Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 20 60878630 60878630 + Silent SNP G G A TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chr20:60878630G>A c.6G>A c.(4-6)acG>acA p.T2T BLCA 20 60878723 60878723 + Silent SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr20:60878723G>A c.99G>A c.(97-99)ctG>ctA p.L33L BLCA 20 60878754 60878754 + Missense_Mutation SNP A A G TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr20:60878754A>G c.130A>G c.(130-132)Aaa>Gaa p.K44E BLCA 20 60878805 60878805 + Missense_Mutation SNP T T C TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr20:60878805T>C c.181T>C c.(181-183)Tgg>Cgg p.W61R BLCA 20 60879544 60879544 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr20:60879544G>C c.241G>C c.(241-243)Gag>Cag p.E81Q BLCA 20 60881287 60881287 + Missense_Mutation SNP G G A TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr20:60881287G>A c.365G>A c.(364-366)cGg>cAg p.R122Q BLCA 20 60881304 60881304 + Silent SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr20:60881304C>T c.382C>T c.(382-384)Ctg>Ttg p.L128L BLCA 20 60881753 60881753 + Silent SNP C C A TCGA-UY-A78L-01A-12D-A339-08 TCGA-UY-A78L-10A-01D-A339-08 g.chr20:60881753C>A c.504C>A c.(502-504)ctC>ctA p.L168L BLCA 20 60882753 60882753 + Missense_Mutation SNP C C A TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr20:60882753C>A c.725C>A c.(724-726)cCg>cAg p.P242Q BLCA 20 60882815 60882815 + Nonsense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr20:60882815C>T c.787C>T c.(787-789)Cag>Tag p.Q263* BLCA 20 60883123 60883123 + Silent SNP C C T TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr20:60883123C>T c.903C>T c.(901-903)ctC>ctT p.L301L BLCA 20 60883174 60883174 + Missense_Mutation SNP G G C TCGA-GU-A42P-01A-11D-A23U-08 TCGA-GU-A42P-10A-01D-A23U-08 g.chr20:60883174G>C c.954G>C c.(952-954)gaG>gaC p.E318D BRCA 20 60881304 60881304 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:60881304C>G c.382C>G c.(382-384)Ctg>Gtg p.L128V BRCA 20 60881358 60881358 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr20:60881358G>C c.436G>C c.(436-438)Gaa>Caa p.E146Q CESC 20 60881738 60881738 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr20:60881738G>A c.489G>A c.(487-489)atG>atA p.M163I CESC 20 60882684 60882684 + Missense_Mutation SNP C C T TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr20:60882684C>T c.656C>T c.(655-657)tCa>tTa p.S219L CHOL 20 60879633 60879633 + Splice_Site SNP G G T TCGA-W5-AA2X-01A-11D-A417-09 TCGA-W5-AA2X-10A-01D-A41A-09 g.chr20:60879633G>T c.330G>T c.(328-330)caG>caT p.Q110H COAD 20 60879585 60879585 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr20:60879585C>T c.282C>T c.(280-282)taC>taT p.Y94Y COAD 20 60882685 60882685 + Silent SNP A A G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr20:60882685A>G c.657A>G c.(655-657)tcA>tcG p.S219S COAD 20 60882842 60882842 + Missense_Mutation SNP G G T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:60882842G>T c.814G>T c.(814-816)Gcc>Tcc p.A272S COAD 20 60883816 60883817 + Stop_Codon_Ins INS - - AGCC TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr20:60883816_60883817insAGCC COADREAD 20 60879585 60879585 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr20:60879585C>T c.282C>T c.(280-282)taC>taT p.Y94Y COADREAD 20 60882685 60882685 + Silent SNP A A G TCGA-CM-6168-01A-11D-1650-10 TCGA-CM-6168-10A-01D-1650-10 g.chr20:60882685A>G c.657A>G c.(655-657)tcA>tcG p.S219S COADREAD 20 60882692 60882692 + Missense_Mutation SNP A A C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr20:60882692A>C c.664A>C c.(664-666)Acc>Ccc p.T222P COADREAD 20 60882842 60882842 + Missense_Mutation SNP G G T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr20:60882842G>T c.814G>T c.(814-816)Gcc>Tcc p.A272S COADREAD 20 60882875 60882875 + Missense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr20:60882875G>T c.847G>T c.(847-849)Ggc>Tgc p.G283C COADREAD 20 60883816 60883817 + Stop_Codon_Ins INS - - AGCC TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr20:60883816_60883817insAGCC DLBC 20 60878686 60878686 + Missense_Mutation SNP A A G TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chr20:60878686A>G c.62A>G c.(61-63)aAg>aGg p.K21R DLBC 20 60878716 60878716 + Missense_Mutation SNP T T G TCGA-GS-A9TV-01A-11D-A382-10 TCGA-GS-A9TV-10A-01D-A385-10 g.chr20:60878716T>G c.92T>G c.(91-93)aTg>aGg p.M31R DLBC 20 60883192 60883192 + Silent SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr20:60883192G>A c.972G>A c.(970-972)gcG>gcA p.A324A DLBC 20 60883770 60883778 + In_Frame_Del DEL GACACGAAG GACACGAAG - TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr20:60883770_60883778delGACACGAAG c.1177_1185delGACACGAAG c.(1177-1185)gacacgaagdel p.DTK393del ESCA 20 60878680 60878680 + Missense_Mutation SNP C C T TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr20:60878680C>T c.56C>T c.(55-57)tCc>tTc p.S19F ESCA 20 60882434 60882434 + Silent SNP G G A TCGA-Q9-A6FW-01A-31D-A31U-09 TCGA-Q9-A6FW-10A-01D-A31U-09 g.chr20:60882434G>A c.549G>A c.(547-549)ctG>ctA p.L183L ESCA 20 60882437 60882437 + Silent SNP G G A TCGA-L5-A8NG-01A-11D-A37C-09 TCGA-L5-A8NG-11A-11D-A37F-09 g.chr20:60882437G>A c.552G>A c.(550-552)ggG>ggA p.G184G GBM 20 60882680 60882680 + Missense_Mutation SNP C C T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr20:60882680C>T c.652C>T c.(652-654)Ccg>Tcg p.P218S GBMLGG 20 60881369 60881369 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:60881369G>A c.447G>A c.(445-447)gcG>gcA p.A149A GBMLGG 20 60882680 60882680 + Missense_Mutation SNP C C T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr20:60882680C>T c.652C>T c.(652-654)Ccg>Tcg p.P218S HNSC 20 60881334 60881334 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr20:60881334G>T c.412G>T c.(412-414)Ggg>Tgg p.G138W HNSC 20 60883183 60883183 + Silent SNP G G A TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr20:60883183G>A c.963G>A c.