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 22 35947615 35947615 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr22:35947615C>T c.337C>T c.(337-339)Cag>Tag p.Q113* BLCA 22 35947630 35947630 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr22:35947630G>C c.352G>C c.(352-354)Gag>Cag p.E118Q BLCA 22 35947637 35947637 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr22:35947637A>G c.359A>G c.(358-360)aAg>aGg p.K120R BLCA 22 35947785 35947785 + Silent SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:35947785C>T c.507C>T c.(505-507)ttC>ttT p.F169F BRCA 22 35943080 35943080 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr22:35943080C>T c.224C>T c.(223-225)tCt>tTt p.S75F BRCA 22 35943099 35943099 + Silent SNP C C T TCGA-D8-A1JH-01A-11D-A188-09 TCGA-D8-A1JH-10A-01D-A13O-09 g.chr22:35943099C>T c.243C>T c.(241-243)ccC>ccT p.P81P CESC 22 35947704 35947704 + Silent SNP C C T TCGA-Q1-A5R1-01A-11D-A28B-09 TCGA-Q1-A5R1-10A-01D-A28E-09 g.chr22:35947704C>T c.426C>T c.(424-426)aaC>aaT p.N142N COAD 22 35942902 35942902 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:35942902G>A c.46G>A c.(46-48)Gcc>Acc p.A16T COAD 22 35947671 35947671 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr22:35947671G>A c.393G>A c.(391-393)gcG>gcA p.A131A COAD 22 35947834 35947834 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:35947834C>T c.556C>T c.(556-558)Ctc>Ttc p.L186F COADREAD 22 35942902 35942902 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:35942902G>A c.46G>A c.(46-48)Gcc>Acc p.A16T COADREAD 22 35947671 35947671 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr22:35947671G>A c.393G>A c.(391-393)gcG>gcA p.A131A COADREAD 22 35947724 35947724 + Missense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr22:35947724G>A c.446G>A c.(445-447)cGc>cAc p.R149H COADREAD 22 35947834 35947834 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:35947834C>T c.556C>T c.(556-558)Ctc>Ttc p.L186F GBMLGG 22 35947819 35947819 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35947819G>A c.541G>A c.(541-543)Gag>Aag p.E181K GBMLGG 22 35947956 35947956 + Silent SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 g.chr22:35947956C>T c.678C>T c.(676-678)gaC>gaT p.D226D GBMLGG 22 35948047 35948047 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35948047G>A c.769G>A c.(769-771)Gcc>Acc p.A257T HNSC 22 35947786 35947786 + Nonsense_Mutation SNP G G T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr22:35947786G>T c.508G>T c.(508-510)Gag>Tag p.E170* HNSC 22 35947937 35947937 + Missense_Mutation SNP G G T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr22:35947937G>T c.659G>T c.(658-660)cGc>cTc p.R220L LGG 22 35947819 35947819 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35947819G>A c.541G>A c.(541-543)Gag>Aag p.E181K LGG 22 35947956 35947956 + Silent SNP C C T TCGA-HT-7608-01A-11D-2086-08 TCGA-HT-7608-10A-01D-2086-08 g.chr22:35947956C>T c.678C>T c.(676-678)gaC>gaT p.D226D LGG 22 35948047 35948047 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:35948047G>A c.769G>A c.(769-771)Gcc>Acc p.A257T LIHC 22 35942929 35942929 + Missense_Mutation SNP C C G TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr22:35942929C>G c.73C>G c.(73-75)Ctg>Gtg p.L25V LIHC 22 35947948 35947948 + Missense_Mutation SNP G G A TCGA-EP-A3JL-01A-11D-A20W-10 TCGA-EP-A3JL-10A-01D-A20W-10 g.chr22:35947948G>A c.670G>A c.(670-672)Gag>Aag p.E224K LIHC 22 35948024 35948024 + Missense_Mutation SNP C C A TCGA-DD-AACK-01A-11D-A40R-10 TCGA-DD-AACK-10A-01D-A40U-10 g.chr22:35948024C>A c.746C>A c.(745-747)gCc>gAc p.A249D LUAD 22 35943106 35943106 + Missense_Mutation SNP C C A TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr22:35943106C>A c.250C>A c.(250-252)Cgc>Agc p.R84S LUAD 22 35947590 35947590 + Missense_Mutation SNP G G T TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr22:35947590G>T c.312G>T c.(310-312)gaG>gaT p.E104D LUAD 22 35947786 35947786 + Nonsense_Mutation SNP G G T TCGA-17-Z005-01A-01W-0746-08 TCGA-17-Z005-11A-01W-0746-08 g.chr22:35947786G>T c.508G>T c.(508-510)Gag>Tag p.E170* LUAD 22 35947895 35947895 + Missense_Mutation SNP T T A TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr22:35947895T>A c.617T>A c.(616-618)gTg>gAg p.V206E LUAD 22 35947909 35947909 + Missense_Mutation SNP G G C TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr22:35947909G>C c.631G>C c.(631-633)Gcc>Ccc p.A211P LUSC 22 35942906 35942906 + Missense_Mutation SNP A A C TCGA-46-6025-01A-11D-1817-08 TCGA-46-6025-10A-01D-1817-08 g.chr22:35942906A>C c.50A>C c.(49-51)aAa>aCa p.K17T LUSC 22 35942983 35942983 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr22:35942983C>T c.127C>T c.(127-129)Cgc>Tgc p.R43C LUSC 22 35943063 35943063 + Silent SNP C C G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr22:35943063C>G c.207C>G c.(205-207)ctC>ctG p.L69L LUSC 22 35943073 35943073 + Missense_Mutation SNP G G T TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr22:35943073G>T c.217G>T c.(217-219)Gat>Tat p.D73Y LUSC 22 35948035 35948035 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr22:35948035C>T c.757C>T c.