Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BRCA 1 9416157 9416157 + Missense_Mutation SNP G G T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:9416157G>T c.207G>T c.(205-207)gaG>gaT p.E69D CESC 1 9416573 9416573 + Missense_Mutation SNP A A G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr1:9416573A>G c.623A>G c.(622-624)aAa>aGa p.K208R COAD 1 9416315 9416315 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:9416315delC c.365delC c.(364-366)gccfs p.A122fs COAD 1 9416535 9416535 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:9416535G>T c.585G>T c.(583-585)caG>caT p.Q195H COAD 1 9427574 9427574 + Frame_Shift_Del DEL G G - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:9427574delG c.762delG c.(760-762)ctgfs p.L254fs COADREAD 1 9416315 9416315 + Frame_Shift_Del DEL C C - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:9416315delC c.365delC c.(364-366)gccfs p.A122fs COADREAD 1 9416535 9416535 + Missense_Mutation SNP G G T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:9416535G>T c.585G>T c.(583-585)caG>caT p.Q195H COADREAD 1 9427574 9427574 + Frame_Shift_Del DEL G G - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:9427574delG c.762delG c.(760-762)ctgfs p.L254fs ESCA 1 9427595 9427595 + Silent SNP G G A TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 g.chr1:9427595G>A c.783G>A c.(781-783)ccG>ccA p.P261P GBM 1 9416221 9416221 + Missense_Mutation SNP G G A TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr1:9416221G>A c.271G>A c.(271-273)Gtc>Atc p.V91I GBMLGG 1 9416221 9416221 + Missense_Mutation SNP G G A TCGA-06-0184-01A-01D-1491-08 TCGA-06-0184-10B-01D-1491-08 g.chr1:9416221G>A c.271G>A c.(271-273)Gtc>Atc p.V91I HNSC 1 9416329 9416329 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr1:9416329G>A c.379G>A c.(379-381)Gtc>Atc p.V127I HNSC 1 9416393 9416393 + Missense_Mutation SNP G G T TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr1:9416393G>T c.443G>T c.(442-444)cGg>cTg p.R148L HNSC 1 9427562 9427562 + Silent SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr1:9427562G>C c.750G>C c.(748-750)ggG>ggC p.G250G HNSC 1 9427566 9427566 + Missense_Mutation SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr1:9427566G>A c.754G>A c.(754-756)Gag>Aag p.E252K KIPAN 1 9415972 9415972 + Missense_Mutation SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr1:9415972G>A c.22G>A c.(22-24)Ggg>Agg p.G8R KIPAN 1 9416147 9416147 + Missense_Mutation SNP T T C TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:9416147T>C c.197T>C c.(196-198)tTt>tCt p.F66S KIPAN 1 9416577 9416577 + Silent SNP G G A TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr1:9416577G>A c.627G>A c.(625-627)ctG>ctA p.L209L KIRC 1 9415972 9415972 + Missense_Mutation SNP G G A TCGA-B0-5097-01A-01D-1421-08 TCGA-B0-5097-11A-01D-1421-08 g.chr1:9415972G>A c.22G>A c.(22-24)Ggg>Agg p.G8R KIRC 1 9416147 9416147 + Missense_Mutation SNP T T C TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:9416147T>C c.197T>C c.(196-198)tTt>tCt p.F66S KIRC 1 9416577 9416577 + Silent SNP G G A TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr1:9416577G>A c.627G>A c.(625-627)ctG>ctA p.L209L LIHC 1 9416188 9416188 + Missense_Mutation SNP G G A TCGA-DD-AACI-01A-11D-A40R-10 TCGA-DD-AACI-10A-01D-A40U-10 g.chr1:9416188G>A c.238G>A c.(238-240)Gtg>Atg p.V80M LIHC 1 9416228 9416228 + Missense_Mutation SNP A A G TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr1:9416228A>G c.278A>G c.(277-279)tAt>tGt p.Y93C LUAD 1 9415995 9415995 + Missense_Mutation SNP G G T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:9415995G>T c.45G>T c.(43-45)agG>agT p.R15S LUAD 1 9416181 9416181 + Silent SNP G G A TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr1:9416181G>A c.231G>A c.(229-231)cgG>cgA p.R77R LUAD 1 9416188 9416188 + Missense_Mutation SNP G G T TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chr1:9416188G>T c.238G>T c.(238-240)Gtg>Ttg p.V80L LUAD 1 9416202 9416202 + Silent SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr1:9416202G>T c.252G>T c.(250-252)acG>acT p.T84T LUAD 1 9416268 9416268 + Missense_Mutation SNP G G A TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr1:9416268G>A c.318G>A c.(316-318)atG>atA p.M106I LUAD 1 9416296 9416296 + Missense_Mutation SNP G G T TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr1:9416296G>T c.346G>T c.(346-348)Ggg>Tgg p.G116W LUAD 1 9416304 9416304 + Silent SNP G G C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:9416304G>C c.354G>C c.(352-354)gcG>gcC p.A118A LUAD 1 9416498 9416499 + Frame_Shift_Ins INS - - G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr1:9416498_9416499insG c.548_549insG c.(547-552)atggacfs p.D184fs LUSC 1 9416114 9416114 + Missense_Mutation SNP C C T TCGA-34-5928-01A-11D-1817-08 TCGA-34-5928-10A-01D-1817-08 g.chr1:9416114C>T c.164C>T c.(163-165)tCa>tTa p.S55L PAAD 1 9416403 9416403 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:9416403C>T c.453C>T c.(451-453)caC>caT p.H151H PAAD 1 9416645 9416645 + Splice_Site SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:9416645G>A c.e2+1 SKCM 1 9416002 9416002 + Missense_Mutation SNP A A T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:9416002A>T c.52A>T c.(52-54)Acg>Tcg p.T18S SKCM 1 9416028 9416028 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:9416028C>T c.78C>T c.(76-78)ctC>ctT p.L26L SKCM 1 9416153 9416153 + Missense_Mutation SNP A A G TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:9416153A>G c.203A>G c.(202-204)aAg>aGg p.K68R SKCM 1 9416313 9416313 + Missense_Mutation SNP C C A TCGA-RP-A693-06A-13D-A30X-08 TCGA-RP-A693-10A-01D-A30X-08 g.chr1:9416313C>A c.363C>A c.(361-363)gaC>gaA p.D121E SKCM 1 9416449 9416449 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:9416449C>T c.499C>T c.(499-501)Cca>Tca p.P167S SKCM 1 9416450 9416450 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr1:9416450C>T c.500C>T c.(499-501)cCa>cTa p.P167L SKCM 1 9416477 9416477 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:9416477C>T c.527C>T c.(526-528)tCc>tTc p.S176F SKCM 1 9416478 9416478 + Silent SNP C C T TCGA-FW-A5DY-06A-11D-A30X-08 TCGA-FW-A5DY-11A-12D-A30X-08 g.chr1:9416478C>T c.528C>T c.(526-528)tcC>tcT p.S176S SKCM 1 9416581 9416581 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:9416581C>T c.631C>T c.(631-633)Cct>Tct p.P211S SKCM 1 9416644 9416644 + Splice_Site SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr1:9416644C>T c.694C>T c.(694-696)Ccc>Tcc p.P232S SKCM 1 9427561 9427561 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:9427561G>A c.749G>A c.(748-750)gGg>gAg p.G250E

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 1 9370254 9370254 single base substitution C T intron_variant BRCA-EU 1 9350417 9350417 single base substitution G T upstream_gene_variant BRCA-EU 1 9350835 9350835 single base substitution T G upstream_gene_variant BRCA-EU 1 9350955 9350955 single base substitution C T upstream_gene_variant BRCA-EU 1 9351318 9351318 single base substitution C T upstream_gene_variant BRCA-EU 1 9355526 9355526 single base substitution G A intron_variant BRCA-EU 1 9355567 9355567 single base substitution G C intron_variant BRCA-EU 1 9360118 9360118 single base substitution A G intron_variant BRCA-EU 1 9362293 9362293 single base substitution A T intron_variant BRCA-EU 1 9362422 9362422 single base substitution G C intron_variant BRCA-EU 1 9362540 9362540 single base substitution C G intron_variant BRCA-EU 1 9362712 9362712 single base substitution C T intron_variant BRCA-EU 1 9364279 9364279 single base substitution G A intron_variant BRCA-EU 1 9365347 9365347 single base substitution C G intron_variant BRCA-EU 1 9366511 9366511 single base substitution G T intron_variant BRCA-EU 1 9367621 9367621 single base substitution G A intron_variant BRCA-EU 1 9369085 9369085 single base substitution G T intron_variant BRCA-EU 1 9369279 9369279 single base substitution G C intron_variant BRCA-EU 1 9369820 9369820 single base substitution G C intron_variant BRCA-EU 1 9372933 9372933 single base substitution G A intron_variant BRCA-EU 1 9375526 9375526 single base substitution C G intron_variant BRCA-EU 1 9376064 9376064 single base substitution G C intron_variant BRCA-EU 1 9378105 9378105 single base substitution C G intron_variant BRCA-EU 1 9379223 9379223 single base substitution G C intron_variant BRCA-EU 1 9380562 9380562 single base substitution A G intron_variant BRCA-EU 1 9383270 9383270 single base substitution G A intron_variant BRCA-EU 1 9384689 9384689 single base substitution G A intron_variant BRCA-EU 1 9384885 9384885 single base substitution G C intron_variant BRCA-EU 1 9384991 9384991 single base substitution G A intron_variant BRCA-EU 1 9385102 9385102 single base substitution G A intron_variant BRCA-EU 1 9385490 9385490 single base substitution T C intron_variant BRCA-EU 1 9386783 9386783 single base substitution C G intron_variant BRCA-EU 1 9386821 9386821 single base substitution C G intron_variant BRCA-EU 1 9387514 9387514 single base substitution G C intron_variant BRCA-EU 1 9387735 9387735 single base substitution T G intron_variant BRCA-EU 1 9387985 9387985 single base substitution G C intron_variant BRCA-EU 1 9388537 9388537 single base substitution G C intron_variant BRCA-EU 1 9388549 9388549 single base substitution C T intron_variant BRCA-EU 1 9389780 9389780 single base substitution A G intron_variant BRCA-EU 1 9390197 9390197 single base substitution C T intron_variant BRCA-EU 1 9390711 9390711 single base substitution C T intron_variant BRCA-EU 1 9390782 9390782 single base substitution G A intron_variant BRCA-EU 1 9390849 9390849 single base substitution A T intron_variant BRCA-EU 1 9392036 9392036 single base substitution T C intron_variant BRCA-EU 1 9392079 9392079 single base substitution C T intron_variant BRCA-EU 1 9392454 9392454 single base substitution G