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 19 4047820 4047820 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr19:4047820C>T c.1685G>A c.(1684-1686)gGt>gAt p.G562D BLCA 19 4048019 4048019 + Missense_Mutation SNP G G A TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr19:4048019G>A c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C BLCA 19 4048050 4048050 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr19:4048050G>A c.1455C>T c.(1453-1455)ctC>ctT p.L485L BLCA 19 4048152 4048152 + Silent SNP G G A TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr19:4048152G>A c.1353C>T c.(1351-1353)taC>taT p.Y451Y BLCA 19 4048230 4048230 + Silent SNP C C T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr19:4048230C>T c.1275G>A c.(1273-1275)ctG>ctA p.L425L BLCA 19 4054074 4054074 + Missense_Mutation SNP A A T TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr19:4054074A>T c.1157T>A c.(1156-1158)aTc>aAc p.I386N BLCA 19 4054957 4054957 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 g.chr19:4054957C>T c.274G>A c.(274-276)Gcc>Acc p.A92T BLCA 19 4055075 4055075 + Silent SNP C C T TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr19:4055075C>T c.156G>A c.(154-156)ctG>ctA p.L52L BRCA 19 4054874 4054874 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr19:4054874C>T c.357G>A c.(355-357)gtG>gtA p.V119V BRCA 19 4055153 4055153 + Silent SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr19:4055153C>T c.78G>A c.(76-78)gaG>gaA p.E26E CESC 19 4054349 4054349 + Silent SNP C C A TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr19:4054349C>A c.882G>T c.(880-882)ccG>ccT p.P294P CESC 19 4054708 4054709 + Frame_Shift_Ins INS - - G TCGA-EA-A6QX-01A-12D-A33O-09 TCGA-EA-A6QX-10B-01D-A33O-09 g.chr19:4054708_4054709insG c.522_523insC c.(520-525)cccgcgfs p.A175fs CESC 19 4054919 4054919 + Silent SNP C C A TCGA-C5-A7UE-01A-11D-A33O-09 TCGA-C5-A7UE-10A-01D-A33O-09 g.chr19:4054919C>A c.312G>T c.(310-312)gtG>gtT p.V104V CHOL 19 4053996 4053996 + Missense_Mutation SNP C C T TCGA-ZH-A8Y5-01A-11D-A417-09 TCGA-ZH-A8Y5-10A-01D-A41A-09 g.chr19:4053996C>T c.1235G>A c.(1234-1236)tGc>tAc p.C412Y COAD 19 4047941 4047941 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr19:4047941C>T c.1564G>A c.(1564-1566)Gcc>Acc p.A522T COAD 19 4053968 4053968 + Splice_Site SNP C C T TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr19:4053968C>T c.e2+1 COAD 19 4054014 4054014 + Missense_Mutation SNP C C A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr19:4054014C>A c.1217G>T c.(1216-1218)gGc>gTc p.G406V COAD 19 4054020 4054020 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:4054020T>C c.1211A>G c.(1210-1212)cAc>cGc p.H404R COAD 19 4054814 4054814 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:4054814G>A c.417C>T c.(415-417)gaC>gaT p.D139D COADREAD 19 4047941 4047941 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr19:4047941C>T c.1564G>A c.(1564-1566)Gcc>Acc p.A522T COADREAD 19 4053968 4053968 + Splice_Site SNP C C T TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr19:4053968C>T c.e2+1 COADREAD 19 4054014 4054014 + Missense_Mutation SNP C C A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr19:4054014C>A c.1217G>T c.(1216-1218)gGc>gTc p.G406V COADREAD 19 4054020 4054020 + Missense_Mutation SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr19:4054020T>C c.1211A>G c.(1210-1212)cAc>cGc p.H404R COADREAD 19 4054676 4054676 + Nonsense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr19:4054676C>T c.555G>A c.(553-555)tgG>tgA p.W185* COADREAD 19 4054814 4054814 + Silent SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr19:4054814G>A c.417C>T c.(415-417)gaC>gaT p.D139D ESCA 19 4048040 4048040 + Missense_Mutation SNP C C T TCGA-VR-A8Q7-01A-11D-A37C-09 TCGA-VR-A8Q7-10A-01D-A37F-09 g.chr19:4048040C>T c.1465G>A c.(1465-1467)Ggc>Agc p.G489S ESCA 19 4054661 4054661 + Silent SNP C C T TCGA-IG-A625-01A-11D-A31U-09 TCGA-IG-A625-10A-01D-A31U-09 g.chr19:4054661C>T c.570G>A c.(568-570)gcG>gcA p.A190A GBMLGG 19 4054026 4054026 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054026C>T c.1205G>A c.(1204-1206)cGc>cAc p.R402H GBMLGG 19 4054046 4054046 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054046G>A c.1185C>T c.(1183-1185)ggC>ggT p.G395G GBMLGG 19 4054174 4054174 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054174G>T c.1057C>A c.(1057-1059)Ctg>Atg p.L353M HNSC 19 4054047 4054047 + Missense_Mutation SNP C C T TCGA-CN-A63T-01A-11D-A28R-08 TCGA-CN-A63T-10A-01D-A28U-08 g.chr19:4054047C>T c.1184G>A c.(1183-1185)gGc>gAc p.G395D HNSC 19 4054160 4054160 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr19:4054160G>T c.1071C>A c.(1069-1071)agC>agA p.S357R HNSC 19 4054266 4054266 + Missense_Mutation SNP T T A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr19:4054266T>A c.965A>T c.(964-966)cAg>cTg p.Q322L HNSC 19 4054877 4054877 + Silent SNP G G A TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr19:4054877G>A c.354C>T c.(352-354)gcC>gcT p.A118A HNSC 19 4054997 4054997 + Missense_Mutation SNP G G C TCGA-CR-7383-01A-11D-2129-08 TCGA-CR-7383-10A-01D-2129-08 g.chr19:4054997G>C c.234C>G c.(232-234)gaC>gaG p.D78E KIPAN 19 4048233 4048233 + Missense_Mutation SNP C C A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr19:4048233C>A c.1272G>T c.(1270-1272)aaG>aaT p.K424N KIRC 19 4048233 4048233 + Missense_Mutation SNP C C A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr19:4048233C>A c.1272G>T c.(1270-1272)aaG>aaT p.K424N LGG 19 4054026 4054026 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054026C>T c.1205G>A c.(1204-1206)cGc>cAc p.R402H LGG 19 4054046 4054046 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054046G>A c.1185C>T c.(1183-1185)ggC>ggT p.G395G LGG 19 4054174 4054174 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr19:4054174G>T c.1057C>A c.