Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 12 1702042 1702042 + Silent SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr12:1702042C>T c.1191G>A c.(1189-1191)gaG>gaA p.E397E BLCA 12 1702297 1702297 + Silent SNP G G A TCGA-FD-A6TG-01A-11D-A32B-08 TCGA-FD-A6TG-10A-01D-A329-08 g.chr12:1702297G>A c.936C>T c.(934-936)ctC>ctT p.L312L BLCA 12 1702577 1702577 + Missense_Mutation SNP G G A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr12:1702577G>A c.656C>T c.(655-657)tCt>tTt p.S219F BLCA 12 1702831 1702831 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:1702831G>T c.402C>A c.(400-402)agC>agA p.S134R BLCA 12 1702939 1702939 + Silent SNP G G A TCGA-DK-A3IK-01A-32D-A21A-08 TCGA-DK-A3IK-10A-01D-A21A-08 g.chr12:1702939G>A c.294C>T c.(292-294)agC>agT p.S98S BRCA 12 1702198 1702198 + Missense_Mutation SNP G G C TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr12:1702198G>C c.1035C>G c.(1033-1035)gaC>gaG p.D345E BRCA 12 1702880 1702880 + Missense_Mutation SNP G G A TCGA-D8-A1X7-01A-11D-A14K-09 TCGA-D8-A1X7-10A-01D-A14K-09 g.chr12:1702880G>A c.353C>T c.(352-354)tCc>tTc p.S118F BRCA 12 1702885 1702885 + Silent SNP G G A TCGA-AR-A2LN-01A-21D-A18P-09 TCGA-AR-A2LN-10A-01D-A18P-09 g.chr12:1702885G>A c.348C>T c.(346-348)atC>atT p.I116I BRCA 12 1702885 1702885 + Silent SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr12:1702885G>T c.348C>A c.(346-348)atC>atA p.I116I CESC 12 1702314 1702314 + Missense_Mutation SNP G G A TCGA-LP-A7HU-01A-11D-A33O-09 TCGA-LP-A7HU-10A-01D-A33O-09 g.chr12:1702314G>A c.919C>T c.(919-921)Ctc>Ttc p.L307F CESC 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr12:1703090A>C c.143T>G c.(142-144)gTg>gGg p.V48G COAD 12 1675930 1675930 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:1675930delC c.1241delG c.(1240-1242)ggafs p.G414fs COAD 12 1702116 1702116 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:1702116C>T c.1117G>A c.(1117-1119)Ggc>Agc p.G373S COAD 12 1702349 1702349 + Missense_Mutation SNP T T G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:1702349T>G c.884A>C c.(883-885)cAg>cCg p.Q295P COAD 12 1702472 1702472 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:1702472C>T c.761G>A c.(760-762)aGc>aAc p.S254N COADREAD 12 1675930 1675930 + Frame_Shift_Del DEL C C - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:1675930delC c.1241delG c.(1240-1242)ggafs p.G414fs COADREAD 12 1702116 1702116 + Missense_Mutation SNP C C T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:1702116C>T c.1117G>A c.(1117-1119)Ggc>Agc p.G373S COADREAD 12 1702349 1702349 + Missense_Mutation SNP T T G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr12:1702349T>G c.884A>C c.(883-885)cAg>cCg p.Q295P COADREAD 12 1702472 1702472 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:1702472C>T c.761G>A c.(760-762)aGc>aAc p.S254N ESCA 12 1675955 1675955 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 g.chr12:1675955G>T c.1216C>A c.(1216-1218)Cca>Aca p.P406T HNSC 12 1702312 1702312 + Silent SNP G G C TCGA-D6-A6ES-01A-12D-A31L-08 TCGA-D6-A6ES-10A-01D-A31J-08 g.chr12:1702312G>C c.921C>G c.(919-921)ctC>ctG p.L307L HNSC 12 1702577 1702577 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr12:1702577G>A c.656C>T c.(655-657)tCt>tTt p.S219F KIPAN 12 1702059 1702059 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:1702059G>A c.1174C>T c.(1174-1176)Cag>Tag p.Q392* KIPAN 12 1702196 1702196 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr12:1702196T>C c.1037A>G c.(1036-1038)aAg>aGg p.K346R KIRC 12 1702059 1702059 + Nonsense_Mutation SNP G G A TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr12:1702059G>A c.1174C>T c.(1174-1176)Cag>Tag p.Q392* KIRC 12 1702196 1702196 + Missense_Mutation SNP T T C TCGA-CJ-4916-01A-01D-1429-08 TCGA-CJ-4916-11A-01D-1429-08 g.chr12:1702196T>C c.1037A>G c.(1036-1038)aAg>aGg p.K346R LIHC 12 1702156 1702156 + Silent SNP G G A TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr12:1702156G>A c.1077C>T c.(1075-1077)acC>acT p.T359T LIHC 12 1702306 1702306 + Silent SNP A A G TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr12:1702306A>G c.927T>C c.(925-927)tcT>tcC p.S309S LIHC 12 1702401 1702401 + Missense_Mutation SNP T T C TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:1702401T>C c.832A>G c.(832-834)Agc>Ggc p.S278G LUAD 12 1702092 1702092 + Missense_Mutation SNP G G A TCGA-17-Z044-01A-01W-0746-08 TCGA-17-Z044-11A-01W-0746-08 g.chr12:1702092G>A c.1141C>T c.(1141-1143)Ccg>Tcg p.P381S LUAD 12 1702803 1702803 + Missense_Mutation SNP C C T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr12:1702803C>T c.430G>A c.(430-432)Ggc>Agc p.G144S LUAD 12 1702917 1702917 + Missense_Mutation SNP T T A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr12:1702917T>A c.316A>T c.(316-318)Aac>Tac p.N106Y LUAD 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-50-8459-01A-11D-2323-08 TCGA-50-8459-10A-01D-2323-08 g.chr12:1703090A>C c.143T>G c.(142-144)gTg>gGg p.V48G LUAD 12 1703114 1703114 + Missense_Mutation SNP T T A TCGA-97-A4M7-01A-11D-A24P-08 TCGA-97-A4M7-10A-01D-A24P-08 g.chr12:1703114T>A c.119A>T c.(118-120)tAc>tTc p.Y40F LUSC 12 1702723 1702723 + Silent SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr12:1702723G>T c.510C>A c.(508-510)cgC>cgA p.R170R OV 12 1702231 1702231 + Silent SNP C C T TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 g.chr12:1702231C>T c.1002G>A c.