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 3 42700697 42700699 + In_Frame_Del DEL GAG GAG - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr3:42700697_42700699delGAG c.850_852delGAG c.(850-852)gagdel p.E294del BLCA 3 42700994 42700994 + Missense_Mutation SNP G G A TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr3:42700994G>A c.1147G>A c.(1147-1149)Gag>Aag p.E383K BLCA 3 42701094 42701094 + Missense_Mutation SNP G G T TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr3:42701094G>T c.1247G>T c.(1246-1248)cGa>cTa p.R416L BLCA 3 42702987 42702987 + Missense_Mutation SNP G G A TCGA-FJ-A3Z7-01A-12D-A23M-08 TCGA-FJ-A3Z7-10A-01D-A23K-08 g.chr3:42702987G>A c.1484G>A c.(1483-1485)tGt>tAt p.C495Y BLCA 3 42703079 42703079 + Missense_Mutation SNP G G C TCGA-FD-A6TB-01A-12D-A339-08 TCGA-FD-A6TB-10A-21D-A339-08 g.chr3:42703079G>C c.1576G>C c.(1576-1578)Gag>Cag p.E526Q BLCA 3 42704594 42704594 + Missense_Mutation SNP C C T TCGA-G2-AA3C-01A-21D-A391-08 TCGA-G2-AA3C-10A-01D-A394-08 g.chr3:42704594C>T c.1712C>T c.(1711-1713)tCa>tTa p.S571L BLCA 3 42705288 42705288 + Splice_Site SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:42705288G>A c.e5-1 BLCA 3 42705397 42705397 + Missense_Mutation SNP A A G TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr3:42705397A>G c.1846A>G c.(1846-1848)Aag>Gag p.K616E BRCA 3 42699991 42699991 + Missense_Mutation SNP G G C TCGA-D8-A1X9-01A-12D-A159-09 TCGA-D8-A1X9-10A-01D-A17G-09 g.chr3:42699991G>C c.144G>C c.(142-144)caG>caC p.Q48H CESC 3 42700448 42700448 + Missense_Mutation SNP G G A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 g.chr3:42700448G>A c.601G>A c.(601-603)Ggt>Agt p.G201S CESC 3 42700652 42700652 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr3:42700652G>A c.805G>A c.(805-807)Gag>Aag p.E269K CESC 3 42700666 42700666 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr3:42700666G>C c.819G>C c.(817-819)caG>caC p.Q273H CESC 3 42700892 42700892 + Nonsense_Mutation SNP G G T TCGA-Q1-A73P-01A-11D-A32I-09 TCGA-Q1-A73P-10B-01D-A32I-09 g.chr3:42700892G>T c.1045G>T c.(1045-1047)Gag>Tag p.E349* CESC 3 42701164 42701164 + Missense_Mutation SNP G G C TCGA-EK-A2R7-01A-11D-A18J-09 TCGA-EK-A2R7-10A-01D-A18J-09 g.chr3:42701164G>C c.1317G>C c.(1315-1317)caG>caC p.Q439H COAD 3 42701229 42701229 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:42701229G>A c.1382G>A c.(1381-1383)cGc>cAc p.R461H COAD 3 42704550 42704550 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:42704550C>A c.1668C>A c.(1666-1668)tcC>tcA p.S556S COADREAD 3 42701229 42701229 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr3:42701229G>A c.1382G>A c.(1381-1383)cGc>cAc p.R461H COADREAD 3 42704550 42704550 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:42704550C>A c.1668C>A c.(1666-1668)tcC>tcA p.S556S ESCA 3 42700678 42700678 + Silent SNP C C T TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr3:42700678C>T c.831C>T c.(829-831)gaC>gaT p.D277D ESCA 3 42701321 42701321 + Splice_Site SNP G G A TCGA-R6-A8W8-01B-11D-A37C-09 TCGA-R6-A8W8-10A-01D-A37F-09 g.chr3:42701321G>A c.e2+1 GBMLGG 3 42701050 42701050 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42701050G>A c.1203G>A c.(1201-1203)ggG>ggA p.G401G HNSC 3 42703044 42703044 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr3:42703044G>A c.1541G>A c.(1540-1542)gGc>gAc p.G514D LGG 3 42701050 42701050 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42701050G>A c.1203G>A c.(1201-1203)ggG>ggA p.G401G LUAD 3 42701285 42701285 + Silent SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr3:42701285C>T c.1438C>T c.(1438-1440)Ctg>Ttg p.L480L LUAD 3 42703101 42703101 + Missense_Mutation SNP C C T TCGA-44-4112-01A-01D-1105-08 TCGA-44-4112-10A-01D-1458-08 g.chr3:42703101C>T c.1598C>T c.(1597-1599)gCc>gTc p.A533V LUAD 3 42705736 42705736 + Missense_Mutation SNP G G C TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr3:42705736G>C c.1890G>C c.(1888-1890)aaG>aaC p.K630N LUSC 3 42703103 42703103 + Missense_Mutation SNP C C T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:42703103C>T c.1600C>T c.(1600-1602)Cac>Tac p.H534Y PAAD 3 42703100 42703100 + Missense_Mutation SNP G G A TCGA-RB-AA9M-01A-11D-A397-08 TCGA-RB-AA9M-10A-01D-A39A-08 g.chr3:42703100G>A c.1597G>A c.(1597-1599)Gcc>Acc p.A533T PAAD 3 42705408 42705408 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:42705408C>T c.1857C>T c.(1855-1857)ttC>ttT p.F619F PCPG 3 42703080 42703080 + Missense_Mutation SNP A A G TCGA-PR-A5PF-01A-11D-A35D-08 TCGA-PR-A5PF-10A-01D-A35B-08 g.chr3:42703080A>G c.1577A>G c.(1576-1578)gAg>gGg p.E526G PRAD 3 42700747 42700749 + In_Frame_Del DEL GGA GGA - TCGA-EJ-7794-01A-11D-2114-08 TCGA-EJ-7794-10A-01D-2115-08 g.chr3:42700747_42700749delGGA c.900_902delGGA c.(898-903)cgggag>cgg p.E307del PRAD 3 42704607 42704607 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 g.chr3:42704607G>A c.1725G>A c.(1723-1725)ccG>ccA p.P575P SKCM 3 42700747 42700749 + In_Frame_Del DEL GGA GGA - TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr3:42700747_42700749delGGA c.900_902delGGA c.(898-903)cgggag>cgg p.E307del SKCM 3 42705342 42705342 + Silent SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr3:42705342C>T c.1791C>T c.