(1057-1059)Ctg>Atg p.L353M LIHC 19 4055085 4055085 + Missense_Mutation SNP C C T TCGA-DD-A4NH-01A-11D-A27I-10 TCGA-DD-A4NH-10A-01D-A27I-10 g.chr19:4055085C>T c.146G>A c.(145-147)cGc>cAc p.R49H LUAD 19 4047778 4047778 + Missense_Mutation SNP T T A TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr19:4047778T>A c.1727A>T c.(1726-1728)gAc>gTc p.D576V LUAD 19 4055177 4055177 + Silent SNP G G A TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr19:4055177G>A c.54C>T c.(52-54)agC>agT p.S18S LUSC 19 4054023 4054023 + Missense_Mutation SNP G G T TCGA-66-2786-01A-01D-1522-08 TCGA-66-2786-11A-01D-1522-08 g.chr19:4054023G>T c.1208C>A c.(1207-1209)aCc>aAc p.T403N LUSC 19 4054254 4054254 + Missense_Mutation SNP G G A TCGA-22-5474-01A-01D-1632-08 TCGA-22-5474-11A-01D-1632-08 g.chr19:4054254G>A c.977C>T c.(976-978)tCg>tTg p.S326L PRAD 19 4048173 4048173 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:4048173G>A c.1332C>T c.(1330-1332)ggC>ggT p.G444G PRAD 19 4054211 4054211 + Missense_Mutation SNP C C A TCGA-VN-A88P-01A-11D-A34U-08 TCGA-VN-A88P-10A-01D-A34X-08 g.chr19:4054211C>A c.1020G>T c.(1018-1020)gaG>gaT p.E340D PRAD 19 4054988 4054988 + Silent SNP G G A TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 g.chr19:4054988G>A c.243C>T c.(241-243)agC>agT p.S81S READ 19 4054676 4054676 + Nonsense_Mutation SNP C C T TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chr19:4054676C>T c.555G>A c.(553-555)tgG>tgA p.W185* SARC 19 4048115 4048115 + Missense_Mutation SNP G G A TCGA-DX-AB2H-01A-11D-A38Z-09 TCGA-DX-AB2H-10A-01D-A38Z-09 g.chr19:4048115G>A c.1390C>T c.(1390-1392)Cgc>Tgc p.R464C SKCM 19 4048123 4048123 + Missense_Mutation SNP G G A TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr19:4048123G>A c.1382C>T c.(1381-1383)aCg>aTg p.T461M SKCM 19 4054105 4054107 + In_Frame_Del DEL TCT TCT - TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr19:4054105_4054107delTCT c.1124_1126delAGA c.(1123-1128)aagatc>atc p.K375del SKCM 19 4054599 4054607 + In_Frame_Del DEL GCGGCCACG GCGGCCACG - TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr19:4054599_4054607delGCGGCCACG c.624_632delCGTGGCCGC c.(622-633)gccgtggccgcg>gcg p.208_211AVAA>A SKCM 19 4054681 4054681 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr19:4054681G>A c.550C>T c.(550-552)Ccg>Tcg p.P184S SKCM 19 4054881 4054881 + Missense_Mutation SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr19:4054881G>A c.350C>T c.(349-351)cCc>cTc p.P117L SKCM 19 4054985 4054985 + Silent SNP G G A TCGA-FS-A1ZB-06A-12D-A197-08 TCGA-FS-A1ZB-10A-01D-A199-08 g.chr19:4054985G>A c.246C>T c.(244-246)gcC>gcT p.A82A SKCM 19 4055191 4055191 + Missense_Mutation SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr19:4055191G>A c.40C>T c.(40-42)Ccc>Tcc p.P14S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 4047798 4047798 single base substitution A C synonymous_variant G569G 1707T>G BLCA-CN 19 4048108 4048108 single base substitution T G missense_variant Y466S 1397A>C BLCA-US 19 4047820 4047820 single base substitution C T missense_variant G562D 1685G>A BLCA-US 19 4048050 4048050 single base substitution G A synonymous_variant L485L 1455C>T BLCA-US 19 4048230 4048230 single base substitution C T synonymous_variant L425L 1275G>A BLCA-US 19 4054074 4054074 single base substitution A T missense_variant I386N 1157T>A BRCA-EU 19 4039965 4039965 single base substitution C G downstream_gene_variant BRCA-EU 19 4040151 4040151 deletion of <=200bp A - downstream_gene_variant BRCA-EU 19 4040433 4040433 single base substitution G A downstream_gene_variant BRCA-EU 19 4041303 4041303 single base substitution T C downstream_gene_variant BRCA-EU 19 4043357 4043357 single base substitution G C downstream_gene_variant BRCA-EU 19 4043835 4043835 deletion of <=200bp A - downstream_gene_variant BRCA-EU 19 4044467 4044468 deletion of <=200bp TC - 3_prime_UTR_variant BRCA-EU 19 4044467 4044468 deletion of <=200bp TC - downstream_gene_variant BRCA-EU 19 4044681 4044681 insertion of <=200bp - C 3_prime_UTR_variant BRCA-EU 19 4044681 4044681 insertion of <=200bp - C downstream_gene_variant BRCA-EU 19 4045132 4045132 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 4045132 4045132 single base substitution G A downstream_gene_variant BRCA-EU 19 4045616 4045616 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 19 4045616 4045616 deletion of <=200bp G - downstream_gene_variant BRCA-EU 19 4049894 4049894 single base substitution C G intron_variant BRCA-EU 19 4052366 4052366 single base substitution C A intron_variant BRCA-EU 19 4052821 4052821 single base substitution G A intron_variant BRCA-EU 19 4058483 4058483 single base substitution G C intron_variant BRCA-EU 19 4059105 4059105 single base substitution G C intron_variant BRCA-EU 19 4059416 4059416 single base substitution C T intron_variant BRCA-EU 19 4059475 4059475 single base substitution G A intron_variant BRCA-EU 19 4061735 4061735 single base substitution G A intron_variant BRCA-EU 19 4061788 4061788 single base substitution G C intron_variant BRCA-EU 19 4062084 4062084 single base substitution G A intron_variant BRCA-EU 19 4063879 4063879 single base substitution G A intron_variant BRCA-EU 19 4065498 4065498 single base substitution G A 5_prime_UTR_variant BRCA-EU 19 4065498 4065498 single base substitution G A intron_variant BRCA-EU 19 4067002 4067002 single base substitution G T upstream_gene_variant BRCA-EU 19 4067363 4067363 single base substitution G C upstream_gene_variant BRCA-EU 19 4070326 4070326 single base substitution C G upstream_gene_variant BRCA-EU 19 4071143 4071143 single base substitution C A upstream_gene_variant BRCA-FR 19 4040027 4040027 single base substitution T C downstream_gene_variant BRCA-FR 19 4043357 4043357 single base substitution G C downstream_gene_variant BRCA-FR 19 4045132 4045132 single base substitution G A 3_prime_UTR_variant BRCA-FR 19 4045132 