(757-759)Cgg>Tgg p.R253W OV 22 35947653 35947653 + Missense_Mutation SNP C C G TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr22:35947653C>G c.375C>G c.(373-375)aaC>aaG p.N125K PAAD 22 35947670 35947670 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:35947670C>T c.392C>T c.(391-393)gCg>gTg p.A131V READ 22 35947724 35947724 + Missense_Mutation SNP G G A TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr22:35947724G>A c.446G>A c.(445-447)cGc>cAc p.R149H SKCM 22 35943021 35943021 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 g.chr22:35943021C>T c.165C>T c.(163-165)ttC>ttT p.F55F SKCM 22 35943045 35943045 + Silent SNP C C G TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr22:35943045C>G c.189C>G c.(187-189)cgC>cgG p.R63R SKCM 22 35943078 35943078 + Silent SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr22:35943078C>T c.222C>T c.(220-222)acC>acT p.T74T SKCM 22 35947550 35947550 + Splice_Site SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr22:35947550G>A c.272G>A c.(271-273)gGg>gAg p.G91E SKCM 22 35947564 35947564 + Silent SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr22:35947564C>T c.286C>T c.(286-288)Ctg>Ttg p.L96L SKCM 22 35947611 35947611 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr22:35947611C>T c.333C>T c.(331-333)cgC>cgT p.R111R SKCM 22 35947656 35947656 + Silent SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr22:35947656G>A c.378G>A c.(376-378)aaG>aaA p.K126K SKCM 22 35947680 35947680 + Silent SNP C C T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr22:35947680C>T c.402C>T c.(400-402)ccC>ccT p.P134P SKCM 22 35947705 35947705 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr22:35947705G>A c.427G>A c.(427-429)Gac>Aac p.D143N SKCM 22 35947777 35947777 + Missense_Mutation SNP G G C TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr22:35947777G>C c.499G>C c.(499-501)Gcc>Ccc p.A167P SKCM 22 35947785 35947785 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:35947785C>T c.507C>T c.(505-507)ttC>ttT p.F169F SKCM 22 35947882 35947882 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:35947882C>T c.604C>T c.(604-606)Cgc>Tgc p.R202C SKCM 22 35947882 35947882 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:35947882C>T c.604C>T c.(604-606)Cgc>Tgc p.R202C SKCM 22 35947954 35947954 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr22:35947954G>A c.676G>A c.(676-678)Gac>Aac p.D226N SKCM 22 35947969 35947969 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:35947969G>A c.691G>A c.(691-693)Gtc>Atc p.V231I

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 22 35947615 35947615 single base substitution C T stop_gained Q113* 337C>T BLCA-US 22 35947637 35947637 single base substitution A G missense_variant K120R 359A>G BOCA-FR 22 35934509 35934509 single base substitution G T upstream_gene_variant BRCA-EU 22 35932560 35932560 single base substitution G C upstream_gene_variant BRCA-EU 22 35932564 35932564 single base substitution G T upstream_gene_variant BRCA-EU 22 35933830 35933830 single base substitution A C upstream_gene_variant BRCA-EU 22 35935610 35935610 single base substitution C T upstream_gene_variant BRCA-EU 22 35939214 35939214 single base substitution T A intron_variant BRCA-EU 22 35939707 35939707 single base substitution C T intron_variant BRCA-EU 22 35939925 35939925 single base substitution G C intron_variant BRCA-EU 22 35940066 35940066 single base substitution C T intron_variant BRCA-EU 22 35940077 35940077 single base substitution G A intron_variant BRCA-EU 22 35940540 35940540 single base substitution G C intron_variant BRCA-EU 22 35941285 35941285 single base substitution G A intron_variant BRCA-EU 22 35941903 35941903 single base substitution T C intron_variant BRCA-EU 22 35943943 35943943 single base substitution C A intron_variant BRCA-EU 22 35946302 35946302 single base substitution C T intron_variant BRCA-EU 22 35947383 35947383 single base substitution A G intron_variant BRCA-EU 22 35951182 35951182 single base substitution G C downstream_gene_variant BRCA-EU 22 35951317 35951317 single base substitution C T downstream_gene_variant BRCA-EU 22 35951875 35951875 single base substitution C T downstream_gene_variant BRCA-EU 22 35952840 35952840 single base substitution C A downstream_gene_variant BRCA-EU 22 35954789 35954789 single base substitution G C downstream_gene_variant BRCA-FR 22 35935610 35935610 single base substitution C T upstream_gene_variant BRCA-FR 22 35939707 35939707 single base substitution C T intron_variant BRCA-FR 22 35940540 35940540 single base substitution G C intron_variant BRCA-FR 22 35941285 35941285 single base substitution G A intron_variant BRCA-FR 22 35953407 35953407 single base substitution C T downstream_gene_variant BRCA-US 22 35943080 35943080 single base substitution C T missense_variant S75F 224C>T BRCA-US 22 35943099 35943099 single base substitution C T synonymous_variant P81P 243C>T CESC-US 22 35947704 35947704 single base substitution C T synonymous_variant N142N 426C>T COAD-US 22 35947893 35947893 single base substitution C A synonymous_variant S205S 615C>A COCA-CN 22 35943064 35943064 single