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 74734008 74734008 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:74734008C>T c.203G>A c.(202-204)tGc>tAc p.C68Y BLCA 2 74734257 74734257 + Missense_Mutation SNP C C G TCGA-GC-A6I3-01A-11D-A31L-08 TCGA-GC-A6I3-10A-01D-A31J-08 g.chr2:74734257C>G c.111G>C c.(109-111)aaG>aaC p.K37N BRCA 2 74733153 74733153 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:74733153G>A c.456C>T c.(454-456)ttC>ttT p.F152F BRCA 2 74734188 74734188 + Silent SNP G G A TCGA-A7-A26E-01A-11D-A167-09 TCGA-A7-A26E-10A-01D-A167-09 g.chr2:74734188G>A c.180C>T c.(178-180)atC>atT p.I60I CESC 2 74732735 74732735 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr2:74732735C>T c.595G>A c.(595-597)Gag>Aag p.E199K COAD 2 74733181 74733181 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:74733181G>T c.428C>A c.(427-429)cCa>cAa p.P143Q COAD 2 74733988 74733988 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:74733988A>G c.223T>C c.(223-225)Tac>Cac p.Y75H COAD 2 74734268 74734268 + Missense_Mutation SNP C C A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr2:74734268C>A c.100G>T c.(100-102)Gtt>Ttt p.V34F COAD 2 74734792 74734792 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:74734792C>T c.4G>A c.(4-6)Gcg>Acg p.A2T COADREAD 2 74733181 74733181 + Missense_Mutation SNP G G T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr2:74733181G>T c.428C>A c.(427-429)cCa>cAa p.P143Q COADREAD 2 74733988 74733988 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:74733988A>G c.223T>C c.(223-225)Tac>Cac p.Y75H COADREAD 2 74734268 74734268 + Missense_Mutation SNP C C A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr2:74734268C>A c.100G>T c.(100-102)Gtt>Ttt p.V34F COADREAD 2 74734792 74734792 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:74734792C>T c.4G>A c.(4-6)Gcg>Acg p.A2T ESCA 2 74733105 74733105 + Silent SNP C C T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr2:74733105C>T c.504G>A c.(502-504)caG>caA p.Q168Q ESCA 2 74733931 74733931 + Missense_Mutation SNP G G T TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr2:74733931G>T c.280C>A c.(280-282)Cca>Aca p.P94T HNSC 2 74733102 74733102 + Silent SNP C C T TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 g.chr2:74733102C>T c.507G>A c.(505-507)ttG>ttA p.L169L HNSC 2 74733307 74733307 + Splice_Site SNP C C T TCGA-QK-A6IJ-01A-11D-A31L-08 TCGA-QK-A6IJ-10A-01D-A31J-08 g.chr2:74733307C>T c.e4+1 HNSC 2 74733873 74733873 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:74733873G>T c.338C>A c.(337-339)cCt>cAt p.P113H HNSC 2 74734013 74734013 + Splice_Site SNP T T C TCGA-CV-7406-01A-11D-2078-08 TCGA-CV-7406-10A-01D-2078-08 g.chr2:74734013T>C c.e3-2 KICH 2 74734182 74734183 + Frame_Shift_Del DEL CT CT - TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr2:74734182_74734183delCT c.185_186delAG c.(184-186)gagfs p.E62fs KICH 2 74734183 74734184 + Frame_Shift_Del DEL CT CT - TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr2:74734183_74734184delCT c.184_185delAG c.(184-186)aggfs p.R62fs KIPAN 2 74732306 74732306 + Silent SNP C C T TCGA-B0-5121-01A-02D-1421-08 TCGA-B0-5121-11A-01D-1421-08 g.chr2:74732306C>T c.744G>A c.(742-744)ttG>ttA p.L248L KIPAN 2 74734182 74734183 + Frame_Shift_Del DEL CT CT - TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr2:74734182_74734183delCT c.185_186delAG c.(184-186)gagfs p.E62fs KIPAN 2 74734183 74734184 + Frame_Shift_Del DEL CT CT - TCGA-KL-8335-01A-11D-2310-10 TCGA-KL-8335-11A-01D-2310-10 g.chr2:74734183_74734184delCT c.184_185delAG c.(184-186)aggfs p.R62fs KIRC 2 74732306 74732306 + Silent SNP C C T TCGA-B0-5121-01A-02D-1421-08 TCGA-B0-5121-11A-01D-1421-08 g.chr2:74732306C>T c.744G>A c.(742-744)ttG>ttA p.L248L LUAD 2 74733992 74733992 + Silent SNP C C T TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr2:74733992C>T c.219G>A c.(217-219)gtG>gtA p.V73V LUAD 2 74734264 74734264 + Missense_Mutation SNP C C G TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr2:74734264C>G c.104G>C c.(103-105)cGa>cCa p.R35P OV 2 74732884 74732884 + Missense_Mutation SNP T T C TCGA-24-2019-01A-02W-0722-08 TCGA-24-2019-10A-01W-0722-08 g.chr2:74732884T>C c.544A>G c.(544-546)Aag>Gag p.K182E SKCM 2 74733311 74733311 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:74733311C>T c.421G>A c.(421-423)Gaa>Aaa p.E141K SKCM 2 74733312 74733312 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:74733312C>T c.420G>A c.(418-420)ggG>ggA p.G140G