A intron_variant BRCA-EU 1 9393092 9393092 single base substitution C T intron_variant BRCA-EU 1 9393717 9393717 single base substitution G A intron_variant BRCA-EU 1 9393868 9393868 single base substitution C G intron_variant BRCA-EU 1 9394130 9394130 single base substitution C T intron_variant BRCA-EU 1 9394478 9394478 single base substitution C T intron_variant BRCA-EU 1 9395800 9395800 single base substitution G C intron_variant BRCA-EU 1 9397119 9397119 single base substitution G T intron_variant BRCA-EU 1 9399916 9399916 single base substitution G A intron_variant BRCA-EU 1 9400132 9400132 single base substitution C G intron_variant BRCA-EU 1 9401644 9401644 single base substitution C A intron_variant BRCA-EU 1 9403203 9403203 single base substitution T G intron_variant BRCA-EU 1 9406389 9406389 single base substitution C G intron_variant BRCA-EU 1 9406405 9406405 single base substitution G A intron_variant BRCA-EU 1 9406486 9406486 single base substitution C G intron_variant BRCA-EU 1 9406643 9406643 single base substitution G A intron_variant BRCA-EU 1 9406643 9406643 single base substitution G A upstream_gene_variant BRCA-EU 1 9407269 9407269 single base substitution G A intron_variant BRCA-EU 1 9407269 9407269 single base substitution G A upstream_gene_variant BRCA-EU 1 9408611 9408611 single base substitution G C intron_variant BRCA-EU 1 9408611 9408611 single base substitution G C upstream_gene_variant BRCA-EU 1 9408643 9408643 single base substitution C A intron_variant BRCA-EU 1 9408643 9408643 single base substitution C A upstream_gene_variant BRCA-EU 1 9412847 9412847 single base substitution T G intron_variant BRCA-EU 1 9412847 9412847 single base substitution T G upstream_gene_variant BRCA-EU 1 9414642 9414642 single base substitution C T intron_variant BRCA-EU 1 9414642 9414642 single base substitution C T upstream_gene_variant BRCA-EU 1 9415053 9415053 single base substitution A T intron_variant BRCA-EU 1 9415053 9415053 single base substitution A T upstream_gene_variant BRCA-EU 1 9415167 9415167 single base substitution G A intron_variant BRCA-EU 1 9415167 9415167 single base substitution G A upstream_gene_variant BRCA-EU 1 9415224 9415224 single base substitution G A intron_variant BRCA-EU 1 9415224 9415224 single base substitution G A upstream_gene_variant BRCA-EU 1 9415388 9415388 single base substitution G A intron_variant BRCA-EU 1 9415388 9415388 single base substitution G A upstream_gene_variant BRCA-EU 1 9420524 9420524 single base substitution A G downstream_gene_variant BRCA-EU 1 9420524 9420524 single base substitution A G intron_variant BRCA-EU 1 9420640 9420640 single base substitution G A downstream_gene_variant BRCA-EU 1 9420640 9420640 single base substitution G A intron_variant BRCA-EU 1 9420658 9420658 single base substitution G A downstream_gene_variant BRCA-EU 1 9420658 9420658 single base substitution G A intron_variant BRCA-EU 1 9420695 9420695 single base substitution G A downstream_gene_variant BRCA-EU 1 9420695 9420695 single base substitution G A intron_variant BRCA-EU 1 9423926 9423926 single base substitution A C intron_variant BRCA-EU 1 9424374 9424374 single base substitution C G intron_variant BRCA-EU 1 9426035 9426035 single base substitution G A intron_variant BRCA-EU 1 9427265 9427265 single base substitution G C intron_variant BRCA-EU 1 9427893 9427893 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 9427893 9427893 single base substitution G C downstream_gene_variant BRCA-EU 1 9430222 9430222 single base substitution G C downstream_gene_variant BRCA-EU 1 9430308 9430308 single base substitution C T downstream_gene_variant BRCA-EU 1 9431550 9431550 single base substitution G A downstream_gene_variant BRCA-EU 1 9431562 9431562 single base substitution C T downstream_gene_variant BRCA-EU 1 9431601 9431601 single base substitution A T downstream_gene_variant BRCA-EU 1 9433073 9433073 single base substitution C G downstream_gene_variant BRCA-EU 1 9433605 9433605 single base substitution A G downstream_gene_variant BRCA-EU 1 9433762 9433762 single base substitution C G downstream_gene_variant BRCA-FR 1 9351986 9351986 single base substitution G T upstream_gene_variant BRCA-FR 1 9355526 9355526 single base substitution G A intron_variant BRCA-FR 1 9367378 9367378 single base substitution G A intron_variant BRCA-FR 1 9369820 9369820 single base substitution G C intron_variant BRCA-FR 1 9378105 9378105 single base substitution C G intron_variant BRCA-FR 1 9385490 9385490 single base substitution T C intron_variant BRCA-FR 1 9393119 9393119 single base substitution C T intron_variant BRCA-FR 1 9399916 9399916 single base substitution G A intron_variant BRCA-FR 1 9404098 9404098 single base substitution C T intron_variant BRCA-FR 1 9420640 9420640 single base substitution G A downstream_gene_variant BRCA-FR 1 9420640 9420640 single base substitution G A intron_variant BRCA-UK 1 9354073 9354073 single base substitution G C intron_variant BRCA-UK 1 9354073 9354073 single base substitution G C upstream_gene_variant BRCA-UK 1 9387735 9387735 single base substitution T G intron_variant BRCA-UK 1 9416452 9416452 single base substitution G C missense_variant D168H 502G>C BRCA-UK 1 9433013 9433013 single base substitution G C downstream_gene_variant BRCA-US 1 9416157 9416157 single base substitution G T missense_variant E69D 207G>T BTCA-JP 1 9415888 9415888 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CESC-US 1 9416573 9416573 single base substitution A G downstream_gene_variant CESC-US 1 9416573 9416573 single base substitution A G missense_variant K208R 623A>G CLLE-ES 1 9374881 9374881 single base substitution C T intron_variant CLLE-ES 1 9378842 9378842 single base substitution C G intron_variant CLLE-ES 1 9390293 9390293 single base substitution G A intron_variant CLLE-ES 1 9398011 9398011 single base substitution G A intron_variant CLLE-ES 1 9403190 9403190 single base substitution G T intron_variant CLLE-ES 1 9414078 9414078 single base substitution G A intron_variant CLLE-ES 1 9414078 9414078 single base substitution G A upstream_gene_variant CLLE-ES 1 9424966 9424966 single base substitution G A intron_variant CLLE-ES 1 9434312 9434312 single base substitution C T downstream_gene_variant COAD-US 1 9416315 9416315 deletion of <=200bp C - frameshift_variant A122 COAD-US 1 9416346 9416346 single base substitution C T synonymous_variant L132L 396C>T COAD-US 1 9416535 9416535 single base substitution G T missense_variant Q195H 585G>T COAD-US 1 9427574 9427574 deletion of <=200bp G - frameshift_variant L254 EOPC-DE 1 9358244 9358244 single base substitution G A intron_variant EOPC-DE 1 9385292 9385292 single base substitution C T intron_variant EOPC-DE 1 9404002 9404002 single base substitution G A intron_variant EOPC-DE 1 9422438 9422438 single base substitution C T intron_variant ESAD-UK 1 9348116 9348116 single base substitution G T upstream_gene_variant ESAD-UK 1 9348946 9348946 single base substitution C A upstream_gene_variant ESAD-UK 1 9349262 9349262 single base substitution A C upstream_gene_variant ESAD-UK 1 9350643 9350643 single base substitution C T upstream_gene_variant ESAD-UK 1 9351069 9351069 single base substitution T G upstream_gene_variant ESAD-UK 1 9352316 9352316 single base substitution G C upstream_gene_variant ESAD-UK 1 9355251 9355251 insertion of <=200bp - GT intron_variant ESAD-UK 1 9358723 9358723 deletion of <=200bp A - intron_variant ESAD-UK 1 9362072 9362072 single base substitution G A intron_variant ESAD-UK 1 9363252 9363252 single base substitution G A intron_variant ESAD-UK 1 9363376 9363376 single base substitution A G intron_variant ESAD-UK 1 9364201 9364201 single base substitution C T intron_variant ESAD-UK 1 9364682 9364682 single base substitution G T intron_variant ESAD-UK 1 9370254 9370254 single base substitution C T intron_variant ESAD-UK 1 9371824 9371824 single base substitution G A intron_variant ESAD-UK 1 9374240 9374240 single base substitution A C intron_variant ESAD-UK 1 9374255 9374255 insertion of <=200bp - A intron_variant ESAD-UK 1 9375506 9375506 single base substitution C T intron_variant ESAD-UK 1 9376031 9376031 single base substitution G A intron_variant ESAD-UK 1 9376374 9376379 deletion of <=200bp TTGGCA - intron_variant ESAD-UK 1 9378076 9378076 single base substitution G A intron_variant ESAD-UK 1 9379677 9379677 single base substitution G A intron_variant ESAD-UK 1 9381519 9381519 single base substitution C T intron_variant ESAD-UK 1 9383232 9383232 single base substitution G A intron_variant ESAD-UK 1 9383545 9383545 single base substitution G A intron_variant ESAD-UK 1 9385018 9385018 single base substitution C T intron_variant ESAD-UK 1 9385889 9385889 single base substitution G A intron_variant ESAD-UK 1 9386244 9386244 single base substitution T G intron_variant ESAD-UK 1 9386457 9386457 single base substitution C T intron_variant ESAD-UK 1 9387237 9387237 single base substitution C G intron_variant ESAD-UK 1 9387267 9387267 single base substitution C T intron_variant ESAD-UK 1 9391158 9391158 single base substitution C G intron_variant ESAD-UK 1 9391871 9391871 single base substitution G A intron_variant ESAD-UK 1 9392416 9392416 single base substitution G A intron_variant ESAD-UK 1 9394364 9394364 single base substitution C T intron_variant ESAD-UK 1 9400656 9400656 single base substitution G A intron_variant ESAD-UK 1 9400778 9400778 single base substitution C T intron_variant ESAD-UK 1 9401054 9401054 single base substitution C A intron_variant ESAD-UK 1 9401578 9401578 single base substitution G A intron_variant ESAD-UK 1 9402394 9402394 single base substitution T A intron_variant ESAD-UK 1 9403538 9403538 single base substitution T C intron_variant ESAD-UK 1 9407388 9407388 single base substitution C G intron_variant ESAD-UK 1 9407388 9407388 single base substitution C