Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 20 61869765 61869765 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr20:61869765G>T c.467G>T c.(466-468)cGg>cTg p.R156L ACC 20 61869820 61869820 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr20:61869820G>T c.522G>T c.(520-522)ctG>ctT p.L174L BLCA 20 61867569 61867569 + Missense_Mutation SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr20:61867569G>A c.121G>A c.(121-123)Ggc>Agc p.G41S BLCA 20 61870741 61870741 + Silent SNP G G A TCGA-BT-A42E-01A-11D-A23U-08 TCGA-BT-A42E-10A-01D-A23U-08 g.chr20:61870741G>A c.681G>A c.(679-681)gcG>gcA p.A227A BLCA 20 61870759 61870759 + Silent SNP C C A TCGA-G2-AA3F-01A-12D-A42E-08 TCGA-G2-AA3F-10A-01D-A42H-08 g.chr20:61870759C>A c.699C>A c.(697-699)ccC>ccA p.P233P BLCA 20 61870805 61870805 + Missense_Mutation SNP G G A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr20:61870805G>A c.745G>A c.(745-747)Gag>Aag p.E249K BLCA 20 61870838 61870838 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr20:61870838G>A c.778G>A c.(778-780)Gtg>Atg p.V260M BRCA 20 61867655 61867655 + Missense_Mutation SNP G G T TCGA-AR-A2LK-01A-11D-A17W-09 TCGA-AR-A2LK-10A-01D-A17W-09 g.chr20:61867655G>T c.207G>T c.(205-207)gaG>gaT p.E69D BRCA 20 61869314 61869314 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr20:61869314G>A c.409G>A c.(409-411)Ggg>Agg p.G137R CHOL 20 61870741 61870741 + Silent SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr20:61870741G>T c.681G>T c.(679-681)gcG>gcT p.A227A COAD 20 61869320 61869320 + Missense_Mutation SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:61869320G>A c.415G>A c.(415-417)Gac>Aac p.D139N COAD 20 61870900 61870900 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:61870900G>A c.840G>A c.(838-840)caG>caA p.Q280Q COAD 20 61870941 61870941 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:61870941G>A c.881G>A c.(880-882)cGc>cAc p.R294H COADREAD 20 61869320 61869320 + Missense_Mutation SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chr20:61869320G>A c.415G>A c.(415-417)Gac>Aac p.D139N COADREAD 20 61870900 61870900 + Silent SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:61870900G>A c.840G>A c.(838-840)caG>caA p.Q280Q COADREAD 20 61870941 61870941 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr20:61870941G>A c.881G>A c.(880-882)cGc>cAc p.R294H DLBC 20 61870941 61870941 + Missense_Mutation SNP G G A TCGA-GR-A4D6-01A-11D-A31X-10 TCGA-GR-A4D6-10A-01D-A31X-10 g.chr20:61870941G>A c.881G>A c.(880-882)cGc>cAc p.R294H ESCA 20 61870941 61870941 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr20:61870941G>T c.881G>T c.(880-882)cGc>cTc p.R294L GBMLGG 20 61867458 61867458 + Frame_Shift_Del DEL A A - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 g.chr20:61867458delA c.10delA c.(10-12)aaafs p.K4fs GBMLGG 20 61870847 61870847 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:61870847G>A c.787G>A c.(787-789)Gtc>Atc p.V263I HNSC 20 61867696 61867696 + Missense_Mutation SNP G G A TCGA-MZ-A5BI-01A-31D-A34J-08 TCGA-MZ-A5BI-10C-01D-A34M-08 g.chr20:61867696G>A c.248G>A c.(247-249)gGc>gAc p.G83D HNSC 20 61869950 61869950 + Silent SNP C C G TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr20:61869950C>G c.561C>G c.(559-561)gcC>gcG p.A187A HNSC 20 61870794 61870794 + Missense_Mutation SNP G G T TCGA-IQ-7630-01A-11D-2078-08 TCGA-IQ-7630-10A-01D-2078-08 g.chr20:61870794G>T c.734G>T c.(733-735)cGg>cTg p.R245L HNSC 20 61870933 61870933 + Missense_Mutation SNP C C G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr20:61870933C>G c.873C>G c.(871-873)agC>agG p.S291R LGG 20 61867458 61867458 + Frame_Shift_Del DEL A A - TCGA-P5-A77X-01A-11D-A32B-08 TCGA-P5-A77X-10A-01D-A329-08 g.chr20:61867458delA c.10delA c.(10-12)aaafs p.K4fs LGG 20 61870847 61870847 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:61870847G>A c.787G>A c.(787-789)Gtc>Atc p.V263I LIHC 20 61867529 61867529 + Frame_Shift_Del DEL G G - TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr20:61867529delG c.81delG c.(79-81)cagfs p.Q27fs LIHC 20 61869278 61869278 + Missense_Mutation SNP T T A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr20:61869278T>A c.373T>A c.(373-375)Ttc>Atc p.F125I LIHC 20 61870579 61870579 + Missense_Mutation SNP G G A TCGA-DD-A39V-01A-11D-A20W-10 TCGA-DD-A39V-11A-11D-A20W-10 g.chr20:61870579G>A c.643G>A c.(643-645)Gag>Aag p.E215K LUAD 20 61867617 61867617 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr20:61867617G>T c.169G>T c.(169-171)Ggc>Tgc p.G57C LUAD 20 61869766 61869766 + Silent SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr20:61869766G>T c.468G>T c.(466-468)cgG>cgT p.R156R LUAD 20 61869809 61869809 + Missense_Mutation SNP T T A TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr20:61869809T>A c.511T>A c.(511-513)Tcc>Acc p.S171T LUAD 20 61869945 61869945 + Missense_Mutation SNP G G A TCGA-62-8398-01A-11D-2323-08 TCGA-62-8398-10A-01D-2323-08 g.chr20:61869945G>A c.556G>A c.(556-558)Gca>Aca p.A186T LUAD 20 61870560 61870560 + Silent SNP C C G TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr20:61870560C>G c.624C>G c.(622-624)gtC>gtG p.V208V LUAD 20 61870735 61870735 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr20:61870735G>T c.675G>T c.(673-675)caG>caT p.Q225H LUAD 20 61870741 61870741 + Silent SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr20:61870741G>T c.681G>T c.(679-681)gcG>gcT p.A227A LUAD 20 61870752 61870752 + Missense_Mutation SNP T T C TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr20:61870752T>C c.692T>C c.