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 2 242644111 242644111 + Silent SNP G G T TCGA-GU-A766-01A-11D-A32B-08 TCGA-GU-A766-10A-01D-A329-08 g.chr2:242644111G>T c.81G>T c.(79-81)ctG>ctT p.L27L BLCA 2 242648673 242648673 + Missense_Mutation SNP C C G TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr2:242648673C>G c.152C>G c.(151-153)tCc>tGc p.S51C BLCA 2 242662468 242662468 + Missense_Mutation SNP G G A TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr2:242662468G>A c.597G>A c.(595-597)atG>atA p.M199I BLCA 2 242662478 242662478 + Missense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr2:242662478G>A c.607G>A c.(607-609)Gac>Aac p.D203N BLCA 2 242662634 242662634 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr2:242662634G>A c.628G>A c.(628-630)Gag>Aag p.E210K BRCA 2 242648663 242648663 + Missense_Mutation SNP G G C TCGA-A2-A4RW-01A-21D-A25Q-09 TCGA-A2-A4RW-10A-01D-A25Q-09 g.chr2:242648663G>C c.142G>C c.(142-144)Gag>Cag p.E48Q CESC 2 242644096 242644096 + Missense_Mutation SNP G G C TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:242644096G>C c.66G>C c.(64-66)caG>caC p.Q22H COAD 2 242648658 242648658 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:242648658C>T c.137C>T c.(136-138)gCt>gTt p.A46V COAD 2 242648676 242648676 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:242648676C>T c.155C>T c.(154-156)aCg>aTg p.T52M COAD 2 242651426 242651426 + Frame_Shift_Del DEL G G - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:242651426delG c.422delG c.(421-423)cggfs p.R141fs COAD 2 242651431 242651431 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:242651431C>T c.427C>T c.(427-429)Cga>Tga p.R143* COAD 2 242662424 242662424 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:242662424G>A c.553G>A c.(553-555)Gaa>Aaa p.E185K COADREAD 2 242648658 242648658 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr2:242648658C>T c.137C>T c.(136-138)gCt>gTt p.A46V COADREAD 2 242648676 242648676 + Missense_Mutation SNP C C T TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr2:242648676C>T c.155C>T c.(154-156)aCg>aTg p.T52M COADREAD 2 242651426 242651426 + Frame_Shift_Del DEL G G - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr2:242651426delG c.422delG c.(421-423)cggfs p.R141fs COADREAD 2 242651431 242651431 + Nonsense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:242651431C>T c.427C>T c.(427-429)Cga>Tga p.R143* COADREAD 2 242662424 242662424 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr2:242662424G>A c.553G>A c.(553-555)Gaa>Aaa p.E185K ESCA 2 242662655 242662655 + Missense_Mutation SNP G G T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr2:242662655G>T c.649G>T c.(649-651)Gtg>Ttg p.V217L ESCA 2 242662678 242662678 + Silent SNP A A G TCGA-IG-A97H-01A-11D-A387-09 TCGA-IG-A97H-10A-01D-A38A-09 g.chr2:242662678A>G c.672A>G c.(670-672)aaA>aaG p.K224K GBMLGG 2 242650843 242650843 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 g.chr2:242650843G>T c.328G>T c.(328-330)Gat>Tat p.D110Y GBMLGG 2 242662453 242662453 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:242662453C>A c.582C>A c.(580-582)gtC>gtA p.V194V HNSC 2 242648716 242648716 + Silent SNP G G T TCGA-CV-7245-01A-11D-2012-08 TCGA-CV-7245-10A-01D-2013-08 g.chr2:242648716G>T c.195G>T c.(193-195)ctG>ctT p.L65L HNSC 2 242650884 242650884 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr2:242650884C>T c.369C>T c.(367-369)tcC>tcT p.S123S HNSC 2 242650891 242650891 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr2:242650891C>T c.376C>T c.(376-378)Cga>Tga p.R126* HNSC 2 242650899 242650899 + Frame_Shift_Del DEL A A - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:242650899delA c.384delA c.(382-384)ttafs p.L128fs HNSC 2 242662623 242662623 + Splice_Site SNP A A T TCGA-CR-7371-01A-11D-2012-08 TCGA-CR-7371-10A-01D-2013-08 g.chr2:242662623A>T c.e7-1 LGG 2 242650843 242650843 + Missense_Mutation SNP G G T TCGA-S9-A7IY-01A-11D-A34A-08 TCGA-S9-A7IY-10A-01D-A34A-08 g.chr2:242650843G>T c.328G>T c.(328-330)Gat>Tat p.D110Y LGG 2 242662453 242662453 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:242662453C>A c.582C>A c.(580-582)gtC>gtA p.V194V LIHC 2 242662639 242662639 + Nonsense_Mutation SNP G G A TCGA-2Y-A9H0-01A-11D-A382-10 TCGA-2Y-A9H0-10A-01D-A385-10 g.chr2:242662639G>A c.633G>A c.(631-633)tgG>tgA p.W211* LIHC 2 242662681 242662681 + Frame_Shift_Del DEL A A - TCGA-DD-AAEK-01A-11D-A40R-10 TCGA-DD-AAEK-10A-01D-A40U-10 g.chr2:242662681delA c.675delA c.(673-675)ggafs p.G225fs LUAD 2 242644135 242644135 + Silent SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr2:242644135G>T c.105G>T c.(103-105)acG>acT p.T35T LUAD 2 242650848 242650848 + Silent SNP G G A TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr2:242650848G>A c.333G>A c.(331-333)ctG>ctA p.L111L LUAD 2 242651391 242651391 + Splice_Site SNP A A T TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr2:242651391A>T c.e5-1 LUSC 2 242662685 242662685 + Splice_Site SNP T T C TCGA-18-3410-01A-01D-0983-08 TCGA-18-3410-11A-01D-0983-08 g.chr2:242662685T>C c.679T>C c.(679-681)Tgg>Cgg p.W227R PAAD 2 242648728 242648728 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:242648728G>T c.207G>T c.(205-207)caG>caT p.Q69H PAAD 2 242650884 242650884 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr2:242650884C>A c.369C>A c.(367-369)tcC>tcA p.S123S PAAD 2 242650891 242650891 + Nonsense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:242650891C>T c.376C>T c.(376-378)Cga>Tga p.R126* SKCM 2 242644072 242644072 + Silent SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr2:242644072C>T c.42C>T c.(40-42)atC>atT p.I14I SKCM 2 242644072 242644072 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr2:242644072C>T c.42C>T c.(40-42)atC>atT p.I14I SKCM 2 242644105 242644105 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:242644105C>T c.75C>T c.(73-75)ttC>ttT p.F25F SKCM 2 242648673 242648673 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr2:242648673C>T c.152C>T c.(151-153)tCc>tTc p.S51F SKCM 2 242664416 242664416 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr2:242664416G>A c.693G>A c.(691-693)cgG>cgA p.R231R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 242664425 242664425 single base substitution G A downstream_gene_variant BLCA-CN 2 242664425 242664425 single base substitution G A synonymous_variant Q234Q 702G>A BLCA-CN 2 242664425 242664425 single base substitution G A upstream_gene_variant BLCA-US 2 242662468 242662468 single base substitution G A downstream_gene_variant BLCA-US 2 242662468 242662468 single base substitution G A exon_variant BLCA-US 2 242662468 242662468 single base substitution G A missense_variant M199I 597G>A BLCA-US 2 242662468 242662468 single base substitution G A upstream_gene_variant BOCA-FR 2 242660180 242660180 single base substitution G A downstream_gene_variant BOCA-FR 2 242660180 242660180 single base substitution G A exon_variant BOCA-FR 2 242660180 242660180 single base substitution G A intron_variant BRCA-EU 2 242638452 242638452 single base substitution T G upstream_gene_variant BRCA-EU 2 242638454 242638454 insertion of <=200bp - G upstream_gene_variant BRCA-EU 2 242638946 242638946 single base substitution C G upstream_gene_variant BRCA-EU 2 242639136 242639136 single base substitution C G upstream_gene_variant BRCA-EU 2 242640293 242640293 single base substitution G C upstream_gene_variant BRCA-EU 2 242640335 242640335 single base substitution C G upstream_gene_variant BRCA-EU 2 242640342 242640342 single base substitution G C upstream_gene_variant BRCA-EU 2 242640954 242640954 single base substitution C A upstream_gene_variant BRCA-EU 2 242640960 242640960 single base substitution A C upstream_gene_variant BRCA-EU 2 242641259 242641259 single base substitution G A upstream_gene_variant BRCA-EU 2 242642092 242642092 single base substitution C T intron_variant BRCA-EU 2 242642241 242642241 single base substitution G C intron_variant BRCA-EU 2 242642871 242642871 single base substitution C A intron_variant BRCA-EU 2 242644263 242644263 single base substitution G T intron_variant BRCA-EU 2 242644263 242644263 single base substitution G T upstream_gene_variant BRCA-EU 2 242644499 242644499 insertion of <=200bp - T intron_variant BRCA-EU 2 242644499 242644499 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 242646399 242646399 single base substitution A C intron_variant BRCA-EU 2 242646399 242646399 single base substitution A C upstream_gene_variant BRCA-EU 2 242646484 242646484 single base substitution C T intron_variant BRCA-EU 2 242646484 242646484 single base substitution C T upstream_gene_variant BRCA-EU 2 242646893 242646893 single base substitution G C intron_variant