base substitution G A missense_variant D70N 208G>A EOPC-DE 22 35943450 35943450 single base substitution G A intron_variant ESAD-UK 22 35933641 35933641 single base substitution T C upstream_gene_variant ESAD-UK 22 35934473 35934473 single base substitution G A upstream_gene_variant ESAD-UK 22 35935475 35935475 single base substitution G A upstream_gene_variant ESAD-UK 22 35937533 35937533 single base substitution G A 5_prime_UTR_variant ESAD-UK 22 35939252 35939252 single base substitution G A intron_variant ESAD-UK 22 35939798 35939798 single base substitution C A intron_variant ESAD-UK 22 35940826 35940826 single base substitution A T intron_variant ESAD-UK 22 35942049 35942049 single base substitution T A intron_variant ESAD-UK 22 35942365 35942365 single base substitution C T intron_variant ESAD-UK 22 35942372 35942372 single base substitution A G intron_variant ESAD-UK 22 35943544 35943544 single base substitution G A intron_variant ESAD-UK 22 35943754 35943754 single base substitution C A intron_variant ESAD-UK 22 35945460 35945460 single base substitution G C intron_variant ESAD-UK 22 35950823 35950823 single base substitution G A downstream_gene_variant ESAD-UK 22 35953952 35953952 single base substitution C T downstream_gene_variant ESCA-CN 22 35947704 35947704 single base substitution C T synonymous_variant N142N 426C>T LGG-US 22 35947956 35947956 single base substitution C T synonymous_variant D226D 678C>T LICA-CN 22 35942945 35942945 single base substitution T A missense_variant V30E 89T>A LICA-FR 22 35932648 35932648 single base substitution A G upstream_gene_variant LICA-FR 22 35937577 35937577 single base substitution C T intron_variant LICA-FR 22 35938699 35938699 single base substitution A G intron_variant LIHC-US 22 35942929 35942929 single base substitution C G missense_variant L25V 73C>G LIHC-US 22 35947948 35947948 single base substitution G A missense_variant E224K 670G>A LINC-JP 22 35942805 35942805 single base substitution G A intron_variant LINC-JP 22 35948022 35948022 single base substitution G A synonymous_variant K248K 744G>A LINC-JP 22 35952417 35952417 single base substitution T C downstream_gene_variant LIRI-JP 22 35934183 35934183 single base substitution T C upstream_gene_variant LIRI-JP 22 35937888 35937888 single base substitution G A intron_variant LIRI-JP 22 35939798 35939798 single base substitution C G intron_variant LIRI-JP 22 35941703 35941703 single base substitution A T intron_variant LIRI-JP 22 35943073 35943073 single base substitution G T missense_variant D73Y 217G>T LIRI-JP 22 35943884 35943884 single base substitution A G intron_variant LIRI-JP 22 35946190 35946190 single base substitution A G intron_variant LIRI-JP 22 35946946 35946946 single base substitution C T intron_variant LIRI-JP 22 35947314 35947314 single base substitution G A intron_variant LIRI-JP 22 35947345 35947345 single base substitution C T intron_variant LIRI-JP 22 35950126 35950126 single base substitution T C downstream_gene_variant LIRI-JP 22 35951196 35951196 single base substitution C T downstream_gene_variant LIRI-JP 22 35952763 35952763 single base substitution G T downstream_gene_variant LUSC-KR 22 35932047 35932047 single base substitution C T upstream_gene_variant LUSC-KR 22 35933483 35933483 single base substitution C T upstream_gene_variant LUSC-KR 22 35937904 35937904 single base substitution C T intron_variant LUSC-KR 22 35943429 35943429 single base substitution T A intron_variant LUSC-KR 22 35947946 35947946 single base substitution A T missense_variant K223M 668A>T LUSC-US 22 35942906 35942906 single base substitution A C missense_variant K17T 50A>C LUSC-US 22 35942983 35942983 single base substitution C T missense_variant R43C 127C>T LUSC-US 22 35943063 35943063 single base substitution C G synonymous_variant L69L 207C>G LUSC-US 22 35943073 35943073 single base substitution G T missense_variant D73Y 217G>T LUSC-US 22 35948035 35948035 single base substitution C T missense_variant R253W 757C>T MALY-DE 22 35932773 35932773 single base substitution C G upstream_gene_variant MALY-DE 22 35941816 35941816 single base substitution C T intron_variant MALY-DE 22 35945662 35945662 single base substitution C T intron_variant MALY-DE 22 35946740 35946740 single base substitution G A intron_variant MALY-DE 22 35947717 35947717 single base substitution C A missense_variant L147M 439C>A MELA-AU 22 35932843 35932843 single base substitution T C upstream_gene_variant MELA-AU 22 35932977 35932977 single base substitution C T upstream_gene_variant MELA-AU 22 35933291 35933291 single base substitution C G upstream_gene_variant MELA-AU 22 35933374 35933374 single base substitution T C upstream_gene_variant MELA-AU 22 35933498 35933498 single base substitution G A upstream_gene_variant MELA-AU 22 35933630 35933630 single base substitution G A upstream_gene_variant MELA-AU 22 35933696 35933696 single base substitution G A upstream_gene_variant MELA-AU 22 35933913 35933913 single base substitution G C upstream_gene_variant MELA-AU 22 35933927 35933927 single base substitution G A upstream_gene_variant MELA-AU 22 35933970 