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 20 44442074 44442074 + Splice_Site SNP A A G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr20:44442074A>G c.e2-1 BLCA 20 44442086 44442086 + Missense_Mutation SNP G G A TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr20:44442086G>A c.112G>A c.(112-114)Gag>Aag p.E38K BLCA 20 44442091 44442091 + Silent SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr20:44442091G>A c.117G>A c.(115-117)ctG>ctA p.L39L BLCA 20 44443105 44443105 + Missense_Mutation SNP G G C TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr20:44443105G>C c.212G>C c.(211-213)gGa>gCa p.G71A COAD 20 44444067 44444067 + Intron SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr20:44444067A>G COAD 20 44444337 44444337 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr20:44444337T>C c.374T>C c.(373-375)cTg>cCg p.L125P COAD 20 44444544 44444544 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr20:44444544A>C c.473A>C c.(472-474)aAc>aCc p.N158T COAD 20 44445366 44445366 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr20:44445366A>G c.500A>G c.(499-501)cAa>cGa p.Q167R COADREAD 20 44444067 44444067 + Intron SNP A A G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr20:44444067A>G COADREAD 20 44444337 44444337 + Missense_Mutation SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr20:44444337T>C c.374T>C c.(373-375)cTg>cCg p.L125P COADREAD 20 44444544 44444544 + Missense_Mutation SNP A A C TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr20:44444544A>C c.473A>C c.(472-474)aAc>aCc p.N158T COADREAD 20 44445347 44445347 + Splice_Site SNP G G C TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr20:44445347G>C c.e6-1 COADREAD 20 44445366 44445366 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr20:44445366A>G c.500A>G c.(499-501)cAa>cGa p.Q167R ESCA 20 44443031 44443031 + Silent SNP C C T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr20:44443031C>T c.138C>T c.(136-138)ggC>ggT p.G46G LIHC 20 44444540 44444540 + Frame_Shift_Del DEL A A - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr20:44444540delA c.469delA c.(469-471)aaafs p.K157fs LUAD 20 44441431 44441431 + Frame_Shift_Del DEL A A - TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr20:44441431delA c.97delA c.(97-99)aaafs p.K33fs LUAD 20 44443062 44443062 + Missense_Mutation SNP G G C TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr20:44443062G>C c.169G>C c.(169-171)Gac>Cac p.D57H LUAD 20 44444115 44444115 + Intron SNP G G T TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr20:44444115G>T LUAD 20 44444350 44444350 + Silent SNP G G A TCGA-91-6848-01A-11D-1945-08 TCGA-91-6848-11A-01D-1945-08 g.chr20:44444350G>A c.387G>A c.(385-387)agG>agA p.R129R LUAD 20 44444383 44444383 + Splice_Site SNP A A G TCGA-78-7154-01A-11D-2036-08 TCGA-78-7154-10A-01D-2036-08 g.chr20:44444383A>G c.420A>G c.(418-420)ggA>ggG p.G140G LUSC 20 44444263 44444263 + Silent SNP G G A TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr20:44444263G>A c.300G>A c.(298-300)acG>acA p.T100T LUSC 20 44444350 44444350 + Missense_Mutation SNP G G T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr20:44444350G>T c.387G>T c.(385-387)agG>agT p.R129S PRAD 20 44444280 44444280 + Missense_Mutation SNP A A G TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 g.chr20:44444280A>G c.317A>G c.(316-318)aAc>aGc p.N106S READ 20 44445347 44445347 + Splice_Site SNP G G C TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr20:44445347G>C c.e6-1 SARC 20 44444191 44444191 + Missense_Mutation SNP C C A TCGA-WK-A8XT-01A-11D-A37C-09 TCGA-WK-A8XT-10A-01D-A37F-09 g.chr20:44444191C>A c.228C>A c.(226-228)gaC>gaA p.D76E SKCM 20 44443052 44443052 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:44443052C>T c.159C>T c.(157-159)ttC>ttT p.F53F SKCM 20 44444315 44444315 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr20:44444315C>T c.352C>T c.(352-354)Ctg>Ttg p.L118L SKCM 20 44444545 44444545 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr20:44444545C>T c.474C>T c.