRI-JP 3 176885849 176885849 single base substitution T C intron_variant LIRI-JP 3 176886724 176886724 single base substitution T C intron_variant LIRI-JP 3 176889582 176889582 single base substitution A T intron_variant LIRI-JP 3 176891992 176891992 single base substitution T C intron_variant LIRI-JP 3 176892974 176892974 single base substitution T C intron_variant LIRI-JP 3 176895809 176895809 single base substitution T C intron_variant LIRI-JP 3 176898642 176898642 single base substitution A G intron_variant LIRI-JP 3 176901017 176901017 single base substitution T C intron_variant LIRI-JP 3 176901064 176901064 single base substitution T C intron_variant LIRI-JP 3 176902926 176902929 deletion of <=200bp TCTC - intron_variant LIRI-JP 3 176903583 176903583 single base substitution G C intron_variant LIRI-JP 3 176903611 176903611 single base substitution G T intron_variant LIRI-JP 3 176906156 176906156 single base substitution C T intron_variant LIRI-JP 3 176907548 176907548 single base substitution G A intron_variant LIRI-JP 3 176908237 176908237 single base substitution A G intron_variant LIRI-JP 3 176908397 176908397 single base substitution T A intron_variant LIRI-JP 3 176911617 176911617 single base substitution C A intron_variant LIRI-JP 3 176913021 176913021 single base substitution T G intron_variant LIRI-JP 3 176913298 176913298 single base substitution T C intron_variant LIRI-JP 3 176915769 176915769 single base substitution C G upstream_gene_variant LIRI-JP 3 176915890 176915890 insertion of <=200bp - GA upstream_gene_variant LIRI-JP 3 176917198 176917198 single base substitution A G upstream_gene_variant LIRI-JP 3 176918260 176918260 single base substitution T A upstream_gene_variant LUSC-KR 3 176732879 176732879 single base substitution C G downstream_gene_variant LUSC-KR 3 176735932 176735932 single base substitution C A downstream_gene_variant LUSC-KR 3 176736934 176736934 single base substitution G C downstream_gene_variant LUSC-KR 3 176737104 176737104 single base substitution T A downstream_gene_variant LUSC-KR 3 176742224 176742224 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 176742224 176742224 single base substitution G A exon_variant LUSC-KR 3 176742494 176742494 single base substitution C A 3_prime_UTR_variant LUSC-KR 3 176742494 176742494 single base substitution C A exon_variant LUSC-KR 3 176742519 176742519 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 176742519 176742519 single base substitution G A exon_variant LUSC-KR 3 176744325 176744325 single base substitution G A exon_variant LUSC-KR 3 176744325 176744325 single base substitution G A intron_variant LUSC-KR 3 176744514 176744514 single base substitution A C exon_variant LUSC-KR 3 176744514 176744514 single base substitution A C intron_variant LUSC-KR 3 176744595 176744595 single base substitution G A exon_variant LUSC-KR 3 176744595 176744595 single base substitution G A intron_variant LUSC-KR 3 176744750 176744750 single base substitution G A exon_variant LUSC-KR 3 176744750 176744750 single base substitution G A intron_variant LUSC-KR 3 176748038 176748038 single base substitution T C intron_variant LUSC-KR 3 176748038 176748038 single base substitution T C upstream_gene_variant LUSC-KR 3 176748477 176748477 single base substitution C A intron_variant LUSC-KR 3 176748477 176748477 single base substitution C A upstream_gene_variant LUSC-KR 3 176750005 176750005 single base substitution C G intron_variant LUSC-KR 3 176750005 176750005 single base substitution C G upstream_gene_variant LUSC-KR 3 176750674 176750674 single base substitution C G intron_variant LUSC-KR 3 176752181 176752181 single base substitution G C intron_variant LUSC-KR 3 176752466 176752466 single base substitution G A intron_variant LUSC-KR 3 176752690 176752690 single base substitution G C intron_variant LUSC-KR 3 176753017 176753017 single base substitution T C intron_variant LUSC-KR 3 176754032 176754032 single base substitution C A intron_variant LUSC-KR 3 176754362 176754362 single base substitution T C intron_variant LUSC-KR 3 176757605 176757605 single base substitution G A intron_variant LUSC-KR 3 176758321 176758321 single base substitution G A intron_variant LUSC-KR 3 176761372 176761372 single base substitution T A intron_variant LUSC-KR 3 176761638 176761638 single base substitution T C intron_variant LUSC-KR 3 176762161 176762161 single base substitution A G intron_variant LUSC-KR 3 176763971 176763971 single base substitution T C downstream_gene_variant LUSC-KR 3 176763971 176763971 single base substitution T C missense_variant I291V 871A>G LUSC-KR 3 176767019 176767019 single base substitution A C downstream_gene_variant LUSC-KR 3 176767019 176767019 single base substitution A C intron_variant LUSC-KR 3 176781930 176781930 single base substitution C A intron_variant LUSC-KR 3 176782769 176782769 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 176782769 176782769 single base substitution T C intron_variant LUSC-KR 3 176786455 176786455 single base substitution G T intron_variant LUSC-KR 3 176786491 176786491 single base substitution A T intron_variant LUSC-KR 3 176787551 176787551 single base substitution A G intron_variant LUSC-KR 3 176790884 176790884 single base substitution T C intron_variant LUSC-KR 3 176794214 176794214 single base substitution C A downstream_gene_variant LUSC-KR 3 176794214 176794214 single base substitution C A intron_variant LUSC-KR 3 176795377 176795377 single base substitution C G downstream_gene_variant LUSC-KR 3 176795377 176795377 single base substitution C G intron_variant LUSC-KR 3 176799988 176799988 single base substitution A G intron_variant LUSC-KR 3 176800040 176800040 single base substitution G C intron_variant LUSC-KR 3 176804381 176804381 single base substitution C T intron_variant LUSC-KR 3 176806316 176806316 single base substitution C G intron_variant LUSC-KR 3 176807725 176807725 single base substitution T A intron_variant LUSC-KR 3 176807885 176807885 single base substitution G C intron_variant LUSC-KR 3 176808687 176808687 single base substitution G C intron_variant LUSC-KR 3 176808841 176808841 single base substitution G A intron_variant LUSC-KR 3 176812819 176812819 single base substitution T G intron_variant LUSC-KR 3 176816592 176816592 single base substitution C T intron_variant LUSC-KR 3 176816592 176816592 single base substitution C T upstream_gene_variant LUSC-KR 3 176816817 176816817 single base substitution T A intron_variant LUSC-KR 3 176816817 176816817 single base substitution T A upstream_gene_variant LUSC-KR 3 176819224 176819224 single base substitution A C intron_variant LUSC-KR 3 176819224 176819224 single base substitution A C upstream_gene_variant LUSC-KR 3 176820191 176820191 single base substitution G C intron_variant LUSC-KR 3 176820191 176820191 single base substitution G C upstream_gene_variant LUSC-KR 3 176821919 176821919 single base substitution G A intron_variant LUSC-KR 3 176824391 176824391 single base substitution G A intron_variant LUSC-KR 3 176828502 176828502 single base substitution G C intron_variant LUSC-KR 3 176828545 176828545 single base substitution G C intron_variant LUSC-KR 3 176828665 176828665 single base substitution G C intron_variant LUSC-KR 3 176828999 176828999 single base substitution G C intron_variant LUSC-KR 3 176831304 176831304 single base substitution A T intron_variant LUSC-KR 3 176835125 176835125 single base substitution G A intron_variant LUSC-KR 3 176838157 176838157 single base substitution G C intron_variant LUSC-KR 3 176843605 176843605 single base substitution G C intron_variant LUSC-KR 3 176845622 176845622 single base substitution G C intron_variant LUSC-KR 3 176846691 176846691 single base substitution T C intron_variant LUSC-KR 3 176847824 176847824 single base substitution T A intron_variant LUSC-KR 3 176848809 176848809 single base substitution T A intron_variant LUSC-KR 3 176852767 176852767 single base substitution C G intron_variant LUSC-KR 3 176853060 176853060 single base substitution G T intron_variant LUSC-KR 3 176855558 176855558 single base substitution G A intron_variant LUSC-KR 3 176857918 176857918 single base substitution G A intron_variant LUSC-KR 3 176858028 176858028 single base substitution C T intron_variant LUSC-KR 3 176858075 176858075 single base substitution G A intron_variant LUSC-KR 3 176858614 176858614 single base substitution G A intron_variant LUSC-KR 3 176863628 176863628 single base substitution T C intron_variant LUSC-KR 3 176864197 176864197 single base substitution C A intron_variant LUSC-KR 3 176867773 176867773 single base substitution A T intron_variant LUSC-KR 3 176869532 176869532 single base substitution G C intron_variant LUSC-KR 3 176869603 176869603 single base substitution G A intron_variant LUSC-KR 3 176869886 176869886 single base substitution G A intron_variant LUSC-KR 3 176870830 176870830 single base substitution G C intron_variant LUSC-KR 3 176872478 176872478 single base substitution C T intron_variant LUSC-KR 3 176873690 176873690 single base substitution G A intron_variant LUSC-KR 3 176873698 176873698 single base substitution G T intron_variant LUSC-KR 3 176875577 176875577 single base substitution A T intron_variant LUSC-KR 3 176878661 176878661 single base substitution G A intron_variant LUSC-KR 3 176878661 176878661 single base substitution G A splice_region_variant LUSC-KR 3 176884962 176884962 single base substitution G A intron_variant LUSC-KR 3 176889303 176889303 single base substitution G A intron_variant LUSC-KR 3 176890474 176890474 single base substitution A G intron_variant LUSC-KR 3 176890740 176890740 single base substitution C G intron_variant LUSC-KR 3 176891252 176891252 single base substitution G C intron_variant LUSC-KR 3 176893963 176893963 single base substitution G A intron_variant LUSC-KR 3 176894236 176894236 single base substitution C T intron_variant LUSC-KR 3 176895022 176895022 single base substitution G A intron_variant LUSC-KR 3 176896395 176896395 single base substitution G A intron_variant LUSC-KR 3 176899364 176899364 single base substitution C A intron_variant LUSC-KR 3 176899365 176899365 single base substitution A T intron_variant LUSC-KR 3 176909390 176909390 single base substitution T A intron_variant LUSC-KR 3 176909450 176909450 single base substitution G C intron_variant LUSC-KR 3 176910122 176910122 single base substitution G C intron_variant LUSC-KR 3 176912404 176912404 single base substitution G T intron_variant LUSC-KR 3 176913500 176913500 single base substitution G A intron_variant LUSC-KR 3 176914862 176914862 single base substitution C G intron_variant LUSC-KR 3 176914862 176914862 single base substitution C G upstream_gene_variant LUSC-KR 3 176917975 176917975 single base substitution G A upstream_gene_variant LUSC-KR 3 176919261 176919261 single base substitution C T upstream_gene_variant LUSC-KR 3 176919914 176919914 single base substitution A C upstream_gene_variant LUSC-US 3 176743300 176743300 single base substitution C G exon_variant LUSC-US 3 176743300 176743300 single base substitution C G missense_variant D511H 1531G>C LUSC-US 3 176756174 176756174 single base substitution C G missense_variant C325S 974G>C LUSC-US 3 176769461 176769461 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 3 176769461 176769461 single base substitution G A downstream_gene_variant LUSC-US 3 176769461 176769461 single base substitution G A synonymous_variant A86A 258C>T LUSC-US 3 176769497 176769497 single base substitution A G 5_prime_UTR_variant LUSC-US 3 176769497 176769497 single base substitution A G downstream_gene_variant LUSC-US 3 176769497 176769497 single base substitution A G synonymous_variant D74D 222T>C MALY-DE 3 176733485 176733485 single base substitution T A downstream_gene_variant MALY-DE 3 176740980 176740980 single base substitution C T 3_prime_UTR_variant MALY-DE 3 176740980 176740980 single base substitution C T downstream_gene_variant MALY-DE 3 176740980 176740980 single base substitution C T exon_variant MALY-DE 3 176741967 176741967 single base substitution G C 3_prime_UTR_variant MALY-DE 3 176741967 176741967 single base substitution G C exon_variant MALY-DE 3 176743312 176743312 single base substitution C A missense_variant V507F 1519G>T MALY-DE 3 176743312 176743312 single base substitution C A splice_region_variant MALY-DE 3 176747957 176747957 single base substitution C T intron_variant MALY-DE 3 176747957 176747957 single base substitution C T upstream_gene_variant MALY-DE 3 176750838 176750838 single base substitution T C missense_variant Y446C 1337A>G MALY-DE 3 176752053 176752053 single base substitution A C missense_variant Y395D 1183T>G MALY-DE 3 176752110 176752110 single base substitution A C missense_variant W376G 1126T>G MALY-DE 3 176755103 176755103 single base substitution G C intron_variant MALY-DE 3 176755883 176755885 deletion of <=200bp TAC - splice_donor_variant MALY-DE 3 176755884 176755907 deletion of <=200bp ACCTTTAAAGTCATGTCGTCAGAA - frameshift_variant CSDDMTLK367 MALY-DE 3 176758437 176758437 single base substitution A T intron_variant MALY-DE 3 176759610 176759610 single base substitution G C intron_variant MALY-DE 3 176761422 176761422 single base substitution T C intron_variant MALY-DE 3 176765152 176765152 single base substitution C A downstream_gene_variant MALY-DE 3 176765152 176765152 single base substitution C A missense_variant G267V 800G>T MALY-DE 3 176765152 176765152 single base substitution C T downstream_gene_variant MALY-DE 3 176765152 176765152 single base substitution C T missense_variant G267D 800G>A MALY-DE 3 176770986 176770986 single base substitution T A downstream_gene_variant MALY-DE 3 176770986 176770986 single base substitution T A intron_variant MALY-DE 3 176775149 176775149 single base substitution T C intron_variant MALY-DE 3 176785815 176785816 deletion of <=200bp CT - intron_variant MALY-DE 3 176788676 176788676 single base substitution G C intron_variant MALY-DE 3 176789063 176789063 single base substitution A T intron_variant MALY-DE 3 176793003 176793003 single base substitution C T downstream_gene_variant MALY-DE 3 176793003 176793003 single base substitution C T intron_variant MALY-DE 3 176796210 176796210 single base substitution A T downstream_gene_variant MALY-DE 3 176796210 176796210 single base substitution A T intron_variant MALY-DE 3 176801677 176801677 single base substitution A C intron_variant MALY-DE 3 176804141 176804141 single base substitution G C intron_variant MALY-DE 3 176808464 176808464 single base substitution T A intron_variant MALY-DE 3 176809823 176809823 single base substitution T C intron_variant MALY-DE 3 176813270 176813270 single base substitution A G intron_variant MALY-DE 3 176814124 176814124 insertion of <=200bp - ACACACACACAC intron_variant MALY-DE 3 