Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 117465865 117465865 + Missense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr12:117465865C>T c.1685C>T c.(1684-1686)gCg>gTg p.A562V BLCA 12 117365827 117365827 + Splice_Site SNP G G A TCGA-ZF-AA58-01A-12D-A42E-08 TCGA-ZF-AA58-10A-01D-A42H-08 g.chr12:117365827G>A c.e2-1 BLCA 12 117402575 117402575 + Missense_Mutation SNP G G A TCGA-E7-A5KE-01A-11D-A289-08 TCGA-E7-A5KE-10A-01D-A289-08 g.chr12:117402575G>A c.751G>A c.(751-753)Gac>Aac p.D251N BLCA 12 117402587 117402587 + Missense_Mutation SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr12:117402587G>A c.763G>A c.(763-765)Gag>Aag p.E255K BLCA 12 117423070 117423070 + Missense_Mutation SNP G G A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr12:117423070G>A c.895G>A c.(895-897)Gat>Aat p.D299N BLCA 12 117448166 117448166 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr12:117448166G>C c.1278G>C c.(1276-1278)ttG>ttC p.L426F BRCA 12 117387426 117387426 + Missense_Mutation SNP C C T TCGA-E2-A1LB-01A-11D-A142-09 TCGA-E2-A1LB-11A-22D-A142-09 g.chr12:117387426C>T c.592C>T c.(592-594)Cgc>Tgc p.R198C BRCA 12 117426610 117426610 + Missense_Mutation SNP A A C TCGA-E9-A295-01A-11D-A16D-09 TCGA-E9-A295-10A-01D-A16D-09 g.chr12:117426610A>C c.1175A>C c.(1174-1176)gAc>gCc p.D392A BRCA 12 117448250 117448250 + Silent SNP C C T TCGA-C8-A27A-01A-11D-A167-09 TCGA-C8-A27A-10B-01D-A167-09 g.chr12:117448250C>T c.1362C>T c.(1360-1362)gaC>gaT p.D454D BRCA 12 117465283 117465283 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr12:117465283C>G c.1626C>G c.(1624-1626)gaC>gaG p.D542E CESC 12 117402550 117402550 + Silent SNP C C T TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr12:117402550C>T c.726C>T c.(724-726)taC>taT p.Y242Y CESC 12 117426499 117426499 + Missense_Mutation SNP G G C TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr12:117426499G>C c.1064G>C c.(1063-1065)aGa>aCa p.R355T CESC 12 117426609 117426609 + Missense_Mutation SNP G G A TCGA-C5-A1BM-01A-11D-A13W-08 TCGA-C5-A1BM-10A-01D-A13W-08 g.chr12:117426609G>A c.1174G>A c.(1174-1176)Gac>Aac p.D392N CESC 12 117465245 117465245 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr12:117465245G>A c.1588G>A c.(1588-1590)Gcc>Acc p.A530T COAD 12 117423085 117423085 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:117423085G>A c.910G>A c.(910-912)Gca>Aca p.A304T COAD 12 117423185 117423185 + Missense_Mutation SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:117423185C>T c.1010C>T c.(1009-1011)gCg>gTg p.A337V COAD 12 117423201 117423201 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:117423201G>A c.1026G>A c.(1024-1026)ccG>ccA p.P342P COAD 12 117448156 117448156 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr12:117448156G>A c.1268G>A c.(1267-1269)cGc>cAc p.R423H COAD 12 117461971 117461971 + Missense_Mutation SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:117461971C>T c.1387C>T c.(1387-1389)Cgc>Tgc p.R463C COAD 12 117461972 117461972 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:117461972G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COAD 12 117465850 117465850 + Missense_Mutation SNP G G A TCGA-AA-3679-01A-02W-0900-09 TCGA-AA-3679-10A-01W-0900-09 g.chr12:117465850G>A c.1670G>A c.(1669-1671)cGc>cAc p.R557H COADREAD 12 117365904 117365904 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:117365904A>G c.395A>G c.(394-396)gAc>gGc p.D132G COADREAD 12 117423085 117423085 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:117423085G>A c.910G>A c.(910-912)Gca>Aca p.A304T COADREAD 12 117423185 117423185 + Missense_Mutation SNP C C T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:117423185C>T c.1010C>T c.(1009-1011)gCg>gTg p.A337V COADREAD 12 117423201 117423201 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:117423201G>A c.1026G>A c.(1024-1026)ccG>ccA p.P342P COADREAD 12 117448156 117448156 + Missense_Mutation SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr12:117448156G>A c.1268G>A c.(1267-1269)cGc>cAc p.R423H COADREAD 12 117461971 117461971 + Missense_Mutation SNP C C T TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr12:117461971C>T c.1387C>T c.(1387-1389)Cgc>Tgc p.R463C COADREAD 12 117461972 117461972 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:117461972G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H COADREAD 12 117465850 117465850 + Missense_Mutation SNP G G A TCGA-AA-3679-01A-02W-0900-09 TCGA-AA-3679-10A-01W-0900-09 g.chr12:117465850G>A c.1670G>A c.(1669-1671)cGc>cAc p.R557H DLBC 12 117387465 117387465 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr12:117387465A>G c.631A>G c.(631-633)Aca>Gca p.T211A DLBC 12 117402583 117402583 + Missense_Mutation SNP G G C TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr12:117402583G>C c.759G>C c.(757-759)gaG>gaC p.E253D ESCA 12 117402587 117402587 + Missense_Mutation SNP G G A TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr12:117402587G>A c.763G>A c.(763-765)Gag>Aag p.E255K ESCA 12 117461965 117461965 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr12:117461965G>T c.1381G>T c.(1381-1383)Gac>Tac p.D461Y GBMLGG 12 117448196 117448196 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr12:117448196G>A c.1308G>A c.(1306-1308)acG>acA p.T436T GBMLGG 12 117461972 117461972 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:117461972G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H HNSC 12 117387508 117387509 + Frame_Shift_Ins INS - - G TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr12:117387508_117387509insG c.674_675insG c.(673-678)gcgggafs p.AG225fs HNSC 12 117402570 117402570 + Missense_Mutation SNP C C T TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr12:117402570C>T c.746C>T c.(745-747)tCa>tTa p.S249L HNSC 12 117465256 117465256 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:117465256T>C c.1599T>C c.(1597-1599)ccT>ccC p.P533P HNSC 12 117465849 117465849 + Missense_Mutation SNP C C T TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr12:117465849C>T c.1669C>T c.(1669-1671)Cgc>Tgc p.R557C KIPAN 12 117448164 117448164 + Missense_Mutation SNP T T A TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr12:117448164T>A c.1276T>A c.(1276-1278)Ttg>Atg p.L426M KIPAN 12 117448166 117448167 + Missense_Mutation DNP GA GA AC TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr12:117448166_117448167GA>AC c.1278_1279GA>AC c.(1276-1281)ttGAag>ttACag p.K427Q KIRC 12 117448164 117448164 + Missense_Mutation SNP T T A TCGA-AK-3425-01A-02D-1361-10 TCGA-AK-3425-10A-01D-1361-10 g.chr12:117448164T>A c.1276T>A c.(1276-1278)Ttg>Atg p.L426M KIRC 12 117448166 117448167 + Missense_Mutation DNP GA GA AC TCGA-BP-4963-01A-01D-1462-08 TCGA-BP-4963-11A-01D-1462-08 g.chr12:117448166_117448167GA>AC c.1278_1279GA>AC c.(1276-1281)ttGAag>ttACag p.K427Q LGG 12 117448196 117448196 + Silent SNP G G A TCGA-DB-A4XD-01A-11D-A27K-08 TCGA-DB-A4XD-10A-01D-A27N-08 g.chr12:117448196G>A c.1308G>A c.(1306-1308)acG>acA p.T436T LGG 12 117461972 117461972 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:117461972G>A c.1388G>A c.(1387-1389)cGc>cAc p.R463H LIHC 12 117383227 117383227 + Missense_Mutation SNP A A T TCGA-DD-AACH-01A-11D-A40R-10 TCGA-DD-AACH-10A-01D-A40U-10 g.chr12:117383227A>T c.482A>T c.(481-483)cAg>cTg p.Q161L LUAD 12 117383217 117383217 + Missense_Mutation SNP A A G TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr12:117383217A>G c.472A>G c.(472-474)Agg>Ggg p.R158G LUAD 12 117426644 117426644 + Missense_Mutation SNP G G T TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr12:117426644G>T c.1209G>T c.(1207-1209)caG>caT p.Q403H LUSC 12 117402577 117402577 + Silent SNP C C T TCGA-60-2719-01A-01D-1522-08 TCGA-60-2719-11A-01D-1522-08 g.chr12:117402577C>T c.753C>T c.(751-753)gaC>gaT p.D251D LUSC 12 117448145 117448146 + Missense_Mutation DNP GG GG TA TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:117448145_117448146GG>TA c.1257_1258GG>TA c.(1255-1260)ctGGaa>ctTAaa p.E420K LUSC 12 117465849 117465849 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr12:117465849C>T c.1669C>T c.(1669-1671)Cgc>Tgc p.R557C OV 12 117365883 117365883 + Missense_Mutation SNP T T C TCGA-13-1481-01A-01W-0549-09 TCGA-13-1481-10A-01W-0549-09 g.chr12:117365883T>C c.374T>C c.(373-375)aTc>aCc p.I125T OV 12 117461994 117461994 + Silent SNP G G T TCGA-25-2392-01A-01W-0799-08 TCGA-25-2392-10A-01W-0799-08 g.chr12:117461994G>T c.1410G>T c.(1408-1410)tcG>tcT p.S470S PAAD 12 117465243 117465243 + Missense_Mutation SNP C C A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:117465243C>A c.1586C>A c.(1585-1587)aCg>aAg p.T529K PRAD 12 117465865 117465865 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:117465865C>T c.1685C>T c.(1684-1686)gCg>gTg p.A562V READ 12 117365904 117365904 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:117365904A>G c.395A>G c.(394-396)gAc>gGc p.D132G SARC 12 117365893 117365893 + Silent SNP T T C TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr12:117365893T>C c.384T>C c.(382-384)ttT>ttC p.F128F SKCM 12 117383327 117383327 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr12:117383327C>T c.582C>T c.(580-582)aaC>aaT p.N194N SKCM 12 117402562 117402562 + Silent SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr12:117402562C>T c.738C>T c.(736-738)ttC>ttT p.F246F SKCM 12 117426628 117426628 + Missense_Mutation SNP T T C TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:117426628T>C c.1193T>C c.(1192-1194)gTt>gCt p.V398A SKCM 12 117448247 117448247 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:117448247G>A c.1359G>A c.(1357-1359)atG>atA p.M453I SKCM 12 117462048 117462048 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr12:117462048C>T c.1464C>T c.(1462-1464)atC>atT p.I488I SKCM 12 117462069 117462069 + Silent SNP C C A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:117462069C>A c.1485C>A c.(1483-1485)ggC>ggA p.G495G SKCM 12 117462070 117462070 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:117462070C>T c.1486C>T c.(1486-1488)Ctg>Ttg p.L496L SKCM 12 117465253 117465253 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr12:117465253G>A c.1596G>A c.(1594-1596)gtG>gtA p.V532V SKCM 12 117465961 117465961 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr12:117465961C>T c.1781C>T c.(1780-1782)cCc>cTc p.P594L

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 12 117465931 117465931 single base substitution C G missense_variant T518S 1553C>G BLCA-CN 12 117465931 117465931 single base substitution C G missense_variant T584S 1751C>G BLCA-US 12 117402587 117402587 single base substitution G A missense_variant E189K 565G>A BLCA-US 12 117402587 117402587 single base substitution G A missense_variant E255K 763G>A BOCA-FR 12 117463543 117463543 single base substitution G A intron_variant BOCA-FR 12 117468290 117468290 single base substitution G C 3_prime_UTR_variant BOCA-FR 12 117468290 117468290 single base substitution G C downstream_gene_variant BRCA-EU 12 117344220 117344220 single base substitution C A upstream_gene_variant BRCA-EU 12 117344493 117344493 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 117346894 117346894 insertion of <=200bp - T upstream_gene_variant BRCA-EU 12 117347271 117347271 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 117349178 117349178 deletion of <=200bp C - intron_variant BRCA-EU 12 117350322 117350322 single base substitution T C intron_variant BRCA-EU 12 117351005 117351005 single base substitution C G intron_variant BRCA-EU 12 117351758 117351758 single base substitution C G intron_variant BRCA-EU 12 117352795 117352795 single base substitution G C intron_variant BRCA-EU 12 117355507 117355507 single base substitution C T intron_variant BRCA-EU 12 117355703 117355703 single base substitution A T intron_variant BRCA-EU 12 117355889 117355889 single base substitution T C intron_variant BRCA-EU 12 117355928 117355928 single base substitution G A intron_variant BRCA-EU 12 117356498 117356498 single base substitution G T intron_variant BRCA-EU 12 117356499 117356499 single base substitution A T intron_variant BRCA-EU 12 117356771 117356771 deletion of <=200bp T - intron_variant BRCA-EU 12 117356908 117356908 single base substitution A C intron_variant BRCA-EU 12 117359321 117359321 single base substitution A G intron_variant BRCA-EU 12 117359876 117359876 single base substitution C T intron_variant BRCA-EU 12 117360089 117360089 single base substitution G T intron_variant BRCA-EU 12 117360309 117360309 single base substitution A T intron_variant BRCA-EU 12 117361010 117361010 single base substitution C G intron_variant BRCA-EU 12 117361286 117361286 single base substitution C G intron_variant BRCA-EU 12 117361353 117361353 single base substitution C G intron_variant BRCA-EU 12 117362968 117362968 single base substitution G T intron_variant BRCA-EU 12 117363639 117363639 single base substitution C G intron_variant BRCA-EU 12 117364033 117364033 single base substitution C G intron_variant BRCA-EU 12 117364172 117364172 single base substitution C T intron_variant BRCA-EU 12 117364231 117364231 single base substitution G A intron_variant BRCA-EU 12 117364311 117364311 single base substitution A T intron_variant BRCA-EU 12 117364945 117364945 single base substitution T C intron_variant BRCA-EU 12 117366686 117366686 single base substitution G T intron_variant BRCA-EU 12 117368620 117368620 deletion of <=200bp T - intron_variant BRCA-EU 12 117369148 117369148 single base substitution C G intron_variant BRCA-EU 12 117371641 117371641 single base substitution T C intron_variant BRCA-EU 12 117372091 117372091 single base substitution C T intron_variant BRCA-EU 12 117372333 117372333 single base substitution A G intron_variant BRCA-EU 12 117372804 117372804 single base substitution C G intron_variant BRCA-EU 12 117373697 117373697 insertion of <=200bp - A intron_variant BRCA-EU 12 117376030 117376030 single base substitution C G intron_variant BRCA-EU 12 117376301 117376301 single base substitution C G intron_variant BRCA-EU 12 117377031 117377031 single base substitution T A intron_variant BRCA-EU 12 117380125 117380125 deletion of <=200bp T - intron_variant BRCA-EU 12 117381402 117381402 single base substitution G C intron_variant BRCA-EU 12 117381732 117381749 deletion of <=200bp AAAGACAAGCCTTGAGAA - intron_variant BRCA-EU 12 117382280 117382280 single base substitution G C intron_variant BRCA-EU 12 117384204 117384204 single base substitution G T intron_variant BRCA-EU 12 117384533 117384533 single base substitution G A intron_variant BRCA-EU 12 117387017 117387017 single base substitution T G intron_variant BRCA-EU 12 117387195 117387195 single base substitution C A intron_variant BRCA-EU 12 117388859 117388859 single base substitution G A intron_variant BRCA-EU 12 117389149 117389149 single base substitution G C intron_variant BRCA-EU 12 117391608 117391608 single base substitution C G intron_variant BRCA-EU 12 117393335 117393335 single base substitution G