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 1 32694136 32694136 + Missense_Mutation SNP C C T TCGA-OR-A5K4-01A-11D-A29I-10 TCGA-OR-A5K4-10A-01D-A29L-10 g.chr1:32694136C>T c.565C>T c.(565-567)Cgg>Tgg p.R189W BLCA 1 32688180 32688180 + 5'Flank SNP G G C TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr1:32688180G>C BLCA 1 32690056 32690056 + 5'Flank SNP G G C TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr1:32690056G>C BLCA 1 32690056 32690056 + 5'Flank SNP G G C TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr1:32690056G>C BLCA 1 32691917 32691917 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 g.chr1:32691917G>C c.396G>C c.(394-396)caG>caC p.Q132H BLCA 1 32691917 32691917 + Missense_Mutation SNP G G C TCGA-ZF-A9R2-01A-11D-A391-08 TCGA-ZF-A9R2-10A-01D-A394-08 g.chr1:32691917G>C c.396G>C c.(394-396)caG>caC p.Q132H BLCA 1 32692075 32692075 + Missense_Mutation SNP G G A TCGA-XF-A9SJ-01A-11D-A391-08 TCGA-XF-A9SJ-10A-01D-A394-08 g.chr1:32692075G>A c.472G>A c.(472-474)Ggg>Agg p.G158R BLCA 1 32692108 32692108 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 g.chr1:32692108G>C c.505G>C c.(505-507)Gag>Cag p.E169Q BLCA 1 32696762 32696762 + Missense_Mutation SNP G G A TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr1:32696762G>A c.943G>A c.(943-945)Gac>Aac p.D315N BRCA 1 32691811 32691811 + Missense_Mutation SNP G G A TCGA-A8-A06T-01A-11W-A019-09 TCGA-A8-A06T-10A-01W-A021-09 g.chr1:32691811G>A c.290G>A c.(289-291)cGg>cAg p.R97Q BRCA 1 32691906 32691906 + Missense_Mutation SNP G G A TCGA-AR-A0TU-01A-31D-A10G-09 TCGA-AR-A0TU-10A-01D-A10G-09 g.chr1:32691906G>A c.385G>A c.(385-387)Gat>Aat p.D129N BRCA 1 32692099 32692099 + Missense_Mutation SNP G G A TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr1:32692099G>A c.496G>A c.(496-498)Gag>Aag p.E166K BRCA 1 32694340 32694340 + Missense_Mutation SNP A A G TCGA-AR-A0U1-01A-11D-A10Y-09 TCGA-AR-A0U1-10A-01D-A110-09 g.chr1:32694340A>G c.652A>G c.(652-654)Aca>Gca p.T218A BRCA 1 32694368 32694369 + Frame_Shift_Del DEL GG GG - TCGA-AR-A1AV-01A-21D-A12Q-09 TCGA-AR-A1AV-10A-01D-A12Q-09 g.chr1:32694368_32694369delGG c.680_681delGG c.(679-681)cggfs p.R227fs BRCA 1 32694376 32694376 + Missense_Mutation SNP C C T TCGA-E2-A1IE-01A-11D-A188-09 TCGA-E2-A1IE-10A-01D-A13O-09 g.chr1:32694376C>T c.688C>T c.(688-690)Cgt>Tgt p.R230C CESC 1 32692106 32692106 + Missense_Mutation SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr1:32692106G>A c.503G>A c.(502-504)gGa>gAa p.G168E CESC 1 32694789 32694789 + Missense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:32694789G>T c.783G>T c.(781-783)agG>agT p.R261S CESC 1 32696563 32696563 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:32696563G>C c.839G>C c.(838-840)aGa>aCa p.R280T COAD 1 32690044 32690044 + 5'Flank SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr1:32690044A>T COAD 1 32692072 32692072 + Missense_Mutation SNP C C A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:32692072C>A c.469C>A c.(469-471)Ctg>Atg p.L157M COAD 1 32694367 32694367 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:32694367C>T c.679C>T c.(679-681)Cgg>Tgg p.R227W COAD 1 32696723 32696723 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:32696723A>G c.904A>G c.(904-906)Agc>Ggc p.S302G COADREAD 1 32688149 32688149 + 5'Flank SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:32688149T>C COADREAD 1 32690044 32690044 + 5'Flank SNP A A T TCGA-AA-3542-01A-02W-0831-10 TCGA-AA-3542-10A-01W-0831-10 g.chr1:32690044A>T COADREAD 1 32691860 32691860 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr1:32691860C>T c.339C>T c.(337-339)gaC>gaT p.D113D COADREAD 1 32692072 32692072 + Missense_Mutation SNP C C A TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr1:32692072C>A c.469C>A c.(469-471)Ctg>Atg p.L157M COADREAD 1 32694367 32694367 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr1:32694367C>T c.679C>T c.(679-681)Cgg>Tgg p.R227W COADREAD 1 32696723 32696723 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:32696723A>G c.904A>G c.(904-906)Agc>Ggc p.S302G GBMLGG 1 32688215 32688215 + 5'Flank SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:32688215C>T GBMLGG 1 32688225 32688225 + 5'Flank SNP G G A TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr1:32688225G>A HNSC 1 32696783 32696783 + Missense_Mutation SNP G G A TCGA-CN-6013-01A-11D-1683-08 TCGA-CN-6013-10A-01D-1683-08 g.chr1:32696783G>A c.964G>A c.(964-966)Gag>Aag p.E322K LGG 1 32688215 32688215 + 5'Flank SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:32688215C>T LGG 1 32688225 32688225 + 5'Flank SNP G G A TCGA-DB-A4XF-01A-11D-A27K-08 TCGA-DB-A4XF-10A-01D-A27N-08 g.chr1:32688225G>A LIHC 1 32696740 32696740 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:32696740T>C c.921T>C c.