(1000-1002)acG>acA p.T334T PRAD 12 1702154 1702154 + Missense_Mutation SNP C C T TCGA-WW-A8ZI-01A-11D-A377-08 TCGA-WW-A8ZI-10A-01D-A37A-08 g.chr12:1702154C>T c.1079G>A c.(1078-1080)gGc>gAc p.G360D PRAD 12 1703090 1703090 + Missense_Mutation SNP A A C TCGA-KC-A4BR-01A-32D-A257-08 TCGA-KC-A4BR-10A-01D-A25A-08 g.chr12:1703090A>C c.143T>G c.(142-144)gTg>gGg p.V48G SKCM 12 1675932 1675932 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:1675932C>T c.1239G>A c.(1237-1239)cgG>cgA p.R413R SKCM 12 1675965 1675965 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 g.chr12:1675965C>T c.1206G>A c.(1204-1206)ggG>ggA p.G402G SKCM 12 1702393 1702393 + Silent SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:1702393G>A c.840C>T c.(838-840)cgC>cgT p.R280R SKCM 12 1702919 1702919 + Missense_Mutation SNP T T A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr12:1702919T>A c.314A>T c.(313-315)gAc>gTc p.D105V

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 1702685 1702685 single base substitution G T stop_gained S183* 548C>A BLCA-CN 12 1702685 1702685 single base substitution G T upstream_gene_variant BLCA-CN 12 1702890 1702890 single base substitution C T missense_variant E115K 343G>A BLCA-CN 12 1702890 1702890 single base substitution C T upstream_gene_variant BLCA-US 12 1702939 1702939 single base substitution G A synonymous_variant S98S 294C>T BLCA-US 12 1702939 1702939 single base substitution G A upstream_gene_variant BRCA-EU 12 1670755 1670755 single base substitution T G downstream_gene_variant BRCA-EU 12 1671595 1671595 single base substitution G T downstream_gene_variant BRCA-EU 12 1672099 1672099 single base substitution G C downstream_gene_variant BRCA-EU 12 1672599 1672599 single base substitution C T downstream_gene_variant BRCA-EU 12 1673335 1673335 single base substitution G A downstream_gene_variant BRCA-EU 12 1674105 1674105 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 1674748 1674748 single base substitution G C downstream_gene_variant BRCA-EU 12 1675004 1675004 single base substitution C G downstream_gene_variant BRCA-EU 12 1676737 1676737 single base substitution C G intron_variant BRCA-EU 12 1677099 1677099 single base substitution T C intron_variant BRCA-EU 12 1677181 1677181 single base substitution A G intron_variant BRCA-EU 12 1678504 1678504 single base substitution C G intron_variant BRCA-EU 12 1678806 1678821 deletion of <=200bp TCCGCCCGCCTCGGCC - intron_variant BRCA-EU 12 1679800 1679800 single base substitution T G intron_variant BRCA-EU 12 1681646 1681646 single base substitution C T intron_variant BRCA-EU 12 1681670 1681670 single base substitution C T intron_variant BRCA-EU 12 1682025 1682025 deletion of <=200bp A - intron_variant BRCA-EU 12 1683322 1683322 single base substitution C G intron_variant BRCA-EU 12 1683363 1683363 single base substitution T A intron_variant BRCA-EU 12 1683364 1683364 single base substitution C T intron_variant BRCA-EU 12 1683437 1683437 single base substitution A C intron_variant BRCA-EU 12 1684184 1684184 single base substitution A G intron_variant BRCA-EU 12 1685019 1685019 single base substitution C G intron_variant BRCA-EU 12 1685038 1685038 single base substitution G C intron_variant BRCA-EU 12 1685234 1685234 single base substitution G C intron_variant BRCA-EU 12 1686098 1686098 single base substitution G C intron_variant BRCA-EU 12 1686401 1686401 single base substitution C A intron_variant BRCA-EU 12 1686535 1686535 single base substitution G C intron_variant BRCA-EU 12 1689066 1689066 single base substitution G T intron_variant BRCA-EU 12 1689907 1689907 single base substitution C G intron_variant BRCA-EU 12 1690147 1690147 single base substitution C G intron_variant BRCA-EU 12 1690253 1690253 single base substitution G A intron_variant BRCA-EU 12 1691062 1691062 single base substitution G A intron_variant BRCA-EU 12 1693586 1693586 single base substitution C T downstream_gene_variant BRCA-EU 12 1693586 1693586 single base substitution C T intron_variant BRCA-EU 12 1694420 1694420 single base substitution C T downstream_gene_variant BRCA-EU 12 1694420 1694420 single base substitution C T intron_variant BRCA-EU 12 1695008 1695008 single base substitution T G downstream_gene_variant BRCA-EU 12 1695008 1695008 single base substitution T G intron_variant BRCA-EU 12 1695426 1695426 single base substitution G A downstream_gene_variant BRCA-EU 12 1695426 1695426 single base substitution G A intron_variant BRCA-EU 12 1695525 1695525 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 1695525 1695525 deletion of <=200bp A - intron_variant BRCA-EU 12 1695939 1695939 single base substitution C T downstream_gene_variant BRCA-EU 12 1695939 1695939 single base substitution C T intron_variant BRCA-EU 12 1696723 1696723 single base substitution G A intron_variant BRCA-EU 12 1698425 1698425 single base substitution C A intron_variant BRCA-EU 12 1698873 1698873 single base substitution G C intron_variant BRCA-EU 12 1698874 1698874 single base substitution A T intron_variant BRCA-EU 12 1699512 1699512 single base substitution G C intron_variant BRCA-EU 12 1699601 1699601 deletion of <=200bp T - intron_variant BRCA-EU 12 1699692 1699692 single base substitution C G intron_variant BRCA-EU 12 1700031 1700031 single base substitution