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 4 728727 728727 + Missense_Mutation SNP G G C TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr4:728727G>C c.117G>C c.(115-117)agG>agC p.R39S BLCA 4 737366 737366 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr4:737366C>T c.367C>T c.(367-369)Cgg>Tgg p.R123W BRCA 4 728744 728744 + Missense_Mutation SNP A A T TCGA-D8-A1JS-01A-11D-A13L-09 TCGA-D8-A1JS-10A-01D-A13O-09 g.chr4:728744A>T c.134A>T c.(133-135)tAc>tTc p.Y45F CESC 4 728784 728784 + Silent SNP G G A TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr4:728784G>A c.174G>A c.(172-174)gtG>gtA p.V58V CESC 4 758843 758843 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 g.chr4:758843G>T c.672G>T c.(670-672)tgG>tgT p.W224C COAD 4 727506 727506 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:727506G>A c.37G>A c.(37-39)Gcc>Acc p.A13T COAD 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:728799delC c.189delC c.(187-189)cacfs p.H63fs COAD 4 738412 738415 + Frame_Shift_Del DEL CAAA CAAA - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:738412_738415delCAAA c.398_401delCAAA c.(397-402)tcaaacfs p.SN133fs COAD 4 755103 755103 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr4:755103C>T c.499C>T c.(499-501)Cgc>Tgc p.R167C COADREAD 4 727506 727506 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:727506G>A c.37G>A c.(37-39)Gcc>Acc p.A13T COADREAD 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr4:728799delC c.189delC c.(187-189)cacfs p.H63fs COADREAD 4 738412 738415 + Frame_Shift_Del DEL CAAA CAAA - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr4:738412_738415delCAAA c.398_401delCAAA c.(397-402)tcaaacfs p.SN133fs COADREAD 4 755103 755103 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr4:755103C>T c.499C>T c.(499-501)Cgc>Tgc p.R167C ESCA 4 737326 737326 + Silent SNP G G A TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr4:737326G>A c.327G>A c.(325-327)aaG>aaA p.K109K HNSC 4 727519 727519 + Missense_Mutation SNP G G T TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr4:727519G>T c.50G>T c.(49-51)tGc>tTc p.C17F HNSC 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr4:728799delC c.189delC c.(187-189)cacfs p.H63fs HNSC 4 737282 737282 + Missense_Mutation SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr4:737282G>C c.283G>C c.(283-285)Gag>Cag p.E95Q HNSC 4 755157 755157 + Missense_Mutation SNP C C G TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr4:755157C>G c.553C>G c.(553-555)Ctg>Gtg p.L185V HNSC 4 755159 755159 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 g.chr4:755159G>A c.555G>A c.(553-555)ctG>ctA p.L185L LUAD 4 758795 758795 + Missense_Mutation SNP G G C TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr4:758795G>C c.624G>C c.(622-624)gaG>gaC p.E208D LUAD 4 758808 758808 + Missense_Mutation SNP G G C TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr4:758808G>C c.637G>C c.(637-639)Gac>Cac p.D213H OV 4 727539 727539 + Missense_Mutation SNP C C G TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 g.chr4:727539C>G c.70C>G c.(70-72)Ctc>Gtc p.L24V SKCM 4 737340 737340 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr4:737340C>T c.341C>T c.(340-342)tCt>tTt p.S114F SKCM 4 738458 738458 + Frame_Shift_Del DEL C C - TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr4:738458delC c.444delC c.(442-444)tacfs p.Y148fs SKCM 4 755194 755195 + Missense_Mutation DNP CC CC TT TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr4:755194_755195CC>TT c.590_591CC>TT c.(589-591)tCC>tTT p.S197F SKCM 4 758838 758838 + Missense_Mutation SNP A A T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr4:758838A>T c.667A>T c.(667-669)Agg>Tgg p.R223W

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 4 699545 699545 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BOCA-FR 4 699545 699545 single base substitution G T upstream_gene_variant BRCA-EU 4 698243 698243 single base substitution C A upstream_gene_variant BRCA-EU 4 699239 699239 single base substitution C G upstream_gene_variant BRCA-EU 4 699311 699311 single base substitution C T upstream_gene_variant BRCA-EU 4 699652 699652 single base substitution G T 5_prime_UTR_variant BRCA-EU 4 699652 699652 single base substitution G T exon_variant BRCA-EU 4 699652 699652 single base substitution G T upstream_gene_variant BRCA-EU 4 699951 699951 single base substitution G C intron_variant BRCA-EU 4 699956 699956 single base substitution C G intron_variant BRCA-EU 4 702847 702847 single base substitution C T intron_variant BRCA-EU 4 704102 704102 single base substitution G A intron_variant BRCA-EU 4 704927 704927 single base substitution G A intron_variant BRCA-EU 4 704960 704960 single base substitution C G intron_variant BRCA-EU 4 707864 707864 single base substitution G T intron_variant BRCA-EU 4 709222 709222 single base substitution G T intron_variant BRCA-EU 4 711484 711484 single base substitution A T intron_variant BRCA-EU 4 712343 712343 single base substitution G C intron_variant BRCA-EU 4 717996 717996 single base substitution G A intron_variant BRCA-EU 4 717996 717996 single base substitution G A upstream_gene_variant BRCA-EU 4 718599 718599 deletion of <=200bp A - intron_variant BRCA-EU 4 718599 718599 deletion of <=200bp A - upstream_gene_variant BRCA-EU 4 718670 718670 single base substitution G T intron_variant BRCA-EU 4 718670 718670 single base substitution G T upstream_gene_variant BRCA-EU 4 719435 719435 single base substitution G C intron_variant BRCA-EU 4 719449 719449 single base substitution G A intron_variant BRCA-EU 4 723221 723221 single base substitution T G intron_variant BRCA-EU 4 723221 723221 single base substitution T G upstream_gene_variant BRCA-EU 4 723753 723753 single base substitution C T intron_variant BRCA-EU 4 723753 723753 single base substitution C T upstream_gene_variant BRCA-EU 4 724221 724221 single base substitution T C intron_variant BRCA-EU 4 724221 724221 single base substitution T C upstream_gene_variant BRCA-EU 4 727837 727837 single base substitution G T 5_prime_UTR_variant BRCA-EU 4 727837 727837 single base substitution G T downstream_gene_variant BRCA-EU 4 727837 727837 single base substitution G T exon_variant BRCA-EU 4 727837 727837 single base substitution G T intron_variant BRCA-EU 4 727837 727837 single base substitution G T missense_variant S123I 368G>T BRCA-EU 4 728799 728799 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 4 728799 728799 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 728799 728799 deletion of <=200bp C - exon_variant BRCA-EU 4 728799 728799 deletion of <=200bp C - frameshift_variant H29 BRCA-EU 4 728799 728799 deletion of <=200bp C - frameshift_variant H63 BRCA-EU 4 729093 729093 single base substitution T C downstream_gene_variant BRCA-EU 4 729093 729093 single base substitution T C intron_variant BRCA-EU 4 731358 731358 single base substitution C T downstream_gene_variant BRCA-EU 4 731358 731358 single base substitution C T intron_variant BRCA-EU 4 733446 733446 single base substitution A G downstream_gene_variant BRCA-EU 4 733446 733446 single base substitution A G intron_variant BRCA-EU 4 733446 733446 single base substitution A G upstream_gene_variant BRCA-EU 4 734042 734042 single base substitution G A downstream_gene_variant BRCA-EU 4 734042 734042 single base substitution G A intron_variant BRCA-EU 4 734042 734042 single base substitution G A upstream_gene_variant BRCA-EU 4 734666 734666 single base substitution C T downstream_gene_variant BRCA-EU 4 734666 734666 single base substitution C T intron_variant BRCA-EU 4 734666 734666 single base substitution C T upstream_gene_variant BRCA-EU 4 734724 734724 single base substitution C T downstream_gene_variant BRCA-EU 4 734724 734724 single base substitution C T intron_variant BRCA-EU 4 734724 734724 single base substitution C T upstream_gene_variant BRCA-EU 4 735586 735586 single base substitution G A downstream_gene_variant BRCA-EU 4 735586 735586 single base substitution G A intron_variant BRCA-EU 4 735586 735586 single base substitution G A upstream_gene_variant BRCA-EU 4 736090 736090 single base substitution C T downstream_gene_variant BRCA-EU 4 736090 736090 single base substitution C T intron_variant BRCA-EU 4 736090 736090 single base substitution C T upstream_gene_variant BRCA-EU 4 738943 738943 single base substitution G C downstream_gene_variant BRCA-EU 4 738943 738943 single base substitution G C intron_variant BRCA-EU 4 738946 738946 single base substitution C G downstream_gene_variant BRCA-EU 4 738946 738946 single base substitution C G intron_variant BRCA-EU 4 741077 741077 single base substitution G T downstream_gene_variant BRCA-EU 4 741077 741077 single base substitution G T intron_variant BRCA-EU 4 741420 741420 single base substitution C G downstream_gene_variant BRCA-EU 4 741420 741420 single base substitution C G intron_variant BRCA-EU 4 742482 742482 single base substitution G C intron_variant BRCA-EU 4 742483 742483 single base substitution C T intron_variant BRCA-EU 4 742584 742584 single base substitution C T intron_variant BRCA-EU 4 742937 742937 single base substitution G T intron_variant BRCA-EU 4 744348 744348 single base substitution G A intron_variant BRCA-EU 4 744383 744383 single base substitution G A intron_variant BRCA-EU 4 745447 745447 single base substitution C G intron_variant BRCA-EU 4 745729 745729 single base substitution C T intron_variant BRCA-EU 4 747105 747105 single base substitution A G intron_variant BRCA-EU 4 750169 750169 single base substitution T G intron_variant BRCA-EU 4 751175 751175 single base substitution G A intron_variant BRCA-EU 4 751524 751524 single base substitution A G intron_variant BRCA-EU 4 752241 752241 single base substitution G C intron_variant BRCA-EU 4 752452 752452 single base substitution C G intron_variant BRCA-EU 4 752720 752720 single base substitution