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 8 59329436 59329436 + Missense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr8:59329436G>A c.112G>A c.(112-114)Gaa>Aaa p.E38K BLCA 8 59345738 59345738 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr8:59345738A>T c.359A>T c.(358-360)tAc>tTc p.Y120F BLCA 8 59352268 59352268 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr8:59352268G>A c.610G>A c.(610-612)Gaa>Aaa p.E204K BLCA 8 59358548 59358548 + Missense_Mutation SNP G G T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr8:59358548G>T c.754G>T c.(754-756)Gat>Tat p.D252Y BLCA 8 59358622 59358622 + Silent SNP A A G TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr8:59358622A>G c.828A>G c.(826-828)acA>acG p.T276T BRCA 8 59324005 59324005 + Frame_Shift_Del DEL C C - TCGA-D8-A4Z1-01A-21D-A25Q-09 TCGA-D8-A4Z1-10A-01D-A25Q-09 g.chr8:59324005delC c.61delC c.(61-63)cctfs p.P22fs BRCA 8 59343144 59343144 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:59343144G>A c.255G>A c.(253-255)gtG>gtA p.V85V BRCA 8 59343210 59343210 + Silent SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr8:59343210A>G c.321A>G c.(319-321)tcA>tcG p.S107S BRCA 8 59352284 59352284 + Missense_Mutation SNP G G C TCGA-D8-A27F-01A-11D-A16D-09 TCGA-D8-A27F-10A-01D-A16D-09 g.chr8:59352284G>C c.626G>C c.(625-627)aGa>aCa p.R209T BRCA 8 59358548 59358548 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr8:59358548G>A c.754G>A c.(754-756)Gat>Aat p.D252N CESC 8 59345735 59345735 + Missense_Mutation SNP G G A TCGA-EA-A3QE-01A-21D-A21Q-09 TCGA-EA-A3QE-10A-01D-A21Q-09 g.chr8:59345735G>A c.356G>A c.(355-357)gGa>gAa p.G119E COAD 8 59352218 59352218 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:59352218T>G c.560T>G c.(559-561)cTt>cGt p.L187R COAD 8 59352253 59352253 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr8:59352253G>A c.595G>A c.(595-597)Gat>Aat p.D199N COAD 8 59352254 59352254 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:59352254A>G c.596A>G c.(595-597)gAt>gGt p.D199G COAD 8 59352255 59352255 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr8:59352255T>C c.597T>C c.(595-597)gaT>gaC p.D199D COAD 8 59358548 59358548 + Missense_Mutation SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr8:59358548G>T c.754G>T c.(754-756)Gat>Tat p.D252Y COAD 8 59359961 59359961 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr8:59359961C>T c.847C>T c.(847-849)Cgg>Tgg p.R283W COADREAD 8 59352218 59352218 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr8:59352218T>G c.560T>G c.(559-561)cTt>cGt p.L187R COADREAD 8 59352253 59352253 + Missense_Mutation SNP G G A TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr8:59352253G>A c.595G>A c.(595-597)Gat>Aat p.D199N COADREAD 8 59352254 59352254 + Missense_Mutation SNP A A G TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr8:59352254A>G c.596A>G c.(595-597)gAt>gGt p.D199G COADREAD 8 59352255 59352255 + Silent SNP T T C TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr8:59352255T>C c.597T>C c.(595-597)gaT>gaC p.D199D COADREAD 8 59358548 59358548 + Missense_Mutation SNP G G T TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr8:59358548G>T c.754G>T c.(754-756)Gat>Tat p.D252Y COADREAD 8 59358550 59358550 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr8:59358550T>C c.756T>C c.(754-756)gaT>gaC p.D252D COADREAD 8 59358570 59358570 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59358570T>A c.776T>A c.(775-777)aTt>aAt p.I259N COADREAD 8 59359961 59359961 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr8:59359961C>T c.847C>T c.(847-849)Cgg>Tgg p.R283W DLBC 8 59329407 59329407 + Splice_Site SNP A A T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr8:59329407A>T c.e2-1 DLBC 8 59329496 59329496 + Missense_Mutation SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr8:59329496C>T c.172C>T c.(172-174)Cgg>Tgg p.R58W DLBC 8 59358556 59358556 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr8:59358556G>A c.762G>A c.(760-762)gtG>gtA p.V254V GBM 8 59345800 59345800 + Missense_Mutation SNP G G T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr8:59345800G>T c.421G>T c.(421-423)Gat>Tat p.D141Y GBMLGG 8 59345800 59345800 + Missense_Mutation SNP G G T TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr8:59345800G>T c.421G>T c.(421-423)Gat>Tat p.D141Y HNSC 8 59352288 59352288 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 g.chr8:59352288G>A c.630G>A c.(628-630)ttG>ttA p.L210L HNSC 8 59358527 59358527 + Missense_Mutation SNP A A C TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr8:59358527A>C c.733A>C c.(733-735)Aat>Cat p.N245H HNSC 8 59359986 59359986 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr8:59359986C>T c.872C>T c.(871-873)cCt>cTt p.P291L KIPAN 8 59343157 59343158 + In_Frame_Ins INS - - AAG TCGA-5P-A9KH-01A-11D-A42J-10 TCGA-5P-A9KH-10A-01D-A42M-10 g.chr8:59343157_59343158insAAG c.268_269insAAG c.(268-270)aaa>aAAGaa p.91_92insE KIRP 8 59343157 59343158 + In_Frame_Ins INS - - AAG TCGA-5P-A9KH-01A-11D-A42J-10 TCGA-5P-A9KH-10A-01D-A42M-10 g.chr8:59343157_59343158insAAG c.268_269insAAG c.(268-270)aaa>aAAGaa p.91_92insE LUAD 8 59329441 59329441 + Silent SNP G G A TCGA-78-7167-01A-11D-2063-08 TCGA-78-7167-11A-01D-2063-08 g.chr8:59329441G>A c.117G>A c.(115-117)gtG>gtA p.V39V LUAD 8 59347001 59347001 + Missense_Mutation SNP T T A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr8:59347001T>A c.471T>A c.(469-471)gaT>gaA p.D157E LUAD 8 59358506 59358506 + Missense_Mutation SNP G G C TCGA-73-7499-01A-11D-2184-08 TCGA-73-7499-10A-01D-2184-08 g.chr8:59358506G>C c.712G>C c.(712-714)Gag>Cag p.E238Q LUAD 8 59358602 59358602 + Missense_Mutation SNP A A T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr8:59358602A>T c.808A>T c.(808-810)Ata>Tta p.I270L OV 8 59352253 59352253 + Missense_Mutation SNP G G A TCGA-24-1562-01A-01W-0553-09 TCGA-24-1562-10A-01W-0553-09 g.chr8:59352253G>A c.595G>A c.(595-597)Gat>Aat p.D199N OV 8 59358548 59358548 + Missense_Mutation SNP G G A TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr8:59358548G>A c.754G>A c.(754-756)Gat>Aat p.D252N PAAD 8 59360082 59360082 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:59360082A>G c.968A>G c.(967-969)aAc>aGc p.N323S PRAD 8 59343160 59343160 + Nonsense_Mutation SNP G G T TCGA-KK-A8IB-01A-11D-A364-08 TCGA-KK-A8IB-11A-11D-A362-08 g.chr8:59343160G>T c.271G>T c.(271-273)Gag>Tag p.E91* PRAD 8 59359995 59359995 + Missense_Mutation SNP C C T TCGA-YL-A8SC-01A-11D-A377-08 TCGA-YL-A8SC-10A-01D-A37A-08 g.chr8:59359995C>T c.881C>T c.(880-882)gCg>gTg p.A294V READ 8 59358550 59358550 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr8:59358550T>C c.756T>C c.(754-756)gaT>gaC p.D252D READ 8 59358570 59358570 + Missense_Mutation SNP T T A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr8:59358570T>A c.776T>A c.(775-777)aTt>aAt p.I259N SKCM 8 59329508 59329508 + Nonsense_Mutation SNP C C T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr8:59329508C>T c.184C>T c.(184-186)Caa>Taa p.Q62* SKCM 8 59345768 59345768 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr8:59345768C>T c.389C>T c.(388-390)tCt>tTt p.S130F SKCM 8 59352256 59352256 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr8:59352256C>T c.598C>T c.(598-600)Cat>Tat p.H200Y

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 8 59345738 59345738 single base substitution A T exon_variant BLCA-US 8 59345738 59345738 single base substitution A T missense_variant Y120F 359A>T BLCA-US 8 59345738 59345738 single base substitution A T missense_variant Y65F 194A>T BOCA-FR 8 59333027 59333027 single base substitution C T intron_variant BRCA-EU 8 59318957 59318957 single base substitution T C upstream_gene_variant BRCA-EU 8 59319069 59319080 multiple base substitution (>=2bp and <=200bp) GTATAATTTAGT GCA upstream_gene_variant BRCA-EU 8 59319647 59319647 single base substitution C G upstream_gene_variant BRCA-EU 8 59319788 59319788 single base substitution T G upstream_gene_variant BRCA-EU 8 59319844 59319844 insertion of <=200bp - T upstream_gene_variant BRCA-EU 8 59319990 59319990 single base substitution C A upstream_gene_variant BRCA-EU 8 59320207 59320207 single base substitution G T upstream_gene_variant BRCA-EU 8 59320443 59320443 single base substitution C A upstream_gene_variant BRCA-EU 8 59321010 59321010 single base substitution C G upstream_gene_variant BRCA-EU 8 59321136 59321136 single base substitution C T upstream_gene_variant BRCA-EU 8 59322015 59322015 single base substitution T A upstream_gene_variant BRCA-EU 8 59322176 59322176 single base substitution A G upstream_gene_variant BRCA-EU 8 59322385 59322385 single base substitution T C upstream_gene_variant BRCA-EU 8 59324335 59324335 single base substitution T C intron_variant BRCA-EU 8 59325056 59325056 single base substitution C G intron_variant BRCA-EU 8 59325056 59325056 single base substitution C G upstream_gene_variant BRCA-EU 8 59326801 59326801 single base substitution G T intron_variant BRCA-EU 8 59326801 59326801 