T intron_variant BRCA-EU 12 117393922 117393922 deletion of <=200bp A - intron_variant BRCA-EU 12 117393970 117393970 single base substitution C G intron_variant BRCA-EU 12 117394388 117394388 single base substitution T C intron_variant BRCA-EU 12 117397727 117397727 single base substitution C T intron_variant BRCA-EU 12 117397819 117397819 single base substitution C G intron_variant BRCA-EU 12 117400341 117400341 single base substitution A G intron_variant BRCA-EU 12 117402436 117402436 single base substitution C T intron_variant BRCA-EU 12 117404351 117404351 single base substitution C T intron_variant BRCA-EU 12 117408370 117408370 single base substitution G T intron_variant BRCA-EU 12 117410324 117410324 single base substitution T C intron_variant BRCA-EU 12 117411902 117411902 single base substitution A G intron_variant BRCA-EU 12 117411902 117411902 single base substitution A G upstream_gene_variant BRCA-EU 12 117412277 117412277 single base substitution G A intron_variant BRCA-EU 12 117412277 117412277 single base substitution G A upstream_gene_variant BRCA-EU 12 117415126 117415126 single base substitution C T intron_variant BRCA-EU 12 117415126 117415126 single base substitution C T upstream_gene_variant BRCA-EU 12 117415328 117415328 single base substitution C T intron_variant BRCA-EU 12 117415328 117415328 single base substitution C T upstream_gene_variant BRCA-EU 12 117415439 117415439 single base substitution C T intron_variant BRCA-EU 12 117415439 117415439 single base substitution C T upstream_gene_variant BRCA-EU 12 117415726 117415726 single base substitution C G intron_variant BRCA-EU 12 117415726 117415726 single base substitution C G upstream_gene_variant BRCA-EU 12 117415795 117415795 single base substitution G T intron_variant BRCA-EU 12 117415795 117415795 single base substitution G T upstream_gene_variant BRCA-EU 12 117415868 117415868 single base substitution A G intron_variant BRCA-EU 12 117415868 117415868 single base substitution A G upstream_gene_variant BRCA-EU 12 117416145 117416145 single base substitution A T exon_variant BRCA-EU 12 117416145 117416145 single base substitution A T intron_variant BRCA-EU 12 117416556 117416556 single base substitution C G intron_variant BRCA-EU 12 117417165 117417165 single base substitution C T intron_variant BRCA-EU 12 117419632 117419632 single base substitution T C intron_variant BRCA-EU 12 117419747 117419747 single base substitution T C intron_variant BRCA-EU 12 117420015 117420015 single base substitution G A intron_variant BRCA-EU 12 117420189 117420189 single base substitution G T intron_variant BRCA-EU 12 117421478 117421478 single base substitution G C intron_variant BRCA-EU 12 117421703 117421703 single base substitution A G intron_variant BRCA-EU 12 117423144 117423144 single base substitution G C exon_variant BRCA-EU 12 117423144 117423144 single base substitution G C synonymous_variant V257V 771G>C BRCA-EU 12 117423144 117423144 single base substitution G C synonymous_variant V323V 969G>C BRCA-EU 12 117423886 117423886 single base substitution T A downstream_gene_variant BRCA-EU 12 117423886 117423886 single base substitution T A intron_variant BRCA-EU 12 117424530 117424530 single base substitution T A downstream_gene_variant BRCA-EU 12 117424530 117424530 single base substitution T A intron_variant BRCA-EU 12 117424758 117424758 single base substitution C G downstream_gene_variant BRCA-EU 12 117424758 117424758 single base substitution C G intron_variant BRCA-EU 12 117425180 117425180 single base substitution C A downstream_gene_variant BRCA-EU 12 117425180 117425180 single base substitution C A intron_variant BRCA-EU 12 117425940 117425940 single base substitution G C downstream_gene_variant BRCA-EU 12 117425940 117425940 single base substitution G C intron_variant BRCA-EU 12 117427677 117427677 single base substitution A G downstream_gene_variant BRCA-EU 12 117427677 117427677 single base substitution A G intron_variant BRCA-EU 12 117429632 117429632 single base substitution A T intron_variant BRCA-EU 12 117431765 117431765 single base substitution C T intron_variant BRCA-EU 12 117433673 117433673 single base substitution C T intron_variant BRCA-EU 12 117434639 117434639 single base substitution A C intron_variant BRCA-EU 12 117435258 117435258 single base substitution A G intron_variant BRCA-EU 12 117435478 117435478 single base substitution G A intron_variant BRCA-EU 12 117439559 117439559 single base substitution C T intron_variant BRCA-EU 12 117440324 117440324 single base substitution G C intron_variant BRCA-EU 12 117441721 117441721 single base substitution A C intron_variant BRCA-EU 12 117444600 117444600 single base substitution G A intron_variant BRCA-EU 12 117445722 117445722 single base substitution C T intron_variant BRCA-EU 12 117445879 117445879 single base substitution A G intron_variant BRCA-EU 12 117445897 117445897 single base substitution G C intron_variant BRCA-EU 12 117446422 117446422 single base substitution A T intron_variant BRCA-EU 12 117448126 117448126 single base substitution A C splice_acceptor_variant BRCA-EU 12 117448193 117448193 single base substitution C T synonymous_variant F369F 1107C>T BRCA-EU 12 117448193 117448193 single base substitution C T synonymous_variant F435F 1305C>T BRCA-EU 12 117449086 117449086 single base substitution G A intron_variant BRCA-EU 12 117450303 117450303 single base substitution G T intron_variant BRCA-EU 12 117452264 117452264 single base substitution G C intron_variant BRCA-EU 12 117452846 117452846 deletion of <=200bp A - intron_variant BRCA-EU 12 117453813 117453813 single base substitution A G intron_variant BRCA-EU 12 117454269 117454269 single base substitution T A intron_variant BRCA-EU 12 117455999 117455999 single base substitution C T intron_variant BRCA-EU 12 117456236 117456236 single base substitution C T intron_variant BRCA-EU 12 117456450 117456450 single base substitution T A intron_variant BRCA-EU 12 117456722 117456722 single base substitution C T intron_variant BRCA-EU 12 117458140 117458140 single base substitution A G intron_variant BRCA-EU 12 117458392 117458392 single base substitution A G intron_variant BRCA-EU 12 117459101 117459101 single base substitution C G intron_variant BRCA-EU 12 117459321 117459321 single base substitution C G intron_variant BRCA-EU 12 117460237 117460237 single base substitution A C intron_variant BRCA-EU 12 117461279 117461279 single base substitution A G intron_variant BRCA-EU 12 117464030 117464030 single base substitution C T intron_variant BRCA-EU 12 117465371 117465371 insertion of <=200bp - C intron_variant BRCA-EU 12 117466764 117466764 single base substitution A G 3_prime_UTR_variant BRCA-EU 12 117466764 117466764 single base substitution A G downstream_gene_variant BRCA-EU 12 117466847 117466847 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 117466847 117466847 single base substitution C T downstream_gene_variant BRCA-EU 12 117468406 117468406 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 117468406 117468406 single base substitution G A downstream_gene_variant BRCA-EU 12 117471121 117471121 single base substitution C G downstream_gene_variant BRCA-EU 12 117471639 117471639 single base substitution T C downstream_gene_variant BRCA-EU 12 117472344 117472344 single base substitution C G downstream_gene_variant BRCA-EU 12 117473304 117473304 single base substitution C T downstream_gene_variant BRCA-FR 12 117356498 117356498 single base substitution G T intron_variant BRCA-FR 12 117356499 117356499 single base substitution A T intron_variant BRCA-FR 12 117357288 117357288 single base substitution T G intron_variant BRCA-FR 12 117362968 117362968 single base substitution G T intron_variant BRCA-FR 12 117364231 117364231 single base substitution G A intron_variant BRCA-FR 12 117366686 117366686 single base substitution G T intron_variant BRCA-FR 12 117372333 117372333 single base substitution A G intron_variant BRCA-FR 12 117393896 117393896 single base substitution G A intron_variant BRCA-FR 12 117393970 117393970 single base substitution C G intron_variant BRCA-FR 12 117397727 117397727 single base substitution C T intron_variant BRCA-FR 12 117397819 117397819 single base substitution C G intron_variant BRCA-FR 12 117408370 117408370 single base substitution G T intron_variant BRCA-FR 12 117424758 117424758 single base substitution C G downstream_gene_variant BRCA-FR 12 117424758 117424758 single base substitution C G intron_variant BRCA-FR 12 117441235 117441235 single base substitution G T intron_variant BRCA-FR 12 117441721 117441721 single base substitution A C intron_variant BRCA-FR 12 117444321 117444321 single base substitution C T intron_variant BRCA-FR 12 117454790 117454790 single base substitution A G intron_variant BRCA-FR 12 117459321 117459321 single base substitution C G intron_variant BRCA-FR 12 117466847 117466847 single base substitution C T 3_prime_UTR_variant BRCA-FR 12 117466847 117466847 single base substitution C T downstream_gene_variant BRCA-FR 12 117467856 117467856 single base substitution C G 3_prime_UTR_variant BRCA-FR 12 117467856 117467856 single base substitution C G downstream_gene_variant BRCA-FR 12 117468592 117468592 single base substitution C A 3_prime_UTR_variant BRCA-FR 12 117468592 117468592 single base substitution C A downstream_gene_variant BRCA-FR 12 117470337 117470337 single base substitution T C downstream_gene_variant BRCA-FR 12 117472344 117472344 single base substitution C G downstream_gene_variant BRCA-FR 12 117473304 117473304 single base substitution C T downstream_gene_variant BRCA-UK 12 117380124 117380124 single base substitution C G intron_variant BRCA-UK 12 117381402 117381402 single base substitution G C intron_variant BRCA-UK 12 117421478 117421478 single base substitution G C intron_variant BRCA-UK 12 117439071 117439071 single base substitution C T intron_variant BRCA-UK 12 117461279 117461279 single base substitution A G intron_variant BRCA-UK 12 117464435 117464435 single base substitution C A intron_variant BRCA-UK 12 117468076 117468076 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 117468076 117468076 single base substitution C T downstream_gene_variant BRCA-US 12 117387426 117387426 single base substitution C T missense_variant R132C 394C>T BRCA-US 12 117387426 117387426 single base substitution C T missense_variant R198C 592C>T BRCA-US 12 117426610 117426610 single base substitution A C downstream_gene_variant BRCA-US 12 117426610 117426610 single base substitution A C missense_variant D326A 977A>C BRCA-US 12 117426610 117426610 single base substitution A C missense_variant D392A 1175A>C BRCA-US 12 117448250 117448250 single base substitution C T synonymous_variant D388D 1164C>T BRCA-US 12 117448250 117448250 single base substitution C T synonymous_variant D454D 1362C>T BRCA-US 12 117465283 117465283 single base substitution C G missense_variant D476E 1428C>G BRCA-US 12 117465283 117465283 single base substitution C G missense_variant D542E 1626C>G BTCA-JP 12 117348972 117348972 single base substitution G A intron_variant BTCA-JP 12 117348972 117348972 single base substitution G A missense_variant G44R 130G>A BTCA-JP 12 117387384 117387384 single base substitution G A intron_variant CESC-US 12 117402550 117402550 single base substitution C T synonymous_variant Y176Y 528C>T CESC-US 12 117402550 117402550 single base substitution C T synonymous_variant Y242Y 726C>T CESC-US 12 117426499 117426499 single base substitution G C downstream_gene_variant CESC-US 12 117426499 117426499 single base substitution G C missense_variant R289T 866G>C CESC-US 12 117426499 117426499 single base substitution G C missense_variant R355T 1064G>C CESC-US 12 117426609 117426609 single base substitution G A downstream_gene_variant CESC-US 12 117426609 117426609 single base substitution G A missense_variant D326N 976G>A CESC-US 12 117426609 117426609 single base substitution G A missense_variant D392N 1174G>A CESC-US 12 117465245 117465245 single base substitution G A missense_variant A464T 1390G>A CESC-US 12 117465245 117465245 single base substitution G A missense_variant A530T 1588G>A CLLE-ES 12 117371474 117371474 single base substitution G A intron_variant CLLE-ES 12 117396779 117396779 single base substitution C T intron_variant CLLE-ES 12 117453403 117453403 single base substitution C T intron_variant CLLE-ES 12 117454955 117454955 single base substitution A T intron_variant CLLE-ES 12 117461418 117461418 single base substitution C T intron_variant CLLE-ES 12 117461611 117461611 single base substitution C T intron_variant COAD-US 12 117423201 117423201 single base substitution G A exon_variant COAD-US 12 117423201 117423201 single base substitution G A synonymous_variant P276P 828G>A COAD-US 12 117423201 117423201 single base substitution G A synonymous_variant P342P 1026G>A COAD-US 12 117448156 117448156 single base substitution G A missense_variant R357H 1070G>A COAD-US 12 117448156 117448156 single base substitution G A missense_variant R423H 1268G>A COAD-US 12 117461971 117461971 single base substitution C T missense_variant R397C 1189C>T COAD-US 12 117461971 117461971 single base substitution C T missense_variant R463C 1387C>T COAD-US 12 117461972 117461972 single base substitution G A missense_variant R397H 1190G>A COAD-US 12 117461972 117461972 single base substitution G A missense_variant R463H 1388G>A COCA-CN 12 117365819 117365819 single base substitution T C intron_variant COCA-CN 12 117426560 117426560 single base substitution C T downstream_gene_variant COCA-CN 12 117426560 117426560 single base substitution C T synonymous_variant D309D 927C>T COCA-CN 12 117426560 117426560 single base substitution C T synonymous_variant D375D 1125C>T COCA-CN 12 117462121 117462121 single base substitution T C missense_variant S447P 1339T>C COCA-CN 12 117462121 117462121 single base substitution T C missense_variant S513P 1537T>C ESAD-UK 12 117343922 117343922 single base substitution C A upstream_gene_variant ESAD-UK 12 117344238 117344238 insertion of <=200bp - AATAAATG upstream_gene_variant ESAD-UK 12 117344681 117344681 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 117345969 117345969 single base substitution G A upstream_gene_variant ESAD-UK 12 117346053 117346053 single base substitution T A upstream_gene_variant ESAD-UK 12 117347722 117347722 single base substitution A G upstream_gene_variant ESAD-UK 12 117347886 117347886 single base substitution A T upstream_gene_variant ESAD-UK 12 117348694 117348694 single base substitution G A upstream_gene_variant ESAD-UK 12 117353053 117353053 single base substitution C T intron_variant ESAD-UK 12 117354549 117354549 single base substitution C A intron_variant ESAD-UK 12 117359174 117359174 insertion of <=200bp - T intron_variant ESAD-UK 12 117363279 117363279 single base substitution A G intron_variant ESAD-UK 12 117363817 117363817 single base substitution