(472-474)aaC>aaT p.N158N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 20 44442074 44442074 single base substitution A G 5_prime_UTR_variant BLCA-US 20 44442074 44442074 single base substitution A G splice_acceptor_variant BLCA-US 20 44442074 44442074 single base substitution A G upstream_gene_variant BRCA-EU 20 44436363 44436363 single base substitution G A upstream_gene_variant BRCA-EU 20 44436625 44436625 single base substitution G A upstream_gene_variant BRCA-EU 20 44436703 44436703 single base substitution G A upstream_gene_variant BRCA-EU 20 44436902 44436902 single base substitution G A upstream_gene_variant BRCA-EU 20 44437245 44437245 single base substitution C G upstream_gene_variant BRCA-EU 20 44437431 44437431 single base substitution T C upstream_gene_variant BRCA-EU 20 44439355 44439355 single base substitution A T upstream_gene_variant BRCA-EU 20 44441333 44441333 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 20 44441333 44441333 single base substitution G T upstream_gene_variant BRCA-EU 20 44441567 44441567 single base substitution C T 5_prime_UTR_variant BRCA-EU 20 44441567 44441567 single base substitution C T intron_variant BRCA-EU 20 44441567 44441567 single base substitution C T upstream_gene_variant BRCA-EU 20 44442059 44442059 single base substitution G C 5_prime_UTR_variant BRCA-EU 20 44442059 44442059 single base substitution G C intron_variant BRCA-EU 20 44442059 44442059 single base substitution G C upstream_gene_variant BRCA-EU 20 44443033 44443033 single base substitution A G intron_variant BRCA-EU 20 44443033 44443033 single base substitution A G missense_variant D47G 140A>G BRCA-EU 20 44443033 44443033 single base substitution A G missense_variant D8G 23A>G BRCA-EU 20 44443033 44443033 single base substitution A G upstream_gene_variant BRCA-EU 20 44443073 44443073 single base substitution C T exon_variant BRCA-EU 20 44443073 44443073 single base substitution C T intron_variant BRCA-EU 20 44443073 44443073 single base substitution C T synonymous_variant F21F 63C>T BRCA-EU 20 44443073 44443073 single base substitution C T synonymous_variant F60F 180C>T BRCA-EU 20 44443129 44443129 single base substitution G T intron_variant BRCA-EU 20 44444915 44444915 single base substitution G C intron_variant BRCA-EU 20 44444931 44444931 single base substitution C G intron_variant BRCA-EU 20 44445622 44445622 single base substitution G T downstream_gene_variant BRCA-EU 20 44446714 44446714 single base substitution G C downstream_gene_variant BRCA-EU 20 44447216 44447216 single base substitution C T downstream_gene_variant BRCA-EU 20 44447248 44447248 single base substitution G C downstream_gene_variant BRCA-EU 20 44447354 44447354 single base substitution G A downstream_gene_variant BRCA-EU 20 44447906 44447906 single base substitution C A downstream_gene_variant BRCA-EU 20 44448592 44448592 single base substitution C T downstream_gene_variant BRCA-EU 20 44449660 44449660 single base substitution G C downstream_gene_variant BRCA-EU 20 44450436 44450436 single base substitution A T downstream_gene_variant BRCA-FR 20 44442725 44442725 single base substitution G C intron_variant BRCA-FR 20 44442725 44442725 single base substitution G C upstream_gene_variant BRCA-FR 20 44443129 44443129 single base substitution G T intron_variant BRCA-FR 20 44444915 44444915 single base substitution G C intron_variant BRCA-UK 20 44436625 44436625 single base substitution G A upstream_gene_variant BRCA-UK 20 44450436 44450436 single base substitution A T downstream_gene_variant BRCA-US 20 44441931 44441931 single base substitution T G 5_prime_UTR_variant BRCA-US 20 44441931 44441931 single base substitution T G intron_variant BRCA-US 20 44441931 44441931 single base substitution T G splice_donor_variant BRCA-US 20 44441931 44441931 single base substitution T G upstream_gene_variant BTCA-JP 20 44439494 44439494 single base substitution A G upstream_gene_variant BTCA-JP 20 44442067 44442067 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 20 44442067 44442067 deletion of <=200bp T - intron_variant BTCA-JP 20 44442067 44442067 deletion of <=200bp T - upstream_gene_variant BTCA-JP 20 44442991 44442991 single base substitution T A intron_variant BTCA-JP 20 44442991 44442991 single base substitution T A upstream_gene_variant BTCA-JP 20 44444493 44444493 single base substitution A C missense_variant E102A 305A>C BTCA-JP 20 44444493 44444493 single base substitution A C missense_variant E112A 335A>C BTCA-JP 20 44444493 44444493 single base substitution A C missense_variant E123A 368A>C BTCA-JP 20 44444493 44444493 single base substitution A C missense_variant E141A 422A>C BTCA-JP 20 44444493 44444493 single base substitution A C missense_variant N44H 130A>C BTCA-JP 20 44444493 44444493 single base substitution A C splice_region_variant COAD-US 20 44439795 44439795 single base substitution G C upstream_gene_variant COAD-US 20 44444067 44444067 single base substitution A G intron_variant COAD-US 20 44444067 44444067 