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 16 56969206 56969206 + Silent SNP C C G TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr16:56969206C>G c.207C>G c.(205-207)ctC>ctG p.L69L BLCA 16 56970630 56970630 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr16:56970630C>G c.332C>G c.(331-333)tCt>tGt p.S111C BLCA 16 56973211 56973211 + Missense_Mutation SNP A A G TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:56973211A>G c.494A>G c.(493-495)tAt>tGt p.Y165C CESC 16 56966192 56966192 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr16:56966192C>G c.36C>G c.(34-36)ctC>ctG p.L12L CESC 16 56966267 56966267 + Silent SNP C C G TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr16:56966267C>G c.111C>G c.(109-111)ctC>ctG p.L37L CESC 16 56976054 56976054 + Missense_Mutation SNP G G T TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr16:56976054G>T c.916G>T c.(916-918)Ggg>Tgg p.G306W COAD 16 56969317 56969317 + Frame_Shift_Del DEL A A - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:56969317delA c.230delA c.(229-231)gaafs p.E77fs COAD 16 56973164 56973164 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:56973164G>A c.447G>A c.(445-447)caG>caA p.Q149Q COAD 16 56974106 56974106 + Frame_Shift_Del DEL C C - TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr16:56974106delC c.854delC c.(853-855)tccfs p.S286fs COAD 16 56974138 56974138 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:56974138G>A c.886G>A c.(886-888)Gcc>Acc p.A296T COADREAD 16 56969317 56969317 + Frame_Shift_Del DEL A A - TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr16:56969317delA c.230delA c.(229-231)gaafs p.E77fs COADREAD 16 56973164 56973164 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr16:56973164G>A c.447G>A c.(445-447)caG>caA p.Q149Q COADREAD 16 56974106 56974106 + Frame_Shift_Del DEL C C - TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr16:56974106delC c.854delC c.(853-855)tccfs p.S286fs COADREAD 16 56974138 56974138 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:56974138G>A c.886G>A c.(886-888)Gcc>Acc p.A296T ESCA 16 56973168 56973168 + Missense_Mutation SNP G G A TCGA-2H-A9GN-01A-11D-A37C-09 TCGA-2H-A9GN-11A-11D-A37F-09 g.chr16:56973168G>A c.451G>A c.(451-453)Gca>Aca p.A151T GBM 16 56970643 56970643 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr16:56970643G>C c.345G>C c.(343-345)caG>caC p.Q115H GBM 16 56973164 56973164 + Silent SNP G G A TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr16:56973164G>A c.447G>A c.(445-447)caG>caA p.Q149Q GBMLGG 16 56969209 56969209 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:56969209G>T c.210G>T c.(208-210)agG>agT p.R70S GBMLGG 16 56970643 56970643 + Missense_Mutation SNP G G C TCGA-76-4935-01A-01D-1486-08 TCGA-76-4935-10A-01D-1486-08 g.chr16:56970643G>C c.345G>C c.(343-345)caG>caC p.Q115H GBMLGG 16 56973164 56973164 + Silent SNP G G A TCGA-06-0192-01B-01W-0348-08 TCGA-06-0192-10A-01W-0348-08 g.chr16:56973164G>A c.447G>A c.(445-447)caG>caA p.Q149Q HNSC 16 56973962 56973962 + Missense_Mutation SNP A A T TCGA-CQ-5325-01A-01D-1683-08 TCGA-CQ-5325-10A-01D-1683-08 g.chr16:56973962A>T c.710A>T c.(709-711)aAt>aTt p.N237I HNSC 16 56973985 56973985 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr16:56973985C>T c.733C>T c.(733-735)Cgg>Tgg p.R245W HNSC 16 56974084 56974084 + Missense_Mutation SNP C C T TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chr16:56974084C>T c.832C>T c.(832-834)Ctc>Ttc p.L278F HNSC 16 56974109 56974109 + Missense_Mutation SNP C C T TCGA-F7-A61V-01A-11D-A28R-08 TCGA-F7-A61V-10A-01D-A28U-08 g.chr16:56974109C>T c.857C>T c.(856-858)tCc>tTc p.S286F HNSC 16 56977167 56977167 + Missense_Mutation SNP C C G TCGA-CN-4730-01A-01D-1434-08 TCGA-CN-4730-10A-01D-1434-08 g.chr16:56977167C>G c.1141C>G c.(1141-1143)Ctt>Gtt p.L381V KIPAN 16 56970652 56970652 + Missense_Mutation SNP G G T TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr16:56970652G>T c.354G>T c.(352-354)gaG>gaT p.E118D KIPAN 16 56974151 56974151 + Missense_Mutation SNP T T C TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr16:56974151T>C c.899T>C c.(898-900)aTg>aCg p.M300T KIRC 16 56974151 56974151 + Missense_Mutation SNP T T C TCGA-BP-5176-01A-01D-1429-08 TCGA-BP-5176-11A-01D-1429-08 g.chr16:56974151T>C c.899T>C c.(898-900)aTg>aCg p.M300T KIRP 16 56970652 56970652 + Missense_Mutation SNP G G T TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr16:56970652G>T c.354G>T c.(352-354)gaG>gaT p.E118D LGG 16 56969209 56969209 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:56969209G>T c.210G>T c.(208-210)agG>agT p.R70S LUAD 16 56974053 56974053 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr16:56974053G>C c.801G>C c.(799-801)tgG>tgC p.W267C LUAD 16 56974113 56974113 + Silent SNP G G A TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr16:56974113G>A c.861G>A c.(859-861)ctG>ctA p.L287L LUAD 16 56976133 56976133 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr16:56976133C>T c.995C>T c.(994-996)cCc>cTc p.P332L LUSC 16 56977077 56977077 + Missense_Mutation SNP C C T TCGA-18-4083-01A-01D-1352-08 TCGA-18-4083-11A-01D-1352-08 g.chr16:56977077C>T c.1051C>T c.(1051-1053)Cct>Tct p.P351S PAAD 16 56973198 56973198 + Missense_Mutation SNP G G A TCGA-3A-A9IX-01A-11D-A40W-08 TCGA-3A-A9IX-10A-01D-A40W-08 g.chr16:56973198G>A c.481G>A c.(481-483)Ggt>Agt p.G161S PAAD 16 56973916 56973916 + Nonsense_Mutation SNP G G T TCGA-IB-AAUP-01A-11D-A377-08 TCGA-IB-AAUP-10A-01D-A37A-08 g.chr16:56973916G>T c.664G>T c.(664-666)Gaa>Taa p.E222* PAAD 16 56977193 56977193 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:56977193C>T c.1167C>T c.(1165-1167)atC>atT p.I389I PRAD 16 56976046 56976046 + Missense_Mutation SNP A A G TCGA-CH-5772-01A-11D-1576-08 TCGA-CH-5772-11A-01D-1576-08 g.chr16:56976046A>G c.908A>G c.(907-909)cAt>cGt p.H303R SKCM 16 56973251 56973251 + Silent SNP A A T TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr16:56973251A>T c.534A>T c.(532-534)gcA>gcT p.A178A SKCM 16 56976078 56976078 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:56976078C>T c.940C>T c.(940-942)Ccg>Tcg p.P314S SKCM 16 56976092 56976092 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr16:56976092C>T c.954C>T c.(952-954)ttC>ttT p.F318F SKCM 16 56977170 56977170 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr16:56977170C>T c.1144C>T c.(1144-1146)Ctt>Ttt p.L382F

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 16 56973153 56973153 single base substitution G C 3_prime_UTR_variant BLCA-CN 16 56973153 56973153 single base substitution G C downstream_gene_variant BLCA-CN 16 56973153 56973153 single base substitution G C exon_variant BLCA-CN 16 56973153 56973153 single base substitution G C intron_variant BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E104Q 310G>C BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E121Q 361G>C BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E145Q 433G>C BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E146Q 436G>C BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E70Q 208G>C BLCA-CN 16 56973153 56973153 single base substitution G C missense_variant E79Q 235G>C BLCA-CN 16 56973153 56973153 single base substitution G C upstream_gene_variant BLCA-US 16 56970630 56970630 single base substitution C G 3_prime_UTR_variant BLCA-US 16 56970630 56970630 single base substitution C G downstream_gene_variant BLCA-US 16 56970630 56970630 single base substitution C G exon_variant BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S110C 329C>G BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S111C 332C>G BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S35C 104C>G BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S44C 131C>G BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S69C 206C>G BLCA-US 16 56970630 56970630 single base substitution C G missense_variant S86C 257C>G BLCA-US 16 56970630 56970630 single base substitution C G upstream_gene_variant BRCA-EU 16 56961055 56961055 single base substitution T C upstream_gene_variant BRCA-EU 16 56961229 56961229 single base substitution C G upstream_gene_variant BRCA-EU 16 56961554 56961554 single base substitution C G upstream_gene_variant BRCA-EU 16 56963960 56963960 single base substitution G T upstream_gene_variant BRCA-EU 16 56965222 56965222 single base substitution C G