G A intron_variant ESAD-UK 12 117369263 117369263 single base substitution C G intron_variant ESAD-UK 12 117371987 117371987 deletion of <=200bp T - intron_variant ESAD-UK 12 117372467 117372467 deletion of <=200bp A - intron_variant ESAD-UK 12 117373578 117373578 insertion of <=200bp - A intron_variant ESAD-UK 12 117376972 117376972 single base substitution A G intron_variant ESAD-UK 12 117378217 117378217 single base substitution G A intron_variant ESAD-UK 12 117378431 117378431 single base substitution G T intron_variant ESAD-UK 12 117380264 117380264 single base substitution C T intron_variant ESAD-UK 12 117384993 117384993 single base substitution G C intron_variant ESAD-UK 12 117386309 117386309 single base substitution G T intron_variant ESAD-UK 12 117386644 117386644 single base substitution T C intron_variant ESAD-UK 12 117392082 117392082 single base substitution G A intron_variant ESAD-UK 12 117392667 117392667 single base substitution C T intron_variant ESAD-UK 12 117393002 117393002 single base substitution G A intron_variant ESAD-UK 12 117393253 117393253 single base substitution A G intron_variant ESAD-UK 12 117393545 117393545 single base substitution C T intron_variant ESAD-UK 12 117393856 117393856 single base substitution T G intron_variant ESAD-UK 12 117399317 117399317 single base substitution G A intron_variant ESAD-UK 12 117399428 117399428 single base substitution C T intron_variant ESAD-UK 12 117401561 117401561 single base substitution T C intron_variant ESAD-UK 12 117405738 117405738 single base substitution A C intron_variant ESAD-UK 12 117406624 117406624 single base substitution A T intron_variant ESAD-UK 12 117408362 117408362 single base substitution C T intron_variant ESAD-UK 12 117409045 117409045 single base substitution T C intron_variant ESAD-UK 12 117409863 117409863 single base substitution G A intron_variant ESAD-UK 12 117411335 117411335 insertion of <=200bp - A intron_variant ESAD-UK 12 117411335 117411335 insertion of <=200bp - A upstream_gene_variant ESAD-UK 12 117413470 117413470 single base substitution A G intron_variant ESAD-UK 12 117413470 117413470 single base substitution A G upstream_gene_variant ESAD-UK 12 117413667 117413667 single base substitution G T intron_variant ESAD-UK 12 117413667 117413667 single base substitution G T upstream_gene_variant ESAD-UK 12 117420675 117420675 single base substitution C T intron_variant ESAD-UK 12 117423910 117423910 single base substitution C A downstream_gene_variant ESAD-UK 12 117423910 117423910 single base substitution C A intron_variant ESAD-UK 12 117426026 117426026 single base substitution T C downstream_gene_variant ESAD-UK 12 117426026 117426026 single base substitution T C intron_variant ESAD-UK 12 117426114 117426114 single base substitution C T downstream_gene_variant ESAD-UK 12 117426114 117426114 single base substitution C T intron_variant ESAD-UK 12 117426273 117426274 deletion of <=200bp TC - downstream_gene_variant ESAD-UK 12 117426273 117426274 deletion of <=200bp TC - intron_variant ESAD-UK 12 117427043 117427043 single base substitution T A downstream_gene_variant ESAD-UK 12 117427043 117427043 single base substitution T A intron_variant ESAD-UK 12 117427607 117427608 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 12 117427607 117427608 deletion of <=200bp TG - intron_variant ESAD-UK 12 117428802 117428802 single base substitution C A intron_variant ESAD-UK 12 117429985 117429985 single base substitution T A intron_variant ESAD-UK 12 117433730 117433730 single base substitution C A intron_variant ESAD-UK 12 117436399 117436399 single base substitution C T intron_variant ESAD-UK 12 117439018 117439018 single base substitution G A intron_variant ESAD-UK 12 117439575 117439575 single base substitution G A intron_variant ESAD-UK 12 117441367 117441367 single base substitution G C intron_variant ESAD-UK 12 117441813 117441813 single base substitution G A intron_variant ESAD-UK 12 117445123 117445123 insertion of <=200bp - A intron_variant ESAD-UK 12 117445217 117445217 single base substitution G T intron_variant ESAD-UK 12 117445630 117445630 single base substitution G A intron_variant ESAD-UK 12 117445834 117445834 insertion of <=200bp - C intron_variant ESAD-UK 12 117446433 117446433 single base substitution T C intron_variant ESAD-UK 12 117447059 117447059 single base substitution G A intron_variant ESAD-UK 12 117448158 117448158 single base substitution C T missense_variant R358C 1072C>T ESAD-UK 12 117448158 117448158 single base substitution C T missense_variant R424C 1270C>T ESAD-UK 12 117449574 117449574 single base substitution T C intron_variant ESAD-UK 12 117454129 117454129 single base substitution T C intron_variant ESAD-UK 12 117456271 117456271 single base substitution G A intron_variant ESAD-UK 12 117459295 117459296 deletion of <=200bp AT - intron_variant ESAD-UK 12 117459724 117459724 single base substitution G A intron_variant ESAD-UK 12 117461369 117461369 single base substitution A G intron_variant ESAD-UK 12 117461820 117461820 single base substitution A G intron_variant ESAD-UK 12 117462465 117462465 single base substitution A C intron_variant ESAD-UK 12 117462953 117462953 single base substitution G C intron_variant ESAD-UK 12 117463950 117463950 single base substitution C T intron_variant ESAD-UK 12 117466130 117466130 single base substitution G C 3_prime_UTR_variant ESAD-UK 12 117468040 117468040 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 117468040 117468040 single base substitution G A downstream_gene_variant ESAD-UK 12 117468224 117468224 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 117468224 117468224 single base substitution C T downstream_gene_variant ESAD-UK 12 117468405 117468405 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 117468405 117468405 single base substitution C T downstream_gene_variant ESAD-UK 12 117469114 117469114 single base substitution C T downstream_gene_variant ESAD-UK 12 117469285 117469285 single base substitution G A downstream_gene_variant ESAD-UK 12 117469570 117469570 single base substitution T C downstream_gene_variant ESAD-UK 12 117469584 117469584 single base substitution G A downstream_gene_variant ESAD-UK 12 117471619 117471619 single base substitution C A downstream_gene_variant ESAD-UK 12 117471895 117471895 single base substitution C T downstream_gene_variant ESAD-UK 12 117472821 117472821 single base substitution A T downstream_gene_variant ESCA-CN 12 117349065 117349065 single base substitution G C intron_variant ESCA-CN 12 117349065 117349065 single base substitution G C missense_variant E75Q 223G>C KIRC-US 12 117448164 117448164 single base substitution T A missense_variant L360M 1078T>A KIRC-US 12 117448164 117448164 single base substitution T A missense_variant L426M 1276T>A KIRC-US 12 117448166 117448166 single base substitution G A synonymous_variant L360L 1080G>A KIRC-US 12 117448166 117448166 single base substitution G A synonymous_variant L426L 1278G>A KIRC-US 12 117448167 117448167 single base substitution A C missense_variant K361Q 1081A>C KIRC-US 12 117448167 117448167 single base substitution A C missense_variant K427Q 1279A>C LAML-KR 12 117361526 117361526 single base substitution T A intron_variant LAML-KR 12 117375625 117375625 single base substitution C T intron_variant LAML-KR 12 117380196 117380196 single base substitution C T intron_variant LAML-KR 12 117448948 117448948 single base substitution G T intron_variant LAML-KR 12 117461875 117461875 single base substitution C T intron_variant LAML-KR 12 117462078 117462078 single base substitution C T synonymous_variant S432S 1296C>T LAML-KR 12 117462078 117462078 single base substitution C T synonymous_variant S498S 1494C>T LAML-KR 12 117464178 117464178 single base substitution C G intron_variant LAML-KR 12 117464224 117464224 single base substitution T C intron_variant LGG-US 12 117448196 117448196 single base substitution G A synonymous_variant T370T 1110G>A LGG-US 12 117448196 117448196 single base substitution G A synonymous_variant T436T 1308G>A LICA-FR 12 117368028 117368028 single base substitution A G intron_variant LICA-FR 12 117369064 117369064 single base substitution G A intron_variant LICA-FR 12 117376218 117376218 single base substitution T A intron_variant LICA-FR 12 117380229 117380229 single base substitution G C intron_variant LICA-FR 12 117383169 117383169 single base substitution G A missense_variant V142M 424G>A LICA-FR 12 117383169 117383169 single base substitution G A missense_variant V76M 226G>A LICA-FR 12 117386087 117386087 single base substitution T C intron_variant LICA-FR 12 117387998 117387998 single base substitution T C intron_variant LICA-FR 12 117394321 117394321 single base substitution A T intron_variant LICA-FR 12 117417583 117417584 deletion of <=200bp AA - intron_variant LICA-FR 12 117426624 117426624 single base substitution C A downstream_gene_variant LICA-FR 12 117426624 117426624 single base substitution C A missense_variant Q331K 991C>A LICA-FR 12 117426624 117426624 single base substitution C A missense_variant Q397K 1189C>A LICA-FR 12 117445568 117445568 single base substitution C T intron_variant LICA-FR 12 117472079 117472079 single base substitution T C downstream_gene_variant LIHC-US 12 117465265 117465265 single base substitution G A synonymous_variant T470T 1410G>A LIHC-US 12 117465265 117465265 single base substitution G A synonymous_variant T536T 1608G>A LINC-JP 12 117343774 117343774 single base substitution C T upstream_gene_variant LINC-JP 12 117352109 117352109 single base substitution C G intron_variant LINC-JP 12 117364492 117364492 single base substitution T C intron_variant LINC-JP 12 117366116 117366116 single base substitution G T intron_variant LINC-JP 12 117366117 117366117 single base substitution G T intron_variant LINC-JP 12 117367119 117367119 single base substitution A G intron_variant LINC-JP 12 117367355 117367355 single base substitution T A intron_variant LINC-JP 12 117367360 117367360 single base substitution A T intron_variant LINC-JP 12 117400291 117400291 insertion of <=200bp - G intron_variant LINC-JP 12 117442595 117442595 single base substitution T A intron_variant LINC-JP 12 117443097 117443097 single base substitution G A intron_variant LINC-JP 12 117448291 117448291 single base substitution A G intron_variant LINC-JP 12 117449997 117450002 deletion of <=200bp GGGAGG - intron_variant LINC-JP 12 117453736 117453736 single base substitution A G intron_variant LINC-JP 12 117456150 117456150 single base substitution A C intron_variant LINC-JP 12 117465850 117465850 single base substitution G A missense_variant R491H 1472G>A LINC-JP 12 117465850 117465850 single base substitution G A missense_variant R557H 1670G>A LINC-JP 12 117471836 117471836 deletion of <=200bp T - downstream_gene_variant LIRI-JP 12 117344135 117344135 single base substitution T C upstream_gene_variant LIRI-JP 12 117350674 117350674 single base substitution T C intron_variant LIRI-JP 12 117351054 117351054 single base substitution A G intron_variant LIRI-JP 12 117351691 117351691 single base substitution G T intron_variant LIRI-JP 12 117352854 117352854 single base substitution G T intron_variant LIRI-JP 12 117354876 117354876 single base substitution T G intron_variant LIRI-JP 12 117357084 117357084 single base substitution A G intron_variant LIRI-JP 12 117358467 117358467 single base substitution G A intron_variant LIRI-JP 12 117359766 117359766 single base substitution G A intron_variant LIRI-JP 12 117359767 117359767 single base substitution G T intron_variant LIRI-JP 12 117359780 117359780 single base substitution A G intron_variant LIRI-JP 12 117360329 117360329 single base substitution A G intron_variant LIRI-JP 12 117360868 117360868 single base substitution A G intron_variant LIRI-JP 12 117362837 117362837 single base substitution A G intron_variant LIRI-JP 12 117363015 117363015 single base substitution G C intron_variant LIRI-JP 12 117364257 117364257 single base substitution G A intron_variant LIRI-JP 12 117367594 117367594 single base substitution C A intron_variant LIRI-JP 12 117367617 117367617 single base substitution A T intron_variant LIRI-JP 12 117368117 117368117 single base substitution G C intron_variant LIRI-JP 12 117369871 117369871 single base substitution G T intron_variant LIRI-JP 12 117370980 117370980 single base substitution A G intron_variant LIRI-JP 12 117371374 117371374 single base substitution C T intron_variant LIRI-JP 12 117371786 117371786 single base substitution G C intron_variant LIRI-JP 12 117372363 117372363 single base substitution A G intron_variant LIRI-JP 12 117374913 117374913 single base substitution G C intron_variant LIRI-JP 12 117375103 117375103 single base substitution C G intron_variant LIRI-JP 12 117375841 117375841 single base substitution G T intron_variant LIRI-JP 12 117376776 117376776 single base substitution T G intron_variant LIRI-JP 12 117378446 117378446 single base substitution G T intron_variant LIRI-JP 12 117378833 117378833 single base substitution G A intron_variant LIRI-JP 12 117379609 117379609 single base substitution T G intron_variant LIRI-JP 12 117381726 117381726 single base substitution T G intron_variant LIRI-JP 12 117383080 117383080 single base substitution G A intron_variant LIRI-JP 12 117384074 117384074 single base substitution T G intron_variant LIRI-JP 12 117384207 117384207 single base substitution T G intron_variant LIRI-JP 12 117385083 117385083 single base substitution C T intron_variant LIRI-JP 12 117386839 117386839 single base substitution G T intron_variant LIRI-JP 12 117388123 117388123 single base substitution A G intron_variant LIRI-JP 12 117393108 117393108 single base substitution G A intron_variant LIRI-JP 12 117395583 117395583 single base substitution G A intron_variant LIRI-JP 12 117398179 117398213 deletion of <=200bp TTTAGTCTCAGTTCCTGTCAATACAGGAGACGTAG - intron_variant LIRI-JP 12 117398668 117398668 single base substitution A T intron_variant LIRI-JP 12 117399640 117399640 single base substitution A G intron_variant LIRI-JP 12 117402528 117402528 single base substitution G T missense_variant W169L 506G>T LIRI-JP 12 117402528 117402528 single base substitution G T missense_variant W235L 704G>T LIRI-JP 12 117402529 117402529 single base substitution G T missense_variant W169C 507G>T LIRI-JP 12 117402529 117402529 single base substitution G T missense_variant W235C 705G>T LIRI-JP 12 117403855 117403855 single base substitution A G intron_variant LIRI-JP 12 117406904 117406904 single base substitution A G intron_variant LIRI-JP 12 117407124 117407124 single base substitution G A intron_variant LIRI-JP 12 117410695 117410695 single base substitution G A intron_variant LIRI-JP 12 117414852 117414852 single base substitution C T intron_variant LIRI-JP 12 117414852 117414852 single base substitution C T upstream_gene_variant LIRI-JP 12 117416543 117416543 