35933971 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 35934461 35934461 single base substitution G A upstream_gene_variant MELA-AU 22 35934560 35934560 single base substitution C T upstream_gene_variant MELA-AU 22 35935673 35935673 single base substitution G A upstream_gene_variant MELA-AU 22 35935997 35935997 single base substitution C T upstream_gene_variant MELA-AU 22 35936097 35936097 single base substitution C T upstream_gene_variant MELA-AU 22 35936682 35936682 single base substitution G A upstream_gene_variant MELA-AU 22 35937547 35937548 multiple base substitution (>=2bp and <=200bp) GG AT intragenic_variant MELA-AU 22 35937547 35937548 multiple base substitution (>=2bp and <=200bp) GG AT splice_donor_variant MELA-AU 22 35937852 35937852 single base substitution G A intron_variant MELA-AU 22 35938312 35938312 single base substitution C T intron_variant MELA-AU 22 35938752 35938752 single base substitution G A intron_variant MELA-AU 22 35939806 35939806 single base substitution C T intron_variant MELA-AU 22 35940021 35940021 single base substitution C T intron_variant MELA-AU 22 35940176 35940177 multiple base substitution (>=2bp and <=200bp) GC AA intron_variant MELA-AU 22 35940283 35940284 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 35940484 35940484 single base substitution C T intron_variant MELA-AU 22 35940672 35940672 single base substitution G A intron_variant MELA-AU 22 35941458 35941458 single base substitution T C intron_variant MELA-AU 22 35941478 35941478 single base substitution C T intron_variant MELA-AU 22 35941496 35941496 single base substitution C T intron_variant MELA-AU 22 35941603 35941603 single base substitution C T intron_variant MELA-AU 22 35942091 35942091 single base substitution C T intron_variant MELA-AU 22 35942348 35942348 single base substitution G A intron_variant MELA-AU 22 35942369 35942369 single base substitution C T intron_variant MELA-AU 22 35942439 35942439 single base substitution C T intron_variant MELA-AU 22 35942579 35942579 single base substitution G A intron_variant MELA-AU 22 35942625 35942625 single base substitution G A intron_variant MELA-AU 22 35942636 35942637 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 22 35942715 35942715 single base substitution C T intron_variant MELA-AU 22 35942901 35942901 single base substitution C T synonymous_variant P15P 45C>T MELA-AU 22 35942904 35942904 single base substitution C A synonymous_variant A16A 48C>A MELA-AU 22 35942941 35942941 single base substitution C T missense_variant R29W 85C>T MELA-AU 22 35943025 35943025 single base substitution C T missense_variant R57C 169C>T MELA-AU 22 35943329 35943329 single base substitution C T intron_variant MELA-AU 22 35943396 35943396 single base substitution G A intron_variant MELA-AU 22 35943616 35943616 single base substitution G A intron_variant MELA-AU 22 35943878 35943878 single base substitution G A intron_variant MELA-AU 22 35944308 35944308 single base substitution G A intron_variant MELA-AU 22 35944494 35944494 single base substitution T C intron_variant MELA-AU 22 35944767 35944767 single base substitution G A intron_variant MELA-AU 22 35944812 35944812 single base substitution C T intron_variant MELA-AU 22 35944835 35944835 single base substitution C T intron_variant MELA-AU 22 35946108 35946108 single base substitution G C intron_variant MELA-AU 22 35946136 35946136 single base substitution C A intron_variant MELA-AU 22 35946268 35946268 single base substitution C T intron_variant MELA-AU 22 35946279 35946279 single base substitution C T intron_variant MELA-AU 22 35946312 35946312 single base substitution G A intron_variant MELA-AU 22 35946360 35946360 single base substitution C T intron_variant MELA-AU 22 35946861 35946861 single base substitution A T intron_variant MELA-AU 22 35947174 35947174 single base substitution G A intron_variant MELA-AU 22 35947222 35947222 single base substitution C T intron_variant MELA-AU 22 35947347 35947347 single base substitution C T intron_variant MELA-AU 22 35947396 35947396 single base substitution C T intron_variant MELA-AU 22 35947892 35947892 single base substitution C T missense_variant S205F 614C>T MELA-AU 22 35948035 35948035 single base substitution C T missense_variant R253W 757C>T MELA-AU 22 35948373 35948373 single base substitution G A 3_prime_UTR_variant MELA-AU 22 35948449 35948449 single base substitution G A 3_prime_UTR_variant MELA-AU 22 35948711 35948711 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35948716 35948716 single base substitution C T 3_prime_UTR_variant MELA-AU 22 35949274 35949274 single base substitution A C 3_prime_UTR_variant MELA-AU 22 35949300 35949300 single base substitution G A 3_prime_UTR_variant MELA-AU 22 35949410 35949410 single base substitution G C 3_prime_UTR_variant MELA-AU 22 35949427 35949427 single base substitution A G 3_prime_UTR_variant MELA-AU 22 35950127 35950127 single base substitution C T downstream_gene_variant MELA-AU 22 35950223 35950223 single base substitution G A downstream_gene_variant MELA-AU 22 35950234 35950234 single base substitution C A