176818677 176818677 single base substitution G A intron_variant MALY-DE 3 176818677 176818677 single base substitution G A upstream_gene_variant MALY-DE 3 176821141 176821141 single base substitution A C intron_variant MALY-DE 3 176821141 176821141 single base substitution A C upstream_gene_variant MALY-DE 3 176821269 176821270 deletion of <=200bp TG - intron_variant MALY-DE 3 176821269 176821270 deletion of <=200bp TG - upstream_gene_variant MALY-DE 3 176827813 176827813 single base substitution A C intron_variant MALY-DE 3 176830793 176830793 insertion of <=200bp - AC intron_variant MALY-DE 3 176833284 176833284 single base substitution G T intron_variant MALY-DE 3 176833861 176833861 single base substitution A T intron_variant MALY-DE 3 176835220 176835220 single base substitution G A intron_variant MALY-DE 3 176838501 176838501 single base substitution G T intron_variant MALY-DE 3 176842362 176842362 single base substitution G A intron_variant MALY-DE 3 176847494 176847494 single base substitution A G intron_variant MALY-DE 3 176861909 176861909 single base substitution T G intron_variant MALY-DE 3 176863081 176863081 single base substitution T C intron_variant MALY-DE 3 176871736 176871736 single base substitution A C intron_variant MALY-DE 3 176872338 176872338 single base substitution C T intron_variant MALY-DE 3 176873729 176873729 single base substitution G A intron_variant MALY-DE 3 176873920 176873920 single base substitution A G intron_variant MALY-DE 3 176874004 176874004 single base substitution A T intron_variant MALY-DE 3 176879266 176879266 single base substitution A C intron_variant MALY-DE 3 176885340 176885340 single base substitution A G intron_variant MALY-DE 3 176887286 176887286 single base substitution A C intron_variant MALY-DE 3 176887363 176887363 single base substitution A C intron_variant MALY-DE 3 176890826 176890826 single base substitution T A intron_variant MALY-DE 3 176897910 176897910 single base substitution A G intron_variant MALY-DE 3 176898151 176898151 single base substitution T A intron_variant MALY-DE 3 176898834 176898834 single base substitution A T intron_variant MALY-DE 3 176900547 176900547 single base substitution G T intron_variant MALY-DE 3 176913829 176913829 single base substitution C T intron_variant MALY-DE 3 176914075 176914075 single base substitution G A intron_variant MALY-DE 3 176914123 176914123 single base substitution C G intron_variant MALY-DE 3 176914503 176914503 single base substitution C T intron_variant MALY-DE 3 176914503 176914503 single base substitution C T upstream_gene_variant MALY-DE 3 176914535 176914535 single base substitution C G intron_variant MALY-DE 3 176914535 176914535 single base substitution C G upstream_gene_variant MALY-DE 3 176914669 176914669 single base substitution G C intron_variant MALY-DE 3 176914669 176914669 single base substitution G C upstream_gene_variant MALY-DE 3 176914793 176914793 single base substitution C T intron_variant MALY-DE 3 176914793 176914793 single base substitution C T upstream_gene_variant MELA-AU 3 176732224 176732224 single base substitution G A downstream_gene_variant MELA-AU 3 176733688 176733688 single base substitution G A downstream_gene_variant MELA-AU 3 176734018 176734018 single base substitution G A downstream_gene_variant MELA-AU 3 176734226 176734226 single base substitution G A downstream_gene_variant MELA-AU 3 176734514 176734514 single base substitution G A downstream_gene_variant MELA-AU 3 176734755 176734755 single base substitution G A downstream_gene_variant MELA-AU 3 176735361 176735361 single base substitution G A downstream_gene_variant MELA-AU 3 176735579 176735579 deletion of <=200bp C - downstream_gene_variant MELA-AU 3 176735667 176735667 single base substitution A G downstream_gene_variant MELA-AU 3 176735758 176735758 single base substitution G A downstream_gene_variant MELA-AU 3 176737580 176737581 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 176737580 176737581 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 176737581 176737581 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176737581 176737581 single base substitution G A downstream_gene_variant MELA-AU 3 176737818 176737818 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176737818 176737818 single base substitution G A downstream_gene_variant MELA-AU 3 176738409 176738409 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176738409 176738409 single base substitution G A downstream_gene_variant MELA-AU 3 176738859 176738859 single base substitution T C 3_prime_UTR_variant MELA-AU 3 176738859 176738859 single base substitution T C downstream_gene_variant MELA-AU 3 176738859 176738859 single base substitution T C exon_variant MELA-AU 3 176738940 176738940 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176738940 176738940 single base substitution G A downstream_gene_variant MELA-AU 3 176738940 176738940 single base substitution G A exon_variant MELA-AU 3 176739026 176739026 single base substitution C A 3_prime_UTR_variant MELA-AU 3 176739026 176739026 single base substitution C A downstream_gene_variant MELA-AU 3 176739026 176739026 single base substitution C A exon_variant MELA-AU 3 176739390 176739390 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176739390 176739390 single base substitution G A downstream_gene_variant MELA-AU 3 176739390 176739390 single base substitution G A exon_variant MELA-AU 3 176739890 176739890 single base substitution C T 3_prime_UTR_variant MELA-AU 3 176739890 176739890 single base substitution C T downstream_gene_variant MELA-AU 3 176739890 176739890 single base substitution C T exon_variant MELA-AU 3 176740351 176740351 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176740351 176740351 single base substitution G A downstream_gene_variant MELA-AU 3 176740351 176740351 single base substitution G A exon_variant MELA-AU 3 176740775 176740775 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176740775 176740775 single base substitution G A downstream_gene_variant MELA-AU 3 176740775 176740775 single base substitution G A exon_variant MELA-AU 3 176742807 176742807 single base substitution G A 3_prime_UTR_variant MELA-AU 3 176742807 176742807 single base substitution G A exon_variant MELA-AU 3 176743957 176743957 single base substitution G A intron_variant MELA-AU 3 176744057 176744057 single base substitution T A intron_variant MELA-AU 3 176744273 176744273 single base substitution G A exon_variant MELA-AU 3 176744273 176744273 single base substitution G A intron_variant MELA-AU 3 176744626 176744626 single base substitution A T exon_variant MELA-AU 3 176744626 176744626 single base substitution A T intron_variant MELA-AU 3 176744949 176744949 single base substitution G A exon_variant MELA-AU 3 176744949 176744949 single base substitution G A intron_variant MELA-AU 3 176745053 176745053 single base substitution T C exon_variant MELA-AU 3 176745053 176745053 single base substitution T C intron_variant MELA-AU 3 176746453 176746453 single base substitution G A intron_variant MELA-AU 3 176746453 176746453 single base substitution G A upstream_gene_variant MELA-AU 3 176746726 176746727 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176746726 176746727 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 176747167 176747167 single base substitution G A intron_variant MELA-AU 3 176747167 176747167 single base substitution G A upstream_gene_variant MELA-AU 3 176747218 176747218 single base substitution G A intron_variant MELA-AU 3 176747218 176747218 single base substitution G A upstream_gene_variant MELA-AU 3 176747500 176747500 single base substitution G A intron_variant MELA-AU 3 176747500 176747500 single base substitution G A upstream_gene_variant MELA-AU 3 176747528 176747528 single base substitution G A intron_variant MELA-AU 3 176747528 176747528 single base substitution G A upstream_gene_variant MELA-AU 3 176747910 176747910 single base substitution A G intron_variant MELA-AU 3 176747910 176747910 single base substitution A G upstream_gene_variant MELA-AU 3 176748168 176748168 single base substitution G A intron_variant MELA-AU 3 176748168 176748168 single base substitution G A upstream_gene_variant MELA-AU 3 176748287 176748287 single base substitution G A intron_variant MELA-AU 3 176748287 176748287 single base substitution G A upstream_gene_variant MELA-AU 3 176749061 176749061 single base substitution C T intron_variant MELA-AU 3 176749061 176749061 single base substitution C T upstream_gene_variant MELA-AU 3 176750668 176750668 single base substitution G A intron_variant MELA-AU 3 176750934 176750934 single base substitution G A intron_variant MELA-AU 3 176751859 176751859 single base substitution T G intron_variant MELA-AU 3 176751963 176751963 single base substitution G A intron_variant MELA-AU 3 176752760 176752760 single base substitution G A intron_variant MELA-AU 3 176753295 176753295 single base substitution G A intron_variant MELA-AU 3 176754080 176754080 single base substitution C G intron_variant MELA-AU 3 176754351 176754351 single base substitution A G intron_variant MELA-AU 3 176754452 176754452 single base substitution A G intron_variant MELA-AU 3 176756317 176756317 single base substitution T C intron_variant MELA-AU 3 176756319 176756319 single base substitution A G intron_variant MELA-AU 3 176756643 176756643 single base substitution A G intron_variant MELA-AU 3 176758651 176758652 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176759905 176759923 deletion of <=200bp ACTGTGCACTTTCATTTTG - intron_variant MELA-AU 3 176759976 176759976 single base substitution A T intron_variant MELA-AU 3 176760564 176760564 single base substitution G A intron_variant MELA-AU 3 176760702 176760702 single base substitution A T intron_variant MELA-AU 3 176760876 176760877 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 176761385 176761385 single base substitution G A intron_variant MELA-AU 3 176761446 176761446 single base substitution C T intron_variant MELA-AU 3 176761721 176761721 single base substitution A T intron_variant MELA-AU 3 176761760 176761760 single base substitution C T intron_variant MELA-AU 3 176761866 176761866 single base substitution G A intron_variant MELA-AU 3 176762304 176762304 single base substitution G A intron_variant MELA-AU 3 176762592 176762592 single base substitution G A intron_variant MELA-AU 3 176762942 176762942 single base substitution G A intron_variant MELA-AU 3 176763407 176763407 single base substitution A C downstream_gene_variant MELA-AU 3 176763407 176763407 single base substitution A C intron_variant MELA-AU 3 176763425 176763425 single base substitution G A downstream_gene_variant MELA-AU 3 176763425 176763425 single base substitution G A intron_variant MELA-AU 3 176763467 176763467 single base substitution G A downstream_gene_variant MELA-AU 3 176763467 176763467 single base substitution G A intron_variant MELA-AU 3 176763820 176763820 single base substitution G A downstream_gene_variant MELA-AU 3 176763820 176763820 single base substitution G A intron_variant MELA-AU 3 176764441 176764441 single base substitution G A downstream_gene_variant MELA-AU 3 176764441 176764441 single base substitution G A intron_variant MELA-AU 3 176765199 176765199 single base substitution G A downstream_gene_variant MELA-AU 3 176765199 176765199 single base substitution G A intron_variant MELA-AU 3 176765544 176765544 single base substitution T C downstream_gene_variant MELA-AU 3 176765544 176765544 single base substitution T C intron_variant MELA-AU 3 176765642 176765642 single base substitution A G downstream_gene_variant MELA-AU 3 176765642 176765642 single base substitution A G intron_variant MELA-AU 3 176766677 176766677 single base substitution A T downstream_gene_variant MELA-AU 3 176766677 176766677 single base substitution A T intron_variant MELA-AU 3 176766943 176766943 single base substitution A G downstream_gene_variant MELA-AU 3 176766943 176766943 single base substitution A G intron_variant MELA-AU 3 176767316 176767316 single base substitution G A downstream_gene_variant MELA-AU 3 176767316 176767316 single base substitution G A intron_variant MELA-AU 3 176767632 176767632 single base substitution G A downstream_gene_variant MELA-AU 3 176767632 176767632 single base substitution G A intron_variant MELA-AU 3 176768871 176768871 single base substitution G A downstream_gene_variant MELA-AU 3 176768871 176768871 single base substitution G A intron_variant MELA-AU 3 176769083 176769083 single base substitution G A downstream_gene_variant MELA-AU 3 176769083 176769083 single base substitution G A intron_variant MELA-AU 3 176769473 176769473 single base substitution G A 5_prime_UTR_variant MELA-AU 3 176769473 176769473 single base substitution G A downstream_gene_variant MELA-AU 3 176769473 176769473 single base substitution G A synonymous_variant S82S 246C>T MELA-AU 3 176769669 176769669 single base substitution A T downstream_gene_variant MELA-AU 3 176769669 176769669 single base substitution A T intron_variant MELA-AU 3 176771605 176771605 single base substitution G A 5_prime_UTR_variant MELA-AU 3 176771605 176771605 single base substitution G A downstream_gene_variant MELA-AU 3 176771605 176771605 single base substitution G A stop_gained Q54* 160C>T MELA-AU 3 176771859 176771859 single base substitution T C intron_variant MELA-AU 3 176771861 176771861 single base substitution T C intron_variant MELA-AU 3 176771917 176771917 single base substitution C T intron_variant MELA-AU 3 176772146 176772146 single base substitution G A intron_variant MELA-AU 3 176773052 176773052 single base substitution G A intron_variant MELA-AU 3 176774694 176774694 single base substitution C T intron_variant MELA-AU 3 176774851 176774851 single base substitution C T intron_variant MELA-AU 3 176775067 176775067 single base substitution C T intron_variant MELA-AU 3 176775350 176775350 single base substitution G A intron_variant MELA-AU 3 176775463 176775463 single base substitution G A intron_variant MELA-AU 3 176776693 176776693 single base substitution G A intron_variant MELA-AU 3 176777491 176777491 single base substitution G A intron_variant MELA-AU 3 176777748 176777748 single base substitution A G intron_variant MELA-AU 3 176778020 176778020 single base substitution A T intron_variant MELA-AU 3 176778727 176778727 single base substitution T A intron_variant MELA-AU 3 176779719 176779720 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 176781874 176781874 single base substitution C T intron_variant MELA-AU 3 176782099 176782099 single base substitution C T intron_variant MELA-AU 3 176782512 176782512 single base substitution G A intron_variant MELA-AU 3 176782968 176782968 single base substitution G A intron_variant MELA-AU 3 176784516 176784516 single base