G C intron_variant BRCA-EU 4 755018 755018 single base substitution G A intron_variant BRCA-EU 4 755157 755157 single base substitution C A 3_prime_UTR_variant BRCA-EU 4 755157 755157 single base substitution C A downstream_gene_variant BRCA-EU 4 755157 755157 single base substitution C A missense_variant L151M 451C>A BRCA-EU 4 755157 755157 single base substitution C A missense_variant L185M 553C>A BRCA-EU 4 755322 755322 insertion of <=200bp - A downstream_gene_variant BRCA-EU 4 755322 755322 insertion of <=200bp - A intron_variant BRCA-EU 4 755484 755484 single base substitution C G downstream_gene_variant BRCA-EU 4 755484 755484 single base substitution C G intron_variant BRCA-EU 4 755823 755823 single base substitution G A downstream_gene_variant BRCA-EU 4 755823 755823 single base substitution G A intron_variant BRCA-EU 4 756067 756067 single base substitution G C downstream_gene_variant BRCA-EU 4 756067 756067 single base substitution G C intron_variant BRCA-EU 4 756525 756525 single base substitution G C downstream_gene_variant BRCA-EU 4 756525 756525 single base substitution G C intron_variant BRCA-EU 4 760724 760725 deletion of <=200bp CT - 3_prime_UTR_variant BRCA-EU 4 760724 760725 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 4 761516 761516 single base substitution C G 3_prime_UTR_variant BRCA-EU 4 761516 761516 single base substitution C G downstream_gene_variant BRCA-EU 4 761968 761968 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 761968 761968 single base substitution A T downstream_gene_variant BRCA-EU 4 763102 763102 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 763102 763102 single base substitution C T downstream_gene_variant BRCA-EU 4 763603 763603 single base substitution A T 3_prime_UTR_variant BRCA-EU 4 763603 763603 single base substitution A T downstream_gene_variant BRCA-EU 4 763948 763948 single base substitution G T 3_prime_UTR_variant BRCA-EU 4 763948 763948 single base substitution G T downstream_gene_variant BRCA-EU 4 763977 763977 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 763977 763977 single base substitution G C downstream_gene_variant BRCA-EU 4 764461 764461 single base substitution G C downstream_gene_variant BRCA-EU 4 764683 764683 single base substitution A G downstream_gene_variant BRCA-EU 4 765406 765406 single base substitution C T downstream_gene_variant BRCA-EU 4 767164 767164 single base substitution G T downstream_gene_variant BRCA-EU 4 769067 769089 deletion of <=200bp CCTGGCCTCAAGCCATACTCCCA - downstream_gene_variant BRCA-FR 4 699261 699261 single base substitution G A upstream_gene_variant BRCA-FR 4 704102 704102 single base substitution G A intron_variant BRCA-FR 4 704589 704589 single base substitution C G intron_variant BRCA-FR 4 713549 713549 single base substitution G A intron_variant BRCA-FR 4 734042 734042 single base substitution G A downstream_gene_variant BRCA-FR 4 734042 734042 single base substitution G A intron_variant BRCA-FR 4 734042 734042 single base substitution G A upstream_gene_variant BRCA-FR 4 745447 745447 single base substitution C G intron_variant BRCA-UK 4 699344 699344 single base substitution C T upstream_gene_variant BRCA-UK 4 729093 729093 single base substitution T C downstream_gene_variant BRCA-UK 4 729093 729093 single base substitution T C intron_variant BRCA-UK 4 768204 768204 single base substitution T C downstream_gene_variant BRCA-UK 4 768227 768227 single base substitution A G downstream_gene_variant BRCA-US 4 728744 728744 single base substitution A T 3_prime_UTR_variant BRCA-US 4 728744 728744 single base substitution A T downstream_gene_variant BRCA-US 4 728744 728744 single base substitution A T exon_variant BRCA-US 4 728744 728744 single base substitution A T missense_variant Y11F 32A>T BRCA-US 4 728744 728744 single base substitution A T missense_variant Y45F 134A>T BTCA-JP 4 727562 727562 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 4 727562 727562 single base substitution C T downstream_gene_variant BTCA-JP 4 727562 727562 single base substitution C T exon_variant BTCA-JP 4 727562 727562 single base substitution C T synonymous_variant T31T 93C>T BTCA-JP 4 755105 755105 single base substitution C T 3_prime_UTR_variant BTCA-JP 4 755105 755105 single base substitution C T exon_variant BTCA-JP 4 755105 755105 single base substitution C T synonymous_variant R133R 399C>T BTCA-JP 4 755105 755105 single base substitution C T synonymous_variant R167R 501C>T BTCA-JP 4 755116 755116 single base substitution G A 3_prime_UTR_variant BTCA-JP 4 755116 755116 single base substitution G A exon_variant BTCA-JP 4 755116 755116 single base substitution G A missense_variant R137Q 410G>A BTCA-JP 4 755116 755116 single base substitution G A missense_variant R171Q 512G>A BTCA-JP 4 755208 755208 single base substitution A G downstream_gene_variant BTCA-JP 4 755208 755208 single base substitution A G splice_region_variant BTCA-JP 4 755348 755348 single base substitution C T downstream_gene_variant BTCA-JP 4 755348 755348 single base substitution C T intron_variant CESC-US 4 716118 716118 single base substitution G T intron_variant CESC-US 4 716118 716118 single base substitution G T upstream_gene_variant CESC-US 4 727716 727716 single base substitution G A 5_prime_UTR_variant CESC-US 4 727716 727716 single base substitution G A downstream_gene_variant CESC-US 4 727716 727716 single base substitution G A exon_variant CESC-US 4 727716 727716 single base substitution G A intron_variant CESC-US 4 727716 727716 single base substitution G A missense_variant D83N 247G>A CESC-US 4 728784 728784 single base substitution G A 3_prime_UTR_variant CESC-US 4 728784 728784 single base substitution G A downstream_gene_variant CESC-US 4 728784 728784 single base substitution G A exon_variant CESC-US 4 728784 728784 single base substitution G A synonymous_variant V24V 72G>A CESC-US 4 728784 728784 single base substitution G A synonymous_variant V58V 174G>A CESC-US 4 758843 758843 single base substitution G T 3_prime_UTR_variant CESC-US 4 758843 758843 single base substitution G T downstream_gene_variant CESC-US 4 758843 758843 single base substitution G T missense_variant W190C 570G>T CESC-US 4 758843 758843 single base substitution G T missense_variant W224C 672G>T CLLE-ES 4 697948 697948 single base substitution C A upstream_gene_variant CLLE-ES 4 699604 699604 single base substitution C T 5_prime_UTR_variant CLLE-ES 4 699604 699604 single base substitution C T exon_variant CLLE-ES 4 699604 699604 single base substitution C T upstream_gene_variant CLLE-ES 4 701436 701436 single base substitution C T intron_variant CLLE-ES 4 715845 715845 single base substitution G A intron_variant CLLE-ES 4 715845 715845 single base substitution G A upstream_gene_variant CLLE-ES 4 716380 716380 single base substitution C A intron_variant CLLE-ES 4 716380 716380 single base substitution C A upstream_gene_variant CLLE-ES 4 734150 734150 single base substitution C T downstream_gene_variant CLLE-ES 4 734150 734150 single base substitution C T intron_variant CLLE-ES 4 734150 734150 single base substitution C T upstream_gene_variant CLLE-ES 4 741740 741740 single base substitution A T downstream_gene_variant CLLE-ES 4 741740 741740 single base substitution A T intron_variant CLLE-ES 4 750244 750244 single base substitution A C intron_variant CLLE-ES 4 764857 764857 single base substitution A C downstream_gene_variant CLLE-ES 4 769289 769289 single base substitution C G downstream_gene_variant COAD-US 4 727628 727629 deletion of <=200bp TG - downstream_gene_variant COAD-US 4 727628 727629 deletion of <=200bp TG - frameshift_variant SV53 COAD-US 4 727628 727629 deletion of <=200bp TG - intron_variant COAD-US 4 738412 738415 deletion of <=200bp CAAA - 3_prime_UTR_variant COAD-US 4 738412 738415 deletion of <=200bp CAAA - downstream_gene_variant COAD-US 4 738412 738415 deletion of <=200bp CAAA - exon_variant COAD-US 4 738412 738415 deletion of <=200bp CAAA - frameshift_variant SN133 COAD-US 4 738412 738415 deletion of <=200bp CAAA - frameshift_variant SN99 COAD-US 4 755103 755103 single base substitution C T 3_prime_UTR_variant COAD-US 4 755103 755103 single base substitution C T exon_variant COAD-US 4 755103 755103 single base substitution C T missense_variant R133C 397C>T COAD-US 4 755103 755103 single base substitution C T missense_variant R167C 499C>T COCA-CN 4 703346 703346 single base substitution G A intron_variant COCA-CN 4 716530 716530 single base substitution G A intron_variant COCA-CN 4 716530 716530 single base substitution G A upstream_gene_variant COCA-CN 4 727470 727470 single base substitution A G 5_prime_UTR_variant COCA-CN 4 727470 727470 single base substitution A G downstream_gene_variant COCA-CN 4 727470 727470 single base substitution A G exon_variant COCA-CN 4 727470 727470 single base substitution A G start_lost M1V 1A>G COCA-CN 4 727613 727613 single base substitution C T downstream_gene_variant COCA-CN 4 727613 727613 single base substitution C T intron_variant COCA-CN 4 727613 727613 single base substitution C T synonymous_variant R48R 144C>T COCA-CN 4 730460 730460 single base substitution T C downstream_gene_variant COCA-CN 4 730460 730460 single base substitution T C intron_variant COCA-CN 4 730554 730554 single base substitution A G downstream_gene_variant COCA-CN 4 730554 730554 single base substitution A G intron_variant COCA-CN 4 737454 737454 single base substitution G A downstream_gene_variant COCA-CN 4 737454 737454 single base substitution G A intron_variant COCA-CN 4 737454 737454 single base substitution G A upstream_gene_variant COCA-CN 4 758917 758917 single base substitution T G downstream_gene_variant COCA-CN 4 758917 758917 single base substitution T G intron_variant EOPC-DE 4 698899 698899 single base substitution T C upstream_gene_variant EOPC-DE 4 699990 699990 single base substitution G C intron_variant