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 1 154524587 154524587 + Silent SNP T T C TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:154524587T>C c.948A>G c.(946-948)ctA>ctG p.L316L BLCA 1 154525255 154525255 + Missense_Mutation SNP C C T TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr1:154525255C>T c.771G>A c.(769-771)atG>atA p.M257I BLCA 1 154525581 154525581 + Frame_Shift_Del DEL T T - TCGA-ZF-AA5P-01A-11D-A391-08 TCGA-ZF-AA5P-10A-01D-A394-08 g.chr1:154525581delT c.656delA c.(655-657)gatfs p.D220fs BLCA 1 154527951 154527951 + Nonsense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:154527951G>A c.490C>T c.(490-492)Cag>Tag p.Q164* BRCA 1 154524283 154524283 + Silent SNP G G A TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 g.chr1:154524283G>A c.1038C>T c.(1036-1038)ggC>ggT p.G346G BRCA 1 154524926 154524926 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:154524926C>T c.829G>A c.(829-831)Gaa>Aaa p.E277K BRCA 1 154525277 154525277 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr1:154525277A>C c.749T>G c.(748-750)gTg>gGg p.V250G BRCA 1 154525280 154525280 + Missense_Mutation SNP G G A TCGA-C8-A134-01A-11D-A10Y-09 TCGA-C8-A134-10A-01D-A110-09 g.chr1:154525280G>A c.746C>T c.(745-747)tCg>tTg p.S249L BRCA 1 154527994 154527994 + Silent SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr1:154527994C>G c.447G>C c.(445-447)ctG>ctC p.L149L BRCA 1 154528347 154528350 + Frame_Shift_Del DEL CTTT CTTT - TCGA-A2-A04X-01A-21W-A050-09 TCGA-A2-A04X-10A-01W-A055-09 g.chr1:154528347_154528350delCTTT c.418_421delAAAG c.(418-423)aaagggfs p.KG140fs BRCA 1 154528431 154528431 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr1:154528431G>T c.337C>A c.(337-339)Cct>Act p.P113T CESC 1 154523423 154523423 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:154523423C>T c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K CESC 1 154524250 154524250 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:154524250T>C c.1071A>G c.(1069-1071)aaA>aaG p.K357K CESC 1 154524884 154524884 + Missense_Mutation SNP G G T TCGA-Q1-A73R-01A-11D-A33O-09 TCGA-Q1-A73R-10B-01D-A33O-09 g.chr1:154524884G>T c.871C>A c.(871-873)Ctc>Atc p.L291I CESC 1 154525569 154525569 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr1:154525569C>T c.668G>A c.(667-669)gGa>gAa p.G223E CESC 1 154527963 154527963 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:154527963A>C c.478T>G c.(478-480)Tat>Gat p.Y160D CESC 1 154527964 154527964 + Silent SNP G G A TCGA-C5-A1BK-01B-11D-A13W-08 TCGA-C5-A1BK-10A-01D-A13W-08 g.chr1:154527964G>A c.477C>T c.(475-477)ctC>ctT p.L159L COAD 1 154523415 154523416 + Splice_Site INS - - T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr1:154523415_154523416insT c.1235_1236insA c.(1234-1236)aac>aaAc p.N412fs COAD 1 154524882 154524882 + Silent SNP G G A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:154524882G>A c.873C>T c.(871-873)ctC>ctT p.L291L COAD 1 154524926 154524926 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:154524926C>T c.829G>A c.(829-831)Gaa>Aaa p.E277K COAD 1 154524926 154524926 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:154524926C>T c.829G>A c.(829-831)Gaa>Aaa p.E277K COAD 1 154525511 154525511 + Missense_Mutation SNP T T G TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr1:154525511T>G c.726A>C c.(724-726)ttA>ttC p.L242F COAD 1 154525590 154525590 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:154525590T>G c.647A>C c.(646-648)aAa>aCa p.K216T COAD 1 154527221 154527221 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:154527221T>G c.578A>C c.(577-579)gAg>gCg p.E193A COAD 1 154530763 154530763 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:154530763C>T c.267G>A c.(265-267)ccG>ccA p.P89P COADREAD 1 154523415 154523416 + Splice_Site INS - - T TCGA-D5-5537-01A-21D-1924-10 TCGA-D5-5537-10A-01D-1924-10 g.chr1:154523415_154523416insT c.1235_1236insA c.(1234-1236)aac>aaAc p.N412fs COADREAD 1 154524882 154524882 + Silent SNP G G A TCGA-A6-5657-01A-01D-1650-10 TCGA-A6-5657-10A-01D-1650-10 g.chr1:154524882G>A c.873C>T c.(871-873)ctC>ctT p.L291L COADREAD 1 154524926 154524926 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:154524926C>T c.829G>A c.(829-831)Gaa>Aaa p.E277K COADREAD 1 154524926 154524926 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:154524926C>T c.829G>A c.(829-831)Gaa>Aaa p.E277K COADREAD 1 154525511 154525511 + Missense_Mutation SNP T T G TCGA-AA-3549-01A-02W-0831-10 TCGA-AA-3549-10A-01W-0831-10 g.chr1:154525511T>G c.726A>C c.(724-726)ttA>ttC p.L242F COADREAD 1 154525590 154525590 + Missense_Mutation SNP T T G TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:154525590T>G c.647A>C c.(646-648)aAa>aCa p.K216T COADREAD 1 154527221 154527221 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:154527221T>G c.578A>C c.(577-579)gAg>gCg p.E193A COADREAD 1 154530763 154530763 + Silent SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr1:154530763C>T c.267G>A c.(265-267)ccG>ccA p.P89P GBMLGG 1 154524631 154524631 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:154524631C>T c.904G>A c.(904-906)Gat>Aat p.D302N HNSC 1 154523418 154523418 + Silent SNP T T C TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr1:154523418T>C c.1233A>G c.(1231-1233)aaA>aaG p.K411K HNSC 1 154523963 154523963 + Missense_Mutation SNP C C G TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr1:154523963C>G c.1080G>C c.(1078-1080)tgG>tgC p.W360C HNSC 1 154524644 154524644 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr1:154524644G>A c.891C>T c.(889-891)agC>agT p.S297S HNSC 1 154525286 154525286 + Missense_Mutation SNP G G C TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 g.chr1:154525286G>C c.740C>G c.(739-741)tCt>tGt p.S247C HNSC 1 154527222 154527222 + Nonsense_Mutation SNP C C A TCGA-HD-A634-01A-11D-A28R-08 TCGA-HD-A634-10A-01D-A28U-08 g.chr1:154527222C>A c.577G>T c.(577-579)Gag>Tag p.E193* HNSC 1 154528425 154528425 + Missense_Mutation SNP C C G TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr1:154528425C>G c.343G>C c.(343-345)Gtg>Ctg p.V115L KIPAN 1 154522941 154522941 + Nonsense_Mutation SNP C C T TCGA-BP-4995-01A-01D-1462-08 TCGA-BP-4995-11A-01D-1462-08 g.chr1:154522941C>T c.1242G>A c.(1240-1242)tgG>tgA p.W414* KIPAN 1 154527220 154527220 + Missense_Mutation SNP C C A TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr1:154527220C>A c.579G>T c.(577-579)gaG>gaT p.E193D KIRC 1 154522941 154522941 + Nonsense_Mutation SNP C C T TCGA-BP-4995-01A-01D-1462-08 TCGA-BP-4995-11A-01D-1462-08 g.chr1:154522941C>T c.1242G>A c.(1240-1242)tgG>tgA p.W414* KIRC 1 154527220 154527220 + Missense_Mutation SNP C C A TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr1:154527220C>A c.579G>T c.(577-579)gaG>gaT p.E193D LGG 1 154524631 154524631 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:154524631C>T c.904G>A c.(904-906)Gat>Aat p.D302N LIHC 1 154524627 154524627 + Missense_Mutation SNP A A G TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr1:154524627A>G c.908T>C c.(907-909)cTc>cCc p.L303P LIHC 1 154527247 154527247 + Silent SNP G G A TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr1:154527247G>A c.552C>T c.(550-552)gaC>gaT p.D184D LIHC 1 154527970 154527970 + Missense_Mutation SNP A A C TCGA-DD-A11A-01A-11D-A12Z-10 TCGA-DD-A11A-10A-01D-A12Z-10 g.chr1:154527970A>C c.471T>G c.(469-471)tgT>tgG p.C157W LIHC 1 154527989 154527989 + Missense_Mutation SNP C C T TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr1:154527989C>T c.452G>A c.(451-453)aGg>aAg p.R151K LUAD 1 154524428 154524428 + Missense_Mutation SNP C C A TCGA-44-A47F-01A-11D-A24D-08 TCGA-44-A47F-10A-01D-A24F-08 g.chr1:154524428C>A c.994G>T c.