substitution T A intron_variant MELA-AU 3 176784935 176784935 single base substitution G A intron_variant MELA-AU 3 176784988 176784988 single base substitution G A intron_variant MELA-AU 3 176785075 176785075 single base substitution G A intron_variant MELA-AU 3 176786873 176786873 single base substitution A G intron_variant MELA-AU 3 176786912 176786912 single base substitution G A intron_variant MELA-AU 3 176787172 176787172 single base substitution G A intron_variant MELA-AU 3 176787588 176787588 single base substitution G A intron_variant MELA-AU 3 176787641 176787641 single base substitution G A intron_variant MELA-AU 3 176788109 176788109 single base substitution T C intron_variant MELA-AU 3 176788341 176788341 single base substitution G A intron_variant MELA-AU 3 176788458 176788458 single base substitution G A intron_variant MELA-AU 3 176788595 176788595 single base substitution C T intron_variant MELA-AU 3 176788812 176788812 single base substitution A T intron_variant MELA-AU 3 176789277 176789277 single base substitution G C intron_variant MELA-AU 3 176792115 176792115 single base substitution G A intron_variant MELA-AU 3 176792206 176792206 single base substitution G A intron_variant MELA-AU 3 176792222 176792222 single base substitution G A intron_variant MELA-AU 3 176792491 176792491 single base substitution C T downstream_gene_variant MELA-AU 3 176792491 176792491 single base substitution C T intron_variant MELA-AU 3 176794318 176794318 single base substitution G A downstream_gene_variant MELA-AU 3 176794318 176794318 single base substitution G A intron_variant MELA-AU 3 176795109 176795109 single base substitution A C downstream_gene_variant MELA-AU 3 176795109 176795109 single base substitution A C intron_variant MELA-AU 3 176795205 176795205 insertion of <=200bp - G downstream_gene_variant MELA-AU 3 176795205 176795205 insertion of <=200bp - G intron_variant MELA-AU 3 176795216 176795216 single base substitution G A downstream_gene_variant MELA-AU 3 176795216 176795216 single base substitution G A intron_variant MELA-AU 3 176795236 176795236 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 176795236 176795236 deletion of <=200bp T - intron_variant MELA-AU 3 176796181 176796181 single base substitution G A downstream_gene_variant MELA-AU 3 176796181 176796181 single base substitution G A intron_variant MELA-AU 3 176796714 176796714 single base substitution G A downstream_gene_variant MELA-AU 3 176796714 176796714 single base substitution G A intron_variant MELA-AU 3 176797530 176797530 single base substitution G A exon_variant MELA-AU 3 176797530 176797530 single base substitution G A intron_variant MELA-AU 3 176797834 176797834 single base substitution A T intron_variant MELA-AU 3 176798099 176798099 single base substitution G A intron_variant MELA-AU 3 176798407 176798407 single base substitution G A intron_variant MELA-AU 3 176798408 176798408 insertion of <=200bp - A intron_variant MELA-AU 3 176798562 176798562 single base substitution A G intron_variant MELA-AU 3 176799040 176799040 single base substitution G A intron_variant MELA-AU 3 176799318 176799318 single base substitution A C intron_variant MELA-AU 3 176800568 176800568 single base substitution G A intron_variant MELA-AU 3 176800810 176800810 single base substitution G A intron_variant MELA-AU 3 176801344 176801344 single base substitution C T intron_variant MELA-AU 3 176801734 176801735 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176802636 176802636 single base substitution G A intron_variant MELA-AU 3 176803264 176803264 single base substitution G A intron_variant MELA-AU 3 176803333 176803333 single base substitution G A intron_variant MELA-AU 3 176803531 176803531 single base substitution C T intron_variant MELA-AU 3 176804506 176804506 single base substitution G A intron_variant MELA-AU 3 176804534 176804534 single base substitution G A intron_variant MELA-AU 3 176804976 176804976 single base substitution C T intron_variant MELA-AU 3 176805668 176805668 single base substitution A G intron_variant MELA-AU 3 176805670 176805670 single base substitution G A intron_variant MELA-AU 3 176805999 176805999 single base substitution A G intron_variant MELA-AU 3 176806839 176806839 single base substitution A G intron_variant MELA-AU 3 176807000 176807000 single base substitution G A intron_variant MELA-AU 3 176807178 176807178 single base substitution G A intron_variant MELA-AU 3 176807970 176807970 single base substitution C T intron_variant MELA-AU 3 176808204 176808204 single base substitution G A intron_variant MELA-AU 3 176808598 176808598 single base substitution G A intron_variant MELA-AU 3 176808780 176808780 single base substitution G A intron_variant MELA-AU 3 176808827 176808827 single base substitution A G intron_variant MELA-AU 3 176808831 176808831 single base substitution G A intron_variant MELA-AU 3 176808832 176808832 single base substitution G A intron_variant MELA-AU 3 176809948 176809948 single base substitution A G intron_variant MELA-AU 3 176810069 176810069 single base substitution G A intron_variant MELA-AU 3 176810276 176810276 single base substitution A G intron_variant MELA-AU 3 176810700 176810700 single base substitution G A intron_variant MELA-AU 3 176811825 176811825 single base substitution G A intron_variant MELA-AU 3 176811899 176811899 single base substitution G A intron_variant MELA-AU 3 176812467 176812467 single base substitution G A intron_variant MELA-AU 3 176812541 176812541 single base substitution G A intron_variant MELA-AU 3 176812670 176812670 single base substitution G A intron_variant MELA-AU 3 176812768 176812768 single base substitution G A intron_variant MELA-AU 3 176813285 176813285 single base substitution T A intron_variant MELA-AU 3 176813798 176813798 single base substitution C G intron_variant MELA-AU 3 176814365 176814365 single base substitution G A intron_variant MELA-AU 3 176815544 176815544 single base substitution G A intron_variant MELA-AU 3 176819714 176819714 single base substitution G A intron_variant MELA-AU 3 176819714 176819714 single base substitution G A upstream_gene_variant MELA-AU 3 176819878 176819878 single base substitution T A intron_variant MELA-AU 3 176819878 176819878 single base substitution T A upstream_gene_variant MELA-AU 3 176820277 176820277 single base substitution C T intron_variant MELA-AU 3 176820277 176820277 single base substitution C T upstream_gene_variant MELA-AU 3 176822057 176822057 single base substitution A C intron_variant MELA-AU 3 176822293 176822293 single base substitution G A intron_variant MELA-AU 3 176822428 176822428 single base substitution G A intron_variant MELA-AU 3 176822775 176822775 single base substitution C T intron_variant MELA-AU 3 176822930 176822930 single base substitution C T intron_variant MELA-AU 3 176823395 176823395 single base substitution C T intron_variant MELA-AU 3 176823754 176823755 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176825499 176825499 single base substitution G A intron_variant MELA-AU 3 176826318 176826318 insertion of <=200bp - TTTATTTTCTTTACAATAAGAAATTTT intron_variant MELA-AU 3 176826318 176826318 single base substitution C T intron_variant MELA-AU 3 176826443 176826444 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 176826786 176826786 single base substitution G A intron_variant MELA-AU 3 176826873 176826882 deletion of <=200bp TAAATCATAA - intron_variant MELA-AU 3 176828549 176828550 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 3 176829239 176829239 single base substitution T A intron_variant MELA-AU 3 176829545 176829545 single base substitution G A intron_variant MELA-AU 3 176829613 176829613 single base substitution G A intron_variant MELA-AU 3 176829628 176829628 single base substitution G A intron_variant MELA-AU 3 176829656 176829656 single base substitution A T intron_variant MELA-AU 3 176830692 176830692 single base substitution G A intron_variant MELA-AU 3 176830727 176830727 single base substitution G A intron_variant MELA-AU 3 176831006 176831006 single base substitution A G intron_variant MELA-AU 3 176831282 176831282 single base substitution T A intron_variant MELA-AU 3 176831284 176831284 single base substitution A G intron_variant MELA-AU 3 176831442 176831442 single base substitution G A intron_variant MELA-AU 3 176832112 176832112 single base substitution G T intron_variant MELA-AU 3 176832813 176832813 single base substitution A T intron_variant MELA-AU 3 176834172 176834172 single base substitution A G intron_variant MELA-AU 3 176835111 176835112 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 3 176835654 176835654 single base substitution G A intron_variant MELA-AU 3 176837227 176837227 single base substitution T C intron_variant MELA-AU 3 176837593 176837593 single base substitution G A intron_variant MELA-AU 3 176838496 176838496 single base substitution C A intron_variant MELA-AU 3 176839105 176839105 single base substitution G A intron_variant MELA-AU 3 176840538 176840538 single base substitution G A intron_variant MELA-AU 3 176841691 176841691 single base substitution G A intron_variant MELA-AU 3 176841791 176841791 single base substitution T C intron_variant MELA-AU 3 176842884 176842884 single base substitution T G intron_variant MELA-AU 3 176844043 176844043 single base substitution C T intron_variant MELA-AU 3 176844206 176844206 single base substitution A G intron_variant MELA-AU 3 176845282 176845282 single base substitution G A intron_variant MELA-AU 3 176845758 176845758 single base substitution G A intron_variant MELA-AU 3 176845828 176845828 single base substitution G A intron_variant MELA-AU 3 176845868 176845868 single base substitution G A intron_variant MELA-AU 3 176847212 176847212 single base substitution G A intron_variant MELA-AU 3 176847489 176847489 single base substitution A T intron_variant MELA-AU 3 176848670 176848671 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176850287 176850287 single base substitution C T intron_variant MELA-AU 3 176850850 176850850 single base substitution G A intron_variant MELA-AU 3 176851508 176851508 single base substitution G A intron_variant MELA-AU 3 176851841 176851841 single base substitution C T intron_variant MELA-AU 3 176852589 176852593 deletion of <=200bp ATAAC - intron_variant MELA-AU 3 176852773 176852773 single base substitution G C intron_variant MELA-AU 3 176852879 176852879 single base substitution C T intron_variant MELA-AU 3 176853601 176853601 single base substitution G A intron_variant MELA-AU 3 176853821 176853821 single base substitution G T intron_variant MELA-AU 3 176853837 176853837 single base substitution G A intron_variant MELA-AU 3 176854516 176854516 single base substitution C T intron_variant MELA-AU 3 176855448 176855448 single base substitution A T intron_variant MELA-AU 3 176856086 176856086 single base substitution T A intron_variant MELA-AU 3 176856246 176856246 single base substitution G T intron_variant MELA-AU 3 176856403 176856403 single base substitution G A intron_variant MELA-AU 3 176856563 176856563 single base substitution G A intron_variant MELA-AU 3 176856662 176856662 single base substitution G A intron_variant MELA-AU 3 176856756 176856756 single base substitution A T intron_variant MELA-AU 3 176856854 176856854 deletion of <=200bp A - intron_variant MELA-AU 3 176857469 176857469 single base substitution G A intron_variant MELA-AU 3 176858867 176858867 single base substitution A G intron_variant MELA-AU 3 176859140 176859140 single base substitution G A intron_variant MELA-AU 3 176859362 176859364 deletion of <=200bp AAC - intron_variant MELA-AU 3 176860198 176860198 single base substitution A G intron_variant MELA-AU 3 176860224 176860224 single base substitution G A intron_variant MELA-AU 3 176860543 176860543 single base substitution G A intron_variant MELA-AU 3 176860743 176860743 single base substitution G A intron_variant MELA-AU 3 176861181 176861181 single base substitution G A intron_variant MELA-AU 3 176862094 176862095 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 3 176862098 176862098 single base substitution A G intron_variant MELA-AU 3 176862268 176862268 single base substitution G A intron_variant MELA-AU 3 176863387 176863387 single base substitution A G intron_variant MELA-AU 3 176864764 176864764 single base substitution A C intron_variant MELA-AU 3 176865460 176865460 single base substitution A T intron_variant MELA-AU 3 176865535 176865535 single base substitution T A intron_variant MELA-AU 3 176866300 176866300 single base substitution G A intron_variant MELA-AU 3 176866372 176866372 single base substitution G A intron_variant MELA-AU 3 176866768 176866768 single base substitution G A intron_variant MELA-AU 3 176867515 176867515 single base substitution G A intron_variant MELA-AU 3 176868733 176868733 single base substitution T C intron_variant MELA-AU 3 176868796 176868796 single base substitution T C intron_variant MELA-AU 3 176869633 176869633 single base substitution G A intron_variant MELA-AU 3 176869667 176869667 single base substitution C T intron_variant MELA-AU 3 176869858 176869858 single base substitution A G intron_variant MELA-AU 3 176871460 176871460 single base substitution G A intron_variant MELA-AU 3 176874040 176874040 single base substitution G A intron_variant MELA-AU 3 176874060 176874060 single base substitution G A intron_variant MELA-AU 3 176874125 176874125 single base substitution G A intron_variant MELA-AU 3 176874306 176874306 single base substitution T C intron_variant MELA-AU 3 176874612 176874612 single base substitution G A intron_variant MELA-AU 3 176876206 176876206 single base substitution G A intron_variant MELA-AU 3 176876306 176876306 single base substitution C T intron_variant MELA-AU 3 176876527 176876527 single base substitution G A intron_variant MELA-AU 3 176876662 176876662 single base substitution C T intron_variant MELA-AU 3 176876747 176876747 single base substitution A T intron_variant MELA-AU 3 176878082 176878082 single base substitution G A intron_variant MELA-AU 3 176878141 176878141 single base substitution A G intron_variant MELA-AU 3 176878183 176878183 single base substitution A C intron_variant MELA-AU 3 176878279 176878279 single base substitution T G intron_variant MELA-AU 3 176878713 176878713 single base substitution G A 5_prime_UTR_variant MELA-AU 3 176878713 176878713 single base substitution G A intron_variant MELA-AU 3 176878837 176878837 single base substitution A T intron_variant MELA-AU 3 176880438 176880438 single base substitution C T intron_variant MELA-AU 3 176881066 176881066 single base substitution G A intron_variant MELA-AU 3 176881797 176881797 single base substitution G A intron_variant MELA-AU 3 176881802 176881802 single base substitution T C intron_variant MELA-AU 