Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 202985162 202985162 + Missense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr1:202985162C>A c.602C>A c.(601-603)gCt>gAt p.A201D CESC 1 202985216 202985216 + Missense_Mutation SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:202985216C>T c.656C>T c.(655-657)tCc>tTc p.S219F COAD 1 202977854 202977854 + Missense_Mutation SNP G G T TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr1:202977854G>T c.283G>T c.(283-285)Gac>Tac p.D95Y COAD 1 202977894 202977894 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:202977894A>G c.323A>G c.(322-324)cAt>cGt p.H108R COAD 1 202985120 202985120 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:202985120G>A c.560G>A c.(559-561)cGt>cAt p.R187H COAD 1 202985237 202985237 + Missense_Mutation SNP A A G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr1:202985237A>G c.677A>G c.(676-678)gAa>gGa p.E226G COAD 1 202985259 202985259 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:202985259G>T c.699G>T c.(697-699)aaG>aaT p.K233N COADREAD 1 202977854 202977854 + Missense_Mutation SNP G G T TCGA-CM-6167-01A-11D-1650-10 TCGA-CM-6167-10A-01D-1650-10 g.chr1:202977854G>T c.283G>T c.(283-285)Gac>Tac p.D95Y COADREAD 1 202977894 202977894 + Missense_Mutation SNP A A G TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:202977894A>G c.323A>G c.(322-324)cAt>cGt p.H108R COADREAD 1 202985120 202985120 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:202985120G>A c.560G>A c.(559-561)cGt>cAt p.R187H COADREAD 1 202985237 202985237 + Missense_Mutation SNP A A G TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr1:202985237A>G c.677A>G c.(676-678)gAa>gGa p.E226G COADREAD 1 202985259 202985259 + Missense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:202985259G>T c.699G>T c.(697-699)aaG>aaT p.K233N GBMLGG 1 202992124 202992125 + Frame_Shift_Del DEL TT TT - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr1:202992124_202992125delTT c.1087_1088delTT c.(1087-1089)tttfs p.F363fs HNSC 1 202977833 202977833 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 g.chr1:202977833G>A c.262G>A c.(262-264)Ggt>Agt p.G88S HNSC 1 202984173 202984173 + Missense_Mutation SNP G G A TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr1:202984173G>A c.524G>A c.(523-525)cGa>cAa p.R175Q HNSC 1 202992016 202992016 + Missense_Mutation SNP C C T TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr1:202992016C>T c.979C>T c.(979-981)Cat>Tat p.H327Y LGG 1 202992124 202992125 + Frame_Shift_Del DEL TT TT - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr1:202992124_202992125delTT c.1087_1088delTT c.(1087-1089)tttfs p.F363fs LIHC 1 202987649 202987649 + Missense_Mutation SNP A A C TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr1:202987649A>C c.749A>C c.(748-750)cAg>cCg p.Q250P PRAD 1 202984027 202984027 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:202984027C>T c.378C>T c.(376-378)gaC>gaT p.D126D SARC 1 202984051 202984051 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr1:202984051C>T c.402C>T c.(400-402)ccC>ccT p.P134P SKCM 1 202984110 202984110 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr1:202984110C>T c.461C>T c.(460-462)tCc>tTc p.S154F SKCM 1 202987674 202987674 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:202987674C>T c.774C>T c.(772-774)ttC>ttT p.F258F SKCM 1 202991991 202991991 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:202991991C>T c.954C>T c.(952-954)atC>atT p.I318I

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 1 202985222 202985222 single base substitution A T downstream_gene_variant BLCA-CN 1 202985222 202985222 single base substitution A T exon_variant BLCA-CN 1 202985222 202985222 single base substitution A T missense_variant N221I 662A>T BRCA-EU 1 202974382 202974382 single base substitution G C upstream_gene_variant BRCA-EU 1 202974721 202974721 single base substitution G C upstream_gene_variant BRCA-EU 1 202974790 202974790 single base substitution G A upstream_gene_variant BRCA-EU 1 202974823 202974823 single base substitution G T upstream_gene_variant BRCA-EU 1 202975108 202975108 single base substitution T C upstream_gene_variant BRCA-EU 1 202976340 202976340 single base substitution G C upstream_gene_variant BRCA-EU 1 202976425 202976425 single base substitution A T upstream_gene_variant BRCA-EU 1 202976694 202976694 single base substitution C T exon_variant BRCA-EU 1 202976694 202976694 single base substitution C T missense_variant S34F 101C>T BRCA-EU 1 202976694 202976694 single base substitution C T upstream_gene_variant BRCA-EU 1 202977146 202977146 single base substitution A G intron_variant BRCA-EU 1 202977146 202977146 single base substitution A G upstream_gene_variant BRCA-EU 1 202977599 202977600 deletion of <=200bp TG - intron_variant BRCA-EU 1 202977599 202977600 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 1 202977686 202977686 single base substitution G T intron_variant BRCA-EU 1 202977686 202977686 single base substitution G T upstream_gene_variant BRCA-EU 1 202977800 202977800 single base substitution C T exon_variant BRCA-EU 1 202977800 202977800 single base substitution C T stop_gained Q77* 229C>T BRCA-EU 1 202977800 202977800 single base substitution C T upstream_gene_variant BRCA-EU 1 202978473 202978477 deletion of <=200bp AATGG - intron_variant BRCA-EU 1 202979163 202979163 single base substitution G T intron_variant BRCA-EU 1 