(994-996)Gtc>Ttc p.V332F LUAD 1 154525295 154525295 + Splice_Site SNP C C T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr1:154525295C>T c.731G>A c.(730-732)gGt>gAt p.G244D LUAD 1 154530853 154530853 + Silent SNP G G A TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr1:154530853G>A c.177C>T c.(175-177)ttC>ttT p.F59F LUSC 1 154523919 154523920 + Missense_Mutation DNP GC GC CA TCGA-60-2725-01A-01D-1267-08 TCGA-60-2725-11A-01D-1267-08 g.chr1:154523919_154523920GC>CA c.1123_1124GC>TG c.(1123-1125)GCc>TGc p.A375C OV 1 154523967 154523967 + Splice_Site SNP C C T TCGA-20-1686-01A-01W-0633-09 TCGA-20-1686-10A-01W-0633-09 g.chr1:154523967C>T c.1076G>A c.(1075-1077)gGc>gAc p.G359D PAAD 1 154523416 154523416 + Frame_Shift_Del DEL T T - TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr1:154523416delT c.1235delA c.(1234-1236)aacfs p.N412fs PAAD 1 154523416 154523416 + Frame_Shift_Del DEL T T - TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr1:154523416delT c.1235delA c.(1234-1236)aacfs p.N412fs PAAD 1 154525225 154525225 + Missense_Mutation SNP C C G TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr1:154525225C>G c.801G>C c.(799-801)caG>caC p.Q267H SKCM 1 154524607 154524607 + Nonsense_Mutation SNP C C A TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr1:154524607C>A c.928G>T c.(928-930)Gaa>Taa p.E310*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 154516214 154516214 single base substitution A G downstream_gene_variant BRCA-EU 1 154516336 154516336 single base substitution C T downstream_gene_variant BRCA-EU 1 154517080 154517080 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 154517487 154517487 single base substitution T G downstream_gene_variant BRCA-EU 1 154517744 154517744 single base substitution A G downstream_gene_variant BRCA-EU 1 154518058 154518058 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 154518695 154518695 single base substitution A C downstream_gene_variant BRCA-EU 1 154519001 154519001 single base substitution C T downstream_gene_variant BRCA-EU 1 154521988 154521988 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 154521988 154521988 single base substitution G C downstream_gene_variant BRCA-EU 1 154522559 154522559 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 154522559 154522559 single base substitution G A downstream_gene_variant BRCA-EU 1 154523139 154523139 single base substitution T G downstream_gene_variant BRCA-EU 1 154523139 154523139 single base substitution T G intron_variant BRCA-EU 1 154523333 154523333 single base substitution G C downstream_gene_variant BRCA-EU 1 154523333 154523333 single base substitution G C intron_variant BRCA-EU 1 154523940 154523940 single base substitution G A downstream_gene_variant BRCA-EU 1 154523940 154523940 single base substitution G A exon_variant BRCA-EU 1 154523940 154523940 single base substitution G A missense_variant S368L 1103C>T BRCA-EU 1 154524053 154524053 single base substitution G A downstream_gene_variant BRCA-EU 1 154524053 154524053 single base substitution G A intron_variant BRCA-EU 1 154524092 154524092 single base substitution C G downstream_gene_variant BRCA-EU 1 154524092 154524092 single base substitution C G intron_variant BRCA-EU 1 154524458 154524458 insertion of <=200bp - GA downstream_gene_variant BRCA-EU 1 154524458 154524458 insertion of <=200bp - GA exon_variant BRCA-EU 1 154524458 154524458 insertion of <=200bp - GA intron_variant BRCA-EU 1 154524458 154524458 insertion of <=200bp - GA splice_region_variant BRCA-EU 1 154524458 154524458 insertion of <=200bp - GA upstream_gene_variant BRCA-EU 1 154524458 154524459 deletion of <=200bp GA - downstream_gene_variant BRCA-EU 1 154524458 154524459 deletion of <=200bp GA - exon_variant BRCA-EU 1 154524458 154524459 deletion of <=200bp GA - intron_variant BRCA-EU 1 154524458 154524459 deletion of <=200bp GA - splice_region_variant BRCA-EU 1 154524458 154524459 deletion of <=200bp GA - upstream_gene_variant BRCA-EU 1 154524462 154524462 single base substitution G C downstream_gene_variant BRCA-EU 1 154524462 154524462 single base substitution G C exon_variant BRCA-EU 1 154524462 154524462 single base substitution G C intron_variant BRCA-EU 1 154524462 154524462 single base substitution G C splice_region_variant BRCA-EU 1 154524462 154524462 single base substitution G C upstream_gene_variant BRCA-EU 1 154524617 154524617 single base substitution G C downstream_gene_variant BRCA-EU 1 154524617 154524617 single base substitution G C exon_variant BRCA-EU 1 154524617 154524617 single base substitution G C intron_variant BRCA-EU 1 154524617 154524617 single base substitution G C synonymous_variant L306L 918C>G BRCA-EU 1 154524617 154524617 single base substitution G C upstream_gene_variant BRCA-EU 1 154524770 154524770 single base substitution C G downstream_gene_variant BRCA-EU 1 154524770 154524770 single base substitution C G exon_variant BRCA-EU 1 154524770 154524770 single base substitution C G intron_variant BRCA-EU 1 154524770 154524770 single base substitution C G upstream_gene_variant BRCA-EU 1 154525180 154525180 single base substitution C G exon_variant BRCA-EU 1 154525180 154525180 single base substitution C G intron_variant BRCA-EU 1 154525180 154525180 single base substitution C G upstream_gene_variant BRCA-EU 1 154525439 154525439 single base substitution C T intron_variant BRCA-EU 1 154525439 154525439 single base substitution C T upstream_gene_variant BRCA-EU 1 154526216 154526216 single base substitution C A intron_variant BRCA-EU 1 154526216 154526216 single base substitution C A upstream_gene_variant BRCA-EU 1 154526482 154526482 single base substitution C T intron_variant BRCA-EU 1 154526482 154526482 single base substitution C T upstream_gene_variant BRCA-EU 1 154527548 154527548 single base substitution T G intron_variant BRCA-EU 1 154527548 154527548 single base substitution T G upstream_gene_variant BRCA-EU 1 154527832 154527832 single base substitution G A intron_variant BRCA-EU 1 154527832 154527832 single base substitution G A upstream_gene_variant BRCA-EU 1 154528074 154528074 single base substitution G A intron_variant BRCA-EU 1 154528074 154528074 single base substitution G A upstream_gene_variant BRCA-EU 1 154529885 154529885 single base substitution G A intron_variant BRCA-EU 1 154529885 154529885 single base substitution G A upstream_gene_variant BRCA-EU 1 154530929 154530929 insertion of <=200bp - C frameshift_variant G34G? BRCA-EU 1 154530929 154530929 insertion of <=200bp - C intron_variant BRCA-EU 1 154533806 154533806 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 154533835 154533835 single base substitution A T upstream_gene_variant BRCA-EU 1 154534265 154534265 single base substitution G C upstream_gene_variant BRCA-FR 1 154521988 154521988 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 154521988 154521988 single base substitution G C downstream_gene_variant BRCA-FR 1 154522559 154522559 single base substitution G A 3_prime_UTR_variant BRCA-FR 1 154522559 154522559 single base substitution G A downstream_gene_variant BRCA-FR 1 154523333 154523333 single base substitution G C downstream_gene_variant BRCA-FR 1 154523333 154523333 single base substitution G C intron_variant BRCA-FR 1 154523940 154523940 single base substitution G A downstream_gene_variant BRCA-FR 1 154523940 154523940 single base substitution G A exon_variant BRCA-FR 1 154523940 154523940 single base substitution G A missense_variant S368L 1103C>T BRCA-FR 1 154524617 154524617 single base substitution G C downstream_gene_variant BRCA-FR 1 154524617 154524617 single base substitution G C exon_variant BRCA-FR 1 154524617 154524617 single base substitution G C intron_variant BRCA-FR 1 