(919-921)ggT>ggC p.G307G LUAD 1 32691889 32691889 + Missense_Mutation SNP G G A TCGA-78-8660-01A-11D-2393-08 TCGA-78-8660-10A-01D-2393-08 g.chr1:32691889G>A c.368G>A c.(367-369)aGc>aAc p.S123N LUAD 1 32694188 32694188 + Missense_Mutation SNP C C T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:32694188C>T c.617C>T c.(616-618)gCg>gTg p.A206V LUAD 1 32694336 32694336 + Silent SNP C C T TCGA-50-5068-01A-01D-1625-08 TCGA-50-5068-10A-01D-1625-08 g.chr1:32694336C>T c.648C>T c.(646-648)gaC>gaT p.D216D LUAD 1 32696570 32696570 + Missense_Mutation SNP G G C TCGA-69-7760-01A-11D-2167-08 TCGA-69-7760-10A-01D-2167-08 g.chr1:32696570G>C c.846G>C c.(844-846)aaG>aaC p.K282N OV 1 32688148 32688148 + 5'Flank SNP C C G TCGA-24-1551-01A-01W-0551-08 TCGA-24-1551-10A-01W-0551-08 g.chr1:32688148C>G PRAD 1 32690027 32690027 + 5'Flank SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 g.chr1:32690027C>T READ 1 32688149 32688149 + 5'Flank SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr1:32688149T>C READ 1 32691860 32691860 + Silent SNP C C T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr1:32691860C>T c.339C>T c.(337-339)gaC>gaT p.D113D SKCM 1 32688147 32688147 + 5'Flank SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:32688147C>T SKCM 1 32691786 32691786 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr1:32691786C>T c.265C>T c.(265-267)Ctt>Ttt p.L89F SKCM 1 32694346 32694346 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:32694346C>T c.658C>T c.(658-660)Ctt>Ttt p.L220F

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 1 32687561 32687561 single base substitution C T 5_prime_UTR_variant BLCA-US 1 32687561 32687561 single base substitution C T upstream_gene_variant BLCA-US 1 32688180 32688180 single base substitution G C exon_variant BLCA-US 1 32688180 32688180 single base substitution G C missense_variant Q15H 45G>C BLCA-US 1 32690056 32690056 single base substitution G C exon_variant BLCA-US 1 32690056 32690056 single base substitution G C intron_variant BLCA-US 1 32690056 32690056 single base substitution G C missense_variant R77P 230G>C BLCA-US 1 32691917 32691917 single base substitution G C downstream_gene_variant BLCA-US 1 32691917 32691917 single base substitution G C exon_variant BLCA-US 1 32691917 32691917 single base substitution G C intron_variant BLCA-US 1 32691917 32691917 single base substitution G C missense_variant Q132H 396G>C BLCA-US 1 32692108 32692108 single base substitution G C downstream_gene_variant BLCA-US 1 32692108 32692108 single base substitution G C exon_variant BLCA-US 1 32692108 32692108 single base substitution G C intron_variant BLCA-US 1 32692108 32692108 single base substitution G C missense_variant E169Q 505G>C BRCA-EU 1 32683015 32683015 single base substitution C A upstream_gene_variant BRCA-EU 1 32683332 32683332 single base substitution T C upstream_gene_variant BRCA-EU 1 32684402 32684402 single base substitution G C upstream_gene_variant BRCA-EU 1 32684533 32684533 single base substitution C T upstream_gene_variant BRCA-EU 1 32687273 32687273 single base substitution T A upstream_gene_variant BRCA-EU 1 32687274 32687274 single base substitution C A upstream_gene_variant BRCA-EU 1 32687941 32687941 single base substitution C G intron_variant BRCA-EU 1 32687941 32687941 single base substitution C G upstream_gene_variant BRCA-EU 1 32688590 32688590 single base substitution G C intron_variant BRCA-EU 1 32690728 32690728 single base substitution C A intron_variant BRCA-EU 1 32693446 32693446 single base substitution G A downstream_gene_variant BRCA-EU 1 32693446 32693446 single base substitution G A intron_variant BRCA-EU 1 32694148 32694148 single base substitution G A downstream_gene_variant BRCA-EU 1 32694148 32694148 single base substitution G A exon_variant BRCA-EU 1 32694148 32694148 single base substitution G A missense_variant D193N 577G>A BRCA-EU 1 32695266 32695266 single base substitution C T downstream_gene_variant BRCA-EU 1 32695266 32695266 single base substitution C T intron_variant BRCA-EU 1 32696369 32696369 single base substitution G A downstream_gene_variant BRCA-EU 1 32696369 32696369 single base substitution G A intron_variant BRCA-EU 1 32697745 32697745 single base substitution G T downstream_gene_variant BRCA-EU 1 32699543 32699543 single base substitution G C downstream_gene_variant BRCA-EU 1 32699697 32699697 single base substitution G C downstream_gene_variant BRCA-FR 1 32687941 32687941 single base substitution C G intron_variant BRCA-FR 1 32687941 32687941 single base substitution C G upstream_gene_variant BRCA-UK 1 32687327 32687327 single base substitution G A upstream_gene_variant BRCA-US 1 32691811 32691811 single base substitution G A exon_variant BRCA-US 1 32691811 32691811 single base substitution G A intron_variant BRCA-US 1 32691811 32691811 