single base substitution C A intron_variant LIRI-JP 12 117417053 117417053 single base substitution T A intron_variant LIRI-JP 12 117418104 117418104 single base substitution C T intron_variant LIRI-JP 12 117418131 117418131 single base substitution C T intron_variant LIRI-JP 12 117418745 117418745 single base substitution A T intron_variant LIRI-JP 12 117419903 117419903 single base substitution A G intron_variant LIRI-JP 12 117423105 117423105 single base substitution C T exon_variant LIRI-JP 12 117423105 117423105 single base substitution C T synonymous_variant D244D 732C>T LIRI-JP 12 117423105 117423105 single base substitution C T synonymous_variant D310D 930C>T LIRI-JP 12 117423141 117423141 single base substitution C G exon_variant LIRI-JP 12 117423141 117423141 single base substitution C G synonymous_variant V256V 768C>G LIRI-JP 12 117423141 117423141 single base substitution C G synonymous_variant V322V 966C>G LIRI-JP 12 117424774 117424774 single base substitution C T downstream_gene_variant LIRI-JP 12 117424774 117424774 single base substitution C T intron_variant LIRI-JP 12 117426014 117426014 single base substitution A G downstream_gene_variant LIRI-JP 12 117426014 117426014 single base substitution A G intron_variant LIRI-JP 12 117427692 117427692 single base substitution T G downstream_gene_variant LIRI-JP 12 117427692 117427692 single base substitution T G intron_variant LIRI-JP 12 117427974 117427974 single base substitution G T downstream_gene_variant LIRI-JP 12 117427974 117427974 single base substitution G T intron_variant LIRI-JP 12 117429829 117429829 single base substitution A G intron_variant LIRI-JP 12 117429877 117429877 single base substitution T C intron_variant LIRI-JP 12 117431324 117431324 single base substitution G A intron_variant LIRI-JP 12 117431783 117431783 single base substitution A T intron_variant LIRI-JP 12 117436004 117436004 single base substitution A T intron_variant LIRI-JP 12 117436686 117436686 single base substitution A G intron_variant LIRI-JP 12 117438754 117438754 single base substitution T C intron_variant LIRI-JP 12 117438757 117438757 single base substitution T C intron_variant LIRI-JP 12 117438988 117438988 single base substitution A G intron_variant LIRI-JP 12 117439771 117439771 single base substitution G C intron_variant LIRI-JP 12 117444145 117444145 single base substitution A T intron_variant LIRI-JP 12 117445404 117445404 single base substitution G A intron_variant LIRI-JP 12 117446151 117446151 single base substitution T C intron_variant LIRI-JP 12 117446685 117446685 single base substitution C T intron_variant LIRI-JP 12 117453519 117453519 single base substitution C T intron_variant LIRI-JP 12 117453855 117453855 single base substitution A G intron_variant LIRI-JP 12 117459802 117459802 single base substitution C A intron_variant LIRI-JP 12 117460653 117460653 single base substitution T C intron_variant LIRI-JP 12 117462119 117462119 single base substitution A G missense_variant Y446C 1337A>G LIRI-JP 12 117462119 117462119 single base substitution A G missense_variant Y512C 1535A>G LIRI-JP 12 117463443 117463443 single base substitution T G intron_variant LIRI-JP 12 117464812 117464812 single base substitution T A intron_variant LIRI-JP 12 117465170 117465170 single base substitution C G intron_variant LIRI-JP 12 117467508 117467508 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 117467508 117467508 single base substitution G A downstream_gene_variant LUSC-KR 12 117344740 117344740 single base substitution C T upstream_gene_variant LUSC-KR 12 117354718 117354718 single base substitution A T intron_variant LUSC-KR 12 117357691 117357691 single base substitution A T intron_variant LUSC-KR 12 117359018 117359018 single base substitution A G intron_variant LUSC-KR 12 117359896 117359896 single base substitution A T intron_variant LUSC-KR 12 117364351 117364351 single base substitution A T intron_variant LUSC-KR 12 117364619 117364619 single base substitution T C intron_variant LUSC-KR 12 117370569 117370569 single base substitution C T intron_variant LUSC-KR 12 117371643 117371643 single base substitution G T intron_variant LUSC-KR 12 117372870 117372870 single base substitution A T intron_variant LUSC-KR 12 117384211 117384211 single base substitution A T intron_variant LUSC-KR 12 117387538 117387538 single base substitution C G intron_variant LUSC-KR 12 117393745 117393745 single base substitution C G intron_variant LUSC-KR 12 117402420 117402420 single base substitution G T intron_variant LUSC-KR 12 117403204 117403204 single base substitution A T intron_variant LUSC-KR 12 117405394 117405394 single base substitution A G intron_variant LUSC-KR 12 117407622 117407622 single base substitution G C intron_variant LUSC-KR 12 117416971 117416971 single base substitution G C intron_variant LUSC-KR 12 117422353 117422353 single base substitution G A intron_variant LUSC-KR 12 117427198 117427198 single base substitution G T downstream_gene_variant LUSC-KR 12 117427198 117427198 single base substitution G T intron_variant LUSC-KR 12 117429149 117429149 single base substitution C T intron_variant LUSC-KR 12 117429878 117429878 single base substitution C T intron_variant LUSC-KR 12 117434625 117434625 single base substitution G T intron_variant LUSC-KR 12 117436882 117436882 single base substitution C T intron_variant LUSC-KR 12 117437807 117437807 single base substitution G T intron_variant LUSC-KR 12 117440250 117440250 single base substitution G A intron_variant LUSC-KR 12 117440506 117440506 single base substitution G A intron_variant LUSC-KR 12 117444056 117444056 single base substitution G A intron_variant LUSC-KR 12 117446053 117446053 single base substitution C T intron_variant LUSC-KR 12 117449040 117449040 single base substitution G T intron_variant LUSC-KR 12 117449529 117449529 single base substitution G A intron_variant LUSC-KR 12 117450332 117450332 single base substitution T G intron_variant LUSC-KR 12 117453721 117453721 single base substitution T C intron_variant LUSC-KR 12 117455323 117455323 single base substitution G T intron_variant LUSC-KR 12 117464224 117464224 single base substitution T C intron_variant LUSC-KR 12 117465264 117465264 single base substitution C T missense_variant T470M 1409C>T LUSC-KR 12 117465264 117465264 single base substitution C T missense_variant T536M 1607C>T LUSC-KR 12 117465370 117465370 single base substitution A C intron_variant LUSC-KR 12 117467339 117467339 single base substitution G T 3_prime_UTR_variant LUSC-KR 12 117467339 117467339 single base substitution G T downstream_gene_variant LUSC-US 12 117402577 117402577 single base substitution C T synonymous_variant D185D 555C>T LUSC-US 12 117402577 117402577 single base substitution C T synonymous_variant D251D 753C>T LUSC-US 12 117448145 117448145 single base substitution G T synonymous_variant L353L 1059G>T LUSC-US 12 117448145 117448145 single base substitution G T synonymous_variant L419L 1257G>T LUSC-US 12 117448146 117448146 single base substitution G A missense_variant E354K 1060G>A LUSC-US 12 117448146 117448146 single base substitution G A missense_variant E420K 1258G>A LUSC-US 12 117465849 117465849 single base substitution C T missense_variant R491C 1471C>T LUSC-US 12 117465849 117465849 single base substitution C T missense_variant R557C 1669C>T MALY-DE 12 117345873 117345873 deletion of <=200bp T - upstream_gene_variant MALY-DE 12 117347885 117347885 single base substitution A T upstream_gene_variant MALY-DE 12 117354425 117354425 single base substitution G A intron_variant MALY-DE 12 117360595 117360595 single base substitution C T intron_variant MALY-DE 12 117361526 117361526 single base substitution T A intron_variant MALY-DE 12 117398296 117398296 single base substitution G A intron_variant MALY-DE 12 117411390 117411390 single base substitution T C intron_variant MALY-DE 12 117411390 117411390 single base substitution T C upstream_gene_variant MALY-DE 12 117415797 117415797 single base substitution G C intron_variant MALY-DE 12 117415797 117415797 single base substitution G C upstream_gene_variant MALY-DE 12 117421342 117421342 single base substitution A T intron_variant MALY-DE 12 117424680 117424680 single base substitution A G downstream_gene_variant MALY-DE 12 117424680 117424680 single base substitution A G intron_variant MALY-DE 12 117426642 117426642 single base substitution C T downstream_gene_variant MALY-DE 12 117426642 117426642 single base substitution C T stop_gained Q337* 1009C>T MALY-DE 12 117426642 117426642 single base substitution C T stop_gained Q403* 1207C>T MALY-DE 12 117436157 117436157 single base substitution A T intron_variant MALY-DE 12 117436967 117436967 single base substitution A G intron_variant MALY-DE 12 117438992 117438992 single base substitution C G intron_variant MALY-DE 12 117442573 117442589 deletion of <=200bp TCTCCTGTTTCCCCAGC - intron_variant MALY-DE 12 117449442 117449442 single base substitution G A intron_variant MALY-DE 12 117452264 117452264 single base substitution G C intron_variant MALY-DE 12 117463750 117463750 single base substitution G C intron_variant MALY-DE 12 117465029 117465029 single base substitution C T intron_variant MALY-DE 12 117466076 117466076 single base substitution G T 3_prime_UTR_variant MALY-DE 12 117468508 117468508 single base substitution G A 3_prime_UTR_variant MALY-DE 12 117468508 117468508 single base substitution G A downstream_gene_variant MALY-DE 12 117469144 117469144 single base substitution A T downstream_gene_variant MALY-DE 12 117471656 117471656 single base substitution G A downstream_gene_variant MALY-DE 12 117472268 117472268 single base substitution G A downstream_gene_variant MELA-AU 12 117343837 117343837 single base substitution G A upstream_gene_variant MELA-AU 12 117343982 117343982 single base substitution C T upstream_gene_variant MELA-AU 12 117344309 117344309 single base substitution G A upstream_gene_variant MELA-AU 12 117344619 117344620 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 117344838 117344838 single base substitution G A upstream_gene_variant MELA-AU 12 117345406 117345406 single base substitution C T upstream_gene_variant MELA-AU 12 117345584 117345584 single base substitution G A upstream_gene_variant MELA-AU 12 117345828 117345828 single base substitution G A upstream_gene_variant MELA-AU 12 117345860 117345860 single base substitution G A upstream_gene_variant MELA-AU 12 117345881 117345881 single base substitution A C upstream_gene_variant MELA-AU 12 117346149 117346149 single base substitution C T upstream_gene_variant MELA-AU 12 117346156 117346156 single base substitution G A upstream_gene_variant MELA-AU 12 117346383 117346383 single base substitution G A upstream_gene_variant MELA-AU 12 117346910 117346910 single base substitution G A upstream_gene_variant MELA-AU 12 117347427 117347427 single base substitution C T upstream_gene_variant MELA-AU 12 117347729 117347729 single base substitution C T upstream_gene_variant MELA-AU 12 117348726 117348726 single base substitution G A upstream_gene_variant MELA-AU 12 117349798 117349798 single base substitution C T intron_variant MELA-AU 12 117350240 117350240 single base substitution C T intron_variant MELA-AU 12 117351671 117351671 single base substitution T G intron_variant MELA-AU 12 117352714 117352714 single base substitution C T intron_variant MELA-AU 12 117353190 117353190 single base substitution T A intron_variant MELA-AU 12 117353550 117353550 single base substitution C T intron_variant MELA-AU 12 117353697 117353697 single base substitution C T intron_variant MELA-AU 12 117354216 117354216 single base substitution C T intron_variant MELA-AU 12 117354718 117354718 single base substitution A T intron_variant MELA-AU 12 117354720 117354720 single base substitution A T intron_variant MELA-AU 12 117355198 117355198 single base substitution C T intron_variant MELA-AU 12 117355810 117355810 single base substitution C A intron_variant MELA-AU 12 117356198 117356198 single base substitution T C intron_variant MELA-AU 12 117356206 117356206 single base substitution C T intron_variant MELA-AU 12 117357556 117357556 single base substitution T C intron_variant MELA-AU 12 117359037 117359037 single base substitution C T intron_variant MELA-AU 12 117359978 117359978 single base substitution C T intron_variant MELA-AU 12 117360437 117360437 single base substitution C T intron_variant MELA-AU 12 117360459 117360459 single base substitution T C intron_variant MELA-AU 12 117361526 117361526 single base substitution T A intron_variant MELA-AU 12 117361696 117361696 single base substitution T C intron_variant MELA-AU 12 117362145 117362145 single base substitution G A intron_variant MELA-AU 12 117364000 117364000 single base substitution G A intron_variant MELA-AU 12 117364070 117364070 single base substitution G A intron_variant MELA-AU 12 117364610 117364610 single base substitution T A intron_variant MELA-AU 12 117365471 117365471 single base substitution C T intron_variant MELA-AU 12 117365665 117365665 single base substitution C A intron_variant MELA-AU 12 117365698 117365699 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117365966 117365966 single base substitution C T intron_variant MELA-AU 12 117366216 117366216 single base substitution C T intron_variant MELA-AU 12 117366328 117366328 single base substitution G A intron_variant MELA-AU 12 117367074 117367074 single base substitution C T intron_variant MELA-AU 12 117367108 117367108 single base substitution C T intron_variant MELA-AU 12 117367917 117367917 single base substitution T A intron_variant MELA-AU 12 117368543 117368543 single base substitution C T intron_variant MELA-AU 12 117368953 117368953 single base substitution C T intron_variant MELA-AU 12 117369210 117369210 single base substitution C T intron_variant MELA-AU 12 117369558 117369558 single base substitution G A intron_variant MELA-AU 12 117369996 117369996 single base substitution C T intron_variant MELA-AU 12 117370108 117370108 single base substitution C T intron_variant MELA-AU 12 117370572 117370572 single base substitution C T intron_variant MELA-AU 12 117370907 117370907 single base substitution C T intron_variant MELA-AU 12 117370908 117370908 single base substitution C T intron_variant MELA-AU 12 117371566 117371566 single base substitution A T intron_variant MELA-AU 12 117372488 117372488 single base substitution C T intron_variant MELA-AU 12 117372885 117372885 single base substitution G A intron_variant MELA-AU 12 117372986 117372986 single base substitution A G intron_variant MELA-AU 12 117373172 117373172 single base substitution A T intron_variant MELA-AU 12 117373174 117373174 single base substitution T C intron_variant MELA-AU 12 117374073 117374073 single base substitution C T intron_variant MELA-AU 12 117374754 117374754 single base substitution G T intron_variant MELA-AU 12 117375897 117375897 