154524617 154524617 single base substitution G C synonymous_variant L306L 918C>G BRCA-FR 1 154524617 154524617 single base substitution G C upstream_gene_variant BRCA-FR 1 154524770 154524770 single base substitution C G downstream_gene_variant BRCA-FR 1 154524770 154524770 single base substitution C G exon_variant BRCA-FR 1 154524770 154524770 single base substitution C G intron_variant BRCA-FR 1 154524770 154524770 single base substitution C G upstream_gene_variant BRCA-FR 1 154528074 154528074 single base substitution G A intron_variant BRCA-FR 1 154528074 154528074 single base substitution G A upstream_gene_variant BRCA-FR 1 154529885 154529885 single base substitution G A intron_variant BRCA-FR 1 154529885 154529885 single base substitution G A upstream_gene_variant BRCA-UK 1 154528074 154528074 single base substitution G A intron_variant BRCA-UK 1 154528074 154528074 single base substitution G A upstream_gene_variant BRCA-US 1 154516499 154516499 single base substitution C G downstream_gene_variant BRCA-US 1 154516584 154516584 single base substitution G A downstream_gene_variant BRCA-US 1 154516883 154516883 single base substitution C A downstream_gene_variant BRCA-US 1 154516982 154516982 single base substitution C T downstream_gene_variant BRCA-US 1 154524283 154524283 single base substitution G A downstream_gene_variant BRCA-US 1 154524283 154524283 single base substitution G A exon_variant BRCA-US 1 154524283 154524283 single base substitution G A intron_variant BRCA-US 1 154524283 154524283 single base substitution G A synonymous_variant G346G 1038C>T BRCA-US 1 154524283 154524283 single base substitution G A upstream_gene_variant BRCA-US 1 154524698 154524698 single base substitution A C downstream_gene_variant BRCA-US 1 154524698 154524698 single base substitution A C exon_variant BRCA-US 1 154524698 154524698 single base substitution A C intron_variant BRCA-US 1 154524698 154524698 single base substitution A C upstream_gene_variant BRCA-US 1 154524926 154524926 single base substitution C T exon_variant BRCA-US 1 154524926 154524926 single base substitution C T missense_variant E277K 829G>A BRCA-US 1 154524926 154524926 single base substitution C T upstream_gene_variant BRCA-US 1 154525277 154525277 single base substitution A C exon_variant BRCA-US 1 154525277 154525277 single base substitution A C missense_variant V250G 749T>G BRCA-US 1 154525277 154525277 single base substitution A C upstream_gene_variant BRCA-US 1 154525280 154525280 single base substitution G A exon_variant BRCA-US 1 154525280 154525280 single base substitution G A missense_variant S249L 746C>T BRCA-US 1 154525280 154525280 single base substitution G A upstream_gene_variant BRCA-US 1 154527994 154527994 single base substitution C G exon_variant BRCA-US 1 154527994 154527994 single base substitution C G synonymous_variant L149L 447G>C BRCA-US 1 154527994 154527994 single base substitution C G upstream_gene_variant BRCA-US 1 154528347 154528350 deletion of <=200bp CTTT - exon_variant BRCA-US 1 154528347 154528350 deletion of <=200bp CTTT - frameshift_variant KG140 BRCA-US 1 154528347 154528350 deletion of <=200bp CTTT - upstream_gene_variant BRCA-US 1 154528431 154528431 single base substitution G T exon_variant BRCA-US 1 154528431 154528431 single base substitution G T missense_variant P113T 337C>A BRCA-US 1 154528431 154528431 single base substitution G T upstream_gene_variant BTCA-JP 1 154516917 154516917 single base substitution G A downstream_gene_variant BTCA-JP 1 154516937 154516937 single base substitution C T downstream_gene_variant BTCA-JP 1 154523374 154523374 single base substitution G A downstream_gene_variant BTCA-JP 1 154523374 154523374 single base substitution G A intron_variant BTCA-JP 1 154525280 154525280 single base substitution G A exon_variant BTCA-JP 1 154525280 154525280 single base substitution G A missense_variant S249L 746C>T BTCA-JP 1 154525280 154525280 single base substitution G A upstream_gene_variant CESC-US 1 154516547 154516547 single base substitution C T downstream_gene_variant CESC-US 1 154516899 154516899 single base substitution G A downstream_gene_variant CESC-US 1 154516982 154516982 single base substitution C T downstream_gene_variant CESC-US 1 154520221 154520221 single base substitution G T downstream_gene_variant CESC-US 1 154523423 154523423 single base substitution C T downstream_gene_variant CESC-US 1 154523423 154523423 single base substitution C T exon_variant CESC-US 1 154523423 154523423 single base substitution C T missense_variant E410K 1228G>A CESC-US 1 154524250 154524250 single base substitution T C downstream_gene_variant CESC-US 1 154524250 154524250 single base substitution T C exon_variant CESC-US 1 154524250 154524250 single base substitution T C intron_variant CESC-US 1 154524250 154524250 single base substitution T C synonymous_variant K357K 1071A>G CESC-US 1 154524838 154524840 deletion of <=200bp CTC - downstream_gene_variant CESC-US 1 154524838 154524840 deletion of <=200bp CTC - exon_variant CESC-US 1 154524838 154524840 deletion of <=200bp CTC - intron_variant CESC-US 1 154524838 154524840 deletion of <=200bp CTC - upstream_gene_variant CESC-US 1 154524884 154524884 single base substitution G T exon_variant CESC-US 1 154524884 154524884 single base substitution G T missense_variant L291I 871C>A CESC-US 1 154524884 154524884 single base substitution G T upstream_gene_variant CESC-US 1 154525569 154525569 single base substitution C T exon_variant CESC-US 1 154525569 154525569 single base substitution C T missense_variant G223E 668G>A CESC-US 1 154525569 154525569 single base substitution C T upstream_gene_variant CESC-US 1 154527963 154527963 single base substitution A C exon_variant CESC-US 1 154527963 154527963 single base substitution A C missense_variant Y160D 478T>G CESC-US 1 154527963 154527963 single base substitution A C upstream_gene_variant CESC-US 1 154527964 154527964 single base substitution G A exon_variant CESC-US 1 154527964 154527964 single base substitution G A synonymous_variant L159L 477C>T CESC-US 1 154527964 154527964 single base substitution G A upstream_gene_variant CLLE-ES 1 154523621 154523621 single base substitution T C downstream_gene_variant CLLE-ES 1 154523621 154523621 single base substitution T C intron_variant CLLE-ES 1 154528361 154528361 single base substitution A C exon_variant CLLE-ES 1 154528361 154528361 single base substitution A C missense_variant V136G 407T>G CLLE-ES 1 154528361 154528361 single base substitution A C upstream_gene_variant COAD-US 1 154516508 154516508 single base substitution C T downstream_gene_variant COAD-US 1 154516937 154516937 single base substitution C T downstream_gene_variant COAD-US 1 154523415 154523415 insertion of <=200bp - T downstream_gene_variant COAD-US 1 154523415 154523415 insertion of <=200bp - T frameshift_variant N412N? COAD-US 1 154523415 154523415 insertion of <=200bp - T splice_region_variant COAD-US 1 154524882 154524882 single base substitution G A exon_variant COAD-US 1 154524882 154524882 single base substitution G A splice_region_variant COAD-US 1 154524882 154524882 single base substitution G A upstream_gene_variant COAD-US 1 154525590 154525590 single base substitution T G exon_variant COAD-US 1 154525590 154525590 single base substitution T G missense_variant K216T 647A>C COAD-US 1 154525590 154525590 single base substitution T G upstream_gene_variant COAD-US 1 154530722 154530722 single base substitution C T exon_variant COAD-US 1 154530722 154530722 single base substitution C T missense_variant R103H 308G>A COAD-US 1 154530763 154530763 single base substitution C T exon_variant COAD-US 1 154530763 154530763 single base