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 74732492 74732492 single base substitution T G downstream_gene_variant BLCA-CN 2 74732492 74732492 single base substitution T G exon_variant BLCA-CN 2 74732492 74732492 single base substitution T G missense_variant I236L 706A>C BRCA-EU 2 74727420 74727420 single base substitution G C downstream_gene_variant BRCA-EU 2 74727721 74727721 single base substitution C T downstream_gene_variant BRCA-EU 2 74728921 74728922 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 2 74729016 74729016 single base substitution G T downstream_gene_variant BRCA-EU 2 74729569 74729569 single base substitution G A downstream_gene_variant BRCA-EU 2 74730014 74730014 single base substitution G A downstream_gene_variant BRCA-EU 2 74731808 74731808 single base substitution C G downstream_gene_variant BRCA-EU 2 74733705 74733705 insertion of <=200bp - A exon_variant BRCA-EU 2 74733705 74733705 insertion of <=200bp - A intron_variant BRCA-EU 2 74733705 74733705 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 74733825 74733825 single base substitution C G exon_variant BRCA-EU 2 74733825 74733825 single base substitution C G intron_variant BRCA-EU 2 74733825 74733825 single base substitution C G upstream_gene_variant BRCA-EU 2 74734915 74734915 single base substitution T A 5_prime_UTR_variant BRCA-EU 2 74734915 74734915 single base substitution T A upstream_gene_variant BRCA-EU 2 74736057 74736057 single base substitution C T upstream_gene_variant BRCA-EU 2 74736070 74736070 single base substitution A G upstream_gene_variant BRCA-EU 2 74736615 74736615 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 74736721 74736721 single base substitution G A upstream_gene_variant BRCA-EU 2 74739419 74739419 single base substitution C T upstream_gene_variant BRCA-EU 2 74739474 74739474 single base substitution G T upstream_gene_variant BRCA-EU 2 74739693 74739693 single base substitution C T upstream_gene_variant BRCA-FR 2 74729569 74729569 single base substitution G A downstream_gene_variant BRCA-FR 2 74734264 74734264 single base substitution C G exon_variant BRCA-FR 2 74734264 74734264 single base substitution C G missense_variant R35P 104G>C BRCA-FR 2 74734264 74734264 single base substitution C G upstream_gene_variant BRCA-FR 2 74734285 74734285 single base substitution A G exon_variant BRCA-FR 2 74734285 74734285 single base substitution A G intron_variant BRCA-FR 2 74734285 74734285 single base substitution A G upstream_gene_variant BRCA-FR 2 74739474 74739474 single base substitution G T upstream_gene_variant BRCA-UK 2 74734124 74734124 single base substitution G A intron_variant BRCA-UK 2 74734124 74734124 single base substitution G A upstream_gene_variant BRCA-US 2 74729939 74729939 insertion of <=200bp - C downstream_gene_variant BRCA-US 2 74733153 74733153 single base substitution G A downstream_gene_variant BRCA-US 2 74733153 74733153 single base substitution G A exon_variant BRCA-US 2 74733153 74733153 single base substitution G A intron_variant BRCA-US 2 74733153 74733153 single base substitution G A synonymous_variant F152F 456C>T BRCA-US 2 74733153 74733153 single base substitution G A upstream_gene_variant BRCA-US 2 74734188 74734188 single base substitution G A exon_variant BRCA-US 2 74734188 74734188 single base substitution G A synonymous_variant I60I 180C>T BRCA-US 2 74734188 74734188 single base substitution G A upstream_gene_variant BTCA-JP 2 74729992 74729992 single base substitution C T downstream_gene_variant BTCA-JP 2 74732816 74732816 single base substitution A G downstream_gene_variant BTCA-JP 2 74732816 74732816 single base substitution A G exon_variant BTCA-JP 2 74732816 74732816 single base substitution A G intron_variant BTCA-JP 2 74732816 74732816 single base substitution A G upstream_gene_variant BTCA-JP 2 74733918 74733918 single base substitution A C exon_variant BTCA-JP 2 74733918 74733918 single base substitution A C missense_variant L98R 293T>G BTCA-JP 2 74733918 74733918 single base substitution A C upstream_gene_variant BTCA-JP 2 74734992 