single base substitution G T upstream_gene_variant BRCA-EU 8 59327318 59327318 single base substitution G A intron_variant BRCA-EU 8 59327318 59327318 single base substitution G A upstream_gene_variant BRCA-EU 8 59327771 59327771 single base substitution T A intron_variant BRCA-EU 8 59327771 59327771 single base substitution T A upstream_gene_variant BRCA-EU 8 59329335 59329335 single base substitution T C intron_variant BRCA-EU 8 59329335 59329335 single base substitution T C upstream_gene_variant BRCA-EU 8 59329990 59329990 single base substitution T C intron_variant BRCA-EU 8 59332095 59332095 single base substitution T G intron_variant BRCA-EU 8 59333257 59333257 single base substitution G A intron_variant BRCA-EU 8 59334099 59334099 single base substitution G C intron_variant BRCA-EU 8 59335147 59335147 single base substitution G A intron_variant BRCA-EU 8 59336191 59336191 single base substitution T G intron_variant BRCA-EU 8 59336225 59336225 single base substitution A T intron_variant BRCA-EU 8 59337686 59337686 single base substitution G A intron_variant BRCA-EU 8 59337732 59337732 single base substitution T C intron_variant BRCA-EU 8 59341334 59341334 single base substitution G A intron_variant BRCA-EU 8 59342839 59342839 deletion of <=200bp G - intron_variant BRCA-EU 8 59347023 59347023 single base substitution G A 3_prime_UTR_variant BRCA-EU 8 59347023 59347023 single base substitution G A exon_variant BRCA-EU 8 59347023 59347023 single base substitution G A missense_variant E110K 328G>A BRCA-EU 8 59347023 59347023 single base substitution G A missense_variant E165K 493G>A BRCA-EU 8 59348421 59348421 single base substitution C G downstream_gene_variant BRCA-EU 8 59348421 59348421 single base substitution C G intron_variant BRCA-EU 8 59348516 59348516 single base substitution A G downstream_gene_variant BRCA-EU 8 59348516 59348516 single base substitution A G intron_variant BRCA-EU 8 59349814 59349814 single base substitution C G downstream_gene_variant BRCA-EU 8 59349814 59349814 single base substitution C G intron_variant BRCA-EU 8 59351819 59351819 single base substitution C G downstream_gene_variant BRCA-EU 8 59351819 59351819 single base substitution C G intron_variant BRCA-EU 8 59351892 59351892 single base substitution C G downstream_gene_variant BRCA-EU 8 59351892 59351892 single base substitution C G intron_variant BRCA-EU 8 59352170 59352170 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 59352170 59352170 deletion of <=200bp T - intron_variant BRCA-EU 8 59355434 59355434 deletion of <=200bp C - intron_variant BRCA-EU 8 59356791 59356791 single base substitution A C intron_variant BRCA-EU 8 59357255 59357255 single base substitution T G intron_variant BRCA-EU 8 59357396 59357396 single base substitution A G intron_variant BRCA-EU 8 59359967 59359967 single base substitution T A 3_prime_UTR_variant BRCA-EU 8 59359967 59359967 single base substitution T A downstream_gene_variant BRCA-EU 8 59359967 59359967 single base substitution T A missense_variant F285I 853T>A BRCA-EU 8 59360265 59360265 single base substitution A G 3_prime_UTR_variant BRCA-EU 8 59360265 59360265 single base substitution A G downstream_gene_variant BRCA-EU 8 59361767 59361767 single base substitution C A 3_prime_UTR_variant BRCA-EU 8 59361767 59361767 single base substitution C A downstream_gene_variant BRCA-EU 8 59363647 59363647 single base substitution C G 3_prime_UTR_variant BRCA-EU 8 59363647 59363647 single base substitution C G downstream_gene_variant BRCA-EU 8 59365872 59365872 single base substitution G A downstream_gene_variant BRCA-EU 8 59366421 59366421 single base substitution C T downstream_gene_variant BRCA-EU 8 59367509 59367509 single base substitution G A downstream_gene_variant BRCA-EU 8 59367717 59367717 single base substitution G A downstream_gene_variant BRCA-EU 8 59367969 59367969 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 59368964 59368964 single base substitution G A downstream_gene_variant BRCA-FR 8 59320207 59320207 single base substitution G T upstream_gene_variant BRCA-FR 8 59336065 59336065 single base substitution G A intron_variant BRCA-FR 8 59337686 59337686 single base substitution G A intron_variant BRCA-FR 8 59347023 59347023 single base substitution G A 3_prime_UTR_variant BRCA-FR 8 59347023 59347023 single base substitution G A exon_variant BRCA-FR 8 59347023 59347023 single base substitution G A missense_variant E110K 328G>A BRCA-FR 8 59347023 59347023 single base substitution G A missense_variant E165K 493G>A BRCA-FR 8 59365872 59365872 single base substitution G A downstream_gene_variant BRCA-FR 8 59368800 59368800 single base substitution G A downstream_gene_variant BRCA-UK 8 59319689 59319689 single base substitution C T upstream_gene_variant BRCA-UK 8 59334099 59334099 single base substitution G C intron_variant BRCA-UK 8 59335003 59335003 single base substitution C G intron_variant BRCA-UK 8 59353463 59353463 single base substitution C G intron_variant BRCA-US 8 59324005 59324005 deletion of <=200bp C - exon_variant BRCA-US 8 59324005 59324005 deletion of <=200bp C - frameshift_variant P21 BRCA-US 8 59343144 59343144 single base substitution G A exon_variant BRCA-US 8 59343144 59343144 single base substitution G A intron_variant BRCA-US 8 59343144 59343144 single base substitution G A synonymous_variant V30V 90G>A BRCA-US 8 59343144 59343144 single base substitution G A synonymous_variant V85V 255G>A BRCA-US 8 59343210 59343210 single base substitution A G exon_variant BRCA-US 8 59343210 59343210 single base substitution A G intron_variant BRCA-US 8 59343210 59343210 single base substitution A G synonymous_variant S107S 321A>G BRCA-US 8 59343210 59343210 single base substitution A G synonymous_variant S52S 156A>G BRCA-US 8 59352284 59352284 single base substitution G C 3_prime_UTR_variant BRCA-US 8 59352284 59352284 single base substitution G C downstream_gene_variant BRCA-US 8 59352284 59352284 single base substitution G C missense_variant R209T 626G>C BRCA-US 8 59358548 59358548 single base substitution G A 3_prime_UTR_variant BRCA-US 8 59358548 59358548 single base substitution G A missense_variant D252N 754G>A BTCA-JP 8 59359973 59359973 single base substitution G T 3_prime_UTR_variant BTCA-JP 8 59359973 59359973 single base substitution G T downstream_gene_variant BTCA-JP 8 59359973 59359973 single base substitution G T missense_variant V287L 859G>T CESC-US 8 59345735 59345735 single base substitution G A exon_variant CESC-US 8 59345735 59345735 single base substitution G A missense_variant G119E 356G>A CESC-US 8 59345735 59345735 single base substitution G A missense_variant G64E 191G>A COAD-US 8 59329438 59329438 single base substitution A G exon_variant COAD-US 8 59329438 59329438 single base substitution A G synonymous_variant E38E 114A>G COAD-US 8 59329438 59329438 single base substitution A G upstream_gene_variant COCA-CN 8 59322901 59322901 single base substitution G A upstream_gene_variant COCA-CN 8 59329438 59329438 single base substitution A G exon_variant COCA-CN 8 59329438 59329438 single base substitution A G synonymous_variant E38E 114A>G COCA-CN 8 59329438 59329438 single base substitution A G upstream_gene_variant COCA-CN 8 59334881 59334881 single base substitution G A intron_variant COCA-CN 8 59345745 59345745 single base substitution G T exon_variant COCA-CN 8 59345745 59345745 single base substitution G T missense_variant L122F 366G>T COCA-CN 8 59345745 59345745 single base substitution G T missense_variant L67F 201G>T COCA-CN 8 59347184 59347184 single base substitution A G intron_variant COCA-CN 8 59347262 59347262 single base substitution T G intron_variant COCA-CN 8 59358037 59358037 single base substitution T C intron_variant COCA-CN 8 59360214 59360214 single base substitution T C 3_prime_UTR_variant COCA-CN 8 59360214 59360214 single base substitution T C downstream_gene_variant EOPC-DE 8 59359973 59359973 single base substitution G A 3_prime_UTR_variant EOPC-DE 8 59359973 59359973 single base substitution G A downstream_gene_variant EOPC-DE 8 59359973 59359973 single base substitution G A missense_variant V287I 859G>A ESAD-UK 8 59319054 59319054 single base substitution T C upstream_gene_variant ESAD-UK 8 59319536 59319536 single base substitution T A upstream_gene_variant ESAD-UK 8 59319545 59319545 single base substitution A C upstream_gene_variant ESAD-UK 8 59320083 59320083 single base substitution T A upstream_gene_variant ESAD-UK 8 59320861 59320861 single base substitution C T upstream_gene_variant ESAD-UK 8 59320872 59320872 single base substitution C A upstream_gene_variant ESAD-UK 8 59320900 59320900 single base substitution G T upstream_gene_variant ESAD-UK 8 59320924 59320924 single base substitution A G upstream_gene_variant ESAD-UK 8 59322110 59322110 insertion of <=200bp - T upstream_gene_variant ESAD-UK 8 59322699 59322699 single base substitution C T upstream_gene_variant ESAD-UK 8 59322916 59322916 single base substitution G A