downstream_gene_variant MELA-AU 22 35950299 35950299 single base substitution G A downstream_gene_variant MELA-AU 22 35950432 35950432 single base substitution G A downstream_gene_variant MELA-AU 22 35950804 35950804 single base substitution C T downstream_gene_variant MELA-AU 22 35951104 35951104 single base substitution T C downstream_gene_variant MELA-AU 22 35951112 35951112 single base substitution G A downstream_gene_variant MELA-AU 22 35951186 35951186 single base substitution C T downstream_gene_variant MELA-AU 22 35951257 35951257 single base substitution C T downstream_gene_variant MELA-AU 22 35951286 35951286 single base substitution C T downstream_gene_variant MELA-AU 22 35951306 35951306 single base substitution G A downstream_gene_variant MELA-AU 22 35951388 35951388 single base substitution C T downstream_gene_variant MELA-AU 22 35951558 35951558 single base substitution C T downstream_gene_variant MELA-AU 22 35951680 35951680 single base substitution C T downstream_gene_variant MELA-AU 22 35951999 35951999 single base substitution G A downstream_gene_variant MELA-AU 22 35952307 35952307 single base substitution G A downstream_gene_variant MELA-AU 22 35952362 35952362 single base substitution C T downstream_gene_variant MELA-AU 22 35952428 35952428 single base substitution G A downstream_gene_variant MELA-AU 22 35952750 35952751 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 35952957 35952957 single base substitution C T downstream_gene_variant MELA-AU 22 35953408 35953408 single base substitution G A downstream_gene_variant MELA-AU 22 35953793 35953793 single base substitution G A downstream_gene_variant MELA-AU 22 35953821 35953821 single base substitution G A downstream_gene_variant MELA-AU 22 35953927 35953927 single base substitution G A downstream_gene_variant MELA-AU 22 35954099 35954099 single base substitution A T downstream_gene_variant MELA-AU 22 35954160 35954160 single base substitution G A downstream_gene_variant MELA-AU 22 35954244 35954244 single base substitution C T downstream_gene_variant MELA-AU 22 35954806 35954806 single base substitution C T downstream_gene_variant ORCA-IN 22 35939849 35939869 deletion of <=200bp TTGCCTCCTCTCTCTGACTCT - intron_variant ORCA-IN 22 35942275 35942275 single base substitution G A intron_variant ORCA-IN 22 35947744 35947744 single base substitution G T missense_variant A156S 466G>T ORCA-IN 22 35947894 35947894 single base substitution G A missense_variant V206M 616G>A OV-AU 22 35934219 35934219 single base substitution A G upstream_gene_variant OV-AU 22 35935386 35935386 single base substitution G T upstream_gene_variant OV-AU 22 35936394 35936394 single base substitution C T upstream_gene_variant OV-AU 22 35939144 35939144 single base substitution G A intron_variant OV-AU 22 35941557 35941557 single base substitution C T intron_variant OV-AU 22 35942752 35942752 single base substitution G T intron_variant OV-AU 22 35943595 35943595 single base substitution A T intron_variant OV-AU 22 35945330 35945330 single base substitution C T intron_variant OV-AU 22 35953161 35953161 single base substitution C T downstream_gene_variant PACA-AU 22 35933178 35933178 single base substitution C T upstream_gene_variant PACA-AU 22 35934627 35934627 single base substitution G A upstream_gene_variant PACA-AU 22 35940748 35940748 single base substitution G A intron_variant PACA-AU 22 35940989 35940989 single base substitution C T intron_variant PACA-AU 22 35942554 35942554 single base substitution G A intron_variant PACA-AU 22 35947714 35947714 single base substitution G A missense_variant E146K 436G>A PACA-AU 22 35952293 35952293 single base substitution C T downstream_gene_variant PACA-AU 22 35953011 35953011 single base substitution G A downstream_gene_variant PACA-CA 22 35937478 35937478 single base substitution C T 5_prime_UTR_variant PACA-CA 22 35937551 35937551 single base substitution G A intron_variant PACA-CA 22 35938659 35938659 single base substitution G A intron_variant PACA-CA 22 35942955 35942955 single base substitution C A missense_variant S33R 99C>A PACA-CA 22 35944518 35944518 single base substitution G A intron_variant PACA-CA 22 35947597 35947597 single base substitution G A missense_variant D107N 319G>A PACA-CA 22 35947670 35947670 single base substitution C T missense_variant A131V 392C>T PACA-CA 22 35947872 35947872 single base substitution C T synonymous_variant P198P 594C>T PACA-CA 22 35949936 35949936 single base substitution A G 3_prime_UTR_variant PAEN-IT 22 35952443 35952443 single base substitution G A downstream_gene_variant PBCA-DE 22 35932590 35932590 single base substitution T C upstream_gene_variant PBCA-DE 22 35944412 35944412 single base substitution C T intron_variant PRAD-UK 22 35950091 35950091 single base substitution G A downstream_gene_variant READ-US 22 35947710 35947710 single base substitution C T synonymous_variant H144H 432C>T READ-US 22 35947724 35947724 single base substitution G A missense_variant R149H 446G>A RECA-EU 22 35940579 35940579 single base substitution C T intron_variant RECA-EU 22 35952557 35952557 single base substitution C G