BRCA-EU 2 242646893 242646893 single base substitution G C upstream_gene_variant BRCA-EU 2 242647414 242647414 single base substitution G T intron_variant BRCA-EU 2 242647414 242647414 single base substitution G T upstream_gene_variant BRCA-EU 2 242647546 242647546 single base substitution C T intron_variant BRCA-EU 2 242647546 242647546 single base substitution C T upstream_gene_variant BRCA-EU 2 242648117 242648117 single base substitution G C intron_variant BRCA-EU 2 242648117 242648117 single base substitution G C upstream_gene_variant BRCA-EU 2 242649203 242649203 single base substitution G A intron_variant BRCA-EU 2 242650665 242650665 single base substitution G C intron_variant BRCA-EU 2 242650807 242650807 single base substitution C T exon_variant BRCA-EU 2 242650807 242650807 single base substitution C T stop_gained R98* 292C>T BRCA-EU 2 242651296 242651296 single base substitution G A downstream_gene_variant BRCA-EU 2 242651296 242651296 single base substitution G A intron_variant BRCA-EU 2 242653863 242653863 single base substitution C A downstream_gene_variant BRCA-EU 2 242653863 242653863 single base substitution C A intron_variant BRCA-EU 2 242654584 242654584 single base substitution C T downstream_gene_variant BRCA-EU 2 242654584 242654584 single base substitution C T intron_variant BRCA-EU 2 242655990 242655990 single base substitution G A downstream_gene_variant BRCA-EU 2 242655990 242655990 single base substitution G A intron_variant BRCA-EU 2 242655990 242655990 single base substitution G A upstream_gene_variant BRCA-EU 2 242656554 242656554 single base substitution A C downstream_gene_variant BRCA-EU 2 242656554 242656554 single base substitution A C intron_variant BRCA-EU 2 242656554 242656554 single base substitution A C upstream_gene_variant BRCA-EU 2 242659009 242659009 single base substitution C A exon_variant BRCA-EU 2 242659009 242659009 single base substitution C A intron_variant BRCA-EU 2 242659009 242659009 single base substitution C A upstream_gene_variant BRCA-EU 2 242659737 242659737 single base substitution C T downstream_gene_variant BRCA-EU 2 242659737 242659737 single base substitution C T exon_variant BRCA-EU 2 242659737 242659737 single base substitution C T intron_variant BRCA-EU 2 242659737 242659737 single base substitution C T upstream_gene_variant BRCA-EU 2 242659883 242659883 single base substitution C T downstream_gene_variant BRCA-EU 2 242659883 242659883 single base substitution C T exon_variant BRCA-EU 2 242659883 242659883 single base substitution C T intron_variant BRCA-EU 2 242659883 242659883 single base substitution C T upstream_gene_variant BRCA-EU 2 242660303 242660303 single base substitution G A downstream_gene_variant BRCA-EU 2 242660303 242660303 single base substitution G A exon_variant BRCA-EU 2 242660303 242660303 single base substitution G A intron_variant BRCA-EU 2 242660465 242660465 single base substitution G A downstream_gene_variant BRCA-EU 2 242660465 242660465 single base substitution G A exon_variant BRCA-EU 2 242660465 242660465 single base substitution G A intron_variant BRCA-EU 2 242660544 242660544 single base substitution G A downstream_gene_variant BRCA-EU 2 242660544 242660544 single base substitution G A exon_variant BRCA-EU 2 242660544 242660544 single base substitution G A intron_variant BRCA-EU 2 242661006 242661006 single base substitution C T downstream_gene_variant BRCA-EU 2 242661006 242661006 single base substitution C T exon_variant BRCA-EU 2 242661006 242661006 single base substitution C T intron_variant BRCA-EU 2 242661006 242661006 single base substitution C T upstream_gene_variant BRCA-EU 2 242661864 242661864 single base substitution C G downstream_gene_variant BRCA-EU 2 242661864 242661864 single base substitution C G intron_variant BRCA-EU 2 242661864 242661864 single base substitution C G upstream_gene_variant BRCA-EU 2 242661904 242661904 single base substitution G A downstream_gene_variant BRCA-EU 2 242661904 242661904 single base substitution G A intron_variant BRCA-EU 2 242661904 242661904 single base substitution G A upstream_gene_variant BRCA-EU 2 242662189 242662189 single base substitution A G downstream_gene_variant BRCA-EU 2 242662189 242662189 single base substitution A G intron_variant BRCA-EU 2 242662189 242662189 single base substitution A G upstream_gene_variant BRCA-EU 2 242662880 242662880 single base substitution C G downstream_gene_variant BRCA-EU 2 242662880 242662880 single base substitution C G intron_variant BRCA-EU 2 242662880 242662880 single base substitution C G upstream_gene_variant BRCA-EU 2 242663179 242663179 single base substitution G A downstream_gene_variant BRCA-EU 2 242663179 242663179 single base substitution G A intron_variant BRCA-EU 2 242663179 242663179 single base substitution G A upstream_gene_variant BRCA-EU 2 242663406 242663406 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 242663406 242663406 single base substitution G C downstream_gene_variant BRCA-EU 2 242663406 242663406 single base substitution G C exon_variant BRCA-EU 2 242663406 242663406 single base substitution G C intron_variant BRCA-EU 2 242663406 242663406 single base substitution G C upstream_gene_variant BRCA-EU 2 242664256 242664256 single base substitution G A downstream_gene_variant BRCA-EU 2 242664256 242664256 single base substitution G A intron_variant BRCA-EU 2 242664256 242664256 single base substitution G A upstream_gene_variant BRCA-EU 2 242666562 242666562 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 242666562 242666562 single base substitution G T downstream_gene_variant BRCA-EU 2 242666562 242666562 single base substitution G T intron_variant BRCA-EU 2 242666562 242666562 single base substitution G T upstream_gene_variant BRCA-EU 2 242667395 242667395 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 242667395 242667395 single base substitution G T downstream_gene_variant BRCA-EU 2 242667395 242667395 single base substitution G T intron_variant BRCA-EU 2 242667879 242667879 single base substitution G T 3_prime_UTR_variant BRCA-EU 2 242667879 242667879 single base substitution G T downstream_gene_variant BRCA-EU 2 242667879 242667879 single base substitution G T intron_variant BRCA-EU 2 242667926 242667926 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 242667926 242667926 single base substitution C T downstream_gene_variant BRCA-EU 2 242667926 242667926 single base substitution C T exon_variant BRCA-EU 2 242668834 242668834 single base substitution T G 3_prime_UTR_variant BRCA-EU 2 242668834 242668834 single base substitution T G downstream_gene_variant BRCA-EU 2 242668994 242668994 single base substitution A T downstream_gene_variant BRCA-EU 2 242670295 242670295 single base substitution A C downstream_gene_variant BRCA-EU 2 242670304 242670304 single base substitution G T downstream_gene_variant BRCA-EU 2 242670790 242670790 single base substitution C T downstream_gene_variant BRCA-EU 2 242670832 242670832 single base substitution C T downstream_gene_variant BRCA-EU 2 242671082 242671082 single base substitution C G downstream_gene_variant BRCA-EU 2 242673257 242673257 single base substitution A C downstream_gene_variant BRCA-EU 2 242673499 242673499 single base substitution G A downstream_gene_variant BRCA-FR 2 242642218 242642218 single base substitution C G intron_variant BRCA-FR 2 242648117 242648117 single base substitution G C intron_variant BRCA-FR 2 242648117 242648117 single base substitution G C upstream_gene_variant BRCA-FR 2 242649203 242649203 single base substitution G A intron_variant BRCA-FR 2 242651296 242651296 single base substitution G A downstream_gene_variant BRCA-FR 2 242651296 242651296 single base substitution G A intron_variant BRCA-FR 2 242659968 242659968 single base substitution G T downstream_gene_variant BRCA-FR 2 242659968 242659968 single base substitution G T exon_variant BRCA-FR 2 242659968 242659968 single base substitution G T intron_variant BRCA-FR 2 242659968 242659968 single base substitution G T upstream_gene_variant BRCA-FR 2 242660072 242660072 single base substitution G A downstream_gene_variant BRCA-FR 2 242660072 242660072 single base substitution G A exon_variant BRCA-FR 2 242660072 242660072 single base substitution G A intron_variant BRCA-FR 2 242660072 242660072 single base substitution G A upstream_gene_variant BRCA-FR 2 242663344 242663344 single base substitution G A 3_prime_UTR_variant BRCA-FR 2 242663344 242663344 single base substitution G A downstream_gene_variant BRCA-FR 2 242663344 242663344 single base substitution G A exon_variant BRCA-FR 2 242663344 242663344 single base substitution G A intron_variant BRCA-FR 2 242663344 