4045132 single base substitution G A downstream_gene_variant BRCA-FR 19 4048383 4048383 single base substitution G A intron_variant BRCA-FR 19 4052821 4052821 single base substitution G A intron_variant BRCA-FR 19 4055936 4055936 single base substitution C G intron_variant BRCA-FR 19 4058063 4058063 single base substitution T G intron_variant BRCA-FR 19 4058483 4058483 single base substitution G C intron_variant BRCA-FR 19 4061735 4061735 single base substitution G A intron_variant BRCA-FR 19 4061788 4061788 single base substitution G C intron_variant BRCA-FR 19 4066973 4066973 single base substitution A C upstream_gene_variant BRCA-FR 19 4067002 4067002 single base substitution G T upstream_gene_variant BRCA-FR 19 4067363 4067363 single base substitution G C upstream_gene_variant BRCA-US 19 4054874 4054874 single base substitution C T synonymous_variant V119V 357G>A BRCA-US 19 4055153 4055153 single base substitution C T synonymous_variant E26E 78G>A BTCA-JP 19 4042291 4042291 single base substitution G C downstream_gene_variant BTCA-JP 19 4048172 4048172 single base substitution C T missense_variant A445T 1333G>A BTCA-JP 19 4054301 4054301 single base substitution G A synonymous_variant D310D 930C>T BTCA-JP 19 4054832 4054832 single base substitution C T synonymous_variant A133A 399G>A CESC-US 19 4054349 4054349 single base substitution C A synonymous_variant P294P 882G>T CESC-US 19 4054708 4054708 insertion of <=200bp - G frameshift_variant A175A? CESC-US 19 4054919 4054919 single base substitution C A synonymous_variant V104V 312G>T CLLE-ES 19 4042027 4042027 single base substitution T A downstream_gene_variant COAD-US 19 4048234 4048234 single base substitution T G missense_variant K424T 1271A>C COAD-US 19 4054814 4054814 single base substitution G A synonymous_variant D139D 417C>T COAD-US 19 4054859 4054859 single base substitution G A synonymous_variant A124A 372C>T COAD-US 19 4055203 4055203 single base substitution C T missense_variant G10R 28G>A COCA-CN 19 4048225 4048225 single base substitution A G missense_variant V427A 1280T>C COCA-CN 19 4054211 4054211 single base substitution C T synonymous_variant E340E 1020G>A COCA-CN 19 4055144 4055144 single base substitution C A synonymous_variant T29T 87G>T COCA-CN 19 4059576 4059576 single base substitution A C intron_variant EOPC-DE 19 4070396 4070396 single base substitution T G upstream_gene_variant ESAD-UK 19 4041722 4041722 single base substitution G A downstream_gene_variant ESAD-UK 19 4043304 4043304 single base substitution C T downstream_gene_variant ESAD-UK 19 4047406 4047406 single base substitution G C 3_prime_UTR_variant ESAD-UK 19 4047406 4047406 single base substitution G C downstream_gene_variant ESAD-UK 19 4047699 4047699 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 4047699 4047699 single base substitution C T downstream_gene_variant ESAD-UK 19 4048101 4048101 single base substitution G A synonymous_variant C468C 1404C>T ESAD-UK 19 4049384 4049384 single base substitution A T intron_variant ESAD-UK 19 4050526 4050526 single base substitution G A intron_variant ESAD-UK 19 4050793 4050793 single base substitution A G intron_variant ESAD-UK 19 4054721 4054721 single base substitution G A synonymous_variant N170N 510C>T ESAD-UK 19 4054958 4054958 single base substitution G C missense_variant F91L 273C>G ESAD-UK 19 4057401 4057401 single base substitution C G intron_variant ESAD-UK 19 4059003 4059003 single base substitution G A intron_variant ESAD-UK 19 4059266 4059266 single base substitution G A intron_variant ESAD-UK 19 4059302 4059302 single base substitution G T intron_variant ESAD-UK 19 4062221 4062221 single base substitution G A intron_variant ESAD-UK 19 4063277 4063277 single base substitution G T intron_variant ESAD-UK 19 4064510 4064510 single base substitution C T intron_variant ESAD-UK 19 4064520 4064520 single base substitution C A intron_variant ESAD-UK 19 4066831 4066831 single base substitution C T 5_prime_UTR_variant ESAD-UK 19 4066831 4066831 single base substitution C T upstream_gene_variant ESAD-UK 19 4067964 4067964 single base substitution G T upstream_gene_variant ESAD-UK 19 4069506 4069506 single base substitution G A upstream_gene_variant ESCA-CN 19 4054463 4054463 single base substitution G C synonymous_variant L256L 768C>G KIRC-US 19 4048233 4048233 single base substitution C A missense_variant K424N 1272G>T LAML-KR 19 4041122 4041122 single base substitution C T downstream_gene_variant LAML-KR 19 4041841 4041841 single base substitution T G downstream_gene_variant LAML-KR 19 4044682 4044682 single base substitution C T 3_prime_UTR_variant LAML-KR 19 4044682 4044682 single base substitution C T downstream_gene_variant LAML-KR 19 4057239 4057239 single base substitution G A intron_variant LAML-KR 19 4057254 4057254 single base substitution G A intron_variant LAML-KR 19 4071096 4071096 single base substitution C T upstream_gene_variant LICA-CN 19 4054699 4054699 single base substitution C T missense_variant A178T 532G>A LICA-FR 19 4041478 4041478 single base substitution C G downstream_gene_variant LICA-FR 19 4047469 4047469 single base substitution G A 3_prime_UTR_variant LICA-FR 19 4047469 4047469 single base substitution G A downstream_gene_variant LINC-JP 19 4053989 4053989 single base substitution G A synonymous_variant I414I 1242C>T LINC-JP 19 4054060 4054060 single base substitution T G missense_variant I391L 1171A>C LINC-JP 19 4054380 4054380 single base substitution G A missense_variant S284L 851C>T LINC-JP 19 4055085 4055085 single base substitution C T missense_variant R49H 146G>A LINC-JP 19 4055167 4055167 single base substitution T G missense_variant S22R 64A>C LINC-JP 19 4061611 4061611 single base substitution C A intron_variant LIRI-JP 19 4039779 4039779 single base substitution G C downstream_gene_variant LIRI-JP 19 4039952 4039952 