single base substitution G A missense_variant R97Q 290G>A BRCA-US 1 32691906 32691906 single base substitution G A downstream_gene_variant BRCA-US 1 32691906 32691906 single base substitution G A exon_variant BRCA-US 1 32691906 32691906 single base substitution G A intron_variant BRCA-US 1 32691906 32691906 single base substitution G A missense_variant D129N 385G>A BRCA-US 1 32692099 32692099 single base substitution G A downstream_gene_variant BRCA-US 1 32692099 32692099 single base substitution G A exon_variant BRCA-US 1 32692099 32692099 single base substitution G A intron_variant BRCA-US 1 32692099 32692099 single base substitution G A missense_variant E166K 496G>A BRCA-US 1 32694340 32694340 single base substitution A G downstream_gene_variant BRCA-US 1 32694340 32694340 single base substitution A G exon_variant BRCA-US 1 32694340 32694340 single base substitution A G missense_variant T218A 652A>G BRCA-US 1 32694368 32694369 deletion of <=200bp GG - downstream_gene_variant BRCA-US 1 32694368 32694369 deletion of <=200bp GG - exon_variant BRCA-US 1 32694368 32694369 deletion of <=200bp GG - frameshift_variant R227 BRCA-US 1 32694376 32694376 single base substitution C T downstream_gene_variant BRCA-US 1 32694376 32694376 single base substitution C T exon_variant BRCA-US 1 32694376 32694376 single base substitution C T missense_variant R230C 688C>T BTCA-JP 1 32682619 32682619 single base substitution G A upstream_gene_variant BTCA-JP 1 32683137 32683137 single base substitution G A upstream_gene_variant BTCA-JP 1 32683249 32683249 single base substitution G A upstream_gene_variant CESC-US 1 32686761 32686761 single base substitution A C upstream_gene_variant CESC-US 1 32692106 32692106 single base substitution G A downstream_gene_variant CESC-US 1 32692106 32692106 single base substitution G A exon_variant CESC-US 1 32692106 32692106 single base substitution G A intron_variant CESC-US 1 32692106 32692106 single base substitution G A missense_variant G168E 503G>A CESC-US 1 32694789 32694789 single base substitution G T downstream_gene_variant CESC-US 1 32694789 32694789 single base substitution G T exon_variant CESC-US 1 32694789 32694789 single base substitution G T missense_variant R261S 783G>T CESC-US 1 32696563 32696563 single base substitution G C downstream_gene_variant CESC-US 1 32696563 32696563 single base substitution G C exon_variant CESC-US 1 32696563 32696563 single base substitution G C missense_variant R280T 839G>C CLLE-ES 1 32694782 32694782 single base substitution C T downstream_gene_variant CLLE-ES 1 32694782 32694782 single base substitution C T exon_variant CLLE-ES 1 32694782 32694782 single base substitution C T missense_variant S259F 776C>T CLLE-ES 1 32696734 32696735 deletion of <=200bp AG - downstream_gene_variant CLLE-ES 1 32696734 32696735 deletion of <=200bp AG - frameshift_variant ED305 CLLE-ES 1 32701765 32701765 single base substitution T C downstream_gene_variant CLLE-ES 1 32702061 32702061 single base substitution A G downstream_gene_variant COAD-US 1 32694367 32694367 single base substitution C T downstream_gene_variant COAD-US 1 32694367 32694367 single base substitution C T exon_variant COAD-US 1 32694367 32694367 single base substitution C T missense_variant R227W 679C>T COAD-US 1 32696723 32696723 single base substitution A G downstream_gene_variant COAD-US 1 32696723 32696723 single base substitution A G missense_variant S302G 904A>G COCA-CN 1 32683031 32683031 single base substitution T G upstream_gene_variant COCA-CN 1 32683231 32683231 single base substitution C A upstream_gene_variant COCA-CN 1 32686738 32686738 single base substitution A G upstream_gene_variant COCA-CN 1 32689638 32689638 single base substitution G A exon_variant COCA-CN 1 32689638 32689638 single base substitution G A intron_variant COCA-CN 1 32689638 32689638 single base substitution G A missense_variant V34I 100G>A COCA-CN 1 32689857 32689857 single base substitution A G intron_variant EOPC-DE 1 32690225 32690225 single base substitution C G intron_variant ESAD-UK 1 32683800 32683800 single base substitution C T upstream_gene_variant ESAD-UK 1 32684174 32684174 single base substitution C T upstream_gene_variant ESAD-UK 1 32684546 32684546 single base substitution A T upstream_gene_variant ESAD-UK 1 32684548 32684548 single base substitution A T upstream_gene_variant ESAD-UK 1 32691589 32691589 single base substitution A G intron_variant ESAD-UK 1 32694011 32694011 single base substitution C G downstream_gene_variant ESAD-UK 1 32694011 32694011 single base substitution C G intron_variant ESAD-UK 1 32695213 32695213 single base substitution G A downstream_gene_variant ESAD-UK 1 32695213 32695213 single base substitution G A intron_variant ESAD-UK 1 32696503 32696503 single base substitution A C