(1789-1791)atC>atT p.I597I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 42702987 42702987 single base substitution G A missense_variant C119Y 356G>A BLCA-US 3 42702987 42702987 single base substitution G A missense_variant C41Y 122G>A BLCA-US 3 42702987 42702987 single base substitution G A missense_variant C495Y 1484G>A BRCA-EU 3 42690837 42690837 single base substitution A C upstream_gene_variant BRCA-EU 3 42696815 42696815 deletion of <=200bp G - intron_variant BRCA-EU 3 42696815 42696815 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 42698982 42698982 single base substitution C A intron_variant BRCA-EU 3 42698982 42698982 single base substitution C A upstream_gene_variant BRCA-EU 3 42700102 42700102 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 42700102 42700102 single base substitution C T synonymous_variant N85N 255C>T BRCA-EU 3 42700102 42700102 single base substitution C T upstream_gene_variant BRCA-EU 3 42700453 42700453 single base substitution G T 5_prime_UTR_variant BRCA-EU 3 42700453 42700453 single base substitution G T intron_variant BRCA-EU 3 42700453 42700453 single base substitution G T synonymous_variant G202G 606G>T BRCA-EU 3 42702595 42702595 single base substitution G A intron_variant BRCA-EU 3 42706272 42706272 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 42708197 42708197 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 42708197 42708197 single base substitution C G downstream_gene_variant BRCA-EU 3 42708964 42708964 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 42708964 42708964 single base substitution G C downstream_gene_variant BRCA-EU 3 42709290 42709290 single base substitution A T downstream_gene_variant BRCA-EU 3 42713709 42713709 single base substitution G A downstream_gene_variant BRCA-EU 3 42713903 42713903 single base substitution G A downstream_gene_variant BRCA-FR 3 42702595 42702595 single base substitution G A intron_variant BRCA-UK 3 42703093 42703093 single base substitution C T synonymous_variant Y154Y 462C>T BRCA-UK 3 42703093 42703093 single base substitution C T synonymous_variant Y530Y 1590C>T BRCA-UK 3 42703093 42703093 single base substitution C T synonymous_variant Y76Y 228C>T BRCA-UK 3 42704535 42704535 single base substitution G C missense_variant E175D 525G>C BRCA-UK 3 42704535 42704535 single base substitution G C missense_variant E551D 1653G>C BRCA-UK 3 42704535 42704535 single base substitution G C missense_variant E97D 291G>C BRCA-UK 3 42713903 42713903 single base substitution G A downstream_gene_variant BRCA-US 3 42699991 42699991 single base substitution G C 5_prime_UTR_variant BRCA-US 3 42699991 42699991 single base substitution G C missense_variant Q48H 144G>C BRCA-US 3 42699991 42699991 single base substitution G C upstream_gene_variant CESC-US 3 42700448 42700448 single base substitution G A 5_prime_UTR_variant CESC-US 3 42700448 42700448 single base substitution G A intron_variant CESC-US 3 42700448 42700448 single base substitution G A missense_variant G201S 601G>A CESC-US 3 42700652 42700652 single base substitution G A 5_prime_UTR_variant CESC-US 3 42700652 42700652 single base substitution G A missense_variant E269K 805G>A CESC-US 3 42700666 42700666 single base substitution G C 5_prime_UTR_variant CESC-US 3 42700666 42700666 single base substitution G C missense_variant Q273H 819G>C CESC-US 3 42700892 42700892 single base substitution G T 5_prime_UTR_variant CESC-US 3 42700892 42700892 single base substitution G T intron_variant CESC-US 3 42700892 42700892 single base substitution G T stop_gained E349* 1045G>T CESC-US 3 42701164 42701164 single base substitution G C 5_prime_UTR_variant CESC-US 3 42701164 42701164 single base substitution G C missense_variant Q439H 1317G>C CESC-US 3 42701164 42701164 single base substitution G C missense_variant Q63H 189G>C CLLE-ES 3 42696726 42696726 single base substitution A G intron_variant CLLE-ES 3 42696726 42696726 single base substitution A G upstream_gene_variant CLLE-ES 3 42703279 42703279 single base substitution T G intron_variant CLLE-ES 3 42712783 42712783 single base substitution G T downstream_gene_variant COAD-US 3 42701229 42701229 single base substitution G A missense_variant R461H 1382G>A COAD-US 3 42701229 42701229 single base substitution G A missense_variant R7H 20G>A COAD-US 3 42701229 42701229 single base substitution G A missense_variant R85H 254G>A COCA-CN 3 42700302 42700302 single base substitution C G 5_prime_UTR_variant COCA-CN 3 42700302 42700302 single base substitution C G missense_variant P152R 455C>G COCA-CN 3 42700302 42700302 single base substitution C G upstream_gene_variant COCA-CN 3 42700731 42700731 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 3 42700731 42700731 single base substitution G T missense_variant G295V 884G>T COCA-CN 3 42700731 42700731 single base substitution G T splice_donor_variant COCA-CN 3 42705967 42705967 single base substitution G A synonymous_variant A253A 759G>A COCA-CN 3 42705967 42705967 single base substitution G A synonymous_variant A331A 993G>A COCA-CN 3 42705967 42705967 single base substitution G A synonymous_variant A707A 2121G>A COCA-CN 3 42705970 42705970 single base substitution C T synonymous_variant H254H 762C>T COCA-CN 3 42705970 42705970 single base substitution C T synonymous_variant H332H 996C>T COCA-CN 3 42705970 42705970 single base substitution C T synonymous_variant H708H 2124C>T ESAD-UK 3 42691648 42691648 single base substitution A T upstream_gene_variant ESAD-UK 3 42692695 42692695 single base substitution G A upstream_gene_variant ESAD-UK 3 42695144 42695144 single base substitution G A upstream_gene_variant ESAD-UK 3 42697411 42697411 single base substitution A G intron_variant ESAD-UK 3 42697411 42697411 single base substitution A G upstream_gene_variant ESAD-UK 3 42697427 42697427 single base substitution A G intron_variant ESAD-UK 3 42697427 42697427 single base substitution A G upstream_gene_variant ESAD-UK 3 42697584 42697584 single