G upstream_gene_variant ESAD-UK 1 9407775 9407775 single base substitution G A intron_variant ESAD-UK 1 9407775 9407775 single base substitution G A upstream_gene_variant ESAD-UK 1 9410797 9410797 single base substitution G A intron_variant ESAD-UK 1 9410797 9410797 single base substitution G A upstream_gene_variant ESAD-UK 1 9412539 9412539 single base substitution T C intron_variant ESAD-UK 1 9412539 9412539 single base substitution T C upstream_gene_variant ESAD-UK 1 9416347 9416347 single base substitution G A missense_variant V133M 397G>A ESAD-UK 1 9421535 9421535 single base substitution G A downstream_gene_variant ESAD-UK 1 9421535 9421535 single base substitution G A intron_variant ESAD-UK 1 9422355 9422355 insertion of <=200bp - G intron_variant ESAD-UK 1 9422916 9422916 single base substitution T C intron_variant ESAD-UK 1 9423136 9423136 single base substitution T G intron_variant ESAD-UK 1 9424235 9424235 single base substitution G A intron_variant ESAD-UK 1 9425916 9425916 single base substitution G A intron_variant ESAD-UK 1 9427727 9427727 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 9427727 9427727 single base substitution G A downstream_gene_variant ESAD-UK 1 9428912 9428912 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 9428912 9428912 single base substitution G A downstream_gene_variant ESAD-UK 1 9429488 9429488 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 9429488 9429488 single base substitution G A downstream_gene_variant ESAD-UK 1 9430108 9430108 single base substitution A G downstream_gene_variant ESAD-UK 1 9430168 9430168 single base substitution G T downstream_gene_variant ESAD-UK 1 9431265 9431265 single base substitution C G downstream_gene_variant ESCA-CN 1 9416234 9416234 single base substitution G A missense_variant R95H 284G>A ESCA-CN 1 9416314 9416314 single base substitution G A missense_variant A122T 364G>A GBM-US 1 9416221 9416221 single base substitution G A missense_variant V91I 271G>A KIRC-US 1 9415972 9415972 single base substitution G A missense_variant G8R 22G>A KIRC-US 1 9416147 9416147 single base substitution T C missense_variant F66S 197T>C KIRC-US 1 9416577 9416577 single base substitution G A downstream_gene_variant KIRC-US 1 9416577 9416577 single base substitution G A synonymous_variant L209L 627G>A LAML-KR 1 9416151 9416151 single base substitution G A synonymous_variant V67V 201G>A LAML-KR 1 9422255 9422255 single base substitution T C intron_variant LAML-KR 1 9425937 9425937 single base substitution G A intron_variant LICA-FR 1 9358319 9358319 single base substitution A G intron_variant LICA-FR 1 9380762 9380762 single base substitution T A intron_variant LICA-FR 1 9420446 9420446 single base substitution C A downstream_gene_variant LICA-FR 1 9420446 9420446 single base substitution C A intron_variant LICA-FR 1 9433752 9433752 single base substitution C T downstream_gene_variant LINC-JP 1 9364505 9364505 single base substitution G T intron_variant LINC-JP 1 9369715 9369715 single base substitution A C intron_variant LINC-JP 1 9390775 9390775 single base substitution T A intron_variant LINC-JP 1 9390777 9390777 single base substitution A T intron_variant LINC-JP 1 9405189 9405189 single base substitution C T intron_variant LINC-JP 1 9406748 9406748 single base substitution C T intron_variant LINC-JP 1 9406748 9406748 single base substitution C T upstream_gene_variant LINC-JP 1 9416113 9416113 single base substitution T G missense_variant S55A 163T>G LINC-JP 1 9416715 9416715 single base substitution A G downstream_gene_variant LINC-JP 1 9416715 9416715 single base substitution A G intron_variant LIRI-JP 1 9349504 9349504 single base substitution A G upstream_gene_variant LIRI-JP 1 9351732 9351732 single base substitution G A upstream_gene_variant LIRI-JP 1 9361075 9361075 single base substitution G T intron_variant LIRI-JP 1 9362109 9362109 single base substitution A C intron_variant LIRI-JP 1 9363286 9363286 single base substitution G C intron_variant LIRI-JP 1 9363532 9363532 single base substitution G A intron_variant LIRI-JP 1 9364366 9364366 single base substitution T A intron_variant LIRI-JP 1 9366808 9366808 single base substitution G T intron_variant LIRI-JP 1 9368782 9368782 single base substitution G A intron_variant LIRI-JP 1 9373861 9373861 single base substitution G A intron_variant LIRI-JP 1 9374117 9374117 single base substitution C G intron_variant LIRI-JP 1 9380948 9380948 deletion of <=200bp A - intron_variant LIRI-JP 1 9386471 9386471 single base substitution G A intron_variant LIRI-JP 1 9389544 9389544 single base substitution A G intron_variant LIRI-JP 1 9389845 9389845 single base substitution A G intron_variant LIRI-JP 1 9392320 9392320 single base substitution G A intron_variant LIRI-JP 1 9392452 9392452 single base substitution G T intron_variant LIRI-JP 1 9392598 9392598 single base substitution C T intron_variant LIRI-JP 1 9394847 9394847 single base substitution A T intron_variant LIRI-JP 1 9394892 9394892 single base substitution A G intron_variant LIRI-JP 1 9398313 9398313 single base substitution G A intron_variant LIRI-JP 1 9402707 9402707 single base substitution C T intron_variant LIRI-JP 1 9403866 9403866 single base substitution A G intron_variant LIRI-JP 1 9409545 9409545 single base substitution A G intron_variant LIRI-JP 1 9409545 9409545 single base substitution A G upstream_gene_variant LIRI-JP 1 9411908 9411908 single base substitution G T intron_variant LIRI-JP 1 9411908 9411908 single base substitution G T upstream_gene_variant LIRI-JP 1 9413432 9413432 single base substitution C T intron_variant LIRI-JP 1 9413432 9413432 single base substitution C T upstream_gene_variant LIRI-JP 1 9414128 9414128 single base substitution G A intron_variant LIRI-JP 1 9414128 9414128 single base substitution G A upstream_gene_variant LIRI-JP 1 9415185 9415185 single base substitution G A intron_variant LIRI-JP 1 9415185 9415185 single base substitution G A upstream_gene_variant LIRI-JP 1 9415306 9415306 single base substitution G C intron_variant LIRI-JP 1 9415306 9415306 single base substitution G C upstream_gene_variant LIRI-JP 1 9419869 9419869 single base substitution G A downstream_gene_variant LIRI-JP 1 9419869 9419869 single base substitution G A intron_variant LIRI-JP 1 9422186 9422186 single base substitution T C intron_variant LIRI-JP 1 9430064 9430064 single base substitution C T downstream_gene_variant LIRI-JP 1 9432879 9432879 single base substitution A G downstream_gene_variant LUSC-KR 1 9370253 9370253 single base substitution T C intron_variant LUSC-KR 1 9370499 9370499 single base substitution C G intron_variant LUSC-KR 1 9375980 9375980 single base substitution C A intron_variant LUSC-KR 1 9376026 9376026 single base substitution G A intron_variant LUSC-KR 1 9378483 9378483 single base substitution C G intron_variant LUSC-KR 1 9379353 9379353 single base substitution G T intron_variant LUSC-KR 1 9381519 9381519 single base substitution C G intron_variant LUSC-KR 1 9385287 9385287 single base substitution C A intron_variant LUSC-KR 1 9385332 9385332 single base substitution C T intron_variant LUSC-KR 1 9387033 9387033 single base substitution G C intron_variant LUSC-KR 1 9389661 9389661 single base substitution G T intron_variant LUSC-KR 1 9391828 9391828 single base substitution C T intron_variant LUSC-KR 1 9393845 9393845 single base substitution C T intron_variant LUSC-KR 1 9400352 9400352 single base substitution G A intron_variant LUSC-KR 1 9400988 9400988 single base substitution G C intron_variant LUSC-KR 1 9401242 9401242 single base substitution G T intron_variant LUSC-KR 1 9403863 9403863 single base substitution G C intron_variant LUSC-KR 1 9404098 9404098 single base substitution C T intron_variant LUSC-KR 1 9404430 9404430 single base substitution C T intron_variant LUSC-KR 1 9416346 9416346 single base substitution C T synonymous_variant L132L 396C>T LUSC-KR 1 9418852 9418852 single base substitution G T downstream_gene_variant LUSC-KR 1 9418852 9418852 single base substitution G T intron_variant LUSC-KR 1 9419914 9419914 single base substitution T G downstream_gene_variant LUSC-KR 1 9419914 9419914 single base substitution T G intron_variant LUSC-KR 1 9422664 9422664 single base substitution C T intron_variant LUSC-US 1 9416114 9416114 single base substitution C T missense_variant S55L 164C>T MALY-DE 1 9356654 9356654 insertion of <=200bp - CACACATACACAAACGTGTGCATG intron_variant MALY-DE 1 9359940 9359940 single base substitution T G intron_variant MALY-DE 1 9368293 9368293 deletion of <=200bp G - intron_variant MALY-DE 1 9368892 9368892 single base substitution G A intron_variant MALY-DE 1 9371980 9371980 single base substitution G T intron_variant MALY-DE 1 9380268 9380268 single base substitution A G intron_variant MALY-DE 1 9385841 9385841 single base substitution G A intron_variant MALY-DE 1 9392883 9392883 single base substitution G A intron_variant MALY-DE 1 9394419 9394419 insertion of <=200bp - ACAGGCATGCGGATC intron_variant MALY-DE 1 9400340 9400340 single base substitution C T intron_variant MALY-DE 1 9415052 9415052 single base substitution G T intron_variant MALY-DE 1 9415052 9415052 single base substitution G T upstream_gene_variant MALY-DE 1 9415083 9415083 single base substitution C G intron_variant MALY-DE 1 9415083 9415083 single base substitution C G upstream_gene_variant MALY-DE 1 9431042 9431042 single base substitution G A downstream_gene_variant MELA-AU 1 9347943 9347943 single base substitution C T upstream_gene_variant MELA-AU 1 9348035 9348035 single base substitution G A upstream_gene_variant MELA-AU 1 9348076 9348076 single base substitution G A upstream_gene_variant MELA-AU 1 9348292 9348292 single base substitution G A upstream_gene_variant MELA-AU 1 9348355 9348355 single base substitution G A upstream_gene_variant MELA-AU 1 9348714 