3 176882103 176882103 single base substitution G A intron_variant MELA-AU 3 176882141 176882141 single base substitution T A intron_variant MELA-AU 3 176882945 176882945 single base substitution G A intron_variant MELA-AU 3 176883744 176883745 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176883877 176883877 deletion of <=200bp A - intron_variant MELA-AU 3 176884820 176884820 deletion of <=200bp A - intron_variant MELA-AU 3 176887018 176887018 single base substitution G A intron_variant MELA-AU 3 176887437 176887437 single base substitution G A intron_variant MELA-AU 3 176888004 176888004 single base substitution A G intron_variant MELA-AU 3 176888290 176888290 single base substitution T C intron_variant MELA-AU 3 176888587 176888587 single base substitution C A intron_variant MELA-AU 3 176888888 176888888 single base substitution G A intron_variant MELA-AU 3 176889712 176889712 single base substitution G A intron_variant MELA-AU 3 176889773 176889773 single base substitution G A intron_variant MELA-AU 3 176890168 176890168 single base substitution G A intron_variant MELA-AU 3 176890248 176890248 single base substitution G A intron_variant MELA-AU 3 176891476 176891476 single base substitution G C intron_variant MELA-AU 3 176893100 176893100 single base substitution G A intron_variant MELA-AU 3 176893498 176893498 single base substitution A C intron_variant MELA-AU 3 176893911 176893911 single base substitution G A intron_variant MELA-AU 3 176893914 176893914 single base substitution A C intron_variant MELA-AU 3 176895576 176895576 single base substitution G A intron_variant MELA-AU 3 176896078 176896078 single base substitution G A intron_variant MELA-AU 3 176896543 176896544 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 176896735 176896735 single base substitution G A intron_variant MELA-AU 3 176896913 176896913 single base substitution A C intron_variant MELA-AU 3 176898006 176898006 single base substitution G A intron_variant MELA-AU 3 176898007 176898007 single base substitution G A intron_variant MELA-AU 3 176898125 176898126 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 176898660 176898660 single base substitution G A intron_variant MELA-AU 3 176899417 176899417 single base substitution A C intron_variant MELA-AU 3 176901323 176901323 single base substitution G A intron_variant MELA-AU 3 176902075 176902075 single base substitution C A intron_variant MELA-AU 3 176902339 176902339 single base substitution C T intron_variant MELA-AU 3 176903322 176903322 single base substitution G A intron_variant MELA-AU 3 176904280 176904280 single base substitution T A intron_variant MELA-AU 3 176904493 176904493 single base substitution G A intron_variant MELA-AU 3 176905199 176905199 single base substitution A G intron_variant MELA-AU 3 176905940 176905940 single base substitution G A intron_variant MELA-AU 3 176906719 176906719 single base substitution G A intron_variant MELA-AU 3 176907072 176907072 single base substitution G A intron_variant MELA-AU 3 176908015 176908015 single base substitution A G intron_variant MELA-AU 3 176908276 176908276 single base substitution T G intron_variant MELA-AU 3 176908660 176908660 single base substitution C A intron_variant MELA-AU 3 176908841 176908841 single base substitution A C intron_variant MELA-AU 3 176908987 176908987 single base substitution C G intron_variant MELA-AU 3 176909469 176909469 single base substitution G A intron_variant MELA-AU 3 176909788 176909788 single base substitution G A intron_variant MELA-AU 3 176910874 176910874 single base substitution G A intron_variant MELA-AU 3 176910928 176910928 single base substitution G A intron_variant MELA-AU 3 176911367 176911367 single base substitution G A intron_variant MELA-AU 3 176911545 176911545 single base substitution G A intron_variant MELA-AU 3 176911911 176911911 single base substitution C T intron_variant MELA-AU 3 176912889 176912889 single base substitution G A intron_variant MELA-AU 3 176913995 176913995 single base substitution C T intron_variant MELA-AU 3 176916824 176916824 single base substitution C T upstream_gene_variant MELA-AU 3 176917125 176917125 single base substitution G A upstream_gene_variant MELA-AU 3 176917691 176917691 single base substitution C T upstream_gene_variant MELA-AU 3 176918165 176918165 single base substitution C T upstream_gene_variant MELA-AU 3 176918788 176918788 single base substitution C T upstream_gene_variant MELA-AU 3 176918852 176918852 single base substitution C T upstream_gene_variant MELA-AU 3 176918927 176918927 single base substitution G A upstream_gene_variant MELA-AU 3 176919310 176919310 single base substitution C T upstream_gene_variant MELA-AU 3 176919491 176919491 single base substitution C T upstream_gene_variant ORCA-IN 3 176742392 176742392 single base substitution C G 3_prime_UTR_variant ORCA-IN 3 176742392 176742392 single base substitution C G exon_variant ORCA-IN 3 176750547 176750553 deletion of <=200bp AATAATA - intron_variant ORCA-IN 3 176750547 176750553 deletion of <=200bp AATAATA - upstream_gene_variant ORCA-IN 3 176771859 176771859 single base substitution T C intron_variant ORCA-IN 3 176775689 176775689 single base substitution C T intron_variant ORCA-IN 3 176802883 176802883 single base substitution C T intron_variant ORCA-IN 3 176807060 176807060 single base substitution C T intron_variant ORCA-IN 3 176821723 176821723 single base substitution G C intron_variant ORCA-IN 3 176888581 176888581 single base substitution C G intron_variant ORCA-IN 3 176890732 176890732 single base substitution G A intron_variant ORCA-IN 3 176902799 176902799 single base substitution A C intron_variant OV-AU 3 176732536 176732536 single base substitution C T downstream_gene_variant OV-AU 3 176732895 176732895 single base substitution C T downstream_gene_variant OV-AU 3 176733147 176733147 single base substitution G A downstream_gene_variant OV-AU 3 176737820 176737820 single base substitution C G 3_prime_UTR_variant OV-AU 3 176737820 176737820 single base substitution C G downstream_gene_variant OV-AU 3 176743429 176743429 single base substitution A G intron_variant OV-AU 3 176750830 176750830 single base substitution C G missense_variant A449P 1345G>C OV-AU 3 176752657 176752657 single base substitution T C intron_variant OV-AU 3 176755937 176755937 single base substitution C A missense_variant W357C 1071G>T OV-AU 3 176761837 176761837 single base substitution C G intron_variant OV-AU 3 176764581 176764581 single base substitution C A downstream_gene_variant OV-AU 3 176764581 176764581 single base substitution C A intron_variant OV-AU 3 176767545 176767545 single base substitution T G downstream_gene_variant OV-AU 3 176767545 176767545 single base substitution T G intron_variant OV-AU 3 176768275 176768277 deletion of <=200bp AGG - disruptive_inframe_deletion LL183L OV-AU 3 176768275 176768277 deletion of <=200bp AGG - downstream_gene_variant OV-AU 3 176768986 176768986 single base substitution G T downstream_gene_variant OV-AU 3 176768986 176768986 single base substitution G T intron_variant OV-AU 3 176773724 176773724 single base substitution C G intron_variant OV-AU 3 176775630 176775630 single base substitution G T intron_variant OV-AU 3 176784573 176784573 single base substitution A T intron_variant OV-AU 3 176784803 176784803 single base substitution G C intron_variant OV-AU 3 176785294 176785294 single base substitution C T intron_variant OV-AU 3 176785562 176785562 single base substitution T C intron_variant OV-AU 3 176787551 176787551 single base substitution A G intron_variant OV-AU 3 176790274 176790274 single base substitution A T intron_variant OV-AU 3 176792859 176792859 single base substitution A C downstream_gene_variant OV-AU 3 176792859 176792859 single base substitution A C intron_variant OV-AU 3 176795079 176795079 single base substitution A G downstream_gene_variant OV-AU 3 176795079 176795079 single base substitution A G intron_variant OV-AU 3 176799054 176799054 single base substitution A T intron_variant OV-AU 3 176800236 176800236 single base substitution A G intron_variant OV-AU 3 176801308 176801308 single base substitution C A intron_variant OV-AU 3 176814819 176814819 single base substitution A G intron_variant OV-AU 3 176816436 176816436 single base substitution C A intron_variant OV-AU 3 176816436 176816436 single base substitution C A upstream_gene_variant OV-AU 3 176818019 176818019 single base substitution C A intron_variant OV-AU 3 176818019 176818019 single base substitution C A upstream_gene_variant OV-AU 3 176819633 176819633 single base substitution G A intron_variant OV-AU 3 176819633 176819633 single base substitution G A upstream_gene_variant OV-AU 3 176826155 176826155 single base substitution T G intron_variant OV-AU 3 176830971 176830971 single base substitution G T intron_variant OV-AU 3 176833847 176833847 single base substitution T G intron_variant OV-AU 3 176833898 176833898 single base substitution G A intron_variant OV-AU 3 176848818 176848818 single base substitution T A intron_variant OV-AU 3 176849744 176849744 single base substitution A G intron_variant OV-AU 3 176850175 176850175 single base substitution C T intron_variant OV-AU 3 176852210 176852210 single base substitution C G intron_variant OV-AU 3 176852213 176852213 single base substitution A T intron_variant OV-AU 3 176852792 176852792 single base substitution G C intron_variant OV-AU 3 176853998 176853998 single base substitution T C intron_variant OV-AU 3 176859113 176859113 single base substitution A T intron_variant OV-AU 3 176861407 176861407 single base substitution A G intron_variant OV-AU 3 176862892 176862892 single base substitution G T intron_variant OV-AU 3 176864136 176864136 single base substitution G A intron_variant OV-AU 3 176867194 176867194 single base substitution G A intron_variant OV-AU 3 176870355 176870355 single base substitution G A intron_variant OV-AU 3 176872965 176872965 single base substitution A G intron_variant OV-AU 3 176873993 176873993 single base substitution A C intron_variant OV-AU 3 176877329 176877329 single base substitution C A intron_variant OV-AU 3 176886690 176886690 single base substitution G T intron_variant OV-AU 3 176894852 176894852 single base substitution C G intron_variant OV-AU 3 176897896 176897896 single base substitution G T intron_variant OV-AU 3 176900078 176900078 single base substitution G A intron_variant OV-AU 3 176901251 176901251 single base substitution T A intron_variant OV-AU 3 176901321 176901321 single base substitution C T intron_variant OV-AU 3 176904451 176904451 single base substitution T C intron_variant OV-AU 3 176909398 176909398 single base substitution G A intron_variant OV-AU 3 176911133 176911133 single base substitution C A intron_variant OV-AU 3 176911962 176911962 single base substitution C A intron_variant OV-AU 3 176913009 176913009 single base substitution G T intron_variant OV-AU 3 176917830 176917830 single base substitution G A upstream_gene_variant OV-AU 3 176918272 176918272 single base substitution G T upstream_gene_variant PACA-AU 3 176734381 176734381 deletion of <=200bp C - downstream_gene_variant PACA-AU 3 176734808 176734808 deletion of <=200bp A - downstream_gene_variant PACA-AU 3 176737016 176737016 single base substitution T A downstream_gene_variant PACA-AU 3 176742332 176742332 single base substitution A G 3_prime_UTR_variant PACA-AU 3 176742332 176742332 single base substitution A G exon_variant PACA-AU 3 176745405 176745405 single base substitution T A exon_variant PACA-AU 3 176745405 176745405 single base substitution T A intron_variant PACA-AU 3 176746058 176746073 deletion of <=200bp TTCACTGTTTTACTAT - intron_variant PACA-AU 3 176746058 176746073 deletion of <=200bp TTCACTGTTTTACTAT - upstream_gene_variant PACA-AU 3 176751466 176751505 deletion of <=200bp GTAAGTGCCCATCAGCTAACAAGTGGATAAAGAAAATGTG - intron_variant PACA-AU 3 176754376 176754390 deletion of <=200bp TTCCAGAAGAAGTTT - intron_variant PACA-AU 3 176757968 176757968 single base substitution T C intron_variant PACA-AU 3 176759350 176759350 single base substitution C T intron_variant PACA-AU 3 176766513 176766513 single base substitution A G downstream_gene_variant PACA-AU 3 176766513 176766513 single base substitution A G intron_variant PACA-AU 3 176768225 176768225 single base substitution G A downstream_gene_variant PACA-AU 3 176768225 176768225 single base substitution G A intron_variant PACA-AU 3 176770671 176770671 single base substitution T G downstream_gene_variant PACA-AU 3 176770671 176770671 single base substitution T G intron_variant PACA-AU 3 176781541 176781541 single base substitution T G intron_variant PACA-AU 3 176782461 176782461 single base substitution G A intron_variant PACA-AU 3 176783950 176783950 single base substitution A T intron_variant PACA-AU 3 176787349 176787349 single base substitution C A intron_variant PACA-AU 3 176787350 176787350 single base substitution C T intron_variant PACA-AU 3 176794974 176794974 single base substitution T C downstream_gene_variant PACA-AU 3 176794974 176794974 single base substitution T C intron_variant PACA-AU 3 176810381 176810381 single base substitution C T intron_variant PACA-AU 3 176815482 176815482 single base substitution C T intron_variant PACA-AU 3 176818829 176818829 single base substitution A G intron_variant PACA-AU 3 176818829 176818829 single base substitution A G upstream_gene_variant PACA-AU 3 176819454 176819454 single base substitution G A intron_variant PACA-AU 3 176819454 176819454 single base substitution G A upstream_gene_variant PACA-AU 3 176819523 176819523 single base substitution C G intron_variant PACA-AU 3 176819523 176819523 single base substitution C G upstream_gene_variant PACA-AU 3 176826814 176826814 single base substitution T C intron_variant PACA-AU 3 176832142 176832142 single base substitution A T intron_variant PACA-AU 3 176832454 176832454 single base substitution A T intron_variant PACA-AU 3 176834216 176834221 deletion of <=200bp TGTTTT - intron_variant PACA-AU 3 176840879 176840890 deletion of <=200bp AGAAATCTGCAG - intron_variant PACA-AU 3 176841910 176841910 single base substitution G T intron_variant PACA-AU 3 176846966 176846966 single base substitution T A intron_variant PACA-AU 3 176850730 176850730 single base substitution C A intron_variant PACA-AU 3 176861113 176861113 single base substitution G C intron_variant PACA-AU 3 176862550 176862550 single base substitution G A intron_variant PACA-AU 3 176862886 176862886 single base substitution G C intron_variant PACA-AU 3 176864051 176864068 deletion of <=200bp TCAGTTTTCTGGCTTTCA - intron_variant PACA-AU 3 176865676 176865676 single base substitution A G intron_variant PACA-AU 3 176873238 176873238 single base substitution T A intron_variant PACA-AU 3 176875224 