EOPC-DE 4 708760 708760 single base substitution G A intron_variant EOPC-DE 4 716938 716938 single base substitution G A intron_variant EOPC-DE 4 716938 716938 single base substitution G A upstream_gene_variant EOPC-DE 4 736345 736345 single base substitution C T intron_variant EOPC-DE 4 736345 736345 single base substitution C T upstream_gene_variant ESAD-UK 4 695134 695134 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 695717 695717 single base substitution C T upstream_gene_variant ESAD-UK 4 695797 695797 single base substitution A T upstream_gene_variant ESAD-UK 4 695814 695814 single base substitution A C upstream_gene_variant ESAD-UK 4 696400 696400 single base substitution C T upstream_gene_variant ESAD-UK 4 696534 696534 single base substitution C T upstream_gene_variant ESAD-UK 4 697727 697727 single base substitution C T upstream_gene_variant ESAD-UK 4 698793 698793 single base substitution A C upstream_gene_variant ESAD-UK 4 699436 699436 single base substitution G A upstream_gene_variant ESAD-UK 4 701896 701896 single base substitution A G intron_variant ESAD-UK 4 707182 707182 single base substitution G A intron_variant ESAD-UK 4 713293 713293 insertion of <=200bp - C intron_variant ESAD-UK 4 713735 713735 single base substitution G A intron_variant ESAD-UK 4 719311 719311 single base substitution G A intron_variant ESAD-UK 4 720065 720065 single base substitution G C intron_variant ESAD-UK 4 720065 720065 single base substitution G C upstream_gene_variant ESAD-UK 4 720378 720378 single base substitution T A intron_variant ESAD-UK 4 720378 720378 single base substitution T A upstream_gene_variant ESAD-UK 4 723704 723704 single base substitution G A intron_variant ESAD-UK 4 723704 723704 single base substitution G A upstream_gene_variant ESAD-UK 4 724814 724814 single base substitution G T 5_prime_UTR_variant ESAD-UK 4 724814 724814 single base substitution G T exon_variant ESAD-UK 4 724814 724814 single base substitution G T upstream_gene_variant ESAD-UK 4 724815 724815 single base substitution A T 5_prime_UTR_variant ESAD-UK 4 724815 724815 single base substitution A T exon_variant ESAD-UK 4 724815 724815 single base substitution A T upstream_gene_variant ESAD-UK 4 724910 724910 single base substitution C T exon_variant ESAD-UK 4 724910 724910 single base substitution C T intron_variant ESAD-UK 4 728200 728200 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 728200 728200 single base substitution G A 5_prime_UTR_variant ESAD-UK 4 728200 728200 single base substitution G A downstream_gene_variant ESAD-UK 4 728200 728200 single base substitution G A intron_variant ESAD-UK 4 729757 729757 single base substitution A G downstream_gene_variant ESAD-UK 4 729757 729757 single base substitution A G intron_variant ESAD-UK 4 729758 729758 single base substitution G C downstream_gene_variant ESAD-UK 4 729758 729758 single base substitution G C intron_variant ESAD-UK 4 729768 729768 single base substitution T C downstream_gene_variant ESAD-UK 4 729768 729768 single base substitution T C intron_variant ESAD-UK 4 731483 731483 single base substitution G A downstream_gene_variant ESAD-UK 4 731483 731483 single base substitution G A intron_variant ESAD-UK 4 733963 733963 single base substitution G A downstream_gene_variant ESAD-UK 4 733963 733963 single base substitution G A intron_variant ESAD-UK 4 733963 733963 single base substitution G A upstream_gene_variant ESAD-UK 4 734454 734454 single base substitution G T downstream_gene_variant ESAD-UK 4 734454 734454 single base substitution G T intron_variant ESAD-UK 4 734454 734454 single base substitution G T upstream_gene_variant ESAD-UK 4 735438 735438 single base substitution G A downstream_gene_variant ESAD-UK 4 735438 735438 single base substitution G A intron_variant ESAD-UK 4 735438 735438 single base substitution G A upstream_gene_variant ESAD-UK 4 735760 735760 single base substitution G A downstream_gene_variant ESAD-UK 4 735760 735760 single base substitution G A intron_variant ESAD-UK 4 735760 735760 single base substitution G A upstream_gene_variant ESAD-UK 4 736931 736931 single base substitution T A intron_variant ESAD-UK 4 736931 736931 single base substitution T A upstream_gene_variant ESAD-UK 4 736933 736933 single base substitution C G intron_variant ESAD-UK 4 736933 736933 single base substitution C G upstream_gene_variant ESAD-UK 4 746121 746121 single base substitution G A intron_variant ESAD-UK 4 746575 746575 single base substitution G A intron_variant ESAD-UK 4 746970 746970 single base substitution T C intron_variant ESAD-UK 4 751651 751651 single base substitution T G intron_variant ESAD-UK 4 751694 751694 single base substitution C T intron_variant ESAD-UK 4 753739 753739 insertion of <=200bp - CG intron_variant ESAD-UK 4 755558 755558 single base substitution G A downstream_gene_variant ESAD-UK 4 755558 755558 single base substitution G A intron_variant ESAD-UK 4 757176 757176 single base substitution C T downstream_gene_variant ESAD-UK 4 757176 757176 single base substitution C T intron_variant ESAD-UK 4 758131 758131 single base substitution G A downstream_gene_variant ESAD-UK 4 758131 758131 single base substitution G A intron_variant ESAD-UK 4 759191 759191 single base substitution A G downstream_gene_variant ESAD-UK 4 759191 759191 single base substitution A G intron_variant ESAD-UK 4 761123 761123 single base substitution C A 3_prime_UTR_variant ESAD-UK 4 761123 761123 single base substitution C A downstream_gene_variant ESAD-UK 4 761151 761151 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 761151 761151 single base substitution A G downstream_gene_variant ESAD-UK 4 761791 761791 single base substitution A C 3_prime_UTR_variant ESAD-UK 4 761791 761791 single base substitution A C downstream_gene_variant ESAD-UK 4 763070 763070 single base substitution C G 3_prime_UTR_variant ESAD-UK 4 763070 763070 single base substitution C G downstream_gene_variant ESAD-UK 4 763254 763254 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 763254 763254 single base substitution G A downstream_gene_variant ESAD-UK 4 763768 763768 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 763768 763768 single base substitution C T downstream_gene_variant ESAD-UK 4 765689 765689 single base substitution G A downstream_gene_variant ESAD-UK 4 769299 769299 insertion of <=200bp - GAGA downstream_gene_variant ESCA-CN 4 759709 759709 single base substitution A G downstream_gene_variant ESCA-CN 4 759709 759709 single base substitution A G intron_variant ESCA-CN 4 759733 759733 single base substitution T C downstream_gene_variant ESCA-CN 4 759733 759733 single base substitution T C intron_variant LAML-KR 4 698784 698784 single base substitution C A upstream_gene_variant LAML-KR 4 700577 700577 single base substitution T G intron_variant LAML-KR 4 701732 701732 single base substitution C A intron_variant LAML-KR 4 707096 707096 single base substitution A G intron_variant LAML-KR 4 709070 709070 single base substitution C T intron_variant LAML-KR 4 709348 709348 single base substitution T C intron_variant LAML-KR 4 709569 709569 single base substitution T C intron_variant LAML-KR 4 710068 710068 single base substitution A G intron_variant LAML-KR 4 710091 710091 single base substitution C T intron_variant LAML-KR 4 710111 710111 single base substitution G A intron_variant LAML-KR 4 711096 711096 single base substitution G A intron_variant LAML-KR 4 743338 743338 single base substitution A G intron_variant LAML-KR 4 749966 749966 single base substitution A G intron_variant LAML-KR 4 752129 752129 single base substitution G C intron_variant LAML-KR 4 752194 752194 single base substitution G A intron_variant LAML-KR 4 753655 753655 single base substitution G C intron_variant LAML-KR 4 753708 753708 single base substitution C G intron_variant LAML-KR 4 753740 753740 single base substitution A G intron_variant LAML-KR 4 759721 759721 single base substitution C T downstream_gene_variant LAML-KR 4 759721 759721 single base substitution C T intron_variant LAML-KR 4 768529 768529 single base substitution G A downstream_gene_variant LAML-KR 4 768595 768595 single base substitution T C downstream_gene_variant LICA-FR 4 709170 709170 single base substitution C T intron_variant LICA-FR 4 709177 709177 single base substitution C G intron_variant LICA-FR 4 709544 709544 single base substitution G A intron_variant LICA-FR 4 709569 709569 single base substitution T C intron_variant LICA-FR 4 709921 709921 single base substitution A T intron_variant LICA-FR 4 710048 710048 single base substitution C T intron_variant LICA-FR 4 710119 710119 single base substitution C T intron_variant LICA-FR 4 710998 710998 single base substitution G A intron_variant LICA-FR 4 758790 758790 single base substitution G A 3_prime_UTR_variant LICA-FR 4 758790 758790 single base substitution G A downstream_gene_variant LICA-FR 4 758790 758790 single base substitution G A missense_variant E173K 517G>A LICA-FR 4 758790 758790 single base substitution G A missense_variant E207K 619G>A LINC-JP 4 701388 701388 single base substitution T C intron_variant LINC-JP 4 708992 708992 single base substitution G T intron_variant LINC-JP 4 709683 709683 single base substitution T C intron_variant LINC-JP 4 719393 719393 single base substitution G C intron_variant LINC-JP 4 719394 719394 single base substitution T C intron_variant LINC-JP 4 725440 725440 single base substitution C A downstream_gene_variant LINC-JP 4 725440 725440 single base substitution C A intron_variant LINC-JP 4 730334 730334 single base substitution T C downstream_gene_variant LINC-JP 4 730334 730334 single base substitution T C intron_variant LINC-JP 4 738187 738187 single base substitution G A downstream_gene_variant LINC-JP 4 738187 738187 single base substitution G A intron_variant LINC-JP 4 755731 755731 single base