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 BRCA 20 44518963 44518963 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr20:44518963G>A c.668C>T c.(667-669)gCg>gTg p.A223V BRCA 20 44519339 44519339 + Nonsense_Mutation SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:44519339C>A c.292G>T c.(292-294)Gag>Tag p.E98* CESC 20 44517472 44517472 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr20:44517472C>T c.783G>A c.(781-783)agG>agA p.R261R COAD 20 44519048 44519048 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr20:44519048delA c.583delT c.(583-585)tgcfs p.C195fs COAD 20 44519140 44519140 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:44519140C>T c.491G>A c.(490-492)cGg>cAg p.R164Q COADREAD 20 44519048 44519048 + Frame_Shift_Del DEL A A - TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr20:44519048delA c.583delT c.(583-585)tgcfs p.C195fs COADREAD 20 44519140 44519140 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:44519140C>T c.491G>A c.(490-492)cGg>cAg p.R164Q GBM 20 44519558 44519558 + Missense_Mutation SNP G G A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr20:44519558G>A c.73C>T c.(73-75)Cgc>Tgc p.R25C GBMLGG 20 44517457 44517457 + Silent SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 g.chr20:44517457C>T c.798G>A c.(796-798)cgG>cgA p.R266R GBMLGG 20 44519558 44519558 + Missense_Mutation SNP G G A TCGA-32-2491-01A-01D-1353-08 TCGA-32-2491-10A-01D-1353-08 g.chr20:44519558G>A c.73C>T c.(73-75)Cgc>Tgc p.R25C HNSC 20 44517447 44517447 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr20:44517447C>A c.808G>T c.(808-810)Gat>Tat p.D270Y HNSC 20 44518946 44518946 + Missense_Mutation SNP C C A TCGA-BB-A5HZ-01A-21D-A28R-08 TCGA-BB-A5HZ-10A-01D-A28U-08 g.chr20:44518946C>A c.685G>T c.(685-687)Gtg>Ttg p.V229L HNSC 20 44519120 44519120 + Missense_Mutation SNP G G C TCGA-CN-6989-01A-11D-1912-08 TCGA-CN-6989-10A-01D-1912-08 g.chr20:44519120G>C c.511C>G c.(511-513)Ctc>Gtc p.L171V HNSC 20 44519214 44519214 + Silent SNP T T C TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr20:44519214T>C c.417A>G c.(415-417)ccA>ccG p.P139P HNSC 20 44519216 44519216 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 g.chr20:44519216G>C c.415C>G c.(415-417)Cca>Gca p.P139A HNSC 20 44519288 44519288 + Missense_Mutation SNP T T C TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr20:44519288T>C c.343A>G c.(343-345)Atc>Gtc p.I115V HNSC 20 44519404 44519404 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr20:44519404C>A c.227G>T c.(226-228)gGc>gTc p.G76V LGG 20 44517457 44517457 + Silent SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 g.chr20:44517457C>T c.798G>A c.(796-798)cgG>cgA p.R266R LUAD 20 44518888 44518888 + Splice_Site SNP C C G TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr20:44518888C>G c.e1+1 LUSC 20 44517426 44517426 + Nonsense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr20:44517426C>A c.829G>T c.(829-831)Gaa>Taa p.E277* LUSC 20 44519371 44519371 + Missense_Mutation SNP G G A TCGA-21-5787-01A-01D-1632-08 TCGA-21-5787-10A-01D-1632-08 g.chr20:44519371G>A c.260C>T c.(259-261)gCg>gTg p.A87V PAAD 20 44517457 44517457 + Silent SNP C C T TCGA-IB-AAUR-01A-21D-A38G-08 TCGA-IB-AAUR-10A-01D-A38J-08 g.chr20:44517457C>T c.798G>A c.(796-798)cgG>cgA p.R266R PAAD 20 44519145 44519145 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:44519145G>A c.486C>T c.(484-486)cgC>cgT p.R162R SKCM 20 44519216 44519216 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr20:44519216G>A c.415C>T c.(415-417)Cca>Tca p.P139S SKCM 20 44519263 44519263 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr20:44519263G>A c.368C>T c.(367-369)cCc>cTc p.P123L SKCM 20 44519264 44519264 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr20:44519264G>A c.367C>T c.(367-369)Ccc>Tcc p.P123S