upstream_gene_variant ESAD-UK 8 59323248 59323248 insertion of <=200bp - TA upstream_gene_variant ESAD-UK 8 59323344 59323350 deletion of <=200bp TATATAT - upstream_gene_variant ESAD-UK 8 59325655 59325655 single base substitution C T intron_variant ESAD-UK 8 59325655 59325655 single base substitution C T upstream_gene_variant ESAD-UK 8 59325773 59325773 single base substitution G A intron_variant ESAD-UK 8 59325773 59325773 single base substitution G A upstream_gene_variant ESAD-UK 8 59327457 59327457 single base substitution G T intron_variant ESAD-UK 8 59327457 59327457 single base substitution G T upstream_gene_variant ESAD-UK 8 59327732 59327732 single base substitution C T intron_variant ESAD-UK 8 59327732 59327732 single base substitution C T upstream_gene_variant ESAD-UK 8 59328637 59328637 single base substitution A C intron_variant ESAD-UK 8 59328637 59328637 single base substitution A C upstream_gene_variant ESAD-UK 8 59329306 59329306 single base substitution C T intron_variant ESAD-UK 8 59329306 59329306 single base substitution C T upstream_gene_variant ESAD-UK 8 59329724 59329724 single base substitution A G intron_variant ESAD-UK 8 59330144 59330144 single base substitution G A intron_variant ESAD-UK 8 59331471 59331471 single base substitution A C intron_variant ESAD-UK 8 59331667 59331667 single base substitution A C intron_variant ESAD-UK 8 59331847 59331847 single base substitution C T intron_variant ESAD-UK 8 59336827 59336827 single base substitution C T intron_variant ESAD-UK 8 59337974 59337974 single base substitution G A intron_variant ESAD-UK 8 59338979 59338979 single base substitution G A intron_variant ESAD-UK 8 59339076 59339076 single base substitution G A intron_variant ESAD-UK 8 59340022 59340022 insertion of <=200bp - A intron_variant ESAD-UK 8 59340068 59340068 single base substitution G A intron_variant ESAD-UK 8 59342955 59342955 single base substitution T C intron_variant ESAD-UK 8 59344315 59344315 single base substitution G C intron_variant ESAD-UK 8 59344715 59344715 single base substitution T G intron_variant ESAD-UK 8 59348986 59348986 single base substitution A C downstream_gene_variant ESAD-UK 8 59348986 59348986 single base substitution A C intron_variant ESAD-UK 8 59350697 59350697 single base substitution A C downstream_gene_variant ESAD-UK 8 59350697 59350697 single base substitution A C intron_variant ESAD-UK 8 59351516 59351516 single base substitution T C downstream_gene_variant ESAD-UK 8 59351516 59351516 single base substitution T C intron_variant ESAD-UK 8 59352159 59352159 single base substitution T G downstream_gene_variant ESAD-UK 8 59352159 59352159 single base substitution T G intron_variant ESAD-UK 8 59352164 59352164 single base substitution G A downstream_gene_variant ESAD-UK 8 59352164 59352164 single base substitution G A intron_variant ESAD-UK 8 59353764 59353764 single base substitution G A intron_variant ESAD-UK 8 59356368 59356368 single base substitution G C intron_variant ESAD-UK 8 59356660 59356660 single base substitution A G intron_variant ESAD-UK 8 59356762 59356762 single base substitution C T intron_variant ESAD-UK 8 59357795 59357795 single base substitution A G intron_variant ESAD-UK 8 59359441 59359441 single base substitution C A downstream_gene_variant ESAD-UK 8 59359441 59359441 single base substitution C A intron_variant ESAD-UK 8 59359773 59359773 single base substitution A G downstream_gene_variant ESAD-UK 8 59359773 59359773 single base substitution A G intron_variant ESAD-UK 8 59360389 59360389 single base substitution A T 3_prime_UTR_variant ESAD-UK 8 59360389 59360389 single base substitution A T downstream_gene_variant ESAD-UK 8 59364851 59364852 deletion of <=200bp AC - downstream_gene_variant ESCA-CN 8 59337247 59337247 deletion of <=200bp G - intron_variant GBM-US 8 59345800 59345800 single base substitution G T missense_variant D141Y 421G>T GBM-US 8 59345800 59345800 single base substitution G T missense_variant D86Y 256G>T GBM-US 8 59345800 59345800 single base substitution G T splice_region_variant LICA-FR 8 59322370 59322370 single base substitution C T upstream_gene_variant LICA-FR 8 59334350 59334350 single base substitution T G intron_variant LICA-FR 8 59343686 59343686 single base substitution T C intron_variant LICA-FR 8 59345770 59345770 single base substitution G T exon_variant LICA-FR 8 59345770 59345770 single base substitution G T stop_gained E131* 391G>T LICA-FR 8 59345770 59345770 single base substitution G T stop_gained E76* 226G>T LINC-JP 8 59323856 59323856 single base substitution G A 5_prime_UTR_variant LINC-JP 8 59323856 59323856 single base substitution G A upstream_gene_variant LINC-JP 8 59329474 59329474 single base substitution A G exon_variant LINC-JP 8 59329474 59329474 single base substitution A G synonymous_variant K50K 150A>G LINC-JP 8 59329474 59329474 single base substitution A G upstream_gene_variant LINC-JP 8 59339452 59339452 deletion of <=200bp T - intron_variant LINC-JP 8 59341575 59341575 single base substitution A G intron_variant LINC-JP 8 59342676 59342676 single base substitution C G intron_variant LINC-JP 8 59343644 59343644 single base substitution T G intron_variant LINC-JP 8 59353968 59353968 single base substitution T A intron_variant LINC-JP 8 59359973 59359973 single base substitution G T 3_prime_UTR_variant LINC-JP 8 59359973 59359973 single base substitution G T downstream_gene_variant LINC-JP 8 59359973 59359973 single base substitution G T missense_variant V287L 859G>T LINC-JP 8 59365452 59365452 insertion of <=200bp - T downstream_gene_variant LINC-JP 8 59366350 59366350 single base substitution G T downstream_gene_variant LIRI-JP 8 59318855 59318855 single base substitution G A upstream_gene_variant LIRI-JP 8 59319764 59319764 single base substitution C T upstream_gene_variant LIRI-JP 8 59320235 59320235 single base substitution C T upstream_gene_variant LIRI-JP 8 59320800 59320800 single base substitution C T upstream_gene_variant LIRI-JP 8 59320970 59320970 single base substitution T C upstream_gene_variant LIRI-JP 8 59323690 59323690 single base substitution G A upstream_gene_variant LIRI-JP 8 59324602 59324602 single base substitution C T intron_variant LIRI-JP 8 59324602 59324602 single base substitution C T upstream_gene_variant LIRI-JP 8 59326133 59326133 single base substitution A G intron_variant LIRI-JP 8 59326133 59326133 single base substitution A G upstream_gene_variant LIRI-JP 8 59331010 59331010 single base substitution T C intron_variant LIRI-JP 8 59332587 59332587 single base substitution A G intron_variant LIRI-JP 8 59334359 59334359 insertion of <=200bp - T intron_variant LIRI-JP 8 59334998 59334998 single base substitution A G intron_variant LIRI-JP 8 59336216 59336216 single base substitution G A intron_variant LIRI-JP 8 59336523 59336523 single base substitution A C intron_variant LIRI-JP 8 59337206 59337206 single base substitution C G intron_variant LIRI-JP 8 59337588 59337588 single base substitution C T intron_variant LIRI-JP 8 59337928 59337928 single base substitution G T intron_variant LIRI-JP 8 59340060 59340060 single base substitution A G intron_variant LIRI-JP 8 59340384 59340384 single base substitution A G intron_variant LIRI-JP 8 59341810 59341810 single base substitution G C intron_variant LIRI-JP 8 59342062 59342062 single base substitution G C intron_variant LIRI-JP 8 59343928 59343928 single base substitution C T intron_variant LIRI-JP 8 59346719 59346719 single base substitution A T intron_variant LIRI-JP 8 59347490 59347490 single base substitution G A 3_prime_UTR_variant LIRI-JP 8 59347490 59347490 single base substitution G A exon_variant LIRI-JP 8 59347490 59347490 single base substitution G A intron_variant LIRI-JP 8 59351296 59351296 single base substitution C T downstream_gene_variant LIRI-JP 8 59351296 59351296 single base substitution C T intron_variant LIRI-JP 8 59353302 59353302 single base substitution T A intron_variant LIRI-JP 8 59353544 59353544 single base substitution C T intron_variant LIRI-JP 8 59356827 59356827 single base substitution A G intron_variant LIRI-JP 8 59357588 59357588 single base substitution A G intron_variant LIRI-JP 8 59357884 59357884 single base substitution T C intron_variant LIRI-JP 8 59358809 59358809 single base substitution A G downstream_gene_variant LIRI-JP 8 59358809 59358809 single base substitution A G intron_variant LIRI-JP 8 59359796 59359796 single base substitution A G downstream_gene_variant LIRI-JP 8 59359796 59359796 single base substitution A G intron_variant LIRI-JP 8 59359850 59359850 single base substitution A C downstream_gene_variant LIRI-JP 8 59359850 59359850 single base substitution A C intron_variant LIRI-JP 8 59361077 59361077 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 59361077 59361077 single base substitution A G downstream_gene_variant LIRI-JP 8 59362766 59362766 single base substitution A T 3_prime_UTR_variant LIRI-JP 8 59362766 59362766 single base substitution A T