(961-963)ccG>ccA p.P321P KIPAN 20 60883769 60883770 + In_Frame_Ins INS - - GACACGAAG TCGA-CJ-4644-01A-02D-1386-10 TCGA-CJ-4644-11A-01D-1251-10 g.chr20:60883769_60883770insGACACGAAG c.1176_1177insGACACGAAG c.(1177-1179)gac>GACACGAAGgac p.393_393D>DTKD KIRC 20 60883769 60883770 + In_Frame_Ins INS - - GACACGAAG TCGA-CJ-4644-01A-02D-1386-10 TCGA-CJ-4644-11A-01D-1251-10 g.chr20:60883769_60883770insGACACGAAG c.1176_1177insGACACGAAG c.(1177-1179)gac>GACACGAAGgac p.393_393D>DTKD LGG 20 60881369 60881369 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr20:60881369G>A c.447G>A c.(445-447)gcG>gcA p.A149A LIHC 20 60882434 60882434 + Frame_Shift_Del DEL G G - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr20:60882434delG c.549delG c.(547-549)ctgfs p.L183fs LIHC 20 60882773 60882773 + Missense_Mutation SNP G G C TCGA-ED-A82E-01A-11D-A34Z-10 TCGA-ED-A82E-10A-01D-A34Z-10 g.chr20:60882773G>C c.745G>C c.(745-747)Ggg>Cgg p.G249R LUAD 20 60881371 60881372 + In_Frame_Ins INS - - AGGCGG TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr20:60881371_60881372insAGGCGG c.449_450insAGGCGG c.(448-453)ctaggc>ctAGGCGGaggc p.151_152insGG OV 20 60883116 60883116 + Missense_Mutation SNP C C T TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 g.chr20:60883116C>T c.896C>T c.(895-897)cCc>cTc p.P299L PAAD 20 60883799 60883799 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr20:60883799G>T c.1206G>T c.(1204-1206)gaG>gaT p.E402D PAAD 20 60883800 60883800 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 g.chr20:60883800G>T c.1207G>T c.(1207-1209)Gac>Tac p.D403Y READ 20 60882692 60882692 + Missense_Mutation SNP A A C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr20:60882692A>C c.664A>C c.(664-666)Acc>Ccc p.T222P READ 20 60882875 60882875 + Missense_Mutation SNP G G T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr20:60882875G>T c.847G>T c.(847-849)Ggc>Tgc p.G283C SKCM 20 60881373 60881373 + Missense_Mutation SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr20:60881373G>A c.451G>A c.(451-453)Ggc>Agc p.G151S SKCM 20 60882796 60882796 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr20:60882796C>T c.768C>T c.(766-768)gcC>gcT p.A256A SKCM 20 60883138 60883138 + Silent SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr20:60883138C>T c.918C>T c.(916-918)gtC>gtT p.V306V SKCM 20 60883139 60883139 + Nonsense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr20:60883139C>T c.919C>T c.(919-921)Cag>Tag p.Q307*

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 60882701 60882701 single base substitution A C downstream_gene_variant BLCA-CN 20 60882701 60882701 single base substitution A C missense_variant T225P 673A>C BLCA-CN 20 60888516 60888516 single base substitution G A downstream_gene_variant BLCA-US 20 60878630 60878630 single base substitution G A exon_variant BLCA-US 20 60878630 60878630 single base substitution G A synonymous_variant T2T 6G>A BLCA-US 20 60878630 60878630 single base substitution G A upstream_gene_variant BLCA-US 20 60878723 60878723 single base substitution G A exon_variant BLCA-US 20 60878723 60878723 single base substitution G A synonymous_variant L33L 99G>A BLCA-US 20 60878723 60878723 single base substitution G A upstream_gene_variant BLCA-US 20 60882815 60882815 single base substitution C T downstream_gene_variant BLCA-US 20 60882815 60882815 single base substitution C T stop_gained Q263* 787C>T BLCA-US 20 60883123 60883123 single base substitution C T downstream_gene_variant BLCA-US 20 60883123 60883123 single base substitution C T synonymous_variant L301L 903C>T BRCA-EU 20 60873918 60873918 deletion of <=200bp G - upstream_gene_variant BRCA-EU 20 60874893 60874893 single base substitution A G upstream_gene_variant BRCA-EU 20 60875000 60875000 single base substitution T A upstream_gene_variant BRCA-EU 20 60876767 60876767 single base substitution C T upstream_gene_variant BRCA-EU 20 60877404 60877404 single base substitution C T intron_variant BRCA-EU 20 60877404 60877404 single base substitution C T upstream_gene_variant BRCA-EU 20 60878099 60878099 single base substitution G C 5_prime_UTR_variant BRCA-EU 20 60878099 60878099 single base substitution G C exon_variant BRCA-EU 20 60878099 60878099 single base substitution G C upstream_gene_variant BRCA-EU 20 60879809 60879809 single base substitution C T downstream_gene_variant BRCA-EU 20 60879809 60879809 single base substitution C T intron_variant BRCA-EU 20 60881800 60881800 single base substitution G A downstream_gene_variant BRCA-EU 20 60881800 60881800 single base substitution G A intron_variant BRCA-EU 20 60881854 60881854 single base substitution G C downstream_gene_variant BRCA-EU 20 60881854 60881854 single base substitution G C intron_variant BRCA-EU 20 60881987 60881987 single base substitution G C downstream_gene_variant BRCA-EU 20 60881987 60881987 single base substitution G C intron_variant BRCA-EU 20 60883102 60883102 single base substitution G A downstream_gene_variant BRCA-EU 20 60883102 60883102 single base substitution G A synonymous_variant P294P 882G>A BRCA-EU 20 60883285 60883285 insertion of <=200bp - G downstream_gene_variant BRCA-EU 20 60883285 60883285 insertion of <=200bp - G intron_variant BRCA-EU 20 60883739 60883739 single base substitution G C downstream_gene_variant BRCA-EU 20 60883739 60883739 single base substitution G C missense_variant Q382H 1146G>C BRCA-EU 20 60885593 60885593 single base substitution C G downstream_gene_variant BRCA-EU 20 60885862 60885862 single base substitution G A downstream_gene_variant BRCA-EU 20 60887079 60887079 single base substitution G A downstream_gene_variant BRCA-EU 20 60888135 60888135 single base substitution C T downstream_gene_variant BRCA-KR 20 60885241 60885241 single base substitution T C downstream_gene_variant BRCA-KR 20 60886353 60886353 single base substitution C T downstream_gene_variant BRCA-KR 20 60887293 60887293 single base substitution A T downstream_gene_variant BRCA-US 20 60881304 60881304 single base substitution C G downstream_gene_variant BRCA-US 20 60881304 60881304 single base substitution C G exon_variant BRCA-US 20 60881304 