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 20 44512531 44512531 single base substitution A G downstream_gene_variant BRCA-EU 20 44516997 44516997 insertion of <=200bp - T downstream_gene_variant BRCA-EU 20 44519130 44519130 single base substitution G C synonymous_variant L167L 501C>G BRCA-EU 20 44519130 44519130 single base substitution G C upstream_gene_variant BRCA-EU 20 44519484 44519484 single base substitution G T missense_variant F49L 147C>A BRCA-EU 20 44519484 44519484 single base substitution G T upstream_gene_variant BRCA-EU 20 44519922 44519922 single base substitution G T 5_prime_UTR_variant BRCA-EU 20 44519922 44519922 single base substitution G T upstream_gene_variant BRCA-EU 20 44520396 44520396 single base substitution C G upstream_gene_variant BRCA-EU 20 44524453 44524453 single base substitution G C upstream_gene_variant BRCA-EU 20 44524671 44524671 single base substitution T G upstream_gene_variant BRCA-FR 20 44519484 44519484 single base substitution G T missense_variant F49L 147C>A BRCA-FR 20 44519484 44519484 single base substitution G T upstream_gene_variant BRCA-KR 20 44522020 44522020 single base substitution G A upstream_gene_variant BRCA-US 20 44518963 44518963 single base substitution G A missense_variant A223V 668C>T BRCA-US 20 44518963 44518963 single base substitution G A missense_variant A51V 152C>T BRCA-US 20 44519339 44519339 single base substitution C A stop_gained E98* 292G>T BRCA-US 20 44519339 44519339 single base substitution C A upstream_gene_variant BRCA-US 20 44520933 44520933 single base substitution C T upstream_gene_variant BRCA-US 20 44521044 44521044 single base substitution A T upstream_gene_variant BRCA-US 20 44521475 44521475 single base substitution A C upstream_gene_variant BRCA-US 20 44521946 44521946 single base substitution A G upstream_gene_variant BTCA-JP 20 44512445 44512445 single base substitution G A downstream_gene_variant BTCA-JP 20 44520261 44520261 single base substitution G A upstream_gene_variant BTCA-JP 20 44522602 44522602 single base substitution C T upstream_gene_variant BTCA-JP 20 44523237 44523237 single base substitution C T upstream_gene_variant CESC-US 20 44512530 44512530 single base substitution G C downstream_gene_variant CESC-US 20 44517472 44517472 single base substitution C T 3_prime_UTR_variant CESC-US 20 44517472 44517472 single base substitution C T synonymous_variant R261R 783G>A CESC-US 20 44520238 44520240 deletion of <=200bp CTG - upstream_gene_variant CESC-US 20 44521502 44521502 single base substitution C T upstream_gene_variant COAD-US 20 44512363 44512363 deletion of <=200bp C - downstream_gene_variant COAD-US 20 44512462 44512462 single base substitution G A downstream_gene_variant COAD-US 20 44512622 44512622 single base substitution G T downstream_gene_variant COAD-US 20 44513649 44513649 deletion of <=200bp A - downstream_gene_variant COAD-US 20 44515322 44515322 single base substitution C T downstream_gene_variant COAD-US 20 44515356 44515356 single base substitution C T downstream_gene_variant COAD-US 20 44519140 44519140 single base substitution C T missense_variant R164Q 491G>A COAD-US 20 44519140 44519140 single base substitution C T upstream_gene_variant COAD-US 20 44520238 44520240 deletion of <=200bp CTG - upstream_gene_variant COAD-US 20 44520944 44520944 deletion of <=200bp C - upstream_gene_variant COAD-US 20 44521414 44521414 single base substitution G A upstream_gene_variant COAD-US 20 44523668 44523668 deletion of <=200bp C - upstream_gene_variant COCA-CN 20 44515220 44515220 deletion of <=200bp G - downstream_gene_variant COCA-CN 20 44516095 44516095 single base substitution C T downstream_gene_variant COCA-CN 20 44516444 44516444 single base substitution A G downstream_gene_variant COCA-CN 20 