(691-693)cTt>cCt p.L231P LUAD 20 61870753 61870753 + Silent SNP T T C TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr20:61870753T>C c.693T>C c.(691-693)ctT>ctC p.L231L LUAD 20 61870819 61870819 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr20:61870819G>T c.759G>T c.(757-759)aaG>aaT p.K253N LUAD 20 61870849 61870849 + Silent SNP C C G TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr20:61870849C>G c.789C>G c.(787-789)gtC>gtG p.V263V LUAD 20 61870856 61870856 + Missense_Mutation SNP C C T TCGA-55-8206-01A-11D-2238-08 TCGA-55-8206-10A-01D-2238-08 g.chr20:61870856C>T c.796C>T c.(796-798)Ccg>Tcg p.P266S LUSC 20 61867797 61867797 + Splice_Site SNP G G T TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr20:61867797G>T c.349G>T c.(349-351)Ggc>Tgc p.G117C LUSC 20 61869312 61869312 + Missense_Mutation SNP G G A TCGA-56-1622-01A-01D-1521-08 TCGA-56-1622-11A-01D-1521-08 g.chr20:61869312G>A c.407G>A c.(406-408)cGc>cAc p.R136H LUSC 20 61870880 61870880 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr20:61870880G>A c.820G>A c.(820-822)Gag>Aag p.E274K PRAD 20 61870925 61870925 + Missense_Mutation SNP G G A TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 g.chr20:61870925G>A c.865G>A c.(865-867)Gtc>Atc p.V289I SKCM 20 61869824 61869824 + Missense_Mutation SNP T T G TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr20:61869824T>G c.526T>G c.(526-528)Tcc>Gcc p.S176A SKCM 20 61869964 61869964 + Missense_Mutation SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr20:61869964C>T c.575C>T c.(574-576)tCc>tTc p.S192F SKCM 20 61869965 61869965 + Splice_Site SNP C C T TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr20:61869965C>T c.576C>T c.(574-576)tcC>tcT p.S192S SKCM 20 61870828 61870828 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr20:61870828G>A c.768G>A c.(766-768)ctG>ctA p.L256L SKCM 20 61870912 61870912 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr20:61870912C>T c.852C>T c.(850-852)atC>atT p.I284I SKCM 20 61870928 61870928 + Missense_Mutation SNP C C T TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr20:61870928C>T c.868C>T c.(868-870)Cgc>Tgc p.R290C SKCM 20 61870954 61870954 + Silent SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr20:61870954C>T c.894C>T c.(892-894)tcC>tcT p.S298S

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 61873940 61873941 deletion of <=200bp AG - downstream_gene_variant BOCA-FR 20 61867137 61867137 single base substitution C T upstream_gene_variant BRCA-EU 20 61864221 61864221 single base substitution C T upstream_gene_variant BRCA-EU 20 61864888 61864888 single base substitution C G upstream_gene_variant BRCA-EU 20 61864998 61864998 single base substitution T C upstream_gene_variant BRCA-EU 20 61865030 61865030 single base substitution A G upstream_gene_variant BRCA-EU 20 61865553 61865553 single base substitution C T upstream_gene_variant BRCA-EU 20 61867732 61867732 single base substitution A G missense_variant Y95C 284A>G BRCA-EU 20 61867732 61867732 single base substitution A G upstream_gene_variant BRCA-EU 20 61868010 61868010 single base substitution C T intron_variant BRCA-EU 20 61868010 61868010 single base substitution C T upstream_gene_variant BRCA-EU 20 61868492 61868492 single base substitution G T intron_variant BRCA-EU 20 61868492 61868492 single base substitution G T upstream_gene_variant BRCA-EU 20 61868740 61868740 single base substitution G A intron_variant BRCA-EU 20 61868740 61868740 single base substitution G A upstream_gene_variant BRCA-EU 20 61869538 61869538 single base substitution G A intron_variant BRCA-EU 20 61869538 61869538 single base substitution G A upstream_gene_variant BRCA-EU 20 61870461 61870461 single base substitution G A intron_variant BRCA-EU 20 61872828 61872828 single base substitution C T downstream_gene_variant BRCA-EU 20 61873421 61873421 single base substitution G T downstream_gene_variant BRCA-EU 20 61873566 61873566 single base substitution G A downstream_gene_variant BRCA-EU 20 61874050 61874050 single base substitution C G downstream_gene_variant BRCA-EU 20 61874582 61874582 single base substitution G A downstream_gene_variant BRCA-EU 20 61874763 61874763 single base substitution C G downstream_gene_variant BRCA-EU 20 61874934 61874934 single base substitution C T downstream_gene_variant BRCA-EU 20 61875215 61875215 single base substitution C T downstream_gene_variant BRCA-EU 20 61875510 61875510 single base substitution C T downstream_gene_variant BRCA-EU 20 61875627 61875627 single base substitution G C downstream_gene_variant BRCA-EU 20 61875887 61875887 single base substitution T C downstream_gene_variant BRCA-EU 20 61876806 61876806 single base substitution G A downstream_gene_variant BRCA-FR 20 61864998 61864998 single base substitution T C upstream_gene_variant BRCA-FR 20 61874050 61874050 single base substitution C G downstream_gene_variant BRCA-FR 20 61874582 61874582 single base substitution G A downstream_gene_variant BRCA-FR 20 61874934 61874934 single base substitution C T downstream_gene_variant BRCA-FR 20 61875627 61875627 single base substitution G C downstream_gene_variant BRCA-KR 20 61869629 61869629 single base substitution C T intron_variant BRCA-KR 20 61869629 61869629 single base substitution C T missense_variant P24S 70C>T BRCA-US 20 61867655 61867655 single base substitution G T missense_variant E69D 207G>T BRCA-US 20 61867655 61867655 single base substitution G T upstream_gene_variant BRCA-US 20 61869314 61869314 single base substitution G A missense_variant G137R 409G>A BRCA-US 20 61869314 61869314 single base