202980455 202980455 single base substitution A C intron_variant BRCA-EU 1 202980455 202980455 single base substitution A C upstream_gene_variant BRCA-EU 1 202980529 202980529 single base substitution T C intron_variant BRCA-EU 1 202980529 202980529 single base substitution T C upstream_gene_variant BRCA-EU 1 202981575 202981575 single base substitution C G intron_variant BRCA-EU 1 202981575 202981575 single base substitution C G upstream_gene_variant BRCA-EU 1 202982817 202982817 deletion of <=200bp T - intron_variant BRCA-EU 1 202982817 202982817 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 202984199 202984199 single base substitution C G exon_variant BRCA-EU 1 202984199 202984199 single base substitution C G intron_variant BRCA-EU 1 202984199 202984199 single base substitution C G upstream_gene_variant BRCA-EU 1 202985669 202985669 single base substitution C G downstream_gene_variant BRCA-EU 1 202985669 202985669 single base substitution C G intron_variant BRCA-EU 1 202986431 202986431 insertion of <=200bp - GG downstream_gene_variant BRCA-EU 1 202986431 202986431 insertion of <=200bp - GG intron_variant BRCA-EU 1 202987206 202987206 single base substitution C T downstream_gene_variant BRCA-EU 1 202987206 202987206 single base substitution C T intron_variant BRCA-EU 1 202987861 202987861 single base substitution G A downstream_gene_variant BRCA-EU 1 202987861 202987861 single base substitution G A intron_variant BRCA-EU 1 202989697 202989697 single base substitution C G downstream_gene_variant BRCA-EU 1 202989697 202989697 single base substitution C G intron_variant BRCA-EU 1 202989731 202989731 single base substitution C G downstream_gene_variant BRCA-EU 1 202989731 202989731 single base substitution C G intron_variant BRCA-EU 1 202989786 202989786 single base substitution A G downstream_gene_variant BRCA-EU 1 202989786 202989786 single base substitution A G intron_variant BRCA-EU 1 202991114 202991114 single base substitution C G downstream_gene_variant BRCA-EU 1 202991114 202991114 single base substitution C G intron_variant BRCA-EU 1 202991143 202991144 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 1 202991143 202991144 deletion of <=200bp CT - intron_variant BRCA-EU 1 202991205 202991205 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 202991205 202991205 insertion of <=200bp - T intron_variant BRCA-EU 1 202991764 202991764 single base substitution G C downstream_gene_variant BRCA-EU 1 202991764 202991764 single base substitution G C intron_variant BRCA-EU 1 202993039 202993039 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 202993039 202993039 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 202995436 202995436 single base substitution C G downstream_gene_variant BRCA-EU 1 202996495 202996495 single base substitution G A downstream_gene_variant BRCA-EU 1 202997028 202997028 single base substitution G C downstream_gene_variant BRCA-EU 1 202998743 202998743 single base substitution G C downstream_gene_variant BRCA-FR 1 202974721 202974721 single base substitution G C upstream_gene_variant BRCA-FR 1 202979163 202979163 single base substitution G T intron_variant BRCA-FR 1 202980455 202980455 single base substitution A C intron_variant BRCA-FR 1 202980455 202980455 single base substitution A C upstream_gene_variant BRCA-FR 1 202995436 202995436 single base substitution C G downstream_gene_variant BRCA-UK 1 202985669 202985669 single base substitution C G downstream_gene_variant BRCA-UK 1 202985669 202985669 single base substitution C G intron_variant BRCA-UK 1 202997423 202997423 single base substitution G T downstream_gene_variant BRCA-UK 1 202997424 202997424 single base substitution G T downstream_gene_variant CESC-US 1 202985216 202985216 single base substitution C T downstream_gene_variant CESC-US 1 202985216 202985216 single base substitution C T exon_variant CESC-US 1 202985216 202985216 single base substitution C T missense_variant S219F 656C>T CLLE-ES 1 202994843 202994843 single base substitution A T downstream_gene_variant COAD-US 1 202977894 202977894 single base substitution A G exon_variant COAD-US 1 202977894 202977894 single base substitution A G missense_variant H108R 323A>G COAD-US 1 202985120 202985120 single base substitution G A downstream_gene_variant COAD-US 1 202985120 202985120 single base substitution G A exon_variant COAD-US 1 202985120 202985120 single base substitution G A missense_variant R187H 560G>A COCA-CN 1 202977167 202977167 single base substitution G A intron_variant COCA-CN 1 202977167 202977167 single base substitution G A upstream_gene_variant COCA-CN 1 202985158 202985158 single base substitution C T downstream_gene_variant COCA-CN 1 202985158 202985158 single base substitution C T exon_variant COCA-CN 1 202985158 202985158 single base substitution C T missense_variant R200W 598C>T COCA-CN 1 202985220 202985220 single base substitution G T downstream_gene_variant COCA-CN 1 202985220 202985220 single base substitution G T exon_variant COCA-CN 1 202985220 202985220 single base substitution G T missense_variant K220N 660G>T COCA-CN 1 202991854 202991854 single base substitution G T downstream_gene_variant COCA-CN 1 202991854 202991854 single base substitution G T intron_variant COCA-CN 1 202991928 202991928 single base substitution C T downstream_gene_variant COCA-CN 1 202991928 202991928 single base substitution C T intron_variant COCA-CN 1 202991959 