single base substitution A G synonymous_variant L85L 255A>G COCA-CN 20 44444074 44444074 single base substitution G A intron_variant COCA-CN 20 44444074 44444074 single base substitution G A missense_variant G88S 262G>A COCA-CN 20 44444074 44444074 single base substitution G A splice_region_variant COCA-CN 20 44444140 44444140 single base substitution C T exon_variant COCA-CN 20 44444140 44444140 single base substitution C T intron_variant COCA-CN 20 44444140 44444140 single base substitution C T synonymous_variant L110L 328C>T COCA-CN 20 44444531 44444531 single base substitution G A 3_prime_UTR_variant COCA-CN 20 44444531 44444531 single base substitution G A exon_variant COCA-CN 20 44444531 44444531 single base substitution G A missense_variant E115K 343G>A COCA-CN 20 44444531 44444531 single base substitution G A missense_variant E125K 373G>A COCA-CN 20 44444531 44444531 single base substitution G A missense_variant E136K 406G>A COCA-CN 20 44444531 44444531 single base substitution G A missense_variant E154K 460G>A EOPC-DE 20 44448841 44448841 single base substitution G A downstream_gene_variant ESAD-UK 20 44438427 44438427 single base substitution C T upstream_gene_variant ESAD-UK 20 44441577 44441577 single base substitution G A 5_prime_UTR_variant ESAD-UK 20 44441577 44441577 single base substitution G A intron_variant ESAD-UK 20 44441577 44441577 single base substitution G A upstream_gene_variant ESAD-UK 20 44442459 44442459 single base substitution G C intron_variant ESAD-UK 20 44442459 44442459 single base substitution G C upstream_gene_variant ESAD-UK 20 44442789 44442789 single base substitution A C intron_variant ESAD-UK 20 44442789 44442789 single base substitution A C upstream_gene_variant ESAD-UK 20 44442791 44442791 single base substitution A C intron_variant ESAD-UK 20 44442791 44442791 single base substitution A C upstream_gene_variant ESAD-UK 20 44445258 44445259 deletion of <=200bp AG - intron_variant ESAD-UK 20 44445391 44445391 single base substitution C T 3_prime_UTR_variant ESAD-UK 20 44445391 44445391 single base substitution C T exon_variant ESAD-UK 20 44445391 44445391 single base substitution C T synonymous_variant T136T 408C>T ESAD-UK 20 44445391 44445391 single base substitution C T synonymous_variant T146T 438C>T ESAD-UK 20 44445391 44445391 single base substitution C T synonymous_variant T157T 471C>T ESAD-UK 20 44445391 44445391 single base substitution C T synonymous_variant T175T 525C>T ESAD-UK 20 44448586 44448586 single base substitution G A downstream_gene_variant ESAD-UK 20 44448998 44448998 single base substitution T A downstream_gene_variant ESAD-UK 20 44450372 44450372 single base substitution G T downstream_gene_variant ESAD-UK 20 44450528 44450528 single base substitution G A downstream_gene_variant LAML-KR 20 44442785 44442785 single base substitution C A intron_variant LAML-KR 20 44442785 44442785 single base substitution C A upstream_gene_variant LINC-JP 20 44444113 44444113 single base substitution T C exon_variant LINC-JP 20 44444113 44444113 single base substitution T C intron_variant LINC-JP 20 44444113 44444113 single base substitution T C missense_variant W101R 301T>C LIRI-JP 20 44436491 44436491 single base substitution T A upstream_gene_variant LIRI-JP 20 44436754 44436754 single base substitution G T upstream_gene_variant LIRI-JP 20 44437533 44437533 single base substitution G A upstream_gene_variant LIRI-JP 20 44439732 44439732 single base substitution C G upstream_gene_variant LIRI-JP 20 44440347 44440347 single base substitution A G upstream_gene_variant LIRI-JP 20 44444321 44444321 single base substitution G T exon_variant LIRI-JP 20 44444321 44444321 single base substitution G T intron_variant LIRI-JP 20 44444321 44444321 single base substitution G T stop_gained E120* 358G>T LIRI-JP 20 44444321 44444321 single base substitution G T stop_gained E81* 241G>T LIRI-JP 20 44444321 44444321 single base substitution G T stop_gained E91* 271G>T LIRI-JP 20 44445377 44445377 single base substitution T C 3_prime_UTR_variant LIRI-JP 20 44445377 44445377 single base substitution T C exon_variant LIRI-JP 20 44445377 44445377 single base substitution T C missense_variant S132P 394T>C LIRI-JP 20 44445377 44445377 single base substitution T C missense_variant S142P 424T>C LIRI-JP 20 44445377 44445377 single base substitution T C missense_variant S153P 457T>C LIRI-JP 20 44445377 44445377 single base substitution T C missense_variant S171P 511T>C LIRI-JP 20 44445501 44445501 