242663344 single base substitution G A upstream_gene_variant BRCA-FR 2 242663406 242663406 single base substitution G C 3_prime_UTR_variant BRCA-FR 2 242663406 242663406 single base substitution G C downstream_gene_variant BRCA-FR 2 242663406 242663406 single base substitution G C exon_variant BRCA-FR 2 242663406 242663406 single base substitution G C intron_variant BRCA-FR 2 242663406 242663406 single base substitution G C upstream_gene_variant BRCA-FR 2 242664256 242664256 single base substitution G A downstream_gene_variant BRCA-FR 2 242664256 242664256 single base substitution G A intron_variant BRCA-FR 2 242664256 242664256 single base substitution G A upstream_gene_variant BRCA-FR 2 242666562 242666562 single base substitution G T 3_prime_UTR_variant BRCA-FR 2 242666562 242666562 single base substitution G T downstream_gene_variant BRCA-FR 2 242666562 242666562 single base substitution G T intron_variant BRCA-FR 2 242666562 242666562 single base substitution G T upstream_gene_variant BRCA-FR 2 242672970 242672970 single base substitution C T downstream_gene_variant BRCA-UK 2 242654584 242654584 single base substitution C T downstream_gene_variant BRCA-UK 2 242654584 242654584 single base substitution C T intron_variant BRCA-US 2 242648663 242648663 single base substitution G C exon_variant BRCA-US 2 242648663 242648663 single base substitution G C missense_variant E48Q 142G>C BTCA-JP 2 242650769 242650769 single base substitution A C intron_variant BTCA-JP 2 242658779 242658779 single base substitution A T intron_variant BTCA-JP 2 242658779 242658779 single base substitution A T upstream_gene_variant BTCA-JP 2 242662468 242662468 single base substitution G A downstream_gene_variant BTCA-JP 2 242662468 242662468 single base substitution G A exon_variant BTCA-JP 2 242662468 242662468 single base substitution G A missense_variant M199I 597G>A BTCA-JP 2 242662468 242662468 single base substitution G A upstream_gene_variant CESC-US 2 242644096 242644096 single base substitution G C exon_variant CESC-US 2 242644096 242644096 single base substitution G C missense_variant Q22H 66G>C CESC-US 2 242644096 242644096 single base substitution G C upstream_gene_variant CESC-US 2 242660352 242660352 single base substitution G T downstream_gene_variant CESC-US 2 242660352 242660352 single base substitution G T exon_variant CESC-US 2 242660352 242660352 single base substitution G T intron_variant COAD-US 2 242648658 242648658 single base substitution C T exon_variant COAD-US 2 242648658 242648658 single base substitution C T missense_variant A46V 137C>T COAD-US 2 242648676 242648676 single base substitution C T exon_variant COAD-US 2 242648676 242648676 single base substitution C T missense_variant T52M 155C>T COAD-US 2 242662424 242662424 single base substitution G A 3_prime_UTR_variant COAD-US 2 242662424 242662424 single base substitution G A downstream_gene_variant COAD-US 2 242662424 242662424 single base substitution G A exon_variant COAD-US 2 242662424 242662424 single base substitution G A missense_variant E185K 553G>A COAD-US 2 242662424 242662424 single base substitution G A upstream_gene_variant COCA-CN 2 242648731 242648731 single base substitution C T exon_variant COCA-CN 2 242648731 242648731 single base substitution C T synonymous_variant N70N 210C>T COCA-CN 2 242659554 242659554 single base substitution C T downstream_gene_variant COCA-CN 2 242659554 242659554 single base substitution C T exon_variant COCA-CN 2 242659554 242659554 single base substitution C T intron_variant COCA-CN 2 242659554 242659554 single base substitution C T upstream_gene_variant COCA-CN 2 242662277 242662277 single base substitution C T downstream_gene_variant COCA-CN 2 242662277 242662277 single base substitution C T intron_variant COCA-CN 2 242662277 242662277 single base substitution C T upstream_gene_variant COCA-CN 2 242662296 242662296 single base substitution C T downstream_gene_variant COCA-CN 2 242662296 242662296 single base substitution C T intron_variant COCA-CN 2 242662296 242662296 single base substitution C T upstream_gene_variant COCA-CN 2 242662431 242662431 single base substitution C T 3_prime_UTR_variant COCA-CN 2 242662431 242662431 single base substitution C T downstream_gene_variant COCA-CN 2 242662431 242662431 single base substitution C T exon_variant COCA-CN 2 242662431 242662431 single base substitution C T missense_variant T187M 560C>T COCA-CN 2 242662431 242662431 single base substitution C T upstream_gene_variant COCA-CN 2 242662491 242662491 single base substitution T C downstream_gene_variant COCA-CN 2 242662491 242662491 single base substitution T C splice_donor_variant COCA-CN 2 242662491 242662491 single base substitution T C upstream_gene_variant EOPC-DE 2 242667128 242667128 single base substitution G C 3_prime_UTR_variant EOPC-DE 2 242667128 242667128 single base substitution G C downstream_gene_variant EOPC-DE 2 242667128 242667128 single base substitution G C intron_variant EOPC-DE 2 242667128 242667128 single base substitution G C upstream_gene_variant ESAD-UK 2 242642185 242642185 single base substitution C T intron_variant ESAD-UK 2 242643132 242643132 single base substitution T C intron_variant ESAD-UK 2 242643469 242643469 insertion of <=200bp - G intron_variant ESAD-UK 2 242645975 242645975 single base substitution G A intron_variant ESAD-UK 2 242645975 242645975 single base substitution G A upstream_gene_variant ESAD-UK 2 242648588 242648588 single base substitution G A exon_variant ESAD-UK 2 242648588 242648588 single base substitution G A intron_variant ESAD-UK 2 242649353 242649353 single base substitution A T intron_variant ESAD-UK 2 242649929 242649929 single base substitution C T intron_variant ESAD-UK 2 242650631 242650631 single base substitution C T intron_variant ESAD-UK 2 242652693 242652693 single base substitution G A downstream_gene_variant ESAD-UK 2 242652693 242652693 single base substitution G A intron_variant ESAD-UK 2 242658127 242658127 single base substitution C T intron_variant ESAD-UK 2 242658127 242658127 single base substitution C T upstream_gene_variant ESAD-UK 2 242662210 242662210 single base substitution G A downstream_gene_variant ESAD-UK 2 242662210 242662210 single base substitution G A intron_variant ESAD-UK 2 242662210 242662210 single base substitution G A upstream_gene_variant ESAD-UK 2 242663513 242663513 single base substitution G A downstream_gene_variant ESAD-UK 2 242663513 242663513 single base substitution G A intron_variant ESAD-UK 2 242663513 242663513 single base substitution G A upstream_gene_variant ESAD-UK 2 242664480 242664480 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 242664480 242664480 single base substitution T C downstream_gene_variant ESAD-UK 2 242664480 242664480 single base substitution T C upstream_gene_variant ESAD-UK 2 242664640 242664640 single base substitution C T 3_prime_UTR_variant ESAD-UK 2 242664640 242664640 single base substitution C T downstream_gene_variant ESAD-UK 2 242664640 242664640 single base substitution C T upstream_gene_variant ESAD-UK 2 242666138 242666138 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 242666138 242666138 single base substitution G A downstream_gene_variant ESAD-UK 2 242666138 242666138 single base substitution G A exon_variant ESAD-UK 2 242666138 242666138 single base substitution G A upstream_gene_variant ESAD-UK 2 242668352 242668352 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 242668352 242668352 single base substitution T C downstream_gene_variant ESAD-UK 2 242668987 242668987 single base substitution T A downstream_gene_variant ESCA-CN 2 242665335 242665335 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 242665335 242665335 single base substitution G A downstream_gene_variant ESCA-CN 2 242665335 242665335 single base substitution G A upstream_gene_variant KIRP-US 2 242664404 242664404 single base substitution G T downstream_gene_variant KIRP-US 2 242664404 242664404 single base substitution G T missense_variant W227C 681G>T KIRP-US 2 242664404 242664404 single base substitution G T upstream_gene_variant LAML-KR 2 242648546 242648546 single base substitution G A exon_variant LAML-KR 2 242648546 242648546 single base substitution G A intron_variant LAML-KR 2 242662207 242662207 single base substitution C A downstream_gene_variant LAML-KR 2 242662207 242662207 single base substitution C A intron_variant LAML-KR 2 242662207 242662207 single base substitution C A upstream_gene_variant LICA-CN 2 242664442 242664442 single base substitution A G downstream_gene_variant LICA-CN 2 242664442 242664442 single base substitution A G missense_variant K240R 719A>G LICA-CN 2 242664442 242664442 