74734992 single base substitution G A 5_prime_UTR_variant BTCA-JP 2 74734992 74734992 single base substitution G A upstream_gene_variant CESC-US 2 74729814 74729814 single base substitution G A downstream_gene_variant CESC-US 2 74732735 74732735 single base substitution C T downstream_gene_variant CESC-US 2 74732735 74732735 single base substitution C T exon_variant CESC-US 2 74732735 74732735 single base substitution C T missense_variant E199K 595G>A CLLE-ES 2 74728553 74728553 single base substitution C T downstream_gene_variant CLLE-ES 2 74737586 74737586 single base substitution C T upstream_gene_variant COAD-US 2 74733124 74733124 single base substitution T C downstream_gene_variant COAD-US 2 74733124 74733124 single base substitution T C exon_variant COAD-US 2 74733124 74733124 single base substitution T C intron_variant COAD-US 2 74733124 74733124 single base substitution T C missense_variant Y162C 485A>G COAD-US 2 74733124 74733124 single base substitution T C upstream_gene_variant COAD-US 2 74734268 74734268 single base substitution C A exon_variant COAD-US 2 74734268 74734268 single base substitution C A missense_variant V34F 100G>T COAD-US 2 74734268 74734268 single base substitution C A upstream_gene_variant COAD-US 2 74734776 74734776 deletion of <=200bp C - frameshift_variant G7 COAD-US 2 74734776 74734776 deletion of <=200bp C - upstream_gene_variant COAD-US 2 74734792 74734792 single base substitution C T missense_variant A2T 4G>A COAD-US 2 74734792 74734792 single base substitution C T upstream_gene_variant COCA-CN 2 74733292 74733292 single base substitution G A downstream_gene_variant COCA-CN 2 74733292 74733292 single base substitution G A intron_variant COCA-CN 2 74733292 74733292 single base substitution G A upstream_gene_variant EOPC-DE 2 74737661 74737661 single base substitution T A upstream_gene_variant ESAD-UK 2 74727481 74727481 single base substitution C G downstream_gene_variant ESAD-UK 2 74729728 74729728 single base substitution G A downstream_gene_variant ESAD-UK 2 74730498 74730498 single base substitution C G downstream_gene_variant ESAD-UK 2 74731425 74731425 single base substitution G C downstream_gene_variant ESAD-UK 2 74733420 74733420 single base substitution C T downstream_gene_variant ESAD-UK 2 74733420 74733420 single base substitution C T intron_variant ESAD-UK 2 74733420 74733420 single base substitution C T upstream_gene_variant ESAD-UK 2 74734542 74734542 single base substitution C T exon_variant ESAD-UK 2 74734542 74734542 single base substitution C T intron_variant ESAD-UK 2 74734542 74734542 single base substitution C T upstream_gene_variant ESAD-UK 2 74735015 74735015 single base substitution C G 5_prime_UTR_variant ESAD-UK 2 74735015 74735015 single base substitution C G upstream_gene_variant ESAD-UK 2 74735343 74735343 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 74735343 74735343 single base substitution G A upstream_gene_variant ESAD-UK 2 74735393 74735393 insertion of <=200bp - G 5_prime_UTR_variant ESAD-UK 2 74735393 74735393 insertion of <=200bp - G upstream_gene_variant ESAD-UK 2 74736754 74736754 single base substitution T G upstream_gene_variant ESAD-UK 2 74736950 74736950 single base substitution G C upstream_gene_variant ESAD-UK 2 74737038 74737038 single base substitution G C upstream_gene_variant ESAD-UK 2 74737392 74737392 single base substitution G A upstream_gene_variant ESAD-UK 2 74737456 74737456 single base substitution G C upstream_gene_variant ESAD-UK 2 74737651 74737651 single base substitution A T upstream_gene_variant ESAD-UK 2 74739026 74739026 single base substitution G T upstream_gene_variant ESCA-CN 2 74732735 74732735 single base substitution C T downstream_gene_variant ESCA-CN 2 74732735 74732735 single base substitution C T exon_variant ESCA-CN 2 74732735 74732735 single base substitution C T missense_variant E199K 595G>A ESCA-CN 2 74733081 74733081 single base substitution C G downstream_gene_variant ESCA-CN 2 74733081 74733081 single base substitution C G intron_variant ESCA-CN 2 74733081 74733081 single base substitution C G splice_region_variant ESCA-CN 2 74733081 74733081 single base substitution C G upstream_gene_variant ESCA-CN 2 74734984 74734984 deletion of <=200bp G - 5_prime_UTR_variant ESCA-CN 