upstream_gene_variant BRCA-EU 16 56966097 56966097 single base substitution G A 5_prime_UTR_variant BRCA-EU 16 56966097 56966097 single base substitution G A exon_variant BRCA-EU 16 56966097 56966097 single base substitution G A upstream_gene_variant BRCA-EU 16 56967791 56967791 single base substitution G A intron_variant BRCA-EU 16 56967791 56967791 single base substitution G A upstream_gene_variant BRCA-EU 16 56969081 56969081 single base substitution A G exon_variant BRCA-EU 16 56969081 56969081 single base substitution A G intron_variant BRCA-EU 16 56969081 56969081 single base substitution A G upstream_gene_variant BRCA-EU 16 56969119 56969119 single base substitution C A exon_variant BRCA-EU 16 56969119 56969119 single base substitution C A intron_variant BRCA-EU 16 56969119 56969119 single base substitution C A upstream_gene_variant BRCA-EU 16 56969571 56969571 single base substitution G A downstream_gene_variant BRCA-EU 16 56969571 56969571 single base substitution G A intron_variant BRCA-EU 16 56969571 56969571 single base substitution G A upstream_gene_variant BRCA-EU 16 56970650 56970650 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 56970650 56970650 single base substitution G A downstream_gene_variant BRCA-EU 16 56970650 56970650 single base substitution G A exon_variant BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E117K 349G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E118K 352G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E42K 124G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E51K 151G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E5K 13G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E76K 226G>A BRCA-EU 16 56970650 56970650 single base substitution G A missense_variant E93K 277G>A BRCA-EU 16 56970650 56970650 single base substitution G A upstream_gene_variant BRCA-EU 16 56974236 56974236 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 56974236 56974236 insertion of <=200bp - T intron_variant BRCA-EU 16 56974236 56974236 insertion of <=200bp - T upstream_gene_variant BRCA-EU 16 56974244 56974244 single base substitution G A downstream_gene_variant BRCA-EU 16 56974244 56974244 single base substitution G A intron_variant BRCA-EU 16 56974244 56974244 single base substitution G A upstream_gene_variant BRCA-EU 16 56974275 56974275 single base substitution G A downstream_gene_variant BRCA-EU 16 56974275 56974275 single base substitution G A intron_variant BRCA-EU 16 56974275 56974275 single base substitution G A upstream_gene_variant BRCA-EU 16 56974707 56974707 single base substitution C T downstream_gene_variant BRCA-EU 16 56974707 56974707 single base substitution C T intron_variant BRCA-EU 16 56974707 56974707 single base substitution C T upstream_gene_variant BRCA-EU 16 56974803 56974803 single base substitution G C downstream_gene_variant BRCA-EU 16 56974803 56974803 single base substitution G C intron_variant BRCA-EU 16 56974803 56974803 single base substitution G C upstream_gene_variant BRCA-EU 16 56975449 56975449 single base substitution C T downstream_gene_variant BRCA-EU 16 56975449 56975449 single base substitution C T intron_variant BRCA-EU 16 56975449 56975449 single base substitution C T upstream_gene_variant BRCA-EU 16 56975801 56975801 single base substitution A G downstream_gene_variant BRCA-EU 16 56975801 56975801 single base substitution A G intron_variant BRCA-EU 16 56975801 56975801 single base substitution A G upstream_gene_variant BRCA-EU 16 56976330 56976330 single base substitution C G downstream_gene_variant BRCA-EU 16 56976330 56976330 single base substitution C G intron_variant BRCA-EU 16 56976712 56976712 single base substitution A T downstream_gene_variant BRCA-EU 16 56976712 56976712 single base substitution A T intron_variant BRCA-EU 16 56978249 56978249 single base substitution C T downstream_gene_variant BRCA-EU 16 56979661 56979661 single base substitution G C downstream_gene_variant BRCA-EU 16 56980695 56980695 single base substitution G A downstream_gene_variant BRCA-FR 16 56961229 56961229 single base substitution C G upstream_gene_variant BRCA-FR 16 56974803 56974803 single base substitution G C downstream_gene_variant BRCA-FR 16 56974803 56974803 single base substitution G C intron_variant BRCA-FR 16 56974803 56974803 single base substitution G C upstream_gene_variant CESC-US 16 56966192 56966192 single base substitution C G exon_variant CESC-US 16 56966192 56966192 single base substitution C G synonymous_variant L12L 36C>G CESC-US 16 56966192 56966192 single base substitution C G upstream_gene_variant CESC-US 16 56966267 56966267 single base substitution C G exon_variant CESC-US 16 56966267 56966267 single base substitution C G synonymous_variant L37L 111C>G CESC-US 16 56966267 56966267 single base substitution C G upstream_gene_variant CESC-US 16 56976054 56976054 single base substitution G T downstream_gene_variant CESC-US 16 56976054 56976054 single base substitution G T exon_variant CESC-US 16 56976054 56976054 single base substitution G T intron_variant CESC-US 16 56976054 56976054 single base substitution G T missense_variant G147W 439G>T CESC-US 16 56976054 56976054 single base substitution G T missense_variant G152W 454G>T CESC-US 16 56976054 56976054 single base substitution G T missense_variant G281W 841G>T CESC-US 16 56976054 56976054 single base substitution G T missense_variant G305W 913G>T CESC-US 16 56976054 56976054 single base substitution G T missense_variant G306W 916G>T CESC-US 16 56976054 56976054 single base substitution G T missense_variant G64W 190G>T COAD-US 16 56969148 56969148 single base substitution G A exon_variant COAD-US 16 56969148 56969148 single base substitution G A missense_variant R50H 149G>A COAD-US 16 56969148 56969148 single base substitution G A missense_variant R8H 23G>A COAD-US 16 56969148 56969148 single base substitution G A splice_region_variant COAD-US 16 56969148 56969148 single base substitution G A upstream_gene_variant COAD-US 16 56969317 56969317 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 16 56969317 56969317 deletion of <=200bp A - exon_variant COAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E1 COAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E35 COAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E76 COAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E77 COAD-US 16 56969317 56969317 deletion of <=200bp A - intron_variant COAD-US 16 56969317 56969317 deletion of <=200bp A - upstream_gene_variant COAD-US 16 56969381 56969381 single base substitution C T 3_prime_UTR_variant COAD-US 16 56969381 56969381 single base substitution C T exon_variant COAD-US 16 56969381 56969381 single base substitution C T intron_variant COAD-US 16 56969381 56969381 single base substitution C T synonymous_variant N22N 66C>T COAD-US 16 56969381 56969381 single base substitution C T synonymous_variant N56N 168C>T COAD-US 16 56969381 56969381 single base substitution C T synonymous_variant N97N 291C>T COAD-US 16 56969381 56969381 single base substitution C T synonymous_variant N98N 294C>T COAD-US 16 56969381 56969381 single base substitution C T upstream_gene_variant COAD-US 16 56974106 56974106 deletion of <=200bp C - downstream_gene_variant COAD-US 16 56974106 56974106 deletion of <=200bp C - exon_variant COAD-US 16 56974106 56974106 deletion of <=200bp C - frameshift_variant S131 COAD-US 16 56974106 56974106 deletion of <=200bp C - frameshift_variant S260 COAD-US 16 56974106 56974106 deletion of <=200bp C - frameshift_variant S284 COAD-US 16 56974106 56974106 deletion of <=200bp C - frameshift_variant S285 COAD-US 16 56974106 56974106 deletion of <=200bp C - frameshift_variant S43 COAD-US 16 56974106 56974106 deletion of <=200bp C - intron_variant COAD-US 16 56974106 56974106 deletion of <=200bp C - upstream_gene_variant COCA-CN 16 56965969 56965969 single base substitution A G 5_prime_UTR_variant COCA-CN 16 56965969 56965969 single base substitution A G upstream_gene_variant ESAD-UK 16 56962759 56962759 single base substitution T A upstream_gene_variant ESAD-UK 16 56964308 56964308 single base substitution C T upstream_gene_variant ESAD-UK 16 56965759 56965759 single base substitution G A upstream_gene_variant ESAD-UK 16 56966858 56966858 single base substitution C T intron_variant ESAD-UK 16 56966858 56966858 single base