base substitution T C intron_variant ESAD-UK 3 42697584 42697584 single base substitution T C upstream_gene_variant ESAD-UK 3 42703059 42703059 single base substitution A C missense_variant K143T 428A>C ESAD-UK 3 42703059 42703059 single base substitution A C missense_variant K519T 1556A>C ESAD-UK 3 42703059 42703059 single base substitution A C missense_variant K65T 194A>C ESAD-UK 3 42705257 42705257 single base substitution G A intron_variant ESAD-UK 3 42709684 42709684 single base substitution G A downstream_gene_variant ESAD-UK 3 42711065 42711065 single base substitution T A downstream_gene_variant ESCA-CN 3 42704567 42704567 single base substitution C T missense_variant S108F 323C>T ESCA-CN 3 42704567 42704567 single base substitution C T missense_variant S186F 557C>T ESCA-CN 3 42704567 42704567 single base substitution C T missense_variant S562F 1685C>T ESCA-CN 3 42705871 42705871 single base substitution C G synonymous_variant L221L 663C>G ESCA-CN 3 42705871 42705871 single base substitution C G synonymous_variant L299L 897C>G ESCA-CN 3 42705871 42705871 single base substitution C G synonymous_variant L675L 2025C>G LIAD-FR 3 42705414 42705414 insertion of <=200bp - G frameshift_variant E167E? LIAD-FR 3 42705414 42705414 insertion of <=200bp - G frameshift_variant E245E? LIAD-FR 3 42705414 42705414 insertion of <=200bp - G frameshift_variant E621E? LICA-FR 3 42700697 42700697 single base substitution G A 5_prime_UTR_variant LICA-FR 3 42700697 42700697 single base substitution G A missense_variant E284K 850G>A LINC-JP 3 42691171 42691171 single base substitution C A upstream_gene_variant LINC-JP 3 42700940 42700940 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 3 42700940 42700940 single base substitution C T intron_variant LINC-JP 3 42700940 42700940 single base substitution C T stop_gained R365* 1093C>T LINC-JP 3 42703760 42703760 single base substitution A G intron_variant LINC-JP 3 42705501 42705501 single base substitution A G intron_variant LINC-JP 3 42705923 42705923 single base substitution G T missense_variant G239C 715G>T LINC-JP 3 42705923 42705923 single base substitution G T missense_variant G317C 949G>T LINC-JP 3 42705923 42705923 single base substitution G T missense_variant G693C 2077G>T LINC-JP 3 42706336 42706336 insertion of <=200bp - T 3_prime_UTR_variant LINC-JP 3 42710775 42710775 single base substitution A G downstream_gene_variant LIRI-JP 3 42690816 42690816 single base substitution A G upstream_gene_variant LIRI-JP 3 42694593 42694593 single base substitution C A upstream_gene_variant LIRI-JP 3 42695127 42695127 single base substitution T C upstream_gene_variant LIRI-JP 3 42696913 42696913 single base substitution T C intron_variant LIRI-JP 3 42696913 42696913 single base substitution T C upstream_gene_variant LIRI-JP 3 42698147 42698147 single base substitution G A intron_variant LIRI-JP 3 42698147 42698147 single base substitution G A upstream_gene_variant LIRI-JP 3 42702972 42702972 single base substitution T C splice_region_variant LIRI-JP 3 42705015 42705015 single base substitution G A intron_variant LIRI-JP 3 42707124 42707124 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 42707494 42707494 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 42707494 42707494 single base substitution G T downstream_gene_variant LIRI-JP 3 42708762 42708762 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 42708762 42708762 single base substitution G T downstream_gene_variant LIRI-JP 3 42708763 42708763 single base substitution G C 3_prime_UTR_variant LIRI-JP 3 42708763 42708763 single base substitution G C downstream_gene_variant LIRI-JP 3 42709986 42709986 single base substitution A G downstream_gene_variant LIRI-JP 3 42710866 42710866 single base substitution A T downstream_gene_variant LIRI-JP 3 42712514 42712514 single base substitution A T downstream_gene_variant LUSC-KR 3 42700279 42700279 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 42700279 42700279 single base substitution G A synonymous_variant Q144Q 432G>A LUSC-KR 3 42700279 42700279 single base substitution G A upstream_gene_variant LUSC-KR 3 42704128 42704128 single base substitution G C intron_variant LUSC-KR 3 42709219 42709219 single base substitution G C downstream_gene_variant LUSC-KR 3 42712981 42712981 single base substitution G A downstream_gene_variant LUSC-US 3 42703103 42703103 single base substitution C T missense_variant H158Y 472C>T LUSC-US 3 42703103 42703103 single base substitution C T missense_variant H534Y 1600C>T LUSC-US 3 42703103 42703103 single base substitution C T missense_variant H80Y 238C>T MALY-DE 3 42704684 42704684 single base substitution C T intron_variant MALY-DE 3 42713912 42713912 single base substitution A C downstream_gene_variant MELA-AU 3 42691514 42691514 single base substitution C T upstream_gene_variant MELA-AU 3 42693776 42693776 single base substitution A G upstream_gene_variant MELA-AU 3 42693921 42693921 single base substitution C G upstream_gene_variant MELA-AU 3 42694044 42694044 single base substitution C A upstream_gene_variant MELA-AU 3 42694098 42694098 insertion of <=200bp - C upstream_gene_variant MELA-AU 3 42694784 42694785 multiple base substitution (>=2bp and <=200bp) GC AA upstream_gene_variant MELA-AU 3 42694909 42694909 single base substitution G T upstream_gene_variant MELA-AU 3 42695577 42695577 single base substitution G A intron_variant MELA-AU 3 42695577 42695577 single base substitution G A upstream_gene_variant MELA-AU 3 42695629 42695629 single base substitution C T intron_variant MELA-AU 3 42695629 42695629 single