single base substitution A G upstream_gene_variant LICA-FR 2 242646372 242646372 insertion of <=200bp - T intron_variant LICA-FR 2 242646372 242646372 insertion of <=200bp - T upstream_gene_variant LICA-FR 2 242648791 242648791 single base substitution C T exon_variant LICA-FR 2 242648791 242648791 single base substitution C T synonymous_variant Y90Y 270C>T LICA-FR 2 242651475 242651475 single base substitution G T 3_prime_UTR_variant LICA-FR 2 242651475 242651475 single base substitution G T downstream_gene_variant LICA-FR 2 242651475 242651475 single base substitution G T exon_variant LICA-FR 2 242651475 242651475 single base substitution G T missense_variant K157N 471G>T LICA-FR 2 242652474 242652474 insertion of <=200bp - T downstream_gene_variant LICA-FR 2 242652474 242652474 insertion of <=200bp - T intron_variant LICA-FR 2 242653865 242653865 single base substitution A G downstream_gene_variant LICA-FR 2 242653865 242653865 single base substitution A G intron_variant LICA-FR 2 242665237 242665237 single base substitution G A 3_prime_UTR_variant LICA-FR 2 242665237 242665237 single base substitution G A downstream_gene_variant LICA-FR 2 242665237 242665237 single base substitution G A upstream_gene_variant LINC-JP 2 242659493 242659493 single base substitution A T downstream_gene_variant LINC-JP 2 242659493 242659493 single base substitution A T exon_variant LINC-JP 2 242659493 242659493 single base substitution A T intron_variant LINC-JP 2 242659493 242659493 single base substitution A T upstream_gene_variant LINC-JP 2 242662643 242662643 single base substitution C A downstream_gene_variant LINC-JP 2 242662643 242662643 single base substitution C A exon_variant LINC-JP 2 242662643 242662643 single base substitution C A missense_variant H213N 637C>A LINC-JP 2 242662643 242662643 single base substitution C A upstream_gene_variant LINC-JP 2 242664477 242664477 single base substitution A T 3_prime_UTR_variant LINC-JP 2 242664477 242664477 single base substitution A T downstream_gene_variant LINC-JP 2 242664477 242664477 single base substitution A T upstream_gene_variant LINC-JP 2 242664788 242664788 single base substitution G A 3_prime_UTR_variant LINC-JP 2 242664788 242664788 single base substitution G A downstream_gene_variant LINC-JP 2 242664788 242664788 single base substitution G A upstream_gene_variant LIRI-JP 2 242642865 242642865 single base substitution G T intron_variant LIRI-JP 2 242651562 242651562 single base substitution G C downstream_gene_variant LIRI-JP 2 242651562 242651562 single base substitution G C exon_variant LIRI-JP 2 242651562 242651562 single base substitution G C intron_variant LIRI-JP 2 242656443 242656443 single base substitution T C downstream_gene_variant LIRI-JP 2 242656443 242656443 single base substitution T C intron_variant LIRI-JP 2 242656443 242656443 single base substitution T C upstream_gene_variant LIRI-JP 2 242663012 242663012 single base substitution G T downstream_gene_variant LIRI-JP 2 242663012 242663012 single base substitution G T intron_variant LIRI-JP 2 242663012 242663012 single base substitution G T upstream_gene_variant LIRI-JP 2 242663063 242663063 single base substitution A G downstream_gene_variant LIRI-JP 2 242663063 242663063 single base substitution A G intron_variant LIRI-JP 2 242663063 242663063 single base substitution A G upstream_gene_variant LIRI-JP 2 242663965 242663965 single base substitution A G downstream_gene_variant LIRI-JP 2 242663965 242663965 single base substitution A G intron_variant LIRI-JP 2 242663965 242663965 single base substitution A G upstream_gene_variant LIRI-JP 2 242664508 242664508 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 242664508 242664508 single base substitution A G downstream_gene_variant LIRI-JP 2 242664508 242664508 single base substitution A G upstream_gene_variant LIRI-JP 2 242664900 242664900 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 242664900 242664900 single base substitution C A downstream_gene_variant LIRI-JP 2 242664900 242664900 single base substitution C A upstream_gene_variant LIRI-JP 2 242664933 242664933 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 242664933 242664933 single base substitution C T downstream_gene_variant LIRI-JP 2 242664933 242664933 single base substitution C T upstream_gene_variant LIRI-JP 2 242665070 242665070 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 2 242665070 242665070 deletion of <=200bp G - downstream_gene_variant LIRI-JP 2 242665070 242665070 deletion of <=200bp G - upstream_gene_variant LIRI-JP 2 242668095 242668095 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 242668095 242668095 single base substitution C T downstream_gene_variant LIRI-JP 2 242670926 242670926 single base substitution C T downstream_gene_variant LUSC-KR 2 242638667 242638667 single base substitution T C upstream_gene_variant LUSC-KR 2 242640307 242640307 single base substitution T A upstream_gene_variant LUSC-KR 2 242646119 242646119 single base substitution C T intron_variant LUSC-KR 2 242646119 242646119 single base substitution C T upstream_gene_variant LUSC-KR 2 242648545 242648545 single base substitution C T exon_variant LUSC-KR 2 242648545 242648545 single base substitution C T intron_variant LUSC-KR 2 242648549 242648549 single base substitution G A exon_variant LUSC-KR 2 242648549 242648549 single base substitution G A intron_variant LUSC-KR 2 242650634 242650634 single base substitution G A intron_variant LUSC-KR 2 242655943 242655943 single base substitution C T downstream_gene_variant LUSC-KR 2 242655943 242655943 single base substitution C T intron_variant LUSC-KR 2 242655943 242655943 single base substitution C T upstream_gene_variant LUSC-KR 2 242664415 242664415 single base substitution G T downstream_gene_variant LUSC-KR 2 242664415 242664415 single base substitution G T missense_variant R231L 692G>T LUSC-KR 2 242664415 242664415 single base substitution G T upstream_gene_variant LUSC-KR 2 242665847 242665847 single base substitution C T 3_prime_UTR_variant LUSC-KR 2 242665847 242665847 single base substitution C T downstream_gene_variant LUSC-KR 2 242665847 242665847 single base substitution C T upstream_gene_variant LUSC-KR 2 242670130 242670130 single base substitution C A downstream_gene_variant LUSC-KR 2 242672700 242672700 single base substitution G T downstream_gene_variant LUSC-US 2 242662685 242662685 single base substitution T C downstream_gene_variant LUSC-US 2 242662685 242662685 single base substitution T C missense_variant W227R 679T>C LUSC-US 2 242662685 242662685 single base substitution T C splice_region_variant LUSC-US 2 242662685 242662685 single base substitution T C stop_lost *227R 679T>C LUSC-US 2 242662685 242662685 single base substitution T C upstream_gene_variant MALY-DE 2 242638445 242638445 deletion of <=200bp T - upstream_gene_variant MALY-DE 2 242665017 242665017 single base substitution C T 3_prime_UTR_variant MALY-DE 2 242665017 242665017 single base substitution C T downstream_gene_variant MALY-DE 2 242665017 242665017 single base substitution C T upstream_gene_variant MALY-DE 2 242668979 242668979 single base substitution G T downstream_gene_variant MELA-AU 2 242636497 242636497 single base substitution T G upstream_gene_variant MELA-AU 2 242636540 242636540 single base substitution C T upstream_gene_variant MELA-AU 2 242637192 242637192 single base substitution C T upstream_gene_variant MELA-AU 2 242641361 242641361 single base substitution C T upstream_gene_variant MELA-AU 2 242641431 242641431 single base substitution C T upstream_gene_variant MELA-AU 2 242641818 242641818 single base substitution C T intron_variant MELA-AU 2 242641851 242641851 single base substitution C T intron_variant MELA-AU 2 242642415 242642415 single base substitution C T intron_variant MELA-AU 2 242643504 242643504 single base substitution C T intron_variant MELA-AU 2 242643504 242643504 single base substitution C T upstream_gene_variant MELA-AU 2 242643564 242643565 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 242643564 242643565 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 242643586 242643586 single base substitution T G intron_variant MELA-AU 2 242643586 242643586 single base substitution T G upstream_gene_variant MELA-AU 2 242644072 242644072 single base substitution C T exon_variant MELA-AU 2 242644072 242644072 single base substitution C T synonymous_variant I14I 42C>T MELA-AU 2 242644072 242644072 single base substitution C T upstream_gene_variant MELA-AU 2 242644346 242644346 single base substitution A G intron_variant MELA-AU 2 242644346 242644346 single base substitution A G upstream_gene_variant MELA-AU 2 242645246 