9348714 single base substitution G A upstream_gene_variant MELA-AU 1 9348864 9348864 single base substitution C T upstream_gene_variant MELA-AU 1 9348951 9348951 single base substitution G A upstream_gene_variant MELA-AU 1 9349032 9349032 single base substitution C T upstream_gene_variant MELA-AU 1 9350375 9350375 single base substitution C T upstream_gene_variant MELA-AU 1 9350580 9350580 single base substitution G A upstream_gene_variant MELA-AU 1 9350604 9350604 single base substitution G A upstream_gene_variant MELA-AU 1 9351119 9351119 single base substitution C T upstream_gene_variant MELA-AU 1 9351586 9351586 single base substitution C T upstream_gene_variant MELA-AU 1 9352176 9352176 single base substitution C T upstream_gene_variant MELA-AU 1 9352206 9352206 single base substitution G A upstream_gene_variant MELA-AU 1 9353575 9353575 single base substitution C T intron_variant MELA-AU 1 9353575 9353575 single base substitution C T upstream_gene_variant MELA-AU 1 9353712 9353712 single base substitution G A intron_variant MELA-AU 1 9353712 9353712 single base substitution G A upstream_gene_variant MELA-AU 1 9353760 9353760 insertion of <=200bp - A intron_variant MELA-AU 1 9353760 9353760 insertion of <=200bp - A upstream_gene_variant MELA-AU 1 9354616 9354627 deletion of <=200bp CACAGTTTGGGG - 5_prime_UTR_variant MELA-AU 1 9354616 9354627 deletion of <=200bp CACAGTTTGGGG - intron_variant MELA-AU 1 9356273 9356273 single base substitution C G intron_variant MELA-AU 1 9356672 9356672 single base substitution C A intron_variant MELA-AU 1 9356677 9356677 single base substitution A G intron_variant MELA-AU 1 9356688 9356688 single base substitution T C intron_variant MELA-AU 1 9358971 9358971 single base substitution T G intron_variant MELA-AU 1 9359190 9359190 single base substitution C A intron_variant MELA-AU 1 9360609 9360609 single base substitution C T intron_variant MELA-AU 1 9360610 9360610 single base substitution C T intron_variant MELA-AU 1 9360784 9360784 single base substitution G A intron_variant MELA-AU 1 9360855 9360855 single base substitution C T intron_variant MELA-AU 1 9363065 9363065 single base substitution C T intron_variant MELA-AU 1 9363663 9363663 single base substitution A C intron_variant MELA-AU 1 9364089 9364089 single base substitution G A intron_variant MELA-AU 1 9364115 9364115 single base substitution C T intron_variant MELA-AU 1 9364202 9364202 single base substitution C T intron_variant MELA-AU 1 9365330 9365330 single base substitution C T intron_variant MELA-AU 1 9365386 9365387 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9365551 9365551 single base substitution C T intron_variant MELA-AU 1 9366170 9366170 single base substitution C T intron_variant MELA-AU 1 9367962 9367962 single base substitution C T intron_variant MELA-AU 1 9368357 9368357 single base substitution T A intron_variant MELA-AU 1 9368359 9368359 single base substitution C T intron_variant MELA-AU 1 9369618 9369618 single base substitution C T intron_variant MELA-AU 1 9370968 9370968 single base substitution C T intron_variant MELA-AU 1 9371858 9371858 single base substitution C T intron_variant MELA-AU 1 9371859 9371859 single base substitution C T intron_variant MELA-AU 1 9372418 9372418 single base substitution C T intron_variant MELA-AU 1 9372589 9372589 single base substitution C T intron_variant MELA-AU 1 9372599 9372599 single base substitution C T intron_variant MELA-AU 1 9372644 9372644 single base substitution T G intron_variant MELA-AU 1 9372741 9372741 single base substitution G T intron_variant MELA-AU 1 9372952 9372952 single base substitution G T intron_variant MELA-AU 1 9372954 9372954 single base substitution C T intron_variant MELA-AU 1 9373174 9373174 single base substitution G T intron_variant MELA-AU 1 9373342 9373342 single base substitution C T intron_variant MELA-AU 1 9373648 9373648 single base substitution C T intron_variant MELA-AU 1 9374279 9374279 single base substitution T C intron_variant MELA-AU 1 9374346 9374346 single base substitution C T intron_variant MELA-AU 1 9375360 9375360 single base substitution C T intron_variant MELA-AU 1 9375966 9375966 single base substitution C T intron_variant MELA-AU 1 9376629 9376629 single base substitution C T intron_variant MELA-AU 1 9376919 9376919 single base substitution T C intron_variant MELA-AU 1 9377645 9377645 single base substitution C T intron_variant MELA-AU 1 9378080 9378080 single base substitution G A intron_variant MELA-AU 1 9378155 9378155 single base substitution C T intron_variant MELA-AU 1 9378175 9378175 single base substitution A C intron_variant MELA-AU 1 9378463 9378463 single base substitution G C intron_variant MELA-AU 1 9379090 9379090 single base substitution A C intron_variant MELA-AU 1 9379499 9379499 single base substitution C T intron_variant MELA-AU 1 9379829 9379829 single base substitution G A intron_variant MELA-AU 1 9380001 9380001 single base substitution C T intron_variant MELA-AU 1 9380084 9380084 single base substitution C T intron_variant MELA-AU 1 9380300 9380300 single base substitution C T intron_variant MELA-AU 1 9380612 9380612 single base substitution C G intron_variant MELA-AU 1 9380807 9380807 single base substitution C T intron_variant MELA-AU 1 9381015 9381015 single base substitution C T intron_variant MELA-AU 1 9381161 9381162 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9381203 9381203 single base substitution C T intron_variant MELA-AU 1 9381518 9381518 single base substitution C T intron_variant MELA-AU 1 9382445 9382445 single base substitution C T intron_variant MELA-AU 1 9383462 9383462 single base substitution C T intron_variant MELA-AU 1 9383638 9383638 single base substitution C T intron_variant MELA-AU 1 9384791 9384791 single base substitution G A intron_variant MELA-AU 1 9385001 9385001 single base substitution C T intron_variant MELA-AU 1 9385386 9385386 single base substitution G A intron_variant MELA-AU 1 9385898 9385898 single base substitution G A intron_variant MELA-AU 1 9386056 9386056 single base substitution T C intron_variant MELA-AU 1 9386650 9386650 single base substitution C T intron_variant MELA-AU 1 9386849 9386849 single base substitution C T intron_variant MELA-AU 1 9386894 9386894 single base substitution C T intron_variant MELA-AU 1 9387239 9387239 single base substitution C T intron_variant MELA-AU 1 9387721 9387721 single base substitution T C intron_variant MELA-AU 1 9388037 9388037 single base substitution G C intron_variant MELA-AU 1 9388101 9388101 single base substitution C T intron_variant MELA-AU 1 9388548 9388548 single base substitution C T intron_variant MELA-AU 1 9389411 9389411 single base substitution C T intron_variant MELA-AU 1 9390480 9390480 single base substitution T G intron_variant MELA-AU 1 9390960 9390960 single base substitution C T intron_variant MELA-AU 1 9391023 9391023 single base substitution C T intron_variant MELA-AU 1 9391213 9391213 single base substitution C T intron_variant MELA-AU 1 9391803 9391803 single base substitution C T intron_variant MELA-AU 1 9391912 9391912 single base substitution C T intron_variant MELA-AU 1 9392157 9392157 single base substitution C T intron_variant MELA-AU 1 9392181 9392181 single base substitution G A intron_variant MELA-AU 1 9392332 9392332 insertion of <=200bp - A intron_variant MELA-AU 1 9392678 9392678 single base substitution C T intron_variant MELA-AU 1 9393096 9393096 single base substitution C T intron_variant MELA-AU 1 9394011 9394011 single base substitution T A intron_variant MELA-AU 1 9394709 9394709 single base substitution C T intron_variant MELA-AU 1 9395231 9395231 single base substitution C T intron_variant MELA-AU 1 9395389 9395389 single base substitution C T intron_variant MELA-AU 1 9395670 9395671 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9395818 9395818 single base substitution G A intron_variant MELA-AU 1 9395997 9395997 single base substitution C T intron_variant MELA-AU 1 9396598 9396598 single base substitution C T intron_variant MELA-AU 1 9397003 9397003 single base substitution C T intron_variant MELA-AU 1 9397114 9397114 single base substitution C T intron_variant MELA-AU 1 9397461 9397461 single base substitution C T intron_variant MELA-AU 1 9398037 9398037 single base substitution G A intron_variant MELA-AU 1 9398535 9398535 single base substitution C T intron_variant MELA-AU 1 9398602 9398602 single base substitution A T intron_variant MELA-AU 1 9398900 9398900 single base substitution C T intron_variant MELA-AU 1 9399160 9399160 single base substitution C T intron_variant MELA-AU 1 9399218 9399218 single base substitution C T intron_variant MELA-AU 1 9399323 9399323 single base substitution C G intron_variant MELA-AU 1 9399471 9399471 single base substitution C T intron_variant MELA-AU 1 9399771 9399771 single base substitution C T intron_variant MELA-AU 1 9399787 9399787 single base substitution C T intron_variant MELA-AU 1 9400897 9400897 single base substitution C T intron_variant MELA-AU 1 9401986 9401987 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9402622 9402622 single base substitution C T intron_variant MELA-AU 1 9402935 9402935 single base substitution C T intron_variant MELA-AU 1 9403317 9403317 single base substitution C T intron_variant MELA-AU 1 9403362 9403362 single base substitution C T intron_variant MELA-AU 1 9403580 9403580 single base substitution T A intron_variant MELA-AU 1 9403803 9403803 single base substitution C T intron_variant MELA-AU 1 9404012 9404012 insertion of <=200bp - T intron_variant MELA-AU 1 9404404 9404404 single base substitution C T intron_variant MELA-AU 1 9404457 9404457 single base substitution C T intron_variant MELA-AU 1 9404621 9404621 single base substitution G A intron_variant MELA-AU 1 9404862 9404862 single base substitution C T intron_variant MELA-AU 1 