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 541369 541369 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr19:541369G>A c.528G>A c.(526-528)gcG>gcA p.A176A BLCA 19 541370 541370 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr19:541370G>A c.529G>A c.(529-531)Gag>Aag p.E177K BRCA 19 532054 532054 + Nonsense_Mutation SNP G G A TCGA-B6-A402-01A-11D-A23C-09 TCGA-B6-A402-10A-01D-A23C-09 g.chr19:532054G>A c.123G>A c.(121-123)tgG>tgA p.W41* COAD 19 535838 535838 + Splice_Site SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:535838C>T c.179C>T c.(178-180)gCg>gTg p.A60V COAD 19 535881 535881 + Silent SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr19:535881C>A c.222C>A c.(220-222)gcC>gcA p.A74A COAD 19 536277 536277 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:536277C>A c.299C>A c.(298-300)cCg>cAg p.P100Q COADREAD 19 535838 535838 + Splice_Site SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr19:535838C>T c.179C>T c.(178-180)gCg>gTg p.A60V COADREAD 19 535881 535881 + Silent SNP C C A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr19:535881C>A c.222C>A c.(220-222)gcC>gcA p.A74A COADREAD 19 536277 536277 + Missense_Mutation SNP C C A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:536277C>A c.299C>A c.(298-300)cCg>cAg p.P100Q GBMLGG 19 535886 535886 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 g.chr19:535886G>A c.227G>A c.(226-228)cGg>cAg p.R76Q GBMLGG 19 537058 537060 + In_Frame_Del DEL CTT CTT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 g.chr19:537058_537060delCTT c.408_410delCTT c.(406-411)accttc>acc p.F137del HNSC 19 532007 532007 + Missense_Mutation SNP G G A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr19:532007G>A c.76G>A c.(76-78)Gag>Aag p.E26K HNSC 19 536323 536323 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:536323C>A c.345C>A c.(343-345)aaC>aaA p.N115K HNSC 19 536324 536324 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:536324C>T c.346C>T c.(346-348)Ccc>Tcc p.P116S HNSC 19 536325 536325 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr19:536325C>T c.347C>T c.(346-348)cCc>cTc p.P116L HNSC 19 541375 541375 + Silent SNP T T C TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr19:541375T>C c.534T>C c.(532-534)cgT>cgC p.R178R LGG 19 535886 535886 + Missense_Mutation SNP G G A TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 g.chr19:535886G>A c.227G>A c.(226-228)cGg>cAg p.R76Q LGG 19 537058 537060 + In_Frame_Del DEL CTT CTT - TCGA-E1-5305-01A-01D-1893-08 TCGA-E1-5305-10A-01D-1893-08 g.chr19:537058_537060delCTT c.408_410delCTT c.(406-411)accttc>acc p.F137del LIHC 19 541500 541500 + Missense_Mutation SNP C C T TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr19:541500C>T c.659C>T c.(658-660)gCc>gTc p.A220V LUAD 19 537015 537015 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr19:537015C>T c.365C>T c.(364-366)aCc>aTc p.T122I LUAD 19 537086 537086 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr19:537086G>T c.436G>T c.(436-438)Gtg>Ttg p.V146L PAAD 19 535886 535886 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:535886G>A c.227G>A c.(226-228)cGg>cAg p.R76Q PAAD 19 541501 541501 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:541501C>T c.660C>T c.(658-660)gcC>gcT p.A220A PRAD 19 537014 537014 + Splice_Site SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr19:537014A>G c.364A>G c.(364-366)Acc>Gcc p.T122A SKCM 19 532077 532077 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:532077C>T c.146C>T c.(145-147)cCc>cTc p.P49L SKCM 19 532078 532078 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr19:532078C>T c.147C>T c.(145-147)ccC>ccT p.P49P SKCM 19 535852 535852 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:535852C>T c.193C>T c.(193-195)Ccc>Tcc p.P65S SKCM 19 535858 535858 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr19:535858G>T c.199G>T c.(199-201)Gac>Tac p.D67Y SKCM 19 535879 535879 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr19:535879G>A c.220G>A c.(220-222)Gcc>Acc p.A74T SKCM 19 535890 535890 + Silent SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr19:535890C>T c.231C>T c.(229-231)ttC>ttT p.F77F SKCM 19 536311 536311 + Silent SNP A A G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr19:536311A>G c.333A>G c.(331-333)tcA>tcG p.S111S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 19 541369 541369 single base substitution G A 3_prime_UTR_variant BLCA-US 19 541369 541369 single base substitution G A downstream_gene_variant BLCA-US 19 541369 541369 single base substitution G A missense_variant R115Q 344G>A BLCA-US 19 541369 541369 single base substitution G A missense_variant R132Q 395G>A BLCA-US 19 541369 541369 single base substitution G A synonymous_variant A176A 528G>A BLCA-US 19 541369 541369 single base substitution G A synonymous_variant A44A 132G>A BLCA-US 19 541369 541369 single base substitution G A synonymous_variant A76A 228G>A BRCA-EU 19 528089 528089 single base substitution A T upstream_gene_variant BRCA-EU 19 532380 532380 single base substitution G A intron_variant BRCA-EU 19 532380 532380 single base substitution G A upstream_gene_variant BRCA-EU 19 539343 539343 single base substitution C T downstream_gene_variant BRCA-EU 19 539343 539343 single base substitution C T intron_variant BRCA-EU 19 539343 539343 single base substitution C T upstream_gene_variant BRCA-EU 19 541852 541852 single base substitution C A 3_prime_UTR_variant BRCA-EU 19 541852 541852 single base substitution C A downstream_gene_variant BRCA-EU 19 543629 543629 single base substitution G A downstream_gene_variant BRCA-EU 19 543752 543752 single base substitution G C downstream_gene_variant BRCA-EU 19 544129 544129 single base substitution G A downstream_gene_variant BRCA-EU 19 546308 546308 single base substitution G C downstream_gene_variant BRCA-EU 19 546933 546933 single base substitution C T downstream_gene_variant BRCA-EU 19 546944 546944 single base substitution G A downstream_gene_variant BRCA-FR 19 531121 531121 single base substitution C A upstream_gene_variant BRCA-FR 19 544129 544129 single base substitution G A downstream_gene_variant BRCA-UK 19 539974 539974 single base substitution G C downstream_gene_variant BRCA-UK 19 539974 539974 single base substitution G C intron_variant BRCA-UK 19 539974 539974 single base substitution