242645246 single base substitution C T intron_variant MELA-AU 2 242645246 242645246 single base substitution C T upstream_gene_variant MELA-AU 2 242645326 242645326 single base substitution C T intron_variant MELA-AU 2 242645326 242645326 single base substitution C T upstream_gene_variant MELA-AU 2 242645412 242645412 single base substitution C T intron_variant MELA-AU 2 242645412 242645412 single base substitution C T upstream_gene_variant MELA-AU 2 242645709 242645709 single base substitution C T intron_variant MELA-AU 2 242645709 242645709 single base substitution C T upstream_gene_variant MELA-AU 2 242645743 242645743 single base substitution A C intron_variant MELA-AU 2 242645743 242645743 single base substitution A C upstream_gene_variant MELA-AU 2 242646830 242646830 single base substitution C T intron_variant MELA-AU 2 242646830 242646830 single base substitution C T upstream_gene_variant MELA-AU 2 242647236 242647236 single base substitution C T intron_variant MELA-AU 2 242647236 242647236 single base substitution C T upstream_gene_variant MELA-AU 2 242647344 242647344 single base substitution C T intron_variant MELA-AU 2 242647344 242647344 single base substitution C T upstream_gene_variant MELA-AU 2 242647351 242647351 single base substitution C T intron_variant MELA-AU 2 242647351 242647351 single base substitution C T upstream_gene_variant MELA-AU 2 242647533 242647533 single base substitution C T intron_variant MELA-AU 2 242647533 242647533 single base substitution C T upstream_gene_variant MELA-AU 2 242647599 242647599 single base substitution C T intron_variant MELA-AU 2 242647599 242647599 single base substitution C T upstream_gene_variant MELA-AU 2 242648653 242648653 single base substitution C T exon_variant MELA-AU 2 242648653 242648653 single base substitution C T synonymous_variant I44I 132C>T MELA-AU 2 242648694 242648694 single base substitution C T exon_variant MELA-AU 2 242648694 242648694 single base substitution C T missense_variant P58L 173C>T MELA-AU 2 242649144 242649145 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 242649145 242649145 single base substitution C T intron_variant MELA-AU 2 242649353 242649354 multiple base substitution (>=2bp and <=200bp) AT TA intron_variant MELA-AU 2 242649725 242649725 single base substitution A G intron_variant MELA-AU 2 242650404 242650404 single base substitution T G intron_variant MELA-AU 2 242650710 242650710 single base substitution C T intron_variant MELA-AU 2 242650897 242650897 single base substitution T C downstream_gene_variant MELA-AU 2 242650897 242650897 single base substitution T C exon_variant MELA-AU 2 242650897 242650897 single base substitution T C synonymous_variant L128L 382T>C MELA-AU 2 242651856 242651856 single base substitution A G downstream_gene_variant MELA-AU 2 242651856 242651856 single base substitution A G intron_variant MELA-AU 2 242652131 242652131 single base substitution T C downstream_gene_variant MELA-AU 2 242652131 242652131 single base substitution T C intron_variant MELA-AU 2 242652325 242652325 single base substitution C T downstream_gene_variant MELA-AU 2 242652325 242652325 single base substitution C T intron_variant MELA-AU 2 242653222 242653223 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 242653222 242653223 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 242654584 242654584 single base substitution C T downstream_gene_variant MELA-AU 2 242654584 242654584 single base substitution C T intron_variant MELA-AU 2 242654807 242654807 single base substitution C A downstream_gene_variant MELA-AU 2 242654807 242654807 single base substitution C A intron_variant MELA-AU 2 242654822 242654822 single base substitution G A downstream_gene_variant MELA-AU 2 242654822 242654822 single base substitution G A intron_variant MELA-AU 2 242654989 242654989 single base substitution C T downstream_gene_variant MELA-AU 2 242654989 242654989 single base substitution C T intron_variant MELA-AU 2 242655033 242655033 single base substitution G A downstream_gene_variant MELA-AU 2 242655033 242655033 single base substitution G A intron_variant MELA-AU 2 242655674 242655674 single base substitution C A downstream_gene_variant MELA-AU 2 242655674 242655674 single base substitution C A intron_variant MELA-AU 2 242655674 242655674 single base substitution C A upstream_gene_variant MELA-AU 2 242655758 242655758 single base substitution T C downstream_gene_variant MELA-AU 2 242655758 242655758 single base substitution T C intron_variant MELA-AU 2 242655758 242655758 single base substitution T C upstream_gene_variant MELA-AU 2 242656003 242656004 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 2 242656003 242656004 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 2 242656003 242656004 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 2 242656580 242656580 single base substitution C T downstream_gene_variant MELA-AU 2 242656580 242656580 single base substitution C T intron_variant MELA-AU 2 242656580 242656580 single base substitution C T upstream_gene_variant MELA-AU 2 242657328 242657328 single base substitution C T intron_variant MELA-AU 2 242657328 242657328 single base substitution C T upstream_gene_variant MELA-AU 2 242657368 242657368 single base substitution G A intron_variant MELA-AU 2 242657368 242657368 single base substitution G A upstream_gene_variant MELA-AU 2 242657389 242657416 deletion of <=200bp AAGCTTTTTTCTTTCTGTACTTCAGTTT - intron_variant MELA-AU 2 242657389 242657416 deletion of <=200bp AAGCTTTTTTCTTTCTGTACTTCAGTTT - upstream_gene_variant MELA-AU 2 242658282 242658282 single base substitution C T intron_variant MELA-AU 2 242658282 242658282 single base substitution C T upstream_gene_variant MELA-AU 2 242658408 242658408 single base substitution C T intron_variant MELA-AU 2 242658408 242658408 single base substitution C T upstream_gene_variant MELA-AU 2 242658414 242658414 single base substitution G A intron_variant MELA-AU 2 242658414 242658414 single base substitution G A upstream_gene_variant MELA-AU 2 242658519 242658519 single base substitution C T intron_variant MELA-AU 2 242658519 242658519 single base substitution C T upstream_gene_variant MELA-AU 2 242658632 242658632 single base substitution C T intron_variant MELA-AU 2 242658632 242658632 single base substitution C T upstream_gene_variant MELA-AU 2 242659385 242659385 single base substitution C T downstream_gene_variant MELA-AU 2 242659385 242659385 single base substitution C T intron_variant MELA-AU 2 242659385 242659385 single base substitution C T upstream_gene_variant MELA-AU 2 242659876 242659876 single base substitution C T downstream_gene_variant MELA-AU 2 242659876 242659876 single base substitution C T exon_variant MELA-AU 2 242659876 242659876 single base substitution C T intron_variant MELA-AU 2 242659876 242659876 single base substitution C T upstream_gene_variant MELA-AU 2 242660254 242660255 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 242660254 242660255 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 2 242660254 242660255 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 242660949 242660949 single base substitution G A downstream_gene_variant MELA-AU 2 242660949 242660949 single base substitution G A exon_variant MELA-AU 2 242660949 242660949 single base substitution G A intron_variant MELA-AU 2 242660949 242660949 single base substitution G A upstream_gene_variant MELA-AU 2 242661006 242661006 single base substitution C T downstream_gene_variant MELA-AU 2 242661006 242661006 single base substitution C T exon_variant MELA-AU 2 242661006 242661006 single base substitution C T intron_variant MELA-AU 2 242661006 242661006 single base substitution C T upstream_gene_variant MELA-AU 2 242661218 242661218 single base substitution C T downstream_gene_variant MELA-AU 2 242661218 242661218 single base substitution C T intron_variant MELA-AU 2 242661218 242661218 single base substitution C T upstream_gene_variant MELA-AU 2 242661303 242661303 single base substitution C T downstream_gene_variant MELA-AU 2 242661303 242661303 single base substitution C T intron_variant MELA-AU 2 242661303 242661303 single base substitution C T upstream_gene_variant MELA-AU 2 242661689 242661689 single base substitution C T downstream_gene_variant MELA-AU 2 242661689 242661689 single base substitution C T intron_variant MELA-AU 2 242661689 242661689 single base substitution C T upstream_gene_variant MELA-AU 2 242661748 242661748 single base substitution C T downstream_gene_variant MELA-AU 2 242661748 242661748 single base substitution C T intron_variant MELA-AU 2 242661748 242661748 single base substitution C T upstream_gene_variant MELA-AU 