202991959 single base substitution A G downstream_gene_variant COCA-CN 1 202991959 202991959 single base substitution A G intron_variant ESAD-UK 1 202971836 202971836 single base substitution G A upstream_gene_variant ESAD-UK 1 202972692 202972692 single base substitution G A upstream_gene_variant ESAD-UK 1 202974273 202974273 single base substitution T C upstream_gene_variant ESAD-UK 1 202974641 202974641 single base substitution G A upstream_gene_variant ESAD-UK 1 202975163 202975163 single base substitution G A upstream_gene_variant ESAD-UK 1 202975677 202975677 single base substitution G A upstream_gene_variant ESAD-UK 1 202978042 202978042 single base substitution G A intron_variant ESAD-UK 1 202980115 202980115 single base substitution A G intron_variant ESAD-UK 1 202980115 202980115 single base substitution A G upstream_gene_variant ESAD-UK 1 202983066 202983066 single base substitution A G intron_variant ESAD-UK 1 202983066 202983066 single base substitution A G upstream_gene_variant ESAD-UK 1 202985159 202985159 single base substitution G A downstream_gene_variant ESAD-UK 1 202985159 202985159 single base substitution G A exon_variant ESAD-UK 1 202985159 202985159 single base substitution G A missense_variant R200Q 599G>A ESAD-UK 1 202987661 202987661 single base substitution G A downstream_gene_variant ESAD-UK 1 202987661 202987661 single base substitution G A exon_variant ESAD-UK 1 202987661 202987661 single base substitution G A stop_gained W254* 761G>A ESAD-UK 1 202990926 202990926 single base substitution G A downstream_gene_variant ESAD-UK 1 202990926 202990926 single base substitution G A intron_variant ESAD-UK 1 202991458 202991458 single base substitution C A downstream_gene_variant ESAD-UK 1 202991458 202991458 single base substitution C A intron_variant ESAD-UK 1 202992965 202992965 insertion of <=200bp - T 3_prime_UTR_variant ESAD-UK 1 202992965 202992965 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 202993608 202993608 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 1 202993608 202993608 insertion of <=200bp - A downstream_gene_variant ESAD-UK 1 202994506 202994510 deletion of <=200bp AAAGA - downstream_gene_variant ESAD-UK 1 202994564 202994564 single base substitution C T downstream_gene_variant ESAD-UK 1 202995013 202995013 single base substitution A T downstream_gene_variant ESAD-UK 1 202995937 202995937 single base substitution G A downstream_gene_variant ESAD-UK 1 202995938 202995938 single base substitution C T downstream_gene_variant ESAD-UK 1 202996184 202996184 single base substitution C T downstream_gene_variant ESAD-UK 1 202998482 202998482 single base substitution G A downstream_gene_variant LAML-KR 1 202990140 202990140 single base substitution A G downstream_gene_variant LAML-KR 1 202990140 202990140 single base substitution A G intron_variant LAML-KR 1 202990149 202990149 single base substitution G C downstream_gene_variant LAML-KR 1 202990149 202990149 single base substitution G C intron_variant LAML-KR 1 202991849 202991849 single base substitution T G downstream_gene_variant LAML-KR 1 202991849 202991849 single base substitution T G intron_variant LAML-KR 1 202992267 202992267 single base substitution A C 3_prime_UTR_variant LAML-KR 1 202992267 202992267 single base substitution A C downstream_gene_variant LIHC-US 1 202987649 202987649 single base substitution A C downstream_gene_variant LIHC-US 1 202987649 202987649 single base substitution A C exon_variant LIHC-US 1 202987649 202987649 single base substitution A C missense_variant Q250P 749A>C LINC-JP 1 202985358 202985358 single base substitution A G downstream_gene_variant LINC-JP 1 202985358 202985358 single base substitution A G intron_variant LINC-JP 1 202985405 202985424 deletion of <=200bp CTCAGAGATTTCACTTCTCC - downstream_gene_variant LINC-JP 1 202985405 202985424 deletion of <=200bp CTCAGAGATTTCACTTCTCC - intron_variant LINC-JP 1 202987533 202987533 single base substitution A G downstream_gene_variant LINC-JP 1 202987533 202987533 single base substitution A G intron_variant LINC-JP 1 202990370 202990370 single base substitution G A downstream_gene_variant LINC-JP 1 202990370 202990370 single base substitution G A intron_variant LINC-JP 1 202991055 202991055 single base substitution G A downstream_gene_variant LINC-JP 1 202991055 202991055 single base substitution G A intron_variant LINC-JP 1 202994451 202994451 single base substitution T C downstream_gene_variant LINC-JP 1 202995582 202995582 insertion of <=200bp - G downstream_gene_variant LIRI-JP 1 202971928 202971928 single base substitution G A upstream_gene_variant LIRI-JP 1 202972347 202972347 single base substitution A G upstream_gene_variant LIRI-JP 1 202973232 202973232 single base substitution G A upstream_gene_variant LIRI-JP 1 202976469 202976469 insertion of <=200bp - C upstream_gene_variant LIRI-JP 1 202977762 202977762 single base substitution T G intron_variant LIRI-JP 1 202977762 202977762 single base substitution T G upstream_gene_variant LIRI-JP 1 202978924 202978924 single base substitution A G intron_variant LIRI-JP 1 202980235 202980235 single base substitution A G intron_variant LIRI-JP 1 202980235 202980235 single base substitution A G upstream_gene_variant LIRI-JP 1 202981767 202981767 single base substitution T C intron_variant LIRI-JP 1 202981767 202981767 single base substitution T C upstream_gene_variant LIRI-JP 1 202983234 202983234 