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 44445501 44445501 single base substitution A G downstream_gene_variant LIRI-JP 20 44448938 44448938 single base substitution G A downstream_gene_variant LIRI-JP 20 44449428 44449428 single base substitution A G downstream_gene_variant LUSC-KR 20 44437044 44437044 single base substitution C T upstream_gene_variant LUSC-KR 20 44442326 44442326 single base substitution C T intron_variant LUSC-KR 20 44442326 44442326 single base substitution C T upstream_gene_variant LUSC-KR 20 44442787 44442787 single base substitution A C intron_variant LUSC-KR 20 44442787 44442787 single base substitution A C upstream_gene_variant LUSC-KR 20 44446381 44446381 single base substitution G A downstream_gene_variant LUSC-KR 20 44448792 44448792 single base substitution A T downstream_gene_variant LUSC-KR 20 44448980 44448980 single base substitution G A downstream_gene_variant LUSC-KR 20 44449967 44449967 single base substitution G C downstream_gene_variant LUSC-US 20 44444263 44444263 single base substitution G A exon_variant LUSC-US 20 44444263 44444263 single base substitution G A intron_variant LUSC-US 20 44444263 44444263 single base substitution G A synonymous_variant T100T 300G>A LUSC-US 20 44444263 44444263 single base substitution G A synonymous_variant T61T 183G>A LUSC-US 20 44444263 44444263 single base substitution G A synonymous_variant T71T 213G>A LUSC-US 20 44444350 44444350 single base substitution G T exon_variant LUSC-US 20 44444350 44444350 single base substitution G T intron_variant LUSC-US 20 44444350 44444350 single base substitution G T missense_variant R100S 300G>T LUSC-US 20 44444350 44444350 single base substitution G T missense_variant R129S 387G>T LUSC-US 20 44444350 44444350 single base substitution G T missense_variant R90S 270G>T MALY-DE 20 44436484 44436484 single base substitution G T upstream_gene_variant MALY-DE 20 44444925 44444933 deletion of <=200bp CCTCCTCCA - intron_variant MALY-DE 20 44446536 44446536 single base substitution A C downstream_gene_variant MALY-DE 20 44448998 44448998 single base substitution T A downstream_gene_variant MELA-AU 20 44436239 44436239 single base substitution C T upstream_gene_variant MELA-AU 20 44436245 44436245 single base substitution C T upstream_gene_variant MELA-AU 20 44436734 44436734 single base substitution C T upstream_gene_variant MELA-AU 20 44437045 44437045 single base substitution C T upstream_gene_variant MELA-AU 20 44437273 44437273 single base substitution C T upstream_gene_variant MELA-AU 20 44437568 44437568 single base substitution C T upstream_gene_variant MELA-AU 20 44438002 44438002 single base substitution C T upstream_gene_variant MELA-AU 20 44438383 44438383 single base substitution C T upstream_gene_variant MELA-AU 20 44439240 44439240 single base substitution C T upstream_gene_variant MELA-AU 20 44439632 44439632 single base substitution C T upstream_gene_variant MELA-AU 20 44440241 44440241 single base substitution C T upstream_gene_variant MELA-AU 20 44441069 44441069 single base substitution T C upstream_gene_variant MELA-AU 20 44441162 44441162 single base substitution G A upstream_gene_variant MELA-AU 20 44441182 44441182 single base substitution C T upstream_gene_variant MELA-AU 20 44441183 44441183 single base substitution G A upstream_gene_variant MELA-AU 20 44441215 44441215 single base substitution G A 5_prime_UTR_variant MELA-AU 20 44441215 44441215 single base substitution G A upstream_gene_variant MELA-AU 20 44441280 44441281 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 20 44441280 44441281 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 44441690 44441690 single base substitution C T 5_prime_UTR_variant MELA-AU 20 44441690 44441690 single base substitution C T intron_variant MELA-AU 20 44441690 44441690 single base substitution C T upstream_gene_variant MELA-AU 20 44441740 44441740 single base substitution C T 5_prime_UTR_variant MELA-AU 20 44441740 44441740 single base substitution C T intron_variant MELA-AU 20 44441740 44441740 single base substitution C T upstream_gene_variant MELA-AU 20 44441912 44441912 single base substitution G T 5_prime_UTR_variant MELA-AU 20 44441912 44441912 single base substitution G T intron_variant MELA-AU 20 44441912 44441912 single base substitution G T upstream_gene_variant MELA-AU 20 44441940 44441941 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 20 44441940 44441941 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 44441940 44441941 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 