2 242662311 242662311 single base substitution C T downstream_gene_variant MELA-AU 2 242662311 242662311 single base substitution C T intron_variant MELA-AU 2 242662311 242662311 single base substitution C T upstream_gene_variant MELA-AU 2 242662325 242662325 single base substitution C T downstream_gene_variant MELA-AU 2 242662325 242662325 single base substitution C T intron_variant MELA-AU 2 242662325 242662325 single base substitution C T upstream_gene_variant MELA-AU 2 242662847 242662847 single base substitution C T downstream_gene_variant MELA-AU 2 242662847 242662847 single base substitution C T intron_variant MELA-AU 2 242662847 242662847 single base substitution C T upstream_gene_variant MELA-AU 2 242662985 242662986 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 242662985 242662986 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 242662985 242662986 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 242663688 242663689 multiple base substitution (>=2bp and <=200bp) AC CT downstream_gene_variant MELA-AU 2 242663688 242663689 multiple base substitution (>=2bp and <=200bp) AC CT intron_variant MELA-AU 2 242663688 242663689 multiple base substitution (>=2bp and <=200bp) AC CT upstream_gene_variant MELA-AU 2 242663757 242663757 single base substitution C T downstream_gene_variant MELA-AU 2 242663757 242663757 single base substitution C T intron_variant MELA-AU 2 242663757 242663757 single base substitution C T upstream_gene_variant MELA-AU 2 242664489 242664490 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 242664489 242664490 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 242664489 242664490 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 242664557 242664557 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242664557 242664557 single base substitution C T downstream_gene_variant MELA-AU 2 242664557 242664557 single base substitution C T upstream_gene_variant MELA-AU 2 242664612 242664612 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242664612 242664612 single base substitution C T downstream_gene_variant MELA-AU 2 242664612 242664612 single base substitution C T upstream_gene_variant MELA-AU 2 242664796 242664796 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242664796 242664796 single base substitution C T downstream_gene_variant MELA-AU 2 242664796 242664796 single base substitution C T upstream_gene_variant MELA-AU 2 242665069 242665069 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242665069 242665069 single base substitution C T downstream_gene_variant MELA-AU 2 242665069 242665069 single base substitution C T upstream_gene_variant MELA-AU 2 242665575 242665575 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242665575 242665575 single base substitution C T downstream_gene_variant MELA-AU 2 242665575 242665575 single base substitution C T upstream_gene_variant MELA-AU 2 242665972 242665972 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242665972 242665972 single base substitution C T downstream_gene_variant MELA-AU 2 242665972 242665972 single base substitution C T exon_variant MELA-AU 2 242665972 242665972 single base substitution C T upstream_gene_variant MELA-AU 2 242666049 242666049 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242666049 242666049 single base substitution C T downstream_gene_variant MELA-AU 2 242666049 242666049 single base substitution C T exon_variant MELA-AU 2 242666049 242666049 single base substitution C T upstream_gene_variant MELA-AU 2 242666753 242666753 single base substitution G A 3_prime_UTR_variant MELA-AU 2 242666753 242666753 single base substitution G A downstream_gene_variant MELA-AU 2 242666753 242666753 single base substitution G A intron_variant MELA-AU 2 242666753 242666753 single base substitution G A upstream_gene_variant MELA-AU 2 242666982 242666982 single base substitution G A 3_prime_UTR_variant MELA-AU 2 242666982 242666982 single base substitution G A downstream_gene_variant MELA-AU 2 242666982 242666982 single base substitution G A intron_variant MELA-AU 2 242666982 242666982 single base substitution G A upstream_gene_variant MELA-AU 2 242667334 242667334 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242667334 242667334 single base substitution C T downstream_gene_variant MELA-AU 2 242667334 242667334 single base substitution C T exon_variant MELA-AU 2 242667505 242667505 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242667505 242667505 single base substitution C T downstream_gene_variant MELA-AU 2 242667505 242667505 single base substitution C T intron_variant MELA-AU 2 242667636 242667637 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 242667636 242667637 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 242667636 242667637 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 242668235 242668235 single base substitution T A 3_prime_UTR_variant MELA-AU 2 242668235 242668235 single base substitution T A downstream_gene_variant MELA-AU 2 242668697 242668697 single base substitution C T 3_prime_UTR_variant MELA-AU 2 242668697 242668697 single base substitution C T downstream_gene_variant MELA-AU 2 242669020 242669021 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 242669100 242669100 single base substitution C T downstream_gene_variant MELA-AU 2 242670221 242670221 single base substitution A G downstream_gene_variant MELA-AU 2 242670619 242670619 single base substitution C T downstream_gene_variant MELA-AU 2 242670827 242670827 single base substitution G A downstream_gene_variant MELA-AU 2 242671043 242671043 single base substitution C T downstream_gene_variant MELA-AU 2 242671178 242671178 single base substitution C T downstream_gene_variant MELA-AU 2 242671362 242671362 single base substitution C T downstream_gene_variant MELA-AU 2 242671582 242671582 single base substitution G A downstream_gene_variant MELA-AU 2 242671754 242671754 single base substitution C T downstream_gene_variant MELA-AU 2 242672617 242672617 single base substitution G A downstream_gene_variant ORCA-IN 2 242658166 242658166 single base substitution C A intron_variant ORCA-IN 2 242658166 242658166 single base substitution C A upstream_gene_variant ORCA-IN 2 242661316 242661316 single base substitution A G downstream_gene_variant ORCA-IN 2 242661316 242661316 single base substitution A G intron_variant ORCA-IN 2 242661316 242661316 single base substitution A G upstream_gene_variant ORCA-IN 2 242666613 242666613 single base substitution G C 3_prime_UTR_variant ORCA-IN 2 242666613 242666613 single base substitution G C downstream_gene_variant ORCA-IN 2 242666613 242666613 single base substitution G C intron_variant ORCA-IN 2 242666613 242666613 single base substitution G C upstream_gene_variant ORCA-IN 2 242666949 242666949 single base substitution C T 3_prime_UTR_variant ORCA-IN 2 242666949 242666949 single base substitution C T downstream_gene_variant ORCA-IN 2 242666949 242666949 single base substitution C T intron_variant ORCA-IN 2 242666949 242666949 single base substitution C T upstream_gene_variant OV-AU 2 242639903 242639903 single base substitution C T upstream_gene_variant OV-AU 2 242640639 242640639 single base substitution A C upstream_gene_variant OV-AU 2 242643379 242643379 single base substitution T A intron_variant OV-AU 2 242653019 242653019 single base substitution C G downstream_gene_variant OV-AU 2 242653019 242653019 single base substitution C G intron_variant OV-AU 2 242665149 242665149 single base substitution T C 3_prime_UTR_variant OV-AU 2 242665149 242665149 single base substitution T C downstream_gene_variant OV-AU 2 242665149 242665149 single base substitution T C upstream_gene_variant OV-AU 2 242665150 242665150 single base substitution G T 3_prime_UTR_variant OV-AU 2 242665150 242665150 single base substitution G T downstream_gene_variant OV-AU 2 242665150 242665150 single base substitution G T upstream_gene_variant OV-AU 2 242672940 242672940 single base substitution A C downstream_gene_variant PACA-AU 2 242638156 242638156 insertion of <=200bp - T upstream_gene_variant PACA-AU 2 242638164 242638164 single base substitution A T upstream_gene_variant PACA-AU 2 242642737 242642737 single base substitution T C intron_variant PACA-AU 2 242650830 242650830 single base substitution G A exon_variant PACA-AU 2 242650830 242650830 single base substitution G A synonymous_variant A105A 315G>A PACA-AU 2 242653910 242653910 single base substitution T C downstream_gene_variant PACA-AU 2 242653910 242653910 single base substitution T C intron_variant PACA-AU 2 242654408 242654408 single base substitution C T downstream_gene_variant PACA-AU 2 242654408 242654408 single base substitution C