176875224 single base substitution G T intron_variant PACA-AU 3 176877260 176877260 single base substitution C G intron_variant PACA-AU 3 176878794 176878794 single base substitution A T intron_variant PACA-AU 3 176882750 176882750 single base substitution T A intron_variant PACA-AU 3 176888750 176888750 single base substitution C T intron_variant PACA-AU 3 176890422 176890422 insertion of <=200bp - AGAGAGAGAG intron_variant PACA-AU 3 176893616 176893616 single base substitution G A intron_variant PACA-AU 3 176896394 176896409 deletion of <=200bp GGATGCCCAGGCAGGC - intron_variant PACA-AU 3 176904165 176904165 single base substitution A C intron_variant PACA-AU 3 176906677 176906677 deletion of <=200bp A - intron_variant PACA-AU 3 176909957 176909957 single base substitution G A intron_variant PACA-AU 3 176911100 176911103 deletion of <=200bp TTTG - intron_variant PACA-AU 3 176911341 176911341 single base substitution C A intron_variant PACA-AU 3 176912087 176912087 deletion of <=200bp T - intron_variant PACA-AU 3 176912367 176912367 single base substitution A G intron_variant PACA-AU 3 176913059 176913059 single base substitution C T intron_variant PACA-AU 3 176918507 176918507 single base substitution T C upstream_gene_variant PACA-AU 3 176919901 176919901 single base substitution T A upstream_gene_variant PACA-CA 3 176733318 176733318 single base substitution G A downstream_gene_variant PACA-CA 3 176734381 176734381 deletion of <=200bp C - downstream_gene_variant PACA-CA 3 176737764 176737764 single base substitution G A 3_prime_UTR_variant PACA-CA 3 176737764 176737764 single base substitution G A downstream_gene_variant PACA-CA 3 176738080 176738080 single base substitution C G 3_prime_UTR_variant PACA-CA 3 176738080 176738080 single base substitution C G downstream_gene_variant PACA-CA 3 176739347 176739347 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 3 176739347 176739347 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 176739347 176739347 insertion of <=200bp - A exon_variant PACA-CA 3 176741335 176741335 single base substitution A G 3_prime_UTR_variant PACA-CA 3 176741335 176741335 single base substitution A G exon_variant PACA-CA 3 176742598 176742598 single base substitution A C 3_prime_UTR_variant PACA-CA 3 176742598 176742598 single base substitution A C exon_variant PACA-CA 3 176747908 176747908 single base substitution G A intron_variant PACA-CA 3 176747908 176747908 single base substitution G A upstream_gene_variant PACA-CA 3 176747910 176747910 single base substitution A G intron_variant PACA-CA 3 176747910 176747910 single base substitution A G upstream_gene_variant PACA-CA 3 176748331 176748331 single base substitution G A intron_variant PACA-CA 3 176748331 176748331 single base substitution G A upstream_gene_variant PACA-CA 3 176751064 176751064 single base substitution G A intron_variant PACA-CA 3 176752193 176752193 single base substitution A C intron_variant PACA-CA 3 176753621 176753621 single base substitution C A intron_variant PACA-CA 3 176757320 176757320 single base substitution T A intron_variant PACA-CA 3 176757646 176757647 deletion of <=200bp CC - intron_variant PACA-CA 3 176758437 176758437 single base substitution A T intron_variant PACA-CA 3 176758541 176758541 single base substitution G C intron_variant PACA-CA 3 176762939 176762955 deletion of <=200bp CCTGAAGTTGCAAATTT - intron_variant PACA-CA 3 176765023 176765023 single base substitution C T downstream_gene_variant PACA-CA 3 176765023 176765023 single base substitution C T intron_variant PACA-CA 3 176765921 176765921 single base substitution G C downstream_gene_variant PACA-CA 3 176765921 176765921 single base substitution G C intron_variant PACA-CA 3 176768691 176768691 single base substitution A G downstream_gene_variant PACA-CA 3 176768691 176768691 single base substitution A G intron_variant PACA-CA 3 176768741 176768741 single base substitution T C downstream_gene_variant PACA-CA 3 176768741 176768741 single base substitution T C intron_variant PACA-CA 3 176769388 176769388 single base substitution C A downstream_gene_variant PACA-CA 3 176769388 176769388 single base substitution C A missense_variant A111S 331G>T PACA-CA 3 176769388 176769388 single base substitution C A missense_variant A24S 70G>T PACA-CA 3 176769627 176769627 single base substitution T A downstream_gene_variant PACA-CA 3 176769627 176769627 single base substitution T A intron_variant PACA-CA 3 176771406 176771406 single base substitution C T downstream_gene_variant PACA-CA 3 176771406 176771406 single base substitution C T intron_variant PACA-CA 3 176776048 176776048 single base substitution A G intron_variant PACA-CA 3 176776191 176776191 single base substitution G A intron_variant PACA-CA 3 176777392 176777392 deletion of <=200bp A - intron_variant PACA-CA 3 176780693 176780693 single base substitution C T intron_variant PACA-CA 3 176780896 176780896 single base substitution C G intron_variant PACA-CA 3 176781405 176781405 insertion of <=200bp - T intron_variant PACA-CA 3 176783361 176783361 single base substitution A G intron_variant PACA-CA 3 176786221 176786221 single base substitution C T intron_variant PACA-CA 3 176787383 176787383 single base substitution C A intron_variant PACA-CA 3 176789390 176789390 single base substitution T A intron_variant PACA-CA 3 176792041 176792041 single base substitution A G intron_variant PACA-CA 3 176801311 176801311 insertion of <=200bp - A intron_variant PACA-CA 3 176802344 176802344 single base substitution T C intron_variant PACA-CA 3 176805143 176805143 single base substitution G C intron_variant PACA-CA 3 176805494 176805494 single base substitution A T intron_variant PACA-CA 3 176815602 176815621 deletion of <=200bp ACAAAATTTAGTTCATTTGA - intron_variant PACA-CA 3 176816011 176816011 insertion of <=200bp - AAAAG intron_variant PACA-CA 3 176816635 176816635 single base substitution G A intron_variant PACA-CA 3 176816635 176816635 single base substitution G A upstream_gene_variant PACA-CA 3 176816930 176816930 single base substitution G A intron_variant PACA-CA 3 176816930 176816930 single base substitution G A upstream_gene_variant PACA-CA 3 176818386 176818386 single base substitution T C intron_variant PACA-CA 3 176818386 176818386 single base substitution T C upstream_gene_variant PACA-CA 3 176819369 176819369 single base substitution G A intron_variant PACA-CA 3 176819369 176819369 single base substitution G A upstream_gene_variant PACA-CA 3 176823176 176823176 single base substitution C G intron_variant PACA-CA 3 176824135 176824135 single base substitution G A intron_variant PACA-CA 3 176825987 176825990 deletion of <=200bp ACTT - intron_variant PACA-CA 3 176826899 176826899 single base substitution A G intron_variant PACA-CA 3 176828548 176828548 single base substitution C T intron_variant PACA-CA 3 176836302 176836302 single base substitution C A intron_variant PACA-CA 3 176840529 176840529 single base substitution A G intron_variant PACA-CA 3 176843664 176843664 single base substitution A G intron_variant PACA-CA 3 176845506 176845506 single base substitution A G intron_variant PACA-CA 3 176846900 176846900 single base substitution A G intron_variant PACA-CA 3 176851035 176851035 single base substitution A G intron_variant PACA-CA 3 176852456 176852456 insertion of <=200bp - A intron_variant PACA-CA 3 176863261 176863261 single base substitution C T intron_variant PACA-CA 3 176867246 176867246 single base substitution A G intron_variant PACA-CA 3 176868709 176868709 single base substitution C T intron_variant PACA-CA 3 176870976 176870976 single base substitution T C intron_variant PACA-CA 3 176873567 176873567 single base substitution G C intron_variant PACA-CA 3 176881003 176881003 deletion of <=200bp A - intron_variant PACA-CA 3 176883654 176883654 single base substitution G C intron_variant PACA-CA 3 176885283 176885283 single base substitution T G intron_variant PACA-CA 3 176886731 176886731 single base substitution A G intron_variant PACA-CA 3 176886970 176886970 single base substitution T C intron_variant PACA-CA 3 176888132 176888132 single base substitution C T intron_variant PACA-CA 3 176890074 176890074 single base substitution A G intron_variant PACA-CA 3 176891476 176891476 insertion of <=200bp - A intron_variant PACA-CA 3 176895343 176895343 single base substitution T C intron_variant PACA-CA 3 176895913 176895913 single base substitution G T intron_variant PACA-CA 3 176896544 176896544 single base substitution C A intron_variant PACA-CA 3 176896545 176896545 single base substitution A G intron_variant PACA-CA 3 176897805 176897805 single base substitution T C intron_variant PACA-CA 3 176898818 176898818 single base substitution G T intron_variant PACA-CA 3 176904156 176904156 deletion of <=200bp T - intron_variant PACA-CA 3 176904720 176904720 single base substitution C T intron_variant PACA-CA 3 176905800 176905800 single base substitution C G intron_variant PACA-CA 3 176906187 176906187 single base substitution T C intron_variant PACA-CA 3 176907053 176907053 single base substitution C T intron_variant PACA-CA 3 176908754 176908754 single base substitution G C intron_variant PACA-CA 3 176910043 176910043 single base substitution G A intron_variant PACA-CA 3 176910197 176910197 single base substitution A G intron_variant PACA-CA 3 176910375 176910375 deletion of <=200bp A - intron_variant PACA-CA 3 176911982 176911982 single base substitution A G intron_variant PACA-CA 3 176913475 176913475 single base substitution A G intron_variant PACA-CA 3 176916231 176916231 single base substitution T G upstream_gene_variant PAEN-AU 3 176738629 176738631 deletion of <=200bp CAA - 3_prime_UTR_variant PAEN-AU 3 176738629 176738631 deletion of <=200bp CAA - downstream_gene_variant PAEN-AU 3 176738629 176738631 deletion of <=200bp CAA - exon_variant PAEN-AU 3 176768619 176768619 single base substitution T G downstream_gene_variant PAEN-AU 3 176768619 176768619 single base substitution T G intron_variant PAEN-AU 3 176842688 176842688 single base substitution C A intron_variant PAEN-AU 3 176857977 176857977 single base substitution C A intron_variant PAEN-IT 3 176748868 176748868 single base substitution C A intron_variant PAEN-IT 3 176748868 176748868 single base substitution C A upstream_gene_variant PAEN-IT 3 176788668 176788668 single base substitution A G intron_variant PAEN-IT 3 176794154 176794154 single base substitution C T downstream_gene_variant PAEN-IT 3 176794154 176794154 single base substitution C T intron_variant PAEN-IT 3 176805521 176805521 single base substitution G C intron_variant PAEN-IT 3 176818830 176818830 single base substitution G T intron_variant PAEN-IT 3 176818830 176818830 single base substitution G T upstream_gene_variant PAEN-IT 3 176831162 176831162 single base substitution G A intron_variant PAEN-IT 3 176856004 176856004 single base substitution A G intron_variant PBCA-DE 3 176737466 176737466 single base substitution T C 3_prime_UTR_variant PBCA-DE 3 176737466 176737466 single base substitution T C downstream_gene_variant PBCA-DE 3 176738054 176738054 single base substitution C A 3_prime_UTR_variant PBCA-DE 3 176738054 176738054 single base substitution C A downstream_gene_variant PBCA-DE 3 176739348 176739348 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 3 176739348 176739348 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 176739348 176739348 insertion of <=200bp - A exon_variant PBCA-DE 3 176746908 176746908 deletion of <=200bp A - intron_variant PBCA-DE 3 176746908 176746908 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 176748854 176748854 single base substitution C T intron_variant PBCA-DE 3 176748854 176748854 single base substitution C T upstream_gene_variant PBCA-DE 3 176752108 176752108 single base substitution C A missense_variant W376C 1128G>T PBCA-DE 3 176754728 176754728 single base substitution G T intron_variant PBCA-DE 3 176755561 176755561 insertion of <=200bp - CATCCATCCATC intron_variant PBCA-DE 3 176768890 176768890 single base substitution A T downstream_gene_variant PBCA-DE 3 176768890 176768890 single base substitution A T intron_variant PBCA-DE 3 176793252 176793252 single base substitution C A downstream_gene_variant PBCA-DE 3 176793252 176793252 single base substitution C A intron_variant PBCA-DE 3 176793762 176793762 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 176793762 176793762 insertion of <=200bp - A intron_variant PBCA-DE 3 176796212 176796212 single base substitution T A downstream_gene_variant PBCA-DE 3 176796212 176796212 single base substitution T A intron_variant PBCA-DE 3 176800155 176800155 insertion of <=200bp - A intron_variant PBCA-DE 3 176801312 176801312 deletion of <=200bp A - intron_variant PBCA-DE 3 176801961 176801961 single base substitution G A intron_variant PBCA-DE 3 176806158 176806159 deletion of <=200bp TA - intron_variant PBCA-DE 3 176809052 176809052 single base substitution C T intron_variant PBCA-DE 3 176814670 176814670 single base substitution C A intron_variant PBCA-DE 3 176825349 176825349 single base substitution T A intron_variant PBCA-DE 3 176831151 176831151 single base substitution A C intron_variant PBCA-DE 3 176832063 176832064 deletion of <=200bp AC - intron_variant PBCA-DE 3 176847054 176847054 single base substitution T A intron_variant PBCA-DE 3 176856503 176856503 single base substitution T G intron_variant PBCA-DE 3 176857367 176857367 single base substitution A C intron_variant PBCA-DE 3 176860836 176860836 single base substitution G C intron_variant PBCA-DE 3 176867425 176867425 single base substitution G T intron_variant PRAD-CA 3 176736146 176736146 single base substitution G A downstream_gene_variant PRAD-CA 3 176747921 176747921 single base substitution G T intron_variant PRAD-CA 3 176747921 176747921 single base substitution G T upstream_gene_variant PRAD-CA 3 176787551 176787551 single base substitution A G intron_variant PRAD-CA 3 176789148 176789148 single base substitution A C intron_variant PRAD-CA 3 176810491 176810491 single base substitution A G intron_variant PRAD-CA 3 176820039 176820039 single base substitution T C intron_variant PRAD-CA 3 176820039 176820039 single base substitution T C upstream_gene_variant PRAD-CA 3 176860970 176860970 single base substitution A G intron_variant PRAD-CA 3 176908480 176908480 single base substitution T G intron_variant PRAD-CA 3 176913399 176913399 single base substitution G C intron_variant PRAD-CA 3 176918249 176918249 single base substitution A G upstream_gene_variant PRAD-UK 3 176740364 176740364 single base substitution C T 3_prime_UTR_variant PRAD-UK 3 176740364 176740364 single base substitution C T downstream_gene_variant PRAD-UK 3 176740364 176740364 single base substitution C T exon_variant PRAD-UK 3 176748059 176748069 deletion of <=200bp