44441988 44441988 single base substitution C T 5_prime_UTR_variant MELA-AU 20 44441988 44441988 single base substitution C T intron_variant MELA-AU 20 44441988 44441988 single base substitution C T upstream_gene_variant MELA-AU 20 44442278 44442278 single base substitution C T intron_variant MELA-AU 20 44442278 44442278 single base substitution C T upstream_gene_variant MELA-AU 20 44442307 44442308 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 44442307 44442308 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 44442785 44442785 single base substitution C A intron_variant MELA-AU 20 44442785 44442785 single base substitution C A upstream_gene_variant MELA-AU 20 44442789 44442789 single base substitution A C intron_variant MELA-AU 20 44442789 44442789 single base substitution A C upstream_gene_variant MELA-AU 20 44444585 44444585 single base substitution C T intron_variant MELA-AU 20 44444909 44444909 single base substitution G A intron_variant MELA-AU 20 44444940 44444940 single base substitution C T intron_variant MELA-AU 20 44445615 44445615 single base substitution C T downstream_gene_variant MELA-AU 20 44446116 44446116 single base substitution C T downstream_gene_variant MELA-AU 20 44446155 44446155 single base substitution C T downstream_gene_variant MELA-AU 20 44446414 44446414 single base substitution C T downstream_gene_variant MELA-AU 20 44446493 44446493 single base substitution G A downstream_gene_variant MELA-AU 20 44446932 44446932 single base substitution C T downstream_gene_variant MELA-AU 20 44447650 44447650 single base substitution G A downstream_gene_variant MELA-AU 20 44448031 44448031 single base substitution A T downstream_gene_variant MELA-AU 20 44448180 44448180 single base substitution G A downstream_gene_variant MELA-AU 20 44448303 44448303 single base substitution G A downstream_gene_variant MELA-AU 20 44448440 44448440 single base substitution C A downstream_gene_variant MELA-AU 20 44448482 44448482 single base substitution G A downstream_gene_variant MELA-AU 20 44448771 44448771 single base substitution C T downstream_gene_variant MELA-AU 20 44448886 44448886 single base substitution G A downstream_gene_variant MELA-AU 20 44448886 44448887 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 44449058 44449058 single base substitution G A downstream_gene_variant MELA-AU 20 44449075 44449075 single base substitution A G downstream_gene_variant MELA-AU 20 44449119 44449119 single base substitution C T downstream_gene_variant MELA-AU 20 44449204 44449204 single base substitution G A downstream_gene_variant MELA-AU 20 44449355 44449355 single base substitution C T downstream_gene_variant MELA-AU 20 44449588 44449588 single base substitution T C downstream_gene_variant MELA-AU 20 44449946 44449946 single base substitution G A downstream_gene_variant MELA-AU 20 44450574 44450574 single base substitution G A downstream_gene_variant ORCA-IN 20 44444209 44444209 single base substitution G A exon_variant ORCA-IN 20 44444209 44444209 single base substitution G A intron_variant ORCA-IN 20 44444209 44444209 single base substitution G A synonymous_variant S43S 129G>A ORCA-IN 20 44444209 44444209 single base substitution G A synonymous_variant S53S 159G>A ORCA-IN 20 44444209 44444209 single base substitution G A synonymous_variant S82S 246G>A OV-AU 20 44439757 44439757 single base substitution G C upstream_gene_variant OV-AU 20 44440961 44440961 single base substitution C T upstream_gene_variant OV-AU 20 44448937 44448937 single base substitution A T downstream_gene_variant PACA-AU 20 44437289 44437289 single base substitution A G upstream_gene_variant PACA-AU 20 44437321 44437321 single base substitution T A upstream_gene_variant PACA-AU 20 44442022 44442022 single base substitution C G 5_prime_UTR_variant PACA-AU 20 44442022 44442022 single base substitution C G intron_variant PACA-AU 20 44442022 44442022 single base substitution C G upstream_gene_variant PACA-AU 20 44442785 44442785 single base substitution C A intron_variant PACA-AU 20 44442785 44442785 single base substitution C A upstream_gene_variant PACA-AU 20 44443251 44443251 single base substitution T A intron_variant PACA-AU 20 44443472 44443472 single base substitution C T intron_variant PACA-AU 20 44447740 44447740 single base substitution C T downstream_gene_variant PACA-CA 20 44436293 44436293 single base substitution C T upstream_gene_variant PACA-CA 20 44437465 44437465 single base substitution G C upstream_gene_variant PACA-CA 20 