downstream_gene_variant ESAD-UK 1 32696503 32696503 single base substitution A C intron_variant ESAD-UK 1 32698480 32698480 single base substitution G A downstream_gene_variant ESAD-UK 1 32700210 32700210 single base substitution G A downstream_gene_variant ESAD-UK 1 32700728 32700728 single base substitution G C downstream_gene_variant ESCA-CN 1 32689840 32689840 single base substitution C T intron_variant ESCA-CN 1 32697452 32697452 single base substitution T G downstream_gene_variant KIRC-US 1 32686772 32686772 single base substitution C T upstream_gene_variant LAML-KR 1 32682962 32682962 single base substitution C A upstream_gene_variant LAML-KR 1 32687777 32687777 single base substitution A G intron_variant LAML-KR 1 32687777 32687777 single base substitution A G upstream_gene_variant LAML-KR 1 32690172 32690172 single base substitution T C intron_variant LAML-KR 1 32692494 32692494 single base substitution T C downstream_gene_variant LAML-KR 1 32692494 32692494 single base substitution T C intron_variant LAML-KR 1 32694819 32694819 single base substitution A G downstream_gene_variant LAML-KR 1 32694819 32694819 single base substitution A G intron_variant LAML-KR 1 32696628 32696628 single base substitution A C downstream_gene_variant LAML-KR 1 32696628 32696628 single base substitution A C exon_variant LAML-KR 1 32696628 32696628 single base substitution A C splice_region_variant LGG-US 1 32688225 32688225 single base substitution G A exon_variant LGG-US 1 32688225 32688225 single base substitution G A synonymous_variant K30K 90G>A LICA-FR 1 32687533 32687533 single base substitution C A 5_prime_UTR_variant LICA-FR 1 32687533 32687533 single base substitution C A upstream_gene_variant LIHC-US 1 32686739 32686739 single base substitution T C upstream_gene_variant LINC-JP 1 32694343 32694343 single base substitution A G downstream_gene_variant LINC-JP 1 32694343 32694343 single base substitution A G exon_variant LINC-JP 1 32694343 32694343 single base substitution A G missense_variant T219A 655A>G LINC-JP 1 32694386 32694386 single base substitution A G downstream_gene_variant LINC-JP 1 32694386 32694386 single base substitution A G exon_variant LINC-JP 1 32694386 32694386 single base substitution A G missense_variant N233S 698A>G LINC-JP 1 32696779 32696779 single base substitution A C downstream_gene_variant LINC-JP 1 32696779 32696779 single base substitution A C missense_variant E320D 960A>C LIRI-JP 1 32682958 32682958 single base substitution T C upstream_gene_variant LIRI-JP 1 32683520 32683520 single base substitution G A upstream_gene_variant LIRI-JP 1 32685604 32685604 single base substitution T C upstream_gene_variant LIRI-JP 1 32688815 32688815 single base substitution A C intron_variant LIRI-JP 1 32690171 32690171 single base substitution A G intron_variant LIRI-JP 1 32691791 32691791 single base substitution C T exon_variant LIRI-JP 1 32691791 32691791 single base substitution C T intron_variant LIRI-JP 1 32691791 32691791 single base substitution C T synonymous_variant L90L 270C>T LIRI-JP 1 32695352 32695352 single base substitution A G downstream_gene_variant LIRI-JP 1 32695352 32695352 single base substitution A G intron_variant LIRI-JP 1 32696628 32696628 single base substitution A C downstream_gene_variant LIRI-JP 1 32696628 32696628 single base substitution A C exon_variant LIRI-JP 1 32696628 32696628 single base substitution A C splice_region_variant LIRI-JP 1 32697544 32697544 single base substitution G T downstream_gene_variant LIRI-JP 1 32699650 32699650 single base substitution G T downstream_gene_variant LIRI-JP 1 32701024 32701024 single base substitution C T downstream_gene_variant LIRI-JP 1 32702013 32702013 single base substitution G T downstream_gene_variant LUSC-KR 1 32691908 32691908 single base substitution T C downstream_gene_variant LUSC-KR 1 32691908 32691908 single base substitution T C exon_variant LUSC-KR 1 32691908 32691908 single base substitution T C intron_variant LUSC-KR 1 32691908 32691908 single base substitution T C synonymous_variant D129D 387T>C LUSC-KR 1 32694592 32694592 single base substitution G C downstream_gene_variant LUSC-KR 1 32694592 32694592 single base substitution G C intron_variant LUSC-KR 1 32700514 32700514 single base substitution G T downstream_gene_variant LUSC-KR 1 32701150 32701150 single base substitution G C downstream_gene_variant LUSC-US 1 32687602 32687602 single base substitution C T 5_prime_UTR_variant LUSC-US 1 32687602 32687602 single base substitution C T upstream_gene_variant MALY-DE 1 32685446 32685446 single base substitution C G upstream_gene_variant MALY-DE 1 32686158 32686158 single base substitution T C upstream_gene_variant MALY-DE 1 32687422 32687422 single base substitution C A upstream_gene_variant MALY-DE 1 32688060 