substitution C T upstream_gene_variant ESAD-UK 16 56969850 56969850 single base substitution T A downstream_gene_variant ESAD-UK 16 56969850 56969850 single base substitution T A intron_variant ESAD-UK 16 56969850 56969850 single base substitution T A upstream_gene_variant ESAD-UK 16 56971537 56971537 single base substitution T A downstream_gene_variant ESAD-UK 16 56971537 56971537 single base substitution T A intron_variant ESAD-UK 16 56971537 56971537 single base substitution T A upstream_gene_variant ESAD-UK 16 56973577 56973598 deletion of <=200bp TTACAGTGGGCTTGATGTTTAA - downstream_gene_variant ESAD-UK 16 56973577 56973598 deletion of <=200bp TTACAGTGGGCTTGATGTTTAA - intron_variant ESAD-UK 16 56973577 56973598 deletion of <=200bp TTACAGTGGGCTTGATGTTTAA - upstream_gene_variant ESAD-UK 16 56975170 56975170 single base substitution A G downstream_gene_variant ESAD-UK 16 56975170 56975170 single base substitution A G intron_variant ESAD-UK 16 56975170 56975170 single base substitution A G upstream_gene_variant ESAD-UK 16 56976690 56976690 single base substitution G C downstream_gene_variant ESAD-UK 16 56976690 56976690 single base substitution G C intron_variant ESAD-UK 16 56978106 56978106 single base substitution C T downstream_gene_variant ESAD-UK 16 56979242 56979242 single base substitution C A downstream_gene_variant GBM-US 16 56970643 56970643 single base substitution G C 3_prime_UTR_variant GBM-US 16 56970643 56970643 single base substitution G C downstream_gene_variant GBM-US 16 56970643 56970643 single base substitution G C exon_variant GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q114H 342G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q115H 345G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q2H 6G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q39H 117G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q48H 144G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q73H 219G>C GBM-US 16 56970643 56970643 single base substitution G C missense_variant Q90H 270G>C GBM-US 16 56970643 56970643 single base substitution G C upstream_gene_variant GBM-US 16 56973164 56973164 single base substitution G A 3_prime_UTR_variant GBM-US 16 56973164 56973164 single base substitution G A downstream_gene_variant GBM-US 16 56973164 56973164 single base substitution G A exon_variant GBM-US 16 56973164 56973164 single base substitution G A intron_variant GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q107Q 321G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q124Q 372G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q148Q 444G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q149Q 447G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q1Q 3G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q73Q 219G>A GBM-US 16 56973164 56973164 single base substitution G A synonymous_variant Q82Q 246G>A GBM-US 16 56973164 56973164 single base substitution G A upstream_gene_variant KIRC-US 16 56974151 56974151 single base substitution T C downstream_gene_variant KIRC-US 16 56974151 56974151 single base substitution T C exon_variant KIRC-US 16 56974151 56974151 single base substitution T C intron_variant KIRC-US 16 56974151 56974151 single base substitution T C missense_variant M146T 437T>C KIRC-US 16 56974151 56974151 single base substitution T C missense_variant M275T 824T>C KIRC-US 16 56974151 56974151 single base substitution T C missense_variant M299T 896T>C KIRC-US 16 56974151 56974151 single base substitution T C missense_variant M300T 899T>C KIRC-US 16 56974151 56974151 single base substitution T C missense_variant M58T 173T>C KIRC-US 16 56974151 56974151 single base substitution T C upstream_gene_variant KIRP-US 16 56974154 56974154 single base substitution A G downstream_gene_variant KIRP-US 16 56974154 56974154 single base substitution A G exon_variant KIRP-US 16 56974154 56974154 single base substitution A G intron_variant KIRP-US 16 56974154 56974154 single base substitution A G missense_variant Y147C 440A>G KIRP-US 16 56974154 56974154 single base substitution A G missense_variant Y276C 827A>G KIRP-US 16 56974154 56974154 single base substitution A G missense_variant Y300C 899A>G KIRP-US 16 56974154 56974154 single base substitution A G missense_variant Y301C 902A>G KIRP-US 16 56974154 56974154 single base substitution A G missense_variant Y59C 176A>G KIRP-US 16 56974154 56974154 single base substitution A G upstream_gene_variant LICA-FR 16 56973948 56973948 single base substitution T A 3_prime_UTR_variant LICA-FR 16 56973948 56973948 single base substitution T A downstream_gene_variant LICA-FR 16 56973948 56973948 single base substitution T A exon_variant LICA-FR 16 56973948 56973948 single base substitution T A intron_variant LICA-FR 16 56973948 56973948 single base substitution T A synonymous_variant P207P 621T>A LICA-FR 16 56973948 56973948 single base substitution T A synonymous_variant P231P 693T>A LICA-FR 16 56973948 56973948 single base substitution T A synonymous_variant P232P 696T>A LICA-FR 16 56973948 56973948 single base substitution T A synonymous_variant P78P 234T>A LICA-FR 16 56973948 56973948 single base substitution T A upstream_gene_variant LICA-FR 16 56982537 56982537 single base substitution A T downstream_gene_variant LINC-JP 16 56963980 56963980 single base substitution C T upstream_gene_variant LINC-JP 16 56966015 56966015 single base substitution G A 5_prime_UTR_variant LINC-JP 16 56966015 56966015 single base substitution G A upstream_gene_variant LINC-JP 16 56969178 56969178 single base substitution G T 3_prime_UTR_variant LINC-JP 16 56969178 56969178 single base substitution G T exon_variant LINC-JP 16 56969178 56969178 single base substitution G T missense_variant G18V 53G>T LINC-JP 16 56969178 56969178 single base substitution G T missense_variant G60V 179G>T LINC-JP 16 56969178 56969178 single base substitution G T upstream_gene_variant LINC-JP 16 56969310 56969310 single base substitution T C exon_variant LINC-JP 16 56969310 56969310 single base substitution T C intron_variant LINC-JP 16 56969310 56969310 single base substitution T C splice_region_variant LINC-JP 16 56969310 56969310 single base substitution T C upstream_gene_variant LINC-JP 16 56970646 56970646 single base substitution T G 3_prime_UTR_variant LINC-JP 16 56970646 56970646 single base substitution T G downstream_gene_variant LINC-JP 16 56970646 56970646 single base substitution T G exon_variant LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y115* 345T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y116* 348T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y3* 9T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y40* 120T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y49* 147T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y74* 222T>G LINC-JP 16 56970646 56970646 single base substitution T G stop_gained Y91* 273T>G LINC-JP 16 56970646 56970646 single base substitution T G upstream_gene_variant LINC-JP 16 56970768 56970768 single base substitution A T downstream_gene_variant LINC-JP 16 56970768 56970768 single base substitution A T exon_variant LINC-JP 16 56970768 56970768 single base substitution A T intron_variant LINC-JP 16 56970768 56970768 single base substitution A T upstream_gene_variant LINC-JP 16 56972152 56972152 single base substitution G A downstream_gene_variant LINC-JP 16 56972152 56972152 single base substitution G A intron_variant LINC-JP 16 56972152 56972152 single base substitution G A upstream_gene_variant LINC-JP 16 56976050 56976050 single base substitution C T downstream_gene_variant LINC-JP 16 56976050 56976050 single base substitution C T exon_variant LINC-JP 16 56976050 56976050 single base substitution C T intron_variant LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H145H 435C>T LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H150H 450C>T LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H279H 837C>T LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H303H 909C>T LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H304H 912C>T LINC-JP 16 56976050 56976050 single base substitution C T synonymous_variant H62H 186C>T LINC-JP 16 56976568 56976568 single base substitution A G downstream_gene_variant LINC-JP 16 56976568 56976568 single base substitution A G intron_variant LINC-JP 