substitution C T synonymous_variant P89P 267G>A COCA-CN 1 154516253 154516253 single base substitution G A downstream_gene_variant COCA-CN 1 154516513 154516513 single base substitution G A downstream_gene_variant COCA-CN 1 154516578 154516578 single base substitution G A downstream_gene_variant COCA-CN 1 154516865 154516865 single base substitution G A downstream_gene_variant COCA-CN 1 154520030 154520030 single base substitution C A downstream_gene_variant COCA-CN 1 154523384 154523384 single base substitution G A downstream_gene_variant COCA-CN 1 154523384 154523384 single base substitution G A intron_variant COCA-CN 1 154524126 154524126 single base substitution C A downstream_gene_variant COCA-CN 1 154524126 154524126 single base substitution C A intron_variant COCA-CN 1 154524350 154524350 single base substitution C T downstream_gene_variant COCA-CN 1 154524350 154524350 single base substitution C T intron_variant COCA-CN 1 154524350 154524350 single base substitution C T upstream_gene_variant COCA-CN 1 154524557 154524557 single base substitution G T downstream_gene_variant COCA-CN 1 154524557 154524557 single base substitution G T exon_variant COCA-CN 1 154524557 154524557 single base substitution G T intron_variant COCA-CN 1 154524557 154524557 single base substitution G T upstream_gene_variant COCA-CN 1 154525564 154525564 single base substitution C A exon_variant COCA-CN 1 154525564 154525564 single base substitution C A stop_gained E225* 673G>T COCA-CN 1 154525564 154525564 single base substitution C A upstream_gene_variant ESAD-UK 1 154516558 154516558 single base substitution C T downstream_gene_variant ESAD-UK 1 154522514 154522514 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 154522514 154522514 single base substitution C A downstream_gene_variant ESAD-UK 1 154523211 154523211 single base substitution G A downstream_gene_variant ESAD-UK 1 154523211 154523211 single base substitution G A intron_variant ESAD-UK 1 154523717 154523717 single base substitution T C downstream_gene_variant ESAD-UK 1 154523717 154523717 single base substitution T C exon_variant ESAD-UK 1 154523717 154523717 single base substitution T C intron_variant ESAD-UK 1 154525341 154525341 single base substitution A G intron_variant ESAD-UK 1 154525341 154525341 single base substitution A G upstream_gene_variant ESAD-UK 1 154525723 154525723 single base substitution C T intron_variant ESAD-UK 1 154525723 154525723 single base substitution C T upstream_gene_variant ESAD-UK 1 154526113 154526113 single base substitution C G intron_variant ESAD-UK 1 154526113 154526113 single base substitution C G upstream_gene_variant ESAD-UK 1 154529478 154529478 single base substitution T G intron_variant ESAD-UK 1 154529478 154529478 single base substitution T G upstream_gene_variant ESAD-UK 1 154531435 154531435 single base substitution G C exon_variant ESAD-UK 1 154531435 154531435 single base substitution G C upstream_gene_variant ESAD-UK 1 154531436 154531436 single base substitution A T exon_variant ESAD-UK 1 154531436 154531436 single base substitution A T upstream_gene_variant ESAD-UK 1 154531496 154531496 single base substitution C G exon_variant ESAD-UK 1 154531496 154531496 single base substitution C G upstream_gene_variant ESCA-CN 1 154519930 154519930 single base substitution A G downstream_gene_variant ESCA-CN 1 154523415 154523415 single base substitution G A downstream_gene_variant ESCA-CN 1 154523415 154523415 single base substitution G A splice_region_variant ESCA-CN 1 154525523 154525523 single base substitution C T exon_variant ESCA-CN 1 154525523 154525523 single base substitution C T synonymous_variant R238R 714G>A ESCA-CN 1 154525523 154525523 single base substitution C T upstream_gene_variant GBM-US 1 154516509 154516509 single base substitution G A downstream_gene_variant GBM-US 1 154516937 154516937 single base substitution C T downstream_gene_variant KIRC-US 1 154517301 154517301 single base substitution G T downstream_gene_variant KIRC-US 1 154522941 154522941 single base substitution C T downstream_gene_variant KIRC-US 1 154522941 154522941 single base substitution C T exon_variant KIRC-US 1 154522941 154522941 single base substitution C T stop_gained W414* 1242G>A KIRC-US 1 154527220 154527220 single base substitution C A exon_variant KIRC-US 1 154527220 154527220 single base substitution C A missense_variant E193D 579G>T KIRC-US 1 154527220 154527220 single base substitution C A upstream_gene_variant LAML-KR 1 154529351 154529351 single base substitution T C intron_variant LAML-KR 1 154529351 154529351 single base substitution T C upstream_gene_variant LGG-US 1 154516509 154516509 single base substitution G A downstream_gene_variant LICA-CN 1 154516489 154516489 single base substitution G T downstream_gene_variant LICA-CN 1 154516490 154516490 single base substitution G T downstream_gene_variant LICA-CN 1 154524424 154524424 single base substitution C A downstream_gene_variant LICA-CN 1 154524424 154524424 single base substitution C A exon_variant LICA-CN 1 154524424 154524424 single base substitution C A intron_variant LICA-CN 1 154524424 154524424 single base substitution C A missense_variant R333M 998G>T LICA-CN 1 154524424 154524424 single base substitution C A upstream_gene_variant LICA-FR 1 154516452 154516452 single base substitution G A downstream_gene_variant LICA-FR 1 154516525 154516525 single base substitution G A downstream_gene_variant LICA-FR 1 154517326 154517326 single base substitution G T downstream_gene_variant LICA-FR 1 154524278 154524278 single base substitution C A downstream_gene_variant LICA-FR 1 154524278 154524278 single base substitution C A exon_variant LICA-FR 1 154524278 154524278 single base substitution C A intron_variant LICA-FR 1 154524278 154524278 single base substitution C A missense_variant G348V 1043G>T LICA-FR 1 154524278 154524278 single base substitution C A upstream_gene_variant LIHC-US 1 154527970 154527970 single base substitution A C exon_variant LIHC-US 1 154527970 154527970 single base substitution A C missense_variant C157W 471T>G LIHC-US 1 154527970 154527970 single base substitution A C upstream_gene_variant LIHC-US 1 154527989 154527989 single base substitution C T exon_variant LIHC-US 1 154527989 154527989 single base substitution C T missense_variant R151K 452G>A LIHC-US 1 154527989 154527989 single base substitution C T upstream_gene_variant LINC-JP 1 154517019 154517019 single base substitution C G downstream_gene_variant LINC-JP 1 154524873 154524873 single base substitution C A exon_variant LINC-JP 1 154524873 154524873 single base substitution C A splice_region_variant LINC-JP 1 154524873 154524873 single base substitution C A upstream_gene_variant LINC-JP 1 154525739 154525739 single base substitution G A intron_variant LINC-JP 1 154525739 154525739 single base substitution G A upstream_gene_variant LINC-JP 1 154528087 154528087 single base substitution G A intron_variant LINC-JP 1 154528087 154528087 single base substitution G A upstream_gene_variant LIRI-JP 1 154518277 154518277 single base substitution C G downstream_gene_variant LIRI-JP 1 154519406 154519406 single base substitution A T downstream_gene_variant LIRI-JP 1 154521481 154521481 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 154521481 154521481 single base substitution C A downstream_gene_variant LIRI-JP 1 154523578 154523578 single base substitution C G downstream_gene_variant LIRI-JP 1 154523578 154523578 single base substitution C G intron_variant LIRI-JP 1 154525738 154525738 single base substitution C T intron_variant LIRI-JP 1 154525738 154525738 single base substitution C T upstream_gene_variant LIRI-JP 1 154525826 