C T intron_variant BRCA-EU 12 1700105 1700105 deletion of <=200bp A - intron_variant BRCA-EU 12 1701442 1701442 deletion of <=200bp A - intron_variant BRCA-EU 12 1703953 1703953 single base substitution G C upstream_gene_variant BRCA-EU 12 1704166 1704166 insertion of <=200bp - C upstream_gene_variant BRCA-EU 12 1704966 1704966 single base substitution C T upstream_gene_variant BRCA-EU 12 1705325 1705325 single base substitution A G upstream_gene_variant BRCA-EU 12 1705838 1705838 single base substitution A G upstream_gene_variant BRCA-EU 12 1705989 1705989 single base substitution C T upstream_gene_variant BRCA-FR 12 1674748 1674748 single base substitution G C downstream_gene_variant BRCA-FR 12 1679800 1679800 single base substitution T G intron_variant BRCA-FR 12 1695008 1695008 single base substitution T G downstream_gene_variant BRCA-FR 12 1695008 1695008 single base substitution T G intron_variant BRCA-FR 12 1695426 1695426 single base substitution G A downstream_gene_variant BRCA-FR 12 1695426 1695426 single base substitution G A intron_variant BRCA-FR 12 1698873 1698873 single base substitution G C intron_variant BRCA-FR 12 1698874 1698874 single base substitution A T intron_variant BRCA-FR 12 1699512 1699512 single base substitution G C intron_variant BRCA-FR 12 1703586 1703586 single base substitution C T upstream_gene_variant BRCA-FR 12 1705325 1705325 single base substitution A G upstream_gene_variant BRCA-UK 12 1685038 1685038 single base substitution G C intron_variant BRCA-US 12 1702198 1702198 single base substitution G C exon_variant BRCA-US 12 1702198 1702198 single base substitution G C missense_variant D345E 1035C>G BRCA-US 12 1702880 1702880 single base substitution G A missense_variant S118F 353C>T BRCA-US 12 1702880 1702880 single base substitution G A upstream_gene_variant BRCA-US 12 1702885 1702885 single base substitution G A synonymous_variant I116I 348C>T BRCA-US 12 1702885 1702885 single base substitution G A upstream_gene_variant BRCA-US 12 1702885 1702885 single base substitution G T synonymous_variant I116I 348C>A BRCA-US 12 1702885 1702885 single base substitution G T upstream_gene_variant BTCA-JP 12 1675769 1675769 single base substitution G A 3_prime_UTR_variant BTCA-JP 12 1701901 1701901 single base substitution T A intron_variant CESC-US 12 1702314 1702314 single base substitution G A missense_variant L307F 919C>T CESC-US 12 1702314 1702314 single base substitution G A upstream_gene_variant CESC-US 12 1703090 1703090 single base substitution A C missense_variant V48G 143T>G CESC-US 12 1703090 1703090 single base substitution A C upstream_gene_variant CLLE-ES 12 1673832 1673832 single base substitution G A downstream_gene_variant CLLE-ES 12 1695727 1695727 single base substitution C T downstream_gene_variant CLLE-ES 12 1695727 1695727 single base substitution C T intron_variant COAD-US 12 1675930 1675930 deletion of <=200bp C - frameshift_variant G414 COAD-US 12 1702912 1702912 single base substitution C T synonymous_variant G107G 321G>A COAD-US 12 1702912 1702912 single base substitution C T upstream_gene_variant COCA-CN 12 1683543 1683543 single base substitution G A intron_variant COCA-CN 12 1683576 1683576 single base substitution C T intron_variant COCA-CN 12 1683617 1683617 single base substitution T C intron_variant COCA-CN 12 1683672 1683672 single base substitution A G intron_variant COCA-CN 12 1694111 1694111 single base substitution G A downstream_gene_variant COCA-CN 12 1694111 1694111 single base substitution G A intron_variant COCA-CN 12 1702559 1702559 single base substitution C T missense_variant R225Q 674G>A COCA-CN 12 1702559 1702559 single base substitution C T upstream_gene_variant ESAD-UK 12 1670493 1670493 single base substitution C T downstream_gene_variant ESAD-UK 12 1674152 1674152 single base substitution A T downstream_gene_variant ESAD-UK 12 1675893 1675893 single base substitution C A 3_prime_UTR_variant ESAD-UK 12 1676110 1676110 single base substitution C T intron_variant ESAD-UK 12 1679187 1679187 single base substitution G A intron_variant ESAD-UK 12 1680370 1680370 single base substitution G T intron_variant ESAD-UK 12 1680865 1680865 single base substitution G A intron_variant ESAD-UK 12 1681709 1681709 single base substitution G A intron_variant ESAD-UK 12 1684076 1684076 single base substitution A T intron_variant ESAD-UK 12 1685320 1685320 single base substitution T G intron_variant ESAD-UK 12 1686595 1686595 single base substitution A T intron_variant ESAD-UK 12 1687045 1687045 single base substitution C T intron_variant ESAD-UK 12 1689146 1689146 single base substitution G A intron_variant ESAD-UK 12 1689195 1689195 single base substitution C T intron_variant ESAD-UK 12 1691200 1691200 single base substitution G A intron_variant ESAD-UK 12 1692759 1692759 single base substitution G A downstream_gene_variant ESAD-UK 12 1692759 1692759 single base substitution G A intron_variant ESAD-UK 12 1693104 1693104 single base substitution T A downstream_gene_variant ESAD-UK 12 1693104 1693104 single base substitution T A intron_variant ESAD-UK 12 1695659 1695659 single base substitution C T downstream_gene_variant ESAD-UK 12 1695659 1695659 single base substitution C T intron_variant ESAD-UK 12 1695825 1695825 single base substitution C A downstream_gene_variant ESAD-UK 