G C upstream_gene_variant BRCA-UK 19 540009 540009 single base substitution C T downstream_gene_variant BRCA-UK 19 540009 540009 single base substitution C T intron_variant BRCA-UK 19 540009 540009 single base substitution C T upstream_gene_variant BRCA-US 19 532054 532054 single base substitution G A exon_variant BRCA-US 19 532054 532054 single base substitution G A stop_gained W41* 123G>A BRCA-US 19 532054 532054 single base substitution G A upstream_gene_variant BTCA-JP 19 532156 532156 single base substitution C G intron_variant BTCA-JP 19 532156 532156 single base substitution C G upstream_gene_variant BTCA-JP 19 536068 536068 single base substitution G A intron_variant BTCA-JP 19 536068 536068 single base substitution G A upstream_gene_variant BTCA-JP 19 536078 536078 deletion of <=200bp T - intron_variant BTCA-JP 19 536078 536078 deletion of <=200bp T - upstream_gene_variant BTCA-JP 19 536107 536107 single base substitution T C intron_variant BTCA-JP 19 536107 536107 single base substitution T C upstream_gene_variant BTCA-JP 19 536108 536108 single base substitution G A intron_variant BTCA-JP 19 536108 536108 single base substitution G A upstream_gene_variant BTCA-JP 19 536128 536128 single base substitution C T intron_variant BTCA-JP 19 536128 536128 single base substitution C T upstream_gene_variant BTCA-JP 19 536130 536130 single base substitution G A intron_variant BTCA-JP 19 536130 536130 single base substitution G A upstream_gene_variant CLLE-ES 19 536078 536078 deletion of <=200bp T - intron_variant CLLE-ES 19 536078 536078 deletion of <=200bp T - upstream_gene_variant CLLE-ES 19 536181 536181 single base substitution C T intron_variant CLLE-ES 19 536181 536181 single base substitution C T upstream_gene_variant CLLE-ES 19 536688 536688 single base substitution C T exon_variant CLLE-ES 19 536688 536688 single base substitution C T intron_variant CLLE-ES 19 536688 536688 single base substitution C T upstream_gene_variant CLLE-ES 19 543142 543142 single base substitution G A downstream_gene_variant COAD-US 19 535838 535838 single base substitution C T missense_variant A17V 50C>T COAD-US 19 535838 535838 single base substitution C T missense_variant A1V 2C>T COAD-US 19 535838 535838 single base substitution C T missense_variant A60V 179C>T COAD-US 19 535838 535838 single base substitution C T splice_region_variant COAD-US 19 535838 535838 single base substitution C T upstream_gene_variant COCA-CN 19 536002 536002 single base substitution C T intron_variant COCA-CN 19 536002 536002 single base substitution C T upstream_gene_variant COCA-CN 19 536068 536068 single base substitution G A intron_variant COCA-CN 19 536068 536068 single base substitution G A upstream_gene_variant COCA-CN 19 536086 536086 single base substitution C T intron_variant COCA-CN 19 536086 536086 single base substitution C T upstream_gene_variant COCA-CN 19 536088 536088 single base substitution C T intron_variant COCA-CN 19 536088 536088 single base substitution C T upstream_gene_variant COCA-CN 19 536090 536090 single base substitution A G intron_variant COCA-CN 19 536090 536090 single base substitution A G upstream_gene_variant COCA-CN 19 536108 536108 single base substitution G A intron_variant COCA-CN 19 536108 536108 single base substitution G A upstream_gene_variant COCA-CN 19 541613 541613 single base substitution C T 3_prime_UTR_variant COCA-CN 19 541613 541613 single base substitution C T downstream_gene_variant COCA-CN 19 541613 541613 single base substitution C T intron_variant COCA-CN 19 544140 544140 single base substitution G A downstream_gene_variant EOPC-DE 19 542710 542710 single base substitution T C downstream_gene_variant ESAD-UK 19 528118 528118 single base substitution C T upstream_gene_variant ESAD-UK 19 529882 529882 single base substitution A G upstream_gene_variant ESAD-UK 19 532203 532203 single base substitution T A intron_variant ESAD-UK 19 532203 532203 single base substitution T A upstream_gene_variant ESAD-UK 19 533184 533184 single base substitution G A intron_variant ESAD-UK 19 533184 533184 single base substitution G A upstream_gene_variant ESAD-UK 19 533966 533966 single base substitution G A intron_variant ESAD-UK 19 533966 533966 single base substitution G A upstream_gene_variant ESAD-UK 19 536277 536277 single base substitution C T exon_variant ESAD-UK 19 536277 536277 single base substitution C T missense_variant P100L 299C>T ESAD-UK 19 536277 536277 single base substitution C T missense_variant P41L 122C>T ESAD-UK 19 536277 536277 single base substitution C T missense_variant P57L 170C>T ESAD-UK 19 536277 536277 single base substitution C T upstream_gene_variant ESAD-UK 19 538317 538317 single base substitution T G downstream_gene_variant ESAD-UK 19 538317 538317 single base substitution T G intron_variant ESAD-UK 19 538317 538317 single base substitution T G upstream_gene_variant ESAD-UK 19 538672 538672 single base substitution C A downstream_gene_variant ESAD-UK 19 538672 538672 single base substitution C A intron_variant ESAD-UK 19 538672 538672 single base substitution C A splice_region_variant ESAD-UK 19 538672 538672 single base substitution C A upstream_gene_variant ESAD-UK 19 539167 539167 single base substitution C T downstream_gene_variant ESAD-UK 19 539167 539167 single base substitution C T intron_variant ESAD-UK 19 539167 539167 single base substitution C T upstream_gene_variant ESAD-UK 19 541519 541519 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 541519 541519 single base substitution C T downstream_gene_variant ESAD-UK 19 541519 541519 single base substitution C T intron_variant ESAD-UK 19 541519 541519 single base substitution C T synonymous_variant D126D 378C>T ESAD-UK 19 541519 541519 single base substitution C T synonymous_variant D226D 678C>T ESAD-UK 19 541519 541519 single base substitution C T synonymous_variant D94D 282C>T ESAD-UK 19 543073 543073 single base substitution G A downstream_gene_variant ESAD-UK 19 544961 544963 deletion of <=200bp ACC - downstream_gene_variant ESAD-UK 19 546356 546356 single base substitution C T downstream_gene_variant ESCA-CN 19 536107 536107 single base substitution T C intron_variant ESCA-CN 19 536107 536107 single base substitution T C upstream_gene_variant ESCA-CN 19 541367 541367 single base substitution G A 3_prime_UTR_variant