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 ACC 4 2757800 2757800 + Missense_Mutation SNP G G C TCGA-OR-A5JI-01A-11D-A29I-10 TCGA-OR-A5JI-10A-01D-A29L-10 g.chr4:2757800G>C c.217C>G c.(217-219)Cgc>Ggc p.R73G ACC 4 2757800 2757800 + Missense_Mutation SNP G G C TCGA-OR-A5KV-01A-11D-A29I-10 TCGA-OR-A5KV-10A-01D-A29L-10 g.chr4:2757800G>C c.217C>G c.(217-219)Cgc>Ggc p.R73G ACC 4 2757800 2757800 + Missense_Mutation SNP G G C TCGA-OR-A5KW-01A-11D-A29I-10 TCGA-OR-A5KW-10A-01D-A29L-10 g.chr4:2757800G>C c.217C>G c.(217-219)Cgc>Ggc p.R73G ACC 4 2757800 2757800 + Missense_Mutation SNP G G C TCGA-P6-A5OH-01A-11D-A30A-10 TCGA-P6-A5OH-11A-01D-A30A-10 g.chr4:2757800G>C c.217C>G c.(217-219)Cgc>Ggc p.R73G ACC 4 2757800 2757800 + Missense_Mutation SNP G G C TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr4:2757800G>C c.217C>G c.(217-219)Cgc>Ggc p.R73G BLCA 4 2744064 2744064 + Missense_Mutation SNP G G T TCGA-UY-A9PH-01A-11D-A38G-08 TCGA-UY-A9PH-10A-01D-A38J-08 g.chr4:2744064G>T c.1210C>A c.(1210-1212)Cag>Aag p.Q404K BLCA 4 2744229 2744229 + Missense_Mutation SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr4:2744229C>T c.1045G>A c.(1045-1047)Gcc>Acc p.A349T BLCA 4 2746179 2746179 + Missense_Mutation SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr4:2746179G>C c.961C>G c.(961-963)Caa>Gaa p.Q321E BLCA 4 2746181 2746181 + Missense_Mutation SNP G G T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr4:2746181G>T c.959C>A c.(958-960)gCt>gAt p.A320D BLCA 4 2746230 2746230 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr4:2746230G>A c.910C>T c.(910-912)Ctc>Ttc p.L304F BLCA 4 2746669 2746669 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr4:2746669C>T c.661G>A c.(661-663)Gaa>Aaa p.E221K BRCA 4 2744011 2744011 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:2744011G>A c.1263C>T c.(1261-1263)ctC>ctT p.L421L BRCA 4 2744211 2744211 + Missense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr4:2744211C>T c.1063G>A c.(1063-1065)Ggg>Agg p.G355R BRCA 4 2747221 2747221 + Silent SNP A A T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr4:2747221A>T c.609T>A c.(607-609)atT>atA p.I203I BRCA 4 2749581 2749581 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr4:2749581A>C c.368T>G c.(367-369)gTc>gGc p.V123G COAD 4 2746603 2746603 + Missense_Mutation SNP C C T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr4:2746603C>T c.727G>A c.(727-729)Gcg>Acg p.A243T COAD 4 2749425 2749425 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:2749425C>T c.524G>A c.(523-525)cGa>cAa p.R175Q COAD 4 2749534 2749534 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:2749534C>T c.415G>A c.(415-417)Gcc>Acc p.A139T COADREAD 4 2744248 2744248 + Splice_Site SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr4:2744248C>T c.e6-1 COADREAD 4 2746603 2746603 + Missense_Mutation SNP C C T TCGA-A6-2678-01A-01W-0831-10 TCGA-A6-2678-10A-01W-0831-10 g.chr4:2746603C>T c.727G>A c.(727-729)Gcg>Acg p.A243T COADREAD 4 2749425 2749425 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:2749425C>T c.524G>A c.(523-525)cGa>cAa p.R175Q COADREAD 4 2749534 2749534 + Missense_Mutation SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:2749534C>T c.415G>A c.(415-417)Gcc>Acc p.A139T COADREAD 4 2749534 2749534 + Missense_Mutation SNP C C T TCGA-AG-3901-01A-01W-1073-09 TCGA-AG-3901-10A-01W-1073-09 g.chr4:2749534C>T c.415G>A c.(415-417)Gcc>Acc p.A139T GBMLGG 4 2749465 2749465 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:2749465C>T c.484G>A c.(484-486)Gcc>Acc p.A162T HNSC 4 2746144 2746144 + Silent SNP G G A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr4:2746144G>A c.996C>T c.(994-996)gcC>gcT p.A332A HNSC 4 2746559 2746559 + Missense_Mutation SNP C C T TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr4:2746559C>T c.771G>A c.(769-771)atG>atA p.M257I HNSC 4 2746661 2746661 + Silent SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr4:2746661G>C c.669C>G c.(667-669)ctC>ctG p.L223L HNSC 4 2757795 2757795 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr4:2757795G>A c.222C>T c.(220-222)ttC>ttT p.F74F KIPAN 4 2746482 2746482 + Missense_Mutation SNP G G A TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr4:2746482G>A c.848C>T c.(847-849)gCg>gTg p.A283V KIRP 4 2746482 2746482 + Missense_Mutation SNP G G A TCGA-A4-8310-01A-11D-2396-08 TCGA-A4-8310-10A-01D-2396-08 g.chr4:2746482G>A c.848C>T c.(847-849)gCg>gTg p.A283V LGG 4 2749465 2749465 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:2749465C>T c.484G>A c.(484-486)Gcc>Acc p.A162T LIHC 4 2746185 2746185 + Missense_Mutation SNP G G A TCGA-DD-AAD1-01A-11D-A40R-10 TCGA-DD-AAD1-10A-01D-A40U-10 g.chr4:2746185G>A c.955C>T c.(955-957)Cgg>Tgg p.R319W LIHC 4 2746449 2746449 + Missense_Mutation SNP T T C TCGA-DD-A3A1-01A-11D-A20W-10 TCGA-DD-A3A1-11A-11D-A20W-10 g.chr4:2746449T>C c.881A>G c.(880-882)gAg>gGg p.E294G LIHC 4 2749527 2749527 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr4:2749527T>C c.422A>G c.(421-423)gAc>gGc p.D141G LIHC 4 2749657 2749657 + Missense_Mutation SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr4:2749657T>C c.292A>G c.(292-294)Act>Gct p.T98A LUAD 4 2746465 2746465 + Missense_Mutation SNP G G C TCGA-44-7667-01A-31D-2063-08 TCGA-44-7667-10A-01D-2063-08 g.chr4:2746465G>C c.865C>G c.(865-867)Cgg>Ggg p.R289G LUAD 4 2757762 2757762 + Silent SNP G G A TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr4:2757762G>A c.255C>T c.(253-255)gcC>gcT p.A85A LUAD 4 2757801 2757801 + Silent SNP C C G TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr4:2757801C>G c.216G>C c.(214-216)gcG>gcC p.A72A LUSC 4 2746619 2746619 + Silent SNP G G A TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr4:2746619G>A c.711C>T c.