TAATATATTCA - intron_variant PRAD-UK 3 176748059 176748069 deletion of <=200bp TAATATATTCA - upstream_gene_variant PRAD-UK 3 176755884 176755884 single base substitution A T splice_donor_variant PRAD-UK 3 176756917 176756917 deletion of <=200bp A - intron_variant PRAD-UK 3 176759395 176759395 single base substitution A G intron_variant PRAD-UK 3 176768265 176768265 deletion of <=200bp C - downstream_gene_variant PRAD-UK 3 176768265 176768265 deletion of <=200bp C - splice_donor_variant PRAD-UK 3 176775411 176775411 single base substitution T A intron_variant PRAD-UK 3 176782763 176782763 single base substitution C A intron_variant PRAD-UK 3 176782763 176782763 single base substitution C A start_lost M1I 3G>T PRAD-UK 3 176784647 176784647 single base substitution G A intron_variant PRAD-UK 3 176785541 176785541 single base substitution A C intron_variant PRAD-UK 3 176787359 176787359 insertion of <=200bp - A intron_variant PRAD-UK 3 176822900 176822900 single base substitution G T intron_variant PRAD-UK 3 176834125 176834125 single base substitution A G intron_variant PRAD-UK 3 176843486 176843486 single base substitution T A intron_variant PRAD-UK 3 176845781 176845781 deletion of <=200bp C - intron_variant PRAD-UK 3 176862520 176862520 single base substitution G A intron_variant PRAD-UK 3 176909748 176909748 single base substitution A C intron_variant PRAD-UK 3 176917670 176917670 single base substitution C G upstream_gene_variant PRAD-US 3 176755961 176755961 single base substitution C G splice_acceptor_variant PRAD-US 3 176768285 176768285 insertion of <=200bp - A downstream_gene_variant PRAD-US 3 176768285 176768285 insertion of <=200bp - A frameshift_variant S181M? READ-US 3 176752059 176752059 single base substitution C A stop_gained E393* 1177G>T RECA-EU 3 176749922 176749922 single base substitution C T intron_variant RECA-EU 3 176749922 176749922 single base substitution C T upstream_gene_variant RECA-EU 3 176755549 176755549 single base substitution C T intron_variant RECA-EU 3 176758031 176758031 single base substitution A G intron_variant RECA-EU 3 176762396 176762396 single base substitution T A intron_variant RECA-EU 3 176762564 176762564 single base substitution T C intron_variant RECA-EU 3 176789431 176789431 single base substitution G A intron_variant RECA-EU 3 176792348 176792348 single base substitution T C downstream_gene_variant RECA-EU 3 176792348 176792348 single base substitution T C intron_variant RECA-EU 3 176794496 176794496 single base substitution T G downstream_gene_variant RECA-EU 3 176794496 176794496 single base substitution T G intron_variant RECA-EU 3 176797510 176797510 single base substitution T C exon_variant RECA-EU 3 176797510 176797510 single base substitution T C intron_variant RECA-EU 3 176807973 176807973 single base substitution G T intron_variant RECA-EU 3 176816295 176816295 single base substitution C T 5_prime_UTR_variant RECA-EU 3 176816295 176816295 single base substitution C T exon_variant RECA-EU 3 176816295 176816295 single base substitution C T intron_variant RECA-EU 3 176834468 176834468 single base substitution A C intron_variant RECA-EU 3 176834475 176834475 single base substitution G A intron_variant RECA-EU 3 176834690 176834690 single base substitution G T intron_variant RECA-EU 3 176835636 176835636 single base substitution G C intron_variant RECA-EU 3 176852767 176852767 single base substitution C G intron_variant RECA-EU 3 176853419 176853419 single base substitution C T intron_variant RECA-EU 3 176870665 176870665 single base substitution T C intron_variant RECA-EU 3 176875818 176875818 single base substitution C T intron_variant RECA-EU 3 176878051 176878051 single base substitution A G intron_variant RECA-EU 3 176879772 176879772 single base substitution C A intron_variant RECA-EU 3 176889601 176889601 single base substitution G C intron_variant RECA-EU 3 176891818 176891818 single base substitution T A intron_variant RECA-EU 3 176901696 176901696 single base substitution G C intron_variant RECA-EU 3 176901697 176901697 single base substitution C T intron_variant RECA-EU 3 176909232 176909232 single base substitution T C intron_variant RECA-EU 3 176912915 176912915 single base substitution A G intron_variant SKCA-BR 3 176733728 176733728 single base substitution A C downstream_gene_variant SKCA-BR 3 176734155 176734155 single base substitution G A downstream_gene_variant SKCA-BR 3 176735411 176735411 single base substitution G T downstream_gene_variant SKCA-BR 3 176735852 176735852 single base substitution A C downstream_gene_variant SKCA-BR 3 176742814 176742832 deletion of <=200bp TAAAGCAAGAACAAACTAC - 3_prime_UTR_variant SKCA-BR 3 176742814 176742832 deletion of <=200bp TAAAGCAAGAACAAACTAC - exon_variant SKCA-BR 3 176743740 176743740 single base substitution C T intron_variant SKCA-BR 3 176749128 176749128 insertion of <=200bp - AT intron_variant SKCA-BR 3 176749128 176749128 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 3 176750426 176750426 single base substitution C T intron_variant SKCA-BR 3 176750426 176750426 single base substitution C T upstream_gene_variant SKCA-BR 3 176751720 176751720 single base substitution G A intron_variant SKCA-BR 3 176762082 176762082 single base substitution A G intron_variant SKCA-BR 3 176762945 176762945 single base substitution G A intron_variant SKCA-BR 3 176764516 176764516 single base substitution A T downstream_gene_variant SKCA-BR 3 176764516 176764516 single base substitution A T intron_variant SKCA-BR 3 176764560 176764560 single base substitution T A downstream_gene_variant SKCA-BR 3 176764560 176764560 single base substitution T A intron_variant SKCA-BR 3 176766043 176766043 single base substitution C T downstream_gene_variant SKCA-BR 3 176766043 176766043 single base substitution C T intron_variant SKCA-BR 3 176767727 176767727 single base substitution G A downstream_gene_variant SKCA-BR 3 176767727 176767727 single base substitution G A intron_variant SKCA-BR 3 176767767 176767767 single base substitution G A downstream_gene_variant SKCA-BR 3 176767767 176767767 single base substitution G A intron_variant SKCA-BR 3 176770709 176770709 single base substitution G A downstream_gene_variant SKCA-BR 3 176770709 176770709 single base substitution G A intron_variant SKCA-BR 3 176775440 176775440 single base substitution G A intron_variant SKCA-BR 3 176782794 176782820 deletion of <=200bp CAACACAGGATATAACCCTAAAAATAA - intron_variant SKCA-BR 3 176782794 176782820 deletion of <=200bp CAACACAGGATATAACCCTAAAAATAA - splice_acceptor_variant SKCA-BR 3 176785609 176785609 single base substitution T G intron_variant SKCA-BR 3 176785705 176785705 single base substitution A G intron_variant SKCA-BR 3 176787570 176787571 deletion of <=200bp GA - intron_variant SKCA-BR 3 176787588 176787588 insertion of <=200bp - GA intron_variant SKCA-BR 3 176789223 176789223 single base substitution G A intron_variant SKCA-BR 3 176790629 176790629 single base substitution A G intron_variant SKCA-BR 3 176795824 176795824 single base substitution G A downstream_gene_variant SKCA-BR 3 176795824 176795824 single base substitution G A intron_variant SKCA-BR 3 176796182 176796182 single base substitution G A downstream_gene_variant SKCA-BR 3 176796182 176796182 single base substitution G A intron_variant SKCA-BR 3 176796923 176796923 single base substitution C T downstream_gene_variant SKCA-BR 3 176796923 176796923 single base substitution C T intron_variant SKCA-BR 3 176797592 176797592 insertion of <=200bp - TA exon_variant SKCA-BR 3 176797592 176797592 insertion of <=200bp - TA intron_variant SKCA-BR 3 176799075 176799075 single base substitution G A intron_variant SKCA-BR 3 176799737 176799737 single base substitution G A intron_variant SKCA-BR 3 176800526 176800526 insertion of <=200bp - TTTTATATATATATATATATATA intron_variant SKCA-BR 3 176800528 176800528 single base substitution A T intron_variant SKCA-BR 3 176801891 176801891 single base substitution G A intron_variant SKCA-BR 3 176801898 176801898 single base substitution G A intron_variant SKCA-BR 3 176801908 176801908 single base substitution G A intron_variant SKCA-BR 3 176801967 176801967 single base substitution A C intron_variant SKCA-BR 3 176806468 176806468 single base substitution T C intron_variant SKCA-BR 3 176806900 176806900 single base substitution A T intron_variant SKCA-BR 3 176808982 176808982 single base substitution A G intron_variant SKCA-BR 3 176809393 176809393 single base substitution G A intron_variant SKCA-BR 3 176813283 176813283 insertion of <=200bp - ATT intron_variant SKCA-BR 3 176813971 176813971 single base substitution G A intron_variant SKCA-BR 3 176813973 176813973 single base substitution A T intron_variant SKCA-BR 3 176816011 176816011 insertion of <=200bp - AAAAAG intron_variant SKCA-BR 3 176820705 176820705 single base substitution A G intron_variant SKCA-BR 3 176820705 176820705 single base substitution A G upstream_gene_variant SKCA-BR 3 176824752 176824752 single base substitution G A intron_variant SKCA-BR 3 176829059 176829059 insertion of <=200bp - AT intron_variant SKCA-BR 3 176836106 176836106 single base substitution T A intron_variant SKCA-BR 3 176836306 176836306 single base substitution G A intron_variant SKCA-BR 3 176842128 176842142 deletion of <=200bp CAACCTTTGTTTTCA - intron_variant SKCA-BR 3 176842777 176842777 single base substitution C T intron_variant SKCA-BR 3 176844603 176844604 deletion of <=200bp CA - intron_variant SKCA-BR 3 176848336 176848336 single base substitution G A intron_variant SKCA-BR 3 176849383 176849383 single base substitution C T intron_variant SKCA-BR 3 176849740 176849740 single base substitution C T intron_variant SKCA-BR 3 176851664 176851664 insertion of <=200bp - CAA intron_variant SKCA-BR 3 176852733 176852733 insertion of <=200bp - CTGTGTG intron_variant SKCA-BR 3 176852733 176852733 insertion of <=200bp - CTGTGTGTGTGTGTGTGTG intron_variant SKCA-BR 3 176853099 176853099 single base substitution G C intron_variant SKCA-BR 3 176853122 176853122 insertion of <=200bp - TATAC intron_variant SKCA-BR 3 176853157 176853171 deletion of <=200bp ATATATATATATATG - intron_variant SKCA-BR 3 176855294 176855294 single base substitution G A intron_variant SKCA-BR 3 176855551 176855551 single base substitution A C intron_variant SKCA-BR 3 176859670 176859672 deletion of <=200bp TTC - intron_variant SKCA-BR 3 176860391 176860391 single base substitution G A intron_variant SKCA-BR 3 176867360 176867360 single base substitution A G intron_variant SKCA-BR 3 176867514 176867514 single base substitution G A intron_variant SKCA-BR 3 176869003 176869003 single base substitution C A intron_variant SKCA-BR 3 176871800 176871800 single base substitution G A intron_variant SKCA-BR 3 176873826 176873826 single base substitution T C intron_variant SKCA-BR 3 176876423 176876423 single base substitution G A intron_variant SKCA-BR 3 176879571 176879572 deletion of <=200bp CA - intron_variant SKCA-BR 3 176880759 176880759 single base substitution G A intron_variant SKCA-BR 3 176882618 176882618 single base substitution G A intron_variant SKCA-BR 3 176885352 176885352 single base substitution G A intron_variant SKCA-BR 3 176886071 176886072 deletion of <=200bp CT - intron_variant SKCA-BR 3 176890421 176890421 insertion of <=200bp - AAGAGAGAGAG intron_variant SKCA-BR 3 176890578 176890578 single base substitution T C intron_variant SKCA-BR 3 176894977 176894977 single base substitution G A intron_variant SKCA-BR 3 176900626 176900626 single base substitution A T intron_variant SKCA-BR 3 176904275 176904275 single base substitution G A intron_variant SKCA-BR 3 176905178 176905179 deletion of <=200bp CA - intron_variant SKCA-BR 3 176905197 176905197 single base substitution G A intron_variant SKCA-BR 3 176905654 176905654 single base substitution A C intron_variant SKCA-BR 3 176907882 176907882 single base substitution T C intron_variant SKCA-BR 3 176907896 176907896 single base substitution G A intron_variant SKCA-BR 3 176907897 176907897 single base substitution G A intron_variant SKCA-BR 3 176909605 176909605 single base substitution G A intron_variant SKCA-BR 3 176910186 176910186 insertion of <=200bp - CAA intron_variant SKCA-BR 3 176914000 176914000 single base substitution A G intron_variant SKCA-BR 3 176914285 176914285 single base substitution G C intron_variant SKCA-BR 3 176914285 176914285 single base substitution G C upstream_gene_variant SKCA-BR 3 176914976 176914976 insertion of <=200bp - TCGC 5_prime_UTR_variant SKCA-BR 3 176914976 176914976 insertion of <=200bp - TCGC upstream_gene_variant SKCA-BR 3 176915844 176915844 single base substitution A G upstream_gene_variant SKCA-BR 3 176917727 176917727 single base substitution G A upstream_gene_variant SKCA-BR 3 176918443 176918443 single base substitution G A upstream_gene_variant SKCA-BR 3 176919306 176919306 single base substitution T G upstream_gene_variant SKCA-BR 3 176919491 176919491 single base substitution C T upstream_gene_variant SKCA-BR 3 176920198 176920198 insertion of <=200bp - TA upstream_gene_variant SKCM-US 3 176768298 176768298 single base substitution G A downstream_gene_variant SKCM-US 3 176768298 176768298 single base substitution G A synonymous_variant A176A 528C>T SKCM-US 3 176769418 176769418 single base substitution C T downstream_gene_variant SKCM-US 3 176769418 176769418 single base substitution C T missense_variant D101N 301G>A SKCM-US 3 176769418 176769418 single base substitution C T missense_variant D14N 40G>A STAD-US 3 176756101 176756101 single base substitution C T splice_region_variant STAD-US 3 176756141 176756141 single base substitution A G missense_variant L336S 1007T>C STAD-US 3 176768322 176768322 single base substitution A G downstream_gene_variant STAD-US 3 176768322 176768322 single base substitution A G synonymous_variant H168H 504T>C STAD-US 3 176769342 176769342 deletion of <=200bp T - downstream_gene_variant STAD-US 3 176769342 176769342 deletion of <=200bp T - frameshift_variant N126 STAD-US 3 176769342 176769342 deletion of <=200bp T - frameshift_variant N39 STAD-US 3 176769374 176769374 single base substitution T G downstream_gene_variant STAD-US 3 176769374 176769374 single base substitution T G synonymous_variant A115A 345A>C STAD-US 3 176769374 176769374 single base substitution T G synonymous_variant A28A 84A>C THCA-SA 3 176738798 176738798 single base substitution T C 3_prime_UTR_variant THCA-SA 3 176738798 176738798 single base substitution T C downstream_gene_variant THCA-SA 3 176738798 176738798 single base substitution T C exon_variant THCA-SA 3 176739663 176739663 single base substitution A G 3_prime_UTR_variant THCA-SA 3 176739663 176739663 single base substitution A G downstream_gene_variant THCA-SA 3 176739663 176739663 single base substitution A G