substitution G T downstream_gene_variant LINC-JP 4 755731 755731 single base substitution G T intron_variant LINC-JP 4 758373 758373 single base substitution T G downstream_gene_variant LINC-JP 4 758373 758373 single base substitution T G intron_variant LINC-JP 4 758439 758439 single base substitution A G downstream_gene_variant LINC-JP 4 758439 758439 single base substitution A G intron_variant LINC-JP 4 758637 758637 insertion of <=200bp - C downstream_gene_variant LINC-JP 4 758637 758637 insertion of <=200bp - C intron_variant LINC-JP 4 759704 759704 single base substitution C T downstream_gene_variant LINC-JP 4 759704 759704 single base substitution C T intron_variant LINC-JP 4 762164 762164 single base substitution T C 3_prime_UTR_variant LINC-JP 4 762164 762164 single base substitution T C downstream_gene_variant LIRI-JP 4 707542 707542 single base substitution T G intron_variant LIRI-JP 4 713328 713328 single base substitution G A intron_variant LIRI-JP 4 713649 713649 single base substitution G T intron_variant LIRI-JP 4 714158 714158 single base substitution G T intron_variant LIRI-JP 4 714158 714158 single base substitution G T upstream_gene_variant LIRI-JP 4 714728 714728 single base substitution C A intron_variant LIRI-JP 4 714728 714728 single base substitution C A upstream_gene_variant LIRI-JP 4 718037 718037 single base substitution C G intron_variant LIRI-JP 4 718037 718037 single base substitution C G upstream_gene_variant LIRI-JP 4 728258 728258 single base substitution A G 3_prime_UTR_variant LIRI-JP 4 728258 728258 single base substitution A G 5_prime_UTR_variant LIRI-JP 4 728258 728258 single base substitution A G downstream_gene_variant LIRI-JP 4 728258 728258 single base substitution A G intron_variant LIRI-JP 4 732077 732078 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 4 732077 732078 deletion of <=200bp AG - intron_variant LIRI-JP 4 744687 744687 single base substitution T G intron_variant LIRI-JP 4 749176 749176 single base substitution T G intron_variant LIRI-JP 4 760329 760329 insertion of <=200bp - TTATA 3_prime_UTR_variant LIRI-JP 4 760329 760329 insertion of <=200bp - TTATA intron_variant LIRI-JP 4 760509 760512 deletion of <=200bp ACTC - 3_prime_UTR_variant LIRI-JP 4 760509 760512 deletion of <=200bp ACTC - downstream_gene_variant LIRI-JP 4 761025 761025 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 761025 761025 single base substitution G A downstream_gene_variant LIRI-JP 4 762960 762960 single base substitution G T 3_prime_UTR_variant LIRI-JP 4 762960 762960 single base substitution G T downstream_gene_variant LIRI-JP 4 763599 763599 single base substitution G T 3_prime_UTR_variant LIRI-JP 4 763599 763599 single base substitution G T downstream_gene_variant LIRI-JP 4 764074 764074 single base substitution G A 3_prime_UTR_variant LIRI-JP 4 764074 764074 single base substitution G A downstream_gene_variant LIRI-JP 4 764267 764267 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 764267 764267 single base substitution T C downstream_gene_variant LIRI-JP 4 765267 765267 single base substitution A G downstream_gene_variant LUSC-KR 4 697819 697819 single base substitution C T upstream_gene_variant LUSC-KR 4 698082 698082 single base substitution G C upstream_gene_variant LUSC-KR 4 699584 699584 single base substitution G T 5_prime_UTR_variant LUSC-KR 4 699584 699584 single base substitution G T exon_variant LUSC-KR 4 699584 699584 single base substitution G T upstream_gene_variant LUSC-KR 4 700084 700084 single base substitution T G intron_variant LUSC-KR 4 700540 700540 single base substitution A C intron_variant LUSC-KR 4 700754 700754 single base substitution T C intron_variant LUSC-KR 4 701579 701579 single base substitution T C intron_variant LUSC-KR 4 701867 701867 single base substitution C T intron_variant LUSC-KR 4 705273 705273 single base substitution T G intron_variant LUSC-KR 4 707085 707085 single base substitution A G intron_variant LUSC-KR 4 709145 709145 single base substitution T C intron_variant LUSC-KR 4 709710 709710 single base substitution G T intron_variant LUSC-KR 4 710048 710048 single base substitution C T intron_variant LUSC-KR 4 710224 710224 single base substitution C T intron_variant LUSC-KR 4 710399 710399 single base substitution G T intron_variant LUSC-KR 4 710597 710597 single base substitution T C intron_variant LUSC-KR 4 711509 711509 single base substitution G T intron_variant LUSC-KR 4 712294 712294 single base substitution G A intron_variant LUSC-KR 4 717405 717405 single base substitution G T intron_variant LUSC-KR 4 717405 717405 single base substitution G T upstream_gene_variant LUSC-KR 4 719715 719715 single base substitution A C intron_variant LUSC-KR 4 738275 738275 single base substitution C T downstream_gene_variant LUSC-KR 4 738275 738275 single base substitution C T intron_variant LUSC-KR 4 741021 741021 single base substitution C G downstream_gene_variant LUSC-KR 4 741021 741021 single base substitution C G intron_variant LUSC-KR 4 753410 753410 single base substitution G T intron_variant LUSC-KR 4 758638 758638 single base substitution C T downstream_gene_variant LUSC-KR 4 758638 758638 single base substitution C T intron_variant LUSC-KR 4 759332 759332 single base substitution C T downstream_gene_variant LUSC-KR 4 759332 759332 single base substitution C T intron_variant LUSC-KR 4 760087 760087 single base substitution C A 3_prime_UTR_variant LUSC-KR 4 760087 760087 single base substitution C A downstream_gene_variant LUSC-KR 4 760258 760258 single base substitution G T 3_prime_UTR_variant LUSC-KR 4 760258 760258 single base substitution G T intron_variant LUSC-KR 4 761371 761371 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 761371 761371 single base substitution C T downstream_gene_variant LUSC-KR 4 761911 761911 single base substitution G C 3_prime_UTR_variant LUSC-KR 4 761911 761911 single base substitution G C downstream_gene_variant MALY-DE 4 708549 708549 single base substitution A C intron_variant MALY-DE 4 708828 708828 single base substitution G A intron_variant MALY-DE 4 709200 709200 insertion of <=200bp - TG intron_variant MALY-DE 4 719615 719615 single base substitution G A intron_variant MALY-DE 4 724254 724254 single base substitution G T intron_variant MALY-DE 4 724254 724254 single base substitution G T upstream_gene_variant MALY-DE 4 729960 729960 single base substitution C T downstream_gene_variant MALY-DE 4 729960 729960 single base substitution C T intron_variant MALY-DE 4 746298 746298 single base substitution G C intron_variant MALY-DE 4 755592 755592 single base substitution A G downstream_gene_variant MALY-DE 4 755592 755592 single base substitution A G intron_variant MALY-DE 4 757441 757441 single base substitution C T downstream_gene_variant MALY-DE 4 757441 757441 single base substitution C T intron_variant MELA-AU 4 694551 694551 single base substitution C T upstream_gene_variant MELA-AU 4 694579 694579 single base substitution C T upstream_gene_variant MELA-AU 4 694688 694688 single base substitution C T upstream_gene_variant MELA-AU 4 694856 694856 single base substitution C T upstream_gene_variant MELA-AU 4 694910 694910 single base substitution A C upstream_gene_variant MELA-AU 4 695119 695119 single base substitution T C upstream_gene_variant MELA-AU 4 695136 695136 single base substitution T C upstream_gene_variant MELA-AU 4 695577 695577 single base substitution A G upstream_gene_variant MELA-AU 4 696341 696341 single base substitution G A upstream_gene_variant MELA-AU 4 697056 697056 single base substitution G A upstream_gene_variant MELA-AU 4 697136 697136 single base substitution G A upstream_gene_variant MELA-AU 4 697391 697391 single base substitution T G upstream_gene_variant MELA-AU 4 697586 697586 single base substitution G A upstream_gene_variant MELA-AU 4 697629 697629 single base substitution C T upstream_gene_variant MELA-AU 4 697740 697740 single base substitution T G upstream_gene_variant MELA-AU 4 698084 698084 single base substitution C T upstream_gene_variant MELA-AU 4 698261 698261 single base substitution G A upstream_gene_variant MELA-AU 4 698373 698373 single base substitution G A upstream_gene_variant MELA-AU 4 698611 698611 single base substitution G A upstream_gene_variant MELA-AU 4 699181 699181 single base substitution C G upstream_gene_variant MELA-AU 4 699405 699405 single base substitution C T upstream_gene_variant MELA-AU 4 699504 699504 single base substitution C T upstream_gene_variant MELA-AU 4 700093 700093 single base substitution C T intron_variant MELA-AU 4 700762 700762 single base substitution C G intron_variant MELA-AU 4 700919 700919 single base substitution G A intron_variant MELA-AU 4 701008 701008 single base substitution G A intron_variant MELA-AU 4 701062 701062 single base substitution G A intron_variant MELA-AU 4 701537 701537 single base substitution G T intron_variant MELA-AU 4 701804 701804 single base substitution C A intron_variant MELA-AU 4 701867 701867 single base substitution C T intron_variant MELA-AU 4 702383 702383 single base substitution C T intron_variant MELA-AU 4 703110 703110 single base substitution A C intron_variant MELA-AU 4 704939 704939 single base substitution G A intron_variant MELA-AU 4 705539 705540 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 705968 705969 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 706396 706396 single base substitution C A intron_variant MELA-AU 4 707180 707180 single base substitution C T intron_variant MELA-AU 4 708828 708828 single base substitution G A intron_variant MELA-AU 4 709886 709886 single base substitution G A intron_variant MELA-AU 4 711740 711740 single base substitution C T intron_variant MELA-AU 4 712050 712051 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 714828 714828 single base substitution G C intron_variant MELA-AU 4 714828 714828 