9404890 9404890 single base substitution C T intron_variant MELA-AU 1 9405364 9405365 multiple base substitution (>=2bp and <=200bp) TG CA intron_variant MELA-AU 1 9405919 9405919 single base substitution C T intron_variant MELA-AU 1 9406725 9406725 single base substitution C T intron_variant MELA-AU 1 9406725 9406725 single base substitution C T upstream_gene_variant MELA-AU 1 9407177 9407177 single base substitution A C intron_variant MELA-AU 1 9407177 9407177 single base substitution A C upstream_gene_variant MELA-AU 1 9407520 9407520 single base substitution C T intron_variant MELA-AU 1 9407520 9407520 single base substitution C T upstream_gene_variant MELA-AU 1 9407748 9407748 single base substitution G A intron_variant MELA-AU 1 9407748 9407748 single base substitution G A upstream_gene_variant MELA-AU 1 9407793 9407793 single base substitution C T intron_variant MELA-AU 1 9407793 9407793 single base substitution C T upstream_gene_variant MELA-AU 1 9408034 9408034 single base substitution C T intron_variant MELA-AU 1 9408034 9408034 single base substitution C T upstream_gene_variant MELA-AU 1 9408535 9408535 single base substitution C T intron_variant MELA-AU 1 9408535 9408535 single base substitution C T upstream_gene_variant MELA-AU 1 9408612 9408612 single base substitution C T intron_variant MELA-AU 1 9408612 9408612 single base substitution C T upstream_gene_variant MELA-AU 1 9408991 9408991 single base substitution C T intron_variant MELA-AU 1 9408991 9408991 single base substitution C T upstream_gene_variant MELA-AU 1 9409151 9409151 single base substitution C T intron_variant MELA-AU 1 9409151 9409151 single base substitution C T upstream_gene_variant MELA-AU 1 9409333 9409333 single base substitution C T intron_variant MELA-AU 1 9409333 9409333 single base substitution C T upstream_gene_variant MELA-AU 1 9409348 9409348 single base substitution C T intron_variant MELA-AU 1 9409348 9409348 single base substitution C T upstream_gene_variant MELA-AU 1 9409487 9409487 single base substitution G T intron_variant MELA-AU 1 9409487 9409487 single base substitution G T upstream_gene_variant MELA-AU 1 9409894 9409894 single base substitution G A intron_variant MELA-AU 1 9409894 9409894 single base substitution G A upstream_gene_variant MELA-AU 1 9409913 9409913 single base substitution C T intron_variant MELA-AU 1 9409913 9409913 single base substitution C T upstream_gene_variant MELA-AU 1 9410205 9410205 single base substitution C G intron_variant MELA-AU 1 9410205 9410205 single base substitution C G upstream_gene_variant MELA-AU 1 9411193 9411193 single base substitution T G intron_variant MELA-AU 1 9411193 9411193 single base substitution T G upstream_gene_variant MELA-AU 1 9411274 9411274 single base substitution C T intron_variant MELA-AU 1 9411274 9411274 single base substitution C T upstream_gene_variant MELA-AU 1 9411675 9411675 single base substitution G A intron_variant MELA-AU 1 9411675 9411675 single base substitution G A upstream_gene_variant MELA-AU 1 9411685 9411685 single base substitution C T intron_variant MELA-AU 1 9411685 9411685 single base substitution C T upstream_gene_variant MELA-AU 1 9411685 9411686 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9411685 9411686 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 9412049 9412049 single base substitution C T intron_variant MELA-AU 1 9412049 9412049 single base substitution C T upstream_gene_variant MELA-AU 1 9412051 9412051 single base substitution C G intron_variant MELA-AU 1 9412051 9412051 single base substitution C G upstream_gene_variant MELA-AU 1 9412055 9412055 single base substitution C T intron_variant MELA-AU 1 9412055 9412055 single base substitution C T upstream_gene_variant MELA-AU 1 9412735 9412736 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9412735 9412736 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 9413260 9413260 single base substitution C T intron_variant MELA-AU 1 9413260 9413260 single base substitution C T upstream_gene_variant MELA-AU 1 9413430 9413430 single base substitution C T intron_variant MELA-AU 1 9413430 9413430 single base substitution C T upstream_gene_variant MELA-AU 1 9414386 9414386 single base substitution C T intron_variant MELA-AU 1 9414386 9414386 single base substitution C T upstream_gene_variant MELA-AU 1 9414463 9414464 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 9414463 9414464 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 9414559 9414559 single base substitution C T intron_variant MELA-AU 1 9414559 9414559 single base substitution C T upstream_gene_variant MELA-AU 1 9414754 9414754 single base substitution C T intron_variant MELA-AU 1 9414754 9414754 single base substitution C T upstream_gene_variant MELA-AU 1 9416289 9416289 single base substitution C T synonymous_variant A113A 339C>T MELA-AU 1 9417231 9417231 single base substitution G A downstream_gene_variant MELA-AU 1 9417231 9417231 single base substitution G A intron_variant MELA-AU 1 9417333 9417333 single base substitution T A downstream_gene_variant MELA-AU 1 9417333 9417333 single base substitution T A intron_variant MELA-AU 1 9417527 9417527 single base substitution C T downstream_gene_variant MELA-AU 1 9417527 9417527 single base substitution C T intron_variant MELA-AU 1 9417530 9417530 single base substitution C T downstream_gene_variant MELA-AU 1 9417530 9417530 single base substitution C T intron_variant MELA-AU 1 9418183 9418183 single base substitution T C downstream_gene_variant MELA-AU 1 9418183 9418183 single base substitution T C intron_variant MELA-AU 1 9418325 9418325 single base substitution G T downstream_gene_variant MELA-AU 1 9418325 9418325 single base substitution G T intron_variant MELA-AU 1 9418371 9418372 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 1 9418371 9418372 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 1 9418654 9418654 single base substitution C T downstream_gene_variant MELA-AU 1 9418654 9418654 single base substitution C T intron_variant MELA-AU 1 9419457 9419457 single base substitution T G downstream_gene_variant MELA-AU 1 9419457 9419457 single base substitution T G intron_variant MELA-AU 1 9419482 9419482 single base substitution G A downstream_gene_variant MELA-AU 1 9419482 9419482 single base substitution G A intron_variant MELA-AU 1 9419636 9419636 single base substitution C T downstream_gene_variant MELA-AU 1 9419636 9419636 single base substitution C T intron_variant MELA-AU 1 9419937 9419937 single base substitution C T downstream_gene_variant MELA-AU 1 9419937 9419937 single base substitution C T intron_variant MELA-AU 1 9420564 9420564 single base substitution G A downstream_gene_variant MELA-AU 1 9420564 9420564 single base substitution G A intron_variant MELA-AU 1 9420707 9420707 single base substitution C T downstream_gene_variant MELA-AU 1 9420707 9420707 single base substitution C T intron_variant MELA-AU 1 9420714 9420714 single base substitution C T downstream_gene_variant MELA-AU 1 9420714 9420714 single base substitution C T intron_variant MELA-AU 1 9420729 9420729 single base substitution C T downstream_gene_variant MELA-AU 1 9420729 9420729 single base substitution C T intron_variant MELA-AU 1 9420741 9420741 single base substitution C T downstream_gene_variant MELA-AU 1 9420741 9420741 single base substitution C T intron_variant MELA-AU 1 9420910 9420910 single base substitution C T downstream_gene_variant MELA-AU 1 9420910 9420910 single base substitution C T intron_variant MELA-AU 1 9421025 9421025 single base substitution C T downstream_gene_variant MELA-AU 1 9421025 9421025 single base substitution C T intron_variant MELA-AU 1 9421483 9421483 single base substitution C T downstream_gene_variant MELA-AU 1 9421483 9421483 single base substitution C T intron_variant MELA-AU 1 9421491 9421491 single base substitution A T downstream_gene_variant MELA-AU 1 9421491 9421491 single base substitution A T intron_variant MELA-AU 1 9421547 9421547 single base substitution C T downstream_gene_variant MELA-AU 1 9421547 9421547 single base substitution C T intron_variant MELA-AU 1 9422239 9422239 insertion of <=200bp - CCCT intron_variant MELA-AU 1 9422688 9422688 single base substitution C T intron_variant MELA-AU 1 9423124 9423124 single base substitution C T intron_variant MELA-AU 1 9423313 9423313 single base substitution G C intron_variant MELA-AU 1 9423562 9423562 single base substitution C T intron_variant MELA-AU 1 9424255 9424255 single base substitution C T intron_variant MELA-AU 1 9424813 9424813 single base substitution C T intron_variant MELA-AU 1 9424887 9424887 single base substitution G T intron_variant MELA-AU 1 9424906 9424906 single base substitution C T intron_variant MELA-AU 1 9425175 9425175 single base substitution C T intron_variant MELA-AU 1 9426454 9426454 single base substitution T C intron_variant MELA-AU 1 9426997 9426997 single base substitution C T intron_variant MELA-AU 1 9427124 9427124 single base substitution C T intron_variant MELA-AU 1 9427135 9427135 single base substitution G A intron_variant MELA-AU 1 9427305 9427305 single base substitution C G intron_variant MELA-AU 1 9427796 9427796 single base substitution G A 3_prime_UTR_variant MELA-AU 1 9427796 9427796 single base substitution G A downstream_gene_variant MELA-AU 1 9428278 9428278 single base substitution C T 3_prime_UTR_variant MELA-AU 1 9428278 9428278 single base substitution C T downstream_gene_variant MELA-AU 1 9428679 9428680 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 9428679 9428680 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 9428757 9428757 single base substitution C T 3_prime_UTR_variant MELA-AU 1 9428757 9428757 single base substitution C T downstream_gene_variant MELA-AU 1 9429605 9429605 single base substitution C T downstream_gene_variant MELA-AU 1 9430402 9430402 single base