60881304 single base substitution C G missense_variant L128V 382C>G BRCA-US 20 60881358 60881358 single base substitution G C downstream_gene_variant BRCA-US 20 60881358 60881358 single base substitution G C exon_variant BRCA-US 20 60881358 60881358 single base substitution G C missense_variant E146Q 436G>C BRCA-US 20 60886146 60886147 deletion of <=200bp TG - downstream_gene_variant BRCA-US 20 60886769 60886769 single base substitution G T downstream_gene_variant BTCA-JP 20 60879450 60879450 single base substitution G A exon_variant BTCA-JP 20 60879450 60879450 single base substitution G A intron_variant BTCA-JP 20 60882936 60882936 single base substitution C T downstream_gene_variant BTCA-JP 20 60882936 60882936 single base substitution C T intron_variant BTCA-JP 20 60883079 60883079 single base substitution G T downstream_gene_variant BTCA-JP 20 60883079 60883079 single base substitution G T missense_variant D287Y 859G>T BTCA-JP 20 60886824 60886824 single base substitution C T downstream_gene_variant CESC-US 20 60881738 60881738 single base substitution G A downstream_gene_variant CESC-US 20 60881738 60881738 single base substitution G A exon_variant CESC-US 20 60881738 60881738 single base substitution G A missense_variant M163I 489G>A CESC-US 20 60882684 60882684 single base substitution C T downstream_gene_variant CESC-US 20 60882684 60882684 single base substitution C T missense_variant S219L 656C>T CESC-US 20 60886121 60886121 single base substitution C T downstream_gene_variant CLLE-ES 20 60880787 60880798 deletion of <=200bp TGTGCACATGTG - downstream_gene_variant CLLE-ES 20 60880787 60880798 deletion of <=200bp TGTGCACATGTG - intron_variant CLLE-ES 20 60883745 60883745 single base substitution C T downstream_gene_variant CLLE-ES 20 60883745 60883745 single base substitution C T synonymous_variant N384N 1152C>T COAD-US 20 60879585 60879585 single base substitution C T exon_variant COAD-US 20 60879585 60879585 single base substitution C T intron_variant COAD-US 20 60879585 60879585 single base substitution C T synonymous_variant Y94Y 282C>T COAD-US 20 60882842 60882842 single base substitution G T downstream_gene_variant COAD-US 20 60882842 60882842 single base substitution G T missense_variant A272S 814G>T COAD-US 20 60883816 60883816 insertion of <=200bp - AGCC downstream_gene_variant COAD-US 20 60883816 60883816 insertion of <=200bp - AGCC frameshift_variant *408*P? COAD-US 20 60884434 60884434 single base substitution C A downstream_gene_variant COAD-US 20 60885546 60885546 single base substitution A G downstream_gene_variant COAD-US 20 60885968 60885968 single base substitution C T downstream_gene_variant COAD-US 20 60886061 60886061 single base substitution G A downstream_gene_variant COAD-US 20 60886078 60886078 single base substitution G A downstream_gene_variant COAD-US 20 60886353 60886353 single base substitution C T downstream_gene_variant COAD-US 20 60886461 60886461 single base substitution C T downstream_gene_variant COAD-US 20 60886756 60886756 deletion of <=200bp C - downstream_gene_variant COAD-US 20 60886769 60886769 single base substitution G A downstream_gene_variant COAD-US 20 60887235 60887235 single base substitution C T downstream_gene_variant COAD-US 20 60887286 60887286 single base substitution G A downstream_gene_variant COAD-US 20 60887468 60887468 single base substitution G A downstream_gene_variant COAD-US 20 60887581 60887581 single base substitution G A downstream_gene_variant COAD-US 20 60888722 60888722 single base substitution A G downstream_gene_variant COCA-CN 20 60882943 60882943 single base substitution C T downstream_gene_variant COCA-CN 20 60882943 60882943 single base substitution C T intron_variant COCA-CN 20 60883191 60883191 single base substitution C T downstream_gene_variant COCA-CN 20 60883191 60883191 single base substitution C T missense_variant A324V 971C>T COCA-CN 20 60883525 60883525 single base substitution C T downstream_gene_variant COCA-CN 20 60883525 60883525 single base substitution C T splice_region_variant COCA-CN 20 60884748 60884748 single base substitution A G downstream_gene_variant COCA-CN 20 60885270 60885270 single base substitution C T downstream_gene_variant COCA-CN 20 60888256 60888256 single base substitution C A downstream_gene_variant COCA-CN 20 60888334 60888334 single base substitution G A downstream_gene_variant EOPC-DE 20 60877317 60877317 single base substitution T C intron_variant EOPC-DE 20 60877317 60877317 single base substitution T C upstream_gene_variant ESAD-UK 20 60872185 60872185 single base substitution C T upstream_gene_variant ESAD-UK 20 60872428 60872428 single base substitution C T upstream_gene_variant ESAD-UK 20 60872739 60872739 single base substitution G T upstream_gene_variant ESAD-UK 20 60873092 60873092 single base substitution G A upstream_gene_variant ESAD-UK 20 60873361 60873361 single base substitution G A upstream_gene_variant ESAD-UK 20 60876415 60876415 single base substitution G A upstream_gene_variant ESAD-UK 20 60876702 60876702 single base substitution T C upstream_gene_variant ESAD-UK 20 60876928 60876928 single base substitution C G upstream_gene_variant ESAD-UK 20 60877214 60877214 single base substitution C G intron_variant ESAD-UK 20 60877214 60877214 single base substitution C G upstream_gene_variant ESAD-UK 20 60879325 60879329 deletion of <=200bp GCCTT - exon_variant ESAD-UK 20 60879325 60879329 deletion of <=200bp GCCTT - intron_variant ESAD-UK 20 60880364 60880364 deletion of <=200bp C - downstream_gene_variant ESAD-UK 20 60880364 60880364 deletion of <=200bp C - intron_variant ESAD-UK 20 60882667 60882667 single base substitution G A downstream_gene_variant ESAD-UK 20 60882667 60882667 single base substitution G A synonymous_variant S213S 639G>A ESAD-UK 20 60883196 60883196 single base substitution G C downstream_gene_variant ESAD-UK 20 60883196 60883196 single base substitution G C missense_variant E326Q 976G>C ESAD-UK 20 60883675 60883675 single base substitution G T downstream_gene_variant