(709-711)taC>taT p.Y237Y LUSC 4 2749604 2749604 + Silent SNP G G C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 g.chr4:2749604G>C c.345C>G c.(343-345)ccC>ccG p.P115P PAAD 4 2747209 2747209 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:2747209C>A c.621G>T c.(619-621)caG>caT p.Q207H PRAD 4 2749522 2749522 + Missense_Mutation SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:2749522G>T c.427C>A c.(427-429)Ctg>Atg p.L143M READ 4 2744248 2744248 + Splice_Site SNP C C T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr4:2744248C>T c.e6-1 READ 4 2749534 2749534 + Missense_Mutation SNP C C T TCGA-AG-3901-01A-01W-1073-09 TCGA-AG-3901-10A-01W-1073-09 g.chr4:2749534C>T c.415G>A c.(415-417)Gcc>Acc p.A139T SKCM 4 2744022 2744022 + Nonsense_Mutation SNP C C A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr4:2744022C>A c.1252G>T c.(1252-1254)Gaa>Taa p.E418* SKCM 4 2746545 2746545 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:2746545G>A c.785C>T c.(784-786)tCc>tTc p.S262F SKCM 4 2746568 2746568 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr4:2746568G>A c.762C>T c.(760-762)ccC>ccT p.P254P SKCM 4 2746569 2746569 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr4:2746569G>A c.761C>T c.(760-762)cCc>cTc p.P254L SKCM 4 2746636 2746636 + Missense_Mutation SNP C C T TCGA-DA-A1I7-06A-22D-A197-08 TCGA-DA-A1I7-10A-01D-A199-08 g.chr4:2746636C>T c.694G>A c.(694-696)Gcc>Acc p.A232T SKCM 4 2747233 2747233 + Silent SNP G G A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:2747233G>A c.597C>T c.(595-597)gtC>gtT p.V199V SKCM 4 2749475 2749475 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:2749475C>T c.474G>A c.(472-474)ctG>ctA p.L158L

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 4 2749492 2749492 single base substitution G A exon_variant BLCA-CN 4 2749492 2749492 single base substitution G A stop_gained Q153* 457C>T BLCA-CN 4 2749492 2749492 single base substitution G A stop_gained Q46* 136C>T BLCA-CN 4 2749492 2749492 single base substitution G A upstream_gene_variant BLCA-CN 4 2749545 2749545 single base substitution C T exon_variant BLCA-CN 4 2749545 2749545 single base substitution C T missense_variant R135H 404G>A BLCA-CN 4 2749545 2749545 single base substitution C T missense_variant R28H 83G>A BLCA-CN 4 2749545 2749545 single base substitution C T upstream_gene_variant BLCA-CN 4 2749580 2749580 single base substitution G A exon_variant BLCA-CN 4 2749580 2749580 single base substitution G A synonymous_variant V123V 369C>T BLCA-CN 4 2749580 2749580 single base substitution G A synonymous_variant V16V 48C>T BLCA-CN 4 2749580 2749580 single base substitution G A upstream_gene_variant BLCA-US 4 2746230 2746230 single base substitution G A downstream_gene_variant BLCA-US 4 2746230 2746230 single base substitution G A exon_variant BLCA-US 4 2746230 2746230 single base substitution G A missense_variant L197F 589C>T BLCA-US 4 2746230 2746230 single base substitution G A missense_variant L221F 661C>T BLCA-US 4 2746230 2746230 single base substitution G A missense_variant L304F 910C>T BLCA-US 4 2746669 2746669 single base substitution C T downstream_gene_variant BLCA-US 4 2746669 2746669 single base substitution C T exon_variant BLCA-US 4 2746669 2746669 single base substitution C T intron_variant BLCA-US 4 2746669 2746669 single base substitution C T missense_variant E114K 340G>A BLCA-US 4 2746669 2746669 single base substitution C T missense_variant E221K 661G>A BLCA-US 4 2746669 2746669 single base substitution C T upstream_gene_variant BRCA-EU 4 2739743 2739743 single base substitution C T downstream_gene_variant BRCA-EU 4 2741587 2741587 single base substitution G A downstream_gene_variant BRCA-EU 4 2744178 2744178 single base substitution C T downstream_gene_variant BRCA-EU 4 2744178 2744178 single base substitution C T exon_variant BRCA-EU 4 2744178 2744178 single base substitution C T missense_variant A259T 775G>A BRCA-EU 4 2744178 2744178 single base substitution C T missense_variant A283T 847G>A BRCA-EU 4 2744178 2744178 single base substitution C T missense_variant A366T 1096G>A BRCA-EU 4 2744581 2744581 single base substitution G C downstream_gene_variant BRCA-EU 4 2744581 2744581 single base substitution G C intron_variant BRCA-EU 4 2745449 2745449 single base substitution G C downstream_gene_variant BRCA-EU 4 2745449 2745449 single base substitution G C intron_variant BRCA-EU 4 2745477 2745477 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 2745477 2745477 deletion of <=200bp A - intron_variant BRCA-EU 4 2748165 2748165 single base substitution G A downstream_gene_variant BRCA-EU 4 2748165 2748165 single base substitution G A intron_variant BRCA-EU 4 2748165 2748165 single base substitution G A upstream_gene_variant BRCA-EU 4 2748662 2748662 single base substitution C T downstream_gene_variant BRCA-EU 4 2748662 2748662 single base substitution C T intron_variant BRCA-EU 4 2748662 2748662 single base substitution C T upstream_gene_variant BRCA-EU 4 2749922 2749922 single base substitution A T intron_variant BRCA-EU 4 2749922 2749922 single base substitution A T upstream_gene_variant BRCA-EU 4 2752759 2752759 single base substitution G A intron_variant BRCA-EU 4 2752759 2752759 single base substitution G A upstream_gene_variant BRCA-EU 4 2754475 2754475 deletion of <=200bp T - intron_variant BRCA-EU 4 2755571 2755571 single base substitution G A intron_variant BRCA-EU 4 2756210 2756210 single base substitution C G intron_variant BRCA-EU 4 2761366 2761366 single base substitution A G upstream_gene_variant BRCA-EU 4 2762555 2762556 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 4 2762686 2762686 single base substitution C T upstream_gene_variant