base substitution C T upstream_gene_variant MELA-AU 3 42697376 42697376 single base substitution C T intron_variant MELA-AU 3 42697376 42697376 single base substitution C T upstream_gene_variant MELA-AU 3 42697461 42697461 single base substitution C T intron_variant MELA-AU 3 42697461 42697461 single base substitution C T upstream_gene_variant MELA-AU 3 42697967 42697967 single base substitution G A intron_variant MELA-AU 3 42697967 42697967 single base substitution G A upstream_gene_variant MELA-AU 3 42698158 42698158 single base substitution G A intron_variant MELA-AU 3 42698158 42698158 single base substitution G A upstream_gene_variant MELA-AU 3 42699393 42699394 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 42699393 42699394 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 42699932 42699932 single base substitution C T 5_prime_UTR_variant MELA-AU 3 42699932 42699932 single base substitution C T missense_variant P29S 85C>T MELA-AU 3 42699932 42699932 single base substitution C T upstream_gene_variant MELA-AU 3 42701008 42701009 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 42701008 42701009 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant RR11RW MELA-AU 3 42701008 42701009 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant RR387RW MELA-AU 3 42701066 42701067 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 42701066 42701067 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P31F 91CC>TT MELA-AU 3 42701066 42701067 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P407F 1219CC>TT MELA-AU 3 42701517 42701517 single base substitution C T intron_variant MELA-AU 3 42702027 42702027 single base substitution C T intron_variant MELA-AU 3 42702037 42702037 single base substitution G A intron_variant MELA-AU 3 42702233 42702233 single base substitution C G intron_variant MELA-AU 3 42702424 42702424 single base substitution G A intron_variant MELA-AU 3 42702426 42702426 single base substitution G T intron_variant MELA-AU 3 42702434 42702434 single base substitution C T intron_variant MELA-AU 3 42702443 42702443 single base substitution C T intron_variant MELA-AU 3 42702895 42702895 single base substitution G A intron_variant MELA-AU 3 42703738 42703739 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 42703788 42703788 single base substitution C T intron_variant MELA-AU 3 42704181 42704181 single base substitution C T intron_variant MELA-AU 3 42704212 42704212 single base substitution C T intron_variant MELA-AU 3 42704305 42704305 single base substitution C T intron_variant MELA-AU 3 42704423 42704423 single base substitution C T intron_variant MELA-AU 3 42704568 42704568 single base substitution C T synonymous_variant S108S 324C>T MELA-AU 3 42704568 42704568 single base substitution C T synonymous_variant S186S 558C>T MELA-AU 3 42704568 42704568 single base substitution C T synonymous_variant S562S 1686C>T MELA-AU 3 42704790 42704790 single base substitution C T intron_variant MELA-AU 3 42704830 42704830 single base substitution C T intron_variant MELA-AU 3 42705055 42705055 single base substitution C T intron_variant MELA-AU 3 42705253 42705253 single base substitution C T intron_variant MELA-AU 3 42705270 42705270 single base substitution C T intron_variant MELA-AU 3 42705465 42705465 single base substitution C T intron_variant MELA-AU 3 42705613 42705613 single base substitution G A intron_variant MELA-AU 3 42705915 42705915 single base substitution C T missense_variant A236V 707C>T MELA-AU 3 42705915 42705915 single base substitution C T missense_variant A314V 941C>T MELA-AU 3 42705915 42705915 single base substitution C T missense_variant A690V 2069C>T MELA-AU 3 42706031 42706031 single base substitution C T missense_variant P275S 823C>T MELA-AU 3 42706031 42706031 single base substitution C T missense_variant P353S 1057C>T MELA-AU 3 42706031 42706031 single base substitution C T missense_variant P729S 2185C>T MELA-AU 3 42706360 42706360 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42706541 42706541 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42707422 42707422 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42707422 42707422 single base substitution C T downstream_gene_variant MELA-AU 3 42707474 42707474 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42707474 42707474 single base substitution C T downstream_gene_variant MELA-AU 3 42707485 42707485 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42707485 42707485 single base substitution G A downstream_gene_variant MELA-AU 3 42707491 42707491 single base substitution A T 3_prime_UTR_variant MELA-AU 3 42707491 42707491 single base substitution A T downstream_gene_variant MELA-AU 3 42707550 42707550 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42707550 42707550 single base substitution G A downstream_gene_variant MELA-AU 3 42707711 42707713 deletion of <=200bp GTT - 3_prime_UTR_variant MELA-AU 3 42707711 42707713 deletion of <=200bp GTT - downstream_gene_variant MELA-AU 3 42707882 42707882 single base substitution G T 3_prime_UTR_variant MELA-AU 3 42707882 42707882 single base substitution G T downstream_gene_variant MELA-AU 3 42708392 42708392 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42708392 42708392 single base substitution C T downstream_gene_variant MELA-AU 3 42708532 42708532 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42708532 42708532 single base substitution C T downstream_gene_variant MELA-AU 3 42708616 42708616 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42708616 42708616 single base substitution G A downstream_gene_variant