downstream_gene_variant SKCA-BR 22 35932019 35932019 single base substitution T G upstream_gene_variant SKCA-BR 22 35933996 35933997 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 22 35937305 35937305 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 35937969 35937969 single base substitution G A intron_variant SKCA-BR 22 35938438 35938438 single base substitution A T intron_variant SKCA-BR 22 35938787 35938787 single base substitution C A intron_variant SKCA-BR 22 35940425 35940425 single base substitution C T intron_variant SKCA-BR 22 35943302 35943302 single base substitution G C intron_variant SKCA-BR 22 35943544 35943544 single base substitution G T intron_variant SKCA-BR 22 35947196 35947196 single base substitution G A intron_variant SKCA-BR 22 35947564 35947564 single base substitution C T synonymous_variant L96L 286C>T SKCA-BR 22 35947866 35947866 single base substitution G A missense_variant M196I 588G>A SKCA-BR 22 35948960 35948960 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 35949858 35949858 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 35952224 35952224 single base substitution C T downstream_gene_variant SKCA-BR 22 35954363 35954363 single base substitution A C downstream_gene_variant SKCM-US 22 35943021 35943021 single base substitution C T synonymous_variant F55F 165C>T SKCM-US 22 35943045 35943045 single base substitution C G synonymous_variant R63R 189C>G SKCM-US 22 35943078 35943078 single base substitution C T synonymous_variant T74T 222C>T SKCM-US 22 35947550 35947550 single base substitution G A missense_variant G91E 272G>A SKCM-US 22 35947564 35947564 single base substitution C T synonymous_variant L96L 286C>T SKCM-US 22 35947611 35947611 single base substitution C T synonymous_variant R111R 333C>T SKCM-US 22 35947656 35947656 single base substitution G A synonymous_variant K126K 378G>A SKCM-US 22 35947680 35947680 single base substitution C T synonymous_variant P134P 402C>T SKCM-US 22 35947705 35947705 single base substitution G A missense_variant D143N 427G>A SKCM-US 22 35947777 35947777 single base substitution G C missense_variant A167P 499G>C SKCM-US 22 35947785 35947785 single base substitution C T synonymous_variant F169F 507C>T SKCM-US 22 35947882 35947882 single base substitution C T missense_variant R202C 604C>T SKCM-US 22 35947954 35947954 single base substitution G A missense_variant D226N 676G>A SKCM-US 22 35947969 35947969 single base substitution G A missense_variant V231I 691G>A STAD-US 22 35943100 35943100 single base substitution G A missense_variant A82T 244G>A STAD-US 22 35947662 35947662 single base substitution G T missense_variant K128N 384G>T STAD-US 22 35947700 35947700 single base substitution A C missense_variant K141T 422A>C STAD-US 22 35947713 35947713 single base substitution C T synonymous_variant G145G 435C>T STAD-US 22 35947862 35947862 single base substitution A G missense_variant E195G 584A>G STAD-US 22 35947942 35947942 single base substitution G A missense_variant V222I 664G>A THCA-SA 22 35937424 35937424 single base substitution G A 5_prime_UTR_variant THCA-US 22 35947855 35947855 single base substitution C T missense_variant P193S 577C>T UCEC-US 22 35943043 35943043 single base substitution C T missense_variant R63C 187C>T UCEC-US 22 35943099 35943099 single base substitution C T synonymous_variant P81P 243C>T UCEC-US 22 35943100 35943100 single base substitution G A missense_variant A82T 244G>A UCEC-US 22 35947597 35947597 single base substitution G A missense_variant D107N 319G>A UCEC-US 22 35947610 35947610 single base substitution G A missense_variant R111H 332G>A UCEC-US 22 35947819 35947819 single base substitution G A missense_variant E181K 541G>A UCEC-US 22 35947831 35947831 single base substitution G A missense_variant V185M 553G>A UCEC-US 22 35947936 35947936 single base substitution C T missense_variant R220C 658C>T UCEC-US 22 35947940 35947940 single base substitution G A missense_variant R221H 662G>A UCEC-US 22 35948032 35948032 single base substitution C A missense_variant L252I 754C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BJ-A2NA-01 COSM3371900 c.577C>T p.P193S Substitution - Missense 22:35551808-35551808 + S02248 COSM5679690 c.695C>A p.S232* Substitution - Nonsense 22:35551926-35551926 + T578 COSM4720443 c.193G>A p.D65N Substitution - Missense 22:35547002-35547002 + Pat_16_A COSM5859271 c.690G>A p.M230I Substitution - Missense 22:35551921-35551921 + T3080 COSM4720444 c.367C>T p.L123L Substitution - coding silent 22:35551598-35551598 + TCGA-GV-A3JZ-01 COSM1308117 c.359A>G p.K120R Substitution - Missense 22:35551590-35551590 + 2492700 COSM5600345 c.461C>T p.T154I Substitution - Missense 22:35551692-35551692 + OSCC-GB_00700111 COSM4890774 c.466G>T p.A156S Substitution - Missense 22:35551697-35551697 + TCGA-EW-A1J5-01 COSM1484198 c.224C>T p.S75F Substitution - Missense 22:35547033-35547033 + TCGA-FW-A3TU-06 COSM3553877 c.676G>A p.D226N Substitution - Missense 22:35551907-35551907 + T3094 COSM4720445 c.680C>T p.A227V Substitution - Missense 22:35551911-35551911 + TCGA-Q1-A5R1-01 COSM2939550 c.426C>T p.N142N Substitution - coding silent 22:35551657-35551657 + 2492701 COSM5600345 c.461C>T p.T154I Substitution - Missense 22:35551692-35551692 + TCGA-EE-A2GS-06 COSM3553874 c.499G>C p.A167P Substitution - Missense 22:35551730-35551730 + HCC063T COSM5812403 c.89T>A p.V30E Substitution - Missense 22:35546898-35546898 + TCGA-D9-A6EC-06 COSM3553876 c.604C>T p.R202C Substitution - Missense 22:35551835-35551835 + BK0057 COSM4188258 c.440T>A p.L147Q Substitution - Missense 22:35551671-35551671 + Gp2D COSM4628025 c.170G>A p.R57H Substitution - Missense 22:35546979-35546979 + TCGA-AP-A059-01 COSM1033761 c.541G>A p.E181K Substitution - Missense 22:35551772-35551772 + TCGA-AA-3821-01 COSM294742 c.46G>A p.A16T Substitution - Missense 22:35546855-35546855 + HDC82 COSM4636701 c.561C>T p.F187F Substitution - coding silent 22:35551792-35551792 + TCGA-HU-A4GH-01 COSM4103773 c.422A>C p.K141T Substitution - Missense 22:35551653-35551653 + 587376 COSM1223207 c.112C>T p.R38C Substitution - Missense 22:35546921-35546921 + 8067182 COSM3785661 c.436G>A p.E146K Substitution - Missense 22:35551667-35551667 + PT44 COSM5927102 c.272-7C>T p.? Unknown 22:35551496-35551496 + TCGA-FS-A1ZK-06 COSM3553871 c.378G>A p.K126K Substitution - coding silent 22:35551609-35551609 + SNU-175 COSM2939545 c.250C>T p.R84C Substitution - Missense 22:35547059-35547059 + LUAD-B00523 COSM355577 c.499G>T p.A167S Substitution - Missense 22:35551730-35551730 + 2492728 COSM5729600 c.272-1G>A p.? Unknown 22:35551502-35551502 + TCGA-D3-A1QB-06 COSM3553866 c.165C>T p.F55F Substitution - coding silent 22:35546974-35546974 + 86570 COSM96176 c.519C>A p.A173A Substitution - coding silent 22:35551750-35551750 + YUKAT COSM5393516 c.312G>A p.E104E Substitution - coding silent 22:35551543-35551543 + J36_T COSM3964247 c.668A>T p.K223M Substitution - Missense 22:35551899-35551899 + I2L-P19Ta-Tumor-Organoid COSM5366440 c.61C>T p.R21C Substitution - Missense 22:35546870-35546870 + TCGA-13-2057-01 COSM1327250 c.375C>G p.N125K Substitution - Missense 22:35551606-35551606 + TCGA-AA-3821-01 COSM5111665 c.128G>A p.R43H Substitution - Missense 22:35546937-35546937 + 476 COSM4438516 c.406G>T p.V136F Substitution - Missense 22:35551637-35551637 + TCGA-51-4079-01 COSM726475 c.217G>T p.D73Y Substitution - Missense 22:35547026-35547026 + 2492703 COSM5600345 c.461C>T p.T154I Substitution - Missense 22:35551692-35551692 + TCGA-EE-A2MR-06 COSM3553875 c.507C>T p.F169F Substitution - coding silent 22:35551738-35551738 + tumor_4107137 COSM3357328 c.439C>A p.L147M Substitution - Missense 22:35551670-35551670 + C086 COSM5538030 c.385G>A p.E129K Substitution - Missense 22:35551616-35551616 + I2L-P19Ta-Tumor-Biopsy COSM5366440 c.61C>T p.R21C Substitution - Missense 22:35546870-35546870 + TCGA-AX-A0J1-01 COSM1033764 c.662G>A p.R221H Substitution - Missense 22:35551893-35551893 + TCGA-D1-A0ZN-01 COSM1033762 c.553G>A p.V185M Substitution - Missense 22:35551784-35551784 + TCGA-D8-A1JH-01 COSM1033757 c.243C>T p.P81P Substitution - coding silent 22:35547052-35547052 + TCGA-ED-A4XI-01 COSM4913265 c.73C>G p.L25V Substitution - Missense 22:35546882-35546882 + TCGA-HT-7608-01 COSM246955 c.678C>T p.D226D Substitution - coding silent 22:35551909-35551909 + PR-2682 COSM246955 c.678C>T p.D226D Substitution - coding silent 22:35551909-35551909 + CSCC-31-T COSM4502501 c.614C>T p.S205F Substitution - Missense 22:35551845-35551845 + PTC-28C COSM4156191 c.307C>A p.R103R Substitution - coding silent 22:35551538-35551538 + T2197 COSM1033759 c.319G>A p.D107N Substitution - Missense 22:35551550-35551550 + TCGA-66-2759-01 COSM726477 c.127C>T p.R43C Substitution - Missense 22:35546936-35546936 + TCGA-ER-A19M-06 COSM3553869 c.286C>T p.L96L Substitution - coding silent 22:35551517-35551517 + 08-P462 COSM4582350 c.624C>T p.Y208Y Substitution - coding silent 22:35551855-35551855 + TCGA-AP-A0LM-01 COSM1033756 c.187C>T p.R63C Substitution - Missense 22:35546996-35546996 + Pat_41_B COSM5859272 c.773G>A p.R258H Substitution - Missense 22:35552004-35552004 + C91 COSM4444854 c.445C>T p.R149C Substitution - Missense 22:35551676-35551676 + TCGA-GF-A6C9-06 COSM4900627 c.222C>T p.T74T Substitution - coding silent 22:35547031-35547031 + TCGA-D7-6518-01 COSM4103772 c.384G>T p.K128N Substitution - Missense 22:35551615-35551615 + ESCC_54 COSM5631515 c.224C>A p.S75Y Substitution - Missense 22:35547033-35547033 + TCGA-EI-6513-01 COSM3424146 c.432C>T p.H144H Substitution - coding silent 22:35551663-35551663 + 2492726 COSM5725206 c.105C>T p.I35I Substitution - coding silent 22:35546914-35546914 + Pat_01_A COSM5859270 c.626G>A p.G209D Substitution - Missense 22:35551857-35551857 + Au4 COSM726474 c.757C>T p.R253W Substitution - Missense 22:35551988-35551988 + TCGA-BR-A4QL-01 COSM1033758 c.244G>A p.A82T Substitution - Missense 22:35547053-35547053 + TCGA-EE-A2ME-06 COSM3553870 c.333C>T p.R111R Substitution - coding silent 22:35551564-35551564 + TCGA-EE-A29V-06 COSM3553872 c.402C>T p.P134P Substitution - coding silent 22:35551633-35551633 + CSCC-7-T COSM4444854 c.445C>T p.R149C Substitution - Missense 22:35551676-35551676 + LUAD-NYU408 COSM374445 c.391G>A p.A131T Substitution - Missense 