exon_variant THCA-SA 3 176741730 176741730 single base substitution G C 3_prime_UTR_variant THCA-SA 3 176741730 176741730 single base substitution G C exon_variant UCEC-US 3 176744169 176744169 single base substitution C A exon_variant UCEC-US 3 176744169 176744169 single base substitution C A missense_variant D504Y 1510G>T UCEC-US 3 176744217 176744217 single base substitution C T exon_variant UCEC-US 3 176744217 176744217 single base substitution C T missense_variant E488K 1462G>A UCEC-US 3 176744219 176744219 single base substitution A G exon_variant UCEC-US 3 176744219 176744219 single base substitution A G missense_variant F487S 1460T>C UCEC-US 3 176752059 176752059 single base substitution C A stop_gained E393* 1177G>T UCEC-US 3 176756101 176756101 single base substitution C T splice_region_variant UCEC-US 3 176756102 176756102 single base substitution G A missense_variant T349M 1046C>T UCEC-US 3 176756133 176756133 single base substitution C A missense_variant D339Y 1015G>T UCEC-US 3 176765277 176765277 single base substitution C A downstream_gene_variant UCEC-US 3 176765277 176765277 single base substitution C A missense_variant D255Y 763G>T UCEC-US 3 176767841 176767841 single base substitution G A downstream_gene_variant UCEC-US 3 176767841 176767841 single base substitution G A stop_gained R216* 646C>T UCEC-US 3 176767841 176767841 single base substitution G T downstream_gene_variant UCEC-US 3 176767841 176767841 single base substitution G T synonymous_variant R216R 646C>A UCEC-US 3 176768326 176768326 single base substitution C T downstream_gene_variant UCEC-US 3 176768326 176768326 single base substitution C T missense_variant G167D 500G>A UCEC-US 3 176768329 176768329 single base substitution C T downstream_gene_variant UCEC-US 3 176768329 176768329 single base substitution C T missense_variant R166Q 497G>A UCEC-US 3 176768330 176768330 single base substitution G A downstream_gene_variant UCEC-US 3 176768330 176768330 single base substitution G A missense_variant R166W 496C>T UCEC-US 3 176768359 176768359 single base substitution T C downstream_gene_variant UCEC-US 3 176768359 176768359 single base substitution T C missense_variant E156G 467A>G UCEC-US 3 176768359 176768359 single base substitution T C missense_variant E69G 206A>G UCEC-US 3 176769436 176769436 single base substitution T G downstream_gene_variant UCEC-US 3 176769436 176769436 single base substitution T G synonymous_variant R8R 22A>C UCEC-US 3 176769436 176769436 single base substitution T G synonymous_variant R95R 283A>C UCEC-US 3 176769462 176769462 single base substitution G T 5_prime_UTR_variant UCEC-US 3 176769462 176769462 single base substitution G T downstream_gene_variant UCEC-US 3 176769462 176769462 single base substitution G T missense_variant A86D 257C>A UCEC-US 3 176771591 176771591 single base substitution C A 5_prime_UTR_variant UCEC-US 3 176771591 176771591 single base substitution C A downstream_gene_variant UCEC-US 3 176771591 176771591 single base substitution C A missense_variant Q58H 174G>T UCEC-US 3 176771652 176771652 single base substitution T C 5_prime_UTR_variant UCEC-US 3 176771652 176771652 single base substitution T C downstream_gene_variant UCEC-US 3 176771652 176771652 single base substitution T C missense_variant N38S 113A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 13460 COSM4944039 c.47_47delT p.L16fs*15 Deletion - Frameshift 3:177064931-177064931 - 2292391 COSM4440713 c.229C>A p.P77T Substitution - Missense 3:177051702-177051702 - ATL116 COSM3205534 c.971_973delCTT p.S324delS Deletion - In frame 3:177038387-177038389 - TCGA-AA-A010-01 COSM285606 c.511G>A p.E171K Substitution - Missense 3:177050527-177050527 - GHE0415 COSM3205534 c.971_973delCTT p.S324delS Deletion - In frame 3:177038387-177038389 - AOCS-152-1-X COSM4149674 c.1071G>T p.W357C Substitution - Missense 3:177038149-177038149 - TCGA-D1-A103-01 COSM1041409 c.1510G>T p.D504Y Substitution - Missense 3:177026381-177026381 - CHC2103T COSM4949463 c.1109_1121del13 p.D370fs*5 Deletion - Frameshift 3:177038099-177038111 - LPJ108 COSM1041411 c.1460T>C p.F487S Substitution - Missense 3:177026431-177026431 - 1733630 COSM4440699 c.? p.? Unknown CSCC-10-T COSM4440696 c.1256C>T p.S419F Substitution - Missense 3:177033131-177033131 - Pat_41_B COSM5863964 c.224G>A p.G75D Substitution - Missense 3:177051707-177051707 - 9906_069 COSM303883 c.226C>T p.R76* Substitution - Nonsense 3:177051705-177051705 - ATL238 COSM5708572 c.1255T>C p.S419P Substitution - Missense 3:177033132-177033132 - 2292390 COSM4440705 c.1274G>T p.R425M Substitution - Missense 3:177033113-177033113 - 471 COSM4437840 c.232delA p.I78fs*1 Deletion - Frameshift 3:177051699-177051699 - TCGA-AK-3455-01 COSM479736 c.680A>G p.D227G Substitution - Missense 3:177050019-177050019 - ATL160 COSM5045035 c.974G>A p.C325Y Substitution - Missense 3:177038386-177038386 - TCGA-29-1783-01 COSM1327711 c.606_624del19 p.T203fs*1 Deletion - Frameshift 3:177050075-177050093 - BD55T COSM5509348 c.477T>C p.P159P Substitution - coding silent 3:177050561-177050561 - ATL023 COSM5045073 c.1267A>C p.T423P Substitution - Missense 3:177033120-177033120 - tumor_4189035 COSM5949456 c.800G>T p.G267V Substitution - Missense 3:177047364-177047364 - TCGA-BR-4256-01 COSM1041412 c.1047G>A p.T349T Substitution - coding silent 3:177038313-177038313 - PD5165a COSM3719752 c.628G>A p.V210I Substitution - Missense 3:177050071-177050071 - T155 COSM1177037 c.1387G>A p.D463N Substitution - Missense 3:177033000-177033000 - 14D COSM1235152 c.739G>A p.G247R Substitution - Missense 3:177047513-177047513 - PD4005a COSM3664613 c.100A>G p.I34V Substitution - Missense 3:177053877-177053877 - Gp5D COSM3205548 c.127C>T p.L43F Substitution - Missense 3:177053850-177053850 - CHC2103T COSM4949463 c.1109_1121del13 p.D370fs*5 Deletion - Frameshift 3:177038099-177038111 - TCGA-D8-A27V-01 COSM3846780 c.3G>C p.M1I Substitution - Missense 3:177064975-177064975 - PD24302a COSM5768289 c.557C>T p.S186L Substitution - Missense 3:177050481-177050481 - ATL065 COSM5708590 c.847A>C p.S283R Substitution - Missense 3:177047317-177047317 - TCGA-18-3416-01 COSM729840 c.1531G>C p.D511H Substitution - Missense 3:177025512-177025512 - TCGA-A2-A0CS-01 COSM445983 c.1145A>G p.N382S Substitution - Missense 3:177034303-177034303 - PD14442a COSM729838 c.258C>T p.A86A Substitution - coding silent 3:177051673-177051673 - GHE0436 COSM5713420 c.978_982delTACAG p.S326fs*8 Deletion - Frameshift 3:177038378-177038382 - S0100 COSM5883782 c.268G>T p.D90Y Substitution - Missense 3:177051663-177051663 - ATL366 COSM5708592 c.811G>C p.A271P Substitution - Missense 3:177047353-177047353 - ATL272 COSM445987 c.422_423delTA p.I141fs*3 Deletion - Frameshift 3:177051508-177051509 - BD10T COSM5514507 c.807A>G p.I269M Substitution - Missense 3:177047357-177047357 - ATL143 COSM5708606 c.409G>T p.G137* Substitution - Nonsense 3:177051522-177051522 - Gp2D COSM3205548 c.127C>T p.L43F Substitution - Missense 3:177053850-177053850 - ATL010 COSM5708574 c.1183T>G p.Y395D Substitution - Missense 3:177034265-177034265 - TCGA-A8-A096-01 COSM445987 c.422_423delTA p.I141fs*3 Deletion - Frameshift 3:177051508-177051509 - TCGA-E2-A15G-01 COSM445990 c.106C>T p.Q36* Substitution - Nonsense 3:177053871-177053871 - TCGA-FW-A3R5-06 COSM3915400 c.528C>T p.A176A Substitution - coding silent 3:177050510-177050510 - 2292391 COSM4440706 c.637C>A p.H213N Substitution - Missense 3:177050062-177050062 - PD24209a COSM5799797 c.1140A>G p.Q380Q Substitution - coding silent 3:177034308-177034308 - 587222 COSM1228657 c.1051G>T p.E351* Substitution - Nonsense 3:177038169-177038169 - 9906_216 COSM303824 c.632_633ins14 p.R212fs*25 Insertion - Frameshift 3:177050066-177050067 - 18D COSM1235256 c.614delG p.G205fs*5 Deletion - Frameshift 3:177050085-177050085 - TCGA-AP-A059-01 COSM1041417 c.646C>A p.R216R Substitution - coding silent 3:177050053-177050053 - 4689 COSM4944038 c.1058A>G p.N353S Substitution - Missense 3:177038162-177038162 - TCGA-AZ-4315-01 COSM1420702 c.1539G>A p.R513R Substitution - coding silent 3:177025504-177025504 - ATL342 COSM5708588 c.869C>G p.T290R Substitution - Missense 3:177046185-177046185 - TCGA-AX-A0J0-01 COSM208335 c.1177G>T p.E393* Substitution - Nonsense 3:177034271-177034271 - 372-01-7TD COSM4828532 c.1097C>T p.S366F Substitution - Missense 3:177038123-177038123 - ATL326 COSM5708607 c.313C>T p.Q105* Substitution - Nonsense 3:177051618-177051618 - TCGA-39-5036-01 COSM729839 c.974G>C p.C325S Substitution - Missense 3:177038386-177038386 - ATL361 COSM5708597 c.740G>A p.G247E Substitution - Missense 3:177047512-177047512 - TCGA-HU-A4G8-01 COSM4115389 c.504T>C p.H168H Substitution - coding silent 3:177050534-177050534 - ATL330 COSM5708590 c.847A>C p.S283R Substitution - Missense 3:177047317-177047317 - 2292388 COSM4440703 c.1376G>A p.S459N Substitution - Missense 3:177033011-177033011 - 2292391 COSM4440711 c.35_38delTATA p.Y13fs*17 Deletion - Frameshift 3:177064940-177064943 - 1733609 COSM4440697 c.1255T>A p.S419T Substitution - Missense 3:177033132-177033132 - SNU-C4 COSM1420706 c.377delA p.N126fs*16 Deletion - Frameshift 3:177051554-177051554 - TCGA-F4-6856-01 COSM1420707 c.337G>A p.A113T Substitution - Missense 3:177051594-177051594 - CSCC-27-T COSM4456116 c.1257_1258CT>TC p.F420L Substitution - Missense 3:177033129-177033130 - 179-10-01TD COSM5418028 c.702+8T>C p.? Unknown 3:177049989-177049989 - T2269 COSM3205520 c.1473G>C p.W491C Substitution - Missense 3:177026418-177026418 - GHE0436 COSM5708596 c.793C>G p.H265D Substitution - Missense 3:177047371-177047371 - ATL092 COSM5708582 c.971C>T p.S324F Substitution - Missense 3:177038389-177038389 - ATL271 COSM5708608 c.205-2A>G p.? Unknown 3:177051728-177051728 - ATL056 COSM5708593 c.809T>G p.F270C Substitution - Missense 3:177047355-177047355 - 9906_259 COSM303843 c.381_382insA p.E128fs*17 Insertion - Frameshift 3:177051549-177051550 - ATL069 COSM5708605 c.421delA p.I141fs*1 Deletion - Frameshift 3:177051510-177051510 - TCGA-BR-4368-01 COSM4115388 c.1007T>C p.L336S Substitution - Missense 3:177038353-177038353 - pfg057T COSM4763652 c.1122G>T p.K374N Substitution - Missense 3:177038098-177038098 - ATL071 COSM4763652 c.1122G>T p.K374N Substitution - Missense 3:177038098-177038098 - CHC799T COSM4953511 c.595A>G p.S199G Substitution - Missense 3:177050104-177050104 - 1733608 COSM4440696 c.1256C>T p.S419F Substitution - Missense 3:177033131-177033131 - MM04T COSM5414958 c.563C>T p.S188F Substitution - Missense 3:177050136-177050136 - ATL365 COSM5045035 c.974G>A p.C325Y Substitution - Missense 3:177038386-177038386 - TCGA-B6-A0RN-01 COSM445985 c.854G>T p.G285V Substitution - Missense 3:177047310-177047310 - ATL155 COSM3205534 c.971_973delCTT p.S324delS Deletion - In frame 3:177038387-177038389 - TCGA-D1-A17Q-01 COSM1041425 c.113A>G p.N38S Substitution - Missense 3:177053864-177053864 - sysucc-1517T COSM5766440 c.144A>T p.A48A Substitution - coding silent 3:177053833-177053833 - CH-54-T2 COSM5650935 c.926-1G>C p.? Unknown 3:177038435-177038435 - 61 COSM5736832 c.526G>A p.A176T Substitution - Missense 3:177050512-177050512 - ATL011 COSM5708581 c.974G>T p.C325F Substitution - Missense 3:177038386-177038386 - ATL084 COSM5708584 c.931G>C p.A311P Substitution - Missense 3:177038429-177038429 - T2950 COSM1420706 c.377delA p.N126fs*16 Deletion - Frameshift 3:177051554-177051554 - ATL403 COSM5708575 c.1122+1delG p.? Unknown 3:177038097-177038097 - 08-P1004 COSM4584119 c.1424C>T p.A475V Substitution - Missense 3:177026467-177026467 - ATL346 COSM5708588 c.869C>G p.T290R Substitution - Missense 3:177046185-177046185 - S41_post COSM5575016 c.569A>T p.D190V Substitution - Missense 3:177050130-177050130 - ATL418 COSM5708584 c.931G>C p.A311P Substitution - Missense 3:177038429-177038429 - ATL238 COSM5708571 c.1259T>G p.F420C Substitution - Missense 3:177033128-177033128 - ATL226 COSM5708589 c.866C>T p.T289I Substitution - Missense 3:177046188-177046188 - TCGA-AP-A0LM-01 COSM1041414 c.1015G>T p.D339Y Substitution - Missense 3:177038345-177038345 - PD4005a COSM3664613 c.100A>G p.I34V Substitution - Missense 3:177053877-177053877 - CHC1154T COSM4952082 c.142G>T p.A48S Substitution - Missense 3:177053835-177053835 - TCGA-A8-A08Z-01 COSM445989 c.204+1G>C p.? Unknown 3:177053772-177053772 - PDA_043 COSM5000343 c.1508C>T p.S503L Substitution - Missense 3:177026383-177026383 - ATL347 COSM5708591 c.845T>C p.L282P Substitution - Missense 3:177047319-177047319 - TCGA-BH-A18P-01 COSM445986 c.423_424insTA p.A142fs*1 Insertion - Frameshift 3:177051507-177051508 - ATL306 COSM5708570 c.1339A>C p.S447R Substitution - Missense 3:177033048-177033048 - CSCC-31-T COSM4510536 c.840C>T p.F280F Substitution - coding silent 3:177047324-177047324 - ATL401 COSM5708584 c.931G>C p.A311P Substitution - Missense 3:177038429-177038429 - ATL417 COSM5708573 c.1251T>A p.S417R Substitution - Missense 3:177033136-177033136 - 2292388 COSM4440710 c.70T>C p.S24P Substitution - Missense 3:177053907-177053907 - TCGA-46-3769-01 COSM729837 c.222T>C p.D74D Substitution - coding silent 3:177051709-177051709 - LUAD-F00162 COSM366449 c.168T>A p.G56G Substitution - coding silent 3:177053809-177053809 - TCGA-AP-A056-01 COSM1041412 c.1047G>A p.T349T Substitution - coding silent 3:177038313-177038313 - TCGA-EE-A29N-06 COSM3915401 c.301G>A p.D101N Substitution - Missense 3:177051630-177051630 - LUAD-S01478 COSM399941 c.1019G>T p.R340I Substitution - Missense 3:177038341-177038341 - TCGA-A4-7288-01 COSM3992874 c.662A>G p.D221G Substitution - Missense 3:177050037-177050037 - TCGA-E2-A3DX-01 COSM445987 c.422_423delTA p.I141fs*3 Deletion - Frameshift 3:177051508-177051509 - ATL055 COSM5708601 c.502C>A p.H168N Substitution - Missense 3:177050536-177050536 - CHC614T COSM251160 c.832G>A p.G278R Substitution - Missense 3:177047332-177047332 - TCGA-22-5477-01 COSM729838 c.258C>T p.A86A Substitution - coding silent 3:177051673-177051673 - ATL061 COSM5708580 c.1043A>G p.H348R Substitution - Missense 3:177038317-177038317 - CHC2103T COSM5348033 c.1275delG p.R425fs*5 Deletion - Frameshift 3:177033112-177033112 - 2292389 COSM4440704 c.1336T>G p.Y446D Substitution - Missense 3:177033051-177033051 - ATL294 COSM5708603 c.424_425insTA p.A142fs*8 Insertion - Frameshift 3:177051506-177051507 - T263 COSM1420706 c.377delA p.N126fs*16 Deletion - Frameshift 3:177051554-177051554 - PD24336a COSM5791077 c.428-1G>C p.? Unknown 3:177050611-177050611 - TCGA-MI-A75E-01 COSM4939743 c.1072G>T p.D358Y Substitution - Missense 3:177038148-177038148 - ATL279 COSM5708586 c.920A>C p.H307P Substitution - Missense 3:177046134-177046134 - ATL400 COSM5708594 c.799G>T p.G267C Substitution - Missense 3:177047365-177047365 - SC_9036 COSM445987 c.422_423delTA p.I141fs*3 Deletion - Frameshift 3:177051508-177051509 - 2296357 COSM4766133 c.686C>G p.T229R Substitution - Missense 3:177050013-177050013 - TCGA-B5-A11E-01 COSM1041415 