single base substitution G A intron_variant MELA-AU 12 117376133 117376133 single base substitution T G intron_variant MELA-AU 12 117377238 117377238 single base substitution C T intron_variant MELA-AU 12 117377268 117377268 single base substitution C T intron_variant MELA-AU 12 117377447 117377447 single base substitution C T intron_variant MELA-AU 12 117377490 117377490 single base substitution C T intron_variant MELA-AU 12 117377984 117377984 single base substitution C T intron_variant MELA-AU 12 117378819 117378819 single base substitution T C intron_variant MELA-AU 12 117380133 117380133 single base substitution C T intron_variant MELA-AU 12 117380498 117380498 single base substitution C T intron_variant MELA-AU 12 117381481 117381481 single base substitution C T intron_variant MELA-AU 12 117381562 117381563 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117382037 117382037 single base substitution C T intron_variant MELA-AU 12 117382202 117382202 single base substitution C T intron_variant MELA-AU 12 117382835 117382835 single base substitution C T intron_variant MELA-AU 12 117383231 117383231 single base substitution G A synonymous_variant Q162Q 486G>A MELA-AU 12 117383231 117383231 single base substitution G A synonymous_variant Q96Q 288G>A MELA-AU 12 117383434 117383434 single base substitution G A intron_variant MELA-AU 12 117384411 117384411 single base substitution C G intron_variant MELA-AU 12 117384411 117384411 single base substitution C T intron_variant MELA-AU 12 117384892 117384892 single base substitution C T intron_variant MELA-AU 12 117385371 117385371 single base substitution C T intron_variant MELA-AU 12 117386100 117386100 single base substitution A T intron_variant MELA-AU 12 117386138 117386138 single base substitution C T intron_variant MELA-AU 12 117386422 117386422 single base substitution C T intron_variant MELA-AU 12 117386756 117386756 single base substitution C T intron_variant MELA-AU 12 117387490 117387490 single base substitution A C missense_variant H153P 458A>C MELA-AU 12 117387490 117387490 single base substitution A C missense_variant H219P 656A>C MELA-AU 12 117387938 117387938 single base substitution C T intron_variant MELA-AU 12 117389049 117389049 single base substitution C T intron_variant MELA-AU 12 117389865 117389865 single base substitution C T intron_variant MELA-AU 12 117390633 117390633 single base substitution C T intron_variant MELA-AU 12 117390665 117390665 single base substitution C T intron_variant MELA-AU 12 117391549 117391549 single base substitution G A intron_variant MELA-AU 12 117392093 117392093 single base substitution C T intron_variant MELA-AU 12 117392268 117392268 single base substitution C T intron_variant MELA-AU 12 117392475 117392475 single base substitution G C intron_variant MELA-AU 12 117393568 117393568 single base substitution C T intron_variant MELA-AU 12 117393584 117393584 single base substitution T C intron_variant MELA-AU 12 117395453 117395454 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117395548 117395548 single base substitution T C intron_variant MELA-AU 12 117395665 117395665 single base substitution T C intron_variant MELA-AU 12 117396044 117396044 single base substitution T C intron_variant MELA-AU 12 117396761 117396761 single base substitution G T intron_variant MELA-AU 12 117396884 117396884 single base substitution G A intron_variant MELA-AU 12 117398020 117398020 single base substitution C T intron_variant MELA-AU 12 117398098 117398098 single base substitution C T intron_variant MELA-AU 12 117398354 117398354 single base substitution C T intron_variant MELA-AU 12 117398749 117398749 single base substitution G A intron_variant MELA-AU 12 117398906 117398906 single base substitution T A intron_variant MELA-AU 12 117399846 117399846 single base substitution T G intron_variant MELA-AU 12 117401485 117401485 single base substitution C T intron_variant MELA-AU 12 117401586 117401586 single base substitution C T intron_variant MELA-AU 12 117401666 117401666 single base substitution C T intron_variant MELA-AU 12 117402562 117402562 single base substitution C T synonymous_variant F180F 540C>T MELA-AU 12 117402562 117402562 single base substitution C T synonymous_variant F246F 738C>T MELA-AU 12 117402748 117402748 single base substitution C T intron_variant MELA-AU 12 117402812 117402825 deletion of <=200bp GAAGAAGTTGGCCA - intron_variant MELA-AU 12 117402887 117402887 single base substitution C A intron_variant MELA-AU 12 117402887 117402887 single base substitution C T intron_variant MELA-AU 12 117403389 117403389 single base substitution T C intron_variant MELA-AU 12 117404321 117404321 single base substitution C T intron_variant MELA-AU 12 117404589 117404589 single base substitution G A intron_variant MELA-AU 12 117404629 117404629 single base substitution C T intron_variant MELA-AU 12 117405411 117405411 single base substitution C T intron_variant MELA-AU 12 117405478 117405478 single base substitution T A intron_variant MELA-AU 12 117405695 117405695 single base substitution C T intron_variant MELA-AU 12 117406359 117406359 single base substitution C T intron_variant MELA-AU 12 117406564 117406564 single base substitution G A intron_variant MELA-AU 12 117406851 117406852 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 117407090 117407090 single base substitution C T intron_variant MELA-AU 12 117407132 117407132 single base substitution C T intron_variant MELA-AU 12 117407755 117407755 single base substitution T C intron_variant MELA-AU 12 117407898 117407898 single base substitution C T intron_variant MELA-AU 12 117407939 117407939 single base substitution G A intron_variant MELA-AU 12 117407963 117407963 single base substitution C T intron_variant MELA-AU 12 117408065 117408065 single base substitution C T intron_variant MELA-AU 12 117408897 117408897 single base substitution C T intron_variant MELA-AU 12 117409796 117409796 single base substitution G T intron_variant MELA-AU 12 117409877 117409877 single base substitution T A intron_variant MELA-AU 12 117410170 117410171 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117410469 117410469 single base substitution C T intron_variant MELA-AU 12 117410653 117410653 single base substitution T G intron_variant MELA-AU 12 117410941 117410941 single base substitution A T intron_variant MELA-AU 12 117410941 117410941 single base substitution A T upstream_gene_variant MELA-AU 12 117411084 117411084 single base substitution C T intron_variant MELA-AU 12 117411084 117411084 single base substitution C T upstream_gene_variant MELA-AU 12 117411206 117411206 single base substitution T A intron_variant MELA-AU 12 117411206 117411206 single base substitution T A upstream_gene_variant MELA-AU 12 117413612 117413612 single base substitution G T intron_variant MELA-AU 12 117413612 117413612 single base substitution G T upstream_gene_variant MELA-AU 12 117413716 117413716 single base substitution C T intron_variant MELA-AU 12 117413716 117413716 single base substitution C T upstream_gene_variant MELA-AU 12 117415549 117415549 single base substitution C T intron_variant MELA-AU 12 117415549 117415549 single base substitution C T upstream_gene_variant MELA-AU 12 117415565 117415565 single base substitution C T intron_variant MELA-AU 12 117415565 117415565 single base substitution C T upstream_gene_variant MELA-AU 12 117415566 117415566 single base substitution C T intron_variant MELA-AU 12 117415566 117415566 single base substitution C T upstream_gene_variant MELA-AU 12 117415600 117415600 single base substitution C T intron_variant MELA-AU 12 117415600 117415600 single base substitution C T upstream_gene_variant MELA-AU 12 117415829 117415829 single base substitution C T intron_variant MELA-AU 12 117415829 117415829 single base substitution C T upstream_gene_variant MELA-AU 12 117416169 117416169 single base substitution T C exon_variant MELA-AU 12 117416169 117416169 single base substitution T C intron_variant MELA-AU 12 117416477 117416477 single base substitution T A intron_variant MELA-AU 12 117416753 117416753 single base substitution T C intron_variant MELA-AU 12 117416819 117416819 single base substitution T C intron_variant MELA-AU 12 117417676 117417676 single base substitution T G intron_variant MELA-AU 12 117418462 117418462 single base substitution C T intron_variant MELA-AU 12 117419878 117419878 single base substitution C T intron_variant MELA-AU 12 117420418 117420418 single base substitution G A intron_variant MELA-AU 12 117420435 117420435 single base substitution T C intron_variant MELA-AU 12 117421747 117421747 single base substitution C T intron_variant MELA-AU 12 117422709 117422709 single base substitution C T intron_variant MELA-AU 12 117423437 117423437 single base substitution G A downstream_gene_variant MELA-AU 12 117423437 117423437 single base substitution G A intron_variant MELA-AU 12 117424659 117424660 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 12 117424659 117424660 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 12 117424834 117424834 single base substitution C T downstream_gene_variant MELA-AU 12 117424834 117424834 single base substitution C T intron_variant MELA-AU 12 117425649 117425649 single base substitution C T downstream_gene_variant MELA-AU 12 117425649 117425649 single base substitution C T intron_variant MELA-AU 12 117425778 117425779 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 12 117425778 117425779 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 12 117425846 117425846 single base substitution C T downstream_gene_variant MELA-AU 12 117425846 117425846 single base substitution C T intron_variant MELA-AU 12 117426202 117426202 single base substitution C T downstream_gene_variant MELA-AU 12 117426202 117426202 single base substitution C T intron_variant MELA-AU 12 117427579 117427579 single base substitution G A downstream_gene_variant MELA-AU 12 117427579 117427579 single base substitution G A intron_variant MELA-AU 12 117427653 117427653 single base substitution C T downstream_gene_variant MELA-AU 12 117427653 117427653 single base substitution C T intron_variant MELA-AU 12 117427654 117427654 single base substitution C T downstream_gene_variant MELA-AU 12 117427654 117427654 single base substitution C T intron_variant MELA-AU 12 117429115 117429115 single base substitution C T intron_variant MELA-AU 12 117429276 117429276 single base substitution C T intron_variant MELA-AU 12 117431181 117431181 single base substitution A G intron_variant MELA-AU 12 117431281 117431281 single base substitution C T intron_variant MELA-AU 12 117432743 117432743 single base substitution A T intron_variant MELA-AU 12 117433032 117433033 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117433703 117433703 single base substitution C T intron_variant MELA-AU 12 117433727 117433727 single base substitution C T intron_variant MELA-AU 12 117433730 117433730 single base substitution C T intron_variant MELA-AU 12 117433731 117433731 single base substitution C T intron_variant MELA-AU 12 117434152 117434152 single base substitution A T intron_variant MELA-AU 12 117434494 117434494 single base substitution G A intron_variant MELA-AU 12 117434879 117434879 single base substitution C T intron_variant MELA-AU 12 117435367 117435367 single base substitution C T intron_variant MELA-AU 12 117435485 117435485 single base substitution C T intron_variant MELA-AU 12 117436237 117436237 single base substitution T C intron_variant MELA-AU 12 117436319 117436319 single base substitution C T intron_variant MELA-AU 12 117436369 117436369 single base substitution C T intron_variant MELA-AU 12 117436798 117436798 single base substitution C G intron_variant MELA-AU 12 117437370 117437370 single base substitution C T intron_variant MELA-AU 12 117437909 117437909 single base substitution C T intron_variant MELA-AU 12 117438000 117438000 single base substitution C T intron_variant MELA-AU 12 117438534 117438534 single base substitution C T intron_variant MELA-AU 12 117438851 117438852 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117439042 117439042 single base substitution G A intron_variant MELA-AU 12 117439620 117439620 single base substitution C T intron_variant MELA-AU 12 117439910 117439910 single base substitution C T intron_variant MELA-AU 12 117440043 117440043 single base substitution G T intron_variant MELA-AU 12 117440177 117440177 single base substitution C T intron_variant MELA-AU 12 117440546 117440546 single base substitution C T intron_variant MELA-AU 12 117440747 117440747 single base substitution C T intron_variant MELA-AU 12 117441452 117441453 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117441867 117441868 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117442071 117442071 single base substitution C T intron_variant MELA-AU 12 117442457 117442457 single base substitution G A intron_variant MELA-AU 12 117442574 117442574 single base substitution C T intron_variant MELA-AU 12 117442638 117442638 single base substitution C T intron_variant MELA-AU 12 117443961 117443961 single base substitution T C intron_variant MELA-AU 12 117444133 117444133 single base substitution C T intron_variant MELA-AU 12 117444584 117444584 single base substitution C T intron_variant MELA-AU 12 117444975 117444975 single base substitution G A intron_variant MELA-AU 12 117444986 117444986 single base substitution C T intron_variant MELA-AU 12 117444995 117444995 single base substitution C T intron_variant MELA-AU 12 117445429 117445429 single base substitution C T intron_variant MELA-AU 12 117445933 117445933 single base substitution G A intron_variant MELA-AU 12 117446342 117446342 single base substitution C T intron_variant MELA-AU 12 117446406 117446406 single base substitution G A intron_variant MELA-AU 12 117447197 117447197 single base substitution C T intron_variant MELA-AU 12 117447358 117447358 single base substitution G T intron_variant MELA-AU 12 117447696 117447696 single base substitution C T intron_variant MELA-AU 12 117447771 117447771 single base substitution C T intron_variant MELA-AU 12 117447805 117447805 single base substitution C G intron_variant MELA-AU 12 117448908 117448908 single base substitution T G intron_variant MELA-AU 12 117448923 117448923 single base substitution T C intron_variant MELA-AU 12 117449028 117449028 single base substitution C T intron_variant MELA-AU 12 117449029 117449029 single base substitution C T intron_variant MELA-AU 12 117449030 117449030 single base substitution C T intron_variant MELA-AU 12 117449085 117449085 single base substitution C T intron_variant MELA-AU 12 117449422 117449422 single base substitution C T intron_variant MELA-AU 12 117451036 117451036 single base substitution G A intron_variant MELA-AU 12 117451694 117451694 single base substitution G A intron_variant MELA-AU 12 117452727 117452727 single base substitution C T