16 56977015 56977015 single base substitution C A downstream_gene_variant LINC-JP 16 56977015 56977015 single base substitution C A intron_variant LINC-JP 16 56978934 56978934 single base substitution A G downstream_gene_variant LIRI-JP 16 56968225 56968225 single base substitution A T intron_variant LIRI-JP 16 56968225 56968225 single base substitution A T upstream_gene_variant LIRI-JP 16 56971929 56971929 single base substitution A G downstream_gene_variant LIRI-JP 16 56971929 56971929 single base substitution A G intron_variant LIRI-JP 16 56971929 56971929 single base substitution A G upstream_gene_variant LIRI-JP 16 56974034 56974034 single base substitution A G downstream_gene_variant LIRI-JP 16 56974034 56974034 single base substitution A G exon_variant LIRI-JP 16 56974034 56974034 single base substitution A G intron_variant LIRI-JP 16 56974034 56974034 single base substitution A G missense_variant N107S 320A>G LIRI-JP 16 56974034 56974034 single base substitution A G missense_variant N236S 707A>G LIRI-JP 16 56974034 56974034 single base substitution A G missense_variant N260S 779A>G LIRI-JP 16 56974034 56974034 single base substitution A G missense_variant N261S 782A>G LIRI-JP 16 56974034 56974034 single base substitution A G upstream_gene_variant LIRI-JP 16 56974958 56974958 single base substitution A G downstream_gene_variant LIRI-JP 16 56974958 56974958 single base substitution A G intron_variant LIRI-JP 16 56974958 56974958 single base substitution A G upstream_gene_variant LIRI-JP 16 56975602 56975602 single base substitution G T downstream_gene_variant LIRI-JP 16 56975602 56975602 single base substitution G T intron_variant LIRI-JP 16 56975602 56975602 single base substitution G T upstream_gene_variant LIRI-JP 16 56976809 56976809 single base substitution C T downstream_gene_variant LIRI-JP 16 56976809 56976809 single base substitution C T intron_variant LIRI-JP 16 56978088 56978088 single base substitution T A downstream_gene_variant LIRI-JP 16 56978394 56978394 single base substitution T C downstream_gene_variant LIRI-JP 16 56978699 56978699 insertion of <=200bp - A downstream_gene_variant LIRI-JP 16 56980369 56980369 single base substitution A G downstream_gene_variant LIRI-JP 16 56980476 56980476 single base substitution T G downstream_gene_variant LIRI-JP 16 56981917 56981917 single base substitution T A downstream_gene_variant LUSC-KR 16 56964143 56964143 single base substitution G T upstream_gene_variant LUSC-KR 16 56967022 56967022 single base substitution A T intron_variant LUSC-KR 16 56967022 56967022 single base substitution A T upstream_gene_variant LUSC-KR 16 56967809 56967809 single base substitution A G intron_variant LUSC-KR 16 56967809 56967809 single base substitution A G upstream_gene_variant LUSC-KR 16 56970803 56970803 single base substitution A G downstream_gene_variant LUSC-KR 16 56970803 56970803 single base substitution A G exon_variant LUSC-KR 16 56970803 56970803 single base substitution A G intron_variant LUSC-KR 16 56970803 56970803 single base substitution A G upstream_gene_variant LUSC-KR 16 56980866 56980866 single base substitution C T downstream_gene_variant LUSC-KR 16 56982151 56982151 single base substitution C T downstream_gene_variant LUSC-US 16 56977077 56977077 single base substitution C T 3_prime_UTR_variant LUSC-US 16 56977077 56977077 single base substitution C T downstream_gene_variant LUSC-US 16 56977077 56977077 single base substitution C T exon_variant LUSC-US 16 56977077 56977077 single base substitution C T intron_variant LUSC-US 16 56977077 56977077 single base substitution C T missense_variant P109S 325C>T LUSC-US 16 56977077 56977077 single base substitution C T missense_variant P192S 574C>T LUSC-US 16 56977077 56977077 single base substitution C T missense_variant P326S 976C>T LUSC-US 16 56977077 56977077 single base substitution C T missense_variant P350S 1048C>T LUSC-US 16 56977077 56977077 single base substitution C T missense_variant P351S 1051C>T MALY-DE 16 56963477 56963477 single base substitution T G upstream_gene_variant MALY-DE 16 56966101 56966101 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 16 56966101 56966101 single base substitution C T exon_variant MALY-DE 16 56966101 56966101 single base substitution C T upstream_gene_variant MALY-DE 16 56966342 56966342 single base substitution C T intron_variant MALY-DE 16 56966342 56966342 single base substitution C T upstream_gene_variant MALY-DE 16 56966379 56966379 single base substitution C G intron_variant MALY-DE 16 56966379 56966379 single base substitution C G upstream_gene_variant MALY-DE 16 56966499 56966513 deletion of <=200bp TCAGTAATCAGCAGC - intron_variant MALY-DE 16 56966499 56966513 deletion of <=200bp TCAGTAATCAGCAGC - upstream_gene_variant MALY-DE 16 56966556 56966556 single base substitution C A intron_variant MALY-DE 16 56966556 56966556 single base substitution C A upstream_gene_variant MALY-DE 16 56966605 56966605 single base substitution G A intron_variant MALY-DE 16 56966605 56966605 single base substitution G A upstream_gene_variant MALY-DE 16 56966641 56966641 single base substitution G T intron_variant MALY-DE 16 56966641 56966641 single base substitution G T upstream_gene_variant MALY-DE 16 56966652 56966652 single base substitution C T intron_variant MALY-DE 16 56966652 56966652 single base substitution C T upstream_gene_variant MALY-DE 16 56966655 56966655 single base substitution C T intron_variant MALY-DE 16 56966655 56966655 single base substitution C T upstream_gene_variant MALY-DE 16 56966700 56966700 single base substitution G C intron_variant MALY-DE 16 56966700 56966700 single base substitution G C upstream_gene_variant MALY-DE 16 56966734 56966734 single base substitution G A intron_variant MALY-DE 16 56966734 56966734 single base substitution G A upstream_gene_variant MALY-DE 16 56966767 56966767 single base substitution G T intron_variant MALY-DE 16 56966767 56966767 single base substitution G T upstream_gene_variant MALY-DE 16 56966850 56966850 single base substitution G A intron_variant MALY-DE 16 56966850 56966850 single base substitution G A upstream_gene_variant MALY-DE 16 56966864 56966864 single base substitution C G intron_variant MALY-DE 16 56966864 56966864 single base substitution C G upstream_gene_variant MALY-DE 16 56966866 56966866 single base substitution G A intron_variant MALY-DE 16 56966866 56966866 single base substitution G A upstream_gene_variant MALY-DE 16 56966884 56966884 single base substitution A G intron_variant MALY-DE 16 56966884 56966884 single base substitution A G upstream_gene_variant MALY-DE 16 56966915 56966915 single base substitution G C intron_variant MALY-DE 16 56966915 56966915 single base substitution G C upstream_gene_variant MALY-DE 16 56967879 56967879 single base substitution C T intron_variant MALY-DE 16 56967879 56967879 single base substitution C T upstream_gene_variant MALY-DE 16 56971358 56971358 single base substitution A G downstream_gene_variant MALY-DE 16 56971358 56971358 single base substitution A G intron_variant MALY-DE 16 56971358 56971358 single base substitution A G upstream_gene_variant MALY-DE 16 56971537 56971537 single base substitution T A downstream_gene_variant MALY-DE 16 56971537 56971537 single base substitution T A intron_variant MALY-DE 16 56971537 56971537 single base substitution T A upstream_gene_variant MALY-DE 16 56972102 56972102 single base substitution A T downstream_gene_variant MALY-DE 16 56972102 56972102 single base substitution A T intron_variant MALY-DE 16 56972102 56972102 single base substitution A T upstream_gene_variant MALY-DE 16 56978710 56978710 single base substitution T C downstream_gene_variant MALY-DE 16 56978747 56978747 single base substitution T C downstream_gene_variant MALY-DE 16 56978749 56978749 single base substitution T C downstream_gene_variant MELA-AU 16 56961118 56961118 single base substitution G A upstream_gene_variant MELA-AU 16 56961138 56961138 single base substitution A G upstream_gene_variant MELA-AU 16 56961158 56961158 single base substitution G A upstream_gene_variant MELA-AU 16 56961330 56961330 single base substitution G A upstream_gene_variant MELA-AU 16 56961435 56961435 single base substitution C T upstream_gene_variant MELA-AU 16 56961494 56961494 single base substitution G A upstream_gene_variant