12 1695825 1695825 single base substitution C A intron_variant ESAD-UK 12 1697008 1697008 single base substitution C T intron_variant ESAD-UK 12 1699072 1699072 single base substitution C T intron_variant ESAD-UK 12 1699922 1699922 single base substitution G T intron_variant ESAD-UK 12 1700637 1700637 single base substitution T C intron_variant ESAD-UK 12 1704460 1704460 single base substitution T C upstream_gene_variant ESAD-UK 12 1705788 1705788 single base substitution A C upstream_gene_variant ESAD-UK 12 1707325 1707325 single base substitution G A upstream_gene_variant ESAD-UK 12 1708254 1708254 single base substitution G C upstream_gene_variant ESCA-CN 12 1700513 1700513 single base substitution G T intron_variant KIRC-US 12 1702196 1702196 single base substitution T C exon_variant KIRC-US 12 1702196 1702196 single base substitution T C missense_variant K346R 1037A>G LICA-FR 12 1678483 1678483 single base substitution C T intron_variant LICA-FR 12 1678564 1678565 deletion of <=200bp TT - intron_variant LICA-FR 12 1684810 1684810 single base substitution T G intron_variant LIHC-US 12 1702850 1702850 single base substitution T C missense_variant K128R 383A>G LIHC-US 12 1702850 1702850 single base substitution T C upstream_gene_variant LINC-JP 12 1670651 1670651 single base substitution T C downstream_gene_variant LINC-JP 12 1683631 1683631 single base substitution G A intron_variant LINC-JP 12 1684076 1684076 single base substitution A T intron_variant LINC-JP 12 1689023 1689023 single base substitution G A intron_variant LINC-JP 12 1695349 1695349 deletion of <=200bp T - downstream_gene_variant LINC-JP 12 1695349 1695349 deletion of <=200bp T - intron_variant LINC-JP 12 1697029 1697029 single base substitution C A intron_variant LIRI-JP 12 1671199 1671199 single base substitution G A downstream_gene_variant LIRI-JP 12 1675439 1675439 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 1675801 1675801 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 1676929 1676929 single base substitution G A intron_variant LIRI-JP 12 1677818 1677818 single base substitution G T intron_variant LIRI-JP 12 1679026 1679026 single base substitution C T intron_variant LIRI-JP 12 1690757 1690757 single base substitution C T intron_variant LIRI-JP 12 1691934 1691934 single base substitution G A downstream_gene_variant LIRI-JP 12 1691934 1691934 single base substitution G A intron_variant LIRI-JP 12 1693222 1693222 single base substitution T G downstream_gene_variant LIRI-JP 12 1693222 1693222 single base substitution T G intron_variant LIRI-JP 12 1693958 1693958 single base substitution T C downstream_gene_variant LIRI-JP 12 1693958 1693958 single base substitution T C intron_variant LIRI-JP 12 1696271 1696271 single base substitution C T downstream_gene_variant LIRI-JP 12 1696271 1696271 single base substitution C T intron_variant LIRI-JP 12 1697973 1697973 single base substitution T C intron_variant LIRI-JP 12 1698998 1698998 single base substitution C G intron_variant LIRI-JP 12 1701320 1701320 single base substitution A C intron_variant LIRI-JP 12 1701863 1701863 single base substitution G A intron_variant LIRI-JP 12 1704977 1704977 single base substitution T C upstream_gene_variant LIRI-JP 12 1705323 1705323 single base substitution A G upstream_gene_variant LIRI-JP 12 1707550 1707550 single base substitution A C upstream_gene_variant LUSC-KR 12 1673722 1673722 single base substitution T G downstream_gene_variant LUSC-KR 12 1679090 1679090 single base substitution G A intron_variant LUSC-KR 12 1687366 1687366 single base substitution T C intron_variant LUSC-KR 12 1700627 1700627 single base substitution T G intron_variant LUSC-KR 12 1702561 1702561 single base substitution G A synonymous_variant S224S 672C>T LUSC-KR 12 1702561 1702561 single base substitution G A upstream_gene_variant LUSC-KR 12 1703021 1703021 single base substitution C A missense_variant R71L 212G>T LUSC-KR 12 1703021 1703021 single base substitution C A upstream_gene_variant LUSC-KR 12 1703303 1703303 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 1703303 1703303 single base substitution G T upstream_gene_variant LUSC-KR 12 1704096 1704096 single base substitution C T upstream_gene_variant LUSC-KR 12 1705889 1705889 single base substitution G T upstream_gene_variant LUSC-KR 12 1707260 1707260 single base substitution C T upstream_gene_variant LUSC-KR 12 1707391 1707391 single base substitution G A upstream_gene_variant LUSC-KR 12 1708108 1708108 single base substitution C A upstream_gene_variant LUSC-US 12 1702723 1702723 single base substitution G T synonymous_variant R170R 510C>A LUSC-US 12 1702723 1702723 single base substitution G T upstream_gene_variant MALY-DE 12 1674092 1674092 single base substitution C G downstream_gene_variant MALY-DE 12 1675115 1675116 deletion of <=200bp AG - downstream_gene_variant MALY-DE 12 1676480 1676480 insertion of <=200bp - A intron_variant MALY-DE 12 1677008 1677008 single base substitution C T intron_variant MALY-DE 12 1692551 1692551 single base substitution A G downstream_gene_variant MALY-DE 12 1692551 1692551 single base substitution A G intron_variant MELA-AU 12 1670476 1670477 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 1670599 1670599 single base substitution C T downstream_gene_variant MELA-AU 12 1670677 