154525826 single base substitution A G intron_variant LIRI-JP 1 154525826 154525826 single base substitution A G upstream_gene_variant LIRI-JP 1 154526470 154526470 single base substitution A G intron_variant LIRI-JP 1 154526470 154526470 single base substitution A G upstream_gene_variant LIRI-JP 1 154526854 154526854 single base substitution T C intron_variant LIRI-JP 1 154526854 154526854 single base substitution T C upstream_gene_variant LIRI-JP 1 154527425 154527447 deletion of <=200bp AATGGCTTTGCTACCAGCCCATT - intron_variant LIRI-JP 1 154527425 154527447 deletion of <=200bp AATGGCTTTGCTACCAGCCCATT - upstream_gene_variant LIRI-JP 1 154527572 154527572 single base substitution T C intron_variant LIRI-JP 1 154527572 154527572 single base substitution T C upstream_gene_variant LIRI-JP 1 154527594 154527594 single base substitution A T intron_variant LIRI-JP 1 154527594 154527594 single base substitution A T upstream_gene_variant LIRI-JP 1 154533699 154533699 single base substitution C T upstream_gene_variant LIRI-JP 1 154534702 154534702 single base substitution C T upstream_gene_variant LIRI-JP 1 154535924 154535924 single base substitution A G upstream_gene_variant LUSC-KR 1 154518580 154518580 single base substitution T C downstream_gene_variant LUSC-KR 1 154526810 154526810 single base substitution G A intron_variant LUSC-KR 1 154526810 154526810 single base substitution G A upstream_gene_variant LUSC-KR 1 154530886 154530886 single base substitution G C intron_variant LUSC-KR 1 154530886 154530886 single base substitution G C synonymous_variant L48L 144C>G LUSC-KR 1 154531462 154531462 single base substitution C T exon_variant LUSC-KR 1 154531462 154531462 single base substitution C T upstream_gene_variant LUSC-KR 1 154534267 154534267 single base substitution A G upstream_gene_variant LUSC-US 1 154523919 154523919 single base substitution G C downstream_gene_variant LUSC-US 1 154523919 154523919 single base substitution G C exon_variant LUSC-US 1 154523919 154523919 single base substitution G C missense_variant A375G 1124C>G LUSC-US 1 154523920 154523920 single base substitution C A downstream_gene_variant LUSC-US 1 154523920 154523920 single base substitution C A exon_variant LUSC-US 1 154523920 154523920 single base substitution C A missense_variant A375S 1123G>T MALY-DE 1 154520842 154520842 single base substitution G T downstream_gene_variant MALY-DE 1 154525217 154525217 single base substitution T G exon_variant MALY-DE 1 154525217 154525217 single base substitution T G missense_variant K270T 809A>C MALY-DE 1 154525217 154525217 single base substitution T G upstream_gene_variant MALY-DE 1 154525693 154525693 single base substitution C T intron_variant MALY-DE 1 154525693 154525693 single base substitution C T upstream_gene_variant MALY-DE 1 154527648 154527648 single base substitution A G intron_variant MALY-DE 1 154527648 154527648 single base substitution A G upstream_gene_variant MALY-DE 1 154529385 154529385 insertion of <=200bp - T intron_variant MALY-DE 1 154529385 154529385 insertion of <=200bp - T upstream_gene_variant MELA-AU 1 154516120 154516120 single base substitution C A downstream_gene_variant MELA-AU 1 154516157 154516157 single base substitution G A downstream_gene_variant MELA-AU 1 154516236 154516236 single base substitution C T downstream_gene_variant MELA-AU 1 154516335 154516335 single base substitution C T downstream_gene_variant MELA-AU 1 154516337 154516337 single base substitution C T downstream_gene_variant MELA-AU 1 154516717 154516717 single base substitution C T downstream_gene_variant MELA-AU 1 154516790 154516790 single base substitution G A downstream_gene_variant MELA-AU 1 154516909 154516909 single base substitution C T downstream_gene_variant MELA-AU 1 154517139 154517139 single base substitution G A downstream_gene_variant MELA-AU 1 154517284 154517284 single base substitution G A downstream_gene_variant MELA-AU 1 154517417 154517417 single base substitution T G downstream_gene_variant MELA-AU 1 154517470 154517470 single base substitution G A downstream_gene_variant MELA-AU 1 154517489 154517489 single base substitution G A downstream_gene_variant MELA-AU 1 154518471 154518471 single base substitution G A downstream_gene_variant MELA-AU 1 154518783 154518783 single base substitution C T downstream_gene_variant MELA-AU 1 154519052 154519053 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 154519415 154519415 single base substitution G A downstream_gene_variant MELA-AU 1 154519537 154519537 single base substitution C T downstream_gene_variant MELA-AU 1 154519769 154519769 single base substitution G A downstream_gene_variant MELA-AU 1 154520911 154520911 single base substitution G A downstream_gene_variant MELA-AU 1 154521411 154521411 single base substitution G A 3_prime_UTR_variant MELA-AU 1 154521411 154521411 single base substitution G A downstream_gene_variant MELA-AU 1 154521926 154521926 single base substitution G A 3_prime_UTR_variant MELA-AU 1 154521926 154521926 single base substitution G A downstream_gene_variant MELA-AU 1 154521945 154521945 single base substitution C T 3_prime_UTR_variant MELA-AU 1 154521945 154521945 single base substitution C T downstream_gene_variant MELA-AU 1 154522822 154522822 single base substitution G A 3_prime_UTR_variant MELA-AU 1 154522822 154522822 single base substitution G A downstream_gene_variant MELA-AU 1 154522892 154522892 single base substitution G A 3_prime_UTR_variant MELA-AU 1 154522892 154522892 single base substitution G A downstream_gene_variant MELA-AU 1 154522892 154522892 single base substitution G A exon_variant MELA-AU 1 154522975 154522975 single base substitution G A downstream_gene_variant MELA-AU 1 154522975 154522975 single base substitution G A intron_variant MELA-AU 1 154523053 154523053 single base substitution G A downstream_gene_variant MELA-AU 1 154523053 154523053 single base substitution G A intron_variant MELA-AU 1 154524552 154524552 single base substitution G A downstream_gene_variant MELA-AU 1 154524552 154524552 single base substitution G A exon_variant MELA-AU 1 154524552 154524552 single base substitution G A intron_variant MELA-AU 1 154524552 154524552 single base substitution G A upstream_gene_variant MELA-AU 1 154524576 154524576 single base substitution G A downstream_gene_variant MELA-AU 1 154524576 154524576 single base substitution G A exon_variant MELA-AU 1 154524576 154524576 single base substitution G A intron_variant MELA-AU 1 154524576 154524576 single base substitution G A missense_variant S320F 959C>T MELA-AU 1 154524576 154524576 single base substitution G A upstream_gene_variant MELA-AU 1 154525393 154525393 single base substitution G A intron_variant MELA-AU 1 154525393 154525393 single base substitution G A upstream_gene_variant MELA-AU 1 154526183 154526183 single base substitution G A intron_variant MELA-AU 1 154526183 154526183 single base substitution G A upstream_gene_variant MELA-AU 1 154526850 154526850 single base substitution A G intron_variant MELA-AU 1 154526850 154526850 single base substitution A G upstream_gene_variant MELA-AU 1 154527068 154527068 single base substitution G A intron_variant MELA-AU 1 154527068 154527068 single base substitution G A upstream_gene_variant MELA-AU 1 154527879 154527879 single base substitution G A intron_variant MELA-AU 1 154527879 154527879 single base substitution G A upstream_gene_variant MELA-AU 1 154527930 154527930 single base substitution G A exon_variant MELA-AU 1 154527930 154527930 single base substitution G A synonymous_variant L171L 511C>T MELA-AU 1 154527930 154527930 single base substitution G A upstream_gene_variant MELA-AU 1 154528156 154528156 single base