MELA-AU 16 56962183 56962183 single base substitution C T upstream_gene_variant MELA-AU 16 56962337 56962337 single base substitution G A upstream_gene_variant MELA-AU 16 56962491 56962491 single base substitution G A upstream_gene_variant MELA-AU 16 56963002 56963002 single base substitution G A upstream_gene_variant MELA-AU 16 56963033 56963033 single base substitution C T upstream_gene_variant MELA-AU 16 56963246 56963246 single base substitution G A upstream_gene_variant MELA-AU 16 56963494 56963494 single base substitution C T upstream_gene_variant MELA-AU 16 56964186 56964186 single base substitution G A upstream_gene_variant MELA-AU 16 56965113 56965113 single base substitution G A upstream_gene_variant MELA-AU 16 56965282 56965282 insertion of <=200bp - T upstream_gene_variant MELA-AU 16 56965495 56965495 single base substitution C T upstream_gene_variant MELA-AU 16 56965830 56965830 single base substitution G A upstream_gene_variant MELA-AU 16 56965886 56965886 single base substitution G A upstream_gene_variant MELA-AU 16 56965923 56965923 single base substitution G A upstream_gene_variant MELA-AU 16 56965924 56965924 single base substitution G A upstream_gene_variant MELA-AU 16 56965950 56965950 single base substitution G A upstream_gene_variant MELA-AU 16 56966032 56966032 single base substitution G A 5_prime_UTR_variant MELA-AU 16 56966032 56966032 single base substitution G A upstream_gene_variant MELA-AU 16 56967110 56967110 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 56967110 56967110 single base substitution A G intron_variant MELA-AU 16 56967110 56967110 single base substitution A G upstream_gene_variant MELA-AU 16 56967965 56967965 single base substitution T C intron_variant MELA-AU 16 56967965 56967965 single base substitution T C upstream_gene_variant MELA-AU 16 56968203 56968203 single base substitution C T intron_variant MELA-AU 16 56968203 56968203 single base substitution C T upstream_gene_variant MELA-AU 16 56969720 56969720 single base substitution C T downstream_gene_variant MELA-AU 16 56969720 56969720 single base substitution C T intron_variant MELA-AU 16 56969720 56969720 single base substitution C T upstream_gene_variant MELA-AU 16 56970003 56970003 single base substitution C T downstream_gene_variant MELA-AU 16 56970003 56970003 single base substitution C T exon_variant MELA-AU 16 56970003 56970003 single base substitution C T intron_variant MELA-AU 16 56970003 56970003 single base substitution C T upstream_gene_variant MELA-AU 16 56970054 56970054 single base substitution T C downstream_gene_variant MELA-AU 16 56970054 56970054 single base substitution T C exon_variant MELA-AU 16 56970054 56970054 single base substitution T C intron_variant MELA-AU 16 56970054 56970054 single base substitution T C upstream_gene_variant MELA-AU 16 56971319 56971319 single base substitution C T downstream_gene_variant MELA-AU 16 56971319 56971319 single base substitution C T exon_variant MELA-AU 16 56971319 56971319 single base substitution C T intron_variant MELA-AU 16 56971319 56971319 single base substitution C T upstream_gene_variant MELA-AU 16 56971537 56971537 single base substitution T A downstream_gene_variant MELA-AU 16 56971537 56971537 single base substitution T A intron_variant MELA-AU 16 56971537 56971537 single base substitution T A upstream_gene_variant MELA-AU 16 56971694 56971694 single base substitution C G downstream_gene_variant MELA-AU 16 56971694 56971694 single base substitution C G intron_variant MELA-AU 16 56971694 56971694 single base substitution C G upstream_gene_variant MELA-AU 16 56972022 56972022 single base substitution G A downstream_gene_variant MELA-AU 16 56972022 56972022 single base substitution G A intron_variant MELA-AU 16 56972022 56972022 single base substitution G A upstream_gene_variant MELA-AU 16 56972215 56972215 single base substitution C T downstream_gene_variant MELA-AU 16 56972215 56972215 single base substitution C T intron_variant MELA-AU 16 56972215 56972215 single base substitution C T upstream_gene_variant MELA-AU 16 56972572 56972572 single base substitution C T downstream_gene_variant MELA-AU 16 56972572 56972572 single base substitution C T intron_variant MELA-AU 16 56972572 56972572 single base substitution C T upstream_gene_variant MELA-AU 16 56972683 56972683 single base substitution C T downstream_gene_variant MELA-AU 16 56972683 56972683 single base substitution C T intron_variant MELA-AU 16 56972683 56972683 single base substitution C T upstream_gene_variant MELA-AU 16 56972821 56972821 single base substitution T G downstream_gene_variant MELA-AU 16 56972821 56972821 single base substitution T G intron_variant MELA-AU 16 56972821 56972821 single base substitution T G upstream_gene_variant MELA-AU 16 56973041 56973041 single base substitution C T downstream_gene_variant MELA-AU 16 56973041 56973041 single base substitution C T intron_variant MELA-AU 16 56973041 56973041 single base substitution C T upstream_gene_variant MELA-AU 16 56973187 56973187 single base substitution C T 3_prime_UTR_variant MELA-AU 16 56973187 56973187 single base substitution C T downstream_gene_variant MELA-AU 16 56973187 56973187 single base substitution C T exon_variant MELA-AU 16 56973187 56973187 single base substitution C T intron_variant MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P115L 344C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P132L 395C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P156L 467C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P157L 470C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P81L 242C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P90L 269C>T MELA-AU 16 56973187 56973187 single base substitution C T missense_variant P9L 26C>T MELA-AU 16 56973187 56973187 single base substitution C T upstream_gene_variant MELA-AU 16 56973259 56973259 single base substitution A T 3_prime_UTR_variant MELA-AU 16 56973259 56973259 single base substitution A T downstream_gene_variant MELA-AU 16 56973259 56973259 single base substitution A T exon_variant MELA-AU 16 56973259 56973259 single base substitution A T intron_variant MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y105F 314A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y114F 341A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y139F 416A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y156F 467A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y180F 539A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y181F 542A>T MELA-AU 16 56973259 56973259 single base substitution A T missense_variant Y33F 98A>T MELA-AU 16 56973259 56973259 single base substitution A T upstream_gene_variant MELA-AU 16 56973833 56973833 single base substitution C T 3_prime_UTR_variant MELA-AU 16 56973833 56973833 single base substitution C T downstream_gene_variant MELA-AU 16 56973833 56973833 single base substitution C T exon_variant MELA-AU 16 56973833 56973833 single base substitution C T intron_variant MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A127V 380C>T MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A152V 455C>T MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A169V 506C>T MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A193V 578C>T MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A194V 581C>T MELA-AU 16 56973833 56973833 single base substitution C T missense_variant A40V 119C>T MELA-AU 16 56973833 56973833 single base substitution C T upstream_gene_variant MELA-AU 16 56973987 56973987 single base substitution G A downstream_gene_variant MELA-AU 16 56973987 56973987 single base substitution G A exon_variant MELA-AU 16 56973987 56973987 single base substitution G A intron_variant MELA-AU 16 56973987 56973987 single base substitution G A synonymous_variant R220R 660G>A MELA-AU 16 56973987 56973987 single base substitution G A synonymous_variant R244R 732G>A MELA-AU 16 56973987 56973987 single base substitution G A synonymous_variant R245R 735G>A MELA-AU 16 56973987 56973987 single base substitution G A synonymous_variant R91R 273G>A MELA-AU 16 56973987 56973987 single base substitution G A upstream_gene_variant MELA-AU 16 56974622 56974622 single base substitution C T downstream_gene_variant MELA-AU 16 56974622 56974622 single base substitution C T intron_variant MELA-AU 