ESCA-CN 19 541367 541367 single base substitution G A downstream_gene_variant ESCA-CN 19 541367 541367 single base substitution G A missense_variant A176T 526G>A ESCA-CN 19 541367 541367 single base substitution G A missense_variant A44T 130G>A ESCA-CN 19 541367 541367 single base substitution G A missense_variant A76T 226G>A ESCA-CN 19 541367 541367 single base substitution G A synonymous_variant T114T 342G>A ESCA-CN 19 541367 541367 single base substitution G A synonymous_variant T131T 393G>A LAML-KR 19 527458 527458 single base substitution C G upstream_gene_variant LAML-KR 19 534689 534689 single base substitution T G intron_variant LAML-KR 19 534689 534689 single base substitution T G upstream_gene_variant LAML-KR 19 536068 536068 single base substitution G A intron_variant LAML-KR 19 536068 536068 single base substitution G A upstream_gene_variant LAML-KR 19 536086 536086 single base substitution C T intron_variant LAML-KR 19 536086 536086 single base substitution C T upstream_gene_variant LAML-KR 19 536088 536088 single base substitution C T intron_variant LAML-KR 19 536088 536088 single base substitution C T upstream_gene_variant LAML-KR 19 536878 536878 single base substitution G A downstream_gene_variant LAML-KR 19 536878 536878 single base substitution G A intron_variant LAML-KR 19 536878 536878 single base substitution G A upstream_gene_variant LAML-KR 19 537383 537383 single base substitution C G downstream_gene_variant LAML-KR 19 537383 537383 single base substitution C G intron_variant LAML-KR 19 537383 537383 single base substitution C G upstream_gene_variant LAML-KR 19 537387 537387 single base substitution C T downstream_gene_variant LAML-KR 19 537387 537387 single base substitution C T intron_variant LAML-KR 19 537387 537387 single base substitution C T upstream_gene_variant LAML-KR 19 538083 538083 single base substitution C T downstream_gene_variant LAML-KR 19 538083 538083 single base substitution C T intron_variant LAML-KR 19 538083 538083 single base substitution C T upstream_gene_variant LAML-KR 19 540033 540033 single base substitution G A downstream_gene_variant LAML-KR 19 540033 540033 single base substitution G A intron_variant LAML-KR 19 540033 540033 single base substitution G A upstream_gene_variant LAML-KR 19 544950 544950 single base substitution C T downstream_gene_variant LGG-US 19 537058 537060 deletion of <=200bp CTT - downstream_gene_variant LGG-US 19 537058 537060 deletion of <=200bp CTT - exon_variant LGG-US 19 537058 537060 deletion of <=200bp CTT - inframe_deletion TF136T LGG-US 19 537058 537060 deletion of <=200bp CTT - inframe_deletion TF16T LGG-US 19 537058 537060 deletion of <=200bp CTT - inframe_deletion TF36T LGG-US 19 537058 537060 deletion of <=200bp CTT - inframe_deletion TF77T LGG-US 19 537058 537060 deletion of <=200bp CTT - inframe_deletion TF93T LGG-US 19 537058 537060 deletion of <=200bp CTT - intron_variant LGG-US 19 537058 537060 deletion of <=200bp CTT - upstream_gene_variant LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - 3_prime_UTR_variant LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - disruptive_inframe_deletion EES102D LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - disruptive_inframe_deletion EES134D LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - disruptive_inframe_deletion EES234D LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - downstream_gene_variant LICA-FR 19 541543 541548 deletion of <=200bp GGAGTC - intron_variant LICA-FR 19 541549 541549 single base substitution C A 3_prime_UTR_variant LICA-FR 19 541549 541549 single base substitution C A downstream_gene_variant LICA-FR 19 541549 541549 single base substitution C A intron_variant LICA-FR 19 541549 541549 single base substitution C A synonymous_variant S104S 312C>A LICA-FR 19 541549 541549 single base substitution C A synonymous_variant S136S 408C>A LICA-FR 19 541549 541549 single base substitution C A synonymous_variant S236S 708C>A LICA-FR 19 545508 545508 single base substitution G T downstream_gene_variant LICA-FR 19 545509 545509 single base substitution G T downstream_gene_variant LINC-JP 19 534604 534604 single base substitution C T intron_variant LINC-JP 19 534604 534604 single base substitution C T upstream_gene_variant LINC-JP 19 536128 536128 single base substitution C T intron_variant LINC-JP 19 536128 536128 single base substitution C T upstream_gene_variant LINC-JP 19 536130 536130 single base substitution G A intron_variant LINC-JP 19 536130 536130 single base substitution G A upstream_gene_variant LINC-JP 19 538863 538863 single base substitution G T downstream_gene_variant LINC-JP 19 538863 538863 single base substitution G T intron_variant LINC-JP 19 538863 538863 single base substitution G T upstream_gene_variant LINC-JP 19 540805 540805 insertion of <=200bp - A downstream_gene_variant LINC-JP 19 540805 540805 insertion of <=200bp - A intron_variant LINC-JP 19 540805 540805 insertion of <=200bp - A upstream_gene_variant LIRI-JP 19 546085 546085 single base substitution C T downstream_gene_variant LUSC-KR 19 532168 532168 single base substitution A C intron_variant LUSC-KR 19 532168 532168 single base substitution A C upstream_gene_variant LUSC-KR 19 539204 539204 single base substitution G A downstream_gene_variant LUSC-KR 19 539204 539204 single base substitution G A intron_variant LUSC-KR 19 539204 539204 single base substitution G A upstream_gene_variant LUSC-KR 19 541501 541501 single base substitution C T 3_prime_UTR_variant LUSC-KR 19 541501 541501 single base substitution C T downstream_gene_variant LUSC-KR 19 541501 541501 single base substitution C T intron_variant LUSC-KR 19 541501 541501 single base substitution C T synonymous_variant A120A 360C>T LUSC-KR 19 541501 541501 single base substitution C T synonymous_variant A220A 660C>T LUSC-KR 19 541501 541501 single base substitution C T synonymous_variant A88A 264C>T LUSC-KR 19 544950 544950 single base substitution C T downstream_gene_variant MALY-DE 19 529837 529837 single base substitution C A upstream_gene_variant MALY-DE 19 532324 532324 single base substitution C T intron_variant MALY-DE 19 532324 532324 single base substitution C T upstream_gene_variant MALY-DE 19 533808 533808 single base substitution C T intron_variant MALY-DE 19 533808 533808 single