ESAD-UK 20 60883675 60883675 single base substitution G T intron_variant ESAD-UK 20 60885372 60885372 single base substitution G A downstream_gene_variant ESAD-UK 20 60886269 60886269 single base substitution G A downstream_gene_variant ESAD-UK 20 60886604 60886604 single base substitution G A downstream_gene_variant ESAD-UK 20 60886996 60886996 single base substitution G A downstream_gene_variant ESAD-UK 20 60887023 60887023 single base substitution G A downstream_gene_variant ESAD-UK 20 60888258 60888258 single base substitution G A downstream_gene_variant ESAD-UK 20 60888873 60888873 single base substitution G A downstream_gene_variant ESCA-CN 20 60888340 60888340 single base substitution T G downstream_gene_variant GBM-US 20 60882680 60882680 single base substitution C T downstream_gene_variant GBM-US 20 60882680 60882680 single base substitution C T missense_variant P218S 652C>T KIRC-US 20 60883769 60883769 insertion of <=200bp - GACACGAAG disruptive_inframe_insertion G392GTRS KIRC-US 20 60883769 60883769 insertion of <=200bp - GACACGAAG downstream_gene_variant KIRC-US 20 60888399 60888399 single base substitution C G downstream_gene_variant LAML-KR 20 60878559 60878559 single base substitution C A exon_variant LAML-KR 20 60878559 60878559 single base substitution C A intron_variant LAML-KR 20 60878559 60878559 single base substitution C A upstream_gene_variant LGG-US 20 60885876 60885876 single base substitution G T downstream_gene_variant LGG-US 20 60886842 60886842 insertion of <=200bp - G downstream_gene_variant LGG-US 20 60888747 60888747 single base substitution G A downstream_gene_variant LICA-CN 20 60887545 60887545 single base substitution C A downstream_gene_variant LICA-FR 20 60878642 60878642 single base substitution G T exon_variant LICA-FR 20 60878642 60878642 single base substitution G T synonymous_variant A6A 18G>T LICA-FR 20 60878642 60878642 single base substitution G T upstream_gene_variant LICA-FR 20 60882799 60882799 single base substitution C A downstream_gene_variant LICA-FR 20 60882799 60882799 single base substitution C A missense_variant S257R 771C>A LICA-FR 20 60884186 60884186 single base substitution A G downstream_gene_variant LICA-FR 20 60886346 60886346 single base substitution A G downstream_gene_variant LICA-FR 20 60886819 60886819 single base substitution G A downstream_gene_variant LIHC-US 20 60882773 60882773 single base substitution G C downstream_gene_variant LIHC-US 20 60882773 60882773 single base substitution G C missense_variant G249R 745G>C LIHC-US 20 60886538 60886538 single base substitution A G downstream_gene_variant LIHC-US 20 60887087 60887087 single base substitution G A downstream_gene_variant LIHM-FR 20 60884776 60884776 single base substitution C A downstream_gene_variant LINC-JP 20 60874367 60874367 single base substitution A C upstream_gene_variant LINC-JP 20 60879551 60879551 single base substitution A C exon_variant LINC-JP 20 60879551 60879551 single base substitution A C intron_variant LINC-JP 20 60879551 60879551 single base substitution A C missense_variant K83T 248A>C LINC-JP 20 60882199 60882199 single base substitution A C downstream_gene_variant LINC-JP 20 60882199 60882199 single base substitution A C intron_variant LINC-JP 20 60882679 60882679 single base substitution C T downstream_gene_variant LINC-JP 20 60882679 60882679 single base substitution C T synonymous_variant T217T 651C>T LINC-JP 20 60883887 60883887 single base substitution T G 3_prime_UTR_variant LINC-JP 20 60883887 60883887 single base substitution T G downstream_gene_variant LINC-JP 20 60886203 60886203 single base substitution C T downstream_gene_variant LINC-JP 20 60887432 60887432 single base substitution C G downstream_gene_variant LIRI-JP 20 60872707 60872707 single base substitution T A upstream_gene_variant LIRI-JP 20 60873171 60873171 single base substitution T A upstream_gene_variant LIRI-JP 20 60878790 60878790 single base substitution C T exon_variant LIRI-JP 20 60878790 60878790 single base substitution C T missense_variant L56F 166C>T LIRI-JP 20 60878790 60878790 single base substitution C T upstream_gene_variant LIRI-JP 20 60880055 60880055 single base substitution T A downstream_gene_variant LIRI-JP 20 60880055 60880055 single base substitution T A intron_variant LIRI-JP 20 60880513 60880513 single base substitution A C downstream_gene_variant LIRI-JP 20 60880513 60880513 single base substitution A C intron_variant LIRI-JP 20 60882900 60882900 single base substitution G A downstream_gene_variant LIRI-JP 20 60882900 60882900 single base substitution G A intron_variant LIRI-JP 20 60885269 60885269 single base substitution G C downstream_gene_variant LUSC-KR 20 60880233 60880233 single base substitution C G downstream_gene_variant LUSC-KR 20 60880233 60880233 single base substitution C G intron_variant LUSC-KR 20 60882397 60882397 single base substitution C G downstream_gene_variant LUSC-KR 20 60882397 60882397 single base substitution C G intron_variant LUSC-KR 20 60882622 60882622 single base substitution C G downstream_gene_variant LUSC-KR 20 60882622 60882622 single base substitution C G intron_variant LUSC-KR 20 60883764 60883764 single base substitution G A downstream_gene_variant LUSC-KR 20 60883764 60883764 single base substitution G A missense_variant E391K 1171G>A LUSC-KR 20 60885142 60885142 single base substitution C A downstream_gene_variant LUSC-KR 20 60886611 60886611 single base substitution C T downstream_gene_variant LUSC-KR 20 60888901 60888901 single base substitution G A downstream_gene_variant LUSC-US 20 60884880 60884880 single base substitution C T downstream_gene_variant LUSC-US 20 60885614 60885614 single base substitution G A downstream_gene_variant LUSC-US 20 60885757 60885757 single base substitution G T downstream_gene_variant LUSC-US 20 60887294 60887294 single base substitution C T downstream_gene_variant MALY-DE 20 60872368 60872368 single base substitution C G upstream_gene_variant MALY-DE 20 60886015 60886015 single base substitution G A