MELA-AU 3 42708722 42708722 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42708722 42708722 single base substitution C T downstream_gene_variant MELA-AU 3 42708870 42708870 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42708870 42708870 single base substitution G A downstream_gene_variant MELA-AU 3 42709183 42709183 single base substitution G A downstream_gene_variant MELA-AU 3 42709412 42709412 single base substitution T C downstream_gene_variant MELA-AU 3 42709675 42709675 single base substitution G A downstream_gene_variant MELA-AU 3 42709906 42709907 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 42710433 42710433 single base substitution C T downstream_gene_variant MELA-AU 3 42711274 42711274 single base substitution C T downstream_gene_variant MELA-AU 3 42712139 42712139 single base substitution C T downstream_gene_variant MELA-AU 3 42712346 42712346 single base substitution C T downstream_gene_variant MELA-AU 3 42712398 42712398 single base substitution C T downstream_gene_variant MELA-AU 3 42712758 42712758 single base substitution C T downstream_gene_variant MELA-AU 3 42713055 42713055 single base substitution C T downstream_gene_variant MELA-AU 3 42713212 42713212 single base substitution C T downstream_gene_variant MELA-AU 3 42713667 42713667 single base substitution G A downstream_gene_variant MELA-AU 3 42713673 42713673 single base substitution G A downstream_gene_variant MELA-AU 3 42713876 42713876 single base substitution G A downstream_gene_variant MELA-AU 3 42714024 42714024 single base substitution G A downstream_gene_variant MELA-AU 3 42714036 42714036 single base substitution A G downstream_gene_variant ORCA-IN 3 42699092 42699092 single base substitution G C intron_variant ORCA-IN 3 42699092 42699092 single base substitution G C upstream_gene_variant ORCA-IN 3 42701111 42701111 single base substitution G T intron_variant ORCA-IN 3 42701111 42701111 single base substitution G T missense_variant D422Y 1264G>T ORCA-IN 3 42701111 42701111 single base substitution G T missense_variant D46Y 136G>T OV-AU 3 42700838 42700838 single base substitution G A 5_prime_UTR_variant OV-AU 3 42700838 42700838 single base substitution G A intron_variant OV-AU 3 42700838 42700838 single base substitution G A missense_variant E331K 991G>A OV-AU 3 42702765 42702765 single base substitution G A intron_variant OV-AU 3 42711753 42711753 single base substitution G A downstream_gene_variant PACA-CA 3 42691195 42691195 single base substitution C G upstream_gene_variant PACA-CA 3 42701242 42701242 single base substitution C T synonymous_variant C11C 33C>T PACA-CA 3 42701242 42701242 single base substitution C T synonymous_variant C465C 1395C>T PACA-CA 3 42701242 42701242 single base substitution C T synonymous_variant C89C 267C>T PACA-CA 3 42705301 42705301 single base substitution C T missense_variant R130C 388C>T PACA-CA 3 42705301 42705301 single base substitution C T missense_variant R208C 622C>T PACA-CA 3 42705301 42705301 single base substitution C T missense_variant R584C 1750C>T PACA-CA 3 42707330 42707330 single base substitution A G 3_prime_UTR_variant PACA-CA 3 42709031 42709031 single base substitution C T 3_prime_UTR_variant PACA-CA 3 42709031 42709031 single base substitution C T downstream_gene_variant PACA-CA 3 42710952 42710952 single base substitution A T downstream_gene_variant PACA-CA 3 42712665 42712665 single base substitution C T downstream_gene_variant PAEN-AU 3 42699715 42699715 single base substitution C T intron_variant PAEN-AU 3 42699715 42699715 single base substitution C T upstream_gene_variant PAEN-IT 3 42713577 42713577 single base substitution G T downstream_gene_variant PRAD-CA 3 42707988 42707988 single base substitution G A 3_prime_UTR_variant PRAD-CA 3 42707988 42707988 single base substitution G A downstream_gene_variant PRAD-UK 3 42690862 42690862 single base substitution C T upstream_gene_variant PRAD-UK 3 42714039 42714039 single base substitution G C downstream_gene_variant PRAD-US 3 42700747 42700749 deletion of <=200bp GGA - 5_prime_UTR_variant PRAD-US 3 42700747 42700749 deletion of <=200bp GGA - inframe_deletion RE300R PRAD-US 3 42700747 42700749 deletion of <=200bp GGA - intron_variant PRAD-US 3 42704607 42704607 single base substitution G A synonymous_variant P121P 363G>A PRAD-US 3 42704607 42704607 single base substitution G A synonymous_variant P199P 597G>A PRAD-US 3 42704607 42704607 single base substitution G A synonymous_variant P575P 1725G>A RECA-EU 3 42698508 42698508 single base substitution G C intron_variant RECA-EU 3 42698508 42698508 single base substitution G C upstream_gene_variant RECA-EU 3 42700163 42700163 single base substitution C T 5_prime_UTR_variant RECA-EU 3 42700163 42700163 single base substitution C T stop_gained Q106* 316C>T RECA-EU 3 42700163 42700163 single base substitution C T upstream_gene_variant RECA-EU 3 42710377 42710377 single base substitution C A downstream_gene_variant SKCA-BR 3 42699793 42699793 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 42699793 42699793 single base substitution C T upstream_gene_variant SKCA-BR 3 42701886 42701886 single base substitution C T intron_variant SKCA-BR 3 42703262 42703262 single base substitution T C intron_variant SKCA-BR 3 42705315 42705315 single base substitution G A synonymous_variant K134K 402G>A SKCA-BR 3 42705315 42705315 single base substitution G A synonymous_variant K212K 636G>A SKCA-BR 3 42705315 42705315 single base substitution G A synonymous_variant K588K 1764G>A SKCA-BR 3 42705896 42705896 single base substitution C T missense_variant