2 74734984 74734984 deletion of <=200bp G - upstream_gene_variant GBM-US 2 74729804 74729804 single base substitution G A downstream_gene_variant KIRC-US 2 74732306 74732306 single base substitution C T downstream_gene_variant KIRC-US 2 74732306 74732306 single base substitution C T exon_variant KIRC-US 2 74732306 74732306 single base substitution C T synonymous_variant L248L 744G>A LICA-CN 2 74732731 74732731 single base substitution A T downstream_gene_variant LICA-CN 2 74732731 74732731 single base substitution A T exon_variant LICA-CN 2 74732731 74732731 single base substitution A T missense_variant V200E 599T>A LICA-CN 2 74732879 74732879 single base substitution A T downstream_gene_variant LICA-CN 2 74732879 74732879 single base substitution A T exon_variant LICA-CN 2 74732879 74732879 single base substitution A T missense_variant N183K 549T>A LICA-CN 2 74732879 74732879 single base substitution A T upstream_gene_variant LICA-FR 2 74728939 74728939 single base substitution G C downstream_gene_variant LICA-FR 2 74733165 74733170 deletion of <=200bp GAGGTT - downstream_gene_variant LICA-FR 2 74733165 74733170 deletion of <=200bp GAGGTT - exon_variant LICA-FR 2 74733165 74733170 deletion of <=200bp GAGGTT - inframe_deletion NL147 LICA-FR 2 74733165 74733170 deletion of <=200bp GAGGTT - intron_variant LICA-FR 2 74733165 74733170 deletion of <=200bp GAGGTT - upstream_gene_variant LICA-FR 2 74739674 74739674 single base substitution C T upstream_gene_variant LINC-JP 2 74729715 74729715 single base substitution C G downstream_gene_variant LINC-JP 2 74732189 74732189 single base substitution T C 3_prime_UTR_variant LINC-JP 2 74732189 74732189 single base substitution T C downstream_gene_variant LINC-JP 2 74732189 74732189 single base substitution T C exon_variant LINC-JP 2 74732223 74732223 single base substitution A C 3_prime_UTR_variant LINC-JP 2 74732223 74732223 single base substitution A C downstream_gene_variant LINC-JP 2 74732223 74732223 single base substitution A C exon_variant LINC-JP 2 74732309 74732309 single base substitution A G downstream_gene_variant LINC-JP 2 74732309 74732309 single base substitution A G exon_variant LINC-JP 2 74732309 74732309 single base substitution A G synonymous_variant P247P 741T>C LINC-JP 2 74732432 74732445 deletion of <=200bp GGGGTGTGATCCCA - downstream_gene_variant LINC-JP 2 74732432 74732445 deletion of <=200bp GGGGTGTGATCCCA - exon_variant LINC-JP 2 74732432 74732445 deletion of <=200bp GGGGTGTGATCCCA - intron_variant LINC-JP 2 74733154 74733154 single base substitution A C downstream_gene_variant LINC-JP 2 74733154 74733154 single base substitution A C exon_variant LINC-JP 2 74733154 74733154 single base substitution A C intron_variant LINC-JP 2 74733154 74733154 single base substitution A C missense_variant F152C 455T>G LINC-JP 2 74733154 74733154 single base substitution A C upstream_gene_variant LINC-JP 2 74733160 74733160 single base substitution A G downstream_gene_variant LINC-JP 2 74733160 74733160 single base substitution A G exon_variant LINC-JP 2 74733160 74733160 single base substitution A G intron_variant LINC-JP 2 74733160 74733160 single base substitution A G missense_variant L150P 449T>C LINC-JP 2 74733160 74733160 single base substitution A G upstream_gene_variant LINC-JP 2 74734134 74734134 single base substitution G T intron_variant LINC-JP 2 74734134 74734134 single base substitution G T upstream_gene_variant LINC-JP 2 74737391 74737391 single base substitution C T upstream_gene_variant LIRI-JP 2 74728203 74728203 single base substitution G A downstream_gene_variant LIRI-JP 2 74729776 74729776 single base substitution A G downstream_gene_variant LIRI-JP 2 74731213 74731213 single base substitution C T downstream_gene_variant LIRI-JP 2 74733441 74733441 single base substitution A C downstream_gene_variant LIRI-JP 2 74733441 74733441 single base substitution A C intron_variant LIRI-JP 2 74733441 74733441 single base substitution A C upstream_gene_variant LIRI-JP 2 74739633 74739633 single base substitution C T upstream_gene_variant LUSC-KR 2 74731278 74731278 single base substitution C T downstream_gene_variant LUSC-KR 2 74736826 74736826 single base substitution G A upstream_gene_variant LUSC-KR 2 74737667 74737667 single base