base substitution C T upstream_gene_variant MALY-DE 19 534504 534504 deletion of <=200bp T - intron_variant MALY-DE 19 534504 534504 deletion of <=200bp T - upstream_gene_variant MELA-AU 19 527305 527305 single base substitution C T upstream_gene_variant MELA-AU 19 527806 527806 single base substitution A G upstream_gene_variant MELA-AU 19 527808 527808 single base substitution G A upstream_gene_variant MELA-AU 19 528078 528078 single base substitution C T upstream_gene_variant MELA-AU 19 528128 528128 single base substitution G A upstream_gene_variant MELA-AU 19 528880 528881 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 529091 529091 single base substitution G A upstream_gene_variant MELA-AU 19 529763 529764 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 529930 529930 single base substitution G A upstream_gene_variant MELA-AU 19 530344 530344 single base substitution G A upstream_gene_variant MELA-AU 19 530383 530383 single base substitution A G upstream_gene_variant MELA-AU 19 530681 530681 single base substitution G A upstream_gene_variant MELA-AU 19 530759 530759 single base substitution G A upstream_gene_variant MELA-AU 19 531648 531648 single base substitution G A upstream_gene_variant MELA-AU 19 532383 532383 single base substitution C T intron_variant MELA-AU 19 532383 532383 single base substitution C T upstream_gene_variant MELA-AU 19 534061 534062 deletion of <=200bp AG - intron_variant MELA-AU 19 534061 534062 deletion of <=200bp AG - upstream_gene_variant MELA-AU 19 534294 534294 single base substitution G A intron_variant MELA-AU 19 534294 534294 single base substitution G A upstream_gene_variant MELA-AU 19 534347 534347 single base substitution C T intron_variant MELA-AU 19 534347 534347 single base substitution C T upstream_gene_variant MELA-AU 19 534372 534372 single base substitution C T intron_variant MELA-AU 19 534372 534372 single base substitution C T upstream_gene_variant MELA-AU 19 534515 534515 single base substitution C T intron_variant MELA-AU 19 534515 534515 single base substitution C T upstream_gene_variant MELA-AU 19 534997 534997 single base substitution G A intron_variant MELA-AU 19 534997 534997 single base substitution G A upstream_gene_variant MELA-AU 19 535085 535085 single base substitution G C intron_variant MELA-AU 19 535085 535085 single base substitution G C upstream_gene_variant MELA-AU 19 535149 535149 single base substitution C T intron_variant MELA-AU 19 535149 535149 single base substitution C T upstream_gene_variant MELA-AU 19 535407 535407 single base substitution C T intron_variant MELA-AU 19 535407 535407 single base substitution C T upstream_gene_variant MELA-AU 19 535598 535598 single base substitution C T intron_variant MELA-AU 19 535598 535598 single base substitution C T upstream_gene_variant MELA-AU 19 535680 535680 single base substitution C T intron_variant MELA-AU 19 535680 535680 single base substitution C T upstream_gene_variant MELA-AU 19 535829 535829 single base substitution C T splice_region_variant MELA-AU 19 535829 535829 single base substitution C T upstream_gene_variant MELA-AU 19 535852 535852 single base substitution C T exon_variant MELA-AU 19 535852 535852 single base substitution C T missense_variant P22S 64C>T MELA-AU 19 535852 535852 single base substitution C T missense_variant P65S 193C>T MELA-AU 19 535852 535852 single base substitution C T missense_variant P6S 16C>T MELA-AU 19 535852 535852 single base substitution C T upstream_gene_variant MELA-AU 19 535874 535874 single base substitution C G exon_variant MELA-AU 19 535874 535874 single base substitution C G missense_variant P13R 38C>G MELA-AU 19 535874 535874 single base substitution C G missense_variant P29R 86C>G MELA-AU 19 535874 535874 single base substitution C G missense_variant P72R 215C>G MELA-AU 19 535874 535874 single base substitution C G upstream_gene_variant MELA-AU 19 535953 535953 single base substitution C T intron_variant MELA-AU 19 535953 535953 single base substitution C T upstream_gene_variant MELA-AU 19 535997 535997 single base substitution C T intron_variant MELA-AU 19 535997 535997 single base substitution C T upstream_gene_variant MELA-AU 19 535998 535998 single base substitution C T intron_variant MELA-AU 19 535998 535998 single base substitution C T upstream_gene_variant MELA-AU 19 536172 536172 single base substitution C T intron_variant MELA-AU 19 536172 536172 single base substitution C T upstream_gene_variant MELA-AU 19 536273 536273 single base substitution C T exon_variant MELA-AU 19 536273 536273 single base substitution C T missense_variant P40S 118C>T MELA-AU 19 536273 536273 single base substitution C T missense_variant P56S 166C>T MELA-AU 19 536273 536273 single base substitution C T missense_variant P99S 295C>T MELA-AU 19 536273 536273 single base substitution C T upstream_gene_variant MELA-AU 19 536358 536358 single base substitution C T exon_variant MELA-AU 19 536358 536358 single base substitution C T intron_variant MELA-AU 19 536358 536358 single base substitution C T upstream_gene_variant MELA-AU 19 536365 536365 single base substitution C T exon_variant MELA-AU 19 536365 536365 single base substitution C T intron_variant MELA-AU 19 536365 536365 single base substitution C T upstream_gene_variant MELA-AU 19 536393 536393 single base substitution C T exon_variant MELA-AU 19 536393 536393 single base substitution C T intron_variant MELA-AU 19 536393 536393 single base substitution C T upstream_gene_variant MELA-AU 19 536434 536434 single base substitution C T exon_variant MELA-AU 19 536434 536434 single base substitution C T intron_variant MELA-AU 19 536434 536434 single base substitution C T upstream_gene_variant MELA-AU 19 536580 536580 single base substitution C T exon_variant MELA-AU 19 536580 536580 single base substitution C T intron_variant MELA-AU 19 536580 536580 single base substitution C T upstream_gene_variant MELA-AU 19 536847 536847 single base substitution C T downstream_gene_variant MELA-AU 19 536847 536847 single base substitution C T intron_variant MELA-AU 19 536847 536847 single base substitution C T upstream_gene_variant MELA-AU 19 536993 536993 single base substitution C T downstream_gene_variant MELA-AU 19 536993 536993 single base substitution C T intron_variant MELA-AU 19 536993 536993 single base