44517360 44517360 single base substitution T C 3_prime_UTR_variant COCA-CN 20 44517489 44517489 single base substitution G A missense_variant R256C 766C>T COCA-CN 20 44517489 44517489 single base substitution G A synonymous_variant A88A 264C>T COCA-CN 20 44519159 44519159 single base substitution G A missense_variant R158C 472C>T COCA-CN 20 44519159 44519159 single base substitution G A upstream_gene_variant COCA-CN 20 44521386 44521386 single base substitution C T upstream_gene_variant COCA-CN 20 44522002 44522002 single base substitution C A upstream_gene_variant COCA-CN 20 44522761 44522761 single base substitution G T upstream_gene_variant COCA-CN 20 44523248 44523248 single base substitution T C upstream_gene_variant ESAD-UK 20 44516483 44516483 single base substitution T C downstream_gene_variant ESAD-UK 20 44517905 44517905 single base substitution G A intron_variant ESAD-UK 20 44519231 44519231 single base substitution C T missense_variant A134T 400G>A ESAD-UK 20 44519231 44519231 single base substitution C T upstream_gene_variant ESAD-UK 20 44520021 44520021 single base substitution G C upstream_gene_variant ESAD-UK 20 44521164 44521164 single base substitution C T upstream_gene_variant ESAD-UK 20 44521315 44521315 single base substitution C T upstream_gene_variant ESAD-UK 20 44521403 44521403 single base substitution C A upstream_gene_variant ESAD-UK 20 44523710 44523710 single base substitution C G upstream_gene_variant ESCA-CN 20 44512996 44512996 single base substitution C T downstream_gene_variant ESCA-CN 20 44513003 44513003 single base substitution T C downstream_gene_variant ESCA-CN 20 44513289 44513289 single base substitution T C downstream_gene_variant ESCA-CN 20 44516252 44516252 single base substitution G A downstream_gene_variant ESCA-CN 20 44522005 44522005 single base substitution A G upstream_gene_variant ESCA-CN 20 44522642 44522642 single base substitution C G upstream_gene_variant ESCA-CN 20 44523248 44523248 single base substitution T C upstream_gene_variant ESCA-CN 20 44523443 44523443 deletion of <=200bp C - upstream_gene_variant GBM-US 20 44512381 44512381 single base substitution T C downstream_gene_variant GBM-US 20 44519558 44519558 single base substitution G A missense_variant R25C 73C>T GBM-US 20 44519558 44519558 single base substitution G A upstream_gene_variant KIRC-US 20 44515205 44515205 single base substitution A T downstream_gene_variant KIRC-US 20 44515557 44515557 single base substitution G A downstream_gene_variant KIRC-US 20 44521907 44521907 single base substitution T C upstream_gene_variant LAML-KR 20 44522140 44522140 single base substitution G T upstream_gene_variant LICA-FR 20 44517454 44517454 single base substitution C T 3_prime_UTR_variant LICA-FR 20 44517454 44517454 single base substitution C T synonymous_variant L267L 801G>A LICA-FR 20 44519248 44519248 single base substitution G A missense_variant P128L 383C>T LICA-FR 20 44519248 44519248 single base substitution G A upstream_gene_variant LINC-JP 20 44512360 44512360 single base substitution C A downstream_gene_variant LINC-JP 20 44512630 44512630 single base substitution A C downstream_gene_variant LINC-JP 20 44516213 44516213 single base substitution G T downstream_gene_variant LINC-JP 20 44516384 44516384 single base substitution A T downstream_gene_variant LINC-JP 20 44516399 44516399 single base substitution A C downstream_gene_variant LINC-JP 20 44516403 44516403 single base substitution A T downstream_gene_variant LINC-JP 20 44519188 44519188 single base substitution C T missense_variant R148H 443G>A LINC-JP 20 44519188 44519188 single base substitution C T upstream_gene_variant LINC-JP 20 44520238 44520240 deletion of <=200bp CTG - upstream_gene_variant LINC-JP 20 44520260 44520261 deletion of <=200bp TG - upstream_gene_variant LINC-JP 20 44521861 44521861 single base substitution G C upstream_gene_variant LINC-JP 20 44521983 44521983 single base substitution G A upstream_gene_variant LIRI-JP 20 44516526 44516526 single base substitution T A downstream_gene_variant LUSC-KR 20 44520176 44520176 single base substitution C A upstream_gene_variant LUSC-US 20 44515306 44515306 single base substitution G T downstream_gene_variant LUSC-US 20 44517426 44517426 single base substitution C A 3_prime_UTR_variant LUSC-US 20 44517426 44517426 single base substitution C A stop_gained E277* 829G>T LUSC-US 20 44519371 44519371 single base substitution G A missense_variant A87V 260C>T LUSC-US 20 44519371 44519371 single base substitution G A upstream_gene_variant LUSC-US 20 44521454 44521454 single base substitution T G upstream_gene_variant LUSC-US 20 44523469 44523469 single base substitution A G upstream_gene_variant MELA-AU 20 44513246 44513247 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 44513294 44513294 single base substitution C T downstream_gene_variant MELA-AU 20 44514012 44514012 single base substitution T C downstream_gene_variant MELA-AU 20 44515306 44515306 single base substitution G A downstream_gene_variant MELA-AU 20 44515896 44515896 single base substitution G A downstream_gene_variant MELA-AU 20 44515991 44515991 single base substitution G A downstream_gene_variant MELA-AU 20 44516183 44516183 single base substitution G A downstream_gene_variant MELA-AU 20 44516216 44516216 single base substitution C T downstream_gene_variant MELA-AU 20 44517117 44517117 single base substitution G A downstream_gene_variant MELA-AU 20 44518268 44518268 single base substitution T C intron_variant MELA-AU 20 44518664 44518664 single base substitution G A intron_variant MELA-AU 20 44519216 44519216 single base substitution G A missense_variant P139S 415C>T MELA-AU 20 44519216 44519216 single base substitution G A upstream_gene_variant MELA-AU 20 44519564 44519564 single base substitution G A missense_variant P23S 67C>T MELA-AU 20 44519564 44519564 single base substitution G A upstream_gene_variant MELA-AU 20 44519602 44519602 single base substitution G A missense_variant S10L 29C>T MELA-AU 20 44519602 44519602 single base substitution G A upstream_gene_variant MELA-AU 20 44519920 44519920 single base substitution G A 5_prime_UTR_variant MELA-AU 20 44519920 44519920 single base substitution G A upstream_gene_variant MELA-AU 20 44520036 44520036 single base substitution G A upstream_gene_variant MELA-AU 20 44520881 44520881 single base substitution G A upstream_gene_variant MELA-AU 20 44521078 44521078 single base substitution C T upstream_gene_variant MELA-AU 20 44521084 44521084 single base substitution C T upstream_gene_variant MELA-AU 20 44522125 44522125 single base substitution C T upstream_gene_variant MELA-AU 20 44523024 44523024 single base substitution C T upstream_gene_variant MELA-AU 20 44523644 44523644 single base substitution C T upstream_gene_variant MELA-AU 20 44523668 44523668 deletion of <=200bp C - upstream_gene_variant MELA-AU 20 44524177 44524177 single base substitution C T upstream_gene_variant MELA-AU 20 44524334 44524334 single base substitution C T upstream_gene_variant MELA-AU 20 44524469 44524469 single base substitution C T upstream_gene_variant MELA-AU 20 44524672 44524672 single base substitution A T upstream_gene_variant MELA-AU 20 44524875 44524875 single base substitution C T upstream_gene_variant ORCA-IN 20 44520375 44520375 single base substitution C A upstream_gene_variant OV-AU 20 44520068 44520068 single base substitution C A upstream_gene_variant OV-AU 20 44524499 44524499 single base substitution C T upstream_gene_variant PACA-AU 20 44517481 44517481 single base substitution C T 3_prime_UTR_variant PACA-AU 