single base substitution G A downstream_gene_variant LIRI-JP 19 4040707 4040707 single base substitution A G downstream_gene_variant LIRI-JP 19 4040735 4040735 single base substitution A G downstream_gene_variant LIRI-JP 19 4050646 4050646 single base substitution A T intron_variant LIRI-JP 19 4050675 4050675 single base substitution A G intron_variant LIRI-JP 19 4054014 4054014 single base substitution C A missense_variant G406V 1217G>T LIRI-JP 19 4056687 4056687 single base substitution G A intron_variant LIRI-JP 19 4059618 4059618 single base substitution G T intron_variant LIRI-JP 19 4063858 4063858 single base substitution C T intron_variant LIRI-JP 19 4068620 4068620 single base substitution G T upstream_gene_variant LIRI-JP 19 4071341 4071341 single base substitution G A upstream_gene_variant LIRI-JP 19 4071778 4071778 single base substitution G A upstream_gene_variant LIRI-JP 19 4071809 4071809 single base substitution A G upstream_gene_variant LUSC-KR 19 4042553 4042553 single base substitution G A downstream_gene_variant LUSC-KR 19 4042602 4042602 single base substitution G A downstream_gene_variant LUSC-KR 19 4043701 4043701 single base substitution T C downstream_gene_variant LUSC-KR 19 4043795 4043795 single base substitution A C downstream_gene_variant LUSC-KR 19 4047324 4047324 single base substitution C G 3_prime_UTR_variant LUSC-KR 19 4047324 4047324 single base substitution C G downstream_gene_variant LUSC-KR 19 4054594 4054594 single base substitution C T missense_variant D213N 637G>A LUSC-KR 19 4054810 4054810 single base substitution C A missense_variant G141W 421G>T LUSC-KR 19 4065001 4065001 single base substitution T A intron_variant LUSC-KR 19 4070216 4070216 single base substitution C G upstream_gene_variant LUSC-US 19 4054023 4054023 single base substitution G T missense_variant T403N 1208C>A LUSC-US 19 4054254 4054254 single base substitution G A missense_variant S326L 977C>T MALY-DE 19 4042481 4042481 single base substitution G A downstream_gene_variant MALY-DE 19 4051599 4051599 single base substitution T G intron_variant MALY-DE 19 4055043 4055043 single base substitution A G missense_variant F63S 188T>C MALY-DE 19 4060444 4060444 single base substitution G T intron_variant MALY-DE 19 4060555 4060555 single base substitution C T intron_variant MALY-DE 19 4065059 4065059 single base substitution C T intron_variant MELA-AU 19 4040567 4040567 single base substitution G A downstream_gene_variant MELA-AU 19 4040593 4040593 deletion of <=200bp A - downstream_gene_variant MELA-AU 19 4040862 4040862 single base substitution T C downstream_gene_variant MELA-AU 19 4041502 4041502 single base substitution G A downstream_gene_variant MELA-AU 19 4043541 4043541 single base substitution G A downstream_gene_variant MELA-AU 19 4044085 4044085 single base substitution C G downstream_gene_variant MELA-AU 19 4044188 4044188 single base substitution G A downstream_gene_variant MELA-AU 19 4044810 4044810 single base substitution C T 3_prime_UTR_variant MELA-AU 19 4044810 4044810 single base substitution C T downstream_gene_variant MELA-AU 19 4045205 4045207 deletion of <=200bp GAC - 3_prime_UTR_variant MELA-AU 19 4045205 4045207 deletion of <=200bp GAC - downstream_gene_variant MELA-AU 19 4047521 4047522 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 19 4047521 4047522 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 19 4047536 4047536 single base substitution G A 3_prime_UTR_variant MELA-AU 19 4047536 4047536 single base substitution G A downstream_gene_variant MELA-AU 19 4047675 4047675 single base substitution G A 3_prime_UTR_variant MELA-AU 19 4047675 4047675 single base substitution G A downstream_gene_variant MELA-AU 19 4047676 4047676 single base substitution G A 3_prime_UTR_variant MELA-AU 19 4047676 4047676 single base substitution G A downstream_gene_variant MELA-AU 19 4048259 4048259 single base substitution G A intron_variant MELA-AU 19 4048354 4048354 single base substitution G A intron_variant MELA-AU 19 4048407 4048407 single base substitution G A intron_variant MELA-AU 19 4048600 4048600 single base substitution G A intron_variant MELA-AU 19 4049402 4049402 single base substitution G T intron_variant MELA-AU 19 4049488 4049488 single base substitution C T intron_variant MELA-AU 19 4049731 4049731 single base substitution C T intron_variant MELA-AU 19 4051339 4051339 single base substitution G A intron_variant MELA-AU 19 4051437 4051437 single base substitution C T intron_variant MELA-AU 19 4052545 4052545 single base substitution G A intron_variant MELA-AU 19 4053044 4053044 single base substitution C T intron_variant MELA-AU 19 4053318 4053318 single base substitution G A intron_variant MELA-AU 19 4053345 4053345 single base substitution G A intron_variant MELA-AU 19 4054630 4054631 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant EA200ET MELA-AU 19 4054765 4054765 single base substitution G A missense_variant R156C 466C>T MELA-AU 19 4054831 4054831 single base substitution C T missense_variant A134T 400G>A MELA-AU 19 4055438 4055438 single base substitution G A intron_variant MELA-AU 19 4056551 4056551 single base substitution G A intron_variant MELA-AU 19 4056664 4056664 single base substitution G A intron_variant MELA-AU 19 4057096 4057096 single base substitution C T intron_variant MELA-AU 19 4057270 4057270 single base substitution C G intron_variant MELA-AU 19 4057946 4057946 single base substitution G A intron_variant MELA-AU 19 4058193 4058193 single base substitution A G intron_variant MELA-AU 19 4059167 4059167 single base substitution G A intron_variant MELA-AU 19 4059993 4059993 single base substitution G A intron_variant MELA-AU 19 4060328 4060328 single base substitution G A intron_variant MELA-AU 19 4060636 4060636 single base substitution C T intron_variant MELA-AU 19 4060829 4060830 