substitution G T downstream_gene_variant MELA-AU 1 9430680 9430680 single base substitution C T downstream_gene_variant MELA-AU 1 9432161 9432161 single base substitution C T downstream_gene_variant MELA-AU 1 9432279 9432279 single base substitution G A downstream_gene_variant MELA-AU 1 9432280 9432280 single base substitution G A downstream_gene_variant MELA-AU 1 9432625 9432625 single base substitution G A downstream_gene_variant MELA-AU 1 9432870 9432870 single base substitution C T downstream_gene_variant MELA-AU 1 9433383 9433383 single base substitution C T downstream_gene_variant MELA-AU 1 9433719 9433719 single base substitution C T downstream_gene_variant MELA-AU 1 9433903 9433903 single base substitution C T downstream_gene_variant ORCA-IN 1 9356572 9356572 single base substitution C T intron_variant ORCA-IN 1 9363652 9363652 single base substitution C T intron_variant ORCA-IN 1 9384892 9384892 single base substitution C G intron_variant ORCA-IN 1 9385896 9385896 single base substitution G A intron_variant ORCA-IN 1 9427125 9427125 single base substitution G A intron_variant ORCA-IN 1 9427520 9427520 single base substitution G A synonymous_variant P236P 708G>A OV-AU 1 9358760 9358760 single base substitution G A intron_variant OV-AU 1 9359383 9359383 single base substitution G T intron_variant OV-AU 1 9367011 9367011 single base substitution G C intron_variant OV-AU 1 9369366 9369366 single base substitution T A intron_variant OV-AU 1 9374220 9374220 single base substitution T C intron_variant OV-AU 1 9384475 9384475 single base substitution G A intron_variant OV-AU 1 9387670 9387670 single base substitution A C intron_variant OV-AU 1 9389116 9389116 single base substitution A C intron_variant OV-AU 1 9390249 9390249 single base substitution G C intron_variant OV-AU 1 9390830 9390830 single base substitution G A intron_variant OV-AU 1 9392402 9392402 single base substitution T G intron_variant OV-AU 1 9400437 9400437 single base substitution C A intron_variant OV-AU 1 9400622 9400622 single base substitution G A intron_variant OV-AU 1 9401591 9401591 single base substitution C A intron_variant OV-AU 1 9406894 9406894 single base substitution G T intron_variant OV-AU 1 9406894 9406894 single base substitution G T upstream_gene_variant OV-AU 1 9410202 9410202 single base substitution A G intron_variant OV-AU 1 9410202 9410202 single base substitution A G upstream_gene_variant OV-AU 1 9412886 9412886 single base substitution A C intron_variant OV-AU 1 9412886 9412886 single base substitution A C upstream_gene_variant OV-AU 1 9416090 9416090 single base substitution C T missense_variant S47F 140C>T OV-AU 1 9418259 9418259 single base substitution A G downstream_gene_variant OV-AU 1 9418259 9418259 single base substitution A G intron_variant OV-AU 1 9419074 9419074 single base substitution G T downstream_gene_variant OV-AU 1 9419074 9419074 single base substitution G T intron_variant PACA-AU 1 9354105 9354105 single base substitution G C intron_variant PACA-AU 1 9354105 9354105 single base substitution G C upstream_gene_variant PACA-AU 1 9355436 9355436 single base substitution C T intron_variant PACA-AU 1 9360226 9360226 single base substitution C T intron_variant PACA-AU 1 9369131 9369131 single base substitution A T intron_variant PACA-AU 1 9378359 9378360 deletion of <=200bp TT - intron_variant PACA-AU 1 9378867 9378867 single base substitution A G intron_variant PACA-AU 1 9380365 9380365 single base substitution C T intron_variant PACA-AU 1 9390534 9390534 single base substitution A G intron_variant PACA-AU 1 9399025 9399025 single base substitution C T intron_variant PACA-AU 1 9402794 9402794 single base substitution G A intron_variant PACA-AU 1 9405247 9405247 single base substitution C T intron_variant PACA-AU 1 9407740 9407740 single base substitution G A intron_variant PACA-AU 1 9407740 9407740 single base substitution G A upstream_gene_variant PACA-AU 1 9408336 9408336 single base substitution C T intron_variant PACA-AU 1 9408336 9408336 single base substitution C T upstream_gene_variant PACA-AU 1 9410456 9410456 single base substitution G A intron_variant PACA-AU 1 9410456 9410456 single base substitution G A upstream_gene_variant PACA-AU 1 9411458 9411458 single base substitution A G intron_variant PACA-AU 1 9411458 9411458 single base substitution A G upstream_gene_variant PACA-AU 1 9412055 9412055 deletion of <=200bp C - intron_variant PACA-AU 1 9412055 9412055 deletion of <=200bp C - upstream_gene_variant PACA-AU 1 9412351 9412351 single base substitution G A intron_variant PACA-AU 1 9412351 9412351 single base substitution G A upstream_gene_variant PACA-AU 1 9414828 9414828 single base substitution C T intron_variant PACA-AU 1 9414828 9414828 single base substitution C T upstream_gene_variant PACA-AU 1 9421604 9421604 single base substitution C A intron_variant PACA-AU 1 9422847 9422848 deletion of <=200bp TC - intron_variant PACA-AU 1 9424887 9424887 single base substitution G T intron_variant PACA-AU 1 9425993 9425993 single base substitution G T intron_variant PACA-AU 1 9433001 9433001 single base substitution C T downstream_gene_variant PACA-CA 1 9347978 9347978 single base substitution A T upstream_gene_variant PACA-CA 1 9349606 9349606 single base substitution C T upstream_gene_variant PACA-CA 1 9357180 9357180 single base substitution G A intron_variant PACA-CA 1 9360408 9360408 single base substitution C G intron_variant PACA-CA 1 9365173 9365173 single base substitution C T intron_variant PACA-CA 1 9368054 9368054 single base substitution T C intron_variant PACA-CA 1 9369340 9369340 single base substitution T A intron_variant PACA-CA 1 9370254 9370254 single base substitution C T intron_variant PACA-CA 1 9370361 9370361 single base substitution C T intron_variant PACA-CA 1 9377691 9377691 insertion of <=200bp - AT intron_variant PACA-CA 1 9379835 9379835 single base substitution C T intron_variant PACA-CA 1 9380146 9380146 single base substitution G A intron_variant PACA-CA 1 9383725 9383725 single base substitution C T intron_variant PACA-CA 1 9385257 9385257 single base substitution C T intron_variant PACA-CA 1 9388226 9388226 single base substitution C T intron_variant PACA-CA 1 9389935 9389935 single base substitution C T intron_variant PACA-CA 1 9392204 9392204 single base substitution G T intron_variant PACA-CA 1 9394290 9394290 single base substitution G A intron_variant PACA-CA 1 9408350 9408350 single base substitution C T intron_variant PACA-CA 1 9408350 9408350 single base substitution C T upstream_gene_variant PACA-CA 1 9408472 9408472 single base substitution C G intron_variant PACA-CA 1 9408472 9408472 single base substitution C G upstream_gene_variant PACA-CA 1 9410454 9410454 single base substitution G A intron_variant PACA-CA 1 9410454 9410454 single base substitution G A upstream_gene_variant PACA-CA 1 9416424 9416424 insertion of <=200bp - A frameshift_variant S158R? PACA-CA 1 9416563 9416563 single base substitution A T downstream_gene_variant PACA-CA 1 9416563 9416563 single base substitution A T stop_gained K205* 613A>T PACA-CA 1 9416681 9416681 single base substitution C T downstream_gene_variant PACA-CA 1 9416681 9416681 single base substitution C T intron_variant PACA-CA 1 9420639 9420639 single base substitution C T downstream_gene_variant PACA-CA 1 9420639 9420639 single base substitution C T intron_variant PACA-CA 1 9428548 9428548 single base substitution T A 3_prime_UTR_variant PACA-CA 1 9428548 9428548 single base substitution T A downstream_gene_variant PACA-CA 1 9431626 9431626 single base substitution C T downstream_gene_variant PACA-CA 1 9433469 9433469 single base substitution G A downstream_gene_variant PAEN-AU 1 9364940 9364940 single base substitution C T intron_variant PAEN-AU 1 9417231 9417231 single base substitution G A downstream_gene_variant PAEN-AU 1 9417231 9417231 single base substitution G A intron_variant PAEN-AU 1 9424887 9424887 single base substitution G T intron_variant PAEN-IT 1 9372988 9372988 single base substitution G A intron_variant PAEN-IT 1 9382921 9382921 single base substitution C T intron_variant PBCA-DE 1 9348122 9348122 single base substitution C A upstream_gene_variant PBCA-DE 1 9355489 9355489 single base substitution G A intron_variant PBCA-DE 1 9357449 9357449 single base substitution G A intron_variant PBCA-DE 1 9366297 9366297 single base substitution C T intron_variant PBCA-DE 1 9366318 9366318 single base substitution C T intron_variant PBCA-DE 1 9368334 9368334 single base substitution G A intron_variant PBCA-DE 1 9384573 9384573 single base substitution C G intron_variant PBCA-DE 1 9385292 9385292 single base substitution C T intron_variant PBCA-DE 1 9390534 9390534 single base substitution A G intron_variant PBCA-DE 1 9396295 9396295 insertion of <=200bp - T intron_variant PBCA-DE 1 9397956 9397956 single base substitution G A intron_variant PBCA-DE 1 9398179 9398179 single base substitution C T intron_variant PBCA-DE 1 9403270 9403270 single base substitution G A intron_variant PBCA-DE 1 9410161 9410162 deletion of <=200bp AC - intron_variant PBCA-DE 1 9410161 9410162 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 1 9424509 9424509 single base substitution C T intron_variant PBCA-DE 1 9426040 9426040 single base substitution G A intron_variant PBCA-DE 1 9428403 9428403 single base substitution C G 3_prime_UTR_variant PBCA-DE 1 9428403 9428403 single base substitution C G downstream_gene_variant PBCA-DE 1 9429536 9429536 single base substitution A T 3_prime_UTR_variant PBCA-DE 1 9429536 9429536 single base substitution A T downstream_gene_variant PBCA-DE 1 9433354 9433354 single base substitution G A downstream_gene_variant PRAD-CA 1 9356651 9356651 single base substitution A G intron_variant PRAD-CA 1 9370253 9370253 single base substitution T C intron_variant PRAD-CA 1 9370254 9370254 