BRCA-FR 4 2744581 2744581 single base substitution G C downstream_gene_variant BRCA-FR 4 2744581 2744581 single base substitution G C intron_variant BRCA-FR 4 2745449 2745449 single base substitution G C downstream_gene_variant BRCA-FR 4 2745449 2745449 single base substitution G C intron_variant BRCA-US 4 2744011 2744011 single base substitution G A downstream_gene_variant BRCA-US 4 2744011 2744011 single base substitution G A exon_variant BRCA-US 4 2744011 2744011 single base substitution G A synonymous_variant L314L 942C>T BRCA-US 4 2744011 2744011 single base substitution G A synonymous_variant L338L 1014C>T BRCA-US 4 2744011 2744011 single base substitution G A synonymous_variant L421L 1263C>T BRCA-US 4 2744211 2744211 single base substitution C T downstream_gene_variant BRCA-US 4 2744211 2744211 single base substitution C T exon_variant BRCA-US 4 2744211 2744211 single base substitution C T missense_variant G248R 742G>A BRCA-US 4 2744211 2744211 single base substitution C T missense_variant G272R 814G>A BRCA-US 4 2744211 2744211 single base substitution C T missense_variant G355R 1063G>A BRCA-US 4 2747221 2747221 single base substitution A T downstream_gene_variant BRCA-US 4 2747221 2747221 single base substitution A T exon_variant BRCA-US 4 2747221 2747221 single base substitution A T synonymous_variant I203I 609T>A BRCA-US 4 2747221 2747221 single base substitution A T synonymous_variant I96I 288T>A BRCA-US 4 2747221 2747221 single base substitution A T upstream_gene_variant BRCA-US 4 2749581 2749581 single base substitution A C exon_variant BRCA-US 4 2749581 2749581 single base substitution A C missense_variant V123G 368T>G BRCA-US 4 2749581 2749581 single base substitution A C missense_variant V16G 47T>G BRCA-US 4 2749581 2749581 single base substitution A C upstream_gene_variant BTCA-JP 4 2747312 2747312 single base substitution G C downstream_gene_variant BTCA-JP 4 2747312 2747312 single base substitution G C intron_variant BTCA-JP 4 2747312 2747312 single base substitution G C upstream_gene_variant CLLE-ES 4 2749274 2749274 single base substitution A G exon_variant CLLE-ES 4 2749274 2749274 single base substitution A G intron_variant CLLE-ES 4 2749274 2749274 single base substitution A G upstream_gene_variant COAD-US 4 2744087 2744087 single base substitution G A downstream_gene_variant COAD-US 4 2744087 2744087 single base substitution G A exon_variant COAD-US 4 2744087 2744087 single base substitution G A missense_variant A289V 866C>T COAD-US 4 2744087 2744087 single base substitution G A missense_variant A313V 938C>T COAD-US 4 2744087 2744087 single base substitution G A missense_variant A396V 1187C>T COAD-US 4 2746567 2746567 single base substitution C T downstream_gene_variant COAD-US 4 2746567 2746567 single base substitution C T exon_variant COAD-US 4 2746567 2746567 single base substitution C T intron_variant COAD-US 4 2746567 2746567 single base substitution C T missense_variant E148K 442G>A COAD-US 4 2746567 2746567 single base substitution C T missense_variant E255K 763G>A COCA-CN 4 2746520 2746520 single base substitution C A downstream_gene_variant COCA-CN 4 2746520 2746520 single base substitution C A exon_variant COCA-CN 4 2746520 2746520 single base substitution C A intron_variant COCA-CN 4 2746520 2746520 single base substitution C A missense_variant E163D 489G>T COCA-CN 4 2746520 2746520 single base substitution C A missense_variant E270D 810G>T COCA-CN 4 2746723 2746723 single base substitution C T downstream_gene_variant COCA-CN 4 2746723 2746723 single base substitution C T intron_variant COCA-CN 4 2746723 2746723 single base substitution C T upstream_gene_variant COCA-CN 4 2747147 2747147 single base substitution T C downstream_gene_variant COCA-CN 4 2747147 2747147 single base substitution T C exon_variant COCA-CN 4 2747147 2747147 single base substitution T C intron_variant COCA-CN 4 2747147 2747147 single base substitution T C upstream_gene_variant COCA-CN 4 2749617 2749617 single base substitution A T exon_variant COCA-CN 4 2749617 2749617 single base substitution A T missense_variant L111Q 332T>A COCA-CN 4 2749617 2749617 single base substitution A T missense_variant L4Q 11T>A COCA-CN 4 2749617 2749617 single base substitution A T upstream_gene_variant EOPC-DE 4 2747517 2747517 single base substitution G C downstream_gene_variant EOPC-DE 4 2747517 2747517 single base substitution G C intron_variant EOPC-DE 4 2747517 2747517 single base substitution G C upstream_gene_variant ESAD-UK 4 2741398 2741398 single base substitution G T downstream_gene_variant ESAD-UK 4 2744416 2744416 single base substitution G A downstream_gene_variant ESAD-UK 4 2744416 2744416 single base substitution G A intron_variant ESAD-UK 4 2749207 2749207 single base substitution C G exon_variant ESAD-UK 4 2749207 2749207 single base substitution C G intron_variant ESAD-UK 4 2749207 2749207 single base substitution C G upstream_gene_variant ESAD-UK 4 2749407 2749407 single base substitution T C exon_variant ESAD-UK 4 2749407 2749407 single base substitution T C missense_variant N181S 542A>G ESAD-UK 4 2749407 2749407 single base substitution T C missense_variant N74S 221A>G ESAD-UK 4 2749407 2749407 single base substitution T C upstream_gene_variant ESAD-UK 4 2749839 2749839 single base substitution G A intron_variant ESAD-UK 4 2749839 2749839 single base substitution G A upstream_gene_variant ESAD-UK 4 2751914 2751914 single base substitution G T intron_variant ESAD-UK 4 2751914 2751914 single base substitution G T upstream_gene_variant ESAD-UK 4 2752184 2752184 single base substitution C T intron_variant ESAD-UK 4 2752184 2752184 single base substitution C T upstream_gene_variant ESAD-UK 4 2753525 