R230C 688C>T SKCA-BR 3 42705896 42705896 single base substitution C T missense_variant R308C 922C>T SKCA-BR 3 42705896 42705896 single base substitution C T missense_variant R684C 2050C>T SKCA-BR 3 42707469 42707469 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 42707469 42707469 single base substitution A C downstream_gene_variant SKCA-BR 3 42711523 42711523 single base substitution C T downstream_gene_variant SKCA-BR 3 42711895 42711895 single base substitution C T downstream_gene_variant SKCA-BR 3 42712594 42712594 single base substitution C T downstream_gene_variant SKCA-BR 3 42713572 42713572 single base substitution G A downstream_gene_variant SKCM-US 3 42700747 42700749 deletion of <=200bp GGA - 5_prime_UTR_variant SKCM-US 3 42700747 42700749 deletion of <=200bp GGA - inframe_deletion RE300R SKCM-US 3 42700747 42700749 deletion of <=200bp GGA - intron_variant SKCM-US 3 42705342 42705342 single base substitution C T synonymous_variant I143I 429C>T SKCM-US 3 42705342 42705342 single base substitution C T synonymous_variant I221I 663C>T SKCM-US 3 42705342 42705342 single base substitution C T synonymous_variant I597I 1791C>T STAD-US 3 42700986 42700986 single base substitution G T intron_variant STAD-US 3 42700986 42700986 single base substitution G T missense_variant R380L 1139G>T STAD-US 3 42700986 42700986 single base substitution G T missense_variant R4L 11G>T STAD-US 3 42701038 42701038 single base substitution G A intron_variant STAD-US 3 42701038 42701038 single base substitution G A synonymous_variant G21G 63G>A STAD-US 3 42701038 42701038 single base substitution G A synonymous_variant G397G 1191G>A STAD-US 3 42701286 42701286 single base substitution T A missense_variant L104Q 311T>A STAD-US 3 42701286 42701286 single base substitution T A missense_variant L26Q 77T>A STAD-US 3 42701286 42701286 single base substitution T A missense_variant L480Q 1439T>A STAD-US 3 42703070 42703070 single base substitution G A missense_variant E147K 439G>A STAD-US 3 42703070 42703070 single base substitution G A missense_variant E523K 1567G>A STAD-US 3 42703070 42703070 single base substitution G A missense_variant E69K 205G>A STAD-US 3 42705882 42705884 deletion of <=200bp AGG - inframe_deletion KE225K STAD-US 3 42705882 42705884 deletion of <=200bp AGG - inframe_deletion KE303K STAD-US 3 42705882 42705884 deletion of <=200bp AGG - inframe_deletion KE679K THCA-SA 3 42707281 42707281 single base substitution G A 3_prime_UTR_variant UCEC-US 3 42699892 42699892 single base substitution C T 5_prime_UTR_variant UCEC-US 3 42699892 42699892 single base substitution C T synonymous_variant C15C 45C>T UCEC-US 3 42699892 42699892 single base substitution C T upstream_gene_variant UCEC-US 3 42700001 42700001 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 42700001 42700001 single base substitution C T synonymous_variant L52L 154C>T UCEC-US 3 42700001 42700001 single base substitution C T upstream_gene_variant UCEC-US 3 42700438 42700438 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 42700438 42700438 single base substitution C T intron_variant UCEC-US 3 42700438 42700438 single base substitution C T synonymous_variant V197V 591C>T UCEC-US 3 42701216 42701216 single base substitution G A missense_variant V3M 7G>A UCEC-US 3 42701216 42701216 single base substitution G A missense_variant V457M 1369G>A UCEC-US 3 42701216 42701216 single base substitution G A missense_variant V81M 241G>A UCEC-US 3 42701258 42701258 single base substitution C T missense_variant R17C 49C>T UCEC-US 3 42701258 42701258 single base substitution C T missense_variant R471C 1411C>T UCEC-US 3 42701258 42701258 single base substitution C T missense_variant R95C 283C>T UCEC-US 3 42703063 42703063 single base substitution C A missense_variant F144L 432C>A UCEC-US 3 42703063 42703063 single base substitution C A missense_variant F520L 1560C>A UCEC-US 3 42703063 42703063 single base substitution C A missense_variant F66L 198C>A UCEC-US 3 42703109 42703109 single base substitution C T missense_variant R160C 478C>T UCEC-US 3 42703109 42703109 single base substitution C T missense_variant R536C 1606C>T UCEC-US 3 42703109 42703109 single base substitution C T missense_variant R82C 244C>T UCEC-US 3 42704520 42704520 single base substitution G A missense_variant M170I 510G>A UCEC-US 3 42704520 42704520 single base substitution G A missense_variant M546I 1638G>A UCEC-US 3 42704520 42704520 single base substitution G A missense_variant M92I 276G>A UCEC-US 3 42704541 42704541 single base substitution C T synonymous_variant C177C 531C>T UCEC-US 3 42704541 42704541 single base substitution C T synonymous_variant C553C 1659C>T UCEC-US 3 42704541 42704541 single base substitution C T synonymous_variant C99C 297C>T UCEC-US 3 42705300 42705300 single base substitution G T missense_variant E129D 387G>T UCEC-US 3 42705300 42705300 single base substitution G T missense_variant E207D 621G>T UCEC-US 3 42705300 42705300 single base substitution G T missense_variant E583D 1749G>T UCEC-US 3 42705776 42705776 single base substitution C T missense_variant R190W 568C>T UCEC-US 3 42705776 42705776 single base substitution C T missense_variant R268W 802C>T UCEC-US 3 42705776 42705776 single base substitution C T missense_variant R644W 1930C>T UCEC-US 3 42705822 42705822 single base substitution C T missense_variant P205L 614C>T UCEC-US 3 42705822 42705822 single base substitution C T missense_variant P283L 848C>T UCEC-US 3 42705822 42705822 single base substitution C T missense_variant P659L 1976C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587332 