single base substitution C T intron_variant PRAD-CA 1 9372904 9372904 single base substitution G T intron_variant PRAD-CA 1 9399040 9399040 single base substitution C A intron_variant PRAD-CA 1 9413848 9413848 single base substitution G C intron_variant PRAD-CA 1 9413848 9413848 single base substitution G C upstream_gene_variant PRAD-CA 1 9417176 9417176 single base substitution A G downstream_gene_variant PRAD-CA 1 9417176 9417176 single base substitution A G intron_variant PRAD-UK 1 9365919 9365919 single base substitution G A intron_variant PRAD-UK 1 9369349 9369370 deletion of <=200bp GAGAGAGAGAGAGTGTGTGTGT - intron_variant PRAD-UK 1 9386055 9386055 single base substitution G A intron_variant PRAD-UK 1 9410195 9410195 single base substitution T A intron_variant PRAD-UK 1 9410195 9410195 single base substitution T A upstream_gene_variant PRAD-UK 1 9415943 9415943 single base substitution G A 5_prime_UTR_variant PRAD-UK 1 9417749 9417749 single base substitution C G downstream_gene_variant PRAD-UK 1 9417749 9417749 single base substitution C G intron_variant PRAD-UK 1 9425550 9425550 single base substitution A G intron_variant PRAD-UK 1 9428092 9428092 single base substitution C A 3_prime_UTR_variant PRAD-UK 1 9428092 9428092 single base substitution C A downstream_gene_variant RECA-EU 1 9351787 9351787 single base substitution G A upstream_gene_variant RECA-EU 1 9367134 9367134 single base substitution G A intron_variant RECA-EU 1 9370253 9370253 single base substitution T C intron_variant RECA-EU 1 9370254 9370254 single base substitution C T intron_variant RECA-EU 1 9370498 9370498 single base substitution T C intron_variant RECA-EU 1 9382255 9382255 single base substitution C G intron_variant RECA-EU 1 9382564 9382564 single base substitution A G intron_variant RECA-EU 1 9386539 9386539 single base substitution A G intron_variant RECA-EU 1 9392867 9392867 single base substitution A T intron_variant RECA-EU 1 9405063 9405063 single base substitution A G intron_variant RECA-EU 1 9405817 9405817 single base substitution C A intron_variant RECA-EU 1 9411570 9411570 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant RECA-EU 1 9411570 9411570 single base substitution G T intron_variant RECA-EU 1 9411570 9411570 single base substitution G T upstream_gene_variant RECA-EU 1 9414973 9414973 single base substitution G C intron_variant RECA-EU 1 9414973 9414973 single base substitution G C upstream_gene_variant RECA-EU 1 9423093 9423093 single base substitution C T intron_variant RECA-EU 1 9425106 9425106 single base substitution A T intron_variant RECA-EU 1 9428557 9428557 single base substitution G T 3_prime_UTR_variant RECA-EU 1 9428557 9428557 single base substitution G T downstream_gene_variant SKCA-BR 1 9350135 9350135 single base substitution T G upstream_gene_variant SKCA-BR 1 9350151 9350151 single base substitution A G upstream_gene_variant SKCA-BR 1 9351017 9351018 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 1 9352918 9352918 single base substitution T C upstream_gene_variant SKCA-BR 1 9353428 9353428 single base substitution T G intron_variant SKCA-BR 1 9353428 9353428 single base substitution T G upstream_gene_variant SKCA-BR 1 9353617 9353617 single base substitution A C intron_variant SKCA-BR 1 9353617 9353617 single base substitution A C upstream_gene_variant SKCA-BR 1 9353621 9353621 single base substitution T C intron_variant SKCA-BR 1 9353621 9353621 single base substitution T C upstream_gene_variant SKCA-BR 1 9353639 9353639 single base substitution A C intron_variant SKCA-BR 1 9353639 9353639 single base substitution A C upstream_gene_variant SKCA-BR 1 9353672 9353672 single base substitution T C intron_variant SKCA-BR 1 9353672 9353672 single base substitution T C upstream_gene_variant SKCA-BR 1 9354068 9354068 single base substitution T C intron_variant SKCA-BR 1 9354068 9354068 single base substitution T C upstream_gene_variant SKCA-BR 1 9354162 9354162 insertion of <=200bp - TGTGA intron_variant SKCA-BR 1 9354162 9354162 insertion of <=200bp - TGTGA upstream_gene_variant SKCA-BR 1 9356676 9356676 single base substitution T C intron_variant SKCA-BR 1 9358094 9358094 single base substitution G A intron_variant SKCA-BR 1 9358433 9358445 deletion of <=200bp ATGAATGAATGAG - intron_variant SKCA-BR 1 9358438 9358466 deletion of <=200bp TGAATGAGTGAATGAATGAATGAGTGAAC - intron_variant SKCA-BR 1 9358441 9358441 insertion of <=200bp - ATGAATGAG intron_variant SKCA-BR 1 9358445 9358445 single base substitution G A intron_variant SKCA-BR 1 9358453 9358453 single base substitution A G intron_variant SKCA-BR 1 9359527 9359527 insertion of <=200bp - ATCTC intron_variant SKCA-BR 1 9359936 9359936 single base substitution C T intron_variant SKCA-BR 1 9361135 9361135 single base substitution T C intron_variant SKCA-BR 1 9361378 9361378 single base substitution C T intron_variant SKCA-BR 1 9363196 9363196 single base substitution G A intron_variant SKCA-BR 1 9366485 9366485 single base substitution C T intron_variant SKCA-BR 1 9367906 9367906 single base substitution C T intron_variant SKCA-BR 1 9370157 9370157 single base substitution C T intron_variant SKCA-BR 1 9372257 9372257 single base substitution C T intron_variant SKCA-BR 1 9373928 9373928 single base substitution C T intron_variant SKCA-BR 1 9379681 9379681 single base substitution C T intron_variant SKCA-BR 1 9379840 9379840 single base substitution T G intron_variant SKCA-BR 1 9380985 9380985 single base substitution C T intron_variant SKCA-BR 1 9383200 9383200 single base substitution T C intron_variant SKCA-BR 1 9383360 9383360 single base substitution C T intron_variant SKCA-BR 1 9385284 9385286 deletion of <=200bp ACC - intron_variant SKCA-BR 1 9385287 9385287 single base substitution C A intron_variant SKCA-BR 1 9385289 9385289 single base substitution C A intron_variant SKCA-BR 1 9385295 9385295 single base substitution C T intron_variant SKCA-BR 1 9385295 9385297 deletion of <=200bp CCG - intron_variant SKCA-BR 1 9385297 9385297 single base substitution G T intron_variant SKCA-BR 1 9386993 9386993 single base substitution T C intron_variant SKCA-BR 1 9393387 9393388 deletion of <=200bp CT - intron_variant SKCA-BR 1 9395679 9395679 single base substitution G A intron_variant SKCA-BR 1 9397752 9397752 single base substitution C T intron_variant SKCA-BR 1 9399944 9399944 single base substitution T G intron_variant SKCA-BR 1 9402621 9402621 single base substitution C T intron_variant SKCA-BR 1 9402692 9402692 single base substitution T C intron_variant SKCA-BR 1 9403395 9403395 single base substitution C T intron_variant SKCA-BR 1 9404377 9404377 single base substitution C G intron_variant SKCA-BR 1 9406080 9406080 single base substitution T C intron_variant SKCA-BR 1 9407254 9407254 single base substitution A T intron_variant SKCA-BR 1 9407254 9407254 single base substitution A T upstream_gene_variant SKCA-BR 1 9408004 9408004 single base substitution T C intron_variant SKCA-BR 1 9408004 9408004 single base substitution T C upstream_gene_variant SKCA-BR 1 9408600 9408600 single base substitution C T intron_variant SKCA-BR 1 9408600 9408600 single base substitution C T upstream_gene_variant SKCA-BR 1 9409705 9409705 single base substitution T G intron_variant SKCA-BR 1 9409705 9409705 single base substitution T G upstream_gene_variant SKCA-BR 1 9413016 9413016 insertion of <=200bp - AG intron_variant SKCA-BR 1 9413016 9413016 insertion of <=200bp - AG upstream_gene_variant SKCA-BR 1 9415773 9415773 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 9415773 9415773 single base substitution C T intron_variant SKCA-BR 1 9415795 9415795 single base substitution C T 5_prime_UTR_variant SKCA-BR 1 9415795 9415795 single base substitution C T intron_variant SKCA-BR 1 9415795 9415795 single base substitution C T splice_region_variant SKCA-BR 1 9418553 9418553 single base substitution C T downstream_gene_variant SKCA-BR 1 9418553 9418553 single base substitution C T intron_variant SKCA-BR 1 9419764 9419764 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 1 9419764 9419764 insertion of <=200bp - GA intron_variant SKCA-BR 1 9420488 9420488 single base substitution T G downstream_gene_variant SKCA-BR 1 9420488 9420488 single base substitution T G intron_variant SKCA-BR 1 9421215 9421215 insertion of <=200bp - CCTT downstream_gene_variant SKCA-BR 1 9421215 9421215 insertion of <=200bp - CCTT intron_variant SKCA-BR 1 9421216 9421216 single base substitution T C downstream_gene_variant SKCA-BR 1 9421216 9421216 single base substitution T C intron_variant SKCA-BR 1 9426827 9426827 single base substitution T C intron_variant SKCA-BR 1 9427500 9427500 single base substitution T C intron_variant SKCA-BR 1 9430436 9430436 single base substitution C T downstream_gene_variant SKCA-BR 1 9430677 9430677 single base substitution C T downstream_gene_variant SKCA-BR 1 9430678 9430678 single base substitution C T downstream_gene_variant SKCA-BR 1 9431146 9431146 single base substitution C T downstream_gene_variant SKCM-US 1 9416002 9416002 single base substitution A T missense_variant T18S 52A>T SKCM-US 1 9416028 9416028 single base substitution C T synonymous_variant L26L 78C>T SKCM-US 1 9416153 9416153 single base substitution A G missense_variant K68R 203A>G SKCM-US 1 9416185 9416185 single base substitution C T missense_variant P79S 235C>T SKCM-US 1 9416313 9416313 single base substitution C A missense_variant D121E 363C>A SKCM-US 1 9416477 9416477 single base substitution C T missense_variant S176F 527C>T SKCM-US 1 9416478 9416478 single base substitution C T synonymous_variant S176S 528C>T SKCM-US 1 9416581 9416581 single base substitution C T downstream_gene_variant SKCM-US 1 9416581 9416581 single base substitution C T missense_variant P211S 631C>T SKCM-US 1 9416644 9416644 single base substitution C T downstream_gene_variant SKCM-US 