2753525 single base substitution G C intron_variant ESAD-UK 4 2753994 2753994 single base substitution G A intron_variant ESAD-UK 4 2755167 2755167 insertion of <=200bp - A intron_variant ESAD-UK 4 2756029 2756029 single base substitution C T intron_variant ESAD-UK 4 2756145 2756145 deletion of <=200bp T - intron_variant ESAD-UK 4 2760133 2760133 single base substitution A G upstream_gene_variant KIRP-US 4 2746482 2746482 single base substitution G A downstream_gene_variant KIRP-US 4 2746482 2746482 single base substitution G A exon_variant KIRP-US 4 2746482 2746482 single base substitution G A intron_variant KIRP-US 4 2746482 2746482 single base substitution G A missense_variant A176V 527C>T KIRP-US 4 2746482 2746482 single base substitution G A missense_variant A283V 848C>T LICA-FR 4 2746470 2746470 single base substitution G A downstream_gene_variant LICA-FR 4 2746470 2746470 single base substitution G A exon_variant LICA-FR 4 2746470 2746470 single base substitution G A intron_variant LICA-FR 4 2746470 2746470 single base substitution G A missense_variant T180M 539C>T LICA-FR 4 2746470 2746470 single base substitution G A missense_variant T287M 860C>T LICA-FR 4 2760137 2760137 single base substitution A G upstream_gene_variant LINC-JP 4 2753914 2753914 single base substitution G A intron_variant LINC-JP 4 2758007 2758007 single base substitution C T 5_prime_UTR_variant LINC-JP 4 2758007 2758007 single base substitution C T missense_variant D4N 10G>A LINC-JP 4 2758007 2758007 single base substitution C T upstream_gene_variant LINC-JP 4 2760964 2760964 single base substitution A G upstream_gene_variant LINC-JP 4 2760985 2760985 single base substitution G T upstream_gene_variant LIRI-JP 4 2743172 2743172 single base substitution G T downstream_gene_variant LIRI-JP 4 2743728 2743728 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 2743728 2743728 single base substitution A G downstream_gene_variant LIRI-JP 4 2745389 2745389 single base substitution C T downstream_gene_variant LIRI-JP 4 2745389 2745389 single base substitution C T intron_variant LIRI-JP 4 2749790 2749790 single base substitution C A intron_variant LIRI-JP 4 2749790 2749790 single base substitution C A upstream_gene_variant LIRI-JP 4 2753965 2753965 single base substitution G A intron_variant LIRI-JP 4 2754554 2754554 single base substitution G A intron_variant LIRI-JP 4 2755584 2755584 single base substitution G C intron_variant LIRI-JP 4 2759415 2759415 single base substitution C A upstream_gene_variant LIRI-JP 4 2760068 2760068 single base substitution G A upstream_gene_variant LIRI-JP 4 2760304 2760304 single base substitution A G upstream_gene_variant LIRI-JP 4 2761334 2761334 single base substitution A G upstream_gene_variant LIRI-JP 4 2761938 2761938 single base substitution T C upstream_gene_variant LUSC-KR 4 2743861 2743861 single base substitution G A 3_prime_UTR_variant LUSC-KR 4 2743861 2743861 single base substitution G A downstream_gene_variant LUSC-KR 4 2743861 2743861 single base substitution G A exon_variant LUSC-KR 4 2744384 2744384 single base substitution C A downstream_gene_variant LUSC-KR 4 2744384 2744384 single base substitution C A intron_variant LUSC-KR 4 2745184 2745184 single base substitution C T downstream_gene_variant LUSC-KR 4 2745184 2745184 single base substitution C T intron_variant LUSC-KR 4 2755790 2755790 single base substitution C G intron_variant LUSC-KR 4 2758169 2758169 single base substitution G T upstream_gene_variant LUSC-US 4 2746619 2746619 single base substitution G A downstream_gene_variant LUSC-US 4 2746619 2746619 single base substitution G A exon_variant LUSC-US 4 2746619 2746619 single base substitution G A intron_variant LUSC-US 4 2746619 2746619 single base substitution G A synonymous_variant Y130Y 390C>T LUSC-US 4 2746619 2746619 single base substitution G A synonymous_variant Y237Y 711C>T LUSC-US 4 2746619 2746619 single base substitution G A upstream_gene_variant LUSC-US 4 2749604 2749604 single base substitution G C exon_variant LUSC-US 4 2749604 2749604 single base substitution G C synonymous_variant P115P 345C>G LUSC-US 4 2749604 2749604 single base substitution G C synonymous_variant P8P 24C>G LUSC-US 4 2749604 2749604 single base substitution G C upstream_gene_variant MALY-DE 4 2747473 2747473 single base substitution G A downstream_gene_variant MALY-DE 4 2747473 2747473 single base substitution G A intron_variant MALY-DE 4 2747473 2747473 single base substitution G A upstream_gene_variant MALY-DE 4 2748058 2748058 single base substitution G C downstream_gene_variant MALY-DE 4 2748058 2748058 single base substitution G C intron_variant MALY-DE 4 2748058 2748058 single base substitution G C upstream_gene_variant MALY-DE 4 2761370 2761370 single base substitution G T upstream_gene_variant MELA-AU 4 2738814 2738814 insertion of <=200bp - C downstream_gene_variant MELA-AU 4 2738911 2738911 single base substitution G A downstream_gene_variant MELA-AU 4 2739027 2739027 single base substitution A T downstream_gene_variant MELA-AU 4 2740311 2740312 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 4 2740556 2740556 single base substitution G A downstream_gene_variant MELA-AU 4 2742443 2742444 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 2743847 2743847 single base substitution G A 3_prime_UTR_variant MELA-AU 4 2743847 2743847 single base substitution G A downstream_gene_variant MELA-AU 4 2743847 2743847 single base substitution G A exon_variant MELA-AU 4 2744864 2744864 single base substitution G A downstream_gene_variant MELA-AU 4 2744864 2744864 single base substitution G A intron_variant MELA-AU 4 2746298 2746298 single base substitution C T downstream_gene_variant