T intron_variant PACA-AU 2 242654421 242654421 single base substitution C T downstream_gene_variant PACA-AU 2 242654421 242654421 single base substitution C T intron_variant PACA-AU 2 242654490 242654490 single base substitution C T downstream_gene_variant PACA-AU 2 242654490 242654490 single base substitution C T intron_variant PACA-AU 2 242654511 242654511 single base substitution C T downstream_gene_variant PACA-AU 2 242654511 242654511 single base substitution C T intron_variant PACA-AU 2 242654523 242654523 single base substitution C T downstream_gene_variant PACA-AU 2 242654523 242654523 single base substitution C T intron_variant PACA-AU 2 242655398 242655398 single base substitution G C downstream_gene_variant PACA-AU 2 242655398 242655398 single base substitution G C intron_variant PACA-AU 2 242655398 242655398 single base substitution G C upstream_gene_variant PACA-AU 2 242660477 242660477 single base substitution T G downstream_gene_variant PACA-AU 2 242660477 242660477 single base substitution T G exon_variant PACA-AU 2 242660477 242660477 single base substitution T G intron_variant PACA-AU 2 242663075 242663075 single base substitution G A downstream_gene_variant PACA-AU 2 242663075 242663075 single base substitution G A intron_variant PACA-AU 2 242663075 242663075 single base substitution G A upstream_gene_variant PACA-AU 2 242666014 242666014 single base substitution C T 3_prime_UTR_variant PACA-AU 2 242666014 242666014 single base substitution C T downstream_gene_variant PACA-AU 2 242666014 242666014 single base substitution C T exon_variant PACA-AU 2 242666014 242666014 single base substitution C T upstream_gene_variant PACA-AU 2 242667139 242667139 single base substitution G A 3_prime_UTR_variant PACA-AU 2 242667139 242667139 single base substitution G A downstream_gene_variant PACA-AU 2 242667139 242667139 single base substitution G A intron_variant PACA-AU 2 242667139 242667139 single base substitution G A upstream_gene_variant PACA-AU 2 242667592 242667592 single base substitution C T 3_prime_UTR_variant PACA-AU 2 242667592 242667592 single base substitution C T downstream_gene_variant PACA-AU 2 242667592 242667592 single base substitution C T intron_variant PACA-AU 2 242673009 242673009 single base substitution G A downstream_gene_variant PACA-CA 2 242638397 242638397 single base substitution C T upstream_gene_variant PACA-CA 2 242642426 242642426 single base substitution G A intron_variant PACA-CA 2 242643584 242643584 single base substitution C T intron_variant PACA-CA 2 242643584 242643584 single base substitution C T upstream_gene_variant PACA-CA 2 242645113 242645113 single base substitution G A intron_variant PACA-CA 2 242645113 242645113 single base substitution G A upstream_gene_variant PACA-CA 2 242645340 242645340 single base substitution G A intron_variant PACA-CA 2 242645340 242645340 single base substitution G A upstream_gene_variant PACA-CA 2 242649353 242649353 single base substitution A T intron_variant PACA-CA 2 242649354 242649354 single base substitution T A intron_variant PACA-CA 2 242649536 242649536 single base substitution T A intron_variant PACA-CA 2 242653450 242653450 single base substitution C T downstream_gene_variant PACA-CA 2 242653450 242653450 single base substitution C T intron_variant PACA-CA 2 242655469 242655469 single base substitution T A downstream_gene_variant PACA-CA 2 242655469 242655469 single base substitution T A intron_variant PACA-CA 2 242655469 242655469 single base substitution T A upstream_gene_variant PACA-CA 2 242657036 242657036 single base substitution G T intron_variant PACA-CA 2 242657036 242657036 single base substitution G T upstream_gene_variant PACA-CA 2 242657701 242657701 single base substitution T G intron_variant PACA-CA 2 242657701 242657701 single base substitution T G upstream_gene_variant PACA-CA 2 242664718 242664718 single base substitution C T 3_prime_UTR_variant PACA-CA 2 242664718 242664718 single base substitution C T downstream_gene_variant PACA-CA 2 242664718 242664718 single base substitution C T upstream_gene_variant PACA-CA 2 242671779 242671780 deletion of <=200bp AG - downstream_gene_variant PACA-CA 2 242672021 242672021 single base substitution A C downstream_gene_variant PACA-CA 2 242672428 242672428 single base substitution G A downstream_gene_variant PAEN-AU 2 242652370 242652370 single base substitution C T downstream_gene_variant PAEN-AU 2 242652370 242652370 single base substitution C T intron_variant PAEN-AU 2 242658273 242658273 single base substitution G A intron_variant PAEN-AU 2 242658273 242658273 single base substitution G A upstream_gene_variant PBCA-DE 2 242664905 242664905 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 242664905 242664905 single base substitution C T downstream_gene_variant PBCA-DE 2 242664905 242664905 single base substitution C T upstream_gene_variant PBCA-DE 2 242666278 242666278 single base substitution C T 3_prime_UTR_variant PBCA-DE 2 242666278 242666278 single base substitution C T downstream_gene_variant PBCA-DE 2 242666278 242666278 single base substitution C T intron_variant PBCA-DE 2 242666278 242666278 single base substitution C T upstream_gene_variant PBCA-DE 2 242666701 242666702 deletion of <=200bp TG - 3_prime_UTR_variant PBCA-DE 2 242666701 242666702 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 2 242666701 242666702 deletion of <=200bp TG - intron_variant PBCA-DE 2 242666701 242666702 deletion of <=200bp TG - upstream_gene_variant PBCA-DE 2 242671071 242671071 single base substitution G A downstream_gene_variant PBCA-DE 2 242673274 242673274 single base substitution G C downstream_gene_variant PRAD-CA 2 242661548 242661548 single base substitution G T downstream_gene_variant PRAD-CA 2 242661548 242661548 single base substitution G T intron_variant PRAD-CA 2 242661548 242661548 single base substitution G T upstream_gene_variant PRAD-UK 2 242643302 242643302 single base substitution T C intron_variant RECA-EU 2 242644134 242644134 single base substitution C T exon_variant RECA-EU 2 242644134 242644134 single base substitution C T missense_variant T35M 104C>T RECA-EU 2 242644134 242644134 single base substitution C T upstream_gene_variant RECA-EU 2 242644814 242644814 single base substitution T C intron_variant RECA-EU 2 242644814 242644814 single base substitution T C upstream_gene_variant RECA-EU 2 242661827 242661827 single base substitution G A downstream_gene_variant RECA-EU 2 242661827 242661827 single base substitution G A intron_variant RECA-EU 2 242661827 242661827 single base substitution G A upstream_gene_variant RECA-EU 2 242663349 242663349 single base substitution T A 3_prime_UTR_variant RECA-EU 2 242663349 242663349 single base substitution T A downstream_gene_variant RECA-EU 2 242663349 242663349 single base substitution T A exon_variant RECA-EU 2 242663349 242663349 single base substitution T A intron_variant RECA-EU 2 242663349 242663349 single base substitution T A upstream_gene_variant RECA-EU 2 242664025 242664025 single base substitution G A downstream_gene_variant RECA-EU 2 242664025 242664025 single base substitution G A intron_variant RECA-EU 2 242664025 242664025 single base substitution G A upstream_gene_variant RECA-EU 2 242671781 242671781 single base substitution A G downstream_gene_variant SKCA-BR 2 242638443 242638443 single base substitution A T upstream_gene_variant SKCA-BR 2 242638587 242638587 single base substitution A G upstream_gene_variant SKCA-BR 2 242639114 242639114 single base substitution T G upstream_gene_variant SKCA-BR 2 242640890 242640890 single base substitution A G upstream_gene_variant SKCA-BR 2 242641432 242641432 single base substitution C T upstream_gene_variant SKCA-BR 2 242642508 242642508 single base substitution C T intron_variant SKCA-BR 2 242643472 242643472 single base substitution G A intron_variant SKCA-BR 2 242646040 242646040 insertion of <=200bp - CA intron_variant SKCA-BR 2 242646040 242646040 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 2 242646371 242646371 insertion of <=200bp - AT intron_variant SKCA-BR 2 242646371 242646371 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 2 242648970 242648970 insertion of <=200bp - GTT intron_variant SKCA-BR 2 242650353 242650353 single base substitution G A intron_variant SKCA-BR 2 242654584 242654584 single base substitution C T downstream_gene_variant SKCA-BR 2 242654584 242654584 single base substitution C T intron_variant SKCA-BR 2 242655696 242655697 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 2 242655696 242655697 deletion of <=200bp CT - intron_variant SKCA-BR 2 242655696 242655697 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 