downstream_gene_variant LIRI-JP 8 59363316 59363316 single base substitution A G 3_prime_UTR_variant LIRI-JP 8 59363316 59363316 single base substitution A G downstream_gene_variant LIRI-JP 8 59364688 59364688 single base substitution C T downstream_gene_variant LIRI-JP 8 59364765 59364765 single base substitution T C downstream_gene_variant LUSC-CN 8 59338529 59338529 single base substitution C T intron_variant LUSC-KR 8 59318956 59318956 single base substitution C A upstream_gene_variant LUSC-KR 8 59323809 59323809 single base substitution G A upstream_gene_variant LUSC-KR 8 59323961 59323961 single base substitution G T exon_variant LUSC-KR 8 59323961 59323961 single base substitution G T missense_variant G6V 17G>T LUSC-KR 8 59324212 59324212 single base substitution G T intron_variant LUSC-KR 8 59326242 59326242 single base substitution C T intron_variant LUSC-KR 8 59326242 59326242 single base substitution C T upstream_gene_variant LUSC-KR 8 59328916 59328916 single base substitution C T intron_variant LUSC-KR 8 59328916 59328916 single base substitution C T upstream_gene_variant LUSC-KR 8 59334597 59334597 single base substitution A G intron_variant LUSC-KR 8 59337096 59337096 single base substitution G A intron_variant LUSC-KR 8 59337258 59337258 single base substitution C G intron_variant LUSC-KR 8 59337273 59337273 single base substitution G A intron_variant LUSC-KR 8 59338471 59338471 single base substitution C T intron_variant LUSC-KR 8 59338827 59338827 single base substitution A G intron_variant LUSC-KR 8 59346193 59346193 single base substitution T G intron_variant LUSC-KR 8 59346499 59346499 single base substitution G T intron_variant LUSC-KR 8 59347442 59347442 single base substitution G A exon_variant LUSC-KR 8 59347442 59347442 single base substitution G A intron_variant LUSC-KR 8 59347442 59347442 single base substitution G A missense_variant E132K 394G>A LUSC-KR 8 59352352 59352352 single base substitution A C downstream_gene_variant LUSC-KR 8 59352352 59352352 single base substitution A C intron_variant LUSC-KR 8 59353328 59353328 single base substitution C T intron_variant LUSC-KR 8 59355389 59355389 single base substitution G A intron_variant LUSC-KR 8 59357643 59357643 single base substitution G C intron_variant LUSC-KR 8 59359472 59359472 single base substitution C G downstream_gene_variant LUSC-KR 8 59359472 59359472 single base substitution C G intron_variant LUSC-KR 8 59360726 59360726 single base substitution G C 3_prime_UTR_variant LUSC-KR 8 59360726 59360726 single base substitution G C downstream_gene_variant LUSC-KR 8 59362508 59362508 single base substitution C G 3_prime_UTR_variant LUSC-KR 8 59362508 59362508 single base substitution C G downstream_gene_variant LUSC-KR 8 59365731 59365731 single base substitution A T downstream_gene_variant LUSC-KR 8 59367281 59367281 single base substitution A T downstream_gene_variant MALY-DE 8 59323228 59323231 deletion of <=200bp TATA - upstream_gene_variant MALY-DE 8 59325832 59325832 single base substitution C T intron_variant MALY-DE 8 59325832 59325832 single base substitution C T upstream_gene_variant MALY-DE 8 59334596 59334599 deletion of <=200bp AAAC - intron_variant MALY-DE 8 59342702 59342704 deletion of <=200bp CTT - intron_variant MALY-DE 8 59349790 59349790 single base substitution A T downstream_gene_variant MALY-DE 8 59349790 59349790 single base substitution A T intron_variant MALY-DE 8 59350363 59350363 single base substitution A C downstream_gene_variant MALY-DE 8 59350363 59350363 single base substitution A C intron_variant MALY-DE 8 59353963 59353963 insertion of <=200bp - T intron_variant MALY-DE 8 59355194 59355194 single base substitution G T intron_variant MALY-DE 8 59358396 59358396 single base substitution T A intron_variant MELA-AU 8 59318838 59318838 single base substitution G A upstream_gene_variant MELA-AU 8 59318935 59318935 single base substitution G A upstream_gene_variant MELA-AU 8 59319001 59319001 single base substitution G A upstream_gene_variant MELA-AU 8 59319040 59319040 single base substitution G A upstream_gene_variant MELA-AU 8 59319056 59319056 single base substitution G A upstream_gene_variant MELA-AU 8 59319251 59319251 single base substitution A T upstream_gene_variant MELA-AU 8 59319265 59319265 single base substitution G A upstream_gene_variant MELA-AU 8 59319400 59319400 single base substitution G A upstream_gene_variant MELA-AU 8 59319559 59319559 single base substitution C T upstream_gene_variant MELA-AU 8 59319750 59319750 single base substitution G A upstream_gene_variant MELA-AU 8 59319843 59319843 single base substitution C T upstream_gene_variant MELA-AU 8 59319851 59319851 single base substitution C T upstream_gene_variant MELA-AU 8 59319860 59319860 single base substitution C T upstream_gene_variant MELA-AU 8 59320277 59320277 single base substitution C T upstream_gene_variant MELA-AU 8 59320431 59320431 single base substitution C T upstream_gene_variant MELA-AU 8 59320483 59320483 single base substitution C T upstream_gene_variant MELA-AU 8 59320604 59320604 single base substitution A C upstream_gene_variant MELA-AU 8 59320641 59320641 single base substitution C T upstream_gene_variant MELA-AU 8 59320679 59320679 single base substitution C T upstream_gene_variant MELA-AU 8 59321012 59321012 single base substitution A T upstream_gene_variant MELA-AU 8 59321042 59321043 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 8 59321052 59321052 single base substitution G A upstream_gene_variant MELA-AU 8 59321060 59321060 single base substitution C T upstream_gene_variant MELA-AU 8 59321096 59321096 single base substitution C T upstream_gene_variant MELA-AU 8 59321195 59321195 single base substitution C T upstream_gene_variant MELA-AU 8 59321216 59321216 single base substitution G A upstream_gene_variant MELA-AU 8 59321313 59321313 single base substitution C T upstream_gene_variant MELA-AU 8 59321558 59321558 single base substitution G A upstream_gene_variant MELA-AU 8 59321633 59321633 single base substitution C T upstream_gene_variant MELA-AU 8 59321783 59321783 single base substitution G A upstream_gene_variant MELA-AU 8 59321784 59321784 single base substitution G A upstream_gene_variant MELA-AU 8 59321825 59321825 single base substitution A T upstream_gene_variant MELA-AU 8 59321842 59321842 single base substitution G A upstream_gene_variant MELA-AU 8 59322021 59322021 single base substitution G A upstream_gene_variant MELA-AU 8 59322095 59322095 single base substitution C T upstream_gene_variant MELA-AU 8 59322333 59322334 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 59322344 59322344 single base substitution C T upstream_gene_variant MELA-AU 8 59322443 59322443 single base substitution G A upstream_gene_variant MELA-AU 8 59322496 59322496 single base substitution G A upstream_gene_variant MELA-AU 8 59322573 59322573 single base substitution C T upstream_gene_variant MELA-AU 8 59322667 59322667 single base substitution C T upstream_gene_variant MELA-AU 8 59322740 59322740 single base substitution G A upstream_gene_variant MELA-AU 8 59322926 59322926 single base substitution C T upstream_gene_variant MELA-AU 8 59322990 59322991 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 59323400 59323400 single base substitution C T upstream_gene_variant MELA-AU 8 59323896 59323896 single base substitution G A 5_prime_UTR_variant MELA-AU 8 59323896 59323896 single base substitution G A upstream_gene_variant MELA-AU 8 59323944 59323944 single base substitution G A 5_prime_UTR_variant MELA-AU 8 59323944 59323944 single base substitution G A exon_variant MELA-AU 8 59324351 59324351 single base substitution C T intron_variant MELA-AU 8 59325065 59325065 single base substitution T C intron_variant MELA-AU 8 59325065 59325065 single base substitution T C upstream_gene_variant MELA-AU 8 59325407 59325407 single base substitution C T intron_variant MELA-AU 8 59325407 59325407 single base substitution C T upstream_gene_variant MELA-AU 8 59325717 59325717 single base substitution C T intron_variant MELA-AU 8 59325717 59325717 single base substitution C T upstream_gene_variant MELA-AU 8 59326088 59326088 single base substitution C T intron_variant MELA-AU 8 59326088 59326088 single base substitution C T upstream_gene_variant MELA-AU 8 59326536 59326536 single base substitution C T intron_variant MELA-AU 8 59326536 59326536 single base substitution C T upstream_gene_variant MELA-AU 8 59327181 59327181 single base substitution C T intron_variant MELA-AU 8 59327181 59327181 single base substitution C T upstream_gene_variant MELA-AU 8 59327280 59327280 single base substitution C T intron_variant MELA-AU 8 59327280 59327280 single base substitution C T upstream_gene_variant MELA-AU 8 59328801 59328801 single base substitution A T intron_variant MELA-AU 8 59328801 59328801 single base substitution A T upstream_gene_variant MELA-AU 8 59328953 59328953 single base substitution G A intron_variant MELA-AU 8 59328953 59328953 single