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 4061238 4061238 single base substitution G A intron_variant MELA-AU 19 4061985 4061985 single base substitution C A intron_variant MELA-AU 19 4062778 4062778 single base substitution C G intron_variant MELA-AU 19 4063665 4063665 single base substitution A C intron_variant MELA-AU 19 4064685 4064685 single base substitution G A intron_variant MELA-AU 19 4064980 4064980 single base substitution G C intron_variant MELA-AU 19 4065042 4065042 single base substitution G A intron_variant MELA-AU 19 4065659 4065659 single base substitution G A 5_prime_UTR_variant MELA-AU 19 4065659 4065659 single base substitution G A intron_variant MELA-AU 19 4067992 4067992 single base substitution G C upstream_gene_variant MELA-AU 19 4068659 4068659 single base substitution G T upstream_gene_variant MELA-AU 19 4069030 4069030 insertion of <=200bp - GTGT upstream_gene_variant MELA-AU 19 4069175 4069175 single base substitution T C upstream_gene_variant MELA-AU 19 4069177 4069177 single base substitution C T upstream_gene_variant MELA-AU 19 4069343 4069343 single base substitution C T upstream_gene_variant MELA-AU 19 4069449 4069449 single base substitution C T upstream_gene_variant MELA-AU 19 4069560 4069560 single base substitution G A upstream_gene_variant MELA-AU 19 4069738 4069738 single base substitution C T upstream_gene_variant MELA-AU 19 4070594 4070594 single base substitution G A upstream_gene_variant MELA-AU 19 4070634 4070634 single base substitution G A upstream_gene_variant MELA-AU 19 4070648 4070648 deletion of <=200bp G - upstream_gene_variant MELA-AU 19 4070705 4070705 single base substitution A C upstream_gene_variant MELA-AU 19 4070763 4070763 single base substitution G A upstream_gene_variant MELA-AU 19 4071167 4071167 single base substitution C T upstream_gene_variant MELA-AU 19 4071182 4071182 single base substitution C T upstream_gene_variant MELA-AU 19 4071289 4071289 single base substitution G A upstream_gene_variant MELA-AU 19 4071316 4071316 single base substitution C T upstream_gene_variant ORCA-IN 19 4048163 4048163 single base substitution C T missense_variant A448T 1342G>A ORCA-IN 19 4055787 4055787 single base substitution C G intron_variant ORCA-IN 19 4057144 4057144 single base substitution C G intron_variant OV-AU 19 4051935 4051935 single base substitution G C intron_variant OV-AU 19 4058275 4058275 single base substitution G A intron_variant OV-AU 19 4060170 4060170 single base substitution G A intron_variant OV-AU 19 4062986 4062986 single base substitution G A intron_variant OV-AU 19 4066436 4066436 single base substitution G A intron_variant OV-AU 19 4066436 4066436 single base substitution G A upstream_gene_variant OV-AU 19 4069731 4069731 single base substitution C G upstream_gene_variant OV-AU 19 4071761 4071761 single base substitution T A upstream_gene_variant PACA-AU 19 4043434 4043434 single base substitution A G downstream_gene_variant PACA-AU 19 4044660 4044660 single base substitution A G 3_prime_UTR_variant PACA-AU 19 4044660 4044660 single base substitution A G downstream_gene_variant PACA-AU 19 4046042 4046042 single base substitution G C 3_prime_UTR_variant PACA-AU 19 4046042 4046042 single base substitution G C downstream_gene_variant PACA-AU 19 4046931 4046931 single base substitution T G 3_prime_UTR_variant PACA-AU 19 4046931 4046931 single base substitution T G downstream_gene_variant PACA-AU 19 4046976 4046976 insertion of <=200bp - TT 3_prime_UTR_variant PACA-AU 19 4046976 4046976 insertion of <=200bp - TT downstream_gene_variant PACA-AU 19 4047452 4047452 insertion of <=200bp - A 3_prime_UTR_variant PACA-AU 19 4047452 4047452 insertion of <=200bp - A downstream_gene_variant PACA-AU 19 4048133 4048133 single base substitution G A missense_variant R458C 1372C>T PACA-AU 19 4048339 4048339 single base substitution A C intron_variant PACA-AU 19 4050528 4050528 single base substitution C A intron_variant PACA-AU 19 4054880 4054880 single base substitution G A synonymous_variant P117P 351C>T PACA-AU 19 4056553 4056553 single base substitution G C intron_variant PACA-AU 19 4065349 4065349 single base substitution T C intron_variant PACA-AU 19 4066396 4066396 single base substitution G A intron_variant PACA-AU 19 4066396 4066396 single base substitution G A upstream_gene_variant PACA-AU 19 4068370 4068370 single base substitution G C upstream_gene_variant PACA-AU 19 4068793 4068793 single base substitution G T upstream_gene_variant PACA-AU 19 4068948 4068948 single base substitution G C upstream_gene_variant PACA-CA 19 4040696 4040696 single base substitution G C downstream_gene_variant PACA-CA 19 4041508 4041508 single base substitution G A downstream_gene_variant PACA-CA 19 4045640 4045640 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 19 4045640 4045640 deletion of <=200bp C - downstream_gene_variant PACA-CA 19 4047258 4047258 single base substitution G C 3_prime_UTR_variant PACA-CA 19 4047258 4047258 single base substitution G C downstream_gene_variant PACA-CA 19 4048139 4048139 single base substitution G A missense_variant H456Y 1366C>T PACA-CA 19 4048234 4048234 single base substitution T C missense_variant K424R 1271A>G PACA-CA 19 4048507 4048507 single base substitution G A intron_variant PACA-CA 19 4048724 4048724 single base substitution G A intron_variant PACA-CA 19 4049924 4049924 single base substitution T C intron_variant PACA-CA 19 4053673 4053678 deletion of <=200bp GTGTGC - intron_variant PACA-CA 19 4054857 4054857 single base substitution T C missense_variant D125G 374A>G PACA-CA 19 4055039 4055039 single base substitution C T synonymous_variant T64T 192G>A PACA-CA 19 4055624 4055624 single base substitution T C intron_variant PACA-CA 19 4056581 4056581 single base substitution A T intron_variant PACA-CA 19 4057473 4057473 single base substitution G