substitution G A intron_variant MELA-AU 1 154528156 154528156 single base substitution G A upstream_gene_variant MELA-AU 1 154528213 154528213 single base substitution G T intron_variant MELA-AU 1 154528213 154528213 single base substitution G T upstream_gene_variant MELA-AU 1 154529255 154529255 single base substitution G A intron_variant MELA-AU 1 154529255 154529255 single base substitution G A upstream_gene_variant MELA-AU 1 154530372 154530372 single base substitution G A intron_variant MELA-AU 1 154530372 154530372 single base substitution G A upstream_gene_variant MELA-AU 1 154531295 154531295 single base substitution C T intron_variant MELA-AU 1 154531295 154531295 single base substitution C T upstream_gene_variant MELA-AU 1 154531305 154531305 single base substitution C T intron_variant MELA-AU 1 154531305 154531305 single base substitution C T upstream_gene_variant MELA-AU 1 154531314 154531314 single base substitution C T intron_variant MELA-AU 1 154531314 154531314 single base substitution C T upstream_gene_variant MELA-AU 1 154531326 154531326 single base substitution C T intron_variant MELA-AU 1 154531326 154531326 single base substitution C T upstream_gene_variant MELA-AU 1 154531456 154531456 single base substitution C T exon_variant MELA-AU 1 154531456 154531456 single base substitution C T upstream_gene_variant MELA-AU 1 154531458 154531458 single base substitution C T exon_variant MELA-AU 1 154531458 154531458 single base substitution C T upstream_gene_variant MELA-AU 1 154532009 154532009 single base substitution G A upstream_gene_variant MELA-AU 1 154532476 154532482 deletion of <=200bp CAGTTTG - upstream_gene_variant MELA-AU 1 154533053 154533053 single base substitution C T upstream_gene_variant MELA-AU 1 154533133 154533133 single base substitution A G upstream_gene_variant MELA-AU 1 154533431 154533431 single base substitution T G upstream_gene_variant MELA-AU 1 154533465 154533466 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 154533887 154533887 single base substitution C T upstream_gene_variant MELA-AU 1 154533927 154533928 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 154534022 154534022 single base substitution G A upstream_gene_variant MELA-AU 1 154534214 154534214 single base substitution C A upstream_gene_variant MELA-AU 1 154534652 154534652 single base substitution G A upstream_gene_variant MELA-AU 1 154535073 154535073 single base substitution G A upstream_gene_variant MELA-AU 1 154535728 154535728 single base substitution C T upstream_gene_variant MELA-AU 1 154536204 154536204 single base substitution T A upstream_gene_variant OV-AU 1 154516261 154516261 single base substitution G A downstream_gene_variant OV-AU 1 154516437 154516437 single base substitution A C downstream_gene_variant OV-AU 1 154519256 154519256 single base substitution T G downstream_gene_variant OV-AU 1 154525816 154525816 single base substitution T G intron_variant OV-AU 1 154525816 154525816 single base substitution T G upstream_gene_variant OV-AU 1 154528235 154528235 single base substitution T C intron_variant OV-AU 1 154528235 154528235 single base substitution T C upstream_gene_variant OV-AU 1 154529507 154529507 single base substitution T G intron_variant OV-AU 1 154529507 154529507 single base substitution T G upstream_gene_variant OV-AU 1 154531860 154531860 single base substitution C T upstream_gene_variant PACA-AU 1 154517374 154517374 single base substitution G A downstream_gene_variant PACA-AU 1 154520405 154520405 single base substitution C T downstream_gene_variant PACA-AU 1 154521025 154521025 single base substitution T C downstream_gene_variant PACA-AU 1 154522601 154522601 deletion of <=200bp G - 3_prime_UTR_variant PACA-AU 1 154522601 154522601 deletion of <=200bp G - downstream_gene_variant PACA-AU 1 154523155 154523155 single base substitution T C downstream_gene_variant PACA-AU 1 154523155 154523155 single base substitution T C intron_variant PACA-AU 1 154523452 154523452 single base substitution T C downstream_gene_variant PACA-AU 1 154523452 154523452 single base substitution T C exon_variant PACA-AU 1 154523452 154523452 single base substitution T C missense_variant Q400R 1199A>G PACA-AU 1 154526601 154526601 single base substitution C T intron_variant PACA-AU 1 154526601 154526601 single base substitution C T upstream_gene_variant PACA-AU 1 154528951 154528951 single base substitution A G intron_variant PACA-AU 1 154528951 154528951 single base substitution A G upstream_gene_variant PACA-AU 1 154532831 154532831 single base substitution G A upstream_gene_variant PACA-AU 1 154535297 154535297 single base substitution C A upstream_gene_variant PACA-AU 1 154535865 154535865 single base substitution G A upstream_gene_variant PACA-CA 1 154516434 154516434 single base substitution C T downstream_gene_variant PACA-CA 1 154516929 154516929 single base substitution G A downstream_gene_variant PACA-CA 1 154517080 154517080 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 154518867 154518867 single base substitution A T downstream_gene_variant PACA-CA 1 154520108 154520108 insertion of <=200bp - C downstream_gene_variant PACA-CA 1 154522104 154522104 single base substitution G A 3_prime_UTR_variant PACA-CA 1 154522104 154522104 single base substitution G A downstream_gene_variant PACA-CA 1 154522723 154522723 single base substitution T G 3_prime_UTR_variant PACA-CA 1 154522723 154522723 single base substitution T G downstream_gene_variant PACA-CA 1 154524969 154524969 single base substitution T C exon_variant PACA-CA 1 154524969 154524969 single base substitution T C intron_variant PACA-CA 1 154524969 154524969 single base substitution T C upstream_gene_variant PACA-CA 1 154528657 154528657 single base substitution G A intron_variant PACA-CA 1 154528657 154528657 single base substitution G A upstream_gene_variant PACA-CA 1 154533278 154533278 single base substitution G C upstream_gene_variant PACA-CA 1 154533889 154533889 single base substitution T A upstream_gene_variant PACA-CA 1 154534215 154534215 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 154535213 154535213 single base substitution C G upstream_gene_variant PACA-CA 1 154535563 154535563 single base substitution C T upstream_gene_variant PACA-CA 1 154535952 154535952 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 154536092 154536092 single base substitution G A upstream_gene_variant PACA-CA 1 154536369 154536369 single base substitution G T upstream_gene_variant PBCA-DE 1 154519436 154519436 single base substitution G T downstream_gene_variant PBCA-DE 1 154535951 154535951 single base substitution C A upstream_gene_variant PBCA-DE 1 154536241 154536241 insertion of <=200bp - T upstream_gene_variant PRAD-UK 1 154535493 154535493 single base substitution T C upstream_gene_variant READ-US 1 154524598 154524598 single base substitution C T downstream_gene_variant READ-US 1 154524598 154524598 single base substitution C T exon_variant READ-US 1 154524598 154524598 single base substitution C T intron_variant READ-US 1 154524598 154524598 single base substitution C T missense_variant D313N 937G>A READ-US 1 154524598 154524598 single base substitution C T upstream_gene_variant RECA-EU 1 154529181 154529181 single base substitution C T intron_variant RECA-EU 1 154529181 154529181 single base substitution C T upstream_gene_variant SKCA-BR 1 154516664 154516664 single base substitution C T downstream_gene_variant SKCA-BR 1 154517139 154517139 single base substitution G A downstream_gene_variant SKCA-BR 1 154517261 154517261 single base substitution C T downstream_gene_variant SKCA-BR 1 154517377 154517377 single base substitution G A downstream_gene_variant