single base substitution A C intron_variant LIRI-JP 1 202983234 202983234 single base substitution A C upstream_gene_variant LIRI-JP 1 202983257 202983257 single base substitution A C intron_variant LIRI-JP 1 202983257 202983257 single base substitution A C upstream_gene_variant LIRI-JP 1 202984330 202984330 insertion of <=200bp - T exon_variant LIRI-JP 1 202984330 202984330 insertion of <=200bp - T intron_variant LIRI-JP 1 202984330 202984330 insertion of <=200bp - T upstream_gene_variant LIRI-JP 1 202985521 202985521 single base substitution A G downstream_gene_variant LIRI-JP 1 202985521 202985521 single base substitution A G intron_variant LIRI-JP 1 202991520 202991522 deletion of <=200bp CTC - downstream_gene_variant LIRI-JP 1 202991520 202991522 deletion of <=200bp CTC - intron_variant LIRI-JP 1 202992890 202992890 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 202992890 202992890 single base substitution C T downstream_gene_variant LIRI-JP 1 202993566 202993566 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 202993566 202993566 single base substitution C T downstream_gene_variant LIRI-JP 1 202993794 202993794 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 202993794 202993794 single base substitution A G downstream_gene_variant LIRI-JP 1 202996885 202996885 single base substitution G A downstream_gene_variant LIRI-JP 1 202997373 202997373 single base substitution T C downstream_gene_variant LIRI-JP 1 202998650 202998650 single base substitution C A downstream_gene_variant LUSC-KR 1 202971690 202971690 single base substitution G A upstream_gene_variant LUSC-KR 1 202974033 202974033 single base substitution C T upstream_gene_variant LUSC-KR 1 202982195 202982195 single base substitution G A intron_variant LUSC-KR 1 202982195 202982195 single base substitution G A upstream_gene_variant LUSC-KR 1 202986193 202986193 single base substitution C T downstream_gene_variant LUSC-KR 1 202986193 202986193 single base substitution C T intron_variant LUSC-KR 1 202995066 202995066 single base substitution C G downstream_gene_variant LUSC-KR 1 202995625 202995625 single base substitution G T downstream_gene_variant MALY-DE 1 202976157 202976157 single base substitution G C upstream_gene_variant MALY-DE 1 202982605 202982611 deletion of <=200bp AATGCTA - intron_variant MALY-DE 1 202982605 202982611 deletion of <=200bp AATGCTA - upstream_gene_variant MALY-DE 1 202985597 202985597 single base substitution C T downstream_gene_variant MALY-DE 1 202985597 202985597 single base substitution C T intron_variant MALY-DE 1 202991311 202991311 single base substitution C T downstream_gene_variant MALY-DE 1 202991311 202991311 single base substitution C T intron_variant MALY-DE 1 202997935 202997935 single base substitution G A downstream_gene_variant MELA-AU 1 202971541 202971541 single base substitution A T upstream_gene_variant MELA-AU 1 202971665 202971665 single base substitution G A upstream_gene_variant MELA-AU 1 202971957 202971958 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 202972104 202972104 single base substitution G A upstream_gene_variant MELA-AU 1 202972655 202972655 single base substitution T A upstream_gene_variant MELA-AU 1 202973259 202973259 single base substitution C T upstream_gene_variant MELA-AU 1 202973458 202973458 single base substitution C T upstream_gene_variant MELA-AU 1 202973516 202973516 single base substitution C T upstream_gene_variant MELA-AU 1 202973812 202973812 single base substitution G A upstream_gene_variant MELA-AU 1 202973876 202973876 single base substitution G A upstream_gene_variant MELA-AU 1 202973964 202973964 single base substitution C T upstream_gene_variant MELA-AU 1 202973987 202973987 single base substitution C T upstream_gene_variant MELA-AU 1 202974270 202974270 single base substitution G A upstream_gene_variant MELA-AU 1 202974440 202974440 single base substitution G A upstream_gene_variant MELA-AU 1 202974440 202974441 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 202974526 202974526 single base substitution G A upstream_gene_variant MELA-AU 1 202974690 202974691 multiple base substitution (>=2bp and <=200bp) GG CA upstream_gene_variant MELA-AU 1 202975080 202975080 single base substitution G A upstream_gene_variant MELA-AU 1 202976427 202976427 single base substitution C T upstream_gene_variant MELA-AU 1 202976631 202976631 single base substitution C T exon_variant MELA-AU 1 202976631 202976631 single base substitution C T missense_variant P13L 38C>T MELA-AU 1 202976631 202976631 single base substitution C T upstream_gene_variant MELA-AU 1 202976771 202976771 single base substitution C T exon_variant MELA-AU 1 202976771 202976771 single base substitution C T intron_variant MELA-AU 1 202976771 202976771 single base substitution C T upstream_gene_variant MELA-AU 1 202978379 202978379 single base substitution C T intron_variant MELA-AU 1 202978562 202978562 single base substitution C T intron_variant MELA-AU 1 202981677 202981677 single base substitution C T intron_variant MELA-AU 1 202981677 202981677 single base substitution C T upstream_gene_variant MELA-AU 1 202982486 202982486 single base substitution T C intron_variant MELA-AU 1 202982486 202982486 single base substitution T C upstream_gene_variant MELA-AU 1 202982935 202982935 single base substitution C T intron_variant MELA-AU 1 202982935 202982935 single base substitution C T upstream_gene_variant MELA-AU 