44439767 44439767 single base substitution G C upstream_gene_variant PACA-CA 20 44440023 44440023 single base substitution G A upstream_gene_variant PACA-CA 20 44440096 44440096 single base substitution G A upstream_gene_variant PACA-CA 20 44440184 44440184 single base substitution G A upstream_gene_variant PACA-CA 20 44440194 44440194 single base substitution G A upstream_gene_variant PACA-CA 20 44440286 44440286 single base substitution G A upstream_gene_variant PACA-CA 20 44440439 44440439 single base substitution G A upstream_gene_variant PACA-CA 20 44440482 44440482 single base substitution G A upstream_gene_variant PACA-CA 20 44440906 44440906 single base substitution G T upstream_gene_variant PACA-CA 20 44440986 44440986 single base substitution G C upstream_gene_variant PACA-CA 20 44441442 44441442 single base substitution G A 5_prime_UTR_variant PACA-CA 20 44441442 44441442 single base substitution G A intron_variant PACA-CA 20 44441442 44441442 single base substitution G A upstream_gene_variant PACA-CA 20 44441607 44441607 single base substitution G C 5_prime_UTR_variant PACA-CA 20 44441607 44441607 single base substitution G C intron_variant PACA-CA 20 44441607 44441607 single base substitution G C upstream_gene_variant PACA-CA 20 44441616 44441616 single base substitution G A 5_prime_UTR_variant PACA-CA 20 44441616 44441616 single base substitution G A intron_variant PACA-CA 20 44441616 44441616 single base substitution G A upstream_gene_variant PACA-CA 20 44441694 44441694 single base substitution G T 5_prime_UTR_variant PACA-CA 20 44441694 44441694 single base substitution G T intron_variant PACA-CA 20 44441694 44441694 single base substitution G T upstream_gene_variant PACA-CA 20 44441846 44441846 single base substitution G C 5_prime_UTR_variant PACA-CA 20 44441846 44441846 single base substitution G C intron_variant PACA-CA 20 44441846 44441846 single base substitution G C upstream_gene_variant PACA-CA 20 44441981 44441981 single base substitution G C 5_prime_UTR_variant PACA-CA 20 44441981 44441981 single base substitution G C intron_variant PACA-CA 20 44441981 44441981 single base substitution G C upstream_gene_variant PACA-CA 20 44442091 44442091 single base substitution G T 5_prime_UTR_variant PACA-CA 20 44442091 44442091 single base substitution G T synonymous_variant L39L 117G>T PACA-CA 20 44442091 44442091 single base substitution G T upstream_gene_variant PACA-CA 20 44442183 44442183 single base substitution G A intron_variant PACA-CA 20 44442183 44442183 single base substitution G A upstream_gene_variant PACA-CA 20 44442415 44442415 single base substitution G A intron_variant PACA-CA 20 44442415 44442415 single base substitution G A upstream_gene_variant PACA-CA 20 44442520 44442520 single base substitution G A intron_variant PACA-CA 20 44442520 44442520 single base substitution G A upstream_gene_variant PACA-CA 20 44442608 44442608 single base substitution G A intron_variant PACA-CA 20 44442608 44442608 single base substitution G A upstream_gene_variant PACA-CA 20 44442785 44442785 single base substitution C A intron_variant PACA-CA 20 44442785 44442785 single base substitution C A upstream_gene_variant PACA-CA 20 44447670 44447670 single base substitution C T downstream_gene_variant PACA-CA 20 44448393 44448393 single base substitution G A downstream_gene_variant PACA-CA 20 44448999 44448999 single base substitution A T downstream_gene_variant PBCA-DE 20 44437446 44437446 single base substitution G A upstream_gene_variant PBCA-DE 20 44438665 44438665 insertion of <=200bp - A upstream_gene_variant PRAD-CA 20 44439231 44439231 single base substitution C T upstream_gene_variant PRAD-UK 20 44437211 44437211 single base substitution G A upstream_gene_variant READ-US 20 44445347 44445347 single base substitution G C splice_acceptor_variant RECA-EU 20 44440744 44440744 single base substitution C T upstream_gene_variant RECA-EU 20 44441663 44441663 single base substitution G C 5_prime_UTR_variant RECA-EU 20 44441663 44441663 single base substitution G C intron_variant RECA-EU 20 44441663 44441663 single base substitution G C upstream_gene_variant SKCA-BR 20 44437318 44437318 single base substitution C T upstream_gene_variant SKCA-BR 20 44439731 44439731 single base substitution C T upstream_gene_variant SKCA-BR 20 44439867 44439867 single base substitution C T upstream_gene_variant SKCA-BR 20 44440551 44440553 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 20 44440564 44440564 single base substitution C T