substitution C T missense_variant P15S 43C>T MELA-AU 19 536993 536993 single base substitution C T upstream_gene_variant MELA-AU 19 537063 537063 single base substitution C T downstream_gene_variant MELA-AU 19 537063 537063 single base substitution C T exon_variant MELA-AU 19 537063 537063 single base substitution C T intron_variant MELA-AU 19 537063 537063 single base substitution C T missense_variant S138L 413C>T MELA-AU 19 537063 537063 single base substitution C T missense_variant S18L 53C>T MELA-AU 19 537063 537063 single base substitution C T missense_variant S38L 113C>T MELA-AU 19 537063 537063 single base substitution C T missense_variant S79L 236C>T MELA-AU 19 537063 537063 single base substitution C T missense_variant S95L 284C>T MELA-AU 19 537063 537063 single base substitution C T upstream_gene_variant MELA-AU 19 537380 537381 deletion of <=200bp TC - downstream_gene_variant MELA-AU 19 537380 537381 deletion of <=200bp TC - intron_variant MELA-AU 19 537380 537381 deletion of <=200bp TC - upstream_gene_variant MELA-AU 19 538040 538040 single base substitution G A downstream_gene_variant MELA-AU 19 538040 538040 single base substitution G A intron_variant MELA-AU 19 538040 538040 single base substitution G A upstream_gene_variant MELA-AU 19 538195 538195 single base substitution C T downstream_gene_variant MELA-AU 19 538195 538195 single base substitution C T intron_variant MELA-AU 19 538195 538195 single base substitution C T upstream_gene_variant MELA-AU 19 539334 539334 single base substitution C T downstream_gene_variant MELA-AU 19 539334 539334 single base substitution C T intron_variant MELA-AU 19 539334 539334 single base substitution C T upstream_gene_variant MELA-AU 19 539444 539444 single base substitution C T downstream_gene_variant MELA-AU 19 539444 539444 single base substitution C T intron_variant MELA-AU 19 539444 539444 single base substitution C T upstream_gene_variant MELA-AU 19 539799 539799 single base substitution C T downstream_gene_variant MELA-AU 19 539799 539799 single base substitution C T intron_variant MELA-AU 19 539799 539799 single base substitution C T upstream_gene_variant MELA-AU 19 540932 540932 single base substitution C T downstream_gene_variant MELA-AU 19 540932 540932 single base substitution C T intron_variant MELA-AU 19 540932 540932 single base substitution C T upstream_gene_variant MELA-AU 19 541599 541599 single base substitution C T 3_prime_UTR_variant MELA-AU 19 541599 541599 single base substitution C T downstream_gene_variant MELA-AU 19 541599 541599 single base substitution C T intron_variant MELA-AU 19 541803 541803 single base substitution C T 3_prime_UTR_variant MELA-AU 19 541803 541803 single base substitution C T downstream_gene_variant MELA-AU 19 541803 541803 single base substitution C T intron_variant MELA-AU 19 541836 541836 single base substitution C T 3_prime_UTR_variant MELA-AU 19 541836 541836 single base substitution C T downstream_gene_variant MELA-AU 19 542043 542043 single base substitution C T 3_prime_UTR_variant MELA-AU 19 542043 542043 single base substitution C T downstream_gene_variant MELA-AU 19 542246 542246 single base substitution C T downstream_gene_variant MELA-AU 19 542727 542727 single base substitution C T downstream_gene_variant MELA-AU 19 542825 542825 single base substitution C T downstream_gene_variant MELA-AU 19 543044 543044 single base substitution G A downstream_gene_variant MELA-AU 19 543290 543290 single base substitution G A downstream_gene_variant MELA-AU 19 543514 543514 single base substitution G A downstream_gene_variant MELA-AU 19 544523 544531 deletion of <=200bp CTAGGTGCC - downstream_gene_variant MELA-AU 19 544640 544640 single base substitution G A downstream_gene_variant MELA-AU 19 545300 545300 single base substitution G A downstream_gene_variant MELA-AU 19 545501 545501 single base substitution C T downstream_gene_variant MELA-AU 19 545836 545836 single base substitution G A downstream_gene_variant MELA-AU 19 545897 545897 single base substitution C T downstream_gene_variant MELA-AU 19 546587 546587 single base substitution C T downstream_gene_variant MELA-AU 19 546618 546618 single base substitution T G downstream_gene_variant MELA-AU 19 546800 546800 single base substitution T C downstream_gene_variant OV-AU 19 532772 532772 single base substitution A G intron_variant OV-AU 19 532772 532772 single base substitution A G upstream_gene_variant OV-AU 19 538932 538932 single base substitution G T downstream_gene_variant OV-AU 19 538932 538932 single base substitution G T intron_variant OV-AU 19 538932 538932 single base substitution G T missense_variant V77L 229G>T OV-AU 19 538932 538932 single base substitution G T upstream_gene_variant OV-AU 19 539930 539930 single base substitution T C downstream_gene_variant OV-AU 19 539930 539930 single base substitution T C intron_variant OV-AU 19 539930 539930 single base substitution T C upstream_gene_variant OV-AU 19 543111 543111 single base substitution C A downstream_gene_variant OV-AU 19 545300 545300 single base substitution G C downstream_gene_variant PACA-AU 19 537251 537251 single base substitution C T downstream_gene_variant PACA-AU 19 537251 537251 single base substitution C T intron_variant PACA-AU 19 537251 537251 single base substitution C T upstream_gene_variant PACA-AU 19 538898 538898 single base substitution G A downstream_gene_variant PACA-AU 19 538898 538898 single base substitution G A intron_variant PACA-AU 19 538898 538898 single base substitution G A upstream_gene_variant PACA-AU 19 538994 538994 single base substitution C G downstream_gene_variant PACA-AU 19 538994 538994 single base substitution C G intron_variant PACA-AU 19 538994 538994 single base substitution C G missense_variant I97M 291C>G PACA-AU 19 538994 538994 single base substitution C G upstream_gene_variant PACA-AU 19 545508 545508 single base substitution G A downstream_gene_variant PACA-CA 19 526803 526803 single base substitution G T upstream_gene_variant PACA-CA 19 539168 539168 single base substitution G A downstream_gene_variant PACA-CA 19 539168 539168 single base substitution G A intron_variant PACA-CA 19 539168 539168 single base substitution G A upstream_gene_variant PACA-CA 19 541826 541826 single base substitution C T 3_prime_UTR_variant PACA-CA 19 541826 541826 