T intron_variant PACA-CA 19 4060648 4060648 single base substitution C A intron_variant PACA-CA 19 4061502 4061502 insertion of <=200bp - G intron_variant PACA-CA 19 4068760 4068760 single base substitution C G upstream_gene_variant PACA-CA 19 4069475 4069475 single base substitution G A upstream_gene_variant PACA-CA 19 4069733 4069733 single base substitution G A upstream_gene_variant PACA-CA 19 4071339 4071339 single base substitution G A upstream_gene_variant PAEN-AU 19 4045902 4045902 single base substitution T G 3_prime_UTR_variant PAEN-AU 19 4045902 4045902 single base substitution T G downstream_gene_variant PAEN-IT 19 4053117 4053117 single base substitution T A intron_variant PAEN-IT 19 4071167 4071167 single base substitution C A upstream_gene_variant PBCA-DE 19 4039653 4039653 single base substitution C T downstream_gene_variant PBCA-DE 19 4045661 4045661 single base substitution G A 3_prime_UTR_variant PBCA-DE 19 4045661 4045661 single base substitution G A downstream_gene_variant PBCA-DE 19 4054792 4054792 single base substitution C A missense_variant D147Y 439G>T PBCA-DE 19 4059543 4059543 single base substitution G A intron_variant PBCA-DE 19 4062277 4062277 single base substitution C T intron_variant PBCA-DE 19 4066243 4066243 single base substitution T G intron_variant PBCA-DE 19 4066243 4066243 single base substitution T G upstream_gene_variant PRAD-CA 19 4044682 4044682 single base substitution C T 3_prime_UTR_variant PRAD-CA 19 4044682 4044682 single base substitution C T downstream_gene_variant PRAD-CA 19 4048282 4048282 single base substitution G A intron_variant PRAD-CA 19 4057006 4057006 single base substitution C T intron_variant PRAD-UK 19 4060509 4060509 single base substitution G A intron_variant PRAD-UK 19 4067513 4067513 single base substitution G T upstream_gene_variant PRAD-US 19 4054988 4054988 single base substitution G A synonymous_variant S81S 243C>T RECA-EU 19 4053569 4053569 single base substitution G A intron_variant SKCA-BR 19 4043704 4043704 single base substitution A C downstream_gene_variant SKCA-BR 19 4044396 4044396 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 4044396 4044396 single base substitution C T downstream_gene_variant SKCA-BR 19 4044537 4044537 single base substitution G A 3_prime_UTR_variant SKCA-BR 19 4044537 4044537 single base substitution G A downstream_gene_variant SKCA-BR 19 4052629 4052629 single base substitution A G intron_variant SKCA-BR 19 4052647 4052647 single base substitution A C intron_variant SKCA-BR 19 4056835 4056835 single base substitution T C intron_variant SKCA-BR 19 4056923 4056923 single base substitution G A intron_variant SKCA-BR 19 4057730 4057730 single base substitution T C intron_variant SKCA-BR 19 4059276 4059276 single base substitution T G intron_variant SKCA-BR 19 4060888 4060888 single base substitution G A intron_variant SKCA-BR 19 4060889 4060889 single base substitution G A intron_variant SKCA-BR 19 4061420 4061420 single base substitution A C intron_variant SKCA-BR 19 4061596 4061596 single base substitution G A intron_variant SKCA-BR 19 4061781 4061781 single base substitution C T intron_variant SKCA-BR 19 4063016 4063016 insertion of <=200bp - CCCACCCAAGGCTCACTT intron_variant SKCA-BR 19 4064528 4064528 single base substitution C T intron_variant SKCA-BR 19 4065349 4065349 single base substitution T C intron_variant SKCA-BR 19 4065572 4065572 single base substitution A C 5_prime_UTR_variant SKCA-BR 19 4065572 4065572 single base substitution A C intron_variant SKCA-BR 19 4065731 4065731 single base substitution G A intron_variant SKCA-BR 19 4065731 4065731 single base substitution G A upstream_gene_variant SKCA-BR 19 4065820 4065820 single base substitution A G intron_variant SKCA-BR 19 4065820 4065820 single base substitution A G upstream_gene_variant SKCA-BR 19 4067411 4067411 single base substitution C G upstream_gene_variant SKCA-BR 19 4068523 4068523 single base substitution G A upstream_gene_variant SKCA-BR 19 4069617 4069617 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 19 4070547 4070547 single base substitution C T upstream_gene_variant SKCA-BR 19 4070636 4070636 single base substitution A G upstream_gene_variant SKCA-BR 19 4071037 4071037 single base substitution A T upstream_gene_variant SKCA-BR 19 4071281 4071281 single base substitution G A upstream_gene_variant SKCM-US 19 4048123 4048123 single base substitution G A missense_variant T461M 1382C>T SKCM-US 19 4054105 4054107 deletion of <=200bp TCT - disruptive_inframe_deletion KI375I SKCM-US 19 4054599 4054607 deletion of <=200bp GCGGCCACG - disruptive_inframe_deletion AVAA208A SKCM-US 19 4054681 4054681 single base substitution G A missense_variant P184S 550C>T SKCM-US 19 4054881 4054881 single base substitution G A missense_variant P117L 350C>T SKCM-US 19 4054985 4054985 single base substitution G A synonymous_variant A82A 246C>T SKCM-US 19 4055191 4055191 single base substitution G A missense_variant P14S 40C>T STAD-US 19 4047779 4047779 single base substitution C T missense_variant D576N 1726G>A STAD-US 19 4048234 4048234 single base substitution T G missense_variant K424T 1271A>C STAD-US 19 4054897 4054897 single base substitution G A missense_variant R112C 334C>T THCA-SA 19 4054601 4054601 single base substitution G A synonymous_variant A210A 630C>T UCEC-US 19 4047884 4047884 single base substitution C T missense_variant E541K 1621G>A UCEC-US 19 4048101 4048101 single base substitution G A synonymous_variant C468C 1404C>T UCEC-US 19 4054697 4054697 single base substitution G A synonymous_variant A178A 534C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-C5-A1ML-01 COSM4837517 c.882G>T p.P294P Substitution - coding silent 19:4054351-4054351 - LUAD-D02326 COSM393109 c.1130G>T p.R377L Substitution - Missense 19:4054103-4054103 - B47-Tumor COSM3933045 c.1397A>C p.Y466S