1 202982943 202982943 single base substitution A G intron_variant MELA-AU 1 202982943 202982943 single base substitution A G upstream_gene_variant MELA-AU 1 202982973 202982973 single base substitution C T intron_variant MELA-AU 1 202982973 202982973 single base substitution C T upstream_gene_variant MELA-AU 1 202983179 202983180 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 202983179 202983180 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 202983489 202983489 single base substitution G T intron_variant MELA-AU 1 202983489 202983489 single base substitution G T upstream_gene_variant MELA-AU 1 202983493 202983493 single base substitution G T intron_variant MELA-AU 1 202983493 202983493 single base substitution G T upstream_gene_variant MELA-AU 1 202984227 202984227 single base substitution T C exon_variant MELA-AU 1 202984227 202984227 single base substitution T C intron_variant MELA-AU 1 202984227 202984227 single base substitution T C upstream_gene_variant MELA-AU 1 202985037 202985037 single base substitution G A downstream_gene_variant MELA-AU 1 202985037 202985037 single base substitution G A exon_variant MELA-AU 1 202985037 202985037 single base substitution G A intron_variant MELA-AU 1 202985054 202985054 single base substitution C T downstream_gene_variant MELA-AU 1 202985054 202985054 single base substitution C T exon_variant MELA-AU 1 202985054 202985054 single base substitution C T intron_variant MELA-AU 1 202985264 202985264 single base substitution C T downstream_gene_variant MELA-AU 1 202985264 202985264 single base substitution C T exon_variant MELA-AU 1 202985264 202985264 single base substitution C T missense_variant S235F 704C>T MELA-AU 1 202985328 202985328 single base substitution C T downstream_gene_variant MELA-AU 1 202985328 202985328 single base substitution C T intron_variant MELA-AU 1 202985429 202985429 single base substitution C T downstream_gene_variant MELA-AU 1 202985429 202985429 single base substitution C T intron_variant MELA-AU 1 202985490 202985490 single base substitution C T downstream_gene_variant MELA-AU 1 202985490 202985490 single base substitution C T intron_variant MELA-AU 1 202986001 202986001 single base substitution T A downstream_gene_variant MELA-AU 1 202986001 202986001 single base substitution T A intron_variant MELA-AU 1 202986033 202986033 single base substitution C T downstream_gene_variant MELA-AU 1 202986033 202986033 single base substitution C T intron_variant MELA-AU 1 202986193 202986193 single base substitution C T downstream_gene_variant MELA-AU 1 202986193 202986193 single base substitution C T intron_variant MELA-AU 1 202986853 202986853 single base substitution C T downstream_gene_variant MELA-AU 1 202986853 202986853 single base substitution C T intron_variant MELA-AU 1 202986939 202986939 single base substitution C T downstream_gene_variant MELA-AU 1 202986939 202986939 single base substitution C T exon_variant MELA-AU 1 202986939 202986939 single base substitution C T intron_variant MELA-AU 1 202987091 202987091 single base substitution C T downstream_gene_variant MELA-AU 1 202987091 202987091 single base substitution C T intron_variant MELA-AU 1 202987491 202987491 single base substitution C T downstream_gene_variant MELA-AU 1 202987491 202987491 single base substitution C T intron_variant MELA-AU 1 202987951 202987953 deletion of <=200bp GTC - downstream_gene_variant MELA-AU 1 202987951 202987953 deletion of <=200bp GTC - intron_variant MELA-AU 1 202988009 202988009 single base substitution C A downstream_gene_variant MELA-AU 1 202988009 202988009 single base substitution C A intron_variant MELA-AU 1 202989280 202989280 single base substitution C T downstream_gene_variant MELA-AU 1 202989280 202989280 single base substitution C T intron_variant MELA-AU 1 202989348 202989348 single base substitution A T downstream_gene_variant MELA-AU 1 202989348 202989348 single base substitution A T intron_variant MELA-AU 1 202990626 202990626 single base substitution T G downstream_gene_variant MELA-AU 1 202990626 202990626 single base substitution T G intron_variant MELA-AU 1 202991081 202991081 single base substitution C T downstream_gene_variant MELA-AU 1 202991081 202991081 single base substitution C T intron_variant MELA-AU 1 202991085 202991085 single base substitution T G downstream_gene_variant MELA-AU 1 202991085 202991085 single base substitution T G intron_variant MELA-AU 1 202991153 202991153 single base substitution C G downstream_gene_variant MELA-AU 1 202991153 202991153 single base substitution C G intron_variant MELA-AU 1 202991306 202991306 single base substitution C T downstream_gene_variant MELA-AU 1 202991306 202991306 single base substitution C T intron_variant MELA-AU 1 202991400 202991400 single base substitution C T downstream_gene_variant MELA-AU 1 202991400 202991400 single base substitution C T intron_variant MELA-AU 1 202991714 202991714 single base substitution C T downstream_gene_variant MELA-AU 1 202991714 202991714 single base substitution C T intron_variant MELA-AU 1 202992892 202992892 single base substitution G A 3_prime_UTR_variant MELA-AU 1 202992892 202992892 single base substitution G A downstream_gene_variant MELA-AU 1 202993404 202993404 single base substitution C T 3_prime_UTR_variant MELA-AU 1 202993404 202993404 single base substitution C T downstream_gene_variant MELA-AU 1 202993636 202993636 single base substitution