single base substitution G C upstream_gene_variant MELA-AU 4 715585 715585 single base substitution A T intron_variant MELA-AU 4 715585 715585 single base substitution A T upstream_gene_variant MELA-AU 4 716971 716971 single base substitution C T intron_variant MELA-AU 4 716971 716971 single base substitution C T upstream_gene_variant MELA-AU 4 717382 717382 single base substitution C T intron_variant MELA-AU 4 717382 717382 single base substitution C T upstream_gene_variant MELA-AU 4 717955 717955 single base substitution C T intron_variant MELA-AU 4 717955 717955 single base substitution C T upstream_gene_variant MELA-AU 4 718875 718875 single base substitution C T intron_variant MELA-AU 4 718875 718875 single base substitution C T upstream_gene_variant MELA-AU 4 718999 718999 single base substitution C T 5_prime_UTR_variant MELA-AU 4 718999 718999 single base substitution C T intron_variant MELA-AU 4 719417 719417 single base substitution G T intron_variant MELA-AU 4 719885 719885 single base substitution G C intron_variant MELA-AU 4 719885 719885 single base substitution G C upstream_gene_variant MELA-AU 4 720746 720746 single base substitution C T intron_variant MELA-AU 4 720746 720746 single base substitution C T upstream_gene_variant MELA-AU 4 721977 721977 single base substitution C T intron_variant MELA-AU 4 721977 721977 single base substitution C T upstream_gene_variant MELA-AU 4 722477 722477 single base substitution C T intron_variant MELA-AU 4 722477 722477 single base substitution C T upstream_gene_variant MELA-AU 4 722598 722598 single base substitution C T intron_variant MELA-AU 4 722598 722598 single base substitution C T upstream_gene_variant MELA-AU 4 723196 723196 single base substitution C T intron_variant MELA-AU 4 723196 723196 single base substitution C T upstream_gene_variant MELA-AU 4 723257 723257 single base substitution G A intron_variant MELA-AU 4 723257 723257 single base substitution G A upstream_gene_variant MELA-AU 4 723486 723486 single base substitution C T intron_variant MELA-AU 4 723486 723486 single base substitution C T upstream_gene_variant MELA-AU 4 723803 723803 single base substitution C T intron_variant MELA-AU 4 723803 723803 single base substitution C T upstream_gene_variant MELA-AU 4 723840 723840 single base substitution C T intron_variant MELA-AU 4 723840 723840 single base substitution C T upstream_gene_variant MELA-AU 4 724382 724382 single base substitution G A intron_variant MELA-AU 4 724382 724382 single base substitution G A upstream_gene_variant MELA-AU 4 725181 725181 single base substitution C T downstream_gene_variant MELA-AU 4 725181 725181 single base substitution C T intron_variant MELA-AU 4 726525 726525 single base substitution C T downstream_gene_variant MELA-AU 4 726525 726525 single base substitution C T intron_variant MELA-AU 4 726588 726588 single base substitution C T downstream_gene_variant MELA-AU 4 726588 726588 single base substitution C T intron_variant MELA-AU 4 726816 726816 single base substitution C T downstream_gene_variant MELA-AU 4 726816 726816 single base substitution C T intron_variant MELA-AU 4 727137 727137 single base substitution C T downstream_gene_variant MELA-AU 4 727137 727137 single base substitution C T intron_variant MELA-AU 4 727444 727444 single base substitution C T downstream_gene_variant MELA-AU 4 727444 727444 single base substitution C T intron_variant MELA-AU 4 727586 727586 single base substitution C T downstream_gene_variant MELA-AU 4 727586 727586 single base substitution C T splice_region_variant MELA-AU 4 727586 727586 single base substitution C T synonymous_variant C39C 117C>T MELA-AU 4 727627 727627 single base substitution C T downstream_gene_variant MELA-AU 4 727627 727627 single base substitution C T intron_variant MELA-AU 4 727627 727627 single base substitution C T missense_variant S53F 158C>T MELA-AU 4 727746 727746 single base substitution C T 5_prime_UTR_variant MELA-AU 4 727746 727746 single base substitution C T downstream_gene_variant MELA-AU 4 727746 727746 single base substitution C T exon_variant MELA-AU 4 727746 727746 single base substitution C T intron_variant MELA-AU 4 727746 727746 single base substitution C T missense_variant H93Y 277C>T MELA-AU 4 727786 727786 single base substitution C T 5_prime_UTR_variant MELA-AU 4 727786 727786 single base substitution C T downstream_gene_variant MELA-AU 4 727786 727786 single base substitution C T exon_variant MELA-AU 4 727786 727786 single base substitution C T intron_variant MELA-AU 4 727786 727786 single base substitution C T missense_variant A106V 317C>T MELA-AU 4 727993 727993 single base substitution G A 3_prime_UTR_variant MELA-AU 4 727993 727993 single base substitution G A 5_prime_UTR_variant MELA-AU 4 727993 727993 single base substitution G A downstream_gene_variant MELA-AU 4 727993 727993 single base substitution G A intron_variant MELA-AU 4 728457 728457 single base substitution C T 3_prime_UTR_variant MELA-AU 4 728457 728457 single base substitution C T 5_prime_UTR_variant MELA-AU 4 728457 728457 single base substitution C T downstream_gene_variant MELA-AU 4 728457 728457 single base substitution C T intron_variant MELA-AU 4 729303 729303 single base substitution C T downstream_gene_variant MELA-AU 4 729303 729303 single base substitution C T intron_variant MELA-AU 4 729696 729696 single base substitution C T downstream_gene_variant MELA-AU 4 729696 729696 single base substitution C T intron_variant MELA-AU 4 729713 729713 single base substitution T C downstream_gene_variant MELA-AU 4 729713 729713 single base substitution T C intron_variant MELA-AU 4 729982 729982 single base substitution G A downstream_gene_variant MELA-AU 4 729982 729982 single base substitution G A intron_variant MELA-AU 4 730068 730068 single base substitution C A downstream_gene_variant MELA-AU 4 730068 730068 single base substitution C A intron_variant MELA-AU 4 730125 730125 single base substitution C T downstream_gene_variant MELA-AU 4 730125 730125 single base substitution C T intron_variant MELA-AU 4 730444 730444 single base substitution C T downstream_gene_variant MELA-AU 4 730444 730444 single base substitution C T intron_variant MELA-AU 4 730511 730511 single base substitution C T downstream_gene_variant MELA-AU 4 730511 730511 single base substitution C T intron_variant MELA-AU 4 731391 731391 single base substitution C T downstream_gene_variant MELA-AU 4 731391 731391 single base substitution C T intron_variant MELA-AU 4 731438 731438 single base substitution C T downstream_gene_variant MELA-AU 4 731438 731438 single base substitution C T intron_variant MELA-AU 4 731473 731473 single base substitution C T downstream_gene_variant MELA-AU 4 731473 731473 single base substitution C T intron_variant MELA-AU 4 731611 731611 single base substitution C T downstream_gene_variant MELA-AU 4 731611 731611 single base substitution C T intron_variant MELA-AU 4 731618 731618 single base substitution C T downstream_gene_variant MELA-AU 4 731618 731618 single base substitution C T intron_variant MELA-AU 4 731874 731874 single base substitution C T downstream_gene_variant MELA-AU 4 731874 731874 single base substitution C T intron_variant MELA-AU 4 732339 732339 single base substitution C T downstream_gene_variant MELA-AU 4 732339 732339 single base substitution C T intron_variant MELA-AU 4 732503 732503 single base substitution C T downstream_gene_variant MELA-AU 4 732503 732503 single base substitution C T intron_variant MELA-AU 4 732615 732615 single base substitution C T downstream_gene_variant MELA-AU 4 732615 732615 single base substitution C T intron_variant MELA-AU 4 732691 732691 single base substitution A T downstream_gene_variant MELA-AU 4 732691 732691 single base substitution A T intron_variant MELA-AU 4 732691 732691 single base substitution A T upstream_gene_variant MELA-AU 4 732749 732749 single base substitution C T downstream_gene_variant MELA-AU 4 732749 732749 single base substitution C T intron_variant MELA-AU 4 732749 732749 single base substitution C T upstream_gene_variant MELA-AU 4 732879 732879 single base substitution C T downstream_gene_variant MELA-AU 4 732879 732879 single base substitution C T intron_variant MELA-AU 4 732879 732879 single base substitution C T upstream_gene_variant MELA-AU 4 733553 733553 single base substitution G A downstream_gene_variant MELA-AU 4 733553 733553 single base substitution G A intron_variant MELA-AU 4 733553 733553 single base substitution G A upstream_gene_variant MELA-AU 4 733589 733589 single base substitution C T downstream_gene_variant MELA-AU 4 733589 733589 single base substitution C T intron_variant MELA-AU 4 733589 733589 single base substitution C T upstream_gene_variant MELA-AU 4 734187 734187 single base substitution C T downstream_gene_variant MELA-AU 4 734187 734187 single base substitution C T intron_variant MELA-AU 4 734187 734187 single base substitution C T upstream_gene_variant MELA-AU 4 734413 734413 single base substitution C T downstream_gene_variant MELA-AU 4 734413 734413 single base substitution C T intron_variant MELA-AU 4 734413 734413 single base substitution C T upstream_gene_variant MELA-AU 4 734459 734459 single base substitution C T downstream_gene_variant MELA-AU 4 734459 734459 single base substitution C T intron_variant MELA-AU 4 734459 734459 single base substitution C T upstream_gene_variant MELA-AU 4 734552 734552 single base substitution C T downstream_gene_variant MELA-AU 4 734552 734552 single base substitution C T intron_variant MELA-AU 4 734552 734552 single base substitution C T upstream_gene_variant MELA-AU 4 734696 734696 single base substitution G A downstream_gene_variant MELA-AU 4 734696 734696 single base substitution G A intron_variant MELA-AU 4 734696 734696 single base substitution G A upstream_gene_variant MELA-AU 4 734855 734855 single base substitution