c.763G>T p.D255Y Substitution - Missense 3:177047489-177047489 - ESCC_BICR_031T COSM4939743 c.1072G>T p.D358Y Substitution - Missense 3:177038148-177038148 - TCGA-AP-A056-01 COSM1041411 c.1460T>C p.F487S Substitution - Missense 3:177026431-177026431 - 10-P1058 COSM4584120 c.342C>T p.A114A Substitution - coding silent 3:177051589-177051589 - ATL076 COSM5708588 c.869C>G p.T290R Substitution - Missense 3:177046185-177046185 - A549 COSM1193309 c.868A>G p.T290A Substitution - Missense 3:177046186-177046186 - TCGA-AA-A00N-01 COSM277620 c.683T>C p.V228A Substitution - Missense 3:177050016-177050016 - P114 COSM1736495 c.200A>G p.N67S Substitution - Missense 3:177053777-177053777 - ATL347 COSM5708603 c.424_425insTA p.A142fs*8 Insertion - Frameshift 3:177051506-177051507 - ATL070 COSM5708584 c.931G>C p.A311P Substitution - Missense 3:177038429-177038429 - T2950 COSM4732473 c.140C>A p.A47D Substitution - Missense 3:177053837-177053837 - 1N49-VS-1T49 COSM4976469 c.694G>C p.D232H Substitution - Missense 3:177050005-177050005 - RK038_C01 COSM3702365 c.1128G>T p.W376C Substitution - Missense 3:177034320-177034320 - ATL093 COSM5708599 c.570C>G p.D190E Substitution - Missense 3:177050129-177050129 - CHC799T COSM4953511 c.595A>G p.S199G Substitution - Missense 3:177050104-177050104 - ATL320 COSM5708579 c.1048-2A>G p.? Unknown 3:177038174-177038174 - TCGA-E2-A15P-01 COSM445984 c.959_961delACA p.N320delN Deletion - In frame 3:177038399-177038401 - LUAD-CHTN-MAD06-00668 COSM359865 c.463G>C p.V155L Substitution - Missense 3:177050575-177050575 - ATL330 COSM5708585 c.920A>G p.H307R Substitution - Missense 3:177046134-177046134 - TCGA-DG-A2KK-01 COSM4828532 c.1097C>T p.S366F Substitution - Missense 3:177038123-177038123 - TCGA-EK-A2RC-01 COSM4848659 c.649G>C p.E217Q Substitution - Missense 3:177050050-177050050 - 587342 COSM1228658 c.1339A>G p.S447G Substitution - Missense 3:177033048-177033048 - 2292392 COSM4440709 c.148A>T p.I50F Substitution - Missense 3:177053829-177053829 - SNUH_G10_S1 COSM4002522 c.766+5A>G p.? Unknown 3:177047481-177047481 - 2292391 COSM4440708 c.458G>A p.G153E Substitution - Missense 3:177050580-177050580 - ATL400 COSM5708595 c.798A>T p.K266N Substitution - Missense 3:177047366-177047366 - QC2-40-T2 COSM5655980 c.571T>C p.S191P Substitution - Missense 3:177050128-177050128 - TCGA-AA-A00N-01 COSM277619 c.846A>G p.L282L Substitution - coding silent 3:177047318-177047318 - HCC127T COSM5822845 c.991A>T p.I331F Substitution - Missense 3:177038369-177038369 - ATL354 COSM5708578 c.1059T>A p.N353K Substitution - Missense 3:177038161-177038161 - GB07 COSM1041419 c.497G>A p.R166Q Substitution - Missense 3:177050541-177050541 - CHC614T COSM251160 c.832G>A p.G278R Substitution - Missense 3:177047332-177047332 - ATL094 COSM5708587 c.919C>T p.H307Y Substitution - Missense 3:177046135-177046135 - C658 COSM4443459 c.202G>A p.E68K Substitution - Missense 3:177053775-177053775 - 1_PRE-TREATMENT COSM1720649 c.1250G>A p.S417N Substitution - Missense 3:177034198-177034198 - 2293759 COSM4606933 c.785T>C p.L262S Substitution - Missense 3:177047379-177047379 - RK308_C01 COSM3767306 c.764A>G p.D255G Substitution - Missense 3:177047488-177047488 - 18D COSM1235257 c.562T>A p.S188T Substitution - Missense 3:177050137-177050137 - TCGA-AX-A05Z-01 COSM1041422 c.283A>C p.R95R Substitution - coding silent 3:177051648-177051648 - 1733607 COSM4440695 c.1261G>C p.D421H Substitution - Missense 3:177033126-177033126 - 0039_CRUK_PC_0039_T1_DNA COSM5421649 c.560+1delG p.? Unknown 3:177050477-177050477 - TCGA-B5-A11E-01 COSM1041421 c.467A>G p.E156G Substitution - Missense 3:177050571-177050571 - ATL056 COSM5708576 c.1106A>G p.D369G Substitution - Missense 3:177038114-177038114 - 2521252 COSM5888782 c.1382C>T p.S461F Substitution - Missense 3:177033005-177033005 - TCGA-04-1331-01 COSM72926 c.281C>G p.T94R Substitution - Missense 3:177051650-177051650 - ATL273 COSM5708609 c.119A>G p.N40S Substitution - Missense 3:177053858-177053858 - ATL228 COSM3205529 c.1184A>G p.Y395C Substitution - Missense 3:177034264-177034264 - HCC61T COSM1617221 c.585A>G p.I195M Substitution - Missense 3:177050114-177050114 - TCGA-BH-A18R-01 COSM445986 c.423_424insTA p.A142fs*1 Insertion - Frameshift 3:177051507-177051508 - CH-109-T2 COSM1420703 c.1183T>C p.Y395H Substitution - Missense 3:177034265-177034265 - ATL403 COSM5708604 c.419_423delCTATA p.T140fs*3 Deletion - Frameshift 3:177051508-177051512 - 2292382 COSM4440696 c.1256C>T p.S419F Substitution - Missense 3:177033131-177033131 - XHDG42 COSM4770139 c.909G>T p.Q303H Substitution - Missense 3:177046145-177046145 - sysucc-1173T COSM5459682 c.973T>G p.C325G Substitution - Missense 3:177038387-177038387 - TCGA-A3-3357-01 COSM479737 c.531G>T p.W177C Substitution - Missense 3:177050507-177050507 - ATL004 COSM5708568 c.1388A>T p.D463V Substitution - Missense 3:177032999-177032999 - ATL057 COSM5708596 c.793C>G p.H265D Substitution - Missense 3:177047371-177047371 - TCGA-A6-6654-01 COSM1420705 c.728G>T p.G243V Substitution - Missense 3:177047524-177047524 - ATL008 COSM5708584 c.931G>C p.A311P Substitution - Missense 3:177038429-177038429 - TCGA-AP-A059-01 COSM1041423 c.257C>A p.A86D Substitution - Missense 3:177051674-177051674 - TCGA-B5-A11R-01 COSM1041410 c.1462G>A p.E488K Substitution - Missense 3:177026429-177026429 - 2292385 COSM4610436 c.920A>T p.H307L Substitution - Missense 3:177046134-177046134 - ATL076 COSM5708610 c.21G>T p.E7D Substitution - Missense 3:177064957-177064957 - TCGA-F5-6814-01 COSM208335 c.1177G>T p.E393* Substitution - Nonsense 3:177034271-177034271 - RK048_C COSM1632994 c.227G>C p.R76P Substitution - Missense 3:177051704-177051704 - ATL207 COSM5708585 c.920A>G p.H307R Substitution - Missense 3:177046134-177046134 - HN_62421 COSM129625 c.691C>G p.L231V Substitution - Missense 3:177050008-177050008 - ATL113 COSM4440696 c.1256C>T p.S419F Substitution - Missense 3:177033131-177033131 - TCGA-FU-A3HZ-01 COSM4839161 c.905A>C p.Q302P Substitution - Missense 3:177046149-177046149 - ATL327 COSM5708581 c.974G>T p.C325F Substitution - Missense 3:177038386-177038386 - ATL335 COSM5708577 c.1105G>C p.D369H Substitution - Missense 3:177038115-177038115 - 2292391 COSM4440712 c.230C>T p.P77L Substitution - Missense 3:177051701-177051701 - TCGA-F1-A448-01 COSM4115390 c.345A>C p.A115A Substitution - coding silent 3:177051586-177051586 - CHC1756T COSM4804467 c.1105G>T p.D369Y Substitution - Missense 3:177038115-177038115 - TCGA-BS-A0UF-01 COSM1041418 c.500G>A p.G167D Substitution - Missense 3:177050538-177050538 - ATL117 COSM3205530 c.1169A>G p.H390R Substitution - Missense 3:177034279-177034279 - 1_RESISTANT COSM1720649 c.1250G>A p.S417N Substitution - Missense 3:177034198-177034198 - DF01 COSM5759433 c.125C>T p.A42V Substitution - Missense 3:177053852-177053852 - TCGA-D5-6927-01 COSM1420703 c.1183T>C p.Y395H Substitution - Missense 3:177034265-177034265 - 7b COSM4657764 c.1089C>G p.L363L Substitution - coding silent 3:177038131-177038131 - ATL007 COSM5708610 c.21G>T p.E7D Substitution - Missense 3:177064957-177064957 - TCGA-E2-A15G-01 COSM445982 c.1489A>T p.K497* Substitution - Nonsense 3:177026402-177026402 - PD13766a COSM1041410 c.1462G>A p.E488K Substitution - Missense 3:177026429-177026429 - TCGA-GV-A3JZ-01 COSM1308833 c.1087C>G p.L363V Substitution - Missense 3:177038133-177038133 - TCGA-BT-A20U-01 COSM419703 c.1127G>T p.W376L Substitution - Missense 3:177034321-177034321 - TCGA-CH-5752-01 COSM1130292 c.1048-1G>C p.? Unknown 3:177038173-177038173 - ATL167 COSM5708600 c.502C>G p.H168D Substitution - Missense 3:177050536-177050536 - LC_S25 COSM1186457 c.337G>T p.A113S Substitution - Missense 3:177051594-177051594 - TCGA-BS-A0UF-01 COSM1041419 c.497G>A p.R166Q Substitution - Missense 3:177050541-177050541 - ATL352 COSM5708585 c.920A>G p.H307R Substitution - Missense 3:177046134-177046134 - HCC61 COSM1617221 c.585A>G p.I195M Substitution - Missense 3:177050114-177050114 - ATL402 COSM5708592 c.811G>C p.A271P Substitution - Missense 3:177047353-177047353 - CCK81 COSM3205550 c.9A>G p.I3M Substitution - Missense 3:177064969-177064969 - TCGA-A5-A0VP-01 COSM1041416 c.646C>T p.R216* Substitution - Nonsense 3:177050053-177050053 - TCGA-HE-A5NK-01 COSM4908452 c.108G>C p.Q36H Substitution - Missense 3:177053869-177053869 - ATL410 COSM5708588 c.869C>G p.T290R Substitution - Missense 3:177046185-177046185 - TCGA-AA-3510-01 COSM1420704 c.1108G>A p.D370N Substitution - Missense 3:177038112-177038112 - 18 COSM1420706 c.377delA p.N126fs*16 Deletion - Frameshift 3:177051554-177051554 - 2292381 COSM4440695 c.1261G>C p.D421H Substitution - Missense 3:177033126-177033126 - CHC1756T COSM4804467 c.1105G>T p.D369Y Substitution - Missense 3:177038115-177038115 - LS411 COSM3205524 c.1340G>A p.S447N Substitution - Missense 3:177033047-177033047 - SNU-175 COSM208338 c.883G>A p.A295T Substitution - Missense 3:177046171-177046171 - LPJ108 COSM1316247 c.1457T>G p.I486R Substitution - Missense 3:177026434-177026434 - ATL050 COSM3205534 c.971_973delCTT p.S324delS Deletion - In frame 3:177038387-177038389 - RK006_C02 COSM1632993 c.251_252insC p.D85fs*6 Insertion - Frameshift 3:177051679-177051680 - ATL246 COSM5708598 c.688_690delTCT p.S230delS Deletion - In frame 3:177050009-177050011 - tumor_4103141 COSM5045122 c.1337A>G p.Y446C Substitution - Missense 3:177033050-177033050 - 2292390 COSM4440707 c.596G>A p.S199N Substitution - Missense 3:177050103-177050103 - PCSI_0269_Pa_P_526 COSM4961926 c.331G>T p.A111S Substitution - Missense 3:177051600-177051600 - TCGA-A8-A096-01 COSM445988 c.419_420insCA p.A142fs*1 Insertion - Frameshift 3:177051511-177051512 - tumor_4160100 COSM5708574 c.1183T>G p.Y395D Substitution - Missense 3:177034265-177034265 - CSCC-27-T COSM4513019 c.923C>T p.S308L Substitution - Missense 3:177046131-177046131 - TCGA-FU-A3HZ-01 COSM4840356 c.1409A>C p.N470T Substitution - Missense 3:177032978-177032978 - tumor_4144951 COSM5948825 c.1126T>G p.W376G Substitution - Missense 3:177034322-177034322 - TCGA-D1-A103-01 COSM1041413 c.1046C>T p.T349M Substitution - Missense 3:177038314-177038314 - ATL183 COSM5708596 c.793C>G p.H265D Substitution - Missense 3:177047371-177047371 - 2292387 COSM4440697 c.1255T>A p.S419T Substitution - Missense 3:177033132-177033132 - 587376 COSM1228659 c.1003A>C p.K335Q Substitution - Missense 3:177038357-177038357 - 9906_069 COSM303811 c.862_864+4delAAGGTAA p.? Unknown 3:177047296-177047302 - ATL015 COSM5708602 c.427+1G>T p.? Unknown 3:177051503-177051503 - 587226 COSM1228656 c.1186A>G p.T396A Substitution - Missense 3:177034262-177034262 - ESCC_6 COSM5623375 c.418_419insT p.T140fs*5 Insertion - Frameshift 3:177051512-177051513 - ATL308 COSM5708569 c.1388A>C p.D463A Substitution - Missense 3:177032999-177032999 - RK048_C01 COSM1632994 c.227G>C p.R76P Substitution - Missense 3:177051704-177051704 - 467 COSM4437339 c.520A>G p.I174V Substitution - Missense 3:177050518-177050518 - CHC1154T COSM4952082 c.142G>T p.A48S Substitution - Missense 3:177053835-177053835 - HN_62624 COSM129624 c.977G>A p.S326N Substitution - Missense 3:177038383-177038383 - LUAD-S01315 COSM345462 c.161A>T p.Q54L Substitution - Missense 3:177053816-177053816 - AOCS-004-1-5 COSM4149673 c.1345G>C p.A449P Substitution - Missense 3:177033042-177033042 - QC2-34-T2 COSM5654710 c.586T>C p.W196R Substitution - Missense 3:177050113-177050113 - WA10 COSM241852 c.234_235delAG p.E79fs*11 Deletion - Frameshift 3:177051696-177051697 - S02248 COSM5679708 c.547C>A p.L183I Substitution - Missense 3:177050491-177050491 - 3N25-VS-3T25 COSM4979992 c.718C>G p.L240V Substitution - Missense 3:177047534-177047534 - 1733629 COSM4440698 c.1335G>T p.V445V Substitution - coding silent 3:177033052-177033052 - TCGA-AX-A05Z-01 COSM1041424 c.174G>T p.Q58H Substitution - Missense 3:177053803-177053803 - ATL241 COSM5708603 c.424_425insTA p.A142fs*8 Insertion - Frameshift 3:177051506-177051507 - TCGA-D1-A17U-01 COSM1041420 c.496C>T p.R166W Substitution - Missense 3:177050542-177050542 - ATL309 COSM5708598 c.688_690delTCT p.S230delS Deletion - In frame 3:177050009-177050011 - B24-Tumor COSM4005299 c.134C>T p.P45L Substitution - Missense 3:177053843-177053843 - ATL326 COSM5708583 c.965T>G p.F322C Substitution - Missense 3:177038395-177038395 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.581171 3q26.32 608628

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.I394M c.1182T>G 3 176752054 LUAD A G Missense p.L336S c.1007T>C 3 176756141 STAD A G Synonymous p.D74D c.222T>C 3 176769497 LUSC - A IntronicInsertion . c.204+34dupT 3 176771527 ESCA - A Nonsense p.S181*fs*1 c.540dupT 3 176768286 PRAD A T Missense p.F487I c.1459T>A 3 176744220 ALL C A Missense p.G285V c.854G>T 3 176765098 BRCA C A Missense p.S202I c.605G>T 3 176767882 LUAD C A Missense p.W177C c.531G>T 3 176768295 RCCC C A Missense p.W376L c.1127G>T 3 176752109 BLCA CC AA SpliceDonorBlockSubstitution . c.1122_1122+1delinsTT 3 176755885 LUAD C G Missense p.C325S c.974G>C 3 176756174 LUSC C G Missense p.C490S c.1469G>C 3 176744210 LUAD C G Missense p.D511H c.1531G>C 3 176743300 LUSC C G Missense p.D85H c.253G>C 3 176769466 LUAD C G Missense p.R76P c.227G>C 3 176769492 HC C G SpliceAcceptorSNV . c.1048-1G>C 3 176755961 PRAD C G SpliceAcceptorSNV . c.703-1G>C 3 176765338 HNSC C G SpliceDonorSNV . c.204+1G>C 3 176771560 BRCA C T IntronicSNV . c.1-129007G>A 3 176911772 PIA C T IntronicSNV . c.1417-3069G>A 3 176747331 CLL C T Missense p.D101N c.301G>A 3 176769418 CM C T Missense p.E488K c.1462G>A 3 176744217 UCEC C T Missense p.G122E c.365G>A 3 176769354 RCCC C T Missense p.S119N c.356G>A 3 176769363 HNSC C T Missense p.S326N c.977G>A 3 176756171 HNSC C T Synonymous p.T349T c.1047G>A 3 176756101 STAD G A IntronicSNV . c.1417-11C>T 3 176744273 CM G A Missense p.A502V c.1505C>T 3 176744174 HNSC G A Missense p.R166W c.496C>T 3 176768330 UCEC G A Nonsense p.Q36* c.106C>T 3 176771659 BRCA G A Nonsense p.R216* c.646C>T 3 176767841 UCEC G A Synonymous p.A86A c.258C>T 3 176769461 LUSC - GC IntronicInsertion . c.59-157_59-156insGC 3 176771862 CM G C Missense p.L231V c.691C>G 3 176767796 HNSC G C Missense p.L363V c.1087C>G 3 176755921 BLCA G C Missense p.T94R c.281C>G 3 176769438 OV - G Frameshift p.I84Tfs*7 c.250_251insC 3 176769468 HC - TA Frameshift p.A142Kfs*8 c.422_423insTA 3 176769296 BRCA TA - Frameshift p.I141Sfs*3 c.422_423delTA 3 176769296 BRCA T A Nonsense p.K497* c.1489A>T 3 176744190 BRCA T C 3-UTRSNV . c.1542+2087A>G 3 176741202 HC T C 3-UTRSNV . c.1542+5823A>G 3 176737466 MB T C IntronicSNV . c.1-61045A>G 3 176843810 HC T C Missense p.D227G c.680A>G 3 176767807 RCCC T C Missense p.H33R c.98A>G 3 176771667 LUAD T C Missense p.N382S c.1145A>G 3 176752091 BRCA T - Frameshift p.N126Mfs*16 c.377delA 3 176769342 STAD T G 3-UTRSNV . c.1542+1966A>C 3 176741323 HC - TG Frameshift p.I141Lfs*2 c.418_419dupAC 3 176769300 BRCA TGT - InFrameDeletion p.N320delN c.959_961delACA 3 176756187 BRCA