downstream_gene_variant MALY-DE 20 60887020 60887020 single base substitution G A downstream_gene_variant MELA-AU 20 60874507 60874507 single base substitution C T upstream_gene_variant MELA-AU 20 60874636 60874636 single base substitution G A upstream_gene_variant MELA-AU 20 60874797 60874797 single base substitution C T upstream_gene_variant MELA-AU 20 60876707 60876707 single base substitution T A upstream_gene_variant MELA-AU 20 60876921 60876921 single base substitution T C upstream_gene_variant MELA-AU 20 60877869 60877869 single base substitution C T intron_variant MELA-AU 20 60877869 60877869 single base substitution C T upstream_gene_variant MELA-AU 20 60877870 60877870 single base substitution C T intron_variant MELA-AU 20 60877870 60877870 single base substitution C T upstream_gene_variant MELA-AU 20 60877875 60877875 single base substitution G A intron_variant MELA-AU 20 60877875 60877875 single base substitution G A upstream_gene_variant MELA-AU 20 60877933 60877933 single base substitution C T intron_variant MELA-AU 20 60877933 60877933 single base substitution C T upstream_gene_variant MELA-AU 20 60878534 60878534 single base substitution C T exon_variant MELA-AU 20 60878534 60878534 single base substitution C T intron_variant MELA-AU 20 60878534 60878534 single base substitution C T upstream_gene_variant MELA-AU 20 60879264 60879264 single base substitution C T exon_variant MELA-AU 20 60879264 60879264 single base substitution C T intron_variant MELA-AU 20 60879277 60879277 single base substitution G A exon_variant MELA-AU 20 60879277 60879277 single base substitution G A intron_variant MELA-AU 20 60879533 60879533 single base substitution C T exon_variant MELA-AU 20 60879533 60879533 single base substitution C T intron_variant MELA-AU 20 60879533 60879533 single base substitution C T missense_variant P77L 230C>T MELA-AU 20 60880618 60880618 single base substitution C T downstream_gene_variant MELA-AU 20 60880618 60880618 single base substitution C T intron_variant MELA-AU 20 60880619 60880619 single base substitution C T downstream_gene_variant MELA-AU 20 60880619 60880619 single base substitution C T intron_variant MELA-AU 20 60880846 60880847 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 60880846 60880847 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 60882012 60882012 single base substitution A G downstream_gene_variant MELA-AU 20 60882012 60882012 single base substitution A G intron_variant MELA-AU 20 60882149 60882149 single base substitution C T downstream_gene_variant MELA-AU 20 60882149 60882149 single base substitution C T intron_variant MELA-AU 20 60885415 60885415 single base substitution G A downstream_gene_variant MELA-AU 20 60886330 60886330 single base substitution G A downstream_gene_variant MELA-AU 20 60886349 60886349 single base substitution G A downstream_gene_variant MELA-AU 20 60886396 60886397 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 60886462 60886462 single base substitution G A downstream_gene_variant MELA-AU 20 60887028 60887029 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 20 60887196 60887196 single base substitution G A downstream_gene_variant MELA-AU 20 60887203 60887203 single base substitution G A downstream_gene_variant MELA-AU 20 60887388 60887388 single base substitution C T downstream_gene_variant MELA-AU 20 60887542 60887542 single base substitution T C downstream_gene_variant MELA-AU 20 60887691 60887691 single base substitution G A downstream_gene_variant MELA-AU 20 60887848 60887848 single base substitution G A downstream_gene_variant MELA-AU 20 60887897 60887897 single base substitution C T downstream_gene_variant MELA-AU 20 60888156 60888156 single base substitution G A downstream_gene_variant MELA-AU 20 60888219 60888219 single base substitution G A downstream_gene_variant MELA-AU 20 60888581 60888582 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 20 60888693 60888694 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant OV-AU 20 60879014 60879014 single base substitution T A intron_variant OV-AU 20 60879014 60879014 single base substitution T A upstream_gene_variant OV-AU 20 60879597 60879597 single base substitution C T exon_variant OV-AU 20 60879597 60879597 single base substitution C T intron_variant OV-AU 20 60879597 60879597 single base substitution C T synonymous_variant F98F 294C>T OV-AU 20 60880424 60880424 single base substitution G A downstream_gene_variant OV-AU 20 60880424 60880424 single base substitution G A intron_variant OV-AU 20 60882689 60882689 single base substitution A G downstream_gene_variant OV-AU 20 60882689 60882689 single base substitution A G missense_variant T221A 661A>G OV-AU 20 60883470 60883470 single base substitution C A downstream_gene_variant OV-AU 20 60883470 60883470 single base substitution C A missense_variant P354H 1061C>A OV-AU 20 60885936 60885936 single base substitution C G downstream_gene_variant PACA-AU 20 60873553 60873553 single base substitution G A upstream_gene_variant PACA-AU 20 60874312 60874312 single base substitution C G upstream_gene_variant PACA-AU 20 60879794 60879794 single base substitution T A downstream_gene_variant PACA-AU 20 60879794 60879794 single base substitution T A intron_variant PACA-AU 20 60880453 60880453 single base substitution G C downstream_gene_variant PACA-AU 20 60880453 60880453 single base substitution G C intron_variant PACA-AU 20 60882081 60882081 single base substitution C A downstream_gene_variant PACA-AU 20 60882081 60882081 single base substitution C A intron_variant PACA-AU 20 60886786 60886786 single base substitution T G downstream_gene_variant PACA-CA 20 60872246 60872246 single base substitution C T upstream_gene_variant PACA-CA 20 60875342 60875342 single base substitution G A upstream_gene_variant PACA-CA 20 60876204 60876204 single base substitution G A upstream_gene_variant PACA-CA 20 60876327 60876327 single base substitution G A upstream_gene_variant PACA-CA 20 60880660 60880660 single base substitution C G downstream_gene_variant