intron_variant MELA-AU 12 117452786 117452786 single base substitution C T intron_variant MELA-AU 12 117453628 117453628 single base substitution C T intron_variant MELA-AU 12 117454050 117454050 single base substitution C T intron_variant MELA-AU 12 117454479 117454479 single base substitution C T intron_variant MELA-AU 12 117454650 117454650 single base substitution C T intron_variant MELA-AU 12 117454765 117454766 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117454987 117454987 single base substitution C T intron_variant MELA-AU 12 117455652 117455652 single base substitution C T intron_variant MELA-AU 12 117455800 117455800 single base substitution T C intron_variant MELA-AU 12 117455927 117455927 single base substitution G A intron_variant MELA-AU 12 117456231 117456231 single base substitution C T intron_variant MELA-AU 12 117456464 117456464 single base substitution C T intron_variant MELA-AU 12 117456508 117456508 single base substitution C T intron_variant MELA-AU 12 117456656 117456656 single base substitution C T intron_variant MELA-AU 12 117456707 117456708 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 12 117456802 117456802 single base substitution C T intron_variant MELA-AU 12 117456974 117456974 single base substitution C T intron_variant MELA-AU 12 117457404 117457404 single base substitution G A intron_variant MELA-AU 12 117457550 117457551 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117458528 117458528 single base substitution C T intron_variant MELA-AU 12 117459218 117459218 single base substitution C T intron_variant MELA-AU 12 117459333 117459334 deletion of <=200bp TG - intron_variant MELA-AU 12 117459574 117459574 single base substitution C T intron_variant MELA-AU 12 117459682 117459682 single base substitution C T intron_variant MELA-AU 12 117460026 117460026 single base substitution C T intron_variant MELA-AU 12 117460343 117460343 single base substitution C T intron_variant MELA-AU 12 117461522 117461522 single base substitution C T intron_variant MELA-AU 12 117462077 117462077 single base substitution C T missense_variant S432F 1295C>T MELA-AU 12 117462077 117462077 single base substitution C T missense_variant S498F 1493C>T MELA-AU 12 117462106 117462106 single base substitution C T synonymous_variant L442L 1324C>T MELA-AU 12 117462106 117462106 single base substitution C T synonymous_variant L508L 1522C>T MELA-AU 12 117462157 117462157 single base substitution C T intron_variant MELA-AU 12 117462454 117462454 single base substitution C T intron_variant MELA-AU 12 117463107 117463107 single base substitution C T intron_variant MELA-AU 12 117463341 117463342 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 117463532 117463532 single base substitution G A intron_variant MELA-AU 12 117464030 117464030 single base substitution C T intron_variant MELA-AU 12 117464124 117464124 single base substitution C T intron_variant MELA-AU 12 117464224 117464224 single base substitution T C intron_variant MELA-AU 12 117464649 117464649 single base substitution C T intron_variant MELA-AU 12 117464899 117464899 single base substitution C T intron_variant MELA-AU 12 117465339 117465339 single base substitution C T intron_variant MELA-AU 12 117465395 117465395 single base substitution C T intron_variant MELA-AU 12 117465501 117465501 single base substitution C T intron_variant MELA-AU 12 117465849 117465849 single base substitution C T missense_variant R491C 1471C>T MELA-AU 12 117465849 117465849 single base substitution C T missense_variant R557C 1669C>T MELA-AU 12 117465961 117465961 single base substitution C T missense_variant P528L 1583C>T MELA-AU 12 117465961 117465961 single base substitution C T missense_variant P594L 1781C>T MELA-AU 12 117466373 117466373 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117467735 117467735 single base substitution A T 3_prime_UTR_variant MELA-AU 12 117467735 117467735 single base substitution A T downstream_gene_variant MELA-AU 12 117468002 117468002 single base substitution T A 3_prime_UTR_variant MELA-AU 12 117468002 117468002 single base substitution T A downstream_gene_variant MELA-AU 12 117468484 117468484 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117468484 117468484 single base substitution C T downstream_gene_variant MELA-AU 12 117468520 117468520 single base substitution C T 3_prime_UTR_variant MELA-AU 12 117468520 117468520 single base substitution C T downstream_gene_variant MELA-AU 12 117470019 117470019 single base substitution C T downstream_gene_variant MELA-AU 12 117470293 117470293 single base substitution C T downstream_gene_variant MELA-AU 12 117470534 117470534 single base substitution C T downstream_gene_variant MELA-AU 12 117470606 117470606 single base substitution C T downstream_gene_variant MELA-AU 12 117471212 117471212 single base substitution C T downstream_gene_variant MELA-AU 12 117471278 117471278 single base substitution C T downstream_gene_variant MELA-AU 12 117471393 117471393 single base substitution C T downstream_gene_variant MELA-AU 12 117471727 117471727 single base substitution C T downstream_gene_variant MELA-AU 12 117472533 117472533 single base substitution C T downstream_gene_variant MELA-AU 12 117473247 117473247 single base substitution G A downstream_gene_variant MELA-AU 12 117473272 117473272 single base substitution G A downstream_gene_variant MELA-AU 12 117473420 117473420 single base substitution C T downstream_gene_variant MELA-AU 12 117473582 117473582 single base substitution C T downstream_gene_variant ORCA-IN 12 117380471 117380471 single base substitution G A intron_variant ORCA-IN 12 117405729 117405729 single base substitution G A intron_variant ORCA-IN 12 117425952 117425952 single base substitution C G downstream_gene_variant ORCA-IN 12 117425952 117425952 single base substitution C G intron_variant ORCA-IN 12 117426624 117426624 single base substitution C A downstream_gene_variant ORCA-IN 12 117426624 117426624 single base substitution C A missense_variant Q331K 991C>A ORCA-IN 12 117426624 117426624 single base substitution C A missense_variant Q397K 1189C>A OV-AU 12 117353611 117353611 single base substitution C A intron_variant OV-AU 12 117355215 117355215 single base substitution C A intron_variant OV-AU 12 117355447 117355447 single base substitution A C intron_variant OV-AU 12 117361530 117361530 single base substitution T A intron_variant OV-AU 12 117362454 117362454 single base substitution G T intron_variant OV-AU 12 117377344 117377344 single base substitution C T intron_variant OV-AU 12 117389343 117389343 single base substitution T C intron_variant OV-AU 12 117391044 117391044 single base substitution T C intron_variant OV-AU 12 117398088 117398088 single base substitution A T intron_variant OV-AU 12 117398505 117398505 single base substitution T G intron_variant OV-AU 12 117399407 117399407 single base substitution G A intron_variant OV-AU 12 117405629 117405629 single base substitution T C intron_variant OV-AU 12 117410389 117410389 single base substitution A T intron_variant OV-AU 12 117419474 117419474 single base substitution A T intron_variant OV-AU 12 117426384 117426384 single base substitution C A downstream_gene_variant OV-AU 12 117426384 117426384 single base substitution C A intron_variant OV-AU 12 117427315 117427315 single base substitution A G downstream_gene_variant OV-AU 12 117427315 117427315 single base substitution A G intron_variant OV-AU 12 117428555 117428555 single base substitution T C intron_variant OV-AU 12 117438522 117438522 single base substitution G C intron_variant OV-AU 12 117444911 117444911 single base substitution G A intron_variant OV-AU 12 117448733 117448733 single base substitution C T intron_variant OV-AU 12 117459814 117459814 single base substitution G T intron_variant OV-AU 12 117467727 117467727 single base substitution T A 3_prime_UTR_variant OV-AU 12 117467727 117467727 single base substitution T A downstream_gene_variant OV-AU 12 117470527 117470527 single base substitution A G downstream_gene_variant OV-US 12 117365883 117365883 single base substitution T C missense_variant I125T 374T>C OV-US 12 117365883 117365883 single base substitution T C missense_variant I59T 176T>C PACA-AU 12 117347880 117347880 insertion of <=200bp - T upstream_gene_variant PACA-AU 12 117349436 117349436 deletion of <=200bp G - intron_variant PACA-AU 12 117357338 117357338 single base substitution A G intron_variant PACA-AU 12 117357618 117357618 single base substitution C G intron_variant PACA-AU 12 117357628 117357628 deletion of <=200bp T - intron_variant PACA-AU 12 117361522 117361522 single base substitution A T intron_variant PACA-AU 12 117362322 117362322 single base substitution C A intron_variant PACA-AU 12 117364070 117364070 single base substitution G T intron_variant PACA-AU 12 117376925 117376925 deletion of <=200bp A - intron_variant PACA-AU 12 117379560 117379560 single base substitution A G intron_variant PACA-AU 12 117391451 117391451 single base substitution G A intron_variant PACA-AU 12 117392053 117392053 single base substitution C G intron_variant PACA-AU 12 117403343 117403352 deletion of <=200bp GAAGTGTTGA - intron_variant PACA-AU 12 117409064 117409064 single base substitution T A intron_variant PACA-AU 12 117413391 117413391 single base substitution G A intron_variant PACA-AU 12 117413391 117413391 single base substitution G A upstream_gene_variant PACA-AU 12 117419149 117419149 single base substitution A T intron_variant PACA-AU 12 117420241 117420241 single base substitution C T intron_variant PACA-AU 12 117429175 117429175 single base substitution G A intron_variant PACA-AU 12 117429870 117429870 single base substitution A G intron_variant PACA-AU 12 117435568 117435568 single base substitution G A intron_variant PACA-AU 12 117438422 117438422 deletion of <=200bp T - intron_variant PACA-AU 12 117438777 117438777 single base substitution G C intron_variant PACA-AU 12 117439728 117439728 single base substitution G T intron_variant PACA-AU 12 117439729 117439729 single base substitution C T intron_variant PACA-AU 12 117441466 117441466 single base substitution T C intron_variant PACA-AU 12 117442524 117442524 single base substitution C G intron_variant PACA-AU 12 117444322 117444322 single base substitution G A intron_variant PACA-AU 12 117444353 117444353 single base substitution C T intron_variant PACA-AU 12 117446202 117446202 single base substitution C T intron_variant PACA-AU 12 117452398 117452398 single base substitution G T intron_variant PACA-AU 12 117457015 117457015 single base substitution C T intron_variant PACA-AU 12 117457681 117457681 single base substitution A C intron_variant PACA-AU 12 117460376 117460376 single base substitution C T intron_variant PACA-AU 12 117463133 117463133 single base substitution C T intron_variant PACA-AU 12 117463619 117463619 single base substitution C G intron_variant PACA-AU 12 117466140 117466140 single base substitution C T 3_prime_UTR_variant PACA-AU 12 117470028 117470028 single base substitution T C downstream_gene_variant PACA-AU 12 117471443 117471443 single base substitution G A downstream_gene_variant PACA-CA 12 117344537 117344537 single base substitution T C upstream_gene_variant PACA-CA 12 117347908 117347908 single base substitution G C upstream_gene_variant PACA-CA 12 117352172 117352179 deletion of <=200bp GAGCTCAG - intron_variant PACA-CA 12 117353570 117353570 single base substitution G A intron_variant PACA-CA 12 117356262 117356262 single base substitution C T intron_variant PACA-CA 12 117358058 117358058 single base substitution C A intron_variant PACA-CA 12 117361526 117361526 single base substitution T A intron_variant PACA-CA 12 117363712 117363712 single base substitution C T intron_variant PACA-CA 12 117364166 117364166 single base substitution C T intron_variant PACA-CA 12 117371987 117371987 deletion of <=200bp T - intron_variant PACA-CA 12 117373697 117373697 single base substitution A T intron_variant PACA-CA 12 117373912 117373912 single base substitution G T intron_variant PACA-CA 12 117377406 117377406 single base substitution C T intron_variant PACA-CA 12 117378787 117378787 single base substitution G C intron_variant PACA-CA 12 117378879 117378879 single base substitution C T intron_variant PACA-CA 12 117382535 117382535 single base substitution G T intron_variant PACA-CA 12 117382813 117382813 single base substitution A G intron_variant PACA-CA 12 117383962 117383962 single base substitution T C intron_variant PACA-CA 12 117393924 117393924 single base substitution A G intron_variant PACA-CA 12 117394356 117394356 single base substitution A T intron_variant PACA-CA 12 117397075 117397075 single base substitution A G intron_variant PACA-CA 12 117397847 117397847 single base substitution A G intron_variant PACA-CA 12 117402766 117402766 single base substitution G A intron_variant PACA-CA 12 117410217 117410217 single base substitution A G intron_variant PACA-CA 12 117415322 117415322 single base substitution A G intron_variant PACA-CA 12 117415322 117415322 single base substitution A G upstream_gene_variant PACA-CA 12 117416870 117416870 single base substitution G T intron_variant PACA-CA 12 117417315 117417315 single base substitution C G intron_variant PACA-CA 12 117419362 117419362 single base substitution A G intron_variant PACA-CA 12 117423766 117423766 single base substitution A T downstream_gene_variant PACA-CA 12 117423766 117423766 single base substitution A T intron_variant PACA-CA 12 117431125 117431125 single base substitution T C intron_variant PACA-CA 12 117435519 117435537 deletion of <=200bp AGCCCTGGGCTGCTGCAGG - intron_variant PACA-CA 12 117438441 117438441 insertion of <=200bp - T intron_variant PACA-CA 12 117440009 117440009 single base substitution G A intron_variant PACA-CA 12 117444086 117444086 single base substitution G C intron_variant PACA-CA 12 117444560 117444560 insertion of <=200bp - CC intron_variant PACA-CA 12 117444577 117444577 single base substitution G A intron_variant PACA-CA 12 117452545 117452545 single base substitution T C intron_variant PACA-CA 12 117453647 117453647 single base substitution G A intron_variant PACA-CA 12 117455482 117455482 insertion of <=200bp - A intron_variant PACA-CA 12 117457196 117457196 single base substitution A G intron_variant PACA-CA 12 117458444 117458444 single base substitution C G intron_variant PACA-CA 12 117459803 117459803 single base substitution A C intron_variant PACA-CA 12 117461573 117461573 single base substitution C G intron_variant PACA-CA 12 117466079 117466079 single base substitution A C 3_prime_UTR_variant PACA-CA 12 117466504 117466504 single base substitution A C 3_prime_UTR_variant PACA-CA 12 117466504 117466504 single base substitution A C downstream_gene_variant PACA-CA 12 117466971 117466971 single base substitution C A 3_prime_UTR_variant PACA-CA 12 117466971 117466971 single base substitution