1670677 single base substitution G A downstream_gene_variant MELA-AU 12 1670736 1670736 single base substitution G A downstream_gene_variant MELA-AU 12 1671474 1671474 single base substitution G A downstream_gene_variant MELA-AU 12 1671483 1671483 single base substitution T C downstream_gene_variant MELA-AU 12 1671572 1671572 single base substitution C T downstream_gene_variant MELA-AU 12 1672095 1672095 single base substitution A T downstream_gene_variant MELA-AU 12 1672337 1672337 single base substitution C T downstream_gene_variant MELA-AU 12 1672341 1672341 single base substitution G A downstream_gene_variant MELA-AU 12 1672733 1672734 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 1672777 1672777 single base substitution C T downstream_gene_variant MELA-AU 12 1672917 1672917 single base substitution G A downstream_gene_variant MELA-AU 12 1673628 1673628 single base substitution C T downstream_gene_variant MELA-AU 12 1673962 1673962 single base substitution G A downstream_gene_variant MELA-AU 12 1674145 1674145 single base substitution A C downstream_gene_variant MELA-AU 12 1674252 1674252 single base substitution C T downstream_gene_variant MELA-AU 12 1674436 1674436 single base substitution T A downstream_gene_variant MELA-AU 12 1675092 1675093 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 1675115 1675116 deletion of <=200bp AG - downstream_gene_variant MELA-AU 12 1675172 1675173 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 1675911 1675911 single base substitution C T 3_prime_UTR_variant MELA-AU 12 1676146 1676146 single base substitution G A intron_variant MELA-AU 12 1676160 1676160 single base substitution G A intron_variant MELA-AU 12 1676358 1676358 single base substitution G A intron_variant MELA-AU 12 1676395 1676395 single base substitution G A intron_variant MELA-AU 12 1676428 1676428 single base substitution A G intron_variant MELA-AU 12 1677175 1677175 single base substitution G A intron_variant MELA-AU 12 1677741 1677741 single base substitution C T intron_variant MELA-AU 12 1678798 1678798 single base substitution A G intron_variant MELA-AU 12 1679573 1679574 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 1679732 1679732 single base substitution C T intron_variant MELA-AU 12 1680546 1680546 single base substitution G A intron_variant MELA-AU 12 1680563 1680563 single base substitution G A intron_variant MELA-AU 12 1680819 1680819 single base substitution G A intron_variant MELA-AU 12 1681184 1681185 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 1681298 1681298 single base substitution G A intron_variant MELA-AU 12 1681452 1681452 single base substitution G A intron_variant MELA-AU 12 1682750 1682750 single base substitution G C intron_variant MELA-AU 12 1682825 1682825 single base substitution G A intron_variant MELA-AU 12 1682882 1682882 single base substitution G A intron_variant MELA-AU 12 1683383 1683383 single base substitution G A intron_variant MELA-AU 12 1683491 1683491 single base substitution G A intron_variant MELA-AU 12 1684076 1684076 single base substitution A T intron_variant MELA-AU 12 1684618 1684618 deletion of <=200bp T - intron_variant MELA-AU 12 1684947 1684947 single base substitution G A intron_variant MELA-AU 12 1686335 1686335 single base substitution C T intron_variant MELA-AU 12 1686484 1686484 single base substitution G A intron_variant MELA-AU 12 1686575 1686575 single base substitution G A intron_variant MELA-AU 12 1687217 1687217 single base substitution G A intron_variant MELA-AU 12 1688012 1688013 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 12 1688080 1688080 single base substitution C T intron_variant MELA-AU 12 1689347 1689347 single base substitution C T intron_variant MELA-AU 12 1689496 1689496 single base substitution G C intron_variant MELA-AU 12 1689801 1689801 single base substitution G A intron_variant MELA-AU 12 1690307 1690307 single base substitution G A intron_variant MELA-AU 12 1690429 1690429 single base substitution G A intron_variant MELA-AU 12 1690601 1690601 single base substitution G A intron_variant MELA-AU 12 1690768 1690769 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 1690874 1690874 single base substitution C T intron_variant MELA-AU 12 1690951 1690951 single base substitution C T intron_variant MELA-AU 12 1691082 1691082 single base substitution G A intron_variant MELA-AU 12 1691288 1691288 single base substitution G A intron_variant MELA-AU 12 1691411 1691411 single base substitution A G intron_variant MELA-AU 12 1691422 1691422 single base substitution A G intron_variant MELA-AU 12 1692340 1692340 single base substitution G A downstream_gene_variant MELA-AU 12 1692340 1692340 single base substitution G A intron_variant MELA-AU 12 1692978 1692978 single base substitution G A downstream_gene_variant MELA-AU 12 1692978 1692978 single base substitution G A intron_variant MELA-AU 12 1693516 1693516 single base substitution C T downstream_gene_variant MELA-AU 12 1693516 1693516 single base substitution C T intron_variant MELA-AU 12 1693535 1693535 single base substitution G A downstream_gene_variant MELA-AU 12 1693535 1693535 single base substitution G A intron_variant MELA-AU 12 1693577 1693577 single base substitution G A downstream_gene_variant MELA-AU 12 1693577 1693577 single base substitution G A