C T 3_prime_UTR_variant MELA-AU 1 202993636 202993636 single base substitution C T downstream_gene_variant MELA-AU 1 202993638 202993638 single base substitution C T 3_prime_UTR_variant MELA-AU 1 202993638 202993638 single base substitution C T downstream_gene_variant MELA-AU 1 202994203 202994203 single base substitution C T downstream_gene_variant MELA-AU 1 202995532 202995532 single base substitution G A downstream_gene_variant MELA-AU 1 202995590 202995590 single base substitution T C downstream_gene_variant MELA-AU 1 202995602 202995602 single base substitution G A downstream_gene_variant MELA-AU 1 202995606 202995607 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 1 202995633 202995633 single base substitution G A downstream_gene_variant MELA-AU 1 202995944 202995944 single base substitution C T downstream_gene_variant MELA-AU 1 202995955 202995955 insertion of <=200bp - G downstream_gene_variant MELA-AU 1 202996413 202996413 single base substitution G C downstream_gene_variant MELA-AU 1 202996591 202996591 single base substitution C T downstream_gene_variant MELA-AU 1 202997301 202997301 single base substitution G A downstream_gene_variant MELA-AU 1 202998372 202998372 single base substitution C T downstream_gene_variant MELA-AU 1 202998653 202998653 single base substitution G C downstream_gene_variant OV-AU 1 202972143 202972143 single base substitution T A upstream_gene_variant OV-AU 1 202976032 202976032 single base substitution G T upstream_gene_variant OV-AU 1 202976425 202976425 single base substitution A T upstream_gene_variant OV-AU 1 202977194 202977194 single base substitution T G intron_variant OV-AU 1 202977194 202977194 single base substitution T G upstream_gene_variant OV-AU 1 202982394 202982394 single base substitution A G intron_variant OV-AU 1 202982394 202982394 single base substitution A G upstream_gene_variant PACA-AU 1 202974766 202974766 single base substitution G A upstream_gene_variant PACA-AU 1 202975108 202975108 single base substitution T C upstream_gene_variant PACA-AU 1 202983559 202983559 single base substitution C A intron_variant PACA-AU 1 202983559 202983559 single base substitution C A upstream_gene_variant PACA-AU 1 202983978 202983978 single base substitution G T intron_variant PACA-AU 1 202983978 202983978 single base substitution G T upstream_gene_variant PACA-AU 1 202987049 202987049 single base substitution T G downstream_gene_variant PACA-AU 1 202987049 202987049 single base substitution T G intron_variant PACA-AU 1 202987049 202987049 single base substitution T G splice_donor_variant PACA-AU 1 202990354 202990354 single base substitution C G downstream_gene_variant PACA-AU 1 202990354 202990354 single base substitution C G intron_variant PACA-AU 1 202992004 202992004 single base substitution G C downstream_gene_variant PACA-AU 1 202992004 202992004 single base substitution G C exon_variant PACA-AU 1 202992004 202992004 single base substitution G C missense_variant D323H 967G>C PACA-AU 1 202997317 202997317 single base substitution G A downstream_gene_variant PACA-CA 1 202974748 202974748 single base substitution C G upstream_gene_variant PACA-CA 1 202978156 202978156 single base substitution A G intron_variant PACA-CA 1 202980531 202980531 single base substitution C A intron_variant PACA-CA 1 202980531 202980531 single base substitution C A upstream_gene_variant PACA-CA 1 202984109 202984109 single base substitution T C exon_variant PACA-CA 1 202984109 202984109 single base substitution T C missense_variant S154P 460T>C PACA-CA 1 202984109 202984109 single base substitution T C upstream_gene_variant PACA-CA 1 202985960 202985960 single base substitution A G downstream_gene_variant PACA-CA 1 202985960 202985960 single base substitution A G intron_variant PACA-CA 1 202991204 202991204 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 202991204 202991204 insertion of <=200bp - T intron_variant PACA-CA 1 202992767 202992767 single base substitution A G 3_prime_UTR_variant PACA-CA 1 202992767 202992767 single base substitution A G downstream_gene_variant PACA-CA 1 202995226 202995226 single base substitution C T downstream_gene_variant PACA-CA 1 202996347 202996347 single base substitution T G downstream_gene_variant PACA-CA 1 202996666 202996666 single base substitution G A downstream_gene_variant PAEN-AU 1 202992719 202992719 single base substitution C T 3_prime_UTR_variant PAEN-AU 1 202992719 202992719 single base substitution C T downstream_gene_variant PAEN-AU 1 202996359 202996359 single base substitution T G downstream_gene_variant PBCA-DE 1 202979240 202979240 single base substitution C T intron_variant PBCA-DE 1 202982560 202982560 single base substitution G A intron_variant PBCA-DE 1 202982560 202982560 single base substitution G A upstream_gene_variant PBCA-DE 1 202986331 202986331 single base substitution G T downstream_gene_variant PBCA-DE 1 202986331 202986331 single base substitution G T intron_variant PBCA-DE 1 202987987 202987987 deletion of <=200bp C - downstream_gene_variant PBCA-DE 1 202987987 202987987 deletion of <=200bp C - intron_variant PBCA-DE 1 202993852 202993852 single base substitution A C 3_prime_UTR_variant PBCA-DE 1 202993852 202993852 single base substitution A C downstream_gene_variant PRAD-CA 1 202977904 202977904 single base substitution T A exon_variant PRAD-CA 1 202977904 202977904 single base substitution T A synonymous_variant