MELA-AU 4 2746298 2746298 single base substitution C T exon_variant MELA-AU 4 2746298 2746298 single base substitution C T intron_variant MELA-AU 4 2746545 2746545 single base substitution G A downstream_gene_variant MELA-AU 4 2746545 2746545 single base substitution G A exon_variant MELA-AU 4 2746545 2746545 single base substitution G A intron_variant MELA-AU 4 2746545 2746545 single base substitution G A missense_variant S155F 464C>T MELA-AU 4 2746545 2746545 single base substitution G A missense_variant S262F 785C>T MELA-AU 4 2747313 2747313 single base substitution G A downstream_gene_variant MELA-AU 4 2747313 2747313 single base substitution G A intron_variant MELA-AU 4 2747313 2747313 single base substitution G A upstream_gene_variant MELA-AU 4 2747410 2747411 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 2747410 2747411 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 2747410 2747411 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 2748432 2748432 single base substitution T G downstream_gene_variant MELA-AU 4 2748432 2748432 single base substitution T G intron_variant MELA-AU 4 2748432 2748432 single base substitution T G upstream_gene_variant MELA-AU 4 2751305 2751305 single base substitution G A intron_variant MELA-AU 4 2751305 2751305 single base substitution G A upstream_gene_variant MELA-AU 4 2752516 2752517 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 2752516 2752517 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 2753394 2753394 single base substitution G A intron_variant MELA-AU 4 2753556 2753556 single base substitution G A intron_variant MELA-AU 4 2753727 2753727 single base substitution G A intron_variant MELA-AU 4 2754147 2754147 single base substitution G A intron_variant MELA-AU 4 2754698 2754698 single base substitution G A intron_variant MELA-AU 4 2754714 2754714 single base substitution C T intron_variant MELA-AU 4 2754941 2754941 single base substitution G A intron_variant MELA-AU 4 2756266 2756266 single base substitution C T intron_variant MELA-AU 4 2756594 2756595 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 2756857 2756857 single base substitution G A intron_variant MELA-AU 4 2756943 2756943 single base substitution A G intron_variant MELA-AU 4 2759193 2759193 single base substitution C T upstream_gene_variant MELA-AU 4 2760357 2760357 single base substitution C T upstream_gene_variant MELA-AU 4 2761267 2761267 single base substitution C T upstream_gene_variant MELA-AU 4 2761388 2761388 single base substitution G A upstream_gene_variant MELA-AU 4 2761925 2761925 single base substitution C T upstream_gene_variant MELA-AU 4 2761973 2761973 single base substitution A G upstream_gene_variant MELA-AU 4 2762020 2762020 single base substitution C T upstream_gene_variant MELA-AU 4 2762404 2762404 single base substitution G A upstream_gene_variant MELA-AU 4 2762467 2762467 single base substitution C T upstream_gene_variant MELA-AU 4 2762515 2762515 single base substitution C T upstream_gene_variant MELA-AU 4 2762673 2762673 single base substitution C T upstream_gene_variant MELA-AU 4 2762871 2762871 single base substitution G A upstream_gene_variant MELA-AU 4 2763038 2763038 single base substitution C T upstream_gene_variant ORCA-IN 4 2744238 2744238 single base substitution C G downstream_gene_variant ORCA-IN 4 2744238 2744238 single base substitution C G exon_variant ORCA-IN 4 2744238 2744238 single base substitution C G missense_variant E239Q 715G>C ORCA-IN 4 2744238 2744238 single base substitution C G missense_variant E263Q 787G>C ORCA-IN 4 2744238 2744238 single base substitution C G missense_variant E346Q 1036G>C ORCA-IN 4 2746635 2746635 single base substitution G T downstream_gene_variant ORCA-IN 4 2746635 2746635 single base substitution G T exon_variant ORCA-IN 4 2746635 2746635 single base substitution G T intron_variant ORCA-IN 4 2746635 2746635 single base substitution G T missense_variant A125D 374C>A ORCA-IN 4 2746635 2746635 single base substitution G T missense_variant A232D 695C>A ORCA-IN 4 2746635 2746635 single base substitution G T upstream_gene_variant ORCA-IN 4 2746642 2746642 single base substitution A G downstream_gene_variant ORCA-IN 4 2746642 2746642 single base substitution A G exon_variant ORCA-IN 4 2746642 2746642 single base substitution A G intron_variant ORCA-IN 4 2746642 2746642 single base substitution A G missense_variant Y123H 367T>C ORCA-IN 4 2746642 2746642 single base substitution A G missense_variant Y230H 688T>C ORCA-IN 4 2746642 2746642 single base substitution A G upstream_gene_variant ORCA-IN 4 2755028 2755028 single base substitution G A intron_variant ORCA-IN 4 2757788 2757788 single base substitution G T 5_prime_UTR_variant ORCA-IN 4 2757788 2757788 single base substitution G T missense_variant Q77K 229C>A ORCA-IN 4 2757788 2757788 single base substitution G T upstream_gene_variant OV-AU 4 2761158 2761158 single base substitution G A upstream_gene_variant PACA-AU 4 2750711 2750711 single base substitution T C intron_variant PACA-AU 4 2750711 2750711 single base substitution T C upstream_gene_variant PACA-AU 4 2759032 2759032 single base substitution A C upstream_gene_variant PACA-CA 4 2743021 2743021 single base substitution A G downstream_gene_variant PACA-CA 4 2754593 2754593 single base substitution C T intron_variant PACA-CA 4 2755620 2755620 single base substitution A G intron_variant PACA-CA 4 2757043 2757043 single base substitution C A intron_variant PACA-CA 4 2759091 2759091 single base substitution A G upstream_gene_variant PACA-CA 4 2761095 2761095 single base substitution G T upstream_gene_variant PACA-CA 4 2761287 2761287 single base substitution A G upstream_gene_variant PACA-CA 4 2761382 