substitution G A upstream_gene_variant BRCA-US 20 61869661 61869661 single base substitution G A intron_variant BRCA-US 20 61869661 61869661 single base substitution G A synonymous_variant G34G 102G>A BTCA-JP 20 61867533 61867533 single base substitution C T missense_variant R29C 85C>T BTCA-JP 20 61867533 61867533 single base substitution C T upstream_gene_variant BTCA-JP 20 61869223 61869223 single base substitution T C intron_variant BTCA-JP 20 61869223 61869223 single base substitution T C upstream_gene_variant BTCA-JP 20 61870813 61870813 single base substitution G A synonymous_variant T146T 438G>A BTCA-JP 20 61870813 61870813 single base substitution G A synonymous_variant T233T 699G>A BTCA-JP 20 61870813 61870813 single base substitution G A synonymous_variant T251T 753G>A BTCA-JP 20 61870834 61870834 single base substitution C T synonymous_variant R153R 459C>T BTCA-JP 20 61870834 61870834 single base substitution C T synonymous_variant R240R 720C>T BTCA-JP 20 61870834 61870834 single base substitution C T synonymous_variant R258R 774C>T BTCA-JP 20 61873093 61873093 single base substitution T C downstream_gene_variant BTCA-JP 20 61874139 61874139 deletion of <=200bp G - downstream_gene_variant CLLE-ES 20 61864200 61864200 single base substitution G T upstream_gene_variant COAD-US 20 61867619 61867619 single base substitution C G synonymous_variant G57G 171C>G COAD-US 20 61867619 61867619 single base substitution C G upstream_gene_variant COAD-US 20 61867650 61867650 single base substitution G A missense_variant E68K 202G>A COAD-US 20 61867650 61867650 single base substitution G A upstream_gene_variant COAD-US 20 61869320 61869320 single base substitution G A missense_variant D139N 415G>A COAD-US 20 61869320 61869320 single base substitution G A upstream_gene_variant COAD-US 20 61869826 61869826 single base substitution C T synonymous_variant S176S 528C>T COAD-US 20 61869826 61869826 single base substitution C T synonymous_variant S89S 267C>T COAD-US 20 61870727 61870727 single base substitution G C intron_variant COAD-US 20 61870727 61870727 single base substitution G C missense_variant E223Q 667G>C COAD-US 20 61870941 61870941 single base substitution G A missense_variant R189H 566G>A COAD-US 20 61870941 61870941 single base substitution G A missense_variant R276H 827G>A COAD-US 20 61870941 61870941 single base substitution G A missense_variant R294H 881G>A COCA-CN 20 61867627 61867627 single base substitution G A missense_variant R60Q 179G>A COCA-CN 20 61867627 61867627 single base substitution G A upstream_gene_variant COCA-CN 20 61868788 61868788 single base substitution C T intron_variant COCA-CN 20 61868788 61868788 single base substitution C T upstream_gene_variant COCA-CN 20 61869465 61869465 single base substitution C A intron_variant COCA-CN 20 61869465 61869465 single base substitution C A upstream_gene_variant COCA-CN 20 61869607 61869607 single base substitution C A intron_variant COCA-CN 20 61869607 61869607 single base substitution C A missense_variant H16Q 48C>A COCA-CN 20 61869933 61869933 single base substitution G T stop_gained E182* 544G>T COCA-CN 20 61869933 61869933 single base substitution G T stop_gained E95* 283G>T COCA-CN 20 61870930 61870930 single base substitution C A synonymous_variant R185R 555C>A COCA-CN 20 61870930 61870930 single base substitution C A synonymous_variant R272R 816C>A COCA-CN 20 61870930 61870930 single base substitution C A synonymous_variant R290R 870C>A COCA-CN 20 61874095 61874095 single base substitution C A downstream_gene_variant COCA-CN 20 61875500 61875500 single base substitution C T downstream_gene_variant EOPC-DE 20 61865683 61865683 single base substitution A G upstream_gene_variant ESAD-UK 20 61862766 61862766 single base substitution G A upstream_gene_variant ESAD-UK 20 61864878 61864878 single base substitution C T upstream_gene_variant ESAD-UK 20 61868570 61868570 single base substitution G A intron_variant ESAD-UK 20 61868570 61868570 single base substitution G A upstream_gene_variant ESAD-UK 20 61868857 61868857 single base substitution G T intron_variant ESAD-UK 20 61868857 61868857 single base substitution G T upstream_gene_variant ESAD-UK 20 61870816 61870816 single base substitution C T synonymous_variant C147C 441C>T ESAD-UK 20 61870816 61870816 single base substitution C T synonymous_variant C234C 702C>T ESAD-UK 20 61870816 61870816 single base substitution C T synonymous_variant C252C 756C>T ESAD-UK 20 61870936 61870936 single base substitution C T synonymous_variant R187R 561C>T ESAD-UK 20 61870936 61870936 single base substitution C T synonymous_variant R274R 822C>T ESAD-UK 20 61870936 61870936 single base substitution C T synonymous_variant R292R 876C>T ESAD-UK 20 61870968 61870968 single base substitution C T downstream_gene_variant ESAD-UK 20 61870968 61870968 single base substitution C T splice_region_variant ESAD-UK 20 61870983 61870983 single base substitution C T downstream_gene_variant ESAD-UK 20 61870983 61870983 single base substitution C T intron_variant ESAD-UK 20 61872679 61872679 single base substitution T A downstream_gene_variant ESAD-UK 20 61873309 61873309 single base substitution T G downstream_gene_variant ESAD-UK 20 61873547 61873547 single base substitution C T downstream_gene_variant ESAD-UK 20 61873865 61873865 single base substitution G C downstream_gene_variant ESAD-UK 20 61874361 61874361 single base substitution G A downstream_gene_variant ESAD-UK 20 61875276 61875276 single base substitution A C downstream_gene_variant ESAD-UK 20 61876279 61876279 