T111T 333T>A PRAD-CA 1 202995425 202995425 single base substitution G C downstream_gene_variant PRAD-UK 1 202990682 202990682 single base substitution T G downstream_gene_variant PRAD-UK 1 202990682 202990682 single base substitution T G intron_variant RECA-EU 1 202973602 202973602 single base substitution C T upstream_gene_variant RECA-EU 1 202982987 202982987 single base substitution G T intron_variant RECA-EU 1 202982987 202982987 single base substitution G T upstream_gene_variant RECA-EU 1 202990074 202990074 single base substitution C G downstream_gene_variant RECA-EU 1 202990074 202990074 single base substitution C G missense_variant L315V 943C>G RECA-EU 1 202990074 202990074 single base substitution C G splice_region_variant RECA-EU 1 202990922 202990922 single base substitution G T downstream_gene_variant RECA-EU 1 202990922 202990922 single base substitution G T intron_variant SKCA-BR 1 202971550 202971550 single base substitution C T upstream_gene_variant SKCA-BR 1 202972646 202972646 single base substitution C T upstream_gene_variant SKCA-BR 1 202973357 202973357 single base substitution G A upstream_gene_variant SKCA-BR 1 202973678 202973678 single base substitution C T upstream_gene_variant SKCA-BR 1 202974397 202974397 single base substitution A G upstream_gene_variant SKCA-BR 1 202974909 202974909 single base substitution C T upstream_gene_variant SKCA-BR 1 202979503 202979503 single base substitution C T intron_variant SKCA-BR 1 202980346 202980346 single base substitution C T intron_variant SKCA-BR 1 202980346 202980346 single base substitution C T upstream_gene_variant SKCA-BR 1 202981278 202981278 single base substitution A T intron_variant SKCA-BR 1 202981278 202981278 single base substitution A T upstream_gene_variant SKCA-BR 1 202981435 202981435 insertion of <=200bp - CCAT intron_variant SKCA-BR 1 202981435 202981435 insertion of <=200bp - CCAT upstream_gene_variant SKCA-BR 1 202982291 202982291 single base substitution G T intron_variant SKCA-BR 1 202982291 202982291 single base substitution G T upstream_gene_variant SKCA-BR 1 202984792 202984792 single base substitution C T downstream_gene_variant SKCA-BR 1 202984792 202984792 single base substitution C T intron_variant SKCA-BR 1 202984792 202984792 single base substitution C T upstream_gene_variant SKCA-BR 1 202988980 202988980 single base substitution A T downstream_gene_variant SKCA-BR 1 202988980 202988980 single base substitution A T intron_variant SKCA-BR 1 202989138 202989138 single base substitution T G downstream_gene_variant SKCA-BR 1 202989138 202989138 single base substitution T G intron_variant SKCA-BR 1 202990110 202990111 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 1 202990110 202990111 deletion of <=200bp CT - intron_variant SKCA-BR 1 202990110 202990113 deletion of <=200bp CTTT - downstream_gene_variant SKCA-BR 1 202990110 202990113 deletion of <=200bp CTTT - intron_variant SKCA-BR 1 202993608 202993608 insertion of <=200bp - ATT 3_prime_UTR_variant SKCA-BR 1 202993608 202993608 insertion of <=200bp - ATT downstream_gene_variant SKCA-BR 1 202995581 202995581 insertion of <=200bp - CGG downstream_gene_variant SKCM-US 1 202984110 202984110 single base substitution C T exon_variant SKCM-US 1 202984110 202984110 single base substitution C T missense_variant S154F 461C>T SKCM-US 1 202984110 202984110 single base substitution C T upstream_gene_variant SKCM-US 1 202991991 202991991 single base substitution C T downstream_gene_variant SKCM-US 1 202991991 202991991 single base substitution C T exon_variant SKCM-US 1 202991991 202991991 single base substitution C T synonymous_variant I318I 954C>T STAD-US 1 202976930 202976930 single base substitution T C exon_variant STAD-US 1 202976930 202976930 single base substitution T C synonymous_variant D46D 138T>C STAD-US 1 202976930 202976930 single base substitution T C upstream_gene_variant STAD-US 1 202977772 202977772 single base substitution A G splice_region_variant STAD-US 1 202977772 202977772 single base substitution A G upstream_gene_variant STAD-US 1 202984028 202984028 single base substitution G A exon_variant STAD-US 1 202984028 202984028 single base substitution G A missense_variant G127R 379G>A STAD-US 1 202984028 202984028 single base substitution G A upstream_gene_variant STAD-US 1 202985125 202985125 single base substitution C T downstream_gene_variant STAD-US 1 202985125 202985125 single base substitution C T exon_variant STAD-US 1 202985125 202985125 single base substitution C T stop_gained R189* 565C>T STAD-US 1 202989959 202989959 single base substitution G A downstream_gene_variant STAD-US 1 202989959 202989959 single base substitution G A intron_variant STAD-US 1 202989959 202989959 single base substitution G A synonymous_variant Q276Q 828G>A STAD-US 1 202990020 202990020 single base substitution G A downstream_gene_variant STAD-US 1 202990020 202990020 single base substitution G A exon_variant STAD-US 1 202990020 202990020 single base substitution G A missense_variant V297I 889G>A UCEC-US 1 202977900 202977900 single base substitution G A exon_variant UCEC-US 1 202977900 202977900 single base substitution G A missense_variant R110K 329G>A UCEC-US 1 202985259 202985259 single base substitution G T downstream_gene_variant UCEC-US 1 202985259 202985259 single base substitution G T exon_variant UCEC-US 1 202985259 202985259 single base substitution G T missense_variant K233N 