16 56974622 56974622 single base substitution C T upstream_gene_variant MELA-AU 16 56974705 56974705 single base substitution C T downstream_gene_variant MELA-AU 16 56974705 56974705 single base substitution C T intron_variant MELA-AU 16 56974705 56974705 single base substitution C T upstream_gene_variant MELA-AU 16 56974746 56974746 single base substitution G A downstream_gene_variant MELA-AU 16 56974746 56974746 single base substitution G A intron_variant MELA-AU 16 56974746 56974746 single base substitution G A upstream_gene_variant MELA-AU 16 56974910 56974910 single base substitution C T downstream_gene_variant MELA-AU 16 56974910 56974910 single base substitution C T intron_variant MELA-AU 16 56974910 56974910 single base substitution C T upstream_gene_variant MELA-AU 16 56976036 56976036 single base substitution C T downstream_gene_variant MELA-AU 16 56976036 56976036 single base substitution C T exon_variant MELA-AU 16 56976036 56976036 single base substitution C T intron_variant MELA-AU 16 56976036 56976036 single base substitution C T splice_region_variant MELA-AU 16 56976241 56976241 single base substitution C T downstream_gene_variant MELA-AU 16 56976241 56976241 single base substitution C T intron_variant MELA-AU 16 56976252 56976252 single base substitution G A downstream_gene_variant MELA-AU 16 56976252 56976252 single base substitution G A intron_variant MELA-AU 16 56976281 56976281 single base substitution C T downstream_gene_variant MELA-AU 16 56976281 56976281 single base substitution C T intron_variant MELA-AU 16 56976357 56976357 single base substitution T C downstream_gene_variant MELA-AU 16 56976357 56976357 single base substitution T C intron_variant MELA-AU 16 56976458 56976458 single base substitution T C downstream_gene_variant MELA-AU 16 56976458 56976458 single base substitution T C intron_variant MELA-AU 16 56976515 56976515 single base substitution C T downstream_gene_variant MELA-AU 16 56976515 56976515 single base substitution C T intron_variant MELA-AU 16 56978328 56978328 single base substitution C T downstream_gene_variant MELA-AU 16 56978955 56978955 single base substitution C T downstream_gene_variant MELA-AU 16 56979293 56979293 single base substitution C T downstream_gene_variant MELA-AU 16 56979458 56979458 single base substitution T C downstream_gene_variant MELA-AU 16 56979498 56979498 single base substitution C T downstream_gene_variant MELA-AU 16 56980186 56980187 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 56980676 56980676 single base substitution T A downstream_gene_variant MELA-AU 16 56980850 56980850 single base substitution G A downstream_gene_variant MELA-AU 16 56981107 56981107 single base substitution C T downstream_gene_variant MELA-AU 16 56981444 56981444 single base substitution C T downstream_gene_variant MELA-AU 16 56981772 56981772 single base substitution C T downstream_gene_variant MELA-AU 16 56981972 56981972 single base substitution C T downstream_gene_variant MELA-AU 16 56982002 56982004 deletion of <=200bp TTC - downstream_gene_variant MELA-AU 16 56982712 56982712 single base substitution C T downstream_gene_variant OV-AU 16 56965347 56965347 single base substitution G C upstream_gene_variant OV-AU 16 56971537 56971537 single base substitution T A downstream_gene_variant OV-AU 16 56971537 56971537 single base substitution T A intron_variant OV-AU 16 56971537 56971537 single base substitution T A upstream_gene_variant OV-AU 16 56971640 56971640 single base substitution G A downstream_gene_variant OV-AU 16 56971640 56971640 single base substitution G A intron_variant OV-AU 16 56971640 56971640 single base substitution G A upstream_gene_variant OV-AU 16 56972902 56972902 single base substitution C T downstream_gene_variant OV-AU 16 56972902 56972902 single base substitution C T intron_variant OV-AU 16 56972902 56972902 single base substitution C T upstream_gene_variant OV-AU 16 56977644 56977644 single base substitution G A 3_prime_UTR_variant OV-AU 16 56977644 56977644 single base substitution G A downstream_gene_variant OV-AU 16 56977644 56977644 single base substitution G A exon_variant OV-AU 16 56981401 56981401 single base substitution C T downstream_gene_variant PACA-AU 16 56962582 56962582 deletion of <=200bp G - upstream_gene_variant PACA-AU 16 56964539 56964539 single base substitution G C upstream_gene_variant PACA-AU 16 56969735 56969735 single base substitution T C downstream_gene_variant PACA-AU 16 56969735 56969735 single base substitution T C intron_variant PACA-AU 16 56969735 56969735 single base substitution T C upstream_gene_variant PACA-AU 16 56976592 56976592 single base substitution C T downstream_gene_variant PACA-AU 16 56976592 56976592 single base substitution C T intron_variant PACA-AU 16 56978032 56978032 single base substitution G C downstream_gene_variant PACA-CA 16 56961268 56961268 single base substitution C A upstream_gene_variant PACA-CA 16 56962113 56962113 single base substitution C T upstream_gene_variant PACA-CA 16 56974209 56974209 single base substitution A G downstream_gene_variant PACA-CA 16 56974209 56974209 single base substitution A G intron_variant PACA-CA 16 56974209 56974209 single base substitution A G upstream_gene_variant PACA-CA 16 56977588 56977588 single base substitution T A 3_prime_UTR_variant PACA-CA 16 56977588 56977588 single base substitution T A downstream_gene_variant PACA-CA 16 56977588 56977588 single base substitution T A exon_variant PACA-CA 16 56979445 56979445 single base substitution G C downstream_gene_variant PACA-CA 16 56980381 56980384 deletion of <=200bp TTAT - downstream_gene_variant PACA-CA 16 56981331 56981331 single base substitution G T downstream_gene_variant PBCA-DE 16 56964143 56964143 single base substitution G T upstream_gene_variant PBCA-DE 16 56974471 56974471 single base substitution G T downstream_gene_variant PBCA-DE 16 56974471 56974471 single base substitution G T intron_variant PBCA-DE 16 56974471 56974471 single base substitution G T upstream_gene_variant PBCA-DE 16 56980913 56980915 deletion of <=200bp GCA - downstream_gene_variant PRAD-CA 16 56961906 56961906 single base substitution C G upstream_gene_variant PRAD-CA 16 56967064 56967064 single base substitution T G intron_variant PRAD-CA 16 56967064 56967064 single base substitution T G upstream_gene_variant PRAD-UK 16 56962780 56962780 single base substitution G A upstream_gene_variant PRAD-UK 16 56963980 56963980 single base substitution C A upstream_gene_variant PRAD-UK 16 56965721 56965721 single base substitution C T upstream_gene_variant PRAD-UK 16 56969851 56969851 single base substitution A T downstream_gene_variant PRAD-UK 16 56969851 56969851 single base substitution A T intron_variant PRAD-UK 16 56969851 56969851 single base substitution A T upstream_gene_variant PRAD-UK 16 56979186 56979186 single base substitution C A downstream_gene_variant PRAD-US 16 56976046 56976046 single base substitution A G downstream_gene_variant PRAD-US 16 56976046 56976046 single base substitution A G exon_variant PRAD-US 16 56976046 56976046 single base substitution A G intron_variant PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H144R 431A>G PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H149R 446A>G PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H278R 833A>G PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H302R 905A>G PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H303R 908A>G PRAD-US 16 56976046 56976046 single base substitution A G missense_variant H61R 182A>G PRAD-US 16 56976046 56976046 single base substitution A G splice_region_variant RECA-EU 16 56972342 56972342 single base substitution G A downstream_gene_variant RECA-EU 16 56972342 56972342 single base substitution G A intron_variant RECA-EU 16 56972342 56972342 single base substitution G A upstream_gene_variant RECA-EU 16 56973548 56973548 single base substitution G A downstream_gene_variant RECA-EU 16 56973548 56973548 single base substitution G A intron_variant RECA-EU 16 56973548 56973548 single base substitution G A upstream_gene_variant SKCA-BR 16 56962627 56962627 single base substitution G A upstream_gene_variant SKCA-BR 16 56962927 56962927 single base substitution A T upstream_gene_variant SKCA-BR 16 56963435 56963435 single base substitution T G upstream_gene_variant