SKCA-BR 1 154518281 154518281 single base substitution C T downstream_gene_variant SKCA-BR 1 154519233 154519233 single base substitution G A downstream_gene_variant SKCA-BR 1 154523792 154523792 single base substitution G A downstream_gene_variant SKCA-BR 1 154523792 154523792 single base substitution G A exon_variant SKCA-BR 1 154523792 154523792 single base substitution G A intron_variant SKCA-BR 1 154528551 154528551 single base substitution A C intron_variant SKCA-BR 1 154528551 154528551 single base substitution A C upstream_gene_variant SKCA-BR 1 154528557 154528557 single base substitution T C intron_variant SKCA-BR 1 154528557 154528557 single base substitution T C upstream_gene_variant SKCA-BR 1 154531272 154531272 single base substitution C T intron_variant SKCA-BR 1 154531272 154531272 single base substitution C T upstream_gene_variant SKCA-BR 1 154533596 154533596 single base substitution T A upstream_gene_variant SKCA-BR 1 154536401 154536401 single base substitution A T upstream_gene_variant SKCM-US 1 154516511 154516511 single base substitution C T downstream_gene_variant SKCM-US 1 154516517 154516517 single base substitution G A downstream_gene_variant SKCM-US 1 154516521 154516521 single base substitution G C downstream_gene_variant SKCM-US 1 154516548 154516548 single base substitution C T downstream_gene_variant SKCM-US 1 154516556 154516556 single base substitution C T downstream_gene_variant SKCM-US 1 154516910 154516910 single base substitution C T downstream_gene_variant SKCM-US 1 154517326 154517326 single base substitution G A downstream_gene_variant SKCM-US 1 154519928 154519928 single base substitution G A downstream_gene_variant SKCM-US 1 154524607 154524607 single base substitution C A downstream_gene_variant SKCM-US 1 154524607 154524607 single base substitution C A exon_variant SKCM-US 1 154524607 154524607 single base substitution C A intron_variant SKCM-US 1 154524607 154524607 single base substitution C A stop_gained E310* 928G>T SKCM-US 1 154524607 154524607 single base substitution C A upstream_gene_variant STAD-US 1 154516454 154516454 single base substitution G A downstream_gene_variant STAD-US 1 154516513 154516513 single base substitution G T downstream_gene_variant STAD-US 1 154516536 154516536 single base substitution A G downstream_gene_variant STAD-US 1 154517360 154517360 single base substitution G A downstream_gene_variant STAD-US 1 154517377 154517377 single base substitution G A downstream_gene_variant STAD-US 1 154523896 154523896 single base substitution G A downstream_gene_variant STAD-US 1 154523896 154523896 single base substitution G A exon_variant STAD-US 1 154523896 154523896 single base substitution G A stop_gained R383* 1147C>T STAD-US 1 154524458 154524458 insertion of <=200bp - GA downstream_gene_variant STAD-US 1 154524458 154524458 insertion of <=200bp - GA exon_variant STAD-US 1 154524458 154524458 insertion of <=200bp - GA intron_variant STAD-US 1 154524458 154524458 insertion of <=200bp - GA splice_region_variant STAD-US 1 154524458 154524458 insertion of <=200bp - GA upstream_gene_variant STAD-US 1 154524458 154524459 deletion of <=200bp GA - downstream_gene_variant STAD-US 1 154524458 154524459 deletion of <=200bp GA - exon_variant STAD-US 1 154524458 154524459 deletion of <=200bp GA - intron_variant STAD-US 1 154524458 154524459 deletion of <=200bp GA - splice_region_variant STAD-US 1 154524458 154524459 deletion of <=200bp GA - upstream_gene_variant STAD-US 1 154524643 154524643 single base substitution C T downstream_gene_variant STAD-US 1 154524643 154524643 single base substitution C T exon_variant STAD-US 1 154524643 154524643 single base substitution C T intron_variant STAD-US 1 154524643 154524643 single base substitution C T missense_variant A298T 892G>A STAD-US 1 154524643 154524643 single base substitution C T upstream_gene_variant STAD-US 1 154525264 154525264 single base substitution G A exon_variant STAD-US 1 154525264 154525264 single base substitution G A synonymous_variant D254D 762C>T STAD-US 1 154525264 154525264 single base substitution G A upstream_gene_variant STAD-US 1 154528413 154528413 single base substitution A T exon_variant STAD-US 1 154528413 154528413 single base substitution A T missense_variant W119R 355T>A STAD-US 1 154528413 154528413 single base substitution A T upstream_gene_variant THCA-SA 1 154516477 154516477 single base substitution G A downstream_gene_variant UCEC-US 1 154516526 154516526 single base substitution G A downstream_gene_variant UCEC-US 1 154516586 154516586 single base substitution G A downstream_gene_variant UCEC-US 1 154517320 154517320 single base substitution G T downstream_gene_variant UCEC-US 1 154517359 154517359 single base substitution C T downstream_gene_variant UCEC-US 1 154523450 154523450 single base substitution A G downstream_gene_variant UCEC-US 1 154523450 154523450 single base substitution A G exon_variant UCEC-US 1 154523450 154523450 single base substitution A G missense_variant S401P 1201T>C UCEC-US 1 154523956 154523956 single base substitution C T downstream_gene_variant UCEC-US 1 154523956 154523956 single base substitution C T exon_variant UCEC-US 1 154523956 154523956 single base substitution C T missense_variant A363T 1087G>A UCEC-US 1 154524423 154524423 single base substitution C A downstream_gene_variant UCEC-US 1 154524423 154524423 single base substitution C A exon_variant UCEC-US 1 154524423 154524423 single base substitution C A intron_variant UCEC-US 1 154524423 154524423 single base substitution C A missense_variant R333S 999G>T UCEC-US 1 154524423 154524423 single base substitution C A upstream_gene_variant UCEC-US 1 154524926 154524926 single base substitution C T exon_variant UCEC-US 1 154524926 154524926 single base substitution C T missense_variant E277K 829G>A UCEC-US 1 154524926 154524926 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD11349a COSM1720894 c.967-4_967-3delTC p.? Unknown 1:154551982-154551983 - TCGA-60-2725-01 COSM675858 c.1124C>G p.A375G Substitution - Missense 1:154551443-154551443 - ESCC_BICR_007T COSM5434039 c.714G>A p.R238R Substitution - coding silent 1:154553047-154553047 - TCGA-EI-6917-01 COSM3418105 c.937G>A p.D313N Substitution - Missense 1:154552122-154552122 - TCGA-BR-4184-01 COSM4022820 c.1147C>T p.R383* Substitution - Nonsense 1:154551420-154551420 - TCGA-60-2725-01 COSM675856 c.1123G>T p.A375S Substitution - Missense 1:154551444-154551444 - TCGA-BP-4995-01 COSM463058 c.1242G>A p.W414* Substitution - Nonsense 1:154550465-154550465 - TCGA-AA-A010-01 COSM286235 c.578A>C p.E193A Substitution - Missense 1:154554745-154554745 - PD11349a COSM5782931 c.967-7C>G p.? Unknown 1:154551986-154551986 - 2734_T COSM206573 c.829G>A p.E277K Substitution - Missense 1:154552450-154552450 - TCGA-AN-A046-01 COSM206573 c.829G>A p.E277K Substitution - Missense 1:154552450-154552450 - TCGA-DA-A1I4-06 COSM3474703 c.928G>T p.E310* Substitution - Nonsense 1:154552131-154552131 - TCGA-CG-5721-01 COSM4022822 c.762C>T p.D254D Substitution - coding silent 1:154552788-154552788 - TCGA-A2-A04X-01 COSM423999 c.418_421delAAAG p.K140fs*9 Deletion - Frameshift 1:154555871-154555874 - TCGA-C5-A1BK-01 COSM4826208 c.477C>T p.L159L Substitution - coding silent 1:154555488-154555488 - TCGA-AA-3510-01 COSM1334449 c.647A>C p.K216T Substitution - Missense 1:154553114-154553114 - ESCC-D7 COSM5046363 c.764G>A p.R255Q Substitution - Missense 1:154552786-154552786 - HCC89T COSM1600876 c.875+7G>T p.? Unknown 1:154552397-154552397 - LUAD-B00859 COSM332343 c.320A>G p.N107S Substitution - Missense 1:154558234-154558234 - TCGA-A2-A0T5-01 COSM3802032 c.749T>G p.V250G Substitution - Missense 1:154552801-154552801 - ACC-1 