base substitution G A upstream_gene_variant MELA-AU 8 59329089 59329089 single base substitution G A intron_variant MELA-AU 8 59329089 59329089 single base substitution G A upstream_gene_variant MELA-AU 8 59329358 59329358 single base substitution G A intron_variant MELA-AU 8 59329358 59329358 single base substitution G A upstream_gene_variant MELA-AU 8 59329635 59329635 single base substitution C T intron_variant MELA-AU 8 59329762 59329762 single base substitution G A intron_variant MELA-AU 8 59329765 59329765 single base substitution A G intron_variant MELA-AU 8 59329771 59329771 single base substitution C T intron_variant MELA-AU 8 59329802 59329802 single base substitution C T intron_variant MELA-AU 8 59330078 59330078 single base substitution C T intron_variant MELA-AU 8 59330442 59330442 single base substitution C T intron_variant MELA-AU 8 59330714 59330714 single base substitution C T intron_variant MELA-AU 8 59330851 59330851 single base substitution T C intron_variant MELA-AU 8 59330972 59330972 single base substitution C T intron_variant MELA-AU 8 59331083 59331083 single base substitution C T intron_variant MELA-AU 8 59331692 59331692 single base substitution T C intron_variant MELA-AU 8 59331819 59331819 single base substitution G A intron_variant MELA-AU 8 59334009 59334009 single base substitution T C intron_variant MELA-AU 8 59334691 59334691 single base substitution C T intron_variant MELA-AU 8 59334775 59334775 single base substitution G A intron_variant MELA-AU 8 59335146 59335146 single base substitution C T intron_variant MELA-AU 8 59335234 59335234 single base substitution C T intron_variant MELA-AU 8 59335288 59335288 single base substitution C T intron_variant MELA-AU 8 59335306 59335306 single base substitution C T intron_variant MELA-AU 8 59335392 59335392 single base substitution C T intron_variant MELA-AU 8 59335491 59335491 single base substitution C T intron_variant MELA-AU 8 59335558 59335558 single base substitution C T intron_variant MELA-AU 8 59336559 59336559 single base substitution T G intron_variant MELA-AU 8 59337396 59337396 single base substitution C T intron_variant MELA-AU 8 59337546 59337547 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59337651 59337651 single base substitution C T intron_variant MELA-AU 8 59337733 59337733 single base substitution C G intron_variant MELA-AU 8 59337850 59337850 single base substitution C T intron_variant MELA-AU 8 59337860 59337860 single base substitution C T intron_variant MELA-AU 8 59338141 59338141 single base substitution C T intron_variant MELA-AU 8 59338710 59338710 single base substitution G A intron_variant MELA-AU 8 59339021 59339021 single base substitution C T intron_variant MELA-AU 8 59339206 59339206 single base substitution C T intron_variant MELA-AU 8 59339253 59339253 single base substitution C T intron_variant MELA-AU 8 59339357 59339357 single base substitution G A intron_variant MELA-AU 8 59339775 59339775 single base substitution C T intron_variant MELA-AU 8 59339808 59339808 single base substitution C T intron_variant MELA-AU 8 59340531 59340531 single base substitution A T intron_variant MELA-AU 8 59340539 59340539 single base substitution C T intron_variant MELA-AU 8 59341028 59341028 single base substitution C T intron_variant MELA-AU 8 59341180 59341180 single base substitution C T intron_variant MELA-AU 8 59341379 59341379 single base substitution C T intron_variant MELA-AU 8 59341791 59341791 single base substitution G A intron_variant MELA-AU 8 59342127 59342127 single base substitution C T intron_variant MELA-AU 8 59342478 59342478 single base substitution C T intron_variant MELA-AU 8 59342587 59342587 single base substitution C T intron_variant MELA-AU 8 59342748 59342748 single base substitution C T intron_variant MELA-AU 8 59343121 59343121 single base substitution C T exon_variant MELA-AU 8 59343121 59343121 single base substitution C T intron_variant MELA-AU 8 59343121 59343121 single base substitution C T stop_gained R23* 67C>T MELA-AU 8 59343121 59343121 single base substitution C T stop_gained R78* 232C>T MELA-AU 8 59343599 59343599 single base substitution C T intron_variant MELA-AU 8 59343797 59343797 single base substitution C T intron_variant MELA-AU 8 59344411 59344411 single base substitution C T intron_variant MELA-AU 8 59344667 59344667 single base substitution C T intron_variant MELA-AU 8 59344984 59344984 single base substitution C T intron_variant MELA-AU 8 59345199 59345199 single base substitution C T intron_variant MELA-AU 8 59345540 59345540 single base substitution C T intron_variant MELA-AU 8 59345591 59345591 single base substitution C T intron_variant MELA-AU 8 59345627 59345627 single base substitution T A intron_variant MELA-AU 8 59346290 59346290 single base substitution T C intron_variant MELA-AU 8 59346300 59346301 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59346321 59346322 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 59346630 59346630 single base substitution T A intron_variant MELA-AU 8 59346843 59346843 single base substitution G C intron_variant MELA-AU 8 59347165 59347165 single base substitution C T intron_variant MELA-AU 8 59348093 59348093 single base substitution C T downstream_gene_variant MELA-AU 8 59348093 59348093 single base substitution C T intron_variant MELA-AU 8 59349074 59349074 single base substitution G C downstream_gene_variant MELA-AU 8 59349074 59349074 single base substitution G C intron_variant MELA-AU 8 59349290 59349290 single base substitution C T downstream_gene_variant MELA-AU 8 59349290 59349290 single base substitution C T intron_variant MELA-AU 8 59349377 59349377 single base substitution C T downstream_gene_variant MELA-AU 8 59349377 59349377 single base substitution C T intron_variant MELA-AU 8 59349386 59349386 single base substitution G A downstream_gene_variant MELA-AU 8 59349386 59349386 single base substitution G A intron_variant MELA-AU 8 59349763 59349763 single base substitution G T downstream_gene_variant MELA-AU 8 59349763 59349763 single base substitution G T intron_variant MELA-AU 8 59349889 59349889 single base substitution T C downstream_gene_variant MELA-AU 8 59349889 59349889 single base substitution T C intron_variant MELA-AU 8 59350518 59350518 single base substitution C G downstream_gene_variant MELA-AU 8 59350518 59350518 single base substitution C G intron_variant MELA-AU 8 59350548 59350548 single base substitution G A downstream_gene_variant MELA-AU 8 59350548 59350548 single base substitution G A intron_variant MELA-AU 8 59350853 59350853 single base substitution A T downstream_gene_variant MELA-AU 8 59350853 59350853 single base substitution A T intron_variant MELA-AU 8 59351141 59351141 single base substitution G T downstream_gene_variant MELA-AU 8 59351141 59351141 single base substitution G T intron_variant MELA-AU 8 59351418 59351418 single base substitution C T downstream_gene_variant MELA-AU 8 59351418 59351418 single base substitution C T intron_variant MELA-AU 8 59351487 59351487 single base substitution C T downstream_gene_variant MELA-AU 8 59351487 59351487 single base substitution C T intron_variant MELA-AU 8 59351623 59351623 single base substitution C T downstream_gene_variant MELA-AU 8 59351623 59351623 single base substitution C T intron_variant MELA-AU 8 59351869 59351869 single base substitution C T downstream_gene_variant MELA-AU 8 59351869 59351869 single base substitution C T intron_variant MELA-AU 8 59351877 59351877 single base substitution C T downstream_gene_variant MELA-AU 8 59351877 59351877 single base substitution C T intron_variant MELA-AU 8 59352200 59352200 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59352200 59352200 single base substitution C T downstream_gene_variant MELA-AU 8 59352200 59352200 single base substitution C T missense_variant P181L 542C>T MELA-AU 8 59352256 59352256 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59352256 59352256 single base substitution C T downstream_gene_variant MELA-AU 8 59352256 59352256 single base substitution C T missense_variant H200Y 598C>T MELA-AU 8 59352338 59352338 single base substitution C T downstream_gene_variant MELA-AU 8 59352338 59352338 single base substitution C T intron_variant MELA-AU 8 59352376 59352376 single base substitution T C downstream_gene_variant MELA-AU 8 59352376 59352376 single base substitution T C intron_variant MELA-AU 8 59352827 59352827 single base substitution G T intron_variant MELA-AU 8 59353317 59353317 single base substitution C T intron_variant MELA-AU 8 59353396 59353396 single base substitution C T intron_variant MELA-AU 8 59353553 59353553 single base substitution T C intron_variant MELA-AU 8 59353948 59353948 single base substitution G A intron_variant MELA-AU 8 59354136 59354136 single base substitution C T intron_variant MELA-AU 8 59354281 59354281 single base substitution C T intron_variant MELA-AU 8 59354349 59354349 single base substitution C T intron_variant MELA-AU 8 