COSM1233159 c.1196G>A p.R399Q Substitution - Missense 3:42659551-42659551 + HCT15 COSM2988436 c.984A>G p.E328E Substitution - coding silent 3:42659339-42659339 + SS6003305 COSM4091151 c.850G>A p.E284K Substitution - Missense 3:42659205-42659205 + S01504 COSM4386810 c.616A>G p.S206G Substitution - Missense 3:42658971-42658971 + PD4098a COSM165672 c.1590C>T p.Y530Y Substitution - coding silent 3:42661601-42661601 + T3080 COSM4742197 c.1272delG p.A426fs*3 Deletion - Frameshift 3:42659627-42659627 + 68 COSM5744206 c.1139G>A p.R380Q Substitution - Missense 3:42659494-42659494 + HCT15 COSM2988454 c.1877A>G p.H626R Substitution - Missense 3:42663936-42663936 + TCGA-A5-A0VP-01 COSM1044747 c.1976C>T p.P659L Substitution - Missense 3:42664330-42664330 + SNU-C2B COSM4651509 c.15C>T p.N5N Substitution - coding silent 3:42658370-42658370 + ESCC_34 COSM5628474 c.638G>T p.G213V Substitution - Missense 3:42658993-42658993 + LIM2405 COSM4613603 c.1219delC p.P408fs*21 Deletion - Frameshift 3:42659574-42659574 + J76_T COSM3945473 c.432G>A p.Q144Q Substitution - coding silent 3:42658787-42658787 + ORL-48 COSM4596416 c.850_855delGAGGAG p.E293_E294delEE Deletion - In frame 3:42659205-42659210 + 1_PRE-TREATMENT COSM1720928 c.874G>A p.E292K Substitution - Missense 3:42659229-42659229 + CHC205T COSM446515 c.783A>G p.P261P Substitution - coding silent 3:42659138-42659138 + ESCC_BICR_051T COSM5444070 c.2025C>G p.L675L Substitution - coding silent 3:42664379-42664379 + HCA7 COSM4630864 c.1404C>T p.C468C Substitution - coding silent 3:42659759-42659759 + C086 COSM5541930 c.1861G>A p.E621K Substitution - Missense 3:42663920-42663920 + ESCC_BICR_051T COSM5444069 c.1685C>T p.S562F Substitution - Missense 3:42663075-42663075 + TCGA-B5-A11E-01 COSM1044736 c.154C>T p.L52L Substitution - coding silent 3:42658509-42658509 + C135 COSM4618333 c.246C>T p.N82N Substitution - coding silent 3:42658601-42658601 + LC_C21 COSM1186249 c.535C>A p.P179T Substitution - Missense 3:42658890-42658890 + YUROC COSM5399357 c.1667C>T p.S556F Substitution - Missense 3:42663057-42663057 + SH-1537 COSM5018689 c.900_902delGGA p.E307delE Deletion - In frame 3:42659255-42659257 + TCGA-AX-A0J1-01 COSM1044743 c.1638G>A p.M546I Substitution - Missense 3:42663028-42663028 + N712T COSM236618 c.1534G>T p.V512L Substitution - Missense 3:42661545-42661545 + pfg043T COSM4753763 c.1738-2A>C p.? Unknown 3:42663795-42663795 + LP6005334-DNA_C03 COSM4407633 c.1556A>C p.K519T Substitution - Missense 3:42661567-42661567 + TCGA-A5-A0GH-01 COSM1044740 c.1449G>A p.Q483Q Substitution - coding silent 3:42659804-42659804 + 1N54-VS-1T54 COSM4977010 c.1483T>A p.C495S Substitution - Missense 3:42661494-42661494 + TCGA-AB-2834-03 COSM1318679 c.990G>A p.E330E Substitution - coding silent 3:42659345-42659345 + PCSI_0171_Pa_P_526 COSM4964346 c.1395C>T p.C465C Substitution - coding silent 3:42659750-42659750 + TCGA-AP-A059-01 COSM1044745 c.1749G>T p.E583D Substitution - Missense 3:42663808-42663808 + HCT8 COSM4625091 c.1998C>T p.G666G Substitution - coding silent 3:42664352-42664352 + DLD1 COSM2988454 c.1877A>G p.H626R Substitution - Missense 3:42663936-42663936 + TCGA-C5-A1BQ-01 COSM4842129 c.805G>A p.E269K Substitution - Missense 3:42659160-42659160 + TCGA-BR-8363-01 COSM4117631 c.1191G>A p.G397G Substitution - coding silent 3:42659546-42659546 + TCGA-FJ-A3Z7-01 COSM3775025 c.1484G>A p.C495Y Substitution - Missense 3:42661495-42661495 + HCT116 COSM4612446 c.357delG p.G120fs*119 Deletion - Frameshift 3:42658712-42658712 + HCC1T COSM1617592 c.2077G>T p.G693C Substitution - Missense 3:42664431-42664431 + DLD1 COSM2988436 c.984A>G p.E328E Substitution - coding silent 3:42659339-42659339 + Pat_63_A COSM5864531 c.1166G>A p.G389D Substitution - Missense 3:42659521-42659521 + 587350 COSM1233160 c.1342C>T p.R448C Substitution - Missense 3:42659697-42659697 + sysucc-834T COSM5486355 c.2121G>A p.A707A Substitution - coding silent 3:42664475-42664475 + SNU-C1 COSM4651014 c.717C>A p.N239K Substitution - Missense 3:42659072-42659072 + LIM2405 COSM4642772 c.898C>T p.R300W Substitution - Missense 3:42659253-42659253 + PD11753a COSM5794902 c.606G>T p.G202G Substitution - coding silent 3:42658961-42658961 + TCGA-EK-A2R7-01 COSM4852180 c.1317G>C p.Q439H Substitution - Missense 3:42659672-42659672 + 2178 COSM5017144 c.469C>T p.R157C Substitution - Missense 3:42658824-42658824 + 587376 COSM1233163 c.1750C>T p.R584C Substitution - Missense 3:42663809-42663809 + TCGA-AA-3941-01 COSM296798 c.1254G>C p.P418P Substitution - coding silent 3:42659609-42659609 + NB2181 COSM4855100 c.601G>A p.G201S Substitution - Missense 3:42658956-42658956 + 587288 COSM1233164 c.131C>T p.S44L Substitution - Missense 3:42658486-42658486 + DLD1 COSM4625091 c.1998C>T p.G666G Substitution - coding silent 3:42664352-42664352 + ESCC_25 COSM5626829 c.649G>C p.E217Q Substitution - Missense 3:42659004-42659004 + TCGA-AP-A056-01 COSM1044744 c.1659C>T p.C553C Substitution - coding silent 3:42663049-42663049 + SJDES007-R1 COSM4584360 c.1509G>C p.W503C Substitution - Missense 3:42661520-42661520 + C135 COSM4618334 c.471C>T p.R157R Substitution - coding silent 3:42658826-42658826 + LS513 COSM4614589 c.1208_1210delGGC p.R403_P404>T Complex - deletion inframe 3:42659563-42659565 + TCGA-AX-A0J0-01 COSM1044737 c.591C>T p.V197V Substitution - coding silent 3:42658946-42658946 + TCGA-B5-A11E-01 COSM1044735 c.45C>T p.C15C Substitution - coding silent 3:42658400-42658400 + TCGA-EK-A2R7-01 COSM4852276 c.819G>C p.Q273H Substitution - Missense 3:42659174-42659174 + CHC340T COSM3666623 c.1863_1864insG p.H622fs*>127 Insertion - Frameshift 3:42663922-42663923 + CSCC-32-T COSM4473242 c.1839C>A p.F613L Substitution - Missense 3:42663898-42663898 + OSCC-GB_00970111 COSM4889675 c.1264G>T p.D422Y Substitution - Missense 3:42659619-42659619 + CHC340T COSM3666624 c.1864_1865insG p.H622fs*>127 Insertion - Frameshift 3:42663923-42663924 + TCGA-AP-A056-01 COSM1044742 c.1606C>T p.R536C Substitution - Missense 3:42661617-42661617 + C086 COSM5541929 c.1834G>A p.D612N Substitution - Missense 3:42663893-42663893 + TCGA-BR-6852-01 COSM4117632 c.1439T>A p.L480Q Substitution - Missense 3:42659794-42659794 + RK308_C01 COSM3767426 c.1474-5T>C p.? Unknown 3:42661480-42661480 + TCGA-AZ-6601-01 COSM1423125 c.1382G>A p.R461H Substitution - Missense 3:42659737-42659737 + TCGA-FP-A4BE-01 COSM4117633 c.1567G>A p.E523K Substitution - Missense 3:42661578-42661578 + TCGA-AP-A056-01 COSM1044741 c.1560C>A p.F520L Substitution - Missense 3:42661571-42661571 + TCGA-AA-A010-01 COSM286627 c.1668C>A p.S556S Substitution - coding silent 3:42663058-42663058 + T3225 COSM1044744 c.1659C>T p.C553C Substitution - coding silent 3:42663049-42663049 + sysucc-679T COSM5480645 c.455C>G p.P152R Substitution - Missense 3:42658810-42658810 + BN24T COSM1617591 c.1093C>T p.R365* Substitution - Nonsense 3:42659448-42659448 + CHC1736T COSM4091151 c.850G>A p.E284K Substitution - Missense 3:42659205-42659205 + PD4000a COSM165671 c.1653G>C p.E551D Substitution - Missense 3:42663043-42663043 + TCGA-D1-A17H-01 COSM1044738 c.1369G>A p.V457M Substitution - Missense 3:42659724-42659724 + TCGA-AA-A01P-01 COSM2988445 c.1550_1552delAGA p.K519delK Deletion - In frame 3:42661561-42661563 + BN24 COSM1617591 c.1093C>T p.R365* Substitution - Nonsense 3:42659448-42659448 + HCT8 COSM2988436 c.984A>G p.E328E Substitution - coding silent 3:42659339-42659339 + 587222 COSM1233158 c.218T>G p.F73C Substitution - Missense 3:42658573-42658573 + CHC205T COSM4407245 c.870A>G p.E290E Substitution - coding silent 3:42659225-42659225 + 1_RESISTANT COSM1720928 c.874G>A p.E292K Substitution - Missense 3:42659229-42659229 + TCGA-D8-A1X9-01 COSM1485181 c.144G>C p.Q48H Substitution - Missense 3:42658499-42658499 + AOCS-004-1-5 COSM4149901 c.991G>A p.E331K Substitution - Missense 3:42659346-42659346 + TCGA-24-2288-01 COSM117728 c.1771C>G p.L591V Substitution - Missense 3:42663830-42663830 + ESO-0029 COSM1270727 c.1723C>A p.P575T Substitution - Missense 3:42663113-42663113 + HCT15 COSM4625091 c.1998C>T p.G666G Substitution - coding silent 3:42664352-42664352 + TCGA-JW-A5VH-01 COSM4855100 c.601G>A p.G201S Substitution - Missense 3:42658956-42658956 + TCGA-66-2787-01 COSM730845 c.1600C>T p.H534Y Substitution - Missense 3:42661611-42661611 + sysucc-882T COSM5447560 c.884G>T p.G295V Substitution - Missense 3:42659239-42659239 + TCGA-E6-A1LZ-01 COSM1044739 c.1411C>T p.R471C Substitution - Missense 3:42659766-42659766 + C141 COSM4441495 c.1651G>A p.E551K Substitution - Missense 3:42663041-42663041 + SJHYPO056 COSM4775938 c.1854_1857delCTTC p.Y618fs*1 Deletion - Frameshift 3:42663913-42663916 + TCGA-EE-A2GO-06 COSM3594062 c.1791C>T p.I597I Substitution - coding silent 3:42663850-42663850 + T2643 COSM4742199 c.1885G>C p.E629Q Substitution - Missense 3:42664239-42664239 + 587284 COSM1233161 c.579G>T p.K193N Substitution - Missense 3:42658934-42658934 + MI4 COSM1165246 c.1933C>T p.P645S Substitution - Missense 3:42664287-42664287 + C0081T COSM4152443 c.316C>T p.Q106* Substitution - Nonsense 3:42658671-42658671 + PD24335a COSM5781298 c.255C>T p.N85N Substitution - coding silent 3:42658610-42658610 + C125 COSM4616892 c.1526A>G p.N509S Substitution - Missense 3:42661537-42661537 + TCGA-BR-4362-01 COSM4117630 c.1139G>T p.R380L Substitution - Missense 3:42659494-42659494 + T3225 COSM4742198 c.1354G>A p.E452K Substitution - Missense 3:42659709-42659709 + ATL009 COSM5708739 c.830A>G p.D277G Substitution - Missense 3:42659185-42659185 + TCGA-Q1-A73P-01 COSM4826050 c.1045G>T p.E349* Substitution - Nonsense 3:42659400-42659400 + PTC-7C COSM446515 c.783A>G p.P261P Substitution - coding silent 3:42659138-42659138 + 587234 COSM1233162 c.274G>A p.A92T Substitution - Missense 3:42658629-42658629 + TCGA-HC-A6AN-01 COSM4392894 c.1725G>A p.P575P Substitution - coding silent 3:42663115-42663115 + TCGA-BS-A0TA-01 COSM1044746 c.1930C>T p.R644W Substitution - Missense 3:42664284-42664284 + HCC1 COSM1617592 c.2077G>T p.G693C Substitution - Missense 3:42664431-42664431 + CHC1736T COSM4091151 c.850G>A p.E284K Substitution - Missense 3:42659205-42659205 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.409558;Hs.409561 3p22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.2241+1037A>G 3 42707124 HC AGG - InFrameDeletion p.E680delE c.2038_2040delGAG 3 42705882 STAD C A Missense p.P575T c.1723C>A 3 42704605 ESCA C G Missense p.L591V c.1771C>G 3 42705322 OV C T Missense p.A533V c.1598C>T 3 42703101 LUAD C T Missense p.H534Y c.1600C>T 3 42703103 LUSC C T Missense p.P659L c.1976C>T 3 42705822 UCEC C T Missense p.R471C c.1411C>T 3 42701258 UCEC C T Missense p.R644W c.1930C>T 3 42705776 UCEC C T Synonymous p.I597I c.1791C>T 3 42705342 CM C T Synonymous p.Y530Y c.1590C>T 3 42703093 BRCA CTTC - Frameshift p.Y618*fs*1 c.1854_1857delCTTC 3 42705405 ALL GAG - InFrameDeletion p.E294delE c.864_866delGGA 3 42700697 BLCA G A Missense p.V457M c.1369G>A 3 42701216 UCEC G A Synonymous p.P575P c.1725G>A 3 42704607 PRAD G C Missense p.E551D c.1653G>C 3 42704535 BRCA G C Missense p.Q48H c.144G>C 3 42699991 BRCA GGA - InFrameDeletion p.E307delE c.915_917delGGA 3 42700747 PRAD GGA - InFrameDeletion p.E307delE c.915_917delGGA 3 42700747 THCA T A Missense p.L480Q c.1439T>A 3 42701286 STAD