single base substitution C T downstream_gene_variant PACA-CA 19 544122 544122 deletion of <=200bp A - downstream_gene_variant PACA-CA 19 546225 546225 single base substitution A G downstream_gene_variant PAEN-AU 19 528030 528030 single base substitution T G upstream_gene_variant PAEN-AU 19 532121 532121 single base substitution A C intron_variant PAEN-AU 19 532121 532121 single base substitution A C upstream_gene_variant PAEN-AU 19 534359 534359 single base substitution A C intron_variant PAEN-AU 19 534359 534359 single base substitution A C upstream_gene_variant PAEN-AU 19 543709 543709 single base substitution G T downstream_gene_variant PAEN-IT 19 539509 539509 single base substitution G A downstream_gene_variant PAEN-IT 19 539509 539509 single base substitution G A intron_variant PAEN-IT 19 539509 539509 single base substitution G A upstream_gene_variant PBCA-DE 19 534476 534476 single base substitution C A intron_variant PBCA-DE 19 534476 534476 single base substitution C A upstream_gene_variant PBCA-DE 19 534549 534549 deletion of <=200bp G - intron_variant PBCA-DE 19 534549 534549 deletion of <=200bp G - upstream_gene_variant PBCA-DE 19 534554 534554 insertion of <=200bp - TG intron_variant PBCA-DE 19 534554 534554 insertion of <=200bp - TG upstream_gene_variant PBCA-DE 19 534612 534612 single base substitution A G intron_variant PBCA-DE 19 534612 534612 single base substitution A G upstream_gene_variant PBCA-DE 19 536046 536046 single base substitution C T intron_variant PBCA-DE 19 536046 536046 single base substitution C T upstream_gene_variant PBCA-DE 19 536086 536086 single base substitution C T intron_variant PBCA-DE 19 536086 536086 single base substitution C T upstream_gene_variant PBCA-DE 19 536090 536090 single base substitution A G intron_variant PBCA-DE 19 536090 536090 single base substitution A G upstream_gene_variant PBCA-DE 19 536108 536108 single base substitution G A intron_variant PBCA-DE 19 536108 536108 single base substitution G A upstream_gene_variant PBCA-DE 19 540725 540725 insertion of <=200bp - T downstream_gene_variant PBCA-DE 19 540725 540725 insertion of <=200bp - T intron_variant PBCA-DE 19 540725 540725 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 540799 540799 insertion of <=200bp - T downstream_gene_variant PBCA-DE 19 540799 540799 insertion of <=200bp - T intron_variant PBCA-DE 19 540799 540799 insertion of <=200bp - T upstream_gene_variant PBCA-DE 19 541287 541287 single base substitution G A downstream_gene_variant PBCA-DE 19 541287 541287 single base substitution G A intron_variant PBCA-DE 19 544911 544914 deletion of <=200bp CCTC - downstream_gene_variant PBCA-DE 19 544930 544933 deletion of <=200bp CCCG - downstream_gene_variant PBCA-DE 19 545649 545649 insertion of <=200bp - T downstream_gene_variant PRAD-CA 19 534799 534799 single base substitution G A intron_variant PRAD-CA 19 534799 534799 single base substitution G A upstream_gene_variant PRAD-CA 19 534817 534817 single base substitution G A intron_variant PRAD-CA 19 534817 534817 single base substitution G A upstream_gene_variant PRAD-CA 19 535510 535510 single base substitution C T intron_variant PRAD-CA 19 535510 535510 single base substitution C T upstream_gene_variant PRAD-CA 19 540009 540009 single base substitution C T downstream_gene_variant PRAD-CA 19 540009 540009 single base substitution C T intron_variant PRAD-CA 19 540009 540009 single base substitution C T upstream_gene_variant PRAD-CA 19 540023 540023 single base substitution G A downstream_gene_variant PRAD-CA 19 540023 540023 single base substitution G A intron_variant PRAD-CA 19 540023 540023 single base substitution G A upstream_gene_variant PRAD-CA 19 540042 540042 single base substitution C T downstream_gene_variant PRAD-CA 19 540042 540042 single base substitution C T intron_variant PRAD-CA 19 540042 540042 single base substitution C T upstream_gene_variant PRAD-CA 19 540068 540068 single base substitution G A downstream_gene_variant PRAD-CA 19 540068 540068 single base substitution G A intron_variant PRAD-CA 19 540068 540068 single base substitution G A upstream_gene_variant PRAD-UK 19 534736 534736 single base substitution C T intron_variant PRAD-UK 19 534736 534736 single base substitution C T upstream_gene_variant PRAD-UK 19 535279 535279 single base substitution G C intron_variant PRAD-UK 19 535279 535279 single base substitution G C upstream_gene_variant RECA-EU 19 540969 540969 single base substitution T C downstream_gene_variant RECA-EU 19 540969 540969 single base substitution T C intron_variant RECA-EU 19 540969 540969 single base substitution T C upstream_gene_variant SKCA-BR 19 526764 526773 deletion of <=200bp CATTTTTTTT - upstream_gene_variant SKCA-BR 19 526764 526781 deletion of <=200bp CATTTTTTTTTTTTTTTT - upstream_gene_variant SKCA-BR 19 526765 526765 single base substitution A T upstream_gene_variant SKCA-BR 19 527388 527388 single base substitution G A upstream_gene_variant SKCA-BR 19 528018 528018 single base substitution G A upstream_gene_variant SKCA-BR 19 528365 528365 single base substitution G A upstream_gene_variant SKCA-BR 19 532480 532480 single base substitution T C intron_variant SKCA-BR 19 532480 532480 single base substitution T C upstream_gene_variant SKCA-BR 19 534419 534419 single base substitution A G intron_variant SKCA-BR 19 534419 534419 single base substitution A G upstream_gene_variant SKCA-BR 19 534426 534426 single base substitution C T intron_variant SKCA-BR 19 534426 534426 single base substitution C T upstream_gene_variant SKCA-BR 19 534434 534434 single base substitution A G intron_variant SKCA-BR 19 534434 534434 single base substitution A G upstream_gene_variant SKCA-BR 19 534458 534459 deletion of <=200bp CT - intron_variant SKCA-BR 19 534458 534459 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 19 534471 534471 single base substitution C T intron_variant SKCA-BR 19 534471 534471 single base substitution C T upstream_gene_variant SKCA-BR 19 534479 534479 single base substitution A G intron_variant SKCA-BR 19 534479 534479 single base substitution A G upstream_gene_variant SKCA-BR 19 534856 534857 deletion of <=200bp CT - intron_variant SKCA-BR 19 534856 534857 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 19 536038 536038 insertion of <=200bp - CT intron_variant