substitution A G upstream_gene_variant MALY-DE 2 74731690 74731690 single base substitution T G downstream_gene_variant MALY-DE 2 74733968 74733968 single base substitution G A exon_variant MALY-DE 2 74733968 74733968 single base substitution G A synonymous_variant Y81Y 243C>T MALY-DE 2 74733968 74733968 single base substitution G A upstream_gene_variant MELA-AU 2 74727281 74727281 single base substitution C T downstream_gene_variant MELA-AU 2 74727782 74727782 single base substitution G A downstream_gene_variant MELA-AU 2 74728817 74728817 single base substitution C T downstream_gene_variant MELA-AU 2 74728914 74728914 single base substitution G A downstream_gene_variant MELA-AU 2 74729405 74729405 single base substitution G A downstream_gene_variant MELA-AU 2 74730231 74730231 single base substitution C T downstream_gene_variant MELA-AU 2 74731510 74731510 single base substitution C T downstream_gene_variant MELA-AU 2 74732718 74732719 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 74732718 74732719 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 74732718 74732719 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant R204Q 611GG>AA MELA-AU 2 74733301 74733301 single base substitution G A downstream_gene_variant MELA-AU 2 74733301 74733301 single base substitution G A intron_variant MELA-AU 2 74733301 74733301 single base substitution G A splice_region_variant MELA-AU 2 74733301 74733301 single base substitution G A upstream_gene_variant MELA-AU 2 74733311 74733312 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 74733311 74733312 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 74733311 74733312 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 74733311 74733312 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant GE140GK MELA-AU 2 74733311 74733312 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74733427 74733427 single base substitution G A downstream_gene_variant MELA-AU 2 74733427 74733427 single base substitution G A intron_variant MELA-AU 2 74733427 74733427 single base substitution G A upstream_gene_variant MELA-AU 2 74734824 74734824 single base substitution C T 5_prime_UTR_variant MELA-AU 2 74734824 74734824 single base substitution C T upstream_gene_variant MELA-AU 2 74735364 74735364 single base substitution C T 5_prime_UTR_variant MELA-AU 2 74735364 74735364 single base substitution C T upstream_gene_variant MELA-AU 2 74736465 74736465 single base substitution G A upstream_gene_variant MELA-AU 2 74736795 74736796 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 74737189 74737189 single base substitution G A upstream_gene_variant MELA-AU 2 74737315 74737315 single base substitution G A upstream_gene_variant MELA-AU 2 74737417 74737417 single base substitution G A upstream_gene_variant MELA-AU 2 74737506 74737506 single base substitution G A upstream_gene_variant MELA-AU 2 74738146 74738146 single base substitution C T upstream_gene_variant MELA-AU 2 74738391 74738391 single base substitution C T upstream_gene_variant MELA-AU 2 74738699 74738699 single base substitution G A upstream_gene_variant MELA-AU 2 74738975 74738975 single base substitution C T upstream_gene_variant MELA-AU 2 74738992 74738992 single base substitution G A upstream_gene_variant MELA-AU 2 74739069 74739069 single base substitution C T upstream_gene_variant MELA-AU 2 74739277 74739277 single base substitution C T upstream_gene_variant MELA-AU 2 74739286 74739286 single base substitution C T upstream_gene_variant MELA-AU 2 74739420 74739420 single base substitution G A upstream_gene_variant MELA-AU 2 74739992 74739992 single base substitution C T upstream_gene_variant MELA-AU 2 74740644 74740644 single base substitution C T upstream_gene_variant ORCA-IN 2 74733293 74733293 single base substitution C T downstream_gene_variant ORCA-IN 2 74733293 74733293 single base substitution C T intron_variant ORCA-IN 2 74733293 74733293 single base substitution C T upstream_gene_variant PACA-AU 2 74730474 74730474 single base substitution C T downstream_gene_variant PACA-AU 2 74731372 74731374 deletion of <=200bp GCT - downstream_gene_variant PACA-AU 2 74738711 74738711 single base substitution C G upstream_gene_variant PACA-AU 2 74739858 74739858 single base substitution G A