699G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand EW8 COSM2213307 c.850G>A p.V284I Substitution - Missense 1:203020853-203020853 + PCSI_0083_Pa_P_526 COSM3785114 c.460T>C p.S154P Substitution - Missense 1:203014981-203014981 + CPCG0339-F1 COSM4880576 c.333T>A p.T111T Substitution - coding silent 1:203008776-203008776 + TCGA-CC-A7IK-01 COSM4924699 c.749A>C p.Q250P Substitution - Missense 1:203018521-203018521 + cSCCP4 COSM143519 c.668_669CC>TT p.A223V Substitution - Missense 1:203016100-203016101 + 2492716 COSM5719159 c.379G>T p.G127W Substitution - Missense 1:203014900-203014900 + I2L-P7-Tumor-Organoid COSM5352569 c.781delA p.K262fs*6 Deletion - Frameshift 1:203018553-203018553 + TCGA-G4-6309-01 COSM1337942 c.560G>A p.R187H Substitution - Missense 1:203015992-203015992 + 8014573 COSM3385634 c.967G>C p.D323H Substitution - Missense 1:203022876-203022876 + SC_9008 COSM5475599 c.598C>T p.R200W Substitution - Missense 1:203016030-203016030 + SWE-44 COSM1180035 c.708+1G>A p.? Unknown 1:203016141-203016141 + TCGA-BR-8680-01 COSM4027128 c.201A>G p.V67V Substitution - coding silent 1:203008644-203008644 + LAU63 COSM233598 c.428C>T p.S143F Substitution - Missense 1:203014949-203014949 + TCGA-AA-A02J-01 COSM300817 c.677A>G p.E226G Substitution - Missense 1:203016109-203016109 + TCGA-AA-3492-01 COSM1337941 c.323A>G p.H108R Substitution - Missense 1:203008766-203008766 + TCGA-B7-5816-01 COSM4027127 c.138T>C p.D46D Substitution - coding silent 1:203007802-203007802 + T2269 COSM4734383 c.524G>A p.R175Q Substitution - Missense 1:203015045-203015045 + TCGA-BR-4201-01 COSM4027130 c.565C>T p.R189* Substitution - Nonsense 1:203015997-203015997 + CHEWS013 COSM4576778 c.542A>G p.D181G Substitution - Missense 1:203015974-203015974 + CSCC-27-T COSM4512277 c.898C>T p.L300F Substitution - Missense 1:203020901-203020901 + 1517_PT COSM5754323 c.455A>T p.N152I Substitution - Missense 1:203014976-203014976 + TCGA-EE-A180-06 COSM3481771 c.461C>T p.S154F Substitution - Missense 1:203014982-203014982 + TCGA-BR-4361-01 COSM4027131 c.828G>A p.Q276Q Substitution - coding silent 1:203020831-203020831 + RMS111_ COSM4987508 c.35G>A p.R12H Substitution - Missense 1:203007500-203007500 + 8066067 COSM3385634 c.967G>C p.D323H Substitution - Missense 1:203022876-203022876 + TCGA-JX-A3Q0-01 COSM4824187 c.656C>T p.S219F Substitution - Missense 1:203016088-203016088 + B79-Tumor COSM1748087 c.662A>T p.N221I Substitution - Missense 1:203016094-203016094 + TCGA-BR-4368-01 COSM4027132 c.889G>A p.V297I Substitution - Missense 1:203020892-203020892 + 8057513 COSM3385634 c.967G>C p.D323H Substitution - Missense 1:203022876-203022876 + ME009T COSM222626 c.673C>T p.P225S Substitution - Missense 1:203016105-203016105 + TCGA-B7-5816-01 COSM4027129 c.379G>A p.G127R Substitution - Missense 1:203014900-203014900 + TCGA-BS-A0UV-01 COSM902415 c.329G>A p.R110K Substitution - Missense 1:203008772-203008772 + TCGA-AP-A056-01 COSM209512 c.699G>T p.K233N Substitution - Missense 1:203016131-203016131 + 8057501 COSM3385634 c.967G>C p.D323H Substitution - Missense 1:203022876-203022876 + TCGA-AP-A05N-01 COSM902416 c.553C>T p.P185S Substitution - Missense 1:203015985-203015985 + PT55 COSM5941585 c.916C>T p.P306S Substitution - Missense 1:203020919-203020919 + LUAD-D01278 COSM362838 c.818G>C p.G273A Substitution - Missense 1:203020821-203020821 + TCGA-FW-A3R5-06 COSM3864140 c.954C>T p.I318I Substitution - coding silent 1:203022863-203022863 + B79 COSM1748087 c.662A>T p.N221I Substitution - Missense 1:203016094-203016094 + PTC-53C COSM4143236 c.20C>T p.P7L Substitution - Missense 1:203007485-203007485 + C0086T COSM4135916 c.943C>G p.L315V Substitution - Missense 1:203020946-203020946 + RK179_C01 COSM3700584 c.200-9T>G p.? Unknown 1:203008634-203008634 + sysucc-274T COSM5475599 c.598C>T p.R200W Substitution - Missense 1:203016030-203016030 + SK-MEL-2 COSM1668381 c.917C>T p.P306L Substitution - Missense 1:203020920-203020920 + TCGA-EB-A553-01 COSM3481771 c.461C>T p.S154F Substitution - Missense 1:203014982-203014982 + 8066081 COSM3385634 c.967G>C p.D323H Substitution - Missense 1:203022876-203022876 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.497442;Hs.497443 1q32.1 854742|dbSNP|BC013073|A/T|coding|Leu84His|310|Candidate; 854742|dbSNP|BC038952|A/T|coding|Leu84His|362|Candidate; 854742|dbSNP|BC067775|A/T|coding|Leu84His|320|Candidate; 859588|dbSNP|BC013073|G/T|coding|Asp14Tyr|99|Candidate; 859588|dbSNP|BC038952|G/T|coding|Asp14Tyr|151|Candidate; 859588|dbSNP|BC067775|G/T|coding|Asp14Tyr|109|Candidate; 1463398|dbSNP|BC013073|A/T|coding|Leu84His|310|Validated; 1463398|dbSNP|BC038952|A/T|coding|Leu84His|362|Validated; 1463398|dbSNP|BC067775|A/T|coding|Leu84His|320|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.1128+1687A>C 1 202993852 MB A G 3-UTRSNV . c.1128+1629A>G 1 202993794 HC A G Missense p.E226G c.677A>G 1 202985237 COREAD C T 3-UTRSNV . c.1128+725C>T 1 202992890 HC C T Missense p.H327Y c.979C>T 1 202992016 HNSC C T Missense p.P225S c.673C>T 1 202985233 CM C T Missense p.S154F c.461C>T 1 202984110 CM C T Nonsense p.R189* c.565C>T 1 202985125 STAD G A Missense p.G127R c.379G>A 1 202984028 STAD G A Missense p.R175Q c.524G>A 1 202984173 HNSC G A Missense p.V297I c.889G>A 1 202990020 STAD G C Synonymous p.T322T c.966G>C 1 202992003 CM G T Missense p.G88C c.262G>T 1 202977833 MM T C Synonymous p.D46D c.138T>C 1 202976930 STAD - T IntronicInsertion . c.527+156dupT 1 202984330 HC