SKCA-BR 19 536038 536038 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 19 536046 536046 single base substitution C T intron_variant SKCA-BR 19 536046 536046 single base substitution C T upstream_gene_variant SKCA-BR 19 536717 536717 single base substitution T A downstream_gene_variant SKCA-BR 19 536717 536717 single base substitution T A intron_variant SKCA-BR 19 536717 536717 single base substitution T A upstream_gene_variant SKCA-BR 19 538238 538238 single base substitution C T downstream_gene_variant SKCA-BR 19 538238 538238 single base substitution C T intron_variant SKCA-BR 19 538238 538238 single base substitution C T upstream_gene_variant SKCA-BR 19 540004 540004 insertion of <=200bp - GC downstream_gene_variant SKCA-BR 19 540004 540004 insertion of <=200bp - GC intron_variant SKCA-BR 19 540004 540004 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 19 540147 540147 single base substitution G A downstream_gene_variant SKCA-BR 19 540147 540147 single base substitution G A intron_variant SKCA-BR 19 540147 540147 single base substitution G A upstream_gene_variant SKCA-BR 19 540630 540630 single base substitution G A downstream_gene_variant SKCA-BR 19 540630 540630 single base substitution G A intron_variant SKCA-BR 19 540630 540630 single base substitution G A upstream_gene_variant SKCA-BR 19 540640 540640 single base substitution G A downstream_gene_variant SKCA-BR 19 540640 540640 single base substitution G A intron_variant SKCA-BR 19 540640 540640 single base substitution G A upstream_gene_variant SKCA-BR 19 540649 540649 single base substitution C G downstream_gene_variant SKCA-BR 19 540649 540649 single base substitution C G intron_variant SKCA-BR 19 540649 540649 single base substitution C G upstream_gene_variant SKCA-BR 19 540655 540655 single base substitution G A downstream_gene_variant SKCA-BR 19 540655 540655 single base substitution G A intron_variant SKCA-BR 19 540655 540655 single base substitution G A upstream_gene_variant SKCA-BR 19 540668 540668 single base substitution G A downstream_gene_variant SKCA-BR 19 540668 540668 single base substitution G A intron_variant SKCA-BR 19 540668 540668 single base substitution G A upstream_gene_variant SKCA-BR 19 540767 540767 single base substitution G A downstream_gene_variant SKCA-BR 19 540767 540767 single base substitution G A intron_variant SKCA-BR 19 540767 540767 single base substitution G A upstream_gene_variant SKCA-BR 19 540780 540780 single base substitution A G downstream_gene_variant SKCA-BR 19 540780 540780 single base substitution A G intron_variant SKCA-BR 19 540780 540780 single base substitution A G upstream_gene_variant SKCA-BR 19 540786 540786 single base substitution T C downstream_gene_variant SKCA-BR 19 540786 540786 single base substitution T C intron_variant SKCA-BR 19 540786 540786 single base substitution T C upstream_gene_variant SKCA-BR 19 540799 540799 single base substitution C T downstream_gene_variant SKCA-BR 19 540799 540799 single base substitution C T intron_variant SKCA-BR 19 540799 540799 single base substitution C T upstream_gene_variant SKCA-BR 19 541095 541095 single base substitution C T downstream_gene_variant SKCA-BR 19 541095 541095 single base substitution C T intron_variant SKCA-BR 19 541095 541095 single base substitution C T upstream_gene_variant SKCA-BR 19 541726 541726 single base substitution A G 3_prime_UTR_variant SKCA-BR 19 541726 541726 single base substitution A G downstream_gene_variant SKCA-BR 19 541726 541726 single base substitution A G intron_variant SKCA-BR 19 541843 541843 single base substitution C T 3_prime_UTR_variant SKCA-BR 19 541843 541843 single base substitution C T downstream_gene_variant SKCA-BR 19 542559 542559 single base substitution C T downstream_gene_variant SKCA-BR 19 542673 542673 single base substitution G A downstream_gene_variant SKCA-BR 19 544733 544733 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 19 545138 545138 single base substitution C T downstream_gene_variant SKCA-BR 19 545593 545593 single base substitution T C downstream_gene_variant SKCM-US 19 535852 535852 single base substitution C T exon_variant SKCM-US 19 535852 535852 single base substitution C T missense_variant P22S 64C>T SKCM-US 19 535852 535852 single base substitution C T missense_variant P65S 193C>T SKCM-US 19 535852 535852 single base substitution C T missense_variant P6S 16C>T SKCM-US 19 535852 535852 single base substitution C T upstream_gene_variant SKCM-US 19 535879 535879 single base substitution G A exon_variant SKCM-US 19 535879 535879 single base substitution G A missense_variant A15T 43G>A SKCM-US 19 535879 535879 single base substitution G A missense_variant A31T 91G>A SKCM-US 19 535879 535879 single base substitution G A missense_variant A74T 220G>A SKCM-US 19 535879 535879 single base substitution G A upstream_gene_variant SKCM-US 19 535890 535890 single base substitution C T exon_variant SKCM-US 19 535890 535890 single base substitution C T synonymous_variant F18F 54C>T SKCM-US 19 535890 535890 single base substitution C T synonymous_variant F34F 102C>T SKCM-US 19 535890 535890 single base substitution C T synonymous_variant F77F 231C>T SKCM-US 19 535890 535890 single base substitution C T upstream_gene_variant SKCM-US 19 536311 536311 single base substitution A G exon_variant SKCM-US 19 536311 536311 single base substitution A G intron_variant SKCM-US 19 536311 536311 single base substitution A G synonymous_variant S111S 333A>G SKCM-US 19 536311 536311 single base substitution A G synonymous_variant S52S 156A>G SKCM-US 19 536311 536311 single base substitution A G synonymous_variant S68S 204A>G SKCM-US 19 536311 536311 single base substitution A G upstream_gene_variant STAD-US 19 535840 535840 single base substitution C T exon_variant STAD-US 19 535840 535840 single base substitution C T missense_variant R18C 52C>T STAD-US 19 535840 535840 single base substitution C T missense_variant R2C 4C>T STAD-US 19 535840 535840 single base substitution C T missense_variant R61C 181C>T STAD-US 19 535840 535840 single base substitution C T upstream_gene_variant STAD-US 19 537097 537097 single base substitution G A downstream_gene_variant STAD-US 19 537097 537097 single base substitution G A exon_variant STAD-US 19 537097 537097 single base substitution G A intron_variant