59354400 59354400 single base substitution A G intron_variant MELA-AU 8 59354404 59354404 single base substitution T A intron_variant MELA-AU 8 59354841 59354841 single base substitution T C intron_variant MELA-AU 8 59355032 59355032 single base substitution A T intron_variant MELA-AU 8 59355344 59355344 single base substitution C T intron_variant MELA-AU 8 59355483 59355483 single base substitution C T intron_variant MELA-AU 8 59355637 59355637 single base substitution G A intron_variant MELA-AU 8 59356371 59356371 single base substitution A T intron_variant MELA-AU 8 59356771 59356771 single base substitution C T intron_variant MELA-AU 8 59357115 59357115 single base substitution C T intron_variant MELA-AU 8 59357286 59357286 single base substitution C T intron_variant MELA-AU 8 59357467 59357467 single base substitution G A intron_variant MELA-AU 8 59357637 59357637 single base substitution C T intron_variant MELA-AU 8 59358196 59358196 single base substitution G A intron_variant MELA-AU 8 59358841 59358864 deletion of <=200bp CAAATACTAATGTGATCTCAGATA - downstream_gene_variant MELA-AU 8 59358841 59358864 deletion of <=200bp CAAATACTAATGTGATCTCAGATA - intron_variant MELA-AU 8 59359368 59359368 single base substitution T A downstream_gene_variant MELA-AU 8 59359368 59359368 single base substitution T A intron_variant MELA-AU 8 59359385 59359385 single base substitution C T downstream_gene_variant MELA-AU 8 59359385 59359385 single base substitution C T intron_variant MELA-AU 8 59360072 59360072 single base substitution G A 3_prime_UTR_variant MELA-AU 8 59360072 59360072 single base substitution G A downstream_gene_variant MELA-AU 8 59360072 59360072 single base substitution G A missense_variant D320N 958G>A MELA-AU 8 59360968 59360969 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 8 59360968 59360969 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 59361537 59361538 multiple base substitution (>=2bp and <=200bp) CC TA 3_prime_UTR_variant MELA-AU 8 59361537 59361538 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 8 59361538 59361538 single base substitution C A 3_prime_UTR_variant MELA-AU 8 59361538 59361538 single base substitution C A downstream_gene_variant MELA-AU 8 59362056 59362056 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59362056 59362056 single base substitution C T downstream_gene_variant MELA-AU 8 59362082 59362082 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59362082 59362082 single base substitution C T downstream_gene_variant MELA-AU 8 59362231 59362231 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59362231 59362231 single base substitution C T downstream_gene_variant MELA-AU 8 59362311 59362311 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59362311 59362311 single base substitution C T downstream_gene_variant MELA-AU 8 59362762 59362762 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59362762 59362762 single base substitution C T downstream_gene_variant MELA-AU 8 59363123 59363123 single base substitution C T 3_prime_UTR_variant MELA-AU 8 59363123 59363123 single base substitution C T downstream_gene_variant MELA-AU 8 59363606 59363607 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 8 59363606 59363607 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 59364239 59364239 single base substitution A G downstream_gene_variant MELA-AU 8 59364253 59364253 single base substitution G A downstream_gene_variant MELA-AU 8 59364323 59364323 single base substitution C T downstream_gene_variant MELA-AU 8 59364394 59364394 single base substitution C T downstream_gene_variant MELA-AU 8 59364646 59364646 single base substitution G A downstream_gene_variant MELA-AU 8 59364716 59364716 single base substitution C T downstream_gene_variant MELA-AU 8 59364784 59364784 single base substitution G T downstream_gene_variant MELA-AU 8 59365075 59365075 single base substitution C T downstream_gene_variant MELA-AU 8 59365572 59365572 single base substitution T G downstream_gene_variant MELA-AU 8 59365816 59365816 single base substitution C T downstream_gene_variant MELA-AU 8 59365980 59365981 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 59365995 59365995 single base substitution C T downstream_gene_variant MELA-AU 8 59367085 59367086 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 8 59367152 59367152 single base substitution G A downstream_gene_variant MELA-AU 8 59367307 59367307 single base substitution C T downstream_gene_variant MELA-AU 8 59367875 59367875 single base substitution C T downstream_gene_variant MELA-AU 8 59368281 59368281 single base substitution C T downstream_gene_variant MELA-AU 8 59368395 59368395 single base substitution C T downstream_gene_variant MELA-AU 8 59368680 59368680 single base substitution C T downstream_gene_variant MELA-AU 8 59368930 59368930 single base substitution T C downstream_gene_variant ORCA-IN 8 59335644 59335644 single base substitution C A intron_variant ORCA-IN 8 59349877 59349877 deletion of <=200bp C - downstream_gene_variant ORCA-IN 8 59349877 59349877 deletion of <=200bp C - intron_variant ORCA-IN 8 59363320 59363320 single base substitution G T 3_prime_UTR_variant ORCA-IN 8 59363320 59363320 single base substitution G T downstream_gene_variant ORCA-IN 8 59368499 59368499 single base substitution G A downstream_gene_variant OV-AU 8 59319663 59319663 single base substitution G C upstream_gene_variant OV-AU 8 59323963 59323963 single base substitution C T exon_variant OV-AU 8 59323963 59323963 single base substitution C T missense_variant P7S 19C>T OV-AU 8 59328093 59328093 single base substitution A G intron_variant OV-AU 8 59328093 59328093 single base substitution A G upstream_gene_variant OV-AU 8 59328736 59328736 single base substitution T A intron_variant OV-AU 8 59328736 59328736 single base substitution T A upstream_gene_variant OV-AU 8 59331745 59331745 single base substitution C A intron_variant OV-AU 8 59334686 59334686 single base substitution G A intron_variant OV-AU 8 59339519 59339519 single base substitution A G intron_variant OV-AU 8 59340306 59340306 single base substitution C G intron_variant OV-AU 8 59342776 59342776 single base substitution G T intron_variant OV-AU 8 59347050 59347050 single base substitution T A 3_prime_UTR_variant OV-AU 8 59347050 59347050 single base substitution T A exon_variant OV-AU 8 59347050 59347050 single base substitution T A missense_variant S119T 355T>A OV-AU 8 59347050 59347050 single base substitution T A missense_variant S174T 520T>A OV-AU 8 59352033 59352033 single base substitution C A downstream_gene_variant OV-AU 8 59352033 59352033 single base substitution C A intron_variant OV-AU 8 59356642 59356642 single base substitution T C intron_variant OV-AU 8 59362231 59362231 single base substitution C A 3_prime_UTR_variant OV-AU 8 59362231 59362231 single base substitution C A downstream_gene_variant OV-AU 8 59364775 59364775 single base substitution C G downstream_gene_variant OV-AU 8 59365787 59365787 single base substitution G T downstream_gene_variant OV-AU 8 59368993 59368993 single base substitution T C downstream_gene_variant OV-US 8 59352253 59352253 single base substitution G A 3_prime_UTR_variant OV-US 8 59352253 59352253 single base substitution G A downstream_gene_variant OV-US 8 59352253 59352253 single base substitution G A missense_variant D199N 595G>A PACA-AU 8 59323352 59323352 single base substitution T A upstream_gene_variant PACA-AU 8 59323631 59323631 single base substitution A G upstream_gene_variant PACA-AU 8 59323909 59323909 single base substitution G A 5_prime_UTR_variant PACA-AU 8 59323909 59323909 single base substitution G A upstream_gene_variant PACA-AU 8 59326584 59326584 single base substitution G A intron_variant PACA-AU 8 59326584 59326584 single base substitution G A upstream_gene_variant PACA-AU 8 59327598 59327598 single base substitution G A intron_variant PACA-AU 8 59327598 59327598 single base substitution G A upstream_gene_variant PACA-AU 8 59334597 59334597 single base substitution A G intron_variant PACA-AU 8 59336056 59336056 single base substitution G A intron_variant PACA-AU 8 59337754 59337754 single base substitution C T intron_variant PACA-AU 8 59339310 59339310 single base substitution C T intron_variant PACA-AU 8 59341696 59341696 single base substitution G A intron_variant PACA-AU 8 59343265 59343265 single base substitution A G intron_variant PACA-AU 8 59348428 59348428 single base substitution G A downstream_gene_variant PACA-AU 8 59348428 59348428 single base substitution G A intron_variant PACA-AU 8 59350272 59350272 single base substitution G T downstream_gene_variant PACA-AU 8 59350272 59350272 single base substitution G T intron_variant PACA-AU 8 59351330 59351330 single base substitution T A downstream_gene_variant PACA-AU 8 59351330 59351330 single base substitution T A intron_variant PACA-AU 8 59356599 59356599 single base substitution G C intron_variant PACA-AU 8 59357224 59357224 single base substitution C T