32688060 single base substitution T C exon_variant MALY-DE 1 32688060 32688060 single base substitution T C intron_variant MALY-DE 1 32688060 32688060 single base substitution T C upstream_gene_variant MELA-AU 1 32682542 32682542 single base substitution A G upstream_gene_variant MELA-AU 1 32682623 32682623 single base substitution G A upstream_gene_variant MELA-AU 1 32683274 32683274 single base substitution G A upstream_gene_variant MELA-AU 1 32683605 32683605 single base substitution G A upstream_gene_variant MELA-AU 1 32683669 32683669 single base substitution G A upstream_gene_variant MELA-AU 1 32683736 32683736 single base substitution G A upstream_gene_variant MELA-AU 1 32684151 32684151 single base substitution C T upstream_gene_variant MELA-AU 1 32684195 32684195 single base substitution G A upstream_gene_variant MELA-AU 1 32685595 32685595 single base substitution G A upstream_gene_variant MELA-AU 1 32685771 32685771 single base substitution A G upstream_gene_variant MELA-AU 1 32685988 32685988 single base substitution G A upstream_gene_variant MELA-AU 1 32685998 32685998 single base substitution G A upstream_gene_variant MELA-AU 1 32686932 32686933 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 32687779 32687779 single base substitution G A intron_variant MELA-AU 1 32687779 32687779 single base substitution G A upstream_gene_variant MELA-AU 1 32687950 32687950 single base substitution G A intron_variant MELA-AU 1 32687950 32687950 single base substitution G A upstream_gene_variant MELA-AU 1 32687955 32687955 single base substitution G A splice_region_variant MELA-AU 1 32687955 32687955 single base substitution G A upstream_gene_variant MELA-AU 1 32687979 32687979 single base substitution G A 5_prime_UTR_variant MELA-AU 1 32687979 32687979 single base substitution G A upstream_gene_variant MELA-AU 1 32687996 32687996 single base substitution T G 5_prime_UTR_variant MELA-AU 1 32687996 32687996 single base substitution T G upstream_gene_variant MELA-AU 1 32687997 32687997 single base substitution T C 5_prime_UTR_variant MELA-AU 1 32687997 32687997 single base substitution T C upstream_gene_variant MELA-AU 1 32687997 32687997 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 32687997 32687997 single base substitution T G upstream_gene_variant MELA-AU 1 32688964 32688964 single base substitution A C intron_variant MELA-AU 1 32688976 32688976 single base substitution C T intron_variant MELA-AU 1 32689402 32689402 single base substitution G A intron_variant MELA-AU 1 32689862 32689862 single base substitution G A intron_variant MELA-AU 1 32690034 32690034 single base substitution G A exon_variant MELA-AU 1 32690034 32690034 single base substitution G A intron_variant MELA-AU 1 32690034 32690034 single base substitution G A missense_variant G70S 208G>A MELA-AU 1 32690173 32690173 single base substitution A G intron_variant MELA-AU 1 32691726 32691726 single base substitution C T intron_variant MELA-AU 1 32692106 32692106 single base substitution G A downstream_gene_variant MELA-AU 1 32692106 32692106 single base substitution G A exon_variant MELA-AU 1 32692106 32692106 single base substitution G A intron_variant MELA-AU 1 32692106 32692106 single base substitution G A missense_variant G168E 503G>A MELA-AU 1 32693250 32693250 single base substitution C T downstream_gene_variant MELA-AU 1 32693250 32693250 single base substitution C T intron_variant MELA-AU 1 32693521 32693521 single base substitution A C downstream_gene_variant MELA-AU 1 32693521 32693521 single base substitution A C intron_variant MELA-AU 1 32693865 32693865 single base substitution T C downstream_gene_variant MELA-AU 1 32693865 32693865 single base substitution T C intron_variant MELA-AU 1 32697268 32697268 single base substitution C T downstream_gene_variant MELA-AU 1 32697659 32697659 single base substitution G A downstream_gene_variant MELA-AU 1 32697879 32697879 single base substitution G A downstream_gene_variant MELA-AU 1 32698469 32698469 single base substitution C T downstream_gene_variant MELA-AU 1 32698755 32698755 single base substitution C T downstream_gene_variant MELA-AU 1 32699224 32699224 single base substitution C T downstream_gene_variant MELA-AU 1 32699393 32699393 single base substitution A G downstream_gene_variant MELA-AU 1 32699524 32699524 single base substitution G A downstream_gene_variant MELA-AU 1 32700105 32700105 single base substitution G A downstream_gene_variant MELA-AU 1 32700335 32700335 single base substitution C T downstream_gene_variant MELA-AU 1 32700526 32700526 single base substitution C T downstream_gene_variant MELA-AU 1 32700623 32700623 single base substitution C T downstream_gene_variant MELA-AU 1 32701550 32701550 single base substitution A T downstream_gene_variant MELA-AU 1 32701842 