STAD-US 19 537097 537097 single base substitution G A synonymous_variant R106R 318G>A STAD-US 19 537097 537097 single base substitution G A synonymous_variant R149R 447G>A STAD-US 19 537097 537097 single base substitution G A synonymous_variant R29R 87G>A STAD-US 19 537097 537097 single base substitution G A synonymous_variant R49R 147G>A STAD-US 19 537097 537097 single base substitution G A synonymous_variant R90R 270G>A STAD-US 19 537097 537097 single base substitution G A upstream_gene_variant STAD-US 19 541398 541398 single base substitution C T 3_prime_UTR_variant STAD-US 19 541398 541398 single base substitution C T downstream_gene_variant STAD-US 19 541398 541398 single base substitution C T missense_variant T186M 557C>T STAD-US 19 541398 541398 single base substitution C T missense_variant T54M 161C>T STAD-US 19 541398 541398 single base substitution C T missense_variant T86M 257C>T THCA-SA 19 532066 532066 single base substitution C T exon_variant THCA-SA 19 532066 532066 single base substitution C T synonymous_variant I2I 6C>T THCA-SA 19 532066 532066 single base substitution C T synonymous_variant I45I 135C>T THCA-SA 19 532066 532066 single base substitution C T upstream_gene_variant THCA-SA 19 541917 541917 single base substitution C T 3_prime_UTR_variant THCA-SA 19 541917 541917 single base substitution C T downstream_gene_variant THCA-SA 19 542009 542009 single base substitution A T 3_prime_UTR_variant THCA-SA 19 542009 542009 single base substitution A T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-7703-01 COSM4081011 c.447G>A p.R149R Substitution - coding silent 19:537097-537097 + T3204 COSM4670672 c.634G>A p.E212K Substitution - Missense 19:541475-541475 + SCC-15 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + CSCC-38-T COSM4494520 c.434C>T p.S145F Substitution - Missense 19:537084-537084 + WSU-HN8 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + SCC-25 COSM4286509 c.287T>C p.I96T Substitution - Missense 19:536265-536265 + Pat_16_B COSM5856616 c.320G>A p.G107E Substitution - Missense 19:536298-536298 + J46_T COSM3960432 c.660C>T p.A220A Substitution - coding silent 19:541501-541501 + SCC-25 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + CSCC-7-T COSM4517450 c.345_346CC>TT p.P116S Substitution - Missense 19:536323-536324 + CHC898T COSM5347358 c.702_707delGGAGTC p.E234_S236>D Complex - deletion inframe 19:541543-541548 + SCC-15 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + TCGA-EE-A2MC-06 COSM3538258 c.220G>A p.A74T Substitution - Missense 19:535879-535879 + 93VU147T COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + PTC-28C COSM1526286 c.365C>T p.T122I Substitution - Missense 19:537015-537015 + GHE0776 COSM5714793 c.436G>A p.V146M Substitution - Missense 19:537086-537086 + RKO COSM4648328 c.30G>T p.Q10H Substitution - Missense 19:531961-531961 + WSU-HN13 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + KM12 COSM2927730 c.146C>T p.P49L Substitution - Missense 19:532077-532077 + TCGA-AD-6895-01 COSM1394282 c.179C>T p.A60V Substitution - Missense 19:535838-535838 + TCGA-DK-A3WW-01 COSM3797483 c.528G>A p.A176A Substitution - coding silent 19:541369-541369 + TCGA-HU-A4GQ-01 COSM4081070 c.557C>T p.T186M Substitution - Missense 19:541398-541398 + ORL-48 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + RKO COSM2928934 c.617T>C p.F206S Substitution - Missense 19:541458-541458 + UM-SCC-11B COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + WSU-HN13 COSM4286509 c.287T>C p.I96T Substitution - Missense 19:536265-536265 + CAL27 COSM2927729 c.100G>A p.D34N Substitution - Missense 19:532031-532031 + NOKSI COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + 1953_T COSM3960415 c.265-6G>A p.? Unknown 19:536237-536237 + SCC-9 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + CAL33 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + CHC898T COSM4953714 c.708C>A p.S236S Substitution - coding silent 19:541549-541549 + WSU-HN8 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + SCC-9 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + TCGA-DA-A3F8-06 COSM3538259 c.231C>T p.F77F Substitution - coding silent 19:535890-535890 + ESCC_BICR_061T COSM5430799 c.526G>A p.A176T Substitution - Missense 19:541367-541367 + TCGA-F1-6874-01 COSM4080962 c.181C>T p.R61C Substitution - Missense 19:535840-535840 + UM-SCC-2 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + TCGA-ER-A193-06 COSM3538271 c.333A>G p.S111S Substitution - coding silent 19:536311-536311 + TCGA-EE-A29L-06 COSM3538257 c.193C>T p.P65S Substitution - Missense 19:535852-535852 + WSU-HN8 COSM4286509 c.287T>C p.I96T Substitution - Missense 19:536265-536265 + CSCC-10-T COSM4517634 c.386_387CC>TT p.S129F Substitution - Missense 19:537036-537037 + CAL27 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + NOKSI COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + YUKAT COSM5390611 c.461G>A p.S154N Substitution - Missense 19:537111-537111 + SCC-9 COSM4286509 c.287T>C p.I96T Substitution - Missense 19:536265-536265 + TCGA-B6-A402-01 COSM4391714 c.123G>A p.W41* Substitution - Nonsense 19:532054-532054 + CAL27 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + SCC-25 COSM4286510 c.290T>C p.L97P Substitution - Missense 19:536268-536268 + C84 COSM4620090 c.684G>A p.E228E Substitution - coding silent 19:541525-541525 + 05-P8014 COSM4581379 c.622G>C p.D208H Substitution - Missense 19:541463-541463 + WSU-HN13 COSM4590265 c.293A>C p.H98P Substitution - Missense 19:536271-536271 + CHC898T COSM4953714 c.708C>A p.S236S Substitution - coding silent 19:541549-541549 + HCA46 COSM4629399 c.168C>A p.G56G Substitution - coding silent 19:532099-532099 + YURAY COSM5390607 c.346C>T p.P116S Substitution - Missense 19:536324-536324 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.514980;Hs.514997 19p13.3 116948

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.S111S c.333A>G 19 536311 CM C T IntronicSNV . c.265-62C>T 19 536181 CLL C T Missense p.P65S c.193C>T 19 535852 CM C T Missense p.R61C c.181C>T 19 535840 STAD C T Synonymous p.F77F c.231C>T 19 535890 CM CTT - InFrameDeletion p.F137delF c.410_412delTCT 19 537058 LGG G A Missense p.A74T c.220G>A 19 535879 CM G A Missense p.E26K c.76G>A 19 532007 HNSC G T Missense p.D67Y c.199G>T 19 535858 CM G T Missense p.G107W c.319G>T 19 536297 LUAD