intron_variant MELA-AU 12 1695562 1695562 single base substitution G A downstream_gene_variant MELA-AU 12 1695562 1695562 single base substitution G A intron_variant MELA-AU 12 1696319 1696319 single base substitution C T downstream_gene_variant MELA-AU 12 1696319 1696319 single base substitution C T intron_variant MELA-AU 12 1697303 1697303 single base substitution G A intron_variant MELA-AU 12 1697989 1697989 single base substitution T C intron_variant MELA-AU 12 1698737 1698737 single base substitution G A intron_variant MELA-AU 12 1699196 1699196 single base substitution G A intron_variant MELA-AU 12 1699467 1699467 single base substitution C T intron_variant MELA-AU 12 1700862 1700862 single base substitution C T intron_variant MELA-AU 12 1700898 1700898 deletion of <=200bp T - intron_variant MELA-AU 12 1706009 1706009 single base substitution G A upstream_gene_variant MELA-AU 12 1706597 1706597 single base substitution G A upstream_gene_variant MELA-AU 12 1707079 1707079 single base substitution A G upstream_gene_variant MELA-AU 12 1707519 1707519 single base substitution C T upstream_gene_variant MELA-AU 12 1708044 1708044 single base substitution G A upstream_gene_variant ORCA-IN 12 1673152 1673152 single base substitution G A downstream_gene_variant ORCA-IN 12 1680370 1680370 deletion of <=200bp G - intron_variant ORCA-IN 12 1688733 1688733 single base substitution C T intron_variant ORCA-IN 12 1702100 1702100 single base substitution G A exon_variant ORCA-IN 12 1702100 1702100 single base substitution G A missense_variant T378M 1133C>T OV-AU 12 1679569 1679569 single base substitution C G intron_variant OV-AU 12 1686326 1686326 single base substitution C G intron_variant OV-US 12 1702231 1702231 single base substitution C T synonymous_variant T334T 1002G>A OV-US 12 1702231 1702231 single base substitution C T upstream_gene_variant PACA-AU 12 1673871 1673871 single base substitution A C downstream_gene_variant PACA-AU 12 1673878 1673878 single base substitution T C downstream_gene_variant PACA-AU 12 1681888 1681888 single base substitution G A intron_variant PACA-AU 12 1689416 1689416 single base substitution C T intron_variant PACA-AU 12 1693086 1693086 single base substitution G C downstream_gene_variant PACA-AU 12 1693086 1693086 single base substitution G C intron_variant PACA-AU 12 1693420 1693420 single base substitution G T downstream_gene_variant PACA-AU 12 1693420 1693420 single base substitution G T intron_variant PACA-AU 12 1694129 1694129 single base substitution T G downstream_gene_variant PACA-AU 12 1694129 1694129 single base substitution T G intron_variant PACA-AU 12 1696360 1696360 single base substitution G A downstream_gene_variant PACA-AU 12 1696360 1696360 single base substitution G A intron_variant PACA-AU 12 1699227 1699227 single base substitution G A intron_variant PACA-AU 12 1703787 1703787 single base substitution G A upstream_gene_variant PACA-AU 12 1707679 1707679 single base substitution C G upstream_gene_variant PACA-CA 12 1674100 1674100 single base substitution G A downstream_gene_variant PACA-CA 12 1675852 1675852 single base substitution C T 3_prime_UTR_variant PACA-CA 12 1679866 1679866 single base substitution G A intron_variant PACA-CA 12 1680945 1680945 single base substitution T C intron_variant PACA-CA 12 1687835 1687835 single base substitution C A intron_variant PACA-CA 12 1693443 1693443 deletion of <=200bp G - downstream_gene_variant PACA-CA 12 1693443 1693443 deletion of <=200bp G - intron_variant PACA-CA 12 1693557 1693557 single base substitution A G downstream_gene_variant PACA-CA 12 1693557 1693557 single base substitution A G intron_variant PACA-CA 12 1696364 1696364 single base substitution T C downstream_gene_variant PACA-CA 12 1696364 1696364 single base substitution T C intron_variant PACA-CA 12 1698183 1698183 single base substitution G A intron_variant PACA-CA 12 1702765 1702765 single base substitution G A synonymous_variant I156I 468C>T PACA-CA 12 1702765 1702765 single base substitution G A upstream_gene_variant PBCA-DE 12 1675436 1675436 single base substitution G T 3_prime_UTR_variant PBCA-DE 12 1683564 1683564 insertion of <=200bp - A intron_variant PBCA-DE 12 1683646 1683646 deletion of <=200bp A - intron_variant PBCA-DE 12 1683672 1683672 single base substitution A G intron_variant PBCA-DE 12 1685555 1685555 single base substitution C T intron_variant PBCA-DE 12 1685850 1685850 single base substitution G A intron_variant PBCA-DE 12 1692290 1692290 insertion of <=200bp - A downstream_gene_variant PBCA-DE 12 1692290 1692290 insertion of <=200bp - A intron_variant PBCA-DE 12 1694421 1694421 single base substitution G A downstream_gene_variant PBCA-DE 12 1694421 1694421 single base substitution G A intron_variant PRAD-CA 12 1683750 1683750 single base substitution G A intron_variant PRAD-CA 12 1707597 1707597 single base substitution G A upstream_gene_variant PRAD-UK 12 1674860 1674860 single base substitution C G downstream_gene_variant PRAD-UK 12 1677175 1677175 single base substitution G A intron_variant PRAD-UK 12 1684276 1684276 single base substitution G C intron_variant PRAD-UK 12 1691387 1691387 single base substitution G A intron_variant PRAD-UK 12 1696175 1696175 single base substitution G A downstream_gene_variant PRAD-UK 12 1696175 1696175 single base substitution