COSM4967524 c.655G>A p.D219N Substitution - Missense 1:154553106-154553106 - TCGA-AM-5820-01 COSM211535 c.1235_1236insA p.N412fs*>12 Insertion - Frameshift 1:154550939-154550940 - CHC2052T COSM4790123 c.1043G>T p.G348V Substitution - Missense 1:154551802-154551802 - TCGA-C8-A26Y-01 COSM3802033 c.447G>C p.L149L Substitution - coding silent 1:154555518-154555518 - 47 COSM5010616 c.1225C>A p.H409N Substitution - Missense 1:154550950-154550950 - BD236T COSM423998 c.746C>T p.S249L Substitution - Missense 1:154552804-154552804 - PD11349a COSM5782956 c.1103C>T p.S368L Substitution - Missense 1:154551464-154551464 - TCGA-OL-A5D6-01 COSM3802031 c.1038C>T p.G346G Substitution - coding silent 1:154551807-154551807 - 35M COSM5582978 c.1110C>T p.I370I Substitution - coding silent 1:154551457-154551457 - TCGA-CG-5721-01 COSM4022821 c.892G>A p.A298T Substitution - Missense 1:154552167-154552167 - TCGA-ED-A7PZ-01 COSM4916834 c.452G>A p.R151K Substitution - Missense 1:154555513-154555513 - TCGA-D5-5537-01 COSM211535 c.1235_1236insA p.N412fs*>12 Insertion - Frameshift 1:154550939-154550940 - TCGA-FU-A3HZ-01 COSM4841139 c.1071A>G p.K357K Substitution - coding silent 1:154551774-154551774 - STC291 COSM5052600 c.1235delA p.N412fs*>11 Deletion - Frameshift 1:154550940-154550940 - 587278 COSM1231553 c.517C>T p.Q173* Substitution - Nonsense 1:154555448-154555448 - S02294 COSM5688641 c.284G>T p.G95V Substitution - Missense 1:154558270-154558270 - TCGA-EK-A3GK-01 COSM4852699 c.668G>A p.G223E Substitution - Missense 1:154553093-154553093 - Pat_60_A COSM5843799 c.438G>T p.L146F Substitution - Missense 1:154555527-154555527 - TCGA-C8-A134-01 COSM423998 c.746C>T p.S249L Substitution - Missense 1:154552804-154552804 - Pat_41_B COSM5843798 c.977C>T p.P326L Substitution - Missense 1:154551969-154551969 - DN11226 COSM5782956 c.1103C>T p.S368L Substitution - Missense 1:154551464-154551464 - TCGA-AA-3492-01 COSM1334450 c.267G>A p.P89P Substitution - coding silent 1:154558287-154558287 - 1_RESISTANT COSM1720894 c.967-4_967-3delTC p.? Unknown 1:154551982-154551983 - 786-0 COSM1683791 c.414delA p.K139fs*11 Deletion - Frameshift 1:154555878-154555878 - TCGA-AA-3549-01 COSM292209 c.726A>C p.L242F Substitution - Missense 1:154553035-154553035 - TCGA-A5-A0GI-01 COSM896625 c.999G>T p.R333S Substitution - Missense 1:154551947-154551947 - TCGA-Q1-A73R-01 COSM4856115 c.871C>A p.L291I Substitution - Missense 1:154552408-154552408 - MDS-12 COSM211045 c.1235_1236insT p.G413fs*>11 Insertion - Frameshift 1:154550939-154550940 - TCGA-B0-5709-01 COSM463059 c.579G>T p.E193D Substitution - Missense 1:154554744-154554744 - YULOCUS COSM5377787 c.422G>A p.G141E Substitution - Missense 1:154555870-154555870 - TCGA-D8-A1XK-01 COSM3802034 c.337C>A p.P113T Substitution - Missense 1:154555955-154555955 - HCC89 COSM1600876 c.875+7G>T p.? Unknown 1:154552397-154552397 - T2269 COSM206573 c.829G>A p.E277K Substitution - Missense 1:154552450-154552450 - RW2982 COSM4649466 c.466C>A p.L156M Substitution - Missense 1:154555499-154555499 - C467 COSM4441863 c.547G>T p.E183* Substitution - Nonsense 1:154554776-154554776 - DN11226 COSM5782947 c.918C>G p.L306L Substitution - coding silent 1:154552141-154552141 - sysucc-311T COSM5477631 c.673G>T p.E225* Substitution - Nonsense 1:154553088-154553088 - TCGA-EK-A3GK-01 COSM4853648 c.1228G>A p.E410K Substitution - Missense 1:154550947-154550947 - MDS-12 COSM211535 c.1235_1236insA p.N412fs*>12 Insertion - Frameshift 1:154550939-154550940 - TCGA-AP-A059-01 COSM206573 c.829G>A p.E277K Substitution - Missense 1:154552450-154552450 - PTC-14C COSM4142763 c.1263C>A p.D421E Substitution - Missense 1:154550444-154550444 - 8804_PT COSM5754215 c.704A>G p.K235R Substitution - Missense 1:154553057-154553057 - HCC019T COSM5820222 c.998G>T p.R333M Substitution - Missense 1:154551948-154551948 - 101 COSM5014153 c.664A>G p.I222V Substitution - Missense 1:154553097-154553097 - ESCC-233T COSM3934110 c.1236C>T p.N412N Substitution - coding silent 1:154550939-154550939 - PD11349a COSM5782947 c.918C>G p.L306L Substitution - coding silent 1:154552141-154552141 - 172-01-1TD COSM146071 c.407T>G p.V136G Substitution - Missense 1:154555885-154555885 - HN_62854 COSM130038 c.618G>A p.M206I Substitution - Missense 1:154553143-154553143 - 90 COSM5014154 c.394T>G p.L132V Substitution - Missense 1:154555898-154555898 - ESO-1163 COSM1269632 c.552C>T p.D184D Substitution - coding silent 1:154554771-154554771 - 1_PRE-TREATMENT COSM1720894 c.967-4_967-3delTC p.? Unknown 1:154551982-154551983 - TCGA-FU-A3HZ-01 COSM4839036 c.478T>G p.Y160D Substitution - Missense 1:154555487-154555487 - YUKLAB COSM1688678 c.1267T>C p.*423Q Nonstop extension 1:154550440-154550440 - TCGA-AP-A051-01 COSM896623 c.1201T>C p.S401P Substitution - Missense 1:154550974-154550974 - CHC2052T COSM4790123 c.1043G>T p.G348V Substitution - Missense 1:154551802-154551802 - T469 COSM4738707 c.630G>A p.E210E Substitution - coding silent 1:154553131-154553131 - BK0002 COSM4189155 c.619_620insTATG p.K207fs*2 Insertion - Frameshift 1:154553141-154553142 - TCGA-DD-A11A-01 COSM4940404 c.471T>G p.C157W Substitution - Missense 1:154555494-154555494 - Gp5D COSM2209177 c.324C>T p.I108I Substitution - coding silent 1:154558230-154558230 - TCGA-20-1686-01 COSM1319925 c.1076G>A p.G359D Substitution - Missense 1:154551491-154551491 - TCGA-CG-4438-01 COSM4022823 c.355T>A p.W119R Substitution - Missense 1:154555937-154555937 - 8013912 COSM1157728 c.1199A>G p.Q400R Substitution - Missense 1:154550976-154550976 - 587278 COSM1231554 c.391G>A p.V131I Substitution - Missense 1:154555901-154555901 - ICGC_0004 COSM1157728 c.1199A>G p.Q400R Substitution - Missense 1:154550976-154550976 - TCGA-B5-A0K9-01 COSM896624 c.1087G>A p.A363T Substitution - Missense 1:154551480-154551480 - SNU-175 COSM2209173 c.553G>A p.V185M Substitution - Missense 1:154554770-154554770 - 2521259 COSM5889625 c.307C>T p.R103C Substitution - Missense 1:154558247-154558247 - TCGA-G4-6628-01 COSM3689029 c.308G>A p.R103H Substitution - Missense 1:154558246-154558246 - 172 COSM146071 c.407T>G p.V136G Substitution - Missense 1:154555885-154555885 - TCGA-A6-5657-01 COSM1334448 c.873C>T p.L291L Substitution - coding silent 1:154552406-154552406 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.607890;Hs.607891;Hs.607893;Hs.607894;Hs.607895;Hs.607896;Hs.607898;Hs.607899;Hs.607901;Hs.607902;Hs.607903;Hs.607906;Hs.607907;Hs.607908;Hs.607909;Hs.607910;Hs.607911;Hs.607912;Hs.607914;Hs.607915;Hs.607917;Hs.607920;Hs.607921;Hs.607923;Hs.607924;Hs.607925;Hs.607927;Hs.607928 1q21.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.W119R c.355T>A 1 154528413 STAD C A Missense p.A375S c.1123G>T 1 154523920 LUSC C A Missense p.E193D c.579G>T 1 154527220 RCCC C A Missense p.R333S c.999G>T 1 154524423 UCEC C A Nonsense p.E310* c.928G>T 1 154524607 CM C G Missense p.V115L c.343G>C 1 154528425 HNSC C G Missense p.W360C c.1080G>C 1 154523963 HNSC C T Missense p.A363T c.1087G>A 1 154523956 UCEC C T Missense p.M206I c.618G>A 1 154525619 HNSC C T Nonsense p.W414* c.1242G>A 1 154522941 RCCC CTTT - Frameshift p.K140Gfs*9 c.418_421delAAAG 1 154528347 BRCA G A IntronicSNV . c.876-89C>T 1 154524748 CM G A Missense p.S249L c.746C>T 1 154525280 BRCA G A Synonymous p.D125D c.375C>T 1 154528393 CM G A Synonymous p.F59F c.177C>T 1 154530853 LUAD G A Synonymous p.L278L c.834C>T 1 154524921 BRCA G A Synonymous p.S297S c.891C>T 1 154524644 HNSC G C Missense p.A375G c.1124C>G 1 154523919 LUSC G C Missense p.S247C c.740C>G 1 154525286 HNSC G T 3-UTRSNV . c.1266+101C>A 1 154522816 ESCA TATGTCC - Frameshift p.D137Rfs*11 c.408_414delGGACATA 1 154528354 HNSC T C Synonymous p.K411K c.1233A>G 1 154523418 HNSC T G Missense p.L242F c.726A>C 1 154525511 COREAD