PACA-CA 20 60880660 60880660 single base substitution C G intron_variant PACA-CA 20 60883527 60883527 single base substitution G A downstream_gene_variant PACA-CA 20 60883527 60883527 single base substitution G A splice_donor_variant PACA-CA 20 60883680 60883680 single base substitution G C downstream_gene_variant PACA-CA 20 60883680 60883680 single base substitution G C intron_variant PACA-CA 20 60886033 60886033 single base substitution A C downstream_gene_variant PACA-CA 20 60887809 60887809 single base substitution G A downstream_gene_variant PAEN-AU 20 60887467 60887467 single base substitution C T downstream_gene_variant PAEN-IT 20 60880290 60880290 single base substitution G C downstream_gene_variant PAEN-IT 20 60880290 60880290 single base substitution G C intron_variant PBCA-DE 20 60872990 60872990 single base substitution C T upstream_gene_variant PBCA-DE 20 60873241 60873241 single base substitution T G upstream_gene_variant PBCA-DE 20 60883790 60883790 single base substitution C G downstream_gene_variant PBCA-DE 20 60883790 60883790 single base substitution C G missense_variant D399E 1197C>G PBCA-DE 20 60887620 60887620 single base substitution C A downstream_gene_variant PRAD-CA 20 60876707 60876707 single base substitution T A upstream_gene_variant PRAD-CA 20 60888043 60888043 single base substitution C T downstream_gene_variant PRAD-UK 20 60872616 60872616 single base substitution G C upstream_gene_variant PRAD-UK 20 60885262 60885262 single base substitution T C downstream_gene_variant PRAD-US 20 60884512 60884512 single base substitution G C downstream_gene_variant PRAD-US 20 60887332 60887332 single base substitution C T downstream_gene_variant READ-US 20 60882875 60882875 single base substitution G T downstream_gene_variant READ-US 20 60882875 60882875 single base substitution G T missense_variant G283C 847G>T READ-US 20 60884868 60884868 single base substitution G A downstream_gene_variant READ-US 20 60887468 60887468 single base substitution G A downstream_gene_variant READ-US 20 60887581 60887581 single base substitution G A downstream_gene_variant READ-US 20 60888058 60888058 single base substitution G T downstream_gene_variant READ-US 20 60888230 60888230 single base substitution C T downstream_gene_variant READ-US 20 60888833 60888833 single base substitution C T downstream_gene_variant RECA-EU 20 60884204 60884204 single base substitution G A downstream_gene_variant RECA-EU 20 60884208 60884208 single base substitution C A downstream_gene_variant SKCA-BR 20 60877764 60877764 single base substitution A C intron_variant SKCA-BR 20 60877764 60877764 single base substitution A C upstream_gene_variant SKCA-BR 20 60877869 60877869 single base substitution C T intron_variant SKCA-BR 20 60877869 60877869 single base substitution C T upstream_gene_variant SKCA-BR 20 60877870 60877870 single base substitution C T intron_variant SKCA-BR 20 60877870 60877870 single base substitution C T upstream_gene_variant SKCA-BR 20 60878221 60878221 single base substitution T G intron_variant SKCA-BR 20 60878221 60878221 single base substitution T G upstream_gene_variant SKCA-BR 20 60878352 60878352 single base substitution T G exon_variant SKCA-BR 20 60878352 60878352 single base substitution T G intron_variant SKCA-BR 20 60878352 60878352 single base substitution T G upstream_gene_variant SKCA-BR 20 60878720 60878720 single base substitution C G exon_variant SKCA-BR 20 60878720 60878720 single base substitution C G synonymous_variant S32S 96C>G SKCA-BR 20 60878720 60878720 single base substitution C G upstream_gene_variant SKCA-BR 20 60881898 60881898 single base substitution A G downstream_gene_variant SKCA-BR 20 60881898 60881898 single base substitution A G intron_variant SKCA-BR 20 60883769 60883769 insertion of <=200bp - CGACACGAAG downstream_gene_variant SKCA-BR 20 60883769 60883769 insertion of <=200bp - CGACACGAAG frameshift_variant G392GDTK? SKCA-BR 20 60884189 60884189 single base substitution T G downstream_gene_variant SKCA-BR 20 60885147 60885147 single base substitution T G downstream_gene_variant SKCA-BR 20 60885378 60885378 single base substitution G A downstream_gene_variant SKCA-BR 20 60886781 60886781 single base substitution G A downstream_gene_variant SKCA-BR 20 60888334 60888334 single base substitution G A downstream_gene_variant SKCM-US 20 60881373 60881373 single base substitution G A downstream_gene_variant SKCM-US 20 60881373 60881373 single base substitution G A exon_variant SKCM-US 20 60881373 60881373 single base substitution G A missense_variant G151S 451G>A SKCM-US 20 60881720 60881720 single base substitution G A downstream_gene_variant SKCM-US 20 60881720 60881720 single base substitution G A exon_variant SKCM-US 20 60881720 60881720 single base substitution G A synonymous_variant Q157Q 471G>A SKCM-US 20 60882796 60882796 single base substitution C T downstream_gene_variant SKCM-US 20 60882796 60882796 single base substitution C T synonymous_variant A256A 768C>T SKCM-US 20 60885110 60885110 single base substitution C T downstream_gene_variant SKCM-US 20 60885242 60885242 single base substitution C T downstream_gene_variant SKCM-US 20 60885298 60885298 single base substitution A T downstream_gene_variant SKCM-US 20 60885527 60885527 single base substitution G A downstream_gene_variant SKCM-US 20 60885750 60885750 single base substitution G A downstream_gene_variant SKCM-US 20 60885991 60885991 single base substitution G A downstream_gene_variant SKCM-US 20 60886036 60886036 single base substitution G A downstream_gene_variant SKCM-US 20 60886054 60886054 single base substitution G A downstream_gene_variant SKCM-US 20 60886128 60886128 single base substitution G A downstream_gene_variant SKCM-US 20 60886272 60886272 single base substitution C T downstream_gene_variant SKCM-US 20 60886298 60886298 single base substitution G A downstream_gene_variant SKCM-US 20 60886750 60886750 single base substitution C T downstream_gene_variant SKCM-US 20 60887028 60887028 single base substitution