upstream_gene_variant SKCA-BR 20 44441034 44441034 single base substitution T A upstream_gene_variant SKCA-BR 20 44442787 44442787 single base substitution A C intron_variant SKCA-BR 20 44442787 44442787 single base substitution A C upstream_gene_variant SKCA-BR 20 44442860 44442862 deletion of <=200bp CAT - intron_variant SKCA-BR 20 44442860 44442862 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 20 44445730 44445730 single base substitution T C downstream_gene_variant SKCA-BR 20 44447625 44447625 insertion of <=200bp - TAAC downstream_gene_variant SKCA-BR 20 44447840 44447840 single base substitution C T downstream_gene_variant SKCA-BR 20 44447841 44447841 single base substitution C T downstream_gene_variant SKCA-BR 20 44447876 44447876 single base substitution T C downstream_gene_variant SKCA-BR 20 44447922 44447922 single base substitution A G downstream_gene_variant SKCA-BR 20 44448029 44448029 single base substitution G A downstream_gene_variant SKCA-BR 20 44448611 44448611 single base substitution A T downstream_gene_variant SKCA-BR 20 44448881 44448881 single base substitution G A downstream_gene_variant SKCA-BR 20 44449471 44449471 single base substitution A G downstream_gene_variant SKCA-BR 20 44450217 44450217 single base substitution C G downstream_gene_variant SKCM-US 20 44439731 44439731 single base substitution C T upstream_gene_variant SKCM-US 20 44443052 44443052 single base substitution C T exon_variant SKCM-US 20 44443052 44443052 single base substitution C T intron_variant SKCM-US 20 44443052 44443052 single base substitution C T synonymous_variant F14F 42C>T SKCM-US 20 44443052 44443052 single base substitution C T synonymous_variant F53F 159C>T SKCM-US 20 44444315 44444315 single base substitution C T exon_variant SKCM-US 20 44444315 44444315 single base substitution C T intron_variant SKCM-US 20 44444315 44444315 single base substitution C T synonymous_variant L118L 352C>T SKCM-US 20 44444315 44444315 single base substitution C T synonymous_variant L79L 235C>T SKCM-US 20 44444315 44444315 single base substitution C T synonymous_variant L89L 265C>T SKCM-US 20 44444545 44444545 single base substitution C T 3_prime_UTR_variant SKCM-US 20 44444545 44444545 single base substitution C T exon_variant SKCM-US 20 44444545 44444545 single base substitution C T synonymous_variant N119N 357C>T SKCM-US 20 44444545 44444545 single base substitution C T synonymous_variant N129N 387C>T SKCM-US 20 44444545 44444545 single base substitution C T synonymous_variant N140N 420C>T SKCM-US 20 44444545 44444545 single base substitution C T synonymous_variant N158N 474C>T STAD-US 20 44439551 44439551 single base substitution C T upstream_gene_variant STAD-US 20 44442079 44442079 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant STAD-US 20 44442079 44442079 single base substitution A G synonymous_variant L35L 105A>G STAD-US 20 44442079 44442079 single base substitution A G upstream_gene_variant STAD-US 20 44444242 44444242 single base substitution G A exon_variant STAD-US 20 44444242 44444242 single base substitution G A intron_variant STAD-US 20 44444242 44444242 single base substitution G A synonymous_variant A54A 162G>A STAD-US 20 44444242 44444242 single base substitution G A synonymous_variant A64A 192G>A STAD-US 20 44444242 44444242 single base substitution G A synonymous_variant A93A 279G>A UCEC-US 20 44444140 44444140 single base substitution C T exon_variant UCEC-US 20 44444140 44444140 single base substitution C T intron_variant UCEC-US 20 44444140 44444140 single base substitution C T synonymous_variant L110L 328C>T UCEC-US 20 44444209 44444209 single base substitution G A exon_variant UCEC-US 20 44444209 44444209 single base substitution G A intron_variant UCEC-US 20 44444209 44444209 single base substitution G A synonymous_variant S43S 129G>A UCEC-US 20 44444209 44444209 single base substitution G A synonymous_variant S53S 159G>A UCEC-US 20 44444209 44444209 single base substitution G A synonymous_variant S82S 246G>A UCEC-US 20 44444262 44444262 single base substitution C T exon_variant UCEC-US 20 44444262 44444262 single base substitution C T intron_variant UCEC-US 20 44444262 44444262 single base substitution C T missense_variant T100M 299C>T UCEC-US 20 44444262 44444262 single base substitution C T missense_variant T61M 182C>T UCEC-US 20 44444262 44444262 single base substitution C T missense_variant T71M 212C>T UCEC-US 20 44444362 44444362 single base substitution C A exon_variant UCEC-US 20 44444362 44444362 single base