2 242657111 242657111 single base substitution C T intron_variant SKCA-BR 2 242657111 242657111 single base substitution C T upstream_gene_variant SKCA-BR 2 242657483 242657483 single base substitution G A intron_variant SKCA-BR 2 242657483 242657483 single base substitution G A upstream_gene_variant SKCA-BR 2 242662512 242662512 single base substitution G C downstream_gene_variant SKCA-BR 2 242662512 242662512 single base substitution G C intron_variant SKCA-BR 2 242662512 242662512 single base substitution G C upstream_gene_variant SKCA-BR 2 242665575 242665575 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 242665575 242665575 single base substitution C T downstream_gene_variant SKCA-BR 2 242665575 242665575 single base substitution C T upstream_gene_variant SKCA-BR 2 242667658 242667658 single base substitution C A 3_prime_UTR_variant SKCA-BR 2 242667658 242667658 single base substitution C A downstream_gene_variant SKCA-BR 2 242667658 242667658 single base substitution C A intron_variant SKCA-BR 2 242668369 242668369 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 242668369 242668369 single base substitution C T downstream_gene_variant SKCA-BR 2 242668920 242668920 single base substitution C T downstream_gene_variant SKCA-BR 2 242672773 242672773 insertion of <=200bp - GCAAA downstream_gene_variant SKCM-US 2 242644072 242644072 single base substitution C T exon_variant SKCM-US 2 242644072 242644072 single base substitution C T synonymous_variant I14I 42C>T SKCM-US 2 242644072 242644072 single base substitution C T upstream_gene_variant SKCM-US 2 242644105 242644105 single base substitution C T exon_variant SKCM-US 2 242644105 242644105 single base substitution C T synonymous_variant F25F 75C>T SKCM-US 2 242644105 242644105 single base substitution C T upstream_gene_variant SKCM-US 2 242648673 242648673 single base substitution C T exon_variant SKCM-US 2 242648673 242648673 single base substitution C T missense_variant S51F 152C>T SKCM-US 2 242664416 242664416 single base substitution G A downstream_gene_variant SKCM-US 2 242664416 242664416 single base substitution G A synonymous_variant R231R 693G>A SKCM-US 2 242664416 242664416 single base substitution G A upstream_gene_variant STAD-US 2 242644110 242644110 single base substitution T A exon_variant STAD-US 2 242644110 242644110 single base substitution T A missense_variant L27Q 80T>A STAD-US 2 242644110 242644110 single base substitution T A upstream_gene_variant STAD-US 2 242662478 242662478 single base substitution G A downstream_gene_variant STAD-US 2 242662478 242662478 single base substitution G A exon_variant STAD-US 2 242662478 242662478 single base substitution G A missense_variant D203N 607G>A STAD-US 2 242662478 242662478 single base substitution G A upstream_gene_variant STAD-US 2 242662669 242662669 single base substitution G A downstream_gene_variant STAD-US 2 242662669 242662669 single base substitution G A exon_variant STAD-US 2 242662669 242662669 single base substitution G A synonymous_variant T221T 663G>A STAD-US 2 242662669 242662669 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT116 COSM2910881 c.402G>A p.Q134Q Substitution - coding silent 2:241711991-241711991 + LAU63 COSM233971 c.388+6T>A p.? Unknown 2:241711494-241711494 + TCGA-BT-A3PK-01 COSM3798835 c.597G>A p.M199I Substitution - Missense 2:241723053-241723053 + YUOMEGA COSM345306 c.322G>A p.E108K Substitution - Missense 2:241711422-241711422 + B71-Tumor COSM3933593 c.702G>A p.Q234Q Substitution - coding silent 2:241725010-241725010 + SC_9047 COSM5556396 c.638A>G p.H213R Substitution - Missense 2:241723229-241723229 + 489 COSM3722167 c.369C>T p.S123S Substitution - coding silent 2:241711469-241711469 + sysucc-1317T COSM5449692 c.618+2T>C p.? Unknown 2:241723076-241723076 + S02322 COSM5691383 c.187G>T p.E63* Substitution - Nonsense 2:241709293-241709293 + TCGA-EE-A29S-06 COSM3580135 c.42C>T p.I14I Substitution - coding silent 2:241704657-241704657 + TCGA-EE-A3AA-06 COSM3580135 c.42C>T p.I14I Substitution - coding silent 2:241704657-241704657 + LS174T COSM2910878 c.252G>A p.Q84Q Substitution - coding silent 2:241709358-241709358 + TCGA-D5-6927-01 COSM1406986 c.553G>A p.E185K Substitution - Missense 2:241723009-241723009 + 587342 COSM1210671 c.305C>T p.A102V Substitution - Missense 2:241711405-241711405 + TCGA-AA-3713-01 COSM1406985 c.155C>T p.T52M Substitution - Missense 2:241709261-241709261 + TCGA-A2-A4RW-01 COSM3839111 c.142G>C p.E48Q Substitution - Missense 2:241709248-241709248 + 587376 COSM1210672 c.292C>T p.R98* Substitution - Nonsense 2:241711392-241711392 + HX25T COSM1614639 c.637C>A p.H213N Substitution - Missense 2:241723228-241723228 + LUAD-CHTN-MAD06-00490 COSM357992 c.425G>A p.G142D Substitution - Missense 2:241712014-241712014 + sysucc-966T COSM5487102 c.560C>T p.T187M Substitution - Missense 2:241723016-241723016 + sysucc-1370T COSM5471530 c.210C>T p.N70N Substitution - coding silent 2:241709316-241709316 + TCGA-18-3410-01 COSM720831 c.679T>C p.W227R Substitution - Missense 2:241723270-241723270 + C0091T COSM4164462 c.104C>T p.T35M Substitution - Missense 2:241704719-241704719 + BCM723T COSM4956655 c.270C>T p.Y90Y Substitution - coding silent 2:241709376-241709376 + HCC23 COSM1614639 c.637C>A p.H213N Substitution - Missense 2:241723228-241723228 + HCC23T COSM1614639 c.637C>A p.H213N Substitution - Missense 2:241723228-241723228 + 2734_T COSM3962670 c.86G>A p.R29Q Substitution - Missense 2:241704701-241704701 + TCGA-EE-A3JD-06 COSM4394454 c.75C>T p.F25F Substitution - coding silent 2:241704690-241704690 + CHC798T COSM4958170 c.471G>T p.K157N Substitution - Missense 2:241712060-241712060 + LS180 COSM2910878 c.252G>A p.Q84Q Substitution - coding silent 2:241709358-241709358 + 055T COSM1729964 c.301G>A p.D101N Substitution - Missense 2:241711401-241711401 + 8062308 COSM2910879 c.315G>A p.A105A Substitution - coding silent 2:241711415-241711415 + TCGA-A6-5665-01 COSM1406984 c.137C>T p.A46V Substitution - Missense 2:241709243-241709243 + 215 COSM4424536 c.165G>A p.T55T Substitution - coding silent 2:241709271-241709271 + TCGA-C5-A1BQ-01 COSM4841655 c.66G>C p.Q22H Substitution - Missense 2:241704681-241704681 + TCGA-FS-A1Z3-06 COSM2910873 c.152C>T p.S51F Substitution - Missense 2:241709258-241709258 + TCGA-P4-A5ED-01 COSM3991211 c.681G>T p.W227C Substitution - Missense 2:241724989-241724989 + CSCC-7-T COSM4499324 c.53C>T p.P18L Substitution - Missense 2:241704668-241704668 + LUAD-S01315 COSM345306 c.322G>A p.E108K Substitution - Missense 2:241711422-241711422 + TCGA-12-0656 COSM2153799 c.184G>A p.V62M Substitution - Missense 2:241709290-241709290 + HCT-15 COSM1669916 c.40A>G p.I14V Substitution - Missense 2:241704655-241704655 + BCM723T COSM4956655 c.270C>T p.Y90Y Substitution - coding silent 2:241709376-241709376 + TCGA-EE-A3J5-06 COSM3580136 c.693G>A p.R231R Substitution - coding silent 2:241725001-241725001 + pfg100T COSM4764941 c.482+1G>T p.? Unknown 2:241712072-241712072 + TCGA-CG-5726-01 COSM4093137 c.663G>A p.T221T Substitution - coding silent 2:241723254-241723254 + TCGA-CG-5721-01 COSM4093135 c.80T>A p.L27Q Substitution - Missense 2:241704695-241704695 + J30_T COSM3962671 c.692G>T p.R231L Substitution - Missense 2:241725000-241725000 + TCGA-CG-5721-01 COSM4093136 c.607G>A p.D203N Substitution - Missense 2:241723063-241723063 + HCC022T COSM5817759 c.719A>G p.K240R Substitution - Missense 2:241725027-241725027 + CHC798T COSM4958170 c.471G>T p.K157N Substitution - Missense 2:241712060-241712060 + PD11342a COSM1210672 c.292C>T p.R98* Substitution - Nonsense 2:241711392-241711392 + HCT15 COSM1669916 c.40A>G p.I14V Substitution - Missense 2:241704655-241704655 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529172 2q37.3 608525

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.720+65A>G 2 242664508 HC - AG Frameshift p.T220Kfs*55 c.658_659insAG 2 242662664 THCA A T SpliceAcceptorSNV . c.389-2A>T 2 242651391 LUAD A T SpliceAcceptorSNV . c.619-2A>T 2 242662623 HNSC CG AT Missense p.G124* c.369_370delinsAT 2 242650884 CM C T 3-UTRSNV . c.720+574C>T 2 242665017 DLBCL C T Missense p.S51F c.152C>T 2 242648673 CM C T Nonsense p.R126* c.376C>T 2 242650891 HNSC C T Synonymous p.F25F c.75C>T 2 242644105 CM C T Synonymous p.L45L c.133C>T 2 242648654 CM C T Synonymous p.S123S c.369C>T 2 242650884 HNSC G A Missense p.M199I c.597G>A 2 242662468 BLCA G A Synonymous p.R231R c.693G>A 2 242664416 CM G A Synonymous p.T221T c.663G>A 2 242662669 STAD G T Missense p.M28I c.84G>T 2 242644114 HNSC G T Synonymous p.L65L c.195G>T 2 242648716 HNSC T C Missense p.W227R c.679T>C 2 242662685 LUSC T G IntronicSNV . c.388+25T>G 2 242650928 CM - T IntronicInsertion . c.276+191dupT 2 242648971 CM