C T downstream_gene_variant SKCM-US 20 60887273 60887273 single base substitution G A downstream_gene_variant SKCM-US 20 60887333 60887333 single base substitution G A downstream_gene_variant SKCM-US 20 60887760 60887760 single base substitution T C downstream_gene_variant SKCM-US 20 60887986 60887986 single base substitution G A downstream_gene_variant SKCM-US 20 60888162 60888162 single base substitution G A downstream_gene_variant STAD-US 20 60881312 60881312 single base substitution C T downstream_gene_variant STAD-US 20 60881312 60881312 single base substitution C T exon_variant STAD-US 20 60881312 60881312 single base substitution C T synonymous_variant N130N 390C>T STAD-US 20 60883474 60883474 single base substitution C T downstream_gene_variant STAD-US 20 60883474 60883474 single base substitution C T synonymous_variant L355L 1065C>T STAD-US 20 60883759 60883759 single base substitution A G downstream_gene_variant STAD-US 20 60883759 60883759 single base substitution A G missense_variant Q389R 1166A>G STAD-US 20 60885264 60885264 deletion of <=200bp G - downstream_gene_variant STAD-US 20 60885488 60885488 single base substitution T C downstream_gene_variant STAD-US 20 60885620 60885620 single base substitution G A downstream_gene_variant STAD-US 20 60886128 60886128 single base substitution G T downstream_gene_variant STAD-US 20 60886294 60886294 single base substitution G A downstream_gene_variant STAD-US 20 60887002 60887002 single base substitution G A downstream_gene_variant STAD-US 20 60887023 60887023 single base substitution G A downstream_gene_variant STAD-US 20 60887229 60887229 single base substitution C T downstream_gene_variant STAD-US 20 60887363 60887363 single base substitution C T downstream_gene_variant STAD-US 20 60887486 60887486 single base substitution G A downstream_gene_variant STAD-US 20 60887584 60887584 single base substitution G A downstream_gene_variant STAD-US 20 60887787 60887787 single base substitution A G downstream_gene_variant STAD-US 20 60887968 60887968 single base substitution C T downstream_gene_variant STAD-US 20 60887969 60887969 single base substitution G A downstream_gene_variant STAD-US 20 60888776 60888776 single base substitution C T downstream_gene_variant THCA-SA 20 60885139 60885139 insertion of <=200bp - GGAGGGGTAGGAAG downstream_gene_variant THCA-SA 20 60888776 60888777 deletion of <=200bp CC - downstream_gene_variant THCA-US 20 60887079 60887079 single base substitution G C downstream_gene_variant UCEC-US 20 60881357 60881357 insertion of <=200bp - GAACTCTCT disruptive_inframe_insertion H145QNSL UCEC-US 20 60881357 60881357 insertion of <=200bp - GAACTCTCT downstream_gene_variant UCEC-US 20 60881357 60881357 insertion of <=200bp - GAACTCTCT exon_variant UCEC-US 20 60881358 60881358 single base substitution G A downstream_gene_variant UCEC-US 20 60881358 60881358 single base substitution G A exon_variant UCEC-US 20 60881358 60881358 single base substitution G A missense_variant E146K 436G>A UCEC-US 20 60881718 60881718 single base substitution C A downstream_gene_variant UCEC-US 20 60881718 60881718 single base substitution C A exon_variant UCEC-US 20 60881718 60881718 single base substitution C A missense_variant Q157K 469C>A UCEC-US 20 60883228 60883228 single base substitution C T downstream_gene_variant UCEC-US 20 60883228 60883228 single base substitution C T synonymous_variant F336F 1008C>T UCEC-US 20 60885328 60885328 single base substitution A G downstream_gene_variant UCEC-US 20 60885860 60885860 single base substitution C T downstream_gene_variant UCEC-US 20 60886294 60886294 single base substitution G A downstream_gene_variant UCEC-US 20 60886364 60886364 single base substitution C A downstream_gene_variant UCEC-US 20 60887319 60887319 single base substitution C T downstream_gene_variant UCEC-US 20 60887690 60887690 single base substitution C T downstream_gene_variant UCEC-US 20 60887808 60887808 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 AA1934 COSM4168994 c.551G>T p.G184V Substitution - Missense 20:62307380-62307380 + HCC64T COSM1615811 c.651C>T p.T217T Substitution - coding silent 20:62307623-62307623 + LP6005334-DNA_A04 COSM4412266 c.976G>C p.E326Q Substitution - Missense 20:62308140-62308140 + TCGA-EI-6507-01 COSM1566171 c.847G>T p.G283C Substitution - Missense 20:62307819-62307819 + S02285 COSM5684791 c.80G>T p.R27L Substitution - Missense 20:62303648-62303648 + TCGA-EB-A3XB-01 COSM3548636 c.471G>A p.Q157Q Substitution - coding silent 20:62306664-62306664 + AOCS-149-1-7 COSM4137108 c.661A>G p.T221A Substitution - Missense 20:62307633-62307633 + TCGA-AP-A059-01 COSM1028855 c.1008C>T p.F336F Substitution - coding silent 20:62308172-62308172 + TCGA-D5-6540-01 COSM1412913 c.814G>T p.A272S Substitution - Missense 20:62307786-62307786 + TCGA-EE-A2GM-06 COSM3548635 c.451G>A p.G151S Substitution - Missense 20:62306317-62306317 + HCC64 COSM1615811 c.651C>T p.T217T Substitution - coding silent 20:62307623-62307623 + CSCC-35-T COSM4477277 c.213C>T p.D71D Substitution - coding silent 20:62303781-62303781 + ESCC_53 COSM5631302 c.211G>A p.D71N Substitution - Missense 20:62303779-62303779 + ESCC_31 COSM5627872 c.21C>G p.L7L Substitution - coding silent 20:62303589-62303589 + sysucc-783T COSM5484390 c.971C>T p.A324V Substitution - Missense 20:62308135-62308135 + PTC-28C COSM1683717 c.1189_1190insCGAAGGACA p.D396_K397insTKD Insertion - In frame 20:62308726-62308727 + HCC153T COSM3707906 c.248A>C p.K83T Substitution - Missense 20:62304495-62304495 + ICGC_MB15 COSM215819 c.1197C>G p.D399E Substitution - Missense 20:62308734-62308734 + SWE-21 COSM1179094 c.653C>A p.P218Q Substitution - Missense 20:62307625-62307625 + TCGA-FS-A1ZD-06 COSM3548645 c.768C>T p.A256A Substitution - coding silent 20:62307740-62307740 + MCF7 COSM1683717 c.1189_1190insCGAAGGACA p.D396_K397insTKD Insertion - In frame 20:62308726-62308727 + BD223T COSM5496667 c.859G>T p.D287Y Substitution - Missense 20:62308023-62308023 + TCGA-D7-6519-01 COSM4100084 c.1065C>T p.L355L Substitution - coding silent 20:62308418-62308418 + TCGA-D1-A102-01 COSM1028854 c.469C>A p.Q157K Substitution - Missense 20:62306662-62306662 + CRC-02T COSM5454853 c.1116C>T p.G372G Substitution - coding silent 20:62308469-62308469 + B104 COSM1745041 c.241_250del10 p.E81fs*13 Deletion - Frameshift 20:62304488-62304497 + RK075_C01 COSM1632387 c.166C>T p.L56F Substitution - Missense 20:62303734-62303734 + T26 COSM5343645 c.747G>C p.G249G Substitution - coding silent 20:62307719-62307719 + H1155 COSM1196110 c.1046C>T p.S349L Substitution - Missense 20:62308399-62308399 + TCGA-06-0214-01 COSM3405252 c.652C>T p.P218S Substitution - Missense 20:62307624-62307624 + SJRHB011 COSM3737364 c.213+9C>T p.? Unknown 20:62303790-62303790 + TCGA-BT-A42C-01 COSM4390127 c.787C>T p.Q263* Substitution - Nonsense 20:62307759-62307759 + TCGA-HU-A4GT-01 COSM4100079 c.390C>T p.N130N Substitution - coding silent 20:62306256-62306256 + ACINAR01 COSM1735020 c.826G>A p.V276I Substitution - Missense 20:62307798-62307798 + LUAD-RT-S01818 COSM384013 c.432C>A p.G144G Substitution - coding silent 20:62306298-62306298 + BCB301T COSM4790581 c.771C>A p.S257R Substitution - Missense 20:62307743-62307743 + 10821 COSM1683717 c.1189_1190insCGAAGGACA p.D396_K397insTKD Insertion - In frame 20:62308726-62308727 + 019-0047-01TD COSM5416853 c.1152C>T p.N384N Substitution - coding silent 20:62308689-62308689 + KYSE-450 COSM4439240 c.544G>C p.G182R Substitution - Missense 20:62307373-62307373 + 3N29-VS-3T29 COSM4980482 c.927C>T p.R309R Substitution - coding silent 20:62308091-62308091 + ESCC_53 COSM5631304 c.1171G>A p.E391K Substitution - Missense 20:62308708-62308708 + TCGA-DR-A0ZM-01 COSM459707 c.489G>A p.M163I Substitution - Missense 20:62306682-62306682 + TCGA-FD-A3SO-01 COSM3799735 c.99G>A p.L33L Substitution - coding silent 20:62303667-62303667 + TCGA-D1-A0ZP-01 COSM1028852 c.435_436insGAACTCTCT p.S148_A149insELS Insertion - In frame 20:62306301-62306302 + TCGA-DK-A3IQ-01 COSM1307589 c.6G>A p.T2T Substitution - coding silent 20:62303574-62303574 + HCC153 COSM3707906 c.248A>C p.K83T Substitution - Missense 20:62304495-62304495 + CHC1754T COSM4792693 c.18G>T p.A6A Substitution - coding silent 20:62303586-62303586 + TCGA-Q1-A73O-01 COSM4834388 c.656C>T p.S219L Substitution - Missense 20:62307628-62307628 + KM12 COSM1681818 c.1058G>A p.G353D Substitution - Missense 20:62308411-62308411 + LIM2551 COSM4644297 c.912G>A p.A304A Substitution - coding silent 20:62308076-62308076 + AOCS-141-3-2 COSM4137107 c.294C>T p.F98F Substitution - coding silent 20:62304541-62304541 + SC_9081 COSM5547416 c.385_387delAAC p.N130delN Deletion - In frame 20:62306251-62306253 + TCGA-36-2543-01 COSM1327514 c.896C>T p.P299L Substitution - Missense 20:62308060-62308060 + PCSI_0004_Pa_P_526 COSM5031837 c.1117+1G>A p.? Unknown 20:62308471-62308471 + CSCC-49-T COSM4551964 c.544G>A p.G182R Substitution - Missense 20:62307373-62307373 + ESCC_53 COSM5631301 c.114G>A p.V38V Substitution - coding silent 20:62303682-62303682 + CHC1754T COSM4792693 c.18G>T p.A6A Substitution - coding silent 20:62303586-62303586 + SJRHB011_D COSM3737364 c.213+9C>T p.? Unknown 20:62303790-62303790 + ESCC_53 COSM5631303 c.219G>A p.L73L Substitution - coding silent 20:62304466-62304466 + 587284 COSM1182114 c.767C>T p.A256V Substitution - Missense 20:62307739-62307739 + TCGA-ED-A82E-01 COSM4941452 c.745G>C p.G249R Substitution - Missense 20:62307717-62307717 + PD11745a COSM5798731 c.882G>A p.P294P Substitution - coding silent 20:62308046-62308046 + CCRF-CEM COSM1683717 c.1189_1190insCGAAGGACA p.D396_K397insTKD Insertion - In frame 20:62308726-62308727 + PD5950a COSM5785417 c.541+10G>A p.? Unknown 20:62306744-62306744 + SW48 COSM4656339 c.1117G>A p.D373N Substitution - Missense 20:62308470-62308470 + Pat_46_A COSM5858268 c.644C>T p.A215V Substitution - Missense 20:62307616-62307616 + TCGA-CK-5913-01 COSM1412914 c.1223_1224insAGCC p.? Unknown 20:62308760-62308761 + TCGA-DK-A1A7-01 COSM419314 c.903C>T p.L301L Substitution - coding silent 20:62308067-62308067 + BCB301T COSM4790581 c.771C>A p.S257R Substitution - Missense 20:62307743-62307743 + TCGA-A8-A07R-01 COSM3841440 c.436G>C p.E146Q Substitution - Missense 20:62306302-62306302 + PD3890a COSM5777987 c.1146G>C p.Q382H Substitution - Missense 20:62308683-62308683 + TCGA-BR-4361-01 COSM4100085 c.1166A>G p.Q389R Substitution - Missense 20:62308703-62308703 + TCGA-D5-6930-01 COSM1412911 c.282C>T p.Y94Y Substitution - coding silent 20:62304529-62304529 + TCGA-BP-5196-01 COSM478368 c.395C>A p.P132Q Substitution - Missense 20:62306261-62306261 + TCGA-AC-A23H-01 COSM3841439 c.382C>G p.L128V Substitution - Missense 20:62306248-62306248 + S00841 COSM5661952 c.541+3_541+5delAAC p.? Unknown 20:62306737-62306739 + B34-Tumor COSM3933900 c.673A>C p.T225P Substitution - Missense 20:62307645-62307645 + Pat_06_A COSM5858267 c.430G>T p.G144C Substitution - Missense 20:62306296-62306296 + DLD1 COSM4624299 c.736C>T p.P246S Substitution - Missense 20:62307708-62307708 + HCT15 COSM4624299 c.736C>T p.P246S Substitution - Missense 20:62307708-62307708 + AOCS-112-1-2 COSM4137109 c.1061C>A p.P354H Substitution - Missense 20:62308414-62308414 + TCGA-B5-A11E-01 COSM1028853 c.436G>A p.E146K Substitution - Missense 20:62306302-62306302 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.90107 20q13.33 610650

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.Q157K c.469C>A 20 60881718 UCEC C G Missense p.D399E c.1197C>G 20 60883790 MB C T IntronicSNV . c.1014+9C>T 20 60883243 STAD C T Missense p.L56F c.166C>T 20 60878790 HC C T Missense p.P218S c.652C>T 20 60882680 GBM C T Synonymous p.A256A c.768C>T 20 60882796 CM C T Synonymous p.L301L c.903C>T 20 60883123 BLCA C T Synonymous p.L355L c.1065C>T 20 60883474 STAD - GAACTCTCT Frameshift p.E146Gfs*4 c.436_437insGAACTCTCT 20 60881358 UCEC G A Missense p.E146K c.436G>A 20 60881358 STAD G A Missense p.G151S c.451G>A 20 60881373 CM G A Synonymous p.P321P c.963G>A 20 60883183 HNSC G A Synonymous p.T2T c.6G>A 20 60878630 BLCA G A Synonymous p.T394T c.1182G>A 20 60883775 BRCA