C T downstream_gene_variant MELA-AU 4 734855 734855 single base substitution C T intron_variant MELA-AU 4 734855 734855 single base substitution C T upstream_gene_variant MELA-AU 4 735652 735652 single base substitution C T downstream_gene_variant MELA-AU 4 735652 735652 single base substitution C T intron_variant MELA-AU 4 735652 735652 single base substitution C T upstream_gene_variant MELA-AU 4 736138 736138 single base substitution G A downstream_gene_variant MELA-AU 4 736138 736138 single base substitution G A intron_variant MELA-AU 4 736138 736138 single base substitution G A upstream_gene_variant MELA-AU 4 741674 741674 single base substitution T C downstream_gene_variant MELA-AU 4 741674 741674 single base substitution T C intron_variant MELA-AU 4 741951 741951 single base substitution A C downstream_gene_variant MELA-AU 4 741951 741951 single base substitution A C intron_variant MELA-AU 4 742652 742652 single base substitution C T intron_variant MELA-AU 4 742963 742963 single base substitution C T intron_variant MELA-AU 4 743209 743209 single base substitution C T intron_variant MELA-AU 4 743888 743888 single base substitution C T intron_variant MELA-AU 4 744038 744038 single base substitution C T intron_variant MELA-AU 4 744952 744952 single base substitution C G intron_variant MELA-AU 4 745659 745659 single base substitution C T intron_variant MELA-AU 4 745728 745728 single base substitution C T intron_variant MELA-AU 4 746277 746277 single base substitution C T intron_variant MELA-AU 4 746918 746918 single base substitution C T intron_variant MELA-AU 4 747047 747047 single base substitution C T intron_variant MELA-AU 4 748032 748032 single base substitution C T intron_variant MELA-AU 4 748102 748102 single base substitution C T intron_variant MELA-AU 4 748338 748338 single base substitution G A intron_variant MELA-AU 4 748506 748506 single base substitution G A intron_variant MELA-AU 4 748712 748712 single base substitution C T intron_variant MELA-AU 4 749202 749202 single base substitution G A intron_variant MELA-AU 4 749213 749213 single base substitution C T intron_variant MELA-AU 4 749736 749736 single base substitution C T intron_variant MELA-AU 4 750050 750050 single base substitution G C intron_variant MELA-AU 4 750361 750361 single base substitution T A intron_variant MELA-AU 4 750795 750795 single base substitution C A intron_variant MELA-AU 4 750795 750795 single base substitution C T intron_variant MELA-AU 4 751905 751905 single base substitution G A intron_variant MELA-AU 4 752132 752133 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 4 752154 752154 single base substitution C T intron_variant MELA-AU 4 752614 752614 single base substitution G A intron_variant MELA-AU 4 753843 753843 single base substitution C T intron_variant MELA-AU 4 754215 754215 single base substitution G A intron_variant MELA-AU 4 754637 754637 single base substitution T C intron_variant MELA-AU 4 754671 754671 single base substitution C T intron_variant MELA-AU 4 754690 754690 single base substitution C T intron_variant MELA-AU 4 754954 754954 single base substitution C T intron_variant MELA-AU 4 755926 755926 single base substitution C T downstream_gene_variant MELA-AU 4 755926 755926 single base substitution C T intron_variant MELA-AU 4 755950 755950 single base substitution G A downstream_gene_variant MELA-AU 4 755950 755950 single base substitution G A intron_variant MELA-AU 4 756242 756242 single base substitution C T downstream_gene_variant MELA-AU 4 756242 756242 single base substitution C T intron_variant MELA-AU 4 756605 756605 single base substitution A T downstream_gene_variant MELA-AU 4 756605 756605 single base substitution A T intron_variant MELA-AU 4 758154 758155 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 758154 758155 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 758232 758233 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 4 758232 758233 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 759129 759129 single base substitution G A downstream_gene_variant MELA-AU 4 759129 759129 single base substitution G A intron_variant MELA-AU 4 759615 759615 single base substitution G A downstream_gene_variant MELA-AU 4 759615 759615 single base substitution G A intron_variant MELA-AU 4 760736 760736 single base substitution T C 3_prime_UTR_variant MELA-AU 4 760736 760736 single base substitution T C downstream_gene_variant MELA-AU 4 762202 762202 single base substitution G A 3_prime_UTR_variant MELA-AU 4 762202 762202 single base substitution G A downstream_gene_variant MELA-AU 4 764532 764532 single base substitution T A downstream_gene_variant MELA-AU 4 768294 768294 single base substitution A G downstream_gene_variant MELA-AU 4 768637 768637 single base substitution T A downstream_gene_variant ORCA-IN 4 695134 695134 deletion of <=200bp T - upstream_gene_variant ORCA-IN 4 708760 708760 single base substitution G T intron_variant ORCA-IN 4 724262 724262 insertion of <=200bp - G intron_variant ORCA-IN 4 724262 724262 insertion of <=200bp - G upstream_gene_variant ORCA-IN 4 728804 728804 single base substitution T A 3_prime_UTR_variant ORCA-IN 4 728804 728804 single base substitution T A downstream_gene_variant ORCA-IN 4 728804 728804 single base substitution T A exon_variant ORCA-IN 4 728804 728804 single base substitution T A missense_variant L31Q 92T>A ORCA-IN 4 728804 728804 single base substitution T A missense_variant L65Q 194T>A OV-AU 4 697828 697828 single base substitution C T upstream_gene_variant OV-AU 4 699862 699862 single base substitution G T intron_variant OV-AU 4 701672 701672 single base substitution G A intron_variant OV-AU 4 704622 704622 single base substitution G A intron_variant OV-AU 4 710271 710271 single base substitution T C intron_variant OV-AU 4 711229 711229 single base substitution C T intron_variant OV-AU 4 713412 713412 single base substitution T G intron_variant OV-AU 4 713747 713747 single base substitution C T intron_variant OV-AU 4 722782 722782 single base substitution G A intron_variant OV-AU 4 722782 722782 single base substitution G A upstream_gene_variant OV-AU 4 722837 722837 single base substitution C T intron_variant OV-AU 4 722837 722837 single base substitution C T upstream_gene_variant OV-AU 4 722988 722988 single base substitution G T intron_variant OV-AU 4 722988 722988 single base substitution G T upstream_gene_variant OV-AU 4 735620 735620 single base substitution A G downstream_gene_variant OV-AU 4 735620 735620 single base substitution A G intron_variant OV-AU 4 735620 735620 single base substitution A G upstream_gene_variant OV-AU 4 737366 737366 single base substitution C T 3_prime_UTR_variant OV-AU 4 737366 737366 single base substitution C T downstream_gene_variant OV-AU 4 737366 737366 single base substitution C T missense_variant R123W 367C>T OV-AU 4 737366 737366 single base substitution C T missense_variant R89W 265C>T OV-AU 4 737366 737366 single base substitution C T upstream_gene_variant OV-AU 4 744113 744113 single base substitution G A intron_variant OV-AU 4 748526 748526 single base substitution G T intron_variant OV-AU 4 749183 749183 single base substitution C G intron_variant OV-AU 4 751252 751252 single base substitution G T intron_variant OV-AU 4 752062 752062 single base substitution G T intron_variant OV-AU 4 753694 753694 single base substitution C G intron_variant OV-AU 4 756011 756011 single base substitution A C downstream_gene_variant OV-AU 4 756011 756011 single base substitution A C intron_variant OV-AU 4 760169 760169 single base substitution C T 3_prime_UTR_variant OV-AU 4 760321 760321 single base substitution G C 3_prime_UTR_variant OV-AU 4 760321 760321 single base substitution G C intron_variant OV-AU 4 761347 761347 single base substitution G C 3_prime_UTR_variant OV-AU 4 761347 761347 single base substitution G C downstream_gene_variant OV-AU 4 762457 762457 single base substitution G C 3_prime_UTR_variant OV-AU 4 762457 762457 single base substitution G C downstream_gene_variant OV-AU 4 768548 768548 single base substitution C A downstream_gene_variant OV-AU 4 769387 769387 single base substitution G C downstream_gene_variant PACA-AU 4 695878 695878 single base substitution G T upstream_gene_variant PACA-AU 4 700754 700754 single base substitution T C intron_variant PACA-AU 4 709294 709294 single base substitution G T intron_variant PACA-AU 4 721536 721536 single base substitution C G intron_variant PACA-AU 4 721536 721536 single base substitution C G upstream_gene_variant PACA-AU 4 724475 724475 single base substitution G A intron_variant PACA-AU 4 724475 724475 single base substitution G A upstream_gene_variant PACA-AU 4 725329 725329 single base substitution T C downstream_gene_variant PACA-AU 4 725329 725329 single base substitution T C intron_variant PACA-AU 4 726839 726860 deletion of <=200bp GCCCCTGCCGCGTGCTGCCTCC - downstream_gene_variant PACA-AU 4 726839 726860 deletion of <=200bp GCCCCTGCCGCGTGCTGCCTCC - intron_variant PACA-AU 4 727020 727020 single base substitution G A downstream_gene_variant PACA-AU 4 727020 727020 single base substitution G A intron_variant PACA-AU 4 732651 732654 deletion of <=200bp AAAT - downstream_gene_variant PACA-AU 4 732651 732654 deletion of <=200bp AAAT - intron_variant PACA-AU 4 732651 732654 deletion of <=200bp AAAT - upstream_gene_variant PACA-AU 4 735930 735930 single base substitution G A downstream_gene_variant PACA-AU 4 735930 735930 single base substitution G A intron_variant PACA-AU 4 735930 735930 single base substitution G A upstream_gene_variant PACA-AU 4 737142 737142 single base substitution T C intron_variant PACA-AU 4 737142 737142 single base substitution T C upstream_gene_variant PACA-AU 4 743687 743687 single base substitution C T intron_variant PACA-AU 4 749620 749620 single base substitution T C intron_variant PACA-AU 4 751854 