single base substitution C T downstream_gene_variant ESAD-UK 20 61876381 61876381 single base substitution G A downstream_gene_variant ESCA-CN 20 61866741 61866741 single base substitution G A upstream_gene_variant ESCA-CN 20 61872852 61872852 single base substitution C T downstream_gene_variant LAML-KR 20 61863035 61863035 single base substitution G T upstream_gene_variant LAML-KR 20 61870634 61870634 single base substitution A G intron_variant LAML-KR 20 61870727 61870727 single base substitution G C intron_variant LAML-KR 20 61870727 61870727 single base substitution G C missense_variant E223Q 667G>C LICA-CN 20 61867546 61867546 single base substitution G C missense_variant R33P 98G>C LICA-CN 20 61867546 61867546 single base substitution G C upstream_gene_variant LICA-FR 20 61869316 61869316 single base substitution G T synonymous_variant G137G 411G>T LICA-FR 20 61869316 61869316 single base substitution G T upstream_gene_variant LICA-FR 20 61869598 61869598 single base substitution G C intron_variant LICA-FR 20 61869598 61869598 single base substitution G C missense_variant R13S 39G>C LICA-FR 20 61870731 61870731 insertion of <=200bp - A frameshift_variant A224D? LICA-FR 20 61870731 61870731 insertion of <=200bp - A intron_variant LICA-FR 20 61870918 61870918 single base substitution A T missense_variant R181S 543A>T LICA-FR 20 61870918 61870918 single base substitution A T missense_variant R268S 804A>T LICA-FR 20 61870918 61870918 single base substitution A T missense_variant R286S 858A>T LICA-FR 20 61870934 61870934 single base substitution C T missense_variant R187C 559C>T LICA-FR 20 61870934 61870934 single base substitution C T missense_variant R274C 820C>T LICA-FR 20 61870934 61870934 single base substitution C T missense_variant R292C 874C>T LIHC-US 20 61867529 61867529 deletion of <=200bp G - frameshift_variant Q27 LIHC-US 20 61867529 61867529 deletion of <=200bp G - upstream_gene_variant LIHC-US 20 61867542 61867542 single base substitution C A missense_variant P32T 94C>A LIHC-US 20 61867542 61867542 single base substitution C A upstream_gene_variant LIHC-US 20 61870579 61870579 single base substitution G A missense_variant E128K 382G>A LIHC-US 20 61870579 61870579 single base substitution G A missense_variant E215K 643G>A LINC-JP 20 61863361 61863361 single base substitution G T upstream_gene_variant LINC-JP 20 61865266 61865266 single base substitution C T upstream_gene_variant LINC-JP 20 61866773 61866773 single base substitution C A upstream_gene_variant LINC-JP 20 61870111 61870111 single base substitution C T intron_variant LINC-JP 20 61871577 61871577 single base substitution A G downstream_gene_variant LINC-JP 20 61871577 61871577 single base substitution A G intron_variant LINC-JP 20 61874172 61874172 single base substitution G T downstream_gene_variant LIRI-JP 20 61863943 61863943 single base substitution G A upstream_gene_variant LIRI-JP 20 61864616 61864616 single base substitution C T upstream_gene_variant LIRI-JP 20 61866960 61866960 single base substitution C A upstream_gene_variant LIRI-JP 20 61870116 61870116 single base substitution G T intron_variant LIRI-JP 20 61870660 61870661 deletion of <=200bp AG - intron_variant LIRI-JP 20 61870740 61870740 single base substitution C T intron_variant LIRI-JP 20 61870740 61870740 single base substitution C T missense_variant A227V 680C>T LIRI-JP 20 61871748 61871748 single base substitution C T 3_prime_UTR_variant LIRI-JP 20 61871748 61871748 single base substitution C T downstream_gene_variant LIRI-JP 20 61872882 61872882 single base substitution A G downstream_gene_variant LUSC-KR 20 61865267 61865267 single base substitution C T upstream_gene_variant LUSC-KR 20 61866057 61866057 single base substitution C A upstream_gene_variant LUSC-KR 20 61867454 61867454 single base substitution A G synonymous_variant G2G 6A>G LUSC-KR 20 61867454 61867454 single base substitution A G upstream_gene_variant LUSC-KR 20 61870302 61870302 single base substitution G C intron_variant LUSC-KR 20 61871160 61871160 single base substitution C T downstream_gene_variant LUSC-KR 20 61871160 61871160 single base substitution C T intron_variant LUSC-KR 20 61872309 61872309 single base substitution T C downstream_gene_variant LUSC-KR 20 61872642 61872642 single base substitution T C downstream_gene_variant LUSC-KR 20 61872779 61872779 single base substitution G A downstream_gene_variant LUSC-KR 20 61875513 61875513 single base substitution A G downstream_gene_variant LUSC-US 20 61867797 61867797 single base substitution G T missense_variant G117C 349G>T LUSC-US 20 61867797 61867797 single base substitution G T upstream_gene_variant LUSC-US 20 61869312 61869312 single base substitution G A missense_variant R136H 407G>A LUSC-US 20 61869312 61869312 single base substitution G A upstream_gene_variant LUSC-US 20 61870880 61870880 single base substitution G A missense_variant E169K 505G>A LUSC-US 20 61870880 61870880 single base substitution G A missense_variant E256K 766G>A LUSC-US 20 61870880 61870880 single base substitution G A missense_variant E274K 820G>A MALY-DE 20 61863323 61863323 single base substitution A G upstream_gene_variant MALY-DE 20 61864337 61864337 single base substitution A T upstream_gene_variant MELA-AU 20 61862565 61862565 single base substitution C T upstream_gene_variant MELA-AU 20 61862570 61862570 single base substitution C A upstream_gene_variant MELA-AU 20 61862678 61862678 single base substitution C T upstream_gene_variant MELA-AU 20 61862983 61862983 single base substitution G A