2761382 single base substitution C T upstream_gene_variant PAEN-IT 4 2754936 2754936 single base substitution C T intron_variant PBCA-DE 4 2739349 2739349 single base substitution T A downstream_gene_variant PBCA-DE 4 2754443 2754443 single base substitution A C intron_variant PRAD-CA 4 2761937 2761937 single base substitution T C upstream_gene_variant PRAD-CA 4 2761938 2761938 single base substitution T C upstream_gene_variant PRAD-UK 4 2740075 2740075 single base substitution G A downstream_gene_variant PRAD-UK 4 2747581 2747581 single base substitution T C downstream_gene_variant PRAD-UK 4 2747581 2747581 single base substitution T C intron_variant PRAD-UK 4 2747581 2747581 single base substitution T C upstream_gene_variant PRAD-UK 4 2749640 2749640 single base substitution T C 5_prime_UTR_variant PRAD-UK 4 2749640 2749640 single base substitution T C exon_variant PRAD-UK 4 2749640 2749640 single base substitution T C synonymous_variant E103E 309A>G PRAD-UK 4 2749640 2749640 single base substitution T C upstream_gene_variant READ-US 4 2744248 2744248 single base substitution C T downstream_gene_variant READ-US 4 2744248 2744248 single base substitution C T splice_acceptor_variant SKCA-BR 4 2743015 2743015 single base substitution C T downstream_gene_variant SKCA-BR 4 2744066 2744066 single base substitution A G downstream_gene_variant SKCA-BR 4 2744066 2744066 single base substitution A G exon_variant SKCA-BR 4 2744066 2744066 single base substitution A G missense_variant L296P 887T>C SKCA-BR 4 2744066 2744066 single base substitution A G missense_variant L320P 959T>C SKCA-BR 4 2744066 2744066 single base substitution A G missense_variant L403P 1208T>C SKCA-BR 4 2748100 2748100 single base substitution A C downstream_gene_variant SKCA-BR 4 2748100 2748100 single base substitution A C intron_variant SKCA-BR 4 2748100 2748100 single base substitution A C upstream_gene_variant SKCA-BR 4 2752124 2752133 deletion of <=200bp GATTATTATT - intron_variant SKCA-BR 4 2752124 2752133 deletion of <=200bp GATTATTATT - upstream_gene_variant SKCA-BR 4 2752151 2752152 deletion of <=200bp TA - intron_variant SKCA-BR 4 2752151 2752152 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 4 2752160 2752160 single base substitution T A intron_variant SKCA-BR 4 2752160 2752160 single base substitution T A upstream_gene_variant SKCA-BR 4 2760573 2760573 single base substitution C T upstream_gene_variant SKCA-BR 4 2761914 2761914 insertion of <=200bp - TTCCC upstream_gene_variant SKCA-BR 4 2762822 2762822 single base substitution A C upstream_gene_variant SKCA-BR 4 2762825 2762825 single base substitution A C upstream_gene_variant SKCM-US 4 2744022 2744022 single base substitution C A downstream_gene_variant SKCM-US 4 2744022 2744022 single base substitution C A exon_variant SKCM-US 4 2744022 2744022 single base substitution C A stop_gained E311* 931G>T SKCM-US 4 2744022 2744022 single base substitution C A stop_gained E335* 1003G>T SKCM-US 4 2744022 2744022 single base substitution C A stop_gained E418* 1252G>T SKCM-US 4 2744117 2744117 single base substitution G A downstream_gene_variant SKCM-US 4 2744117 2744117 single base substitution G A exon_variant SKCM-US 4 2744117 2744117 single base substitution G A missense_variant P279L 836C>T SKCM-US 4 2744117 2744117 single base substitution G A missense_variant P303L 908C>T SKCM-US 4 2744117 2744117 single base substitution G A missense_variant P386L 1157C>T SKCM-US 4 2746545 2746545 single base substitution G A downstream_gene_variant SKCM-US 4 2746545 2746545 single base substitution G A exon_variant SKCM-US 4 2746545 2746545 single base substitution G A intron_variant SKCM-US 4 2746545 2746545 single base substitution G A missense_variant S155F 464C>T SKCM-US 4 2746545 2746545 single base substitution G A missense_variant S262F 785C>T SKCM-US 4 2746636 2746636 single base substitution C T downstream_gene_variant SKCM-US 4 2746636 2746636 single base substitution C T exon_variant SKCM-US 4 2746636 2746636 single base substitution C T intron_variant SKCM-US 4 2746636 2746636 single base substitution C T missense_variant A125T 373G>A SKCM-US 4 2746636 2746636 single base substitution C T missense_variant A232T 694G>A SKCM-US 4 2746636 2746636 single base substitution C T upstream_gene_variant SKCM-US 4 2747233 2747233 single base substitution G A downstream_gene_variant SKCM-US 4 2747233 2747233 single base substitution G A exon_variant SKCM-US 4 2747233 2747233 single base substitution G A synonymous_variant V199V 597C>T SKCM-US 4 2747233 2747233 single base substitution G A synonymous_variant V92V 276C>T SKCM-US 4 2747233 2747233 single base substitution G A upstream_gene_variant SKCM-US 4 2749475 2749475 single base substitution C T exon_variant SKCM-US 4 2749475 2749475 single base substitution C T synonymous_variant L158L 474G>A SKCM-US 4 2749475 2749475 single base substitution C T synonymous_variant L51L 153G>A SKCM-US 4 2749475 2749475 single base substitution C T upstream_gene_variant STAD-US 4 2744179 2744179 single base substitution G A downstream_gene_variant STAD-US 4 2744179 2744179 single base substitution G A exon_variant STAD-US 4 2744179 2744179 single base substitution G A synonymous_variant D258D 774C>T STAD-US 4 2744179 2744179 single base substitution G A synonymous_variant D282D 846C>T STAD-US 4 2744179 2744179 single base substitution G A synonymous_variant D365D 1095C>T STAD-US 4 2746454 2746454 single base substitution C T downstream_gene_variant STAD-US 4 2746454 2746454 single base substitution C T exon_variant STAD-US 4 2746454 2746454 single base substitution C T intron_variant STAD-US 4 2746454 2746454 single base substitution C T synonymous_variant