20 44517481 44517481 single base substitution C T synonymous_variant V258V 774G>A PACA-AU 20 44517724 44517724 single base substitution G A intron_variant PACA-AU 20 44518586 44518586 single base substitution C T intron_variant PACA-AU 20 44520713 44520713 deletion of <=200bp G - upstream_gene_variant PACA-AU 20 44523239 44523239 deletion of <=200bp T - upstream_gene_variant PACA-CA 20 44512445 44512445 single base substitution G A downstream_gene_variant PACA-CA 20 44513066 44513066 single base substitution A C downstream_gene_variant PACA-CA 20 44513543 44513543 single base substitution C T downstream_gene_variant PACA-CA 20 44515025 44515025 single base substitution G C downstream_gene_variant PACA-CA 20 44515241 44515241 single base substitution C A downstream_gene_variant PACA-CA 20 44518794 44518794 single base substitution C G intron_variant PACA-CA 20 44519900 44519900 single base substitution A G 5_prime_UTR_variant PACA-CA 20 44519900 44519900 single base substitution A G upstream_gene_variant PACA-CA 20 44519928 44519928 single base substitution C T upstream_gene_variant PACA-CA 20 44520861 44520861 single base substitution C T upstream_gene_variant PRAD-CA 20 44518612 44518612 single base substitution G A intron_variant PRAD-UK 20 44514578 44514578 single base substitution A T downstream_gene_variant PRAD-UK 20 44520130 44520130 single base substitution G A upstream_gene_variant PRAD-US 20 44515342 44515342 single base substitution G A downstream_gene_variant READ-US 20 44520238 44520240 deletion of <=200bp CTG - upstream_gene_variant RECA-EU 20 44512516 44512516 single base substitution C T downstream_gene_variant RECA-EU 20 44513003 44513003 single base substitution T C downstream_gene_variant RECA-EU 20 44519722 44519722 single base substitution C G 5_prime_UTR_variant RECA-EU 20 44519722 44519722 single base substitution C G upstream_gene_variant SKCA-BR 20 44513002 44513002 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 20 44514753 44514753 single base substitution G A downstream_gene_variant SKCA-BR 20 44519205 44519205 single base substitution G A synonymous_variant L142L 426C>T SKCA-BR 20 44519205 44519205 single base substitution G A upstream_gene_variant SKCA-BR 20 44519721 44519721 single base substitution T C 5_prime_UTR_variant SKCA-BR 20 44519721 44519721 single base substitution T C upstream_gene_variant SKCA-BR 20 44520237 44520240 deletion of <=200bp CCTG - upstream_gene_variant SKCM-US 20 44515131 44515131 single base substitution A G downstream_gene_variant SKCM-US 20 44515211 44515211 single base substitution C T downstream_gene_variant SKCM-US 20 44515224 44515224 single base substitution G T downstream_gene_variant SKCM-US 20 44515309 44515309 single base substitution C T downstream_gene_variant SKCM-US 20 44515315 44515315 single base substitution C T downstream_gene_variant SKCM-US 20 44516183 44516183 single base substitution G A downstream_gene_variant SKCM-US 20 44519216 44519216 single base substitution G A missense_variant P139S 415C>T SKCM-US 20 44519216 44519216 single base substitution G A upstream_gene_variant SKCM-US 20 44520573 44520573 single base substitution G A upstream_gene_variant SKCM-US 20 44520618 44520618 single base substitution C T upstream_gene_variant SKCM-US 20 44521472 44521472 single base substitution C T upstream_gene_variant SKCM-US 20 44523713 44523713 single base substitution C T upstream_gene_variant SKCM-US 20 44523714 44523714 single base substitution C T upstream_gene_variant SKCM-US 20 44523740 44523740 single base substitution C T upstream_gene_variant STAD-US 20 44515176 44515176 single base substitution G A downstream_gene_variant STAD-US 20 44515246 44515246 single base substitution C T downstream_gene_variant STAD-US 20 44515671 44515671 single