upstream_gene_variant MELA-AU 20 61864087 61864087 single base substitution A G upstream_gene_variant MELA-AU 20 61864728 61864728 single base substitution G A upstream_gene_variant MELA-AU 20 61865422 61865422 single base substitution C T upstream_gene_variant MELA-AU 20 61865507 61865507 single base substitution G A upstream_gene_variant MELA-AU 20 61865697 61865697 single base substitution C A upstream_gene_variant MELA-AU 20 61865867 61865868 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 61867024 61867024 single base substitution G A upstream_gene_variant MELA-AU 20 61867135 61867135 single base substitution C T upstream_gene_variant MELA-AU 20 61867167 61867167 single base substitution C T upstream_gene_variant MELA-AU 20 61869399 61869399 single base substitution G A intron_variant MELA-AU 20 61869399 61869399 single base substitution G A upstream_gene_variant MELA-AU 20 61869711 61869711 single base substitution C T intron_variant MELA-AU 20 61869711 61869711 single base substitution C T missense_variant A51V 152C>T MELA-AU 20 61870891 61870891 single base substitution C T synonymous_variant P172P 516C>T MELA-AU 20 61870891 61870891 single base substitution C T synonymous_variant P259P 777C>T MELA-AU 20 61870891 61870891 single base substitution C T synonymous_variant P277P 831C>T MELA-AU 20 61871002 61871002 single base substitution G A downstream_gene_variant MELA-AU 20 61871002 61871002 single base substitution G A intron_variant MELA-AU 20 61871150 61871150 single base substitution C T downstream_gene_variant MELA-AU 20 61871150 61871150 single base substitution C T intron_variant MELA-AU 20 61871167 61871167 single base substitution C T downstream_gene_variant MELA-AU 20 61871167 61871167 single base substitution C T intron_variant MELA-AU 20 61871364 61871364 single base substitution C T downstream_gene_variant MELA-AU 20 61871364 61871364 single base substitution C T intron_variant MELA-AU 20 61871569 61871569 single base substitution C T downstream_gene_variant MELA-AU 20 61871569 61871569 single base substitution C T intron_variant MELA-AU 20 61871601 61871601 single base substitution C T downstream_gene_variant MELA-AU 20 61871601 61871601 single base substitution C T intron_variant MELA-AU 20 61871713 61871713 single base substitution C T 3_prime_UTR_variant MELA-AU 20 61871713 61871713 single base substitution C T downstream_gene_variant MELA-AU 20 61871947 61871947 single base substitution C A downstream_gene_variant MELA-AU 20 61872250 61872250 single base substitution C T downstream_gene_variant MELA-AU 20 61872339 61872340 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 61872360 61872360 single base substitution G A downstream_gene_variant MELA-AU 20 61872436 61872436 single base substitution C T downstream_gene_variant MELA-AU 20 61872780 61872780 single base substitution C T downstream_gene_variant MELA-AU 20 61872793 61872793 single base substitution C T downstream_gene_variant MELA-AU 20 61873118 61873118 single base substitution G A downstream_gene_variant MELA-AU 20 61873178 61873178 single base substitution C T downstream_gene_variant MELA-AU 20 61873191 61873191 single base substitution T C downstream_gene_variant MELA-AU 20 61873207 61873207 single base substitution G A downstream_gene_variant MELA-AU 20 61873260 61873260 single base substitution C T downstream_gene_variant MELA-AU 20 61873564 61873564 single base substitution C T downstream_gene_variant MELA-AU 20 61874080 61874081 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 61874602 61874602 single base substitution G A downstream_gene_variant MELA-AU 20 61874634 61874634 single base substitution C T downstream_gene_variant MELA-AU 20 61874699 61874699 single base substitution G A downstream_gene_variant MELA-AU 20 61874703 61874703 single base substitution C T downstream_gene_variant MELA-AU 20 61874768 61874768 single base substitution G A downstream_gene_variant MELA-AU 20 61874795 61874796 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 61874817 61874817 single base substitution C T downstream_gene_variant MELA-AU 20 61875269 61875269 single base substitution C T downstream_gene_variant MELA-AU 20 61875270 61875270 single base substitution C A downstream_gene_variant MELA-AU 20 61875566 61875566 single base substitution C T downstream_gene_variant MELA-AU 20 61875582 61875582 single base substitution G A downstream_gene_variant MELA-AU 20 61875849 61875849 single base substitution A T downstream_gene_variant MELA-AU 20 61876393 61876393 single base substitution G A downstream_gene_variant MELA-AU 20 61876456 61876456 single base substitution C T downstream_gene_variant MELA-AU 20 61876604 61876604 single base substitution C T downstream_gene_variant MELA-AU 20 61876834 61876834 single base substitution C T downstream_gene_variant ORCA-IN 20 61863872 61863872 single base substitution G A upstream_gene_variant ORCA-IN 20 61867742 61867742 single base substitution G A synonymous_variant P98P 294G>A ORCA-IN 20 61867742 61867742 single base substitution G A upstream_gene_variant ORCA-IN 20 61867742 61867742 single base substitution G T synonymous_variant P98P 294G>T ORCA-IN 20 61867742 61867742 single base substitution G T upstream_gene_variant ORCA-IN 20 61870923 61870923 single base substitution C A missense_variant P183H 548C>A ORCA-IN 20 61870923 61870923 single base substitution C A missense_variant P270H 809C>A ORCA-IN 20 61870923 61870923 single base substitution C A missense_variant P288H 863C>A OV-AU 20 61862734 61862734 single base substitution