A185A 555G>A STAD-US 4 2746454 2746454 single base substitution C T synonymous_variant A292A 876G>A STAD-US 4 2746482 2746482 single base substitution G A downstream_gene_variant STAD-US 4 2746482 2746482 single base substitution G A exon_variant STAD-US 4 2746482 2746482 single base substitution G A intron_variant STAD-US 4 2746482 2746482 single base substitution G A missense_variant A176V 527C>T STAD-US 4 2746482 2746482 single base substitution G A missense_variant A283V 848C>T STAD-US 4 2749545 2749545 single base substitution C T exon_variant STAD-US 4 2749545 2749545 single base substitution C T missense_variant R135H 404G>A STAD-US 4 2749545 2749545 single base substitution C T missense_variant R28H 83G>A STAD-US 4 2749545 2749545 single base substitution C T upstream_gene_variant THCA-SA 4 2744087 2744087 single base substitution G A downstream_gene_variant THCA-SA 4 2744087 2744087 single base substitution G A exon_variant THCA-SA 4 2744087 2744087 single base substitution G A missense_variant A289V 866C>T THCA-SA 4 2744087 2744087 single base substitution G A missense_variant A313V 938C>T THCA-SA 4 2744087 2744087 single base substitution G A missense_variant A396V 1187C>T THCA-SA 4 2746638 2746638 single base substitution T C downstream_gene_variant THCA-SA 4 2746638 2746638 single base substitution T C exon_variant THCA-SA 4 2746638 2746638 single base substitution T C intron_variant THCA-SA 4 2746638 2746638 single base substitution T C missense_variant N124S 371A>G THCA-SA 4 2746638 2746638 single base substitution T C missense_variant N231S 692A>G THCA-SA 4 2746638 2746638 single base substitution T C upstream_gene_variant THCA-US 4 2757866 2757866 deletion of <=200bp G - 5_prime_UTR_variant THCA-US 4 2757866 2757866 deletion of <=200bp G - frameshift_variant R51 THCA-US 4 2757866 2757866 deletion of <=200bp G - upstream_gene_variant UCEC-US 4 2744128 2744128 single base substitution C T downstream_gene_variant UCEC-US 4 2744128 2744128 single base substitution C T exon_variant UCEC-US 4 2744128 2744128 single base substitution C T synonymous_variant Q275Q 825G>A UCEC-US 4 2744128 2744128 single base substitution C T synonymous_variant Q299Q 897G>A UCEC-US 4 2744128 2744128 single base substitution C T synonymous_variant Q382Q 1146G>A UCEC-US 4 2746219 2746219 single base substitution C A downstream_gene_variant UCEC-US 4 2746219 2746219 single base substitution C A exon_variant UCEC-US 4 2746219 2746219 single base substitution C A missense_variant K200N 600G>T UCEC-US 4 2746219 2746219 single base substitution C A missense_variant K224N 672G>T UCEC-US 4 2746219 2746219 single base substitution C A missense_variant K307N 921G>T UCEC-US 4 2746501 2746501 single base substitution C T downstream_gene_variant UCEC-US 4 2746501 2746501 single base substitution C T exon_variant UCEC-US 4 2746501 2746501 single base substitution C T intron_variant UCEC-US 4 2746501 2746501 single base substitution C T missense_variant E170K 508G>A UCEC-US 4 2746501 2746501 single base substitution C T missense_variant E277K 829G>A UCEC-US 4 2749579 2749579 single base substitution C T exon_variant UCEC-US 4 2749579 2749579 single base substitution C T missense_variant V124I 370G>A UCEC-US 4 2749579 2749579 single base substitution C T missense_variant V17I 49G>A UCEC-US 4 2749579 2749579 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand OSCC-GB_01100111 COSM4888352 c.229C>A p.Q77K Substitution - Missense 4:2756061-2756061 - T3058 COSM3133940 c.848C>T p.A283V Substitution - Missense 4:2744755-2744755 - TCGA-A4-8310-01 COSM3133940 c.848C>T p.A283V Substitution - Missense 4:2744755-2744755 - TCGA-EE-A3AA-06 COSM3603258 c.785C>T p.S262F Substitution - Missense 4:2744818-2744818 - sysucc-311T COSM5466139 c.810G>T p.E270D Substitution - Missense 4:2744793-2744793 - TCGA-DK-A3IT-01 COSM1310003 c.910C>T p.L304F Substitution - Missense 4:2744503-2744503 - STC252 COSM5060324 c.448G>A p.E150K Substitution - Missense 4:2747774-2747774 - S01366 COSM316045 c.845T>C p.L282P Substitution - Missense 4:2744758-2744758 - BCM723T COSM4956146 c.860C>T p.T287M Substitution - Missense 4:2744743-2744743 - WSU-HN6 COSM4602243 c.787C>T p.R263W Substitution - Missense 4:2744816-2744816 - CSCC-31-T COSM4460752 c.1178C>T p.P393L Substitution - Missense 4:2742369-2742369 - PTC_417 COSM5960051 c.692A>G p.N231S Substitution - Missense 4:2744911-2744911 - TCGA-BR-4292-01 COSM4124273 c.876G>A p.A292A Substitution - coding silent 4:2744727-2744727 - B70 COSM1753702 c.457C>T p.Q153* Substitution - Nonsense 4:2747765-2747765 - CSCC-19-T COSM4455111 c.671A>T p.N224I Substitution - Missense 4:2744932-2744932 - TCGA-18-3416-01 COSM733627 c.711C>T p.Y237Y Substitution - coding silent 4:2744892-2744892 - TCGA-AA-A00N-01 COSM277750 c.524G>A p.R175Q Substitution - Missense 4:2747698-2747698 - BCM723T COSM4956146 c.860C>T p.T287M Substitution - Missense 4:2744743-2744743 - SNU-C4 COSM4615737 c.550_551insG p.E184fs*5 Insertion - Frameshift 4:2747671-2747672 - OSCC-GB_01040111 COSM4885978 c.695C>A p.A232D Substitution - Missense 4:2744908-2744908 - ESO-708 COSM1268223 c.409C>T p.R137W Substitution - Missense 4:2747813-2747813 - C135 COSM4618421 c.477C>T p.T159T Substitution - coding silent 4:2747745-2747745 - TCGA-D1-A17Q-01 COSM1054792 c.829G>A p.E277K Substitution - Missense 4:2744774-2744774 - TCGA-CI-6622-01 COSM5076137 c.873T>C p.A291A Substitution - coding silent 4:2744730-2744730 - TCGA-AM-5820-01 COSM3760561 c.763G>A p.E255K Substitution - Missense 4:2744840-2744840 - CSCC-31-T COSM4461694 c.1216C>T p.P406S Substitution - Missense 4:2742331-2742331 - PTC-70C COSM4159017 c.789G>A p.R263R Substitution - coding silent 4:2744814-2744814 - B83-Tumor COSM4005742 c.404G>A p.R135H Substitution - Missense 4:2747818-2747818 - TCGA-D3-A2JF-06 COSM3603256 c.1252G>T p.E418* Substitution - Nonsense 4:2742295-2742295 - OSCC-GB_01130111 COSM5954783 c.1036G>C p.E346Q Substitution - Missense 4:2742511-2742511 - TCGA-A8-A06Q-01 COSM447771 c.609T>A p.I203I Substitution - coding silent 4:2745494-2745494 - 587256 COSM1229916 c.251G>C p.G84A Substitution - Missense 4:2756039-2756039 - S01366 COSM316045 c.845T>C p.L282P Substitution - Missense 4:2744758-2744758 - TCGA-BR-8487-01 COSM4124272 c.1095C>T p.D365D Substitution - coding silent 4:2742452-2742452 - TCGA-DA-A1I7-06 COSM3133943 c.694G>A p.A232T Substitution - Missense 4:2744909-2744909 - T2269 COSM4734938 c.1052G>A p.R351Q Substitution - Missense 4:2742495-2742495 - T3535 COSM4734940 c.431G>A p.C144Y Substitution - Missense 4:2747791-2747791 - YUKAT COSM5401077 c.1133G>A p.G378E Substitution - Missense 4:2742414-2742414 - HCC119 COSM1618746 c.10G>A p.D4N Substitution - Missense 4:2756280-2756280 - B89-11 COSM1753701 c.1275T>C p.A425A Substitution - coding silent 4:2742272-2742272 - TCGA-EE-A2A2-06 COSM3603259 c.597C>T p.V199V Substitution - coding silent 4:2745506-2745506 - TCGA-EJ-7314-01 COSM1471718 c.290T>A p.L97Q Substitution - Missense 4:2747932-2747932 - TCGA-BR-4184-01 COSM3133940 c.848C>T p.A283V Substitution - Missense 4:2744755-2744755 - TCGA-FP-A4BE-01 COSM4005742 c.404G>A p.R135H Substitution - Missense 4:2747818-2747818 - Br15X COSM39754 c.437C>T p.S146F Substitution - Missense 4:2747785-2747785 - TCGA-AP-A059-01 COSM1054791 c.921G>T p.K307N Substitution - Missense 4:2744492-2744492 - TCGA-AG-3901-01 COSM178428 c.415G>A p.A139T Substitution - Missense 4:2747807-2747807 - B66-Tumor COSM1753703 c.369C>T p.V123V Substitution - coding silent 4:2747853-2747853 - HCC119T COSM1618746 c.10G>A p.D4N Substitution - Missense 4:2756280-2756280 - S00944 COSM316044 c.861G>C p.T287T Substitution - coding silent 4:2744742-2744742 - STC297 COSM5060322 c.1184C>T p.A395V Substitution - Missense 4:2742363-2742363 - 134427 COSM326709 c.265C>T p.Q89* Substitution - Nonsense 4:2756025-2756025 - TCGA-A8-A0A6-01 COSM3825745 c.368T>G p.V123G Substitution - Missense 4:2747854-2747854 - TCGA-EE-A2A2-06 COSM3603260 c.474G>A p.L158L Substitution - coding silent 4:2747748-2747748 - TCGA-39-5036-01 COSM733626 c.345C>G p.P115P Substitution - coding silent 4:2747877-2747877 - TCGA-D1-A103-01 COSM1054790 c.1146G>A p.Q382Q Substitution - coding silent 4:2742401-2742401 - TCGA-AC-A23H-01 COSM3825743 c.1263C>T p.L421L Substitution - coding silent 4:2742284-2742284 - CRC-02T COSM5455298 c.332T>A p.L111Q Substitution - Missense 4:2747890-2747890 - CHC320T COSM447768 c.1187C>T p.A396V Substitution - Missense 4:2742360-2742360 - B70-Tumor COSM1753702 c.457C>T p.Q153* Substitution - Nonsense 4:2747765-2747765 - TCGA-AF-2693-01 COSM1567353 c.1027-1G>A p.? Unknown 4:2742521-2742521 - B66 COSM1753703 c.369C>T p.V123V Substitution - coding silent 4:2747853-2747853 - TCGA-AM-5821-01 COSM447768 c.1187C>T p.A396V Substitution - Missense 4:2742360-2742360 - TCGA-EB-A3Y6-01 COSM3603257 c.1157C>T p.P386L Substitution - Missense 4:2742390-2742390 - M022 COSM1738963 c.869A>G p.D290G Substitution - Missense 4:2744734-2744734 - I2L-P19Tb-Tumor-Organoid COSM5355993 c.724C>A p.H242N Substitution - Missense 4:2744879-2744879 - TCGA-AX-A0J1-01 COSM1054793 c.370G>A p.V124I Substitution - Missense 4:2747852-2747852 - TCGA-BH-A2L8-01 COSM3825744 c.1063G>A p.G355R Substitution - Missense 4:2742484-2742484 - 111 COSM5016940 c.568-1G>A p.? Unknown 4:2745536-2745536 - OSCC-GB_00800111 COSM4887907 c.688T>C p.Y230H Substitution - Missense 4:2744915-2744915 - WA55 COSM241966 c.1096G>A p.A366T Substitution - Missense 4:2742451-2742451 - TCGA-DK-A1AC-01 COSM1310004 c.661G>A p.E221K Substitution - Missense 4:2744942-2744942 - S00944 COSM316044 c.861G>C p.T287T Substitution - coding silent 4:2744742-2744742 - T3091 COSM4734939 c.483C>T p.T161T Substitution - coding silent 4:2747739-2747739 - T3668 COSM4734939 c.483C>T p.T161T Substitution - coding silent 4:2747739-2747739 - HCT8 COSM4635136 c.1160C>A p.P387H Substitution - Missense 4:2742387-2742387 - I2L-P19Tb-Tumor-Biopsy COSM5355993 c.724C>A p.H242N Substitution - Missense 4:2744879-2744879 - SJHGG074_D COSM4971443 c.640A>G p.K214E Substitution - Missense 4:2745463-2745463 - STC297 COSM5060323 c.685C>T p.R229C Substitution - Missense 4:2744918-2744918 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.368548;Hs.368551 4p16.3 610669

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.L282P c.845T>C 4 2746485 SCLC A G SpliceDonorSNV . c.1026+2T>C 4 2746112 STAD A T Missense p.L97Q c.290T>A 4 2749659 PRAD A T Synonymous p.I203I c.609T>A 4 2747221 BRCA C A Nonsense p.E418* c.1252G>T 4 2744022 CM C G Synonymous p.A72A c.216G>C 4 2757801 LUAD C G Synonymous p.T287T c.861G>C 4 2746469 SCLC C T Missense p.A139T c.415G>A 4 2749534 COREAD C T Missense p.A232T c.694G>A 4 2746636 CM C T Missense p.A243T c.727G>A 4 2746603 COREAD C T Missense p.M257I c.771G>A 4 2746559 HNSC C T Missense p.R155Q c.464G>A 4 2749485 STAD C T Missense p.S146F c.437C>T 4 2749512 GBM C T Synonymous p.A292A c.876G>A 4 2746454 STAD C T Synonymous p.L158L c.474G>A 4 2749475 CM G A Missense p.L304F c.910C>T 4 2746230 BLCA G A Missense p.S262F c.785C>T 4 2746545 CM G A Nonsense p.Q89* c.265C>T 4 2757752 SCLC G A Synonymous p.S339S c.1017C>T 4 2746123 CM G A Synonymous p.V199V c.597C>T 4 2747233 CM G A Synonymous p.Y237Y c.711C>T 4 2746619 LUSC G C Synonymous p.P115P c.345C>G 4 2749604 LUSC G - Frameshift p.R51Afs*13 c.151delC 4 2757866 THCA GG AA Missense p.P254L c.761_762delinsTT 4 2746568 CM - GT Frameshift p.H252Qfs*6 c.755_756insAC 4 2746574 BRCA