G A intron_variant PRAD-UK 12 1701357 1701357 insertion of <=200bp - TA intron_variant PRAD-UK 12 1704099 1704099 single base substitution T A upstream_gene_variant RECA-EU 12 1680265 1680265 single base substitution T C intron_variant RECA-EU 12 1693996 1693996 single base substitution G T downstream_gene_variant RECA-EU 12 1693996 1693996 single base substitution G T intron_variant RECA-EU 12 1694476 1694476 single base substitution A C downstream_gene_variant RECA-EU 12 1694476 1694476 single base substitution A C intron_variant RECA-EU 12 1695812 1695812 single base substitution G T downstream_gene_variant RECA-EU 12 1695812 1695812 single base substitution G T intron_variant RECA-EU 12 1695836 1695836 single base substitution A G downstream_gene_variant RECA-EU 12 1695836 1695836 single base substitution A G intron_variant RECA-EU 12 1699471 1699471 single base substitution C A intron_variant SKCA-BR 12 1671912 1671934 deletion of <=200bp TTGTGTGTGTGTGTGTGTGTGTG - downstream_gene_variant SKCA-BR 12 1673717 1673717 single base substitution A G downstream_gene_variant SKCA-BR 12 1674085 1674087 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 12 1674133 1674133 insertion of <=200bp - AAAAC downstream_gene_variant SKCA-BR 12 1674563 1674563 single base substitution C T downstream_gene_variant SKCA-BR 12 1675921 1675921 single base substitution C T missense_variant R417K 1250G>A SKCA-BR 12 1677484 1677484 single base substitution C T intron_variant SKCA-BR 12 1678145 1678145 single base substitution A G intron_variant SKCA-BR 12 1678563 1678564 deletion of <=200bp CT - intron_variant SKCA-BR 12 1679392 1679392 single base substitution G C intron_variant SKCA-BR 12 1680841 1680841 single base substitution A G intron_variant SKCA-BR 12 1683180 1683184 deletion of <=200bp GAAAA - intron_variant SKCA-BR 12 1683523 1683523 single base substitution G A intron_variant SKCA-BR 12 1683543 1683543 single base substitution G A intron_variant SKCA-BR 12 1683590 1683590 single base substitution G A intron_variant SKCA-BR 12 1686220 1686220 single base substitution T C intron_variant SKCA-BR 12 1692957 1692957 single base substitution A G downstream_gene_variant SKCA-BR 12 1692957 1692957 single base substitution A G intron_variant SKCA-BR 12 1693056 1693056 single base substitution A C downstream_gene_variant SKCA-BR 12 1693056 1693056 single base substitution A C intron_variant SKCA-BR 12 1699576 1699576 single base substitution T G intron_variant SKCA-BR 12 1702328 1702328 single base substitution T C missense_variant Q302R 905A>G SKCA-BR 12 1702328 1702328 single base substitution T C upstream_gene_variant SKCA-BR 12 1703264 1703264 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 12 1703264 1703264 single base substitution G C upstream_gene_variant SKCA-BR 12 1703995 1703995 single base substitution T C upstream_gene_variant SKCA-BR 12 1705930 1705930 single base substitution G A upstream_gene_variant SKCA-BR 12 1706678 1706700 deletion of <=200bp GTATATATATATATATATATATA - upstream_gene_variant SKCM-US 12 1675932 1675932 single base substitution C T synonymous_variant R413R 1239G>A SKCM-US 12 1675965 1675965 single base substitution C T synonymous_variant G402G 1206G>A SKCM-US 12 1702393 1702393 single base substitution G A synonymous_variant R280R 840C>T SKCM-US 12 1702393 1702393 single base substitution G A upstream_gene_variant SKCM-US 12 1702919 1702919 single base substitution T A missense_variant D105V 314A>T SKCM-US 12 1702919 1702919 single base substitution T A upstream_gene_variant STAD-US 12 1675940 1675940 single base substitution T G synonymous_variant R411R 1231A>C STAD-US 12 1702997 1702997 single base substitution C T missense_variant R79H 236G>A STAD-US 12 1702997 1702997 single base substitution C T upstream_gene_variant UCEC-US 12 1702201 1702201 single base substitution C T exon_variant UCEC-US 12 1702201 1702201 single base substitution C T synonymous_variant T344T 1032G>A UCEC-US 12 1702232 1702232 single base substitution G A missense_variant T334M 1001C>T UCEC-US 12 1702232 1702232 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC197T COSM3753075 c.321G>A p.G107G Substitution - coding silent 12:1593746-1593746 - PTC-73C COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - HCT15 COSM2003449 c.1137G>A p.Q379Q Substitution - coding silent 12:1592930-1592930 - TCGA-22-4613-01 COSM692989 c.510C>A p.R170R Substitution - coding silent 12:1593557-1593557 - T18 COSM5618962 c.1014A>G p.G338G Substitution - coding silent 12:1593053-1593053 - HCT8 COSM2003449 c.1137G>A p.Q379Q Substitution - coding silent 12:1592930-1592930 - CSCC-45-T COSM4512850 c.919C>T p.L307F Substitution - Missense 12:1593148-1593148 - OSCC-GB_00130111 COSM2003450 c.1133C>T p.T378M Substitution - Missense 12:1592934-1592934 - T613 COSM4683862 c.981G>A p.R327R Substitution - coding silent 12:1593086-1593086 - TCGA-FS-A4F0-06 COSM3458693 c.314A>T p.D105V Substitution - Missense 12:1593753-1593753 - TCGA-A7-A5ZV-01 COSM3811605 c.1035C>G p.D345E Substitution - Missense 12:1593032-1593032 - HH14 COSM3728062 c.362C>A p.A121D Substitution - Missense 12:1593705-1593705 - sysucc-834T COSM5485572 c.674G>A p.R225Q Substitution - Missense 12:1593393-1593393 - TCGA-AN-A0AK-01 COSM3811607 c.348C>A p.I116I Substitution - coding silent 12:1593719-1593719 - 2492730 COSM5728171 c.1166G>A p.G389E Substitution - Missense 12:1592901-1592901 - 2492729 COSM5725794 c.499G>A p.G167S Substitution - Missense 12:1593568-1593568 - TCGA-D8-A1X7-01 COSM1476389 c.353C>T p.S118F Substitution - Missense 12:1593714-1593714 - TCGA-B5-A11Y-01 COSM937670 c.1001C>T p.T334M Substitution - Missense 12:1593066-1593066 - S00501 COSM311122 c.335T>C p.F112S Substitution - Missense 12:1593732-1593732 - SC_9008 COSM5565925 c.1202G>A p.R401Q Substitution - Missense 12:1566803-1566803 - ESCC_133 COSM5642475 c.958G>T p.D320Y Substitution - Missense 12:1593109-1593109 - B96 COSM1746872 c.343G>A p.E115K Substitution - Missense 12:1593724-1593724 - TCGA-G4-6588-01 COSM1360444 c.1241delG p.G414fs*>5 Deletion - Frameshift 12:1566764-1566764 - HCT15 COSM2003475 c.402C>T p.S134S Substitution - coding silent 12:1593665-1593665 - UM-SCC-4 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - S02375 COSM5696412 c.387G>A p.Q129Q Substitution - coding silent 12:1593680-1593680 - CHEWS012 COSM2003484 c.285C>T p.L95L Substitution - coding silent 12:1593782-1593782 - WSU-HN30 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - PR-04-639 COSM244465 c.575G>A p.G192D Substitution - Missense 12:1593492-1593492 - B96-Tumor COSM1746871 c.548C>A p.S183* Substitution - Nonsense 12:1593519-1593519 - CAL27 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - TCGA-A6-6140-01 COSM3753075 c.321G>A p.G107G Substitution - coding silent 12:1593746-1593746 - TCGA-FS-A1Z0-06 COSM3458691 c.1206G>A p.G402G Substitution - coding silent 12:1566799-1566799 - TCGA-HU-A4GH-01 COSM4040627 c.1231A>C p.R411R Substitution - coding silent 12:1566774-1566774 - TCGA-AR-A2LN-01 COSM3811606 c.348C>T p.I116I Substitution - coding silent 12:1593719-1593719 - TCGA-FW-A3TU-06 COSM3458692 c.840C>T p.R280R Substitution - coding silent 12:1593227-1593227 - TARGET-30-PARKNP COSM1284922 c.726G>A p.S242S Substitution - coding silent 12:1593341-1593341 - T30 COSM5619237 c.684G>C p.T228T Substitution - coding silent 12:1593383-1593383 - TCGA-DK-A3IK-01 COSM1299195 c.294C>T p.S98S Substitution - coding silent 12:1593773-1593773 - LUAD-S01405 COSM398909 c.109G>A p.D37N Substitution - Missense 12:1593958-1593958 - WSU-HN6 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - TCGA-BR-8363-01 COSM4040628 c.236G>A p.R79H Substitution - Missense 12:1593831-1593831 - 13T COSM2003450 c.1133C>T p.T378M Substitution - Missense 12:1592934-1592934 - TCGA-LP-A5U2-01 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - T3174 COSM4683863 c.442C>T p.L148L Substitution - coding silent 12:1593625-1593625 - TCGA-B0-5098-01 COSM1492832 c.1174C>T p.Q392* Substitution - Nonsense 12:1592893-1592893 - CSCC-4-T COSM4504192 c.658C>T p.L220L Substitution - coding silent 12:1593409-1593409 - TCGA-LP-A7HU-01 COSM4512850 c.919C>T p.L307F Substitution - Missense 12:1593148-1593148 - WSU-HN13 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - TCGA-EE-A2MJ-06 COSM3458690 c.1239G>A p.R413R Substitution - coding silent 12:1566766-1566766 - B96-Tumor COSM1746872 c.343G>A p.E115K Substitution - Missense 12:1593724-1593724 - 503LT COSM4386164 c.673C>T p.R225* Substitution - Nonsense 12:1593394-1593394 - TCGA-AP-A0LP-01 COSM937669 c.1032G>A p.T344T Substitution - coding silent 12:1593035-1593035 - TCGA-13-0755-01 COSM81177 c.1002G>A p.T334T Substitution - coding silent 12:1593065-1593065 - UM-SCC-17B COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - S00501 COSM311122 c.335T>C p.F112S Substitution - Missense 12:1593732-1593732 - LUAD-RT-S01813 COSM383084 c.941C>A p.S314Y Substitution - Missense 12:1593126-1593126 - DLD1 COSM2003449 c.1137G>A p.Q379Q Substitution - coding silent 12:1592930-1592930 - DLD1 COSM2003475 c.402C>T p.S134S Substitution - coding silent 12:1593665-1593665 - BK0021 COSM4186300 c.359G>C p.R120P Substitution - Missense 12:1593708-1593708 - B96 COSM1746871 c.548C>A p.S183* Substitution - Nonsense 12:1593519-1593519 - ORL-48 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - TCGA-CJ-4916-01 COSM468098 c.1037A>G p.K346R Substitution - Missense 12:1593030-1593030 - ACINAR01 COSM1733449 c.1237C>T p.R413W Substitution - Missense 12:1566768-1566768 - PTC-14C COSM4146936 c.509G>T p.R170L Substitution - Missense 12:1593558-1593558 - BICR_22 COSM4146937 c.143T>G p.V48G Substitution - Missense 12:1593924-1593924 - TCGA-G3-A25T-01 COSM4941577 c.383A>G p.K128R Substitution - Missense 12:1593684-1593684 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.367953;Hs.367956 12p13.33 609081

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L162R c.485T>G 12 1702748 STAD A C Missense p.V48G c.143T>G 12 1703090 PRAD A G Missense p.F112S c.335T>C 12 1702898 SCLC C T Synonymous p.G402G c.1206G>A 12 1675965 CM C T Synonymous p.R413R c.1239G>A 12 1675932 CM C T Synonymous p.S242S c.726G>A 12 1702507 NB C T Synonymous p.T334T c.1002G>A 12 1702231 OV C T Synonymous p.T344T c.1032G>A 12 1702201 UCEC G A Missense p.P381S c.1141C>T 12 1702092 LUAD G A Missense p.S118F c.353C>T 12 1702880 BRCA G A Missense p.T334M c.1001C>T 12 1702232 UCEC G A Synonymous p.S98S c.294C>T 12 1702939 BLCA GG AA 3-UTRBlockSubstitution . c.1254+185_1254+186delinsTT 12 1675731 CM G T 3-UTRSNV . c.1254+481C>A 12 1675436 MB G T Synonymous p.R170R c.510C>A 12 1702723 LUSC T C Missense p.K346R c.1037A>G 12 1702196 RCCC