C A upstream_gene_variant OV-AU 20 61867752 61867752 single base substitution G C missense_variant E102Q 304G>C OV-AU 20 61867752 61867752 single base substitution G C upstream_gene_variant OV-AU 20 61870040 61870040 single base substitution C T intron_variant OV-AU 20 61870604 61870604 single base substitution C A intron_variant OV-AU 20 61871137 61871137 single base substitution G C downstream_gene_variant OV-AU 20 61871137 61871137 single base substitution G C intron_variant OV-AU 20 61871183 61871183 single base substitution C A downstream_gene_variant OV-AU 20 61871183 61871183 single base substitution C A intron_variant OV-AU 20 61871584 61871584 single base substitution C T downstream_gene_variant OV-AU 20 61871584 61871584 single base substitution C T intron_variant OV-AU 20 61871635 61871635 single base substitution G C 3_prime_UTR_variant OV-AU 20 61871635 61871635 single base substitution G C downstream_gene_variant OV-AU 20 61873919 61873919 single base substitution A G downstream_gene_variant PACA-AU 20 61865416 61865416 single base substitution C T upstream_gene_variant PACA-AU 20 61866439 61866439 single base substitution G T upstream_gene_variant PACA-AU 20 61868181 61868181 single base substitution G T intron_variant PACA-AU 20 61868181 61868181 single base substitution G T upstream_gene_variant PACA-AU 20 61868966 61868966 deletion of <=200bp G - intron_variant PACA-AU 20 61868966 61868966 deletion of <=200bp G - upstream_gene_variant PACA-AU 20 61869313 61869313 single base substitution C T synonymous_variant R136R 408C>T PACA-AU 20 61869313 61869313 single base substitution C T upstream_gene_variant PACA-AU 20 61870416 61870416 single base substitution C T intron_variant PACA-AU 20 61870847 61870847 single base substitution G A missense_variant V158I 472G>A PACA-AU 20 61870847 61870847 single base substitution G A missense_variant V245I 733G>A PACA-AU 20 61870847 61870847 single base substitution G A missense_variant V263I 787G>A PACA-AU 20 61874756 61874756 single base substitution T C downstream_gene_variant PACA-AU 20 61875840 61875840 single base substitution C T downstream_gene_variant PACA-AU 20 61875911 61875911 single base substitution G T downstream_gene_variant PACA-AU 20 61876731 61876731 single base substitution G A downstream_gene_variant PACA-CA 20 61862808 61862808 single base substitution C A upstream_gene_variant PACA-CA 20 61865448 61865448 single base substitution G A upstream_gene_variant PACA-CA 20 61867712 61867712 single base substitution G A synonymous_variant E88E 264G>A PACA-CA 20 61867712 61867712 single base substitution G A upstream_gene_variant PACA-CA 20 61868664 61868664 single base substitution C T intron_variant PACA-CA 20 61868664 61868664 single base substitution C T upstream_gene_variant PACA-CA 20 61869348 61869348 single base substitution T C missense_variant F148S 443T>C PACA-CA 20 61869348 61869348 single base substitution T C upstream_gene_variant PACA-CA 20 61871498 61871498 single base substitution G T downstream_gene_variant PACA-CA 20 61871498 61871498 single base substitution G T intron_variant PACA-CA 20 61875030 61875030 single base substitution C T downstream_gene_variant PACA-CA 20 61875510 61875510 single base substitution C T downstream_gene_variant PACA-CA 20 61875588 61875588 single base substitution G C downstream_gene_variant PAEN-IT 20 61874228 61874228 single base substitution C T downstream_gene_variant PBCA-DE 20 61870691 61870691 single base substitution C T intron_variant PBCA-DE 20 61874686 61874686 single base substitution C A downstream_gene_variant PRAD-CA 20 61866544 61866544 single base substitution G T upstream_gene_variant PRAD-CA 20 61876212 61876212 single base substitution C T downstream_gene_variant PRAD-UK 20 61867872 61867872 single base substitution C A intron_variant PRAD-UK 20 61867872 61867872 single base substitution C A upstream_gene_variant PRAD-UK 20 61871055 61871055 single base substitution C G downstream_gene_variant PRAD-UK 20 61871055 61871055 single base substitution C G intron_variant PRAD-UK 20 61873097 61873097 single base substitution C T downstream_gene_variant PRAD-UK 20 61876368 61876368 single base substitution C T downstream_gene_variant RECA-EU 20 61862720 61862720 single base substitution C T upstream_gene_variant RECA-EU 20 61862900 61862900 single base substitution G A upstream_gene_variant RECA-EU 20 61864929 61864929 single base substitution T C upstream_gene_variant RECA-EU 20 61870169 61870169 single base substitution G A intron_variant RECA-EU 20 61870198 61870198 single base substitution C T intron_variant RECA-EU 20 61872326 61872326 single base substitution C A downstream_gene_variant SKCA-BR 20 61866017 61866017 single base substitution G A upstream_gene_variant SKCA-BR 20 61871167 61871167 single base substitution C T downstream_gene_variant SKCA-BR 20 61871167 61871167 single base substitution C T intron_variant SKCA-BR 20 61871837 61871837 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 61871837 61871837 single base substitution C T downstream_gene_variant SKCA-BR 20 61873774 61873774 single base substitution T C downstream_gene_variant SKCA-BR 20 61874126 61874126 single base substitution G A downstream_gene_variant SKCA-BR 20 61875564 61875564 single base substitution T C downstream_gene_variant SKCA-BR 20 61875889 61875889 single base substitution T A downstream_gene_variant SKCM-US 20 61869824 61869824 single base substitution T G missense_variant S176A 526T>G SKCM-US 20 61869824 61869824 single base substitution