C A downstream_gene_variant PACA-CA 12 117468530 117468530 single base substitution G C 3_prime_UTR_variant PACA-CA 12 117468530 117468530 single base substitution G C downstream_gene_variant PAEN-AU 12 117347880 117347880 insertion of <=200bp - T upstream_gene_variant PAEN-AU 12 117356544 117356544 single base substitution C G intron_variant PAEN-AU 12 117390480 117390480 single base substitution C T intron_variant PAEN-AU 12 117437932 117437932 single base substitution G A intron_variant PAEN-AU 12 117438668 117438668 single base substitution G C intron_variant PAEN-AU 12 117444875 117444875 single base substitution G A intron_variant PAEN-IT 12 117344258 117344258 single base substitution A C upstream_gene_variant PAEN-IT 12 117373832 117373832 single base substitution C A intron_variant PAEN-IT 12 117399931 117399931 single base substitution G A intron_variant PAEN-IT 12 117425193 117425193 single base substitution G A downstream_gene_variant PAEN-IT 12 117425193 117425193 single base substitution G A intron_variant PAEN-IT 12 117434069 117434069 single base substitution C G intron_variant PAEN-IT 12 117451081 117451081 single base substitution A G intron_variant PAEN-IT 12 117471052 117471052 single base substitution G A downstream_gene_variant PBCA-DE 12 117343901 117343901 single base substitution C T upstream_gene_variant PBCA-DE 12 117361980 117361980 deletion of <=200bp T - intron_variant PBCA-DE 12 117362211 117362211 single base substitution C T intron_variant PBCA-DE 12 117363450 117363450 deletion of <=200bp T - intron_variant PBCA-DE 12 117369759 117369759 single base substitution T A intron_variant PBCA-DE 12 117398209 117398209 single base substitution C T intron_variant PBCA-DE 12 117401126 117401126 single base substitution C A intron_variant PBCA-DE 12 117406624 117406624 deletion of <=200bp A - intron_variant PBCA-DE 12 117417157 117417157 single base substitution T C intron_variant PBCA-DE 12 117422916 117422916 single base substitution G A intron_variant PBCA-DE 12 117445067 117445067 insertion of <=200bp - A intron_variant PBCA-DE 12 117454927 117454927 single base substitution A T intron_variant PBCA-DE 12 117460301 117460301 insertion of <=200bp - A intron_variant PBCA-DE 12 117470390 117470390 single base substitution C A downstream_gene_variant PBCA-DE 12 117470799 117470799 single base substitution C T downstream_gene_variant PRAD-CA 12 117355810 117355810 single base substitution C A intron_variant PRAD-CA 12 117361526 117361526 single base substitution T A intron_variant PRAD-CA 12 117380731 117380731 single base substitution T G intron_variant PRAD-CA 12 117427972 117427972 single base substitution A T downstream_gene_variant PRAD-CA 12 117427972 117427972 single base substitution A T intron_variant PRAD-CA 12 117428448 117428448 single base substitution C G intron_variant PRAD-CA 12 117466271 117466271 single base substitution C T 3_prime_UTR_variant PRAD-UK 12 117344962 117344962 single base substitution T C upstream_gene_variant PRAD-UK 12 117397708 117397708 single base substitution A G intron_variant PRAD-UK 12 117412663 117412663 single base substitution A G intron_variant PRAD-UK 12 117412663 117412663 single base substitution A G upstream_gene_variant PRAD-UK 12 117424763 117424763 single base substitution C T downstream_gene_variant PRAD-UK 12 117424763 117424763 single base substitution C T intron_variant PRAD-UK 12 117433659 117433659 single base substitution G A intron_variant PRAD-UK 12 117466664 117466664 single base substitution A T 3_prime_UTR_variant PRAD-UK 12 117466664 117466664 single base substitution A T downstream_gene_variant READ-US 12 117365873 117365873 single base substitution G A missense_variant E122K 364G>A READ-US 12 117365873 117365873 single base substitution G A missense_variant E56K 166G>A READ-US 12 117383273 117383273 single base substitution C T synonymous_variant C110C 330C>T READ-US 12 117383273 117383273 single base substitution C T synonymous_variant C176C 528C>T RECA-EU 12 117358097 117358097 single base substitution T G intron_variant RECA-EU 12 117370220 117370220 single base substitution G A intron_variant RECA-EU 12 117370945 117370945 single base substitution A G intron_variant RECA-EU 12 117378564 117378564 single base substitution C G intron_variant RECA-EU 12 117379249 117379249 single base substitution G C intron_variant RECA-EU 12 117379335 117379335 single base substitution A C intron_variant RECA-EU 12 117381758 117381758 single base substitution T C intron_variant RECA-EU 12 117382397 117382397 single base substitution T G intron_variant RECA-EU 12 117387577 117387577 single base substitution T A intron_variant RECA-EU 12 117403035 117403035 single base substitution G T intron_variant RECA-EU 12 117404109 117404109 single base substitution A C intron_variant RECA-EU 12 117408187 117408187 single base substitution G A intron_variant RECA-EU 12 117416311 117416311 single base substitution T A intron_variant RECA-EU 12 117430979 117430979 single base substitution G C intron_variant RECA-EU 12 117445121 117445121 single base substitution G T intron_variant RECA-EU 12 117448362 117448362 single base substitution A T intron_variant RECA-EU 12 117448691 117448691 single base substitution T A intron_variant RECA-EU 12 117457217 117457217 single base substitution C A intron_variant RECA-EU 12 117472286 117472286 single base substitution C A downstream_gene_variant SKCA-BR 12 117344225 117344225 insertion of <=200bp - TAATA upstream_gene_variant SKCA-BR 12 117345551 117345588 deletion of <=200bp CTTGGGTGTTTAAAATTTTCCAGTTTGAGCCTGGAAAA - upstream_gene_variant SKCA-BR 12 117345880 117345880 single base substitution T A upstream_gene_variant SKCA-BR 12 117346446 117346446 single base substitution C T upstream_gene_variant SKCA-BR 12 117346793 117346793 single base substitution C T upstream_gene_variant SKCA-BR 12 117347209 117347209 single base substitution G A upstream_gene_variant SKCA-BR 12 117348047 117348047 single base substitution T C upstream_gene_variant SKCA-BR 12 117348052 117348052 single base substitution T C upstream_gene_variant SKCA-BR 12 117348632 117348632 single base substitution A C upstream_gene_variant SKCA-BR 12 117353084 117353084 single base substitution C T intron_variant SKCA-BR 12 117357767 117357767 single base substitution C T intron_variant SKCA-BR 12 117358024 117358024 single base substitution G T intron_variant SKCA-BR 12 117361092 117361093 deletion of <=200bp TA - intron_variant SKCA-BR 12 117361951 117361980 deletion of <=200bp GGTTGTCCATTTTCATGTTTTTAAGTCAGT - intron_variant SKCA-BR 12 117362439 117362439 single base substitution C T intron_variant SKCA-BR 12 117380575 117380577 deletion of <=200bp ATT - intron_variant SKCA-BR 12 117380892 117380892 single base substitution T A intron_variant SKCA-BR 12 117382037 117382037 single base substitution C T intron_variant SKCA-BR 12 117382460 117382460 single base substitution C T intron_variant SKCA-BR 12 117387031 117387031 single base substitution C T intron_variant SKCA-BR 12 117388258 117388258 single base substitution G A intron_variant SKCA-BR 12 117388259 117388259 single base substitution G A intron_variant SKCA-BR 12 117388529 117388529 single base substitution C T intron_variant SKCA-BR 12 117391289 117391289 single base substitution G A intron_variant SKCA-BR 12 117394598 117394598 single base substitution C T intron_variant SKCA-BR 12 117401648 117401648 single base substitution T G intron_variant SKCA-BR 12 117402751 117402751 single base substitution C T intron_variant SKCA-BR 12 117410170 117410170 single base substitution C T intron_variant SKCA-BR 12 117411307 117411307 single base substitution C T intron_variant SKCA-BR 12 117411307 117411307 single base substitution C T upstream_gene_variant SKCA-BR 12 117413716 117413716 single base substitution C T intron_variant SKCA-BR 12 117413716 117413716 single base substitution C T upstream_gene_variant SKCA-BR 12 117414255 117414256 deletion of <=200bp CT - intron_variant SKCA-BR 12 117414255 117414256 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 12 117414276 117414276 insertion of <=200bp - TC intron_variant SKCA-BR 12 117414276 117414276 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 12 117414717 117414717 single base substitution G A intron_variant SKCA-BR 12 117414717 117414717 single base substitution G A upstream_gene_variant SKCA-BR 12 117416476 117416476 single base substitution A G intron_variant SKCA-BR 12 117417506 117417506 single base substitution T A intron_variant SKCA-BR 12 117424086 117424086 single base substitution T G downstream_gene_variant SKCA-BR 12 117424086 117424086 single base substitution T G intron_variant SKCA-BR 12 117425019 117425019 single base substitution T G downstream_gene_variant SKCA-BR 12 117425019 117425019 single base substitution T G intron_variant SKCA-BR 12 117425021 117425021 single base substitution C T downstream_gene_variant SKCA-BR 12 117425021 117425021 single base substitution C T intron_variant SKCA-BR 12 117425303 117425303 single base substitution A G downstream_gene_variant SKCA-BR 12 117425303 117425303 single base substitution A G intron_variant SKCA-BR 12 117430801 117430801 single base substitution C T intron_variant SKCA-BR 12 117431277 117431278 deletion of <=200bp AT - intron_variant SKCA-BR 12 117431429 117431429 single base substitution C T intron_variant SKCA-BR 12 117432150 117432150 single base substitution G A intron_variant SKCA-BR 12 117440614 117440614 single base substitution A C intron_variant SKCA-BR 12 117444208 117444208 single base substitution A C intron_variant SKCA-BR 12 117444342 117444342 single base substitution A C intron_variant SKCA-BR 12 117447455 117447455 single base substitution C T intron_variant SKCA-BR 12 117448316 117448316 single base substitution C T intron_variant SKCA-BR 12 117455365 117455365 single base substitution A G intron_variant SKCA-BR 12 117456481 117456481 single base substitution C T intron_variant SKCA-BR 12 117456833 117456833 single base substitution G A intron_variant SKCA-BR 12 117458255 117458255 single base substitution C T intron_variant SKCA-BR 12 117462972 117462972 single base substitution C T intron_variant SKCA-BR 12 117463490 117463490 single base substitution G A intron_variant SKCA-BR 12 117471211 117471211 single base substitution C T downstream_gene_variant SKCA-BR 12 117471212 117471212 single base substitution C T downstream_gene_variant SKCA-BR 12 117471366 117471366 single base substitution C T downstream_gene_variant SKCA-BR 12 117472379 117472379 single base substitution T G downstream_gene_variant SKCA-BR 12 117472716 117472716 single base substitution C T downstream_gene_variant SKCM-US 12 117383244 117383244 single base substitution C T missense_variant P101S 301C>T SKCM-US 12 117383244 117383244 single base substitution C T missense_variant P167S 499C>T SKCM-US 12 117402562 117402562 single base substitution C T synonymous_variant F180F 540C>T SKCM-US 12 117402562 117402562 single base substitution C T synonymous_variant F246F 738C>T SKCM-US 12 117426628 117426628 single base substitution T C downstream_gene_variant SKCM-US 12 117426628 117426628 single base substitution T C missense_variant V332A 995T>C SKCM-US 12 117426628 117426628 single base substitution T C missense_variant V398A 1193T>C SKCM-US 12 117448247 117448247 single base substitution G A missense_variant M387I 1161G>A SKCM-US 12 117448247 117448247 single base substitution G A missense_variant M453I 1359G>A SKCM-US 12 117461999 117461999 single base substitution C T missense_variant S406F 1217C>T SKCM-US 12 117461999 117461999 single base substitution C T missense_variant S472F 1415C>T SKCM-US 12 117462048 117462048 single base substitution C T synonymous_variant I422I 1266C>T SKCM-US 12 117462048 117462048 single base substitution C T synonymous_variant I488I 1464C>T SKCM-US 12 117465253 117465253 single base substitution G A synonymous_variant V466V 1398G>A SKCM-US 12 117465253 117465253 single base substitution G A synonymous_variant V532V 1596G>A SKCM-US 12 117465849 117465849 single base substitution C T missense_variant R491C 1471C>T SKCM-US 12 117465849 117465849 single base substitution C T missense_variant R557C 1669C>T SKCM-US 12 117465961 117465961 single base substitution C T missense_variant P528L 1583C>T SKCM-US 12 117465961 117465961 single base substitution C T missense_variant P594L 1781C>T STAD-US 12 117365830 117365830 single base substitution T C splice_region_variant STAD-US 12 117365934 117365934 single base substitution T C splice_donor_variant STAD-US 12 117387463 117387464 deletion of <=200bp AC - frameshift_variant D144 STAD-US 12 117387463 117387464 deletion of <=200bp AC - frameshift_variant D210 STAD-US 12 117387508 117387508 single base substitution C T missense_variant A159V 476C>T STAD-US 12 117387508 117387508 single base substitution C T missense_variant A225V 674C>T STAD-US 12 117423059 117423059 single base substitution G A exon_variant STAD-US 12 117423059 117423059 single base substitution G A missense_variant R229H 686G>A STAD-US 12 117423059 117423059 single base substitution G A missense_variant R295H 884G>A THCA-SA 12 117465981 117465981 single base substitution T C 3_prime_UTR_variant THCA-SA 12 117468367 117468367 single base substitution C G 3_prime_UTR_variant THCA-SA 12 117468367 117468367 single base substitution C G downstream_gene_variant THCA-US 12 117402520 117402520 single base substitution G A synonymous_variant V166V 498G>A THCA-US 12 117402520 117402520 single base substitution G A synonymous_variant V232V 696G>A UCEC-US 12 117365862 117365862 single base substitution A C missense_variant Q118P 353A>C UCEC-US 12 117365862 117365862 single base substitution A C missense_variant Q52P 155A>C UCEC-US 12 117365931 117365931 single base substitution A G missense_variant Q141R 422A>G UCEC-US 12 117365931 117365931 single base substitution A G missense_variant Q75R 224A>G UCEC-US 12 117423181 117423181 single base substitution G T exon_variant UCEC-US 12 117423181 117423181 single base substitution G T missense_variant A270S 808G>T UCEC-US 12 117423181 117423181 single base substitution G T missense_variant A336S 1006G>T UCEC-US 12 117426488 117426488 single base substitution T C downstream_gene_variant UCEC-US 12 117426488 117426488 single base substitution T C synonymous_variant V285V 855T>C UCEC-US 12 117426488 117426488 single base substitution T C synonymous_variant V351V 1053T>C UCEC-US 12 117426552 117426552 single base substitution G A downstream_gene_variant UCEC-US 12 117426552 117426552 single base substitution G A missense_variant A307T 919G>A UCEC-US 12 117426552 117426552 single base substitution G A missense_variant A373T 1117G>A UCEC-US 12 117448239 117448239 single base substitution G A missense_variant G385S 1153G>A UCEC-US 12 117448239 117448239 single base substitution G A