32701843 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant ORCA-IN 1 32682934 32682934 single base substitution G T upstream_gene_variant OV-AU 1 32686240 32686240 single base substitution G C upstream_gene_variant OV-AU 1 32693514 32693514 single base substitution G A downstream_gene_variant OV-AU 1 32693514 32693514 single base substitution G A intron_variant PACA-AU 1 32682860 32682860 single base substitution G A upstream_gene_variant PACA-AU 1 32696443 32696443 deletion of <=200bp T - downstream_gene_variant PACA-AU 1 32696443 32696443 deletion of <=200bp T - intron_variant PACA-AU 1 32696714 32696714 single base substitution A T downstream_gene_variant PACA-AU 1 32696714 32696714 single base substitution A T splice_acceptor_variant PACA-CA 1 32686665 32686665 insertion of <=200bp - C upstream_gene_variant PACA-CA 1 32694628 32694628 single base substitution A G downstream_gene_variant PACA-CA 1 32694628 32694628 single base substitution A G intron_variant PACA-CA 1 32694981 32694981 single base substitution C T downstream_gene_variant PACA-CA 1 32694981 32694981 single base substitution C T intron_variant PACA-CA 1 32697507 32697507 single base substitution G C downstream_gene_variant PAEN-IT 1 32688579 32688579 single base substitution C G intron_variant PBCA-DE 1 32683631 32683631 single base substitution C T upstream_gene_variant PRAD-UK 1 32700631 32700631 single base substitution C T downstream_gene_variant PRAD-US 1 32690027 32690027 single base substitution C T exon_variant PRAD-US 1 32690027 32690027 single base substitution C T intron_variant PRAD-US 1 32690027 32690027 single base substitution C T synonymous_variant V67V 201C>T READ-US 1 32691860 32691860 single base substitution C T exon_variant READ-US 1 32691860 32691860 single base substitution C T intron_variant READ-US 1 32691860 32691860 single base substitution C T synonymous_variant D113D 339C>T RECA-EU 1 32696881 32696881 single base substitution C T 3_prime_UTR_variant RECA-EU 1 32696881 32696881 single base substitution C T downstream_gene_variant RECA-EU 1 32700363 32700363 single base substitution G C downstream_gene_variant RECA-EU 1 32702042 32702042 single base substitution G A downstream_gene_variant SKCA-BR 1 32683954 32683954 single base substitution G A upstream_gene_variant SKCA-BR 1 32688649 32688649 single base substitution A T intron_variant SKCA-BR 1 32690259 32690259 insertion of <=200bp - CT intron_variant SKCA-BR 1 32693908 32693908 single base substitution C T downstream_gene_variant SKCA-BR 1 32693908 32693908 single base substitution C T intron_variant SKCM-US 1 32682831 32682831 single base substitution C T upstream_gene_variant SKCM-US 1 32691786 32691786 single base substitution C T exon_variant SKCM-US 1 32691786 32691786 single base substitution C T intron_variant SKCM-US 1 32691786 32691786 single base substitution C T missense_variant L89F 265C>T SKCM-US 1 32694346 32694346 single base substitution C T downstream_gene_variant SKCM-US 1 32694346 32694346 single base substitution C T exon_variant SKCM-US 1 32694346 32694346 single base substitution C T missense_variant L220F 658C>T STAD-US 1 32689716 32689716 single base substitution G A exon_variant STAD-US 1 32689716 32689716 single base substitution G A intron_variant STAD-US 1 32689716 32689716 single base substitution G A missense_variant A60T 178G>A STAD-US 1 32690021 32690021 single base substitution G A exon_variant STAD-US 1 32690021 32690021 single base substitution G A intron_variant STAD-US 1 32690021 32690021 single base substitution G A synonymous_variant K65K 195G>A STAD-US 1 32694367 32694367 single base substitution C T downstream_gene_variant STAD-US 1 32694367 32694367 single base substitution C T exon_variant STAD-US 1 32694367 32694367 single base substitution C T missense_variant R227W 679C>T STAD-US 1 32694368 32694368 single base substitution G A downstream_gene_variant STAD-US 1 32694368 32694368 single base substitution G A exon_variant STAD-US 1 32694368 32694368 single base substitution G A missense_variant R227Q 680G>A STAD-US 1 32694410 32694410 single base substitution A G downstream_gene_variant STAD-US 1 32694410 32694410 single base substitution A G exon_variant STAD-US 1 32694410 32694410 single base substitution A G missense_variant Y241C 722A>G STAD-US 1 32696575 32696575 single base substitution A G downstream_gene_variant STAD-US 1 32696575 32696575 single base substitution A G exon_variant STAD-US 1 32696575 32696575 single base substitution A G missense_variant H284R 851A>G THCA-US 1 32682537 32682537 single base substitution C T upstream_gene_variant UCEC-US 1 32682831 32682831 single base substitution C T upstream_gene_variant UCEC-US 1 32689634 32689634 single base substitution G T intron_variant UCEC-US 