T G missense_variant S89A 265T>G SKCM-US 20 61870828 61870828 single base substitution G A synonymous_variant L151L 453G>A SKCM-US 20 61870828 61870828 single base substitution G A synonymous_variant L238L 714G>A SKCM-US 20 61870828 61870828 single base substitution G A synonymous_variant L256L 768G>A SKCM-US 20 61870912 61870912 single base substitution C T synonymous_variant I179I 537C>T SKCM-US 20 61870912 61870912 single base substitution C T synonymous_variant I266I 798C>T SKCM-US 20 61870912 61870912 single base substitution C T synonymous_variant I284I 852C>T SKCM-US 20 61870928 61870928 single base substitution C T missense_variant R185C 553C>T SKCM-US 20 61870928 61870928 single base substitution C T missense_variant R272C 814C>T SKCM-US 20 61870928 61870928 single base substitution C T missense_variant R290C 868C>T SKCM-US 20 61870954 61870954 single base substitution C T synonymous_variant S193S 579C>T SKCM-US 20 61870954 61870954 single base substitution C T synonymous_variant S280S 840C>T SKCM-US 20 61870954 61870954 single base substitution C T synonymous_variant S298S 894C>T SKCM-US 20 61875382 61875382 single base substitution C T downstream_gene_variant STAD-US 20 61869290 61869290 deletion of <=200bp G - frameshift_variant G129 STAD-US 20 61869290 61869290 deletion of <=200bp G - upstream_gene_variant STAD-US 20 61870887 61870887 single base substitution C T missense_variant A171V 512C>T STAD-US 20 61870887 61870887 single base substitution C T missense_variant A258V 773C>T STAD-US 20 61870887 61870887 single base substitution C T missense_variant A276V 827C>T STAD-US 20 61870935 61870935 single base substitution G C missense_variant R187P 560G>C STAD-US 20 61870935 61870935 single base substitution G C missense_variant R274P 821G>C STAD-US 20 61870935 61870935 single base substitution G C missense_variant R292P 875G>C STAD-US 20 61870941 61870941 single base substitution G A missense_variant R189H 566G>A STAD-US 20 61870941 61870941 single base substitution G A missense_variant R276H 827G>A STAD-US 20 61870941 61870941 single base substitution G A missense_variant R294H 881G>A THCA-SA 20 61867619 61867619 single base substitution C G synonymous_variant G57G 171C>G THCA-SA 20 61867619 61867619 single base substitution C G upstream_gene_variant THCA-SA 20 61870727 61870727 single base substitution G C intron_variant THCA-SA 20 61870727 61870727 single base substitution G C missense_variant E223Q 667G>C THCA-SA 20 61872208 61872208 single base substitution G C downstream_gene_variant THCA-SA 20 61872309 61872309 single base substitution T C downstream_gene_variant THCA-SA 20 61872450 61872450 single base substitution A T downstream_gene_variant UCEC-US 20 61869289 61869289 single base substitution T C synonymous_variant Y128Y 384T>C UCEC-US 20 61869289 61869289 single base substitution T C upstream_gene_variant UCEC-US 20 61870903 61870903 single base substitution G T synonymous_variant L176L 528G>T UCEC-US 20 61870903 61870903 single base substitution G T synonymous_variant L263L 789G>T UCEC-US 20 61870903 61870903 single base substitution G T synonymous_variant L281L 843G>T UCEC-US 20 61875400 61875400 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587286 COSM1184744 c.211G>A p.A71T Substitution - Missense 20:63236307-63236307 + TCGA-BH-A0HA-01 COSM444198 c.409G>A p.G137R Substitution - Missense 20:63237962-63237962 + CHC1754T COSM5348722 c.671_672insA p.Q225fs*8 Insertion - Frameshift 20:63239379-63239380 + TCGA-UB-A7MB-01 COSM4931934 c.94C>A p.P32T Substitution - Missense 20:63236190-63236190 + TCGA-AM-5820-01 COSM3758732 c.528C>T p.S176S Substitution - coding silent 20:63238474-63238474 + TCGA-HU-8602-01 COSM4100263 c.827C>T p.A276V Substitution - Missense 20:63239535-63239535 + SC_9035 COSM5567026 c.269G>A p.R90H Substitution - Missense 20:63236365-63236365 + CHC892T COSM4794726 c.874C>T p.R292C Substitution - Missense 20:63239582-63239582 + TCGA-EE-A3AG-06 COSM3548862 c.852C>T p.I284I Substitution - coding silent 20:63239560-63239560 + T3351 COSM4665770 c.730C>T p.R244W Substitution - Missense 20:63239438-63239438 + TCGA-AZ-4615-01 COSM444199 c.667G>C p.E223Q Substitution - Missense 20:63239375-63239375 + TCGA-60-2698-01 COSM724814 c.820G>A p.E274K Substitution - Missense 20:63239528-63239528 + LUAD-S01341 COSM396745 c.143G>A p.W48* Substitution - Nonsense 20:63236239-63236239 + CN-AML-CR-64-Dx COSM444199 c.667G>C p.E223Q Substitution - Missense 20:63239375-63239375 + TCGA-BR-4371-01 COSM1413059 c.881G>A p.R294H Substitution - Missense 20:63239589-63239589 + TCGA-D1-A15Z-01 COSM1029035 c.843G>T p.L281L Substitution - coding silent 20:63239551-63239551 + TCGA-AM-5821-01 COSM444199 c.667G>C p.E223Q Substitution - Missense 20:63239375-63239375 + RK308_C01 COSM3740228 c.680C>T p.A227V Substitution - Missense 20:63239388-63239388 + SNU-175 COSM2931504 c.796C>T p.P266S Substitution - Missense 20:63239504-63239504 + Au9 COSM5607303 c.195G>A p.E65E Substitution - coding silent 20:63236291-63236291 + BD121T COSM4665767 c.85C>T p.R29C Substitution - Missense 20:63236181-63236181 + CSCC-57-T COSM4509109 c.797C>T p.P266L Substitution - Missense 20:63239505-63239505 + TCGA-AZ-4615-01 COSM3758732 c.528C>T p.S176S Substitution - coding silent 20:63238474-63238474 + LS180 COSM2931486 c.180G>A p.R60R Substitution - coding silent 20:63236276-63236276 + TCGA-AM-5820-01 COSM3758731 c.171C>G p.G57G Substitution - coding silent 20:63236267-63236267 + CSCC-38-T COSM4562512 c.92G>A p.G31E Substitution - Missense 20:63236188-63236188 + TCGA-AR-A2LK-01 