base substitution C T downstream_gene_variant STAD-US 20 44519034 44519034 single base substitution A T missense_variant D199E 597T>A STAD-US 20 44519034 44519034 single base substitution A T missense_variant D27E 81T>A STAD-US 20 44519036 44519036 single base substitution C T missense_variant D199N 595G>A STAD-US 20 44519036 44519036 single base substitution C T missense_variant D27N 79G>A STAD-US 20 44519149 44519149 single base substitution C T missense_variant G161D 482G>A STAD-US 20 44519149 44519149 single base substitution C T upstream_gene_variant STAD-US 20 44519175 44519175 single base substitution A C missense_variant F152L 456T>G STAD-US 20 44519175 44519175 single base substitution A C upstream_gene_variant STAD-US 20 44519401 44519401 single base substitution C T stop_gained W77* 230G>A STAD-US 20 44519401 44519401 single base substitution C T upstream_gene_variant STAD-US 20 44521441 44521441 single base substitution G A upstream_gene_variant STAD-US 20 44521890 44521890 single base substitution A G upstream_gene_variant STAD-US 20 44523668 44523668 deletion of <=200bp C - upstream_gene_variant STAD-US 20 44523668 44523668 insertion of <=200bp - C upstream_gene_variant THCA-SA 20 44519585 44519585 single base substitution G T missense_variant L16I 46C>A THCA-SA 20 44519585 44519585 single base substitution G T upstream_gene_variant THCA-US 20 44515629 44515629 single base substitution T C downstream_gene_variant THCA-US 20 44520006 44520006 insertion of <=200bp - T upstream_gene_variant UCEC-US 20 44512485 44512485 single base substitution G A downstream_gene_variant UCEC-US 20 44516213 44516213 single base substitution G T downstream_gene_variant UCEC-US 20 44517426 44517426 single base substitution C A 3_prime_UTR_variant UCEC-US 20 44517426 44517426 single base substitution C A stop_gained E277* 829G>T UCEC-US 20 44517457 44517457 single base substitution C T 3_prime_UTR_variant UCEC-US 20 44517457 44517457 single base substitution C T synonymous_variant R266R 798G>A UCEC-US 20 44518990 44518990 single base substitution C T missense_variant G214D 641G>A UCEC-US 20 44518990 44518990 single base substitution C T missense_variant G42D 125G>A UCEC-US 20 44520238 44520240 deletion of <=200bp CTG - upstream_gene_variant UCEC-US 20 44520657 44520657 single base substitution C T upstream_gene_variant UCEC-US 20 44521056 44521056 single base substitution T C upstream_gene_variant UCEC-US 20 44521091 44521091 single base substitution G A upstream_gene_variant UCEC-US 20 44521404 44521404 single base substitution G A upstream_gene_variant UCEC-US 20 44521484 44521484 single base substitution G A upstream_gene_variant UCEC-US 20 44522691 44522691 single base substitution G T upstream_gene_variant UCEC-US 20 44523661 44523661 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-S01345 COSM397135 c.117T>A p.S39S Substitution - coding silent 20:45890875-45890875 - TCGA-BR-4369-01 COSM4098908 c.597T>A p.D199E Substitution - Missense 20:45890395-45890395 - TCGA-B5-A0JY-01 COSM1027316 c.798G>A p.R266R Substitution - coding silent 20:45888818-45888818 - Pat_06_B COSM5647875 c.718C>T p.R240C Substitution - Missense 20:45890274-45890274 - SWE-46 COSM1180092 c.732C>A p.L244L Substitution - coding silent 20:45890260-45890260 - H1993 COSM1196868 c.682G>T p.A228S Substitution - Missense 20:45890310-45890310 - TCGA-FP-7829-01 COSM4098912 c.230G>A p.W77* Substitution - Nonsense 20:45890762-45890762 - T2940 COSM4706525 c.494C>A p.P165Q Substitution - Missense 20:45890498-45890498 - CHC2362T COSM4957046 c.383C>T p.P128L Substitution - Missense 20:45890609-45890609 - CSCC-7-T COSM4446662 c.423C>G p.L141L Substitution - coding silent 20:45890569-45890569 - BCM325T COSM4798971 c.801G>A p.L267L Substitution - coding silent 20:45888815-45888815 - TCGA-AC-A23H-01 COSM3841148 c.292G>T p.E98* Substitution - Nonsense 20:45890700-45890700 - TCGA-66-2785-01 COSM724429 c.829G>T p.E277* Substitution - Nonsense 20:45888787-45888787 - HCC85 COSM1615666 c.443G>A p.R148H Substitution - Missense 20:45890549-45890549 - PD4962a COSM5788245 c.501C>G p.L167L Substitution - coding silent 20:45890491-45890491 - 169 COSM3729753 c.118G>A p.G40R Substitution - Missense 20:45890874-45890874 - TCGA-BR-8589-01 COSM4098911 c.456T>G p.F152L Substitution - Missense 20:45890536-45890536 - SW48 COSM3293964 c.306C>A p.P102P Substitution - coding silent 20:45890686-45890686 - TARGET-30-PATEPF COSM1286576 c.719G>T p.R240L Substitution - Missense 20:45890273-45890273 - CHC2362T COSM4957046 c.383C>T p.P128L Substitution - Missense 20:45890609-45890609 - Pat_41_B COSM5857988 c.481G>A p.G161S Substitution - Missense 20:45890511-45890511 - TCGA-CD-8524-01 COSM4098910 c.482G>A p.G161D Substitution - Missense 20:45890510-45890510 - 587342 COSM1217132 c.406A>G p.S136G Substitution - Missense 20:45890586-45890586 - TCGA-21-5787-01 COSM724428 c.260C>T p.A87V Substitution - Missense 20:45890732-45890732 - CRC-03T COSM5451576 c.472C>T p.R158C Substitution - Missense 20:45890520-45890520 - C125 COSM4616802 c.786C>A p.S262R Substitution - Missense 20:45888830-45888830 - ESCC_133 COSM5637682 c.171C>G p.R57R Substitution - coding silent 20:45890821-45890821 - ESCC_162 COSM5647875 c.718C>T p.R240C Substitution - Missense 20:45890274-45890274 - TCGA-32-2491-01 COSM3405153 c.73C>T p.R25C Substitution - Missense 20:45890919-45890919 - HCC85T COSM1615666 c.443G>A p.R148H Substitution - Missense 20:45890549-45890549 - PTC_514 COSM5958523 c.46C>A p.L16I Substitution - Missense 20:45890946-45890946 - TCGA-AX-A0J0-01 COSM724429 c.829G>T p.E277* Substitution - Nonsense 20:45888787-45888787 - ESCC_96 COSM5637682 c.171C>G p.R57R Substitution - coding silent 20:45890821-45890821 - 8052570 COSM3389785 c.774G>A p.V258V Substitution - coding silent 20:45888842-45888842 - LP6005500-DNA_B02 COSM5036671 c.400G>A p.A134T Substitution - Missense 20:45890592-45890592 - TCGA-D5-6540-01 COSM1412101 c.491G>A p.R164Q Substitution - Missense 20:45890501-45890501 - TCGA-BR-6852-01 COSM4098909 c.595G>A p.D199N Substitution - Missense 20:45890397-45890397 - CRC-19T COSM5481599 c.766C>T p.R256C Substitution - Missense 20:45888850-45888850 - LUAD-LIP77 COSM342367 c.478G>T p.V160L Substitution - Missense 20:45890514-45890514 - TCGA-EK-A3GK-01 COSM4853733 c.783G>A p.R261R Substitution - coding silent 20:45888833-45888833 - TCGA-B5-A11E-01 COSM1027317 c.641G>A p.G214D Substitution - Missense 20:45890351-45890351 - TCGA-EE-A20C-06 COSM3547130 c.415C>T p.P139S Substitution - Missense 20:45890577-45890577 - BCM325T COSM4798971 c.801G>A p.L267L Substitution - coding silent 20:45888815-45888815 - CAL33 COSM4603412 c.407_408insA p.S136fs*15 Insertion - Frameshift 20:45890584-45890585 - TCGA-BH-A18G-01 COSM3841147 c.668C>T p.A223V Substitution - Missense 20:45890324-45890324 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517080;Hs.517091;Hs.517094 20q13.12 608597 2435393|CGAP|BC105935|A/G|non-coding||1080|Validated; 2435393|CGAP|BC107485|A/G|non-coding||1080|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.D199E c.597T>A 20 44519034 STAD C A Missense p.D270Y c.808G>T 20 44517447 HNSC C A Missense p.R240L c.719G>T 20 44518912 NB C T Missense p.D199N c.595G>A 20 44519036 STAD G A Missense p.A87V c.260C>T 20 44519371 LUSC G A Missense p.P139S c.415C>T 20 44519216 CM G A Missense p.R25C c.73C>T 20 44519558 GBM G A Synonymous p.P225P c.675C>T 20 44518956 CM G C Missense p.L171V c.511C>G 20 44519120 HNSC G C Missense p.P139A c.415C>G 20 44519216 HNSC T C Missense p.I115V c.343A>G 20 44519288 HNSC T C Synonymous p.P139P c.417A>G 20 44519214 HNSC