intron_variant PACA-AU 8 59357919 59357919 single base substitution G C intron_variant PACA-AU 8 59358268 59358268 single base substitution G T intron_variant PACA-AU 8 59367360 59367383 deletion of <=200bp GCACTTTGGGAGGCCAAGGCCGGC - downstream_gene_variant PACA-CA 8 59320741 59320741 single base substitution A G upstream_gene_variant PACA-CA 8 59321176 59321176 single base substitution C T upstream_gene_variant PACA-CA 8 59326300 59326300 single base substitution A C intron_variant PACA-CA 8 59326300 59326300 single base substitution A C upstream_gene_variant PACA-CA 8 59327114 59327114 deletion of <=200bp T - intron_variant PACA-CA 8 59327114 59327114 deletion of <=200bp T - upstream_gene_variant PACA-CA 8 59334669 59334669 single base substitution G C intron_variant PACA-CA 8 59337760 59337760 single base substitution T G intron_variant PACA-CA 8 59343144 59343144 single base substitution G A exon_variant PACA-CA 8 59343144 59343144 single base substitution G A intron_variant PACA-CA 8 59343144 59343144 single base substitution G A synonymous_variant V30V 90G>A PACA-CA 8 59343144 59343144 single base substitution G A synonymous_variant V85V 255G>A PACA-CA 8 59346319 59346319 single base substitution A T intron_variant PACA-CA 8 59351676 59351676 single base substitution G C downstream_gene_variant PACA-CA 8 59351676 59351676 single base substitution G C intron_variant PACA-CA 8 59355248 59355248 single base substitution T C intron_variant PACA-CA 8 59358899 59358899 single base substitution G A downstream_gene_variant PACA-CA 8 59358899 59358899 single base substitution G A intron_variant PACA-CA 8 59359786 59359786 single base substitution A G downstream_gene_variant PACA-CA 8 59359786 59359786 single base substitution A G intron_variant PACA-CA 8 59361260 59361260 single base substitution C T 3_prime_UTR_variant PACA-CA 8 59361260 59361260 single base substitution C T downstream_gene_variant PAEN-AU 8 59343059 59343059 single base substitution T G intron_variant PAEN-IT 8 59324976 59324976 single base substitution C T intron_variant PAEN-IT 8 59324976 59324976 single base substitution C T upstream_gene_variant PBCA-DE 8 59321176 59321176 single base substitution C T upstream_gene_variant PBCA-DE 8 59328613 59328613 single base substitution T G intron_variant PBCA-DE 8 59328613 59328613 single base substitution T G upstream_gene_variant PBCA-DE 8 59332633 59332633 single base substitution T A intron_variant PBCA-DE 8 59332634 59332634 single base substitution C A intron_variant PBCA-DE 8 59341676 59341676 single base substitution G T intron_variant PBCA-DE 8 59341809 59341809 single base substitution C T intron_variant PBCA-DE 8 59343083 59343083 single base substitution A G exon_variant PBCA-DE 8 59343083 59343083 single base substitution A G intron_variant PBCA-DE 8 59343083 59343083 single base substitution A G missense_variant Y10C 29A>G PBCA-DE 8 59343083 59343083 single base substitution A G missense_variant Y65C 194A>G PRAD-CA 8 59334597 59334597 single base substitution A G intron_variant PRAD-CA 8 59348387 59348387 single base substitution C G downstream_gene_variant PRAD-CA 8 59348387 59348387 single base substitution C G intron_variant PRAD-CA 8 59364859 59364859 single base substitution G T downstream_gene_variant PRAD-CA 8 59366730 59366730 single base substitution A T downstream_gene_variant PRAD-UK 8 59338173 59338173 single base substitution G T intron_variant PRAD-UK 8 59364982 59364982 single base substitution C T downstream_gene_variant READ-US 8 59343121 59343121 single base substitution C T exon_variant READ-US 8 59343121 59343121 single base substitution C T intron_variant READ-US 8 59343121 59343121 single base substitution C T stop_gained R23* 67C>T READ-US 8 59343121 59343121 single base substitution C T stop_gained R78* 232C>T RECA-EU 8 59325492 59325492 single base substitution A G intron_variant RECA-EU 8 59325492 59325492 single base substitution A G upstream_gene_variant RECA-EU 8 59330514 59330514 single base substitution T A intron_variant RECA-EU 8 59336981 59336981 single base substitution T G intron_variant RECA-EU 8 59338987 59338987 single base substitution T G intron_variant RECA-EU 8 59349889 59349889 single base substitution T C downstream_gene_variant RECA-EU 8 59349889 59349889 single base substitution T C intron_variant RECA-EU 8 59350746 59350746 single base substitution C T downstream_gene_variant RECA-EU 8 59350746 59350746 single base substitution C T intron_variant RECA-EU 8 59365507 59365507 single base substitution T G downstream_gene_variant SKCA-BR 8 59318837 59318837 single base substitution C T upstream_gene_variant SKCA-BR 8 59319463 59319463 single base substitution G A upstream_gene_variant SKCA-BR 8 59321368 59321368 single base substitution G A upstream_gene_variant SKCA-BR 8 59322188 59322188 single base substitution T A upstream_gene_variant SKCA-BR 8 59325319 59325319 single base substitution C T intron_variant SKCA-BR 8 59325319 59325319 single base substitution C T upstream_gene_variant SKCA-BR 8 59325726 59325726 single base substitution T C intron_variant SKCA-BR 8 59325726 59325726 single base substitution T C upstream_gene_variant SKCA-BR 8 59328805 59328805 single base substitution C T intron_variant SKCA-BR 8 59328805 59328805 single base substitution C T upstream_gene_variant SKCA-BR 8 59330709 59330709 single base substitution A G intron_variant SKCA-BR 8 59332217 59332217 single base substitution A C intron_variant SKCA-BR 8 59335146 59335146 single base substitution C T intron_variant SKCA-BR 8 59335638 59335638 insertion of <=200bp - AATC intron_variant SKCA-BR 8 59336506 59336506 single base substitution G A intron_variant SKCA-BR 8 59337488 59337504 deletion of <=200bp CTCTCTGTTGATGTCAG - intron_variant SKCA-BR 8 59342349 59342349 single base substitution C T intron_variant SKCA-BR 8 59342599 59342600 deletion of <=200bp GA - intron_variant SKCA-BR 8 59344524 59344524 single base substitution C T intron_variant SKCA-BR 8 59344903 59344903 single base substitution C T intron_variant SKCA-BR 8 59344934 59344934 insertion of <=200bp - CTT intron_variant SKCA-BR 8 59346928 59346928 single base substitution A T intron_variant SKCA-BR 8 59349606 59349606 single base substitution G A downstream_gene_variant SKCA-BR 8 59349606 59349606 single base substitution G A intron_variant SKCA-BR 8 59352338 59352338 single base substitution C T downstream_gene_variant SKCA-BR 8 59352338 59352338 single base substitution C T intron_variant SKCA-BR 8 59353910 59353910 insertion of <=200bp - ATATATATATATATATATGTATGTG intron_variant SKCA-BR 8 59355359 59355359 single base substitution G C intron_variant SKCA-BR 8 59364214 59364214 single base substitution C T downstream_gene_variant SKCA-BR 8 59364239 59364239 single base substitution A T downstream_gene_variant SKCA-BR 8 59368587 59368587 single base substitution G A downstream_gene_variant SKCM-US 8 59329508 59329508 single base substitution C T exon_variant SKCM-US 8 59329508 59329508 single base substitution C T stop_gained Q62* 184C>T SKCM-US 8 59329508 59329508 single base substitution C T stop_gained Q7* 19C>T SKCM-US 8 59345768 59345768 single base substitution C T exon_variant SKCM-US 8 59345768 59345768 single base substitution C T missense_variant S130F 389C>T SKCM-US 8 59345768 59345768 single base substitution C T missense_variant S75F 224C>T SKCM-US 8 59352256 59352256 single base substitution C T 3_prime_UTR_variant SKCM-US 8 59352256 59352256 single base substitution C T downstream_gene_variant SKCM-US 8 59352256 59352256 single base substitution C T missense_variant H200Y 598C>T STAD-US 8 59359985 59359985 single base substitution C G 3_prime_UTR_variant STAD-US 8 59359985 59359985 single base substitution C G downstream_gene_variant STAD-US 8 59359985 59359985 single base substitution C G missense_variant P291A 871C>G THCA-US 8 59352245 59352245 single base substitution A G 3_prime_UTR_variant THCA-US 8 59352245 59352245 single base substitution A G downstream_gene_variant THCA-US 8 59352245 59352245 single base substitution A G missense_variant D196G 587A>G UCEC-US 8 59343131 59343131 single base substitution C T exon_variant UCEC-US 8 59343131 59343131 single base substitution C T intron_variant UCEC-US 8 59343131 59343131 single base substitution C T missense_variant T26I 77C>T UCEC-US 8 59343131 59343131 single base substitution C T missense_variant T81I 242C>T UCEC-US 8 59343194 59343194 single base substitution A G exon_variant UCEC-US 8 59343194 59343194 single base substitution A G intron_variant UCEC-US 8 59343194 59343194 single base substitution A G missense_variant E102G 305A>G UCEC-US 8 59343194 59343194 single base substitution A G missense_variant E47G 140A>G UCEC-US 8 59345764 59345764 single base substitution C T exon_variant UCEC-US 8 59345764 59345764 single base substitution C T missense_variant R129W 385C>T UCEC-US 8 59345764 59345764 single base substitution C T missense_variant R74W 220C>T