1 32689634 32689634 single base substitution G T splice_acceptor_variant UCEC-US 1 32691819 32691819 single base substitution G A exon_variant UCEC-US 1 32691819 32691819 single base substitution G A intron_variant UCEC-US 1 32691819 32691819 single base substitution G A missense_variant G100S 298G>A UCEC-US 1 32696725 32696725 single base substitution C T downstream_gene_variant UCEC-US 1 32696725 32696725 single base substitution C T synonymous_variant S302S 906C>T UCEC-US 1 32696777 32696777 single base substitution G A downstream_gene_variant UCEC-US 1 32696777 32696777 single base substitution G A missense_variant E320K 958G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_15_B COSM5846390 c.436G>T p.D146Y Substitution - Missense 1:32226438-32226438 + TCGA-DB-A4XF-01 COSM3966525 c.90G>A p.K30K Substitution - coding silent 1:32222624-32222624 + LUAD-CHTN-MAD06-00668 COSM358094 c.79A>T p.T27S Substitution - Missense 1:32222613-32222613 + RK141_C01 COSM1627019 c.896+8A>C p.? Unknown 1:32231027-32231027 + TCGA-BR-6452-01 COSM4031470 c.851A>G p.H284R Substitution - Missense 1:32230974-32230974 + 1101-01-02TD COSM5416939 c.776C>T p.S259F Substitution - Missense 1:32229181-32229181 + TCGA-AA-3542-01 COSM292000 c.218A>T p.D73V Substitution - Missense 1:32224443-32224443 + TCGA-AD-6889-01 COSM1341801 c.904A>G p.S302G Substitution - Missense 1:32231122-32231122 + TCGA-BS-A0UF-01 COSM908275 c.958G>A p.E320K Substitution - Missense 1:32231176-32231176 + SNUH_G15_S1 COSM3677662 c.655A>C p.T219P Substitution - Missense 1:32228742-32228742 + TCGA-BT-A20N-01 COSM414479 c.45G>C p.Q15H Substitution - Missense 1:32222579-32222579 + HX36T COSM1602211 c.698A>G p.N233S Substitution - Missense 1:32228785-32228785 + TCGA-CD-5813-01 COSM4031469 c.722A>G p.Y241C Substitution - Missense 1:32228809-32228809 + HCC29 COSM1602211 c.698A>G p.N233S Substitution - Missense 1:32228785-32228785 + SJHGG032_D COSM4970246 c.401-4A>G p.? Unknown 1:32226399-32226399 + TCGA-H9-7775-01 COSM1470231 c.201C>T p.V67V Substitution - coding silent 1:32224426-32224426 + SNUH_G26_S1 COSM3677662 c.655A>C p.T219P Substitution - Missense 1:32228742-32228742 + C086 COSM5530423 c.846G>A p.K282K Substitution - coding silent 1:32230969-32230969 + Pat_11_A COSM5846389 c.314G>A p.G105D Substitution - Missense 1:32226234-32226234 + TCGA-E2-A1IE-01 COSM1473859 c.688C>T p.R230C Substitution - Missense 1:32228775-32228775 + SNUH_G21_S1 COSM3677661 c.646G>T p.D216Y Substitution - Missense 1:32228733-32228733 + CSCC-27-T COSM4505399 c.691C>T p.P231S Substitution - Missense 1:32228778-32228778 + 064 COSM1741238 c.345G>C p.Q115H Substitution - Missense 1:32226265-32226265 + CN-AML-08-T COSM5425319 c.803+10A>G p.? Unknown 1:32229218-32229218 + LUAD-S01345 COSM397110 c.612G>A p.V204V Substitution - coding silent 1:32228582-32228582 + T578 COSM4680620 c.99C>T p.I33I Substitution - coding silent 1:32224036-32224036 + J33_T COSM3977584 c.387T>C p.D129D Substitution - coding silent 1:32226307-32226307 + 138-03-2TD COSM5417067 c.915_916delAG p.D306fs*16 Deletion - Frameshift 1:32231133-32231134 + 855_PT COSM908275 c.958G>A p.E320K Substitution - Missense 1:32231176-32231176 + T3262 COSM4680621 c.706G>A p.A236T Substitution - Missense 1:32228793-32228793 + HCC29T COSM1602211 c.698A>G p.N233S Substitution - Missense 1:32228785-32228785 + P116 COSM1736521 c.70C>G p.L24V Substitution - Missense 1:32222604-32222604 + TCGA-BT-A20O-01 COSM414478 c.230G>C p.R77P Substitution - Missense 1:32224455-32224455 + TCGA-AP-A051-01 COSM908274 c.906C>T p.S302S Substitution - coding silent 1:32231124-32231124 + HCC41 COSM1602210 c.655A>G p.T219A Substitution - Missense 1:32228742-32228742 + TCGA-BG-A0MQ-01 COSM908272 c.112T>C p.Y38H Substitution - Missense 1:32224049-32224049 + Gp2D COSM1473859 c.688C>T p.R230C Substitution - Missense 1:32228775-32228775 + 188 COSM1741530 c.436G>A p.D146N Substitution - Missense 1:32226438-32226438 + TCGA-HU-8604-01 COSM4031466 c.178G>A p.A60T Substitution - Missense 1:32224115-32224115 + TCGA-D8-A1JA-01 COSM3804957 c.496G>A p.E166K Substitution - Missense 1:32226498-32226498 + TCGA-CF-A3MG-01 COSM1296290 c.396G>C p.Q132H Substitution - Missense 1:32226316-32226316 + TCGA-EE-A29M-06 COSM3488112 c.265C>T p.L89F Substitution - Missense 1:32226185-32226185 + TCGA-A8-A06T-01 COSM426091 c.290G>A p.R97Q Substitution - Missense 1:32226210-32226210 + TCGA-AP-A054-01 COSM908271 c.97-1G>T p.? Unknown 1:32224033-32224033 + 345973 COSM3726329 c.325A>C p.M109L Substitution - Missense 1:32226245-32226245 + 3-RS COSM1731647 c.653C>T p.T218I Substitution - Missense 1:32228740-32228740 + TCGA-BR-4184-01 COSM4031467 c.195G>A p.K65K Substitution - coding silent 1:32224420-32224420 + Gp5D COSM1473859 c.688C>T p.R230C Substitution - Missense 1:32228775-32228775 + SNUH_G33_S1 