COSM2931487 c.207G>T p.E69D Substitution - Missense 20:63236303-63236303 + TCGA-FR-A3YO-06 COSM3548864 c.894C>T p.S298S Substitution - coding silent 20:63239602-63239602 + CSCC-62-T COSM4454659 c.551A>G p.E184G Substitution - Missense 20:63238588-63238588 + CHC892T COSM4794726 c.874C>T p.R292C Substitution - Missense 20:63239582-63239582 + HCC021T COSM5815578 c.98G>C p.R33P Substitution - Missense 20:63236194-63236194 + BD72T COSM5513645 c.753G>A p.T251T Substitution - coding silent 20:63239461-63239461 + TCGA-B5-A11Y-01 COSM1029034 c.384T>C p.Y128Y Substitution - coding silent 20:63237937-63237937 + TCGA-AM-5821-01 COSM3693633 c.202G>A p.E68K Substitution - Missense 20:63236298-63236298 + HCC2998 COSM2931481 c.111C>T p.S37S Substitution - coding silent 20:63236207-63236207 + TCGA-EE-A29V-06 COSM3548861 c.768G>A p.L256L Substitution - coding silent 20:63239476-63239476 + KYSE-150 COSM2931493 c.418C>T p.P140S Substitution - Missense 20:63237971-63237971 + PD4882a COSM5025124 c.467G>A p.R156Q Substitution - Missense 20:63238413-63238413 + LC_S43 COSM1190315 c.224T>C p.L75S Substitution - Missense 20:63236320-63236320 + T228 COSM4665771 c.877G>A p.V293M Substitution - Missense 20:63239585-63239585 + TCGA-43-2578-01 COSM724817 c.349G>T p.G117C Substitution - Missense 20:63236445-63236445 + T2269 COSM4665767 c.85C>T p.R29C Substitution - Missense 20:63236181-63236181 + TCGA-FS-A1ZC-06 COSM3548860 c.526T>G p.S176A Substitution - Missense 20:63238472-63238472 + T3498 COSM30441 c.491A>G p.H164R Substitution - Missense 20:63238437-63238437 + TCGA-BR-8368-01 COSM4100264 c.875G>C p.R292P Substitution - Missense 20:63239583-63239583 + OSCC-GB_00940111 COSM4891736 c.863C>A p.P288H Substitution - Missense 20:63239571-63239571 + PCSI_0018_Pa_X COSM3379112 c.264G>A p.E88E Substitution - coding silent 20:63236360-63236360 + CSCC-31-T COSM4545803 c.386G>A p.G129E Substitution - Missense 20:63237939-63237939 + TCGA-EE-A20F-06 COSM3548863 c.868C>T p.R290C Substitution - Missense 20:63239576-63239576 + I2L-P25-Tumor-Organoid COSM3758731 c.171C>G p.G57G Substitution - coding silent 20:63236267-63236267 + CSCC-27-T COSM2931504 c.796C>T p.P266S Substitution - Missense 20:63239504-63239504 + LS174T COSM2931486 c.180G>A p.R60R Substitution - coding silent 20:63236276-63236276 + SNUH_G76_S1 COSM3758732 c.528C>T p.S176S Substitution - coding silent 20:63238474-63238474 + PD2183a COSM30441 c.491A>G p.H164R Substitution - Missense 20:63238437-63238437 + 88177 COSM93964 c.772C>T p.R258C Substitution - Missense 20:63239480-63239480 + BCM371T COSM4951626 c.858A>T p.R286S Substitution - Missense 20:63239566-63239566 + Pat_66_A COSM5858314 c.541G>A p.E181K Substitution - Missense 20:63238578-63238578 + 8067541 COSM4387813 c.408C>T p.R136R Substitution - coding silent 20:63237961-63237961 + A3 COSM5350641 c.358G>A p.D120N Substitution - Missense 20:63237911-63237911 + CHC258T COSM3668489 c.411G>T p.G137G Substitution - coding silent 20:63237964-63237964 + 12M COSM5577284 c.833G>A p.G278D Substitution - Missense 20:63239541-63239541 + CRC-36T COSM5460878 c.179G>A p.R60Q Substitution - Missense 20:63236275-63236275 + LC_S43 COSM1190314 c.77C>G p.T26R Substitution - Missense 20:63236173-63236173 + TCGA-56-1622-01 COSM724816 c.407G>A p.R136H Substitution - Missense 20:63237960-63237960 + T3090 COSM4665769 c.697delC p.P234fs*>65 Deletion - Frameshift 20:63239405-63239405 + TCGA-DD-A39V-01 COSM4912473 c.643G>A p.E215K Substitution - Missense 20:63239227-63239227 + RMS2111 COSM5881094 c.413A>G p.D138G Substitution - Missense 20:63237966-63237966 + TCGA-CK-4952-01 COSM1413057 c.415G>A p.D139N Substitution - Missense 20:63237968-63237968 + S00831 COSM5660572 c.314C>G p.P105R Substitution - Missense 20:63236410-63236410 + 112638 COSM93965 c.865G>A p.V289I Substitution - Missense 20:63239573-63239573 + TCGA-CA-6717-01 COSM1413059 c.881G>A p.R294H Substitution - Missense 20:63239589-63239589 + 8015299 COSM3770877 c.787G>A p.V263I Substitution - Missense 20:63239495-63239495 + TARGET-30-PARZMY COSM1283657 c.306G>C p.E102D Substitution - Missense 20:63236402-63236402 + CHC258T COSM3668489 c.411G>T p.G137G Substitution - coding silent 20:63237964-63237964 + OSCC-GB_00690111 COSM4887066 c.294G>T p.P98P Substitution - coding silent 20:63236390-63236390 + T3498 COSM4665768 c.561C>A p.A187A Substitution - coding silent 20:63238598-63238598 + OSCC-GB_00640111 COSM4885155 c.294G>A p.P98P Substitution - coding silent 20:63236390-63236390 + AOCS-116-1-3 COSM4137125 c.304G>C p.E102Q Substitution - Missense 20:63236400-63236400 + BCM371T COSM4951626 c.858A>T p.R286S Substitution - Missense 20:63239566-63239566 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.256080;Hs.256092;Hs.256126 20q13.3 605737

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CC TT SpliceDonorBlockSubstitution . c.575_576delinsTT 20 61869964 CM C T Missense p.R258C c.772C>T 20 61870832 ALL C T Missense p.R290C c.868C>T 20 61870928 CM C T Synonymous p.I284I c.852C>T 20 61870912 CM G A Missense p.R136H c.407G>A 20 61869312 LUSC G A Missense p.R294H c.881G>A 20 61870941 STAD G A Synonymous p.L256L c.768G>A 20 61870828 CM G C Missense p.E102D c.306G>C 20 61867754 NB G C Missense p.E64Q c.190G>C 20 61867638 BRCA G T Missense p.G117C c.349G>T 20 61867797 LUSC G T Missense p.Q225H c.675G>T 20 61870735 LUAD G T Missense p.R245L c.734G>T 20 61870794 HNSC G T Synonymous p.L281L c.843G>T 20 61870903 UCEC G T Synonymous p.R156R c.468G>T 20 61869766 LUAD T C Synonymous p.Y128Y c.384T>C 20 61869289 UCEC T G Missense p.S176A c.526T>G 20 61869824 CM