1 9416644 9416644 single base substitution C T missense_variant P232S 694C>T SKCM-US 1 9427561 9427561 single base substitution G A missense_variant G250E 749G>A STAD-US 1 9416314 9416314 insertion of <=200bp - C frameshift_variant A122R? STAD-US 1 9416315 9416315 insertion of <=200bp - C frameshift_variant A122A? STAD-US 1 9416386 9416386 single base substitution C T missense_variant R146C 436C>T THCA-SA 1 9416346 9416346 single base substitution C T synonymous_variant L132L 396C>T UCEC-US 1 9416287 9416287 single base substitution G A missense_variant A113T 337G>A UCEC-US 1 9416307 9416307 single base substitution G A synonymous_variant T119T 357G>A UCEC-US 1 9416592 9416592 single base substitution T C downstream_gene_variant UCEC-US 1 9416592 9416592 single base substitution T C synonymous_variant S214S 642T>C UCEC-US 1 9416618 9416618 single base substitution G A downstream_gene_variant UCEC-US 1 9416618 9416618 single base substitution G A missense_variant R223Q 668G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WA16 COSM238235 c.336C>T p.H112H Substitution - coding silent 1:9356227-9356227 + TCGA-B0-5097-01 COSM465109 c.22G>A p.G8R Substitution - Missense 1:9355913-9355913 + TCGA-FS-A1ZA-06 COSM3493433 c.52A>T p.T18S Substitution - Missense 1:9355943-9355943 + Au2 COSM5600566 c.408C>T p.N136N Substitution - coding silent 1:9356299-9356299 + TCGA-EK-A2PG-01 COSM4819141 c.623A>G p.K208R Substitution - Missense 1:9356514-9356514 + SC_9047 COSM913420 c.668G>A p.R223Q Substitution - Missense 1:9356559-9356559 + TCGA-BP-5182-01 COSM465110 c.197T>C p.F66S Substitution - Missense 1:9356088-9356088 + Pat_04_A COSM5847503 c.377C>T p.S126F Substitution - Missense 1:9356268-9356268 + KM12 COSM1667124 c.326G>A p.R109Q Substitution - Missense 1:9356217-9356217 + 2492700 COSM5600566 c.408C>T p.N136N Substitution - coding silent 1:9356299-9356299 + 2492703 COSM5600565 c.553G>A p.D185N Substitution - Missense 1:9356444-9356444 + TCGA-EE-A2MR-06 COSM3493437 c.631C>T p.P211S Substitution - Missense 1:9356522-9356522 + AOCS-155-3-5 COSM3952741 c.140C>T p.S47F Substitution - Missense 1:9356031-9356031 + PCSI_0142_Pa_P_526 COSM4964923 c.613A>T p.K205* Substitution - Nonsense 1:9356504-9356504 + TCGA-FW-A5DY-06 COSM3493436 c.528C>T p.S176S Substitution - coding silent 1:9356419-9356419 + CHC205T COSM3747118 c.396C>T p.L132L Substitution - coding silent 1:9356287-9356287 + TCGA-B0-4693-01 COSM3361057 c.627G>A p.L209L Substitution - coding silent 1:9356518-9356518 + CN-AML-08-T COSM4144259 c.201G>A p.V67V Substitution - coding silent 1:9356092-9356092 + TCGA-AA-3713-01 COSM1344946 c.585G>T p.Q195H Substitution - Missense 1:9356476-9356476 + TCGA-BF-A3DM-01 COSM3866255 c.235C>T p.P79S Substitution - Missense 1:9356126-9356126 + PTC-10C COSM4144259 c.201G>A p.V67V Substitution - coding silent 1:9356092-9356092 + HCC130T COSM1602814 c.163T>G p.S55A Substitution - Missense 1:9356054-9356054 + CSCC-7-T COSM4507364 c.744C>T p.A248A Substitution - coding silent 1:9367497-9367497 + LS180 COSM2260523 c.364G>A p.A122T Substitution - Missense 1:9356255-9356255 + ZZUFHECRKL-G012T COSM5435334 c.284G>A p.R95H Substitution - Missense 1:9356175-9356175 + KM12 COSM1667124 c.326G>A p.R109Q Substitution - Missense 1:9356217-9356217 + TCGA-AP-A0LG-01 COSM913418 c.357G>A p.T119T Substitution - coding silent 1:9356248-9356248 + 3N36-VS-3T36 COSM4981131 c.307A>T p.T103S Substitution - Missense 1:9356198-9356198 + YULAPE COSM1686964 c.793T>C p.S265P Substitution - Missense 1:9367546-9367546 + TCGA-EE-A2GT-06 COSM3493438 c.694C>T p.P232S Substitution - Missense 1:9356585-9356585 + TCGA-DI-A0WH-01 COSM913419 c.642T>C p.S214S Substitution - coding silent 1:9356533-9356533 + TCGA-FW-A3R5-06 COSM3866254 c.203A>G p.K68R Substitution - Missense 1:9356094-9356094 + Au10 COSM5598824 c.223T>A p.F75I Substitution - Missense 1:9356114-9356114 + TCGA-AM-5821-01 COSM3747118 c.396C>T p.L132L Substitution - coding silent 1:9356287-9356287 + TCGA-06-0184 COSM2150490 c.271G>A p.V91I Substitution - Missense 1:9356162-9356162 + 2492702 COSM5600565 c.553G>A p.D185N Substitution - Missense 1:9356444-9356444 + S02285 COSM5684398 c.295G>C p.V99L Substitution - Missense 1:9356186-9356186 + 13 COSM5732734 c.283C>T p.R95C Substitution - Missense 1:9356174-9356174 + 2492700 COSM5600565 c.553G>A p.D185N Substitution - Missense 1:9356444-9356444 + PD4127a COSM164576 c.502G>C p.D168H Substitution - Missense 1:9356393-9356393 + TCGA-RP-A693-06 COSM4895377 c.363C>A p.D121E Substitution - Missense 1:9356254-9356254 + ESCC_143 COSM5643873 c.210C>T p.D70D Substitution - coding silent 1:9356101-9356101 + 2492701 COSM5600566 c.408C>T p.N136N Substitution - coding silent 1:9356299-9356299 + 2492702 COSM5600566 c.408C>T p.N136N Substitution - coding silent 1:9356299-9356299 + TCGA-EE-A29D-06 COSM3493434 c.78C>T p.L26L Substitution - coding silent 1:9355969-9355969 + TCGA-BS-A0UL-01 COSM913417 c.337G>A p.A113T Substitution - Missense 1:9356228-9356228 + LS174T COSM2260523 c.364G>A p.A122T Substitution - Missense 1:9356255-9356255 + TCGA-HU-A4GU-01 COSM4010678 c.436C>T p.R146C Substitution - Missense 1:9356327-9356327 + I2L-P10-Tumor-Organoid COSM5352671 c.690C>T p.L230L Substitution - coding silent 1:9356581-9356581 + T86 COSM4729737 c.241G>A p.A81T Substitution - Missense 1:9356132-9356132 + PDA_084 COSM5002633 c.160C>T p.H54Y Substitution - Missense 1:9356051-9356051 + TCGA-AD-6889-01 COSM1344945 c.365delC p.L124fs*56 Deletion - Frameshift 1:9356256-9356256 + CSCC-31-T COSM4492192 c.392C>T p.T131I Substitution - Missense 1:9356283-9356283 + 2492703 COSM5600566 c.408C>T p.N136N Substitution - coding silent 1:9356299-9356299 + TCGA-D1-A17Q-01 COSM913420 c.668G>A p.R223Q Substitution - Missense 1:9356559-9356559 + TCGA-EE-A2MR-06 COSM3493435 c.527C>T p.S176F Substitution - Missense 1:9356418-9356418 + SNUH_G76_S1 COSM4144259 c.201G>A p.V67V Substitution - coding silent 1:9356092-9356092 + OSCC-GB_01370111 COSM2260528 c.708G>A p.P236P Substitution - coding silent 1:9367461-9367461 + WA49 COSM241748 c.353C>T p.A118V Substitution - Missense 1:9356244-9356244 + TCGA-06-0184-01 COSM2150490 c.271G>A p.V91I Substitution - Missense 1:9356162-9356162 + ESCC_BICR_007T COSM2260523 c.364G>A p.A122T Substitution - Missense 1:9356255-9356255 + Au2 COSM5600565 c.553G>A p.D185N Substitution - Missense 1:9356444-9356444 + TCGA-D9-A6EC-06 COSM4400701 c.749G>A p.G250E Substitution - Missense 1:9367502-9367502 + TCGA-34-5928-01 COSM682670 c.164C>T p.S55L Substitution - Missense 1:9356055-9356055 + LUAD-74TBW COSM354905 c.513C>T p.F171F Substitution - coding silent 1:9356404-9356404 + TCGA-AO-A128-01 COSM3806140 c.207G>T p.E69D Substitution - Missense 1:9356098-9356098 + LP6005409-DNA_A01 COSM5952014 c.397G>A p.V133M Substitution - Missense 1:9356288-9356288 + 2492701 COSM5600565 c.553G>A p.D185N Substitution - Missense 1:9356444-9356444 + HCC130 COSM1602814 c.163T>G p.S55A Substitution - Missense 1:9356054-9356054 + Pat_11_A COSM5847502 c.181C>T p.R61* Substitution - Nonsense 1:9356072-9356072 + CN-AML-NR-08-Dx COSM4144259 c.201G>A p.V67V Substitution - coding silent 1:9356092-9356092 + TCGA-G4-6628-01 COSM1344958 c.762delG p.E256fs*>18 Deletion - Frameshift 1:9367515-9367515 + CHEWS032 COSM4577657 c.555C>T p.D185D Substitution - coding silent 1:9356446-9356446 + CLL135 COSM1290251 c.557G>A p.G186E Substitution - Missense 1:9356448-9356448 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.8257;Hs.8261 1p36.22 611657 2458214|CGAP|BC015711|A/G|non-coding||1319|Validated Hs.738572;Hs.738573;Hs.738574;Hs.738575;Hs.738576;Hs.738577;Hs.738578;Hs.738579;Hs.738580;Hs.738581;Hs.738582;Hs.738583;Hs.738584;Hs.738585;Hs.738586;Hs.738587;Hs.738588;Hs.738589;Hs.738590;Hs.738591;Hs.738592;Hs.738593;Hs.738594;Hs.738595;Hs.738596;Hs.738597;Hs.738598;Hs.738599;Hs.738600;Hs.738601;Hs.738602;Hs.738604;Hs.738605;Hs.738606;Hs.738607;Hs.738608;Hs.738609;Hs.738610;Hs.738611;Hs.738612;Hs.738613;Hs.738614;Hs.738615;Hs.738616;Hs.738617;Hs.738618;Hs.738619;Hs.738620;Hs.738621;Hs.738622;Hs.738623;Hs.738624;Hs.738625;Hs.738626;Hs.738627;Hs.738628;Hs.738629;Hs.738630;Hs.738631;Hs.738632;Hs.738633;Hs.738634;Hs.738635;Hs.738636;Hs.738638;Hs.738639;Hs.738640;Hs.738641;Hs.738642;Hs.738643;Hs.738644;Hs.738645;Hs.738646;Hs.738647;Hs.738649;Hs.738650;Hs.738651;Hs.738652;Hs.738653;Hs.738654;Hs.738655;Hs.738656;Hs.738657;Hs.738658;Hs.738659;Hs.738661;Hs.738662;Hs.738663;Hs.738664;Hs.738665;Hs.738666;Hs.738667;Hs.738668;Hs.738669;Hs.738670;Hs.738671;Hs.738672;Hs.738673;Hs.738674;Hs.738675;Hs.738676;Hs.738677;Hs.738678;Hs.738679;Hs.738680 1p36.22 611657 2458214|CGAP|BC015711|A/G|non-coding||1319|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.T18S c.52A>T 1 9416002 CM CC TT Missense p.P167L c.499_500delinsTT 1 9416449 CM - C Frameshift p.L124Pfs*13 c.370dupC 1 9416315 STAD C G 3-UTRSNV . c.819+772C>G 1 9428403 MB C T 5-UTRSNV . c.1-115C>T 1 9415836 CM C T Missense p.H125Y c.373C>T 1 9416323 CM C T Missense p.P232S c.694C>T 1 9416644 CM C T Missense p.P79S c.235C>T 1 9416185 CM C T Missense p.S55L c.164C>T 1 9416114 LUSC C T Synonymous p.L266L c.798C>T 1 9427610 CM G A Missense p.A113T c.337G>A 1 9416287 UCEC G A Missense p.E252K c.754G>A 1 9427566 HNSC G A Missense p.G186E c.557G>A 1 9416507 CLL G A Missense p.G8R c.22G>A 1 9415972 RCCC G A Missense p.V91I c.271G>A 1 9416221 GBM G A Synonymous p.L209L c.627G>A 1 9416577 RCCC G A Synonymous p.R77R c.231G>A 1 9416181 LUAD G A Synonymous p.T119T c.357G>A 1 9416307 UCEC G C Missense p.D168H c.502G>C 1 9416452 BRCA G C Synonymous p.A118A c.354G>C 1 9416304 LUAD G C Synonymous p.G250G c.750G>C 1 9427562 HNSC - G Frameshift p.D184Gfs*38 c.550dupG 1 9416499 LUAD G T Missense p.R148L c.443G>T 1 9416393 HNSC G T Missense p.R15S c.45G>T 1 9415995 LUAD G T Synonymous p.T84T c.252G>T 1 9416202 LUAD T C Missense p.F66S c.197T>C 1 9416147 RCCC T C Synonymous p.S214S c.642T>C 1 9416592 UCEC