Substitution - Missense 19:4048110-4048110 - BN37 COSM1612256 c.64A>C p.S22R Substitution - Missense 19:4055169-4055169 - CSCC-29-T COSM4520949 c.1085G>A p.G362D Substitution - Missense 19:4054148-4054148 - B16-Tumor COSM3933044 c.1707T>G p.G569G Substitution - coding silent 19:4047800-4047800 - 2492700 COSM5715421 c.1537G>A p.G513R Substitution - Missense 19:4047970-4047970 - T2417 COSM4742208 c.1354G>A p.D452N Substitution - Missense 19:4048153-4048153 - OSCC-GB_01090111 COSM4886418 c.1342G>A p.A448T Substitution - Missense 19:4048165-4048165 - 1517_CLM COSM5755371 c.331G>A p.A111T Substitution - Missense 19:4054902-4054902 - 8067235 COSM3771072 c.1372C>T p.R458C Substitution - Missense 19:4048135-4048135 - BD6T COSM5499341 c.1333G>A p.A445T Substitution - Missense 19:4048174-4048174 - T636 COSM4742209 c.1195C>T p.R399* Substitution - Nonsense 19:4054038-4054038 - ESCC_29 COSM5627494 c.671C>T p.P224L Substitution - Missense 19:4054562-4054562 - 8057475 COSM3771071 c.1750G>A p.A584T Substitution - Missense 19:4047757-4047757 - 19 COSM5747963 c.697delG p.D233fs*91 Deletion - Frameshift 19:4054536-4054536 - T3021 COSM4742212 c.55G>C p.D19H Substitution - Missense 19:4055178-4055178 - CSCC-49-T COSM4468257 c.1534C>T p.P512S Substitution - Missense 19:4047973-4047973 - TCGA-FD-A3N5-01 COSM1304572 c.1685G>A p.G562D Substitution - Missense 19:4047822-4047822 - ESO-931 COSM1270735 c.1683C>T p.A561A Substitution - coding silent 19:4047824-4047824 - CSCC-18-T COSM4567000 c.533_534CC>TT p.A178V Substitution - Missense 19:4054699-4054700 - SE2 COSM1165725 c.1196G>T p.R399L Substitution - Missense 19:4054037-4054037 - ESCC_BICR_051T COSM5444026 c.768C>G p.L256L Substitution - coding silent 19:4054465-4054465 - RK027_C01 COSM296144 c.1217G>T p.G406V Substitution - Missense 19:4054016-4054016 - ESO-555 COSM1270734 c.1225C>T p.P409S Substitution - Missense 19:4054008-4054008 - HCC58T COSM3707149 c.851C>T p.S284L Substitution - Missense 19:4054382-4054382 - T3094 COSM4742210 c.540T>C p.A180A Substitution - coding silent 19:4054693-4054693 - pfg144T COSM4748979 c.235T>G p.F79V Substitution - Missense 19:4054998-4054998 - CSCC-56-T COSM4492565 c.39C>T p.F13F Substitution - coding silent 19:4055194-4055194 - 61 COSM5741355 c.1327T>C p.C443R Substitution - Missense 19:4048180-4048180 - M028 COSM1740892 c.1097_1107del11 p.A367fs*169 Deletion - Frameshift 19:4054126-4054136 - BN37T COSM1612256 c.64A>C p.S22R Substitution - Missense 19:4055169-4055169 - CSCC-49-T COSM4528088 c.150G>A p.S50S Substitution - coding silent 19:4055083-4055083 - TCGA-AA-3877-01 COSM296540 c.1564G>A p.A522T Substitution - Missense 19:4047943-4047943 - TCGA-FS-A1ZB-06 COSM3533985 c.246C>T p.A82A Substitution - coding silent 19:4054987-4054987 - HCC068T COSM5824248 c.532G>A p.A178T Substitution - Missense 19:4054701-4054701 - tumor_4177856 COSM3357131 c.188T>C p.F63S Substitution - Missense 19:4055045-4055045 - HCC113T COSM1612250 c.1171A>C p.I391L Substitution - Missense 19:4054062-4054062 - S01453 COSM5668504 c.740G>T p.R247L Substitution - Missense 19:4054493-4054493 - HCT8 COSM4634416 c.1429C>T p.R477C Substitution - Missense 19:4048078-4048078 - TCGA-AA-3713-01 COSM3692758 c.1271A>C p.K424T Substitution - Missense 19:4048236-4048236 - sysucc-1163T COSM5458743 c.1280T>C p.V427A Substitution - Missense 19:4048227-4048227 - sysucc-936T COSM5453610 c.1020G>A p.E340E Substitution - coding silent 19:4054213-4054213 - 61 COSM5741356 c.1106C>T p.S369L Substitution - Missense 19:4054127-4054127 - YUPAER COSM5389773 c.1143C>T p.F381F Substitution - coding silent 19:4054090-4054090 - HCT8 COSM4634417 c.1213A>G p.T405A Substitution - Missense 19:4054020-4054020 - ESO-1145 COSM1270732 c.475_486del12 p.E159_E162delEYLE Deletion - In frame 19:4054747-4054758 - CSCC-62-T COSM4463873 c.1309C>T p.P437S Substitution - Missense 19:4048198-4048198 - 384 COSM4426771 c.552G>A p.P184P Substitution - coding silent 19:4054681-4054681 - TCGA-D3-A1Q4-06 COSM3533961 c.1382C>T p.T461M Substitution - Missense 19:4048125-4048125 - pfg069T COSM4748980 c.82C>T p.R28W Substitution - Missense 19:4055151-4055151 - TCGA-AA-3492-01 COSM1392762 c.417C>T p.D139D Substitution - coding silent 19:4054816-4054816 - 53M COSM5595582 c.273C>T p.F91F Substitution - coding silent 19:4054960-4054960 - TCGA-AA-3866-01 COSM296144 c.1217G>T p.G406V Substitution - Missense 19:4054016-4054016 - TCGA-22-5474-01 COSM711421 c.977C>T p.S326L Substitution - Missense 19:4054256-4054256 - SW48 COSM3225110 c.97C>T p.L33L Substitution - coding silent 19:4055136-4055136 - TCGA-D7-A4YU-01 COSM4078099 c.1726G>A p.D576N Substitution - Missense 19:4047781-4047781 - TCGA-BR-4371-01 COSM3692758 c.1271A>C p.K424T Substitution - Missense 19:4048236-4048236 - 587234 COSM1233170 c.1387C>A p.L463M Substitution - Missense 19:4048120-4048120 - CSCC-49-T COSM4530394 c.1696G>A p.D566N Substitution - Missense 19:4047811-4047811 - 2492721 COSM5730225 c.614_634del21 p.A205_A211delAVAAVAA Deletion - In frame 19:4054599-4054619 - TCGA-66-2786-01 COSM711432 c.1208C>A p.T403N Substitution - Missense 19:4054025-4054025 - ESO-185 COSM1270733 c.1288C>T p.R430W Substitution - Missense 19:4048219-4048219 - TCGA-BR-8372-01 COSM3692758 c.1271A>C p.K424T Substitution - Missense 19:4048236-4048236 - 2492720 COSM5730225 c.614_634del21 p.A205_A211delAVAAVAA Deletion - In frame 19:4054599-4054619 - 1517_PT COSM5755371 c.331G>A p.A111T Substitution - Missense 19:4054902-4054902 - 587382 COSM1233171 c.1160G>T p.C387F Substitution - Missense 19:4054073-4054073 - sysucc-771T COSM5446731 c.87G>T p.T29T Substitution - coding silent 19:4055146-4055146 - PTC_279 COSM5959589 c.630C>T p.A210A Substitution - coding silent 19:4054603-4054603 - TCGA-CM-4744-01 COSM3692763 c.28G>A p.G10R Substitution - Missense 19:4055205-4055205 - T2940 COSM3225106 c.191C>T p.T64M Substitution - Missense 19:4055042-4055042 - TCGA-BS-A0UV-01 COSM996502 c.1621G>A p.E541K Substitution - Missense 19:4047886-4047886 - CSCC-29-T COSM4469041 c.1578C>T p.S526S Substitution - coding silent 19:4047929-4047929 - 8016470 COSM3389007 c.351C>T p.P117P Substitution - coding silent 19:4054882-4054882 - cSCCP1 COSM135802 c.1396T>G p.Y466D Substitution - Missense 19:4048111-4048111 - 2492703 COSM5715421 c.1537G>A p.G513R Substitution - Missense 19:4047970-4047970 - Pa03C COSM84471 c.343G>T p.E115* Substitution - Nonsense 19:4054890-4054890 - HCC87T COSM1612255 c.146G>A p.R49H Substitution - Missense 19:4055087-4055087 - TCGA-AO-A128-01 COSM3823102 c.78G>A p.E26E Substitution - coding silent 19:4055155-4055155 - TCGA-AP-A0LM-01 COSM996505 c.1404C>T p.C468C Substitution - coding silent 19:4048103-4048103 - HCC123T COSM1612249 c.1242C>T p.I414I Substitution - coding silent 19:4053991-4053991 - 2492723 COSM5730225 c.614_634del21 p.A205_A211delAVAAVAA Deletion - In frame 19:4054599-4054619 - TCGA-AC-A23H-01 COSM3823101 c.357G>A p.V119V Substitution - coding silent 19:4054876-4054876 - TCGA-EE-A2M5-06 COSM3533986 c.40C>T p.P14S Substitution - Missense 19:4055193-4055193 - TCGA-BS-A0U8-01 COSM996500 c.1725C>A p.T575T Substitution - coding silent 19:4047782-4047782 - EGC15 COSM3692758 c.1271A>C p.K424T Substitution - Missense 19:4048236-4048236 - 2492722 COSM5730225 c.614_634del21 p.A205_A211delAVAAVAA Deletion - In frame 19:4054599-4054619 - TCGA-AA-3663-01 COSM3692762 c.372C>T p.A124A Substitution - coding silent 19:4054861-4054861 - TCGA-EE-A2GC-06 COSM3533984 c.550C>T p.P184S Substitution - Missense 19:4054683-4054683 - CSCC-54-T COSM4529612 c.1627G>A p.E543K Substitution - Missense 19:4047880-4047880 - 587294 COSM1233169 c.1235G>A p.C412Y Substitution - Missense 19:4053998-4053998 - TCGA-KK-A6E0-01 COSM4876836 c.243C>T p.S81S Substitution - coding silent 19:4054990-4054990 - HCC123 COSM1612249 c.1242C>T p.I414I Substitution - coding silent 19:4053991-4053991 - 93T COSM110562 c.1737C>T p.F579F Substitution - coding silent 19:4047770-4047770 - J52_T COSM3960064 c.421G>T p.G141W Substitution - Missense 19:4054812-4054812 - TCGA-GC-A3YS-01 COSM3797085 c.1275G>A p.L425L Substitution - coding silent 19:4048232-4048232 - TCGA-C5-A7UE-01 COSM4856554 c.312G>T p.V104V Substitution - coding silent 19:4054921-4054921 - HCC58 COSM3707149 c.851C>T p.S284L Substitution - Missense 19:4054382-4054382 - KM12 COSM4612776 c.522_523insC p.A175fs*19 Insertion - Frameshift 19:4054710-4054711 - 2492702 COSM5715421 c.1537G>A p.G513R Substitution - Missense 19:4047970-4047970 - PCSI_0465_Pa_P_526 COSM4964552 c.1271A>G p.K424R Substitution - Missense 19:4048236-4048236 - TCGA-GC-A3YS-01 COSM3797087 c.1157T>A p.I386N Substitution - Missense 19:4054076-4054076 - TARGET-30-PALRSD COSM1289011 c.1482C>T p.P494P Substitution - coding silent 19:4048025-4048025 - WA23 COSM242301 c.179A>G p.K60R Substitution - Missense 19:4055054-4055054 - TCGA-RP-A695-06 COSM4896552 c.350C>T p.P117L Substitution - Missense 19:4054883-4054883 - TCGA-HU-A4GQ-01 COSM4078134 c.334C>T p.R112C Substitution - Missense 19:4054899-4054899 - 2492701 COSM5715421 c.1537G>A p.G513R Substitution - Missense 19:4047970-4047970 - HCC87 COSM1612255 c.146G>A p.R49H Substitution - Missense 19:4055087-4055087 - BD150T COSM5500970 c.399G>A p.A133A Substitution - coding silent 19:4054834-4054834 - GC_296T1-GC_296N COSM3692758 c.1271A>C p.K424T Substitution - Missense 19:4048236-4048236 - Au3 COSM4078099 c.1726G>A p.D576N Substitution - Missense 19:4047781-4047781 - Au4 COSM5605378 c.466C>T p.R156C Substitution - Missense 19:4054767-4054767 - PCSI_0509_Pa_P_526 COSM4962039 c.374A>G p.D125G Substitution - Missense 19:4054859-4054859 - 19 COSM5747964 c.664C>T p.P222S Substitution - Missense 19:4054569-4054569 - TCGA-D1-A17D-01 COSM996567 c.534C>T p.A178A Substitution - coding silent 19:4054699-4054699 - T3024 COSM4742211 c.87G>A p.T29T Substitution - coding silent 19:4055146-4055146 - TCGA-BT-A20J-01 COSM418256 c.1455C>T p.L485L Substitution - coding silent 19:4048052-4048052 - QC2-34-T2 COSM5654995 c.1646G>T p.S549I Substitution - Missense 19:4047861-4047861 - J76_T COSM3960063 c.637G>C p.D213H Substitution - Missense 19:4054596-4054596 - 66 COSM5743931 c.1373G>A p.R458H Substitution - Missense 19:4048134-4048134 - ASHPC_0001_Pa_P_2 COSM3787667 c.1366C>T p.H456Y Substitution - Missense 19:4048141-4048141 - TCGA-CJ-4918-01 COSM474730 c.1272G>T p.K424N Substitution - Missense 19:4048235-4048235 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591384 19p13.3 605878

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F63S c.188T>C 19 4055043 DLBCL C A Missense p.G406V c.1217G>T 19 4054014 COREAD C A Missense p.G406V c.1217G>T 19 4054014 HC C A Missense p.K424N c.1272G>T 19 4048233 RCCC CTCGAGGTACTC - InFrameDeletion p.E159_E162delEYLE c.475_486delGAGTACCTCGAG 19 4054745 ESCA C T Missense p.G562D c.1685G>A 19 4047820 BLCA G A 3-UTRSNV . c.1752+2092C>T 19 4045661 MB G A Missense p.A507V c.1520C>T 19 4047985 STAD G A Missense p.P14S c.40C>T 19 4055191 CM G A Missense p.P184S c.550C>T 19 4054681 CM G A Missense p.P409S c.1225C>T 19 4054006 ESCA G A Missense p.R430W c.1288C>T 19 4048217 ESCA G A Missense p.S326L c.977C>T 19 4054254 LUSC G A Missense p.T461M c.1382C>T 19 4048123 CM G A Synonymous p.A178A c.534C>T 19 4054697 UCEC G A Synonymous p.A561A c.1683C>T 19 4047822 ESCA G A Synonymous p.A82A c.246C>T 19 4054985 CM G A Synonymous p.I9I c.27C>T 19 4055204 CM G A Synonymous p.L485L c.1455C>T 19 4048050 BLCA G A Synonymous p.P494P c.1482C>T 19 4048023 NB G A Synonymous p.S81S c.243C>T 19 4054988 PRAD GCGGCCACG - InFrameDeletion p.V209_A211delVAA c.624_632delCGTGGCCGC 19 4054599 CM G C Missense p.D78E c.234C>G 19 4054997 HNSC G T Missense p.T403N c.1208C>A 19 4054023 LUSC - T 3-UTRInsertion . c.1752+1412dupA 19 4046341 HC T G Missense p.K424T c.1271A>C 19 4048234 STAD