substitution C A intron_variant UCEC-US 20 44444362 44444362 single base substitution C A synonymous_variant L104L 312C>A UCEC-US 20 44444362 44444362 single base substitution C A synonymous_variant L133L 399C>A UCEC-US 20 44444362 44444362 single base substitution C A synonymous_variant L94L 282C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D3-A2JH-06 COSM3547093 c.474C>T p.N158N Substitution - coding silent 20:45815906-45815906 + TCGA-CG-5721-01 COSM4098864 c.105A>G p.L35L Substitution - coding silent 20:45813440-45813440 + sysucc-707T COSM5460087 c.460G>A p.E154K Substitution - Missense 20:45815892-45815892 + PCSI_0105_Pa_P_526 COSM4962153 c.117G>T p.L39L Substitution - coding silent 20:45813452-45813452 + LUAD-B02077 COSM335131 c.123C>A p.T41T Substitution - coding silent 20:45813458-45813458 + ME043T COSM228738 c.216+1G>C p.? Unknown 20:45814471-45814471 + LC_S12 COSM1190269 c.217-1G>A p.? Unknown 20:45815540-45815540 + YUPAER COSM5392205 c.437G>A p.S146N Substitution - Missense 20:45815869-45815869 + TCGA-G2-A3IE-01 COSM1307456 c.102-2A>G p.? Unknown 20:45813435-45813435 + TCGA-EE-A2MJ-06 COSM3547092 c.352C>T p.L118L Substitution - coding silent 20:45815676-45815676 + CSCC-31-T COSM4485573 c.294C>T p.F98F Substitution - coding silent 20:45815618-45815618 + 2328683 COSM4972196 c.245C>T p.S82L Substitution - Missense 20:45815569-45815569 + TCGA-EI-6506-01 COSM1565758 c.482-1G>C p.? Unknown 20:45816708-45816708 + OSCC-GB_00220111 COSM1027284 c.246G>A p.S82S Substitution - coding silent 20:45815570-45815570 + RK141_C01 COSM1632317 c.511T>C p.S171P Substitution - Missense 20:45816738-45816738 + T3603 COSM4738666 c.501A>G p.Q167Q Substitution - coding silent 20:45816728-45816728 + TCGA-39-5035-01 COSM724442 c.300G>A p.T100T Substitution - coding silent 20:45815624-45815624 + TCGA-B5-A0JY-01 COSM1027286 c.399C>A p.L133L Substitution - coding silent 20:45815723-45815723 + Pat_28_B COSM5857982 c.129+1G>A p.? Unknown 20:45813465-45813465 + 22T COSM1027284 c.246G>A p.S82S Substitution - coding silent 20:45815570-45815570 + PCSI_0105_Pa_P_526 COSM4962187 c.101+7G>A p.? Unknown 20:45812803-45812803 + SC_9048 COSM4098866 c.279G>A p.A93A Substitution - coding silent 20:45815603-45815603 + TCGA-D1-A15X-01 COSM1027285 c.299C>T p.T100M Substitution - Missense 20:45815623-45815623 + I2L-P7-Tumor-Organoid COSM5366120 c.407A>G p.Q136R Substitution - Missense 20:45815731-45815731 + 2521260 COSM5891548 c.482-4C>T p.? Unknown 20:45816705-45816705 + ID29 COSM1166607 c.14_15insC p.R6fs*7 Insertion - Frameshift 20:45812709-45812710 + TCGA-B7-5816-01 COSM4098866 c.279G>A p.A93A Substitution - coding silent 20:45815603-45815603 + Au3 COSM5602545 c.217-10C>T p.? Unknown 20:45815531-45815531 + ID11 COSM1166607 c.14_15insC p.R6fs*7 Insertion - Frameshift 20:45812709-45812710 + PD9605a COSM5772553 c.140A>G p.D47G Substitution - Missense 20:45814394-45814394 + YUPAER COSM5392203 c.435T>A p.D145E Substitution - Missense 20:45815867-45815867 + TCGA-43-5668-01 COSM724441 c.387G>T p.R129S Substitution - Missense 20:45815711-45815711 + TCGA-AX-A0J1-01 COSM1027284 c.246G>A p.S82S Substitution - coding silent 20:45815570-45815570 + BD72T COSM5513630 c.102-9delT p.? Unknown 20:45813428-45813428 + RK044_C01 COSM1632316 c.358G>T p.E120* Substitution - Nonsense 20:45815682-45815682 + GCT07 COSM5749165 c.404T>C p.I135T Substitution - Missense 20:45815728-45815728 + PTC-14C COSM4134588 c.112G>C p.E38Q Substitution - Missense 20:45813447-45813447 + SWE-52 COSM1180321 c.459C>A p.A153A Substitution - coding silent 20:45815891-45815891 + TCGA-GN-A266-06 COSM3547090 c.159C>T p.F53F Substitution - coding silent 20:45814413-45814413 + TARGET-30-PASRFS COSM1288799 c.70delG p.G25fs*15 Deletion - Frameshift 20:45812765-45812765 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.92993;Hs.93002 20q13.12 605574

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.537+98A>G 20 44445501 HC A G SpliceAcceptorSNV . c.102-2A>G 20 44442074 BLCA C A IntronicSNV . c.217-25C>A 20 44444155 STAD C T 3-UTRSNV . c.537+47C>T 20 44445450 CM C T IntronicSNV . c.102-57C>T 20 44442019 CM C T IntronicSNV . c.217-40C>T 20 44444140 UCEC C T Synonymous p.F98F c.294C>T 20 44444257 CM C T Synonymous p.L118L c.352C>T 20 44444315 CM C T Synonymous p.N158N c.474C>T 20 44444545 CM G A Synonymous p.A93A c.279G>A 20 44444242 STAD G A Synonymous p.T100T c.300G>A 20 44444263 LUSC G - Frameshift p.G25Afs*15 c.74delG 20 44441404 NB G T Missense p.R129S c.387G>T 20 44444350 LUSC T C Missense p.S171P c.511T>C 20 44445377 HC