SKCA-BR 16 56964942 56964942 single base substitution G A upstream_gene_variant SKCA-BR 16 56966008 56966008 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 56966008 56966008 single base substitution G A upstream_gene_variant SKCA-BR 16 56971859 56971859 single base substitution A G downstream_gene_variant SKCA-BR 16 56971859 56971859 single base substitution A G intron_variant SKCA-BR 16 56971859 56971859 single base substitution A G upstream_gene_variant SKCA-BR 16 56975207 56975207 single base substitution C T downstream_gene_variant SKCA-BR 16 56975207 56975207 single base substitution C T intron_variant SKCA-BR 16 56975207 56975207 single base substitution C T upstream_gene_variant SKCA-BR 16 56975775 56975775 insertion of <=200bp - TATA downstream_gene_variant SKCA-BR 16 56975775 56975775 insertion of <=200bp - TATA intron_variant SKCA-BR 16 56975775 56975775 insertion of <=200bp - TATA upstream_gene_variant SKCA-BR 16 56978602 56978602 single base substitution A C downstream_gene_variant SKCA-BR 16 56982549 56982549 single base substitution C T downstream_gene_variant SKCA-BR 16 56982769 56982769 single base substitution C T downstream_gene_variant SKCM-US 16 56973251 56973251 single base substitution A T 3_prime_UTR_variant SKCM-US 16 56973251 56973251 single base substitution A T downstream_gene_variant SKCM-US 16 56973251 56973251 single base substitution A T exon_variant SKCM-US 16 56973251 56973251 single base substitution A T intron_variant SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A102A 306A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A111A 333A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A136A 408A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A153A 459A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A177A 531A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A178A 534A>T SKCM-US 16 56973251 56973251 single base substitution A T synonymous_variant A30A 90A>T SKCM-US 16 56973251 56973251 single base substitution A T upstream_gene_variant SKCM-US 16 56976078 56976078 single base substitution C T downstream_gene_variant SKCM-US 16 56976078 56976078 single base substitution C T exon_variant SKCM-US 16 56976078 56976078 single base substitution C T intron_variant SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P155S 463C>T SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P160S 478C>T SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P289S 865C>T SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P313S 937C>T SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P314S 940C>T SKCM-US 16 56976078 56976078 single base substitution C T missense_variant P72S 214C>T SKCM-US 16 56976092 56976092 single base substitution C T downstream_gene_variant SKCM-US 16 56976092 56976092 single base substitution C T exon_variant SKCM-US 16 56976092 56976092 single base substitution C T intron_variant SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F159F 477C>T SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F164F 492C>T SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F293F 879C>T SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F317F 951C>T SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F318F 954C>T SKCM-US 16 56976092 56976092 single base substitution C T synonymous_variant F76F 228C>T SKCM-US 16 56977170 56977170 single base substitution C T 3_prime_UTR_variant SKCM-US 16 56977170 56977170 single base substitution C T downstream_gene_variant SKCM-US 16 56977170 56977170 single base substitution C T exon_variant SKCM-US 16 56977170 56977170 single base substitution C T intron_variant SKCM-US 16 56977170 56977170 single base substitution C T missense_variant L140F 418C>T SKCM-US 16 56977170 56977170 single base substitution C T missense_variant L223F 667C>T SKCM-US 16 56977170 56977170 single base substitution C T missense_variant L357F 1069C>T SKCM-US 16 56977170 56977170 single base substitution C T missense_variant L381F 1141C>T SKCM-US 16 56977170 56977170 single base substitution C T missense_variant L382F 1144C>T SKCM-US 16 56977182 56977182 single base substitution C T 3_prime_UTR_variant SKCM-US 16 56977182 56977182 single base substitution C T downstream_gene_variant SKCM-US 16 56977182 56977182 single base substitution C T exon_variant SKCM-US 16 56977182 56977182 single base substitution C T missense_variant P144S 430C>T SKCM-US 16 56977182 56977182 single base substitution C T missense_variant P227S 679C>T SKCM-US 16 56977182 56977182 single base substitution C T missense_variant P361S 1081C>T SKCM-US 16 56977182 56977182 single base substitution C T missense_variant P385S 1153C>T SKCM-US 16 56977182 56977182 single base substitution C T missense_variant P386S 1156C>T SKCM-US 16 56977182 56977182 single base substitution C T synonymous_variant A185A 555C>T STAD-US 16 56966259 56966259 single base substitution G A exon_variant STAD-US 16 56966259 56966259 single base substitution G A missense_variant G35S 103G>A STAD-US 16 56966259 56966259 single base substitution G A upstream_gene_variant STAD-US 16 56969317 56969317 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 16 56969317 56969317 deletion of <=200bp A - exon_variant STAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E1 STAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E35 STAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E76 STAD-US 16 56969317 56969317 deletion of <=200bp A - frameshift_variant E77 STAD-US 16 56969317 56969317 deletion of <=200bp A - intron_variant STAD-US 16 56969317 56969317 deletion of <=200bp A - upstream_gene_variant STAD-US 16 56974002 56974002 single base substitution T C downstream_gene_variant STAD-US 16 56974002 56974002 single base substitution T C exon_variant STAD-US 16 56974002 56974002 single base substitution T C intron_variant STAD-US 16 56974002 56974002 single base substitution T C splice_donor_variant STAD-US 16 56974002 56974002 single base substitution T C synonymous_variant G225G 675T>C STAD-US 16 56974002 56974002 single base substitution T C synonymous_variant G249G 747T>C STAD-US 16 56974002 56974002 single base substitution T C synonymous_variant G250G 750T>C STAD-US 16 56974002 56974002 single base substitution T C synonymous_variant G96G 288T>C STAD-US 16 56974002 56974002 single base substitution T C upstream_gene_variant UCEC-US 16 56973820 56973820 single base substitution G T 3_prime_UTR_variant UCEC-US 16 56973820 56973820 single base substitution G T downstream_gene_variant UCEC-US 16 56973820 56973820 single base substitution G T exon_variant UCEC-US 16 56973820 56973820 single base substitution G T intron_variant UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A123S 367G>T UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A148S 442G>T UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A165S 493G>T UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A189S 565G>T UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A190S 568G>T UCEC-US 16 56973820 56973820 single base substitution G T missense_variant A36S 106G>T UCEC-US 16 56973820 56973820 single base substitution G T upstream_gene_variant UCEC-US 16 56973994 56973994 single base substitution G A downstream_gene_variant UCEC-US 16 56973994 56973994 single base substitution G A exon_variant UCEC-US 16 56973994 56973994 single base substitution G A intron_variant UCEC-US 16 56973994 56973994 single base substitution G A missense_variant A223T 667G>A UCEC-US 16 56973994 56973994 single base substitution G A missense_variant A247T 739G>A UCEC-US 16 56973994 56973994 single base substitution G A missense_variant A248T 742G>A UCEC-US 16 56973994 56973994 single base substitution G A missense_variant A94T 280G>A UCEC-US 16 56973994 56973994 single base substitution G A upstream_gene_variant UCEC-US 16 56976050 56976050 single base substitution C T downstream_gene_variant UCEC-US 16 56976050 56976050 single base substitution C T exon_variant UCEC-US 16 56976050 56976050 single base substitution C T intron_variant UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H145H 435C>T UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H150H 450C>T UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H279H 837C>T UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H303H 909C>T UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H304H 912C>T UCEC-US 16 56976050 56976050 single base substitution C T synonymous_variant H62H 186C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BG-A0M4-01 COSM971748 c.910G>A p.V304I Substitution - Missense 16:56942139-56942139 + SNU-C4 COSM4652758 c.623C>T p.A208V Substitution - Missense 16:56939966-56939966 + B54 COSM1749657 c.433G>C p.E145Q Substitution - Missense 16:56939241-56939241 + SNUH_G15_S1 COSM3679927 c.1144C>T p.P382S Substitution - Missense 16:56943261-56943261 + 587292 COSM1209606 c.578C>G p.A193G Substitution - Missense 16:56939921-56939921 + YUNEKI COSM5385031 c.572C>T p.S191L Substitution - Missense 16:56939915-56939915 + I2L-P18-Tumor-Organoid COSM5363199 c.250_258delGTGTGCAAT p.C85_V87delCNV Deletion - In frame 16:56935428-56935436 + RKO COSM2836095 c.686C>T p.A229V Substitution - Missense 16:56940029-56940029 + TCGA-EK-A2R8-01 COSM4822668 c.111C>G p.L37L Substitution - coding silent 16:56932355-56932355 + BCM423T COSM4802563 c.693T>A p.P231P Substitution - coding silent 16:56940036-56940036 + ORL-48 COSM4596864 c.335G>A p.R112Q Substitution - Missense 16:56936724-56936724 + BCM423T COSM4802563 c.693T>A p.P231P Substitution - coding silent 16:56940036-56940036 + PT08_2 COSM3679927 c.1144C>T p.P382S Substitution - Missense 16:56943261-56943261 + HT115 COSM2836105 c.1165G>A p.A389T Substitution - Missense 16:56943282-56943282 + B54-Tumor COSM1749657 c.433G>C p.E145Q Substitution - Missense 16:56939241-56939241 + TCGA-CH-5772-01 COSM1128923 c.905A>G p.H302R Substitution - Missense 16:56942134-56942134 + HCC71T COSM1609437 c.345T>G p.Y115* Substitution - Nonsense 16:56936734-56936734 + 9227_T COSM5040187 c.935G>A p.R312K Substitution - Missense 16:56942164-56942164 + TCGA-FS-A1ZK-06 COSM3510416 c.531A>T p.A177A Substitution - coding silent 16:56939339-56939339 + ESCC_32 COSM5649687 c.1008+1G>C p.? Unknown 16:56942238-56942238 + TCGA-AA-3815-01 COSM1378500 c.444G>A p.Q148Q Substitution - coding silent 16:56939252-56939252 + TCGA-BR-7707-01 COSM4061359 c.103G>A p.G35S Substitution - Missense 16:56932347-56932347 + ACINAR25 COSM1734921 c.586_588delCCA p.P198delP Deletion - In frame 16:56939929-56939931 + pfg064T COSM4755908 c.458G>T p.G153V Substitution - Missense 16:56939266-56939266 + TCGA-AP-A0LM-01 COSM971744 c.739G>A p.A247T Substitution - Missense 16:56940082-56940082 + HCC107 COSM971746 c.909C>T p.H303H Substitution - coding silent 16:56942138-56942138 + TCGA-BP-5176-01 COSM471851 c.896T>C p.M299T Substitution - Missense 16:56940239-56940239 + TCGA-A6-6652-01 COSM1378501 c.851delC p.S285fs*2 Deletion - Frameshift 16:56940194-56940194 + LUAD-S01315 COSM385661 c.1058G>T p.R353M Substitution - Missense 16:56943175-56943175 + TCGA-AP-A059-01 COSM971746 c.909C>T p.H303H Substitution - coding silent 16:56942138-56942138 + TCGA-DK-A3WW-01 COSM3794930 c.329C>G p.S110C Substitution - Missense 16:56936718-56936718 + TCGA-BR-6452-01 COSM4061360 c.747T>C p.G249G Substitution - coding silent 16:56940090-56940090 + TCGA-F4-6570-01 COSM1378499 c.227delA p.K77fs*11 Deletion - Frameshift 16:56935405-56935405 + PT48 COSM5933450 c.902+8G>A p.? Unknown 16:56940253-56940253 + HCC92 COSM3716960 c.226-6T>C p.? Unknown 16:56935398-56935398 + TCGA-06-0192-01 COSM1378500 c.444G>A p.Q148Q Substitution - coding silent 16:56939252-56939252 + TCGA-B5-A0JZ-01 COSM971750 c.1156C>T p.P386S Substitution - Missense 16:56943273-56943273 + TCGA-G4-6628-01 COSM2836085 c.291C>T p.N97N Substitution - coding silent 16:56935469-56935469 + HDC101 COSM4635944 c.606G>A p.E202E Substitution - coding silent 16:56939949-56939949 + 2492729 COSM5725679 c.900C>G p.Y300* Substitution - Nonsense 16:56940243-56940243 + TCGA-A3-3316-01 COSM1493658 c.180G>A p.G60G Substitution - coding silent 16:56935267-56935267 + HCC159 COSM3716959 c.179G>T p.G60V Substitution - Missense 16:56935266-56935266 + PT08_1 COSM3679927 c.1144C>T p.P382S Substitution - Missense 16:56943261-56943261 + TCGA-EE-A29V-06 COSM3510418 c.951C>T p.F317F Substitution - coding silent 16:56942180-56942180 + TCGA-AM-5820-01 COSM148083 c.149G>A p.R50H Substitution - Missense 16:56935236-56935236 + ATL059 COSM5706147 c.73G>C p.E25Q Substitution - Missense 16:56932317-56932317 + KM12 COSM2836100 c.932C>T p.P311L Substitution - Missense 16:56942161-56942161 + RK082_C01 COSM1629934 c.779A>G p.N260S Substitution - Missense 16:56940122-56940122 + TCGA-76-4935-01 COSM3402379 c.342G>C p.Q114H Substitution - Missense 16:56936731-56936731 + TCGA-AA-3715-01 COSM269308 c.883G>A p.A295T Substitution - Missense 16:56940226-56940226 + TCGA-A6-2672-01 COSM5081702 c.963_965delTCC p.P324delP Deletion - In frame 16:56942192-56942194 + ccRCC-38 COSM1662128 c.322G>T p.A108S Substitution - Missense 16:56936711-56936711 + BK0031 COSM4186899 c.725A>T p.N242I Substitution - Missense 16:56940068-56940068 + TCGA-BQ-5887-01 COSM3988538 c.899A>G p.Y300C Substitution - Missense 16:56940242-56940242 + T16 COSM5342799 c.60C>T p.R20R Substitution - coding silent 16:56932304-56932304 + TCGA-18-4083-01 COSM703367 c.1048C>T p.P350S Substitution - Missense 16:56943165-56943165 + TCGA-C5-A2LX-01 COSM4827408 c.913G>T p.G305W Substitution - Missense 16:56942142-56942142 + T38 COSM5342800 c.689C>T p.A230V Substitution - Missense 16:56940032-56940032 + 2492728 COSM5725679 c.900C>G p.Y300* Substitution - Nonsense 16:56940243-56940243 + TCGA-BF-A1PV-01 COSM3510419 c.1153C>T p.P385S Substitution - Missense 16:56943270-56943270 + LUAD-YINHD COSM349210 c.1059G>T p.R353S Substitution - Missense 16:56943176-56943176 + GC8_T COSM148083 c.149G>A p.R50H Substitution - Missense 16:56935236-56935236 + TCGA-EE-A2MR-06 COSM3888676 c.1141C>T p.L381F Substitution - Missense 16:56943258-56943258 + TCGA-EK-A2R8-01 COSM4822695 c.36C>G p.L12L Substitution - coding silent 16:56932280-56932280 + LS411 COSM2836104 c.1109G>A p.W370* Substitution - Nonsense 16:56943226-56943226 + HCC71 COSM1609437 c.345T>G p.Y115* Substitution - Nonsense 16:56936734-56936734 + T3503 COSM4690159 c.428+1G>A p.? Unknown 16:56936818-56936818 + 61 COSM5740658 c.197A>G p.H66R Substitution - Missense 16:56935284-56935284 + NCHP_DIPG081 COSM4746134 c.595A>G p.S199G Substitution - Missense 16:56939938-56939938 + HCC92T COSM3716960 c.226-6T>C p.? Unknown 16:56935398-56935398 + MO_1232 COSM5556569 c.120C>A p.H40Q Substitution - Missense 16:56932364-56932364 + CLL004 COSM971748 c.910G>A p.V304I Substitution - Missense 16:56942139-56942139 + HCC107T COSM971746 c.909C>T p.H303H Substitution - coding silent 16:56942138-56942138 + 1_RESISTANT COSM1719055 c.1142T>A p.L381H Substitution - Missense 16:56943259-56943259 + 1_PRE-TREATMENT COSM1719055 c.1142T>A p.L381H Substitution - Missense 16:56943259-56943259 + CSCC-44-T COSM4505494 c.691C>A p.P231T Substitution - Missense 16:56940034-56940034 + HT115 COSM2836097 c.781C>T p.R261* Substitution - Nonsense 16:56940124-56940124 + HCC159T COSM3716959 c.179G>T p.G60V Substitution - Missense 16:56935266-56935266 + TCGA-B5-A11H-01 COSM971742 c.565G>T p.A189S Substitution - Missense 16:56939908-56939908 + TCGA-GN-A266-06 COSM3510417 c.937C>T p.P313S Substitution - Missense 16:56942166-56942166 + CSCC-62-T COSM4514406 c.970C>T p.P324S Substitution - Missense 16:56942199-56942199 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.146393 16q13 608070 2487611|CGAP|BC000086|A/G|coding|Arg50His|238|Validated; 2487611|CGAP|BC008320|A/G|coding|Arg50His|237|Validated; 2487611|CGAP|BC009739|A/G|coding|Arg50His|246|Validated; 2487611|CGAP|BC032673|A/G|coding|Arg50His|245|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.905+801A>G 16 56974958 HC A G Missense p.H303R c.908A>G 16 56976046 PRAD A T Missense p.N237I c.710A>T 16 56973962 HNSC A T Synonymous p.A178A c.534A>T 16 56973251 CM C G Missense p.L381V c.1141C>G 16 56977167 HNSC C T 5-UTRSNV . c.1-5C>T 16 56966152 ESCA C T Missense p.L278F c.832C>T 16 56974084 HNSC C T Missense p.P351S c.1051C>T 16 56977077 LUSC C T Missense p.P386S c.1156C>T 16 56977182 CM C T Synonymous p.F318F c.954C>T 16 56976092 CM C T Synonymous p.L69L c.207C>T 16 56969206 CM G A Missense p.V305I c.913G>A 16 56976051 CLL G A Synonymous p.Q149Q c.447G>A 16 56973164 GBM G C Missense p.Q115H c.345G>C 16 56970643 GBM G T IntronicSNV . c.906-442G>T 16 56975602 HC G T Missense p.A190S c.568G>T 16 56973820 UCEC T C Missense p.M300T c.899T>C 16 56974151 RCCC