UCEC-US 8 59347023 59347023 single base substitution G T 3_prime_UTR_variant UCEC-US 8 59347023 59347023 single base substitution G T exon_variant UCEC-US 8 59347023 59347023 single base substitution G T stop_gained E110* 328G>T UCEC-US 8 59347023 59347023 single base substitution G T stop_gained E165* 493G>T UCEC-US 8 59352199 59352199 single base substitution C T 3_prime_UTR_variant UCEC-US 8 59352199 59352199 single base substitution C T downstream_gene_variant UCEC-US 8 59352199 59352199 single base substitution C T missense_variant P181S 541C>T UCEC-US 8 59352299 59352299 single base substitution C T 3_prime_UTR_variant UCEC-US 8 59352299 59352299 single base substitution C T downstream_gene_variant UCEC-US 8 59352299 59352299 single base substitution C T missense_variant A214V 641C>T UCEC-US 8 59358525 59358525 single base substitution T G 3_prime_UTR_variant UCEC-US 8 59358525 59358525 single base substitution T G missense_variant L244R 731T>G UCEC-US 8 59359975 59359975 single base substitution A G 3_prime_UTR_variant UCEC-US 8 59359975 59359975 single base substitution A G downstream_gene_variant UCEC-US 8 59359975 59359975 single base substitution A G synonymous_variant V287V 861A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-1481 COSM1269673 c.404G>T p.G135V Substitution - Missense 8:58433224-58433224 + Gp2D COSM2719697 c.621A>G p.K207K Substitution - coding silent 8:58439720-58439720 + TCGA-HU-A4GD-01 COSM3900799 c.871C>G p.P291A Substitution - Missense 8:58447426-58447426 + WA12 COSM242161 c.188G>A p.R63Q Substitution - Missense 8:58416953-58416953 + TCGA-AP-A056-01 COSM1100710 c.731T>G p.L244R Substitution - Missense 8:58445966-58445966 + CCC64T COSM3663813 c.859G>T p.V287L Substitution - Missense 8:58447414-58447414 + PD24325a COSM5781278 c.853T>A p.F285I Substitution - Missense 8:58447408-58447408 + HCC115 COSM1624097 c.150A>G p.K50K Substitution - coding silent 8:58416915-58416915 + TCGA-AP-A0LE-01 COSM1100704 c.242C>T p.T81I Substitution - Missense 8:58430572-58430572 + HN_62421 COSM127008 c.197C>G p.S66* Substitution - Nonsense 8:58430527-58430527 + CSCC-5-T COSM4544293 c.353G>A p.G118E Substitution - Missense 8:58433173-58433173 + T96 COSM4738985 c.391G>A p.E131K Substitution - Missense 8:58433211-58433211 + T578 COSM3432480 c.232C>T p.R78* Substitution - Nonsense 8:58430562-58430562 + TCGA-EE-A29L-06 COSM3650014 c.598C>T p.H200Y Substitution - Missense 8:58439697-58439697 + ESO-512 COSM1269674 c.189G>A p.R63R Substitution - coding silent 8:58430519-58430519 + TCGA-EL-A3D0-01 COSM3374960 c.587A>G p.D196G Substitution - Missense 8:58439686-58439686 + TCGA-24-1562-01 COSM76937 c.595G>A p.D199N Substitution - Missense 8:58439694-58439694 + TCGA-AG-A002-01 COSM264532 c.776T>A p.I259N Substitution - Missense 8:58446011-58446011 + BD199T COSM3663813 c.859G>T p.V287L Substitution - Missense 8:58447414-58447414 + TCGA-CJ-4641-01 COSM1137886 c.914C>T p.P305L Substitution - Missense 8:58447469-58447469 + TCGA-AP-A059-01 COSM1100706 c.385C>T p.R129W Substitution - Missense 8:58433205-58433205 + TCGA-D8-A4Z1-01 COSM5835565 c.61delC p.P21fs*19 Deletion - Frameshift 8:58411446-58411446 + AOCS-079-1-1 COSM4151533 c.19C>T p.P7S Substitution - Missense 8:58411404-58411404 + CHEWS025 COSM4588158 c.198A>G p.S66S Substitution - coding silent 8:58430528-58430528 + Pat_02_B COSM5874844 c.412C>A p.Q138K Substitution - Missense 8:58433232-58433232 + TCGA-AX-A05Z-01 COSM1100708 c.541C>T p.P181S Substitution - Missense 8:58439640-58439640 + S02342 COSM5693082 c.680C>T p.P227L Substitution - Missense 8:58445915-58445915 + ICGC_MB68 COSM3765409 c.194A>G p.Y65C Substitution - Missense 8:58430524-58430524 + BCB325T COSM4949734 c.391G>T p.E131* Substitution - Nonsense 8:58433211-58433211 + TCGA-FW-A3R5-06 COSM3925436 c.389C>T p.S130F Substitution - Missense 8:58433209-58433209 + TCGA-D8-A27F-01 COSM1489353 c.626G>C p.R209T Substitution - Missense 8:58439725-58439725 + M018 COSM1739423 c.550C>A p.L184I Substitution - Missense 8:58439649-58439649 + TCGA-AM-5820-01 COSM3763363 c.114A>G p.E38E Substitution - coding silent 8:58416879-58416879 + AOCS-094-1-1 COSM4151534 c.520T>A p.S174T Substitution - Missense 8:58434491-58434491 + TCGA-AO-A128-01 COSM3834862 c.321A>G p.S107S Substitution - coding silent 8:58430651-58430651 + TCGA-EA-A3QE-01 COSM4843536 c.356G>A p.G119E Substitution - Missense 8:58433176-58433176 + EOPC-010_tumor COSM3716668 c.859G>A p.V287I Substitution - Missense 8:58447414-58447414 + 783_T COSM3951741 c.650G>A p.G217E Substitution - Missense 8:58439749-58439749 + TCGA-41-2575-01 COSM3413078 c.421G>T p.D141Y Substitution - Missense 8:58433241-58433241 + LUAD-RT-S01777 COSM382548 c.366G>A p.L122L Substitution - coding silent 8:58433186-58433186 + TCGA-09-2050-01 COSM73190 c.754G>A p.D252N Substitution - Missense 8:58445989-58445989 + AOCS-094-6-X COSM4151534 c.520T>A p.S174T Substitution - Missense 8:58434491-58434491 + TCGA-AC-A23H-01 COSM73190 c.754G>A p.D252N Substitution - Missense 8:58445989-58445989 + T75 COSM1177701 c.961A>G p.I321V Substitution - Missense 8:58447516-58447516 + TCGA-DA-A1HY-06 COSM3650013 c.184C>T p.Q62* Substitution - Nonsense 8:58416949-58416949 + HCC115T COSM1624097 c.150A>G p.K50K Substitution - coding silent 8:58416915-58416915 + TCGA-D1-A16X-01 COSM1100705 c.305A>G p.E102G Substitution - Missense 8:58430635-58430635 + COLO201 COSM2719692 c.269A>G p.K90R Substitution - Missense 8:58430599-58430599 + SNUH_G45_S1 COSM3982556 c.144A>G p.R48R Substitution - coding silent 8:58416909-58416909 + TCGA-DK-A3IU-01 COSM3779292 c.359A>T p.Y120F Substitution - Missense 8:58433179-58433179 + sysucc-1512T COSM3763363 c.114A>G p.E38E Substitution - coding silent 8:58416879-58416879 + LUAD-NYU259 COSM372027 c.834G>T p.R278S Substitution - Missense 8:58447389-58447389 + COLO205 COSM2719692 c.269A>G p.K90R Substitution - Missense 8:58430599-58430599 + CCC64 COSM3663813 c.859G>T p.V287L Substitution - Missense 8:58447414-58447414 + LUAD-F00121 COSM365897 c.385C>G p.R129G Substitution - Missense 8:58433205-58433205 + TCGA-BS-A0TC-01 COSM1100707 c.493G>T p.E165* Substitution - Nonsense 8:58434464-58434464 + pfg108T COSM4756159 c.697C>T p.P233S Substitution - Missense 8:58445932-58445932 + ccRCC-90 COSM1665840 c.299_302delTGAA p.N101fs*54 Deletion - Frameshift 8:58430629-58430632 + DN111AA COSM5794311 c.493G>A p.E165K Substitution - Missense 8:58434464-58434464 + T2269 COSM3432480 c.232C>T p.R78* Substitution - Nonsense 8:58430562-58430562 + 61 COSM5738343 c.881C>T p.A294V Substitution - Missense 8:58447436-58447436 + LUAD-CHTN-MAD06-00668 COSM360442 c.173G>C p.R58P Substitution - Missense 8:58416938-58416938 + PD13165a COSM5794311 c.493G>A p.E165K Substitution - Missense 8:58434464-58434464 + PT35 COSM5912882 c.952G>A p.E318K Substitution - Missense 8:58447507-58447507 + LUAD-S01306 COSM343778 c.328G>T p.D110Y Substitution - Missense 8:58430658-58430658 + Gp5D COSM2719697 c.621A>G p.K207K Substitution - coding silent 8:58439720-58439720 + 113368 COSM326809 c.919A>G p.K307E Substitution - Missense 8:58447474-58447474 + TCGA-A5-A0R8-01 COSM1100711 c.861A>G p.V287V Substitution - coding silent 8:58447416-58447416 + TCGA-EI-6917-01 COSM3432480 c.232C>T p.R78* Substitution - Nonsense 8:58430562-58430562 + BCB325T COSM4949734 c.391G>T p.E131* Substitution - Nonsense 8:58433211-58433211 + TCGA-B5-A0JY-01 COSM1100709 c.641C>T p.A214V Substitution - Missense 8:58439740-58439740 + TCGA-AC-A23H-01 COSM3834861 c.255G>A p.V85V Substitution - coding silent 8:58430585-58430585 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.155572 8q12.1 610686

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.N245H c.733A>C 8 59358527 HNSC A G Missense p.D196G c.587A>G 8 59352245 THCA A G Missense p.K307E c.919A>G 8 59360033 SCLC A G Synonymous p.V287V c.861A>G 8 59359975 UCEC A T 3-UTRSNV . c.993+2659A>T 8 59362766 HC A T Missense p.I270L c.808A>T 8 59358602 LUAD A T Missense p.Y120F c.359A>T 8 59345738 BLCA C G Nonsense p.S66* c.197C>G 8 59343086 HNSC C T IntronicSNV . c.189-5031C>T 8 59338047 CM C T IntronicSNV . c.189-5119C>T 8 59337959 CM C T IntronicSNV . c.189-5218C>T 8 59337860 CM C T IntronicSNV . c.189-5380C>T 8 59337698 CM C T IntronicSNV . c.189-5455C>T 8 59337623 CM C T Missense p.H200Y c.598C>T 8 59352256 CM C T Missense p.T81I c.242C>T 8 59343131 UCEC C T Nonsense p.Q62* c.184C>T 8 59329508 CM G A IntronicSNV . c.189-4367G>A 8 59338711 CM G A Missense p.D199N c.595G>A 8 59352253 OV G A Missense p.D252N c.754G>A 8 59358548 OV G A Missense p.G123S c.367G>A 8 59345746 CM G A Synonymous p.L210L c.630G>A 8 59352288 HNSC G A Synonymous p.R63R c.189G>A 8 59343078 ESCA G C Missense p.R209T c.626G>C 8 59352284 BRCA G T Missense p.D141Y c.421G>T 8 59345800 GBM G T Missense p.G135V c.404G>T 8 59345783 ESCA G T Nonsense p.E165* c.493G>T 8 59347023 UCEC T A Missense p.D157E c.471T>A 8 59347001 LUAD T C IntronicSNV . c.189-3997T>C 8 59339081 CM T G IntronicSNV . c.189-26T>G 8 59343052 STAD T - IntronicDeletion . c.534-17delT 8 59352170 STAD