COSM3677661 c.646G>T p.D216Y Substitution - Missense 1:32228733-32228733 + SNUH_G40_S1 COSM3677658 c.459T>G p.V153V Substitution - coding silent 1:32226461-32226461 + SJDES001-R COSM1602210 c.655A>G p.T219A Substitution - Missense 1:32228742-32228742 + YUPROST COSM1687338 c.4A>G p.K2E Substitution - Missense 1:32222538-32222538 + CN-AML-08-T COSM1627019 c.896+8A>C p.? Unknown 1:32231027-32231027 + TCGA-CD-8536-01 COSM4031468 c.680G>A p.R227Q Substitution - Missense 1:32228767-32228767 + 2521249 COSM5887559 c.565C>T p.R189W Substitution - Missense 1:32228535-32228535 + TCGA-DR-A0ZM-01 COSM459305 c.839G>C p.R280T Substitution - Missense 1:32230962-32230962 + SC_9099 COSM5565523 c.929G>A p.R310H Substitution - Missense 1:32231147-32231147 + NB-3186 COSM1284716 c.315C>A p.G105G Substitution - coding silent 1:32226235-32226235 + CSB10 COSM5025231 c.649T>A p.S217T Substitution - Missense 1:32228736-32228736 + RK029_C01 COSM1627018 c.270C>T p.L90L Substitution - coding silent 1:32226190-32226190 + I2L-P24Ta-Tumor-Biopsy COSM1473859 c.688C>T p.R230C Substitution - Missense 1:32228775-32228775 + HCC19 COSM1602212 c.960A>C p.E320D Substitution - Missense 1:32231178-32231178 + TCGA-AR-A0U1-01 COSM426093 c.652A>G p.T218A Substitution - Missense 1:32228739-32228739 + TCGA-24-1551-01 COSM70588 c.13C>G p.L5V Substitution - Missense 1:32222547-32222547 + SNUH_G26_S1 COSM3677659 c.640-2A>C p.? Unknown 1:32228725-32228725 + CSCC-11-T COSM4501187 c.582C>T p.I194I Substitution - coding silent 1:32228552-32228552 + TCGA-AR-A0TU-01 COSM426092 c.385G>A p.D129N Substitution - Missense 1:32226305-32226305 + CN-AML-NR-08-Dx COSM5425319 c.803+10A>G p.? Unknown 1:32229218-32229218 + SNUH_G21_S1 COSM3677660 c.640-1G>C p.? Unknown 1:32228726-32228726 + TCGA-CG-5721-01 COSM1341800 c.679C>T p.R227W Substitution - Missense 1:32228766-32228766 + TCGA-CI-6624-01 COSM1560667 c.339C>T p.D113D Substitution - coding silent 1:32226259-32226259 + S02297 COSM5689695 c.455C>T p.A152V Substitution - Missense 1:32226457-32226457 + RK029_C COSM1627018 c.270C>T p.L90L Substitution - coding silent 1:32226190-32226190 + TCGA-EE-A29E-06 COSM3488113 c.658C>T p.L220F Substitution - Missense 1:32228745-32228745 + TCGA-CF-A3MG-01 COSM1296291 c.505G>C p.E169Q Substitution - Missense 1:32226507-32226507 + TCGA-IR-A3LI-01 COSM4846058 c.503G>A p.G168E Substitution - Missense 1:32226505-32226505 + HN_62421 COSM127872 c.486C>T p.I162I Substitution - coding silent 1:32226488-32226488 + HCC41T COSM1602210 c.655A>G p.T219A Substitution - Missense 1:32228742-32228742 + PD4841a COSM5787710 c.577G>A p.D193N Substitution - Missense 1:32228547-32228547 + SNUH_G21_S1 COSM3677663 c.661G>T p.E221* Substitution - Nonsense 1:32228748-32228748 + 8066491 COSM3771724 c.897-2A>T p.? Unknown 1:32231113-32231113 + CN-AML-NR-08-Dx COSM1627019 c.896+8A>C p.? Unknown 1:32231027-32231027 + LUAD-F00018 COSM339089 c.177C>T p.D59D Substitution - coding silent 1:32224114-32224114 + HCC19T COSM1602212 c.960A>C p.E320D Substitution - Missense 1:32231178-32231178 + TCGA-BS-A0TJ-01 COSM908273 c.298G>A p.G100S Substitution - Missense 1:32226218-32226218 + TCGA-AD-6964-01 COSM1341800 c.679C>T p.R227W Substitution - Missense 1:32228766-32228766 + TCGA-AR-A1AV-01 COSM426094 c.680_681delGG p.R227fs*15 Deletion - Frameshift 1:32228767-32228768 + I2L-P24Ta-Tumor-Organoid COSM1473859 c.688C>T p.R230C Substitution - Missense 1:32228775-32228775 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.530077;Hs.530089;Hs.530096 1p34.1 603911

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D242G c.725A>G 1 32694413 HNSC A G Missense p.T218A c.652A>G 1 32694340 BRCA A G Missense p.Y241C c.722A>G 1 32694410 STAD A T 5-UTRSNV . c.1-58A>T 1 32687985 ESCA A T Missense p.D73V c.218A>T 1 32690044 COREAD C A Synonymous p.G105G c.315C>A 1 32691836 NB C G Missense p.L5V c.13C>G 1 32688148 OV C T Missense p.L89F c.265C>T 1 32691786 CM C T Missense p.R230C c.688C>T 1 32694376 BRCA C T Synonymous p.D216D c.648C>T 1 32694336 LUAD C T Synonymous p.I162I c.486C>T 1 32692089 HNSC C T Synonymous p.L90L c.270C>T 1 32691791 HC C T Synonymous p.V67V c.201C>T 1 32690027 PRAD G A Missense p.D129N c.385G>A 1 32691906 BRCA G A Missense p.E322K c.964G>A 1 32696783 HNSC G A Missense p.G100S c.298G>A 1 32691819 UCEC G A Missense p.R97Q c.290G>A 1 32691811 BRCA G A Synonymous p.K65K c.195G>A 1 32690021 CM G C Missense p.E169Q c.505G>C 1 32692108 BLCA G C Missense p.Q132H c.396G>C 1 32691917 BLCA G C Missense p.Q15H c.45G>C 1 32688180 BLCA G C Missense p.R77P c.230G>C 1 32690056 BLCA GG AA 5-UTRBlockSubstitution . c.1-65_1-64delinsAA 1 32687978 CM GG - Frameshift p.R227Hfs*15 c.680_681delGG 1 32694368 BRCA G T SpliceAcceptorSNV . c.97-1G>T 1 32689634 UCEC T A Missense p.S217T c.649T>A 1 32694337 BRCA T C 5-UTRSNV . c.1-46T>C 1 32687997 CM