missense_variant G451S 1351G>A UCEC-US 12 117461994 117461994 single base substitution G A synonymous_variant S404S 1212G>A UCEC-US 12 117461994 117461994 single base substitution G A synonymous_variant S470S 1410G>A UCEC-US 12 117465251 117465251 single base substitution G A missense_variant V466M 1396G>A UCEC-US 12 117465251 117465251 single base substitution G A missense_variant V532M 1594G>A UCEC-US 12 117465277 117465277 single base substitution C T synonymous_variant N474N 1422C>T UCEC-US 12 117465277 117465277 single base substitution C T synonymous_variant N540N 1620C>T UCEC-US 12 117465865 117465865 single base substitution C T missense_variant A496V 1487C>T UCEC-US 12 117465865 117465865 single base substitution C T missense_variant A562V 1685C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM935589 c.1410G>A p.S470S Substitution - coding silent 12:117024189-117024189 + SNUH_G17_S1 COSM3676383 c.1607C>T p.T536M Substitution - Missense 12:117027459-117027459 + TCGA-BR-6452-01 COSM4039111 c.321T>C p.N107N Substitution - coding silent 12:116928025-116928025 + CHC892T COSM4798070 c.424G>A p.V142M Substitution - Missense 12:116945364-116945364 + TCGA-FW-A5DX-01 COSM3456643 c.499C>T p.P167S Substitution - Missense 12:116945439-116945439 + TCGA-AZ-6601-01 COSM1359099 c.1388G>A p.R463H Substitution - Missense 12:117024167-117024167 + ME029T COSM226726 c.1360G>A p.D454N Substitution - Missense 12:117010443-117010443 + T3024 COSM1628400 c.705G>T p.W235C Substitution - Missense 12:116964724-116964724 + LIM1899 COSM3731491 c.1740C>T p.D580D Substitution - coding silent 12:117028115-117028115 + T3498 COSM4684147 c.712C>T p.R238C Substitution - Missense 12:116964731-116964731 + 545 COSM5612674 c.1153G>A p.G385S Substitution - Missense 12:116988783-116988783 + TCGA-AZ-4315-01 COSM1359096 c.1026G>A p.P342P Substitution - coding silent 12:116985396-116985396 + T3262 COSM4684149 c.836-1G>T p.? Unknown 12:116985205-116985205 + TCGA-BP-4963-01 COSM467850 c.1278G>A p.L426L Substitution - coding silent 12:117010361-117010361 + TCGA-DD-A3A4-01 COSM4929046 c.1608G>A p.T536T Substitution - coding silent 12:117027460-117027460 + T3479 COSM3731491 c.1740C>T p.D580D Substitution - coding silent 12:117028115-117028115 + RK015_C COSM1628401 c.1535A>G p.Y512C Substitution - Missense 12:117024314-117024314 + NCI-H522 COSM1684348 c.1312_1313delGT p.V438fs*28 Deletion - Frameshift 12:117010395-117010396 + TCGA-AK-3425-01 COSM3359560 c.1276T>A p.L426M Substitution - Missense 12:117010359-117010359 + CSCC-44-T COSM4489716 c.351C>T p.I117I Substitution - coding silent 12:116928055-116928055 + TCGA-BG-A0VW-01 COSM935588 c.1351G>A p.G451S Substitution - Missense 12:117010434-117010434 + CRC-23T COSM5482530 c.1125C>T p.D375D Substitution - coding silent 12:116988755-116988755 + TCGA-13-1481-01 COSM74638 c.374T>C p.I125T Substitution - Missense 12:116928078-116928078 + RK043_C01 COSM3700217 c.966C>G p.V322V Substitution - coding silent 12:116985336-116985336 + TCGA-EE-A2MM-06 COSM3456644 c.738C>T p.F246F Substitution - coding silent 12:116964757-116964757 + TCGA-AA-3679-01 COSM292950 c.1670G>A p.R557H Substitution - Missense 12:117028045-117028045 + TCGA-EE-A2M5-06 COSM691900 c.1669C>T p.R557C Substitution - Missense 12:117028044-117028044 + sysucc-311T COSM5478006 c.1537T>C p.S513P Substitution - Missense 12:117024316-117024316 + TCGA-AX-A063-01 COSM935586 c.1053T>C p.V351V Substitution - coding silent 12:116988683-116988683 + TCGA-F5-6814-01 COSM3416520 c.364G>A p.E122K Substitution - Missense 12:116928068-116928068 + sysucc-1317T COSM546535 c.319-9T>C p.? Unknown 12:116928014-116928014 + TCGA-E2-A1LB-01 COSM1476172 c.592C>T p.R198C Substitution - Missense 12:116949621-116949621 + Gp2D COSM2173421 c.838T>C p.F280L Substitution - Missense 12:116985208-116985208 + TCGA-A5-A0GW-01 COSM935584 c.809C>T p.S270L Substitution - Missense 12:116964828-116964828 + 340TS COSM673810 c.1495G>A p.V499M Substitution - Missense 12:117024274-117024274 + LUAD-S01373 COSM388135 c.385C>A p.Q129K Substitution - Missense 12:116928089-116928089 + TCGA-EA-A50E-01 COSM4822202 c.1588G>A p.A530T Substitution - Missense 12:117027440-117027440 + TCGA-EW-A1PD-01 COSM1476175 c.1626C>G p.D542E Substitution - Missense 12:117027478-117027478 + TCGA-AP-A051-01 COSM935585 c.1006G>T p.A336S Substitution - Missense 12:116985376-116985376 + PT35 COSM5913384 c.1539C>T p.S513S Substitution - coding silent 12:117024318-117024318 + 2492710 COSM5717717 c.875C>T p.P292L Substitution - Missense 12:116985245-116985245 + RK308_C01 COSM3739452 c.930C>T p.D310D Substitution - coding silent 12:116985300-116985300 + ESCC_BICR_039T COSM5429542 c.223G>C p.E75Q Substitution - Missense 12:116911260-116911260 + TCGA-BF-A3DN-01 COSM4898968 c.1415C>T p.S472F Substitution - Missense 12:117024194-117024194 + TCGA-C8-A27A-01 COSM1476174 c.1362C>T p.D454D Substitution - coding silent 12:117010445-117010445 + T228 COSM4684151 c.1228G>A p.E410K Substitution - Missense 12:116988858-116988858 + RK080_C01 COSM1628399 c.704G>T p.W235L Substitution - Missense 12:116964723-116964723 + TCGA-D9-A6EC-06 COSM4404893 c.1359G>A p.M453I Substitution - Missense 12:117010442-117010442 + 2492709 COSM5717717 c.875C>T p.P292L Substitution - Missense 12:116985245-116985245 + TCGA-HU-8602-01 COSM4039114 c.884G>A p.R295H Substitution - Missense 12:116985254-116985254 + PTC-28C COSM4146686 c.172C>G p.R58G Substitution - Missense 12:116911209-116911209 + T1 COSM546535 c.319-9T>C p.? Unknown 12:116928014-116928014 + T3064 COSM4684148 c.720G>T p.W240C Substitution - Missense 12:116964739-116964739 + RK080_C01 COSM1628400 c.705G>T p.W235C Substitution - Missense 12:116964724-116964724 + CSCC-27-T COSM4465815 c.1401C>T p.I467I Substitution - coding silent 12:117024180-117024180 + PD23559a COSM5795994 c.969G>C p.V323V Substitution - coding silent 12:116985339-116985339 + TCGA-18-3409-01 COSM691903 c.1257G>T p.L419L Substitution - coding silent 12:117010340-117010340 + Pa05X COSM84193 c.1734C>G p.S578S Substitution - coding silent 12:117028109-117028109 + 95 COSM5016422 c.1485delC p.L496fs*9 Deletion - Frameshift 12:117024264-117024264 + GC8_T COSM146359 c.984T>G p.N328K Substitution - Missense 12:116985354-116985354 + TCGA-60-2719-01 COSM691904 c.753C>T p.D251D Substitution - coding silent 12:116964772-116964772 + CHEWS015 COSM4575072 c.933T>C p.D311D Substitution - coding silent 12:116985303-116985303 + Pat_41_B COSM5840258 c.1127C>T p.S376F Substitution - Missense 12:116988757-116988757 + TCGA-EE-A29E-06 COSM3456646 c.1464C>T p.I488I Substitution - coding silent 12:117024243-117024243 + 46M COSM5587810 c.1024C>T p.P342S Substitution - Missense 12:116985394-116985394 + BD114T COSM5503970 c.130G>A p.G44R Substitution - Missense 12:116911167-116911167 + TCGA-BP-4963-01 COSM467851 c.1278_1279GA>AC p.L426>? Complex 12:117010361-117010362 + TCGA-G4-6626-01 COSM1359098 c.1387C>T p.R463C Substitution - Missense 12:117024166-117024166 + TCGA-BP-4963-01 COSM467852 c.1279A>C p.K427Q Substitution - Missense 12:117010362-117010362 + tumor_4163639 COSM1161034 c.1207C>T p.Q403* Substitution - Nonsense 12:116988837-116988837 + 587338 COSM1206911 c.1291G>A p.V431I Substitution - Missense 12:117010374-117010374 + TCGA-BR-7707-01 COSM4039112 c.423+2T>C p.? Unknown 12:116928129-116928129 + TCGA-G2-A2EO-01 COSM1298963 c.763G>A p.E255K Substitution - Missense 12:116964782-116964782 + RK015_C01 COSM1628401 c.1535A>G p.Y512C Substitution - Missense 12:117024314-117024314 + TCGA-EI-6917-01 COSM3416521 c.528C>T p.C176C Substitution - coding silent 12:116945468-116945468 + TCGA-C5-A7UH-01 COSM4856734 c.726C>T p.Y242Y Substitution - coding silent 12:116964745-116964745 + TCGA-18-3409-01 COSM691901 c.1258G>A p.E420K Substitution - Missense 12:117010341-117010341 + TCGA-AP-A051-01 COSM935587 c.1117G>A p.A373T Substitution - Missense 12:116988747-116988747 + CHC892T COSM4798070 c.424G>A p.V142M Substitution - Missense 12:116945364-116945364 + T3503 COSM4684150 c.883C>T p.R295C Substitution - Missense 12:116985253-116985253 + TCGA-DB-A4XD-01 COSM3968001 c.1308G>A p.T436T Substitution - coding silent 12:117010391-117010391 + TCGA-E9-A295-01 COSM1476173 c.1175A>C p.D392A Substitution - Missense 12:116988805-116988805 + 20T COSM3710688 c.1189C>A p.Q397K Substitution - Missense 12:116988819-116988819 + 1N61-VS-1T61 COSM4977770 c.1402G>T p.A468S Substitution - Missense 12:117024181-117024181 + CSCC-46-T COSM292950 c.1670G>A p.R557H Substitution - Missense 12:117028045-117028045 + SNUH_G73_S1 COSM4415423 c.575G>A p.R192Q Substitution - Missense 12:116945515-116945515 + 254 COSM3731491 c.1740C>T p.D580D Substitution - coding silent 12:117028115-117028115 + B110-Tumor COSM1746774 c.1751C>G p.T584S Substitution - Missense 12:117028126-117028126 + BCM321T COSM3710688 c.1189C>A p.Q397K Substitution - Missense 12:116988819-116988819 + HT115 COSM2173417 c.593G>A p.R198H Substitution - Missense 12:116949622-116949622 + PTC-7C COSM4146687 c.709A>C p.T237P Substitution - Missense 12:116964728-116964728 + 587376 COSM1206914 c.1762G>A p.D588N Substitution - Missense 12:117028137-117028137 + STC263 COSM5051375 c.1144T>C p.Y382H Substitution - Missense 12:116988774-116988774 + PT23_2 COSM5903826 c.1378C>T p.H460Y Substitution - Missense 12:117024157-117024157 + TCGA-EE-A2GM-06 COSM3456647 c.1596G>A p.V532V Substitution - coding silent 12:117027448-117027448 + Pat_45_B COSM5840257 c.1036C>T p.Q346* Substitution - Nonsense 12:116988666-116988666 + TCGA-EE-A3J5-06 COSM3456645 c.1193T>C p.V398A Substitution - Missense 12:116988823-116988823 + 587342 COSM1206913 c.1577G>A p.S526N Substitution - Missense 12:117027429-117027429 + TCGA-C5-A1BM-01 COSM4826500 c.1174G>A p.D392N Substitution - Missense 12:116988804-116988804 + TCGA-HU-A4GQ-01 COSM4039113 c.674C>T p.A225V Substitution - Missense 12:116949703-116949703 + 2497781 COSM2173413 c.502G>T p.D168Y Substitution - Missense 12:116945442-116945442 + HCC160T COSM292950 c.1670G>A p.R557H Substitution - Missense 12:117028045-117028045 + 587228 COSM1206910 c.1699G>A p.A567T Substitution - Missense 12:117028074-117028074 + SNUH_G73_S1 COSM1476174 c.1362C>T p.D454D Substitution - coding silent 12:117010445-117010445 + PT35 COSM5913383 c.1538C>A p.S513Y Substitution - Missense 12:117024317-117024317 + TCGA-EE-A29L-06 COSM3456648 c.1781C>T p.P594L Substitution - Missense 12:117028156-117028156 + LC_C27 COSM1188622 c.1039T>C p.Y347H Substitution - Missense 12:116988669-116988669 + Pat_65_A COSM5840259 c.1449_1450GG>AA p.M483_D484>IN Complex - compound substitution 12:117024228-117024229 + TCGA-D1-A103-01 COSM935592 c.1685C>T p.A562V Substitution - Missense 12:117028060-117028060 + TCGA-CM-6674-01 COSM1359097 c.1268G>A p.R423H Substitution - Missense 12:117010351-117010351 + TCGA-25-2392-01 COSM79854 c.1410G>T p.S470S Substitution - coding silent 12:117024189-117024189 + 2492708 COSM5717717 c.875C>T p.P292L Substitution - Missense 12:116985245-116985245 + HCC160 COSM292950 c.1670G>A p.R557H Substitution - Missense 12:117028045-117028045 + TCGA-D1-A103-01 COSM935590 c.1594G>A p.V532M Substitution - Missense 12:117027446-117027446 + Gp5D COSM2173422 c.943G>A p.A315T Substitution - Missense 12:116985313-116985313 + BCM321T COSM3710688 c.1189C>A p.Q397K Substitution - Missense 12:116988819-116988819 + OSCC-GB_00200111 COSM3710688 c.1189C>A p.Q397K Substitution - Missense 12:116988819-116988819 + CHEWS015 COSM4575071 c.434C>T p.T145M Substitution - Missense 12:116945374-116945374 + 587284 COSM1206912 c.853G>A p.D285N Substitution - Missense 12:116985223-116985223 + CN-AML-CR-7-Dx COSM2173437 c.1494C>T p.S498S Substitution - coding silent 12:117024273-117024273 + TCGA-AP-A056-01 COSM935582 c.353A>C p.Q118P Substitution - Missense 12:116928057-116928057 + TCGA-AP-A059-01 COSM935583 c.422A>G p.Q141R Substitution - Missense 12:116928126-116928126 + T3225 COSM4684153 c.1768G>A p.A590T Substitution - Missense 12:117028143-117028143 + PD4958a COSM5788133 c.1240-2A>C p.? Unknown 12:117010321-117010321 + B110 COSM1746774 c.1751C>G p.T584S Substitution - Missense 12:117028126-117028126 + LUAD-S01315 COSM344112 c.702G>A p.V234V Substitution - coding silent 12:116964721-116964721 + I2L-P18-Tumor-Organoid COSM5361454 c.373A>T p.I125F Substitution - Missense 12:116928077-116928077 + T3190 COSM4684152 c.1687G>A p.V563M Substitution - Missense 12:117028062-117028062 + Gp5D COSM2173421 c.838T>C p.F280L Substitution - Missense 12:116985208-116985208 + BK0051 COSM4188046 c.667G>T p.V223F Substitution - Missense 12:116949696-116949696 + TCGA-18-3409-01 COSM691900 c.1669C>T p.R557C Substitution - Missense 12:117028044-117028044 + ESCC_34 COSM5628410 c.1507C>T p.R503W Substitution - Missense 12:117024286-117024286 + TCGA-IM-A3ED-01 COSM3368666 c.696G>A p.V232V Substitution - coding silent 12:116964715-116964715 + TCGA-D1-A15X-01 COSM935591 c.1620C>T p.N540N Substitution - coding silent 12:117027472-117027472 + Pat_37_B COSM5840256 c.338C>T p.P113L Substitution - Missense 12:116928042-116928042 + CH-56-T2 COSM4575071 c.434C>T p.T145M Substitution - Missense 12:116945374-116945374 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.624528;Hs.624529;Hs.624530;Hs.624531;Hs.624534;Hs.624535;Hs.624536;Hs.624537 12q24.22 609073 2398266|CGAP|BC037296|A/G|non-coding||3026|Candidate; 1527759|dbSNP|BC037296|A/G|non-coding||3026|Validated Hs.696428 12q24.22 609073 2398266|CGAP|BC037296|A/G|non-coding||3026|Candidate; 1527759|dbSNP|BC037296|A/G|non-coding||3026|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D392A c.1175A>C 12 117426610 BRCA A C Missense p.K427Q c.1279A>C 12 117448167 RCCC A G Missense p.Y512C c.1535A>G 12 117462119 HC CC AT Synonymous p.(=) c.1485_1486delinsAT 12 117462069 CM C G Missense p.D542E c.1626C>G 12 117465283 BRCA C G Synonymous p.S578S c.1734C>G 12 117465914 PAAD C T Missense p.A337V c.1010C>T 12 117423185 COREAD C T Missense p.P594L c.1781C>T 12 117465961 CM C T Missense p.R198C c.592C>T 12 117387426 BRCA C T Missense p.R557C c.1669C>T 12 117465849 CM C T Missense p.R557C c.1669C>T 12 117465849 HNSC C T Missense p.S472F c.1415C>T 12 117461999 CM C T Nonsense p.Q403* c.1207C>T 12 117426642 DLBCL C T Synonymous p.D251D c.753C>T 12 117402577 LUSC C T Synonymous p.D454D c.1362C>T 12 117448250 BRCA C T Synonymous p.F246F c.738C>T 12 117402562 CM G A Missense p.E255K c.763G>A 12 117402587 BLCA G A Missense p.G451S c.1351G>A 12 117448239 UCEC G A Missense p.R557H c.1670G>A 12 117465850 BRCA G A Missense p.R557H c.1670G>A 12 117465850 COREAD G A Synonymous p.L426L c.1278G>A 12 117448166 RCCC G A Synonymous p.V232V c.696G>A 12 117402520 THCA G A Synonymous p.V532V c.1596G>A 12 117465253 CM G T Missense p.Q403H c.1209G>T 12 117426644 LUAD G T Synonymous p.S470S c.1410G>T 12 117461994 OV T A Missense p.L426M c.1276T>A 12 117448164 RCCC T C IntronicSNV . c.836-5854T>C 12 117417157 MB T C Missense p.I125T c.374T>C 12 117365883 OV T C Missense p.V398A c.1193T>C 12 117426628 CM T C Synonymous p.V351V c.1053T>C 12 117426488 UCEC