upstream_gene_variant PACA-CA 2 74727554 74727554 single base substitution C G downstream_gene_variant PACA-CA 2 74727653 74727653 single base substitution G A downstream_gene_variant PACA-CA 2 74731355 74731355 single base substitution G T downstream_gene_variant PACA-CA 2 74733167 74733167 single base substitution G C downstream_gene_variant PACA-CA 2 74733167 74733167 single base substitution G C exon_variant PACA-CA 2 74733167 74733167 single base substitution G C intron_variant PACA-CA 2 74733167 74733167 single base substitution G C missense_variant L148V 442C>G PACA-CA 2 74733167 74733167 single base substitution G C upstream_gene_variant PACA-CA 2 74735268 74735268 single base substitution T G 5_prime_UTR_variant PACA-CA 2 74735268 74735268 single base substitution T G upstream_gene_variant PACA-CA 2 74735392 74735392 insertion of <=200bp - G 5_prime_UTR_variant PACA-CA 2 74735392 74735392 insertion of <=200bp - G upstream_gene_variant PACA-CA 2 74738354 74738354 single base substitution A G upstream_gene_variant PACA-CA 2 74738367 74738367 single base substitution A C upstream_gene_variant PACA-CA 2 74738579 74738579 single base substitution G C upstream_gene_variant PBCA-DE 2 74739030 74739030 insertion of <=200bp - TTGT upstream_gene_variant PRAD-UK 2 74729727 74729727 single base substitution G T downstream_gene_variant RECA-EU 2 74728130 74728130 single base substitution A C downstream_gene_variant SKCA-BR 2 74727908 74727908 single base substitution A C downstream_gene_variant SKCA-BR 2 74736225 74736225 single base substitution A T upstream_gene_variant SKCA-BR 2 74737524 74737525 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 2 74738050 74738050 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 74739559 74739559 single base substitution T G upstream_gene_variant SKCA-BR 2 74740336 74740336 single base substitution A C upstream_gene_variant STAD-US 2 74729922 74729924 deletion of <=200bp CCT - downstream_gene_variant STAD-US 2 74732900 74732900 deletion of <=200bp G - downstream_gene_variant STAD-US 2 74732900 74732900 deletion of <=200bp G - splice_region_variant STAD-US 2 74732900 74732900 deletion of <=200bp G - upstream_gene_variant STAD-US 2 74733085 74733085 single base substitution C T downstream_gene_variant STAD-US 2 74733085 74733085 single base substitution C T exon_variant STAD-US 2 74733085 74733085 single base substitution C T intron_variant STAD-US 2 74733085 74733085 single base substitution C T missense_variant R175Q 524G>A STAD-US 2 74733085 74733085 single base substitution C T upstream_gene_variant UCEC-US 2 74732873 74732873 single base substitution G A downstream_gene_variant UCEC-US 2 74732873 74732873 single base substitution G A exon_variant UCEC-US 2 74732873 74732873 single base substitution G A synonymous_variant S185S 555C>T UCEC-US 2 74732873 74732873 single base substitution G A upstream_gene_variant UCEC-US 2 74732873 74732873 single base substitution G T downstream_gene_variant UCEC-US 2 74732873 74732873 single base substitution G T exon_variant UCEC-US 2 74732873 74732873 single base substitution G T missense_variant S185R 555C>A UCEC-US 2 74732873 74732873 single base substitution G T upstream_gene_variant UCEC-US 2 74733345 74733345 single base substitution G A downstream_gene_variant UCEC-US 2 74733345 74733345 single base substitution G A exon_variant UCEC-US 2 74733345 74733345 single base substitution G A intron_variant UCEC-US 2 74733345 74733345 single base substitution G A synonymous_variant S129S 387C>T UCEC-US 2 74733345 74733345 single base substitution G A upstream_gene_variant UCEC-US 2 74733892 74733892 single base substitution T C exon_variant UCEC-US 2 74733892 74733892 single base substitution T C missense_variant I107V 319A>G UCEC-US 2 74733892 74733892 single base substitution T C upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUPLA COSM5397435 c.460G>A p.D154N Substitution - Missense 2:74505986-74505986 - TCGA-F4-6809-01 COSM1409594 c.64G>T p.V22F Substitution - Missense 2:74507141-74507141 - HCT15 COSM1669082 c.391G>T p.G131C Substitution - Missense 2:74506214-74506214 - ESCC-139T COSM3939173 c.559G>A p.E187K Substitution - Missense 2:74505608-74505608 - HCC139T COSM5823114 c.549T>A p.N183K Substitution - Missense 2:74505752-74505752 - 2530678 COSM5885878 c.506_507delTG p.L169fs*1 Deletion - Frameshift 2:74505975-74505976 - LC_C28 COSM1185950 c.407T>G p.L136R Substitution - Missense 2:74506039-74506039 - HCC147T COSM5811580 c.599T>A p.V200E Substitution - Missense 2:74505604-74505604 - TCGA-B0-5121-01 COSM4857961 c.744G>A p.L248L Substitution - coding silent 2:74505179-74505179 - cSCCP1 COSM134028 c.55G>A p.E19K Substitution - Missense 2:74507578-74507578 - CSCC-44-T COSM4479042 c.192C>T p.L64L Substitution - coding silent 2:74506856-74506856 - HCT-15 COSM1669083 c.355G>T p.G119C Substitution - Missense 2:74506214-74506214 - HCT15 COSM1669083 c.355G>T p.G119C Substitution - Missense 2:74506214-74506214 - CSCC-15-T COSM4506307 c.680C>A p.S227Y Substitution - Missense 2:74505355-74505355 - TCGA-AM-5820-01 COSM3695613 c.485A>G p.Y162C Substitution - Missense 2:74505997-74505997 - BCM689T COSM5347714 c.439_444delAACCTC p.N147_L148delNL Deletion - In frame 2:74506038-74506043 - TCGA-F4-6809-01 COSM4785001 c.100G>T p.V34F Substitution - Missense 2:74507141-74507141 - HCC133T COSM1615119 c.741T>C p.P247P Substitution - coding silent 2:74505182-74505182 - HCT-15 COSM1669082 c.391G>T p.G131C Substitution - Missense 2:74506214-74506214 - TCGA-B5-A11E-01 COSM1023028 c.519C>T p.S173S Substitution - coding silent 2:74505746-74505746 - TCGA-FP-A4BE-01 COSM4095792 c.488G>A p.R163Q Substitution - Missense 2:74505958-74505958 - SNUH_G26_S1 COSM3682694 c.530+4A>G p.? Unknown 2:74505948-74505948 - ESCC_136 COSM5643034 c.617T>G p.V206G Substitution - Missense 2:74505418-74505418 - HCC98 COSM1615124 c.413T>C p.L138P Substitution - Missense 2:74506033-74506033 - BD189T COSM5508279 c.293T>G p.L98R Substitution - Missense 2:74506791-74506791 - ACINAR29 COSM1735368 c.524T>C p.L175P Substitution - Missense 2:74505741-74505741 - HCC98T COSM1615122 c.419T>G p.F140C Substitution - Missense 2:74506027-74506027 - HCC147T COSM5811581 c.563T>A p.V188E Substitution - Missense 2:74505604-74505604 - TCGA-AC-A23H-01 COSM3840052 c.420C>T p.F140F Substitution - coding silent 2:74506026-74506026 - CSCC-29-T COSM4453001 c.23A>T p.Q8L Substitution - Missense 2:74507646-74507646 - HCC133 COSM1615120 c.705T>C p.P235P Substitution - coding silent 2:74505182-74505182 - TCGA-FP-A4BE-01 COSM4095791 c.524G>A p.R175Q Substitution - Missense 2:74505958-74505958 - CSCC-42-T COSM4566713 c.415_416CC>TT p.P139F Substitution - Missense 2:74506030-74506031 - tumor_4107137 COSM3357609 c.243C>T p.Y81Y Substitution - coding silent 2:74506841-74506841 - TCGA-IR-A3LA-01 COSM3939172 c.595G>A p.E199K Substitution - Missense 2:74505608-74505608 - TCGA-A5-A0GA-01 COSM1023030 c.283A>G p.I95V Substitution - Missense 2:74506765-74506765 - SC_9081 COSM5551381 c.246C>T p.C82C Substitution - coding silent 2:74506838-74506838 - DLD1 COSM4624870 c.206A>G p.Y69C Substitution - Missense 2:74506842-74506842 - LUAD-YINHD COSM350671 c.252C>G p.L84L Substitution - coding silent 2:74506796-74506796 - HCC98 COSM1615121 c.455T>G p.F152C Substitution - Missense 2:74506027-74506027 - ZZUFHECRKL-G023T COSM5435546 c.528G>C p.L176L Substitution - coding silent 2:74505954-74505954 - B81-2 COSM1752673 c.51C>A p.N17K Substitution - Missense 2:74507618-74507618 - ESCC_136 COSM5643033 c.653T>G p.V218G Substitution - Missense 2:74505418-74505418 - TCGA-B0-5121-01 COSM477649 c.708G>A p.L236L Substitution - coding silent 2:74505179-74505179 - DN14065 COSM5962787 c.56-9T>C p.? Unknown 2:74507158-74507158 - H1993 COSM1196812 c.518G>A p.S173N Substitution - Missense 2:74505747-74505747 - TCGA-AC-A23H-01 COSM3840051 c.456C>T p.F152F Substitution - coding silent 2:74506026-74506026 - CSCC-15-T COSM4465789 c.13C>T p.Q5* Substitution - Nonsense 2:74507656-74507656 - TCGA-IR-A3LA-01 COSM3939173 c.559G>A p.E187K Substitution - Missense 2:74505608-74505608 - TCGA-AP-A0LT-01 COSM1651342 c.387C>T p.S129S Substitution - coding silent 2:74506218-74506218 - ACINAR29 COSM1735369 c.118G>C p.D40H Substitution - Missense 2:74507123-74507123 - ACINAR29 COSM1735367 c.560T>C p.L187P Substitution - Missense 2:74505741-74505741 - ZZUFHECRKL-G023T COSM5435547 c.492G>C p.L164L Substitution - coding silent 2:74505954-74505954 - 2530678 COSM5885879 c.470_471delTG p.L157fs*1 Deletion - Frameshift 2:74505975-74505976 - cSCCP5 COSM143600 c.416_417CC>TT p.P139L Substitution - Missense 2:74506029-74506030 - TCGA-B5-A11E-01 COSM1592430 c.555C>T p.S185S Substitution - coding silent 2:74505746-74505746 - ESO-752 COSM1261517 c.505G>C p.D169H Substitution - Missense 2:74505760-74505760 - TCGA-AM-5820-01 COSM3695614 c.449A>G p.Y150C Substitution - Missense 2:74505997-74505997 - HCC98T COSM1615123 c.449T>C p.L150P Substitution - Missense 2:74506033-74506033 - HCC139T COSM5823115 c.513T>A p.N171K Substitution - Missense 2:74505752-74505752 - TCGA-24-2019-01 COSM72108 c.508A>G p.K170E Substitution - Missense 2:74505757-74505757 - SNUH_G26_S1 COSM3682695 c.494+4A>G p.? Unknown 2:74505948-74505948 - DLD1 COSM1669083 c.355G>T p.G119C Substitution - Missense 2:74506214-74506214 - HCC133T COSM1615120 c.705T>C p.P235P Substitution - coding silent 2:74505182-74505182 - B81-1-Tumor COSM3933686 c.706A>C p.I236L Substitution - Missense 2:74505365-74505365 - BD189T COSM5508280 c.257T>G p.L86R Substitution - Missense 2:74506791-74506791 - CSCC-44-T COSM4479041 c.228C>T p.L76L Substitution - coding silent 2:74506856-74506856 - TCGA-AP-A0LT-01 COSM1023029 c.351C>T p.S117S Substitution - coding silent 2:74506218-74506218 - B81-1-Tumor COSM3933687 c.670A>C p.I224L Substitution - Missense 2:74505365-74505365 - LUAD-S01315 COSM345361 c.399G>A p.L133L Substitution - coding silent 2:74506047-74506047 - TCGA-A7-A26E-01 COSM4812881 c.180C>T p.I60I Substitution - coding silent 2:74507061-74507061 - CSCC-15-T COSM4506306 c.716C>A p.S239Y Substitution - Missense 2:74505355-74505355 - SC_9081 COSM5551382 c.210C>T p.C70C Substitution - coding silent 2:74506838-74506838 - HCC98T COSM1615121 c.455T>G p.F152C Substitution - Missense 2:74506027-74506027 - T45 COSM1177529 c.390G>T p.E130D Substitution - Missense 2:74506056-74506056 - BCM689T COSM5347715 c.403_408delAACCTC p.N135_L136delNL Deletion - In frame 2:74506038-74506043 - YUPLA COSM5397434 c.496G>A p.D166N Substitution - Missense 2:74505986-74505986 - CSCC-37-T COSM4550741 c.507G>T p.L169F Substitution - Missense 2:74505975-74505975 - HCC98 COSM1615122 c.419T>G p.F140C Substitution - Missense 2:74506027-74506027 - TCGA-AX-A05Z-01 COSM1592431 c.555C>A p.S185R Substitution - Missense 2:74505746-74505746 - CSCC-37-T COSM4550742 c.471G>T p.L157F Substitution - Missense 2:74505975-74505975 - DLD1 COSM1669082 c.391G>T p.G131C Substitution - Missense 2:74506214-74506214 - HCC98T COSM1615124 c.413T>C p.L138P Substitution - Missense 2:74506033-74506033 - DLD1 COSM4624869 c.242A>G p.Y81C Substitution - Missense 2:74506842-74506842 - tumor_4107137 COSM3357610 c.207C>T p.Y69Y Substitution - coding silent 2:74506841-74506841 - TCGA-A5-A0GA-01 COSM1651341 c.319A>G p.I107V Substitution - Missense 2:74506765-74506765 - HCC98 COSM1615123 c.449T>C p.L150P Substitution - Missense 2:74506033-74506033 - TCGA-AX-A05Z-01 COSM1023027 c.519C>A p.S173R Substitution - Missense 2:74505746-74505746 - TCGA-AM-5820-01 COSM5134533 c.20delG p.G7fs*7 Deletion - Frameshift 2:74507649-74507649 - ESCC-139T COSM3939172 c.595G>A p.E199K Substitution - Missense 2:74505608-74505608 - TCGA-A7-A26E-01 COSM1483279 c.144C>T p.I48I Substitution - coding silent 2:74507061-74507061 - TCGA-G4-6628-01 COSM1409595 c.4G>A p.A2T Substitution - Missense 2:74507665-74507665 - B81-2 COSM1752674 c.15C>A p.N5K Substitution - Missense 2:74507618-74507618 - HCC133 COSM1615119 c.741T>C p.P247P Substitution - coding silent 2:74505182-74505182 - ACINAR29 COSM1735370 c.82G>C p.D28H Substitution - Missense 2:74507123-74507123 - CSCC-42-T COSM4566712 c.451_452CC>TT p.P151F Substitution - Missense 2:74506030-74506031 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.316750 2p13.1 610231

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CC TT Missense p.E141K c.420_421delinsAA 2 74733311 CM C G Missense p.D181H c.541G>C 2 74732887 ESCA C T Synonymous p.K37K c.111G>A 2 74734257 CM C T Synonymous p.L169L c.507G>A 2 74733102 HNSC C T Synonymous p.L248L c.744G>A 2 74732306 RCCC C T Synonymous p.V73V c.219G>A 2 74733992 LUAD G A Synonymous p.I60I c.180C>T 2 74734188 BRCA G A Synonymous p.S129S c.387C>T 2 74733345 UCEC T C Missense p.I107V c.319A>G 2 74733892 UCEC T C Missense p.K182E c.544A>G 2 74732884 OV T C SpliceAcceptorSNV . c.200-2A>G 2 74734013 HNSC