22:35551622-35551622 + TCGA-18-3409-01 COSM726474 c.757C>T p.R253W Substitution - Missense 22:35551988-35551988 + TCGA-18-3414-01 COSM726476 c.207C>G p.L69L Substitution - coding silent 22:35547016-35547016 + TCGA-AZ-4615-01 COSM3694042 c.615C>A p.S205S Substitution - coding silent 22:35551846-35551846 + TCGA-FW-A3R5-06 COSM3912703 c.691G>A p.V231I Substitution - Missense 22:35551922-35551922 + TCGA-FW-A3TU-06 COSM3553873 c.427G>A p.D143N Substitution - Missense 22:35551658-35551658 + TCGA-D1-A17H-01 COSM1033760 c.332G>A p.R111H Substitution - Missense 22:35551563-35551563 + TCGA-AA-3833-01 COSM5112474 c.631G>A p.A211T Substitution - Missense 22:35551862-35551862 + RKO COSM2939554 c.664G>A p.V222I Substitution - Missense 22:35551895-35551895 + 2492725 COSM5725206 c.105C>T p.I35I Substitution - coding silent 22:35546914-35546914 + 112527 COSM96175 c.36C>G p.L12L Substitution - coding silent 22:35546845-35546845 + TCGA-EE-A3AF-06 COSM3553867 c.189C>G p.R63R Substitution - coding silent 22:35546998-35546998 + TCGA-B5-A0JY-01 COSM1033759 c.319G>A p.D107N Substitution - Missense 22:35551550-35551550 + TCGA-D7-A4YV-01 COSM2939554 c.664G>A p.V222I Substitution - Missense 22:35551895-35551895 + RK125_C01 COSM726475 c.217G>T p.D73Y Substitution - Missense 22:35547026-35547026 + 2492702 COSM5600345 c.461C>T p.T154I Substitution - Missense 22:35551692-35551692 + TCGA-AP-A0LM-01 COSM1033763 c.658C>T p.R220C Substitution - Missense 22:35551889-35551889 + PCSI_0506_Pa_P_526 COSM4808895 c.594C>T p.P198P Substitution - coding silent 22:35551825-35551825 + TCGA-AP-A051-01 COSM1033765 c.754C>A p.L252I Substitution - Missense 22:35551985-35551985 + TCGA-EE-A2MJ-06 COSM3553868 c.272G>A p.G91E Substitution - Missense 22:35551503-35551503 + TCGA-46-6025-01 COSM726478 c.50A>C p.K17T Substitution - Missense 22:35546859-35546859 + BN20T COSM1616412 c.744G>A p.K248K Substitution - coding silent 22:35551975-35551975 + SJHGG003_A COSM4968915 c.33G>A p.T11T Substitution - coding silent 22:35546842-35546842 + TCGA-BR-6452-01 COSM4103775 c.584A>G p.E195G Substitution - Missense 22:35551815-35551815 + TCGA-DK-A3IN-01 COSM3800168 c.337C>T p.Q113* Substitution - Nonsense 22:35551568-35551568 + PCSI_0284_Pa_P_526 COSM1033759 c.319G>A p.D107N Substitution - Missense 22:35551550-35551550 + S02292 COSM5687901 c.739A>G p.I247V Substitution - Missense 22:35551970-35551970 + Pat_01_B COSM5859270 c.626G>A p.G209D Substitution - Missense 22:35551857-35551857 + MZ7-mel COSM21666 c.595G>A p.A199T Substitution - Missense 22:35551826-35551826 + VCB-PH-04T COSM4770654 c.260C>G p.S87C Substitution - Missense 22:35547069-35547069 + ESCC_BICR_036T COSM2939550 c.426C>T p.N142N Substitution - coding silent 22:35551657-35551657 + TCGA-BG-A0MI-01 COSM1033757 c.243C>T p.P81P Substitution - coding silent 22:35547052-35547052 + OSCC-GB_01220111 COSM5955094 c.616G>A p.V206M Substitution - Missense 22:35551847-35551847 + Au2 COSM5600345 c.461C>T p.T154I Substitution - Missense 22:35551692-35551692 + TCGA-EE-A2MR-06 COSM3553876 c.604C>T p.R202C Substitution - Missense 22:35551835-35551835 + TCGA-CI-6624-01 COSM1566465 c.446G>A p.R149H Substitution - Missense 22:35551677-35551677 + 2492724 COSM5725206 c.105C>T p.I35I Substitution - coding silent 22:35546914-35546914 + TCGA-BR-4184-01 COSM4103774 c.435C>T p.G145G Substitution - coding silent 22:35551666-35551666 + BN20 COSM1616412 c.744G>A p.K248K Substitution - coding silent 22:35551975-35551975 + TCGA-EP-A3JL-01 COSM4913862 c.670G>A p.E224K Substitution - Missense 22:35551901-35551901 + Pat_16_B COSM5859271 c.690G>A p.M230I Substitution - Missense 22:35551921-35551921 + TCGA-BS-A0UF-01 COSM1033758 c.244G>A p.A82T Substitution - Missense 22:35547053-35547053 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474711 22q13.1 612842

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K17T c.50A>C 22 35942906 LUSC A G Missense p.K120R c.359A>G 22 35947637 BLCA C A Synonymous p.P50P c.150C>A 22 35943006 LUAD CC TT Missense p.P134L c.401_402delinsTT 22 35947679 CM C G Synonymous p.L69L c.207C>G 22 35943063 LUSC C G Synonymous p.R63R c.189C>G 22 35943045 CM C T 3-UTRSNV . c.798+100C>T 22 35948176 CM C T Missense p.P193S c.577C>T 22 35947855 THCA C T Missense p.R43C c.127C>T 22 35942983 LUSC C T Nonsense p.Q113* c.337C>T 22 35947615 BLCA C T Synonymous p.D226D c.678C>T 22 35947956 LGG C T Synonymous p.F212F c.636C>T 22 35947914 CM C T Synonymous p.F55F c.165C>T 22 35943021 CM C T Synonymous p.P134P c.402C>T 22 35947680 CM C T Synonymous p.P81P c.243C>T 22 35943099 BRCA C T Synonymous p.P81P c.243C>T 22 35943099 UCEC C T Synonymous p.R111R c.333C>T 22 35947611 CM G A Missense p.D70N c.208G>A 22 35943064 CM G A Missense p.G91E c.272G>A 22 35947550 CM G A Missense p.M22I c.66G>A 22 35942922 CM G A Missense p.R111H c.332G>A 22 35947610 UCEC G A Missense p.V185M c.553G>A 22 35947831 UCEC G A Missense p.V251I c.751G>A 22 35948029 CM G A Synonymous p.K126K c.378G>A 22 35947656 CM G C Missense p.A167P c.499G>C 22 35947777 CM G T Missense p.D73Y c.217G>T 22 35943073 LUSC G T Nonsense p.E170* c.508G>T 22 35947786 LUAD T G Synonymous p.L112L c.336T>G 22 35947614 CM