751854 single base substitution G A intron_variant PACA-AU 4 757576 757616 deletion of <=200bp AAACCTGGAAGCGACCAAGATGCCCTTCAGTAGATAAGTGG - downstream_gene_variant PACA-AU 4 757576 757616 deletion of <=200bp AAACCTGGAAGCGACCAAGATGCCCTTCAGTAGATAAGTGG - intron_variant PACA-AU 4 759008 759008 single base substitution T G downstream_gene_variant PACA-AU 4 759008 759008 single base substitution T G intron_variant PACA-CA 4 701453 701453 single base substitution T C intron_variant PACA-CA 4 702421 702439 deletion of <=200bp CCTCGTCCGGGGCTGCTGT - intron_variant PACA-CA 4 705723 705723 single base substitution A G intron_variant PACA-CA 4 708959 708959 single base substitution G A intron_variant PACA-CA 4 709072 709072 single base substitution A G intron_variant PACA-CA 4 709175 709175 single base substitution A G intron_variant PACA-CA 4 709762 709762 single base substitution A T intron_variant PACA-CA 4 709832 709832 single base substitution C T intron_variant PACA-CA 4 709875 709875 single base substitution A G intron_variant PACA-CA 4 717631 717631 single base substitution C T intron_variant PACA-CA 4 717631 717631 single base substitution C T upstream_gene_variant PACA-CA 4 717907 717907 single base substitution G T intron_variant PACA-CA 4 717907 717907 single base substitution G T upstream_gene_variant PACA-CA 4 718970 718970 single base substitution G A 5_prime_UTR_variant PACA-CA 4 718970 718970 single base substitution G A intron_variant PACA-CA 4 719509 719509 single base substitution T C intron_variant PACA-CA 4 720523 720523 single base substitution T C intron_variant PACA-CA 4 720523 720523 single base substitution T C upstream_gene_variant PACA-CA 4 724102 724102 single base substitution C T intron_variant PACA-CA 4 724102 724102 single base substitution C T upstream_gene_variant PACA-CA 4 724360 724360 single base substitution G A intron_variant PACA-CA 4 724360 724360 single base substitution G A upstream_gene_variant PACA-CA 4 725159 725159 single base substitution G A downstream_gene_variant PACA-CA 4 725159 725159 single base substitution G A intron_variant PACA-CA 4 728734 728734 single base substitution C T 3_prime_UTR_variant PACA-CA 4 728734 728734 single base substitution C T downstream_gene_variant PACA-CA 4 728734 728734 single base substitution C T exon_variant PACA-CA 4 728734 728734 single base substitution C T synonymous_variant L42L 124C>T PACA-CA 4 728734 728734 single base substitution C T synonymous_variant L8L 22C>T PACA-CA 4 731625 731625 single base substitution C G downstream_gene_variant PACA-CA 4 731625 731625 single base substitution C G intron_variant PACA-CA 4 732831 732831 single base substitution C T downstream_gene_variant PACA-CA 4 732831 732831 single base substitution C T intron_variant PACA-CA 4 732831 732831 single base substitution C T upstream_gene_variant PACA-CA 4 736111 736111 single base substitution G A downstream_gene_variant PACA-CA 4 736111 736111 single base substitution G A intron_variant PACA-CA 4 736111 736111 single base substitution G A upstream_gene_variant PACA-CA 4 743714 743714 single base substitution C A intron_variant PACA-CA 4 746366 746382 deletion of <=200bp GGAGTGAGGTGGGGGAC - intron_variant PACA-CA 4 750618 750618 single base substitution G A intron_variant PACA-CA 4 751202 751202 single base substitution G T intron_variant PACA-CA 4 752436 752436 single base substitution C G intron_variant PACA-CA 4 752456 752456 single base substitution G T intron_variant PACA-CA 4 752601 752601 single base substitution G C intron_variant PACA-CA 4 755426 755426 single base substitution A G downstream_gene_variant PACA-CA 4 755426 755426 single base substitution A G intron_variant PACA-CA 4 755615 755615 single base substitution G A downstream_gene_variant PACA-CA 4 755615 755615 single base substitution G A intron_variant PACA-CA 4 756667 756667 single base substitution G A downstream_gene_variant PACA-CA 4 756667 756667 single base substitution G A intron_variant PACA-CA 4 762274 762274 single base substitution T A 3_prime_UTR_variant PACA-CA 4 762274 762274 single base substitution T A downstream_gene_variant PACA-CA 4 762936 762936 single base substitution G A 3_prime_UTR_variant PACA-CA 4 762936 762936 single base substitution G A downstream_gene_variant PACA-CA 4 767096 767096 single base substitution A G downstream_gene_variant PAEN-AU 4 701669 701669 single base substitution T C intron_variant PAEN-AU 4 708842 708842 single base substitution G A intron_variant PAEN-AU 4 709786 709786 single base substitution C T intron_variant PAEN-AU 4 709789 709789 single base substitution C G intron_variant PAEN-AU 4 715364 715364 single base substitution A C intron_variant PAEN-AU 4 715364 715364 single base substitution A C upstream_gene_variant PAEN-AU 4 729997 729997 single base substitution C T downstream_gene_variant PAEN-AU 4 729997 729997 single base substitution C T intron_variant PAEN-AU 4 732999 732999 single base substitution T G downstream_gene_variant PAEN-AU 4 732999 732999 single base substitution T G intron_variant PAEN-AU 4 732999 732999 single base substitution T G upstream_gene_variant PAEN-IT 4 711546 711546 single base substitution G T intron_variant PAEN-IT 4 715687 715687 single base substitution G A intron_variant PAEN-IT 4 715687 715687 single base substitution G A upstream_gene_variant PAEN-IT 4 721965 721965 single base substitution G A intron_variant PAEN-IT 4 721965 721965 single base substitution G A upstream_gene_variant PAEN-IT 4 733598 733598 single base substitution C T downstream_gene_variant PAEN-IT 4 733598 733598 single base substitution C T intron_variant PAEN-IT 4 733598 733598 single base substitution C T upstream_gene_variant PAEN-IT 4 750536 750536 single base substitution C T intron_variant PAEN-IT 4 752288 752288 single base substitution G C intron_variant PAEN-IT 4 763179 763179 single base substitution G A 3_prime_UTR_variant PAEN-IT 4 763179 763179 single base substitution G A downstream_gene_variant PBCA-DE 4 697455 697455 single base substitution T G upstream_gene_variant PBCA-DE 4 701428 701428 single base substitution G A intron_variant PBCA-DE 4 701491 701491 insertion of <=200bp - T intron_variant PBCA-DE 4 701561 701561 single base substitution C T intron_variant PBCA-DE 4 701563 701563 insertion of <=200bp - T intron_variant PBCA-DE 4 701599 701599 insertion of <=200bp - T intron_variant PBCA-DE 4 701743 701743 insertion of <=200bp - T intron_variant PBCA-DE 4 703344 703344 single base substitution G A intron_variant PBCA-DE 4 707010 707010 single base substitution C T intron_variant PBCA-DE 4 707012 707012 single base substitution T C intron_variant PBCA-DE 4 707013 707013 single base substitution G A intron_variant PBCA-DE 4 707294 707294 single base substitution C T intron_variant PBCA-DE 4 707323 707325 deletion of <=200bp CTG - intron_variant PBCA-DE 4 708959 708959 single base substitution G A intron_variant PBCA-DE 4 709175 709175 single base substitution A G intron_variant PBCA-DE 4 709200 709200 insertion of <=200bp - TG intron_variant PBCA-DE 4 709218 709218 single base substitution G A intron_variant PBCA-DE 4 709943 709943 insertion of <=200bp - TG intron_variant PBCA-DE 4 710912 710912 single base substitution A G intron_variant PBCA-DE 4 716379 716379 deletion of <=200bp G - intron_variant PBCA-DE 4 716379 716379 deletion of <=200bp G - upstream_gene_variant PBCA-DE 4 720517 720517 insertion of <=200bp - T intron_variant PBCA-DE 4 720517 720517 insertion of <=200bp - T upstream_gene_variant PBCA-DE 4 721299 721299 single base substitution G T intron_variant PBCA-DE 4 721299 721299 single base substitution G T upstream_gene_variant PBCA-DE 4 725374 725374 insertion of <=200bp - AG downstream_gene_variant PBCA-DE 4 725374 725374 insertion of <=200bp - AG intron_variant PBCA-DE 4 726870 726870 single base substitution C G downstream_gene_variant PBCA-DE 4 726870 726870 single base substitution C G intron_variant PBCA-DE 4 730446 730446 single base substitution A G downstream_gene_variant PBCA-DE 4 730446 730446 single base substitution A G intron_variant PBCA-DE 4 733335 733335 single base substitution T A downstream_gene_variant PBCA-DE 4 733335 733335 single base substitution T A intron_variant PBCA-DE 4 733335 733335 single base substitution T A upstream_gene_variant PBCA-DE 4 749407 749407 single base substitution C A intron_variant PBCA-DE 4 749668 749668 insertion of <=200bp - TCAT intron_variant PBCA-DE 4 750954 750954 deletion of <=200bp C - intron_variant PBCA-DE 4 752227 752229 deletion of <=200bp TTC - intron_variant PBCA-DE 4 762426 762426 single base substitution A C 3_prime_UTR_variant PBCA-DE 4 762426 762426 single base substitution A C downstream_gene_variant PBCA-DE 4 763416 763416 single base substitution G A 3_prime_UTR_variant PBCA-DE 4 763416 763416 single base substitution G A downstream_gene_variant PRAD-CA 4 701633 701633 single base substitution T C intron_variant PRAD-CA 4 701840 701840 single base substitution A C intron_variant PRAD-CA 4 708805 708805 single base substitution A T intron_variant PRAD-CA 4 708871 708871 single base substitution G A intron_variant PRAD-CA 4 708959 708959 single base substitution G A intron_variant PRAD-CA 4 719351 719351 single base substitution C G intron_variant PRAD-CA 4 719352 719352 single base substitution C T intron_variant PRAD-CA 4 725440 725440 single base substitution C A downstream_gene_variant PRAD-CA 4 725440 725440 single base substitution C A intron_variant PRAD-CA 4 741501 741501 single base substitution G A downstream_gene_variant PRAD-CA 4 741501 741501 single base substitution G A intron_variant PRAD-CA 4 748029 748029 single base substitution G T intron_variant PRAD-CA 4 752229 752229 single base substitution C G intron_variant PRAD-UK 4 700177 700243 deletion of <=200bp CAGGGAGGGCAAGACCCCAGCCCAGGCAGGACTCCGGGAGGTCGAAGACCCCAGCCCAGGCAGGACC - intron_variant PRAD-UK 4 720039 720039 single base substitution T C intron_variant PRAD-UK 4 720039 720039 single base substitution T C upstream_gene_variant PRAD-UK 4 720403 720403 single base substitution G C intron_variant PRAD-UK 4 720403 720403 single base substitution G C upstream_gene_variant PRAD-UK 4 722379 722379 single base substitution C T intron_variant PRAD-UK 4 722379 722379 single base substitution C T upstream_gene_variant PRAD-UK 4 725888 725888 single base substitution C T downstream_gene_variant PRAD-UK 4 725888 725888 single base substitution C T intron_variant PRAD-UK 4 728324 728324 single base substitution G A 3_prime_UTR_variant PRAD-UK 4 728324 728324 single base substitution G A 5_prime_UTR_variant PRAD-UK 4 728324 728324 single base substitution G A downstream_gene_variant PRAD-UK 4 728324 728324 single base substitution G A intron_variant PRAD-UK 4 733487 733487 single base substitution C T downstream_gene_variant PRAD-UK 4 733487 733487 single base substitution C T intron_variant PRAD-UK 4 733487 733487 single base substitution C T upstream_gene_variant PRAD-UK 4 752648 752648 single base substitution C G intron_variant PRAD-UK 4 753741 753741 single base substitution C T intron_variant PRAD-UK 4 762609 762609 single base substitution T G 3_prime_UTR_variant PRAD-UK 4 762609 762609 single base substitution T G downstream_gene_variant PRAD-UK 4 767269 767269 single base substitution G A downstream_gene_variant PRAD-UK 4 768277 768287 multiple base substitution (>=2bp and <=200bp) AGCCATCGAGA AAC downstream_gene_variant PRAD-UK 4 768696 768696 single base substitution C G downstream_gene_variant RECA-EU 4 695203 695203 single base substitution C T upstream_gene_variant RECA-EU 4 698390 698390 single base substitution C T upstream_gene_variant RECA-EU 4 698679 698679 single base substitution G A upstream_gene_variant RECA-EU 4 701295 701295 single base substitution T A intron_variant RECA-EU 4 702510 702510 single base substitution G C intron_variant RECA-EU 4 703610 703610 single base substitution G A intron_variant RECA-EU 4 710359 710359 single base substitution C T intron_variant RECA-EU 4 715891 715891 single base substitution G T intron_variant RECA-EU 4 715891 715891 single base substitution G T upstream_gene_variant RECA-EU 4 728479 728479 single base substitution C T 3_prime_UTR_variant RECA-EU 4 728479 728479 single base substitution C T 5_prime_UTR_variant RECA-EU 4 728479 728479 single base substitution C T downstream_gene_variant RECA-EU 4 728479 728479 single base substitution C T intron_variant RECA-EU 4 729034 729034 single base substitution T A downstream_gene_variant RECA-EU 4 729034 729034 single base substitution T A intron_variant RECA-EU 4 749506 749506 single base substitution C T intron_variant RECA-EU 4 757415 757415 single base substitution C T downstream_gene_variant RECA-EU 4 757415 757415 single base substitution C T intron_variant RECA-EU 4 759744 759744 single base substitution C A downstream_gene_variant RECA-EU 4 759744 759744 single base substitution C A intron_variant RECA-EU 4 761702 761702 single base substitution T A 3_prime_UTR_variant RECA-EU 4 761702 761702 single base substitution T A downstream_gene_variant RECA-EU 4 768204 768204 single base substitution T C downstream_gene_variant RECA-EU 4 768504 768504 single base substitution G T downstream_gene_variant SKCA-BR 4 695762 695762 insertion of <=200bp - CAAAGA upstream_gene_variant SKCA-BR 4 696208 696208 single base substitution C T upstream_gene_variant SKCA-BR 4 696898 696898 single base substitution G A upstream_gene_variant SKCA-BR 4 696899 696899 single base substitution G A upstream_gene_variant SKCA-BR 4 697407 697407 single base substitution A G upstream_gene_variant SKCA-BR 4 697462 697462 single base substitution T G upstream_gene_variant SKCA-BR 4 698292 698292 single base substitution A G upstream_gene_variant SKCA-BR 4 699490 699490 single base substitution T C upstream_gene_variant SKCA-BR 4 699495 699495 single base substitution G C upstream_gene_variant SKCA-BR 4 699500 699500 single base substitution T C upstream_gene_variant SKCA-BR 4 700084 700084 single base substitution T G intron_variant SKCA-BR 4 700090 700090 single base substitution A G intron_variant SKCA-BR 4 700186 700220 deletion of <=200bp CAAGACCCCAGCCCAGGCAGGACTCCGGGAGGTCG - intron_variant SKCA-BR 4 701275 701275 insertion of <=200bp - CT intron_variant SKCA-BR 4 701285 701285 single base substitution G A intron_variant SKCA-BR 4 701291 701291 insertion of <=200bp - CT intron_variant SKCA-BR 4 701300 701300 single base substitution A C intron_variant SKCA-BR 4 701752 701752 single base substitution G A intron_variant SKCA-BR 4 705234 705243 deletion of <=200bp TTTTTTTTTC - intron_variant SKCA-BR 4 705242 705243 deletion of <=200bp TC - intron_variant SKCA-BR 4 705740 705740 single base substitution G A intron_variant SKCA-BR 4 706346 706346 single base substitution C T intron_variant SKCA-BR 4 707038 707038 single base substitution G A intron_variant SKCA-BR 4 708647 708647 single base substitution C T intron_variant SKCA-BR 4 708891 708891 single base substitution T A intron_variant SKCA-BR 4 709420 709420 single base substitution T G intron_variant SKCA-BR 4 709496 709496 single base substitution C T intron_variant SKCA-BR 4 710119 710119 single base substitution C T intron_variant SKCA-BR 4 710269 710269 single base substitution T C intron_variant SKCA-BR 4 710340 710342 deletion of <=200bp TGC - intron_variant SKCA-BR 4 710784 710784 single base substitution G T intron_variant SKCA-BR 4 710801 710801 single base substitution T G intron_variant SKCA-BR 4 711084 711084 single base substitution A G intron_variant SKCA-BR 4 713068 713068 single base substitution T C intron_variant SKCA-BR 4 715375 715375 single base substitution C T intron_variant SKCA-BR 4 715375 715375 single base substitution C T upstream_gene_variant SKCA-BR 4 716314 716314 insertion of <=200bp - CG intron_variant SKCA-BR 4 716314 716314 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 4 716315 716315 single base substitution A C intron_variant SKCA-BR 4 716315 716315 single base substitution A C upstream_gene_variant SKCA-BR 4 716327 716327 single base substitution T C intron_variant SKCA-BR 4 716327 716327 single base substitution T C upstream_gene_variant SKCA-BR 4 719467 719467 single base substitution C T intron_variant SKCA-BR 4 720469 720469 single base substitution C T intron_variant SKCA-BR 4 720469 720469 single base substitution C T upstream_gene_variant SKCA-BR 4 721565 721565 single base substitution G A intron_variant SKCA-BR 4 721565 721565 single base substitution G A upstream_gene_variant SKCA-BR 4 723652 723652 single base substitution C T intron_variant SKCA-BR 4 723652 723652 single base substitution C T upstream_gene_variant SKCA-BR 4 726870 726870 single base substitution C G downstream_gene_variant SKCA-BR 4 726870 726870 single base substitution C G intron_variant SKCA-BR 4 727739 727739 single base substitution G A 5_prime_UTR_variant SKCA-BR 4 727739 727739 single base substitution G A downstream_gene_variant SKCA-BR 4 727739 727739 single base substitution G A exon_variant SKCA-BR 4 727739 727739 single base substitution G A intron_variant SKCA-BR 4 727739 727739 single base substitution G A synonymous_variant K90K 270G>A SKCA-BR 4 727975 727975 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 727975 727975 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 4 727975 727975 single base substitution C T downstream_gene_variant SKCA-BR 4 727975 727975 single base substitution C T intron_variant SKCA-BR 4 727975 727975 single base substitution C T missense_variant S169F 506C>T SKCA-BR 4 729303 729303 single base substitution C T downstream_gene_variant SKCA-BR 4 729303 729303 single base substitution C T intron_variant SKCA-BR 4 729324 729326 deletion of <=200bp ACT - downstream_gene_variant SKCA-BR 4 729324 729326 deletion of <=200bp ACT - intron_variant SKCA-BR 4 730445 730445 single base substitution C T downstream_gene_variant SKCA-BR 4 730445 730445 single base substitution C T intron_variant SKCA-BR 4 731143 731143 single base substitution C T downstream_gene_variant SKCA-BR 4 731143 731143 single base substitution C T intron_variant SKCA-BR 4 731828 731828 single base substitution T C downstream_gene_variant SKCA-BR 4 731828 731828 single base substitution T C intron_variant SKCA-BR 4 732287 732287 single base substitution G A downstream_gene_variant SKCA-BR 4 732287 732287 single base substitution G A intron_variant SKCA-BR 4 732288 732288 single base substitution G A downstream_gene_variant SKCA-BR 4 732288 732288 single base substitution G A intron_variant SKCA-BR 4 732299 732299 single base substitution G A downstream_gene_variant SKCA-BR 4 732299 732299 single base substitution G A intron_variant SKCA-BR 4 732415 732415 single base substitution A G downstream_gene_variant SKCA-BR 4 732415 732415 single base substitution A G intron_variant SKCA-BR 4 735102 735102 single base substitution C T downstream_gene_variant SKCA-BR 4 735102 735102 single base substitution C T intron_variant SKCA-BR 4 735102 735102 single base substitution C T upstream_gene_variant SKCA-BR 4 736510 736510 single base substitution T G intron_variant SKCA-BR 4 736510 736510 single base substitution T G upstream_gene_variant SKCA-BR 4 736814 736814 single base substitution T G intron_variant SKCA-BR 4 736814 736814 single base substitution T G upstream_gene_variant SKCA-BR 4 740903 740903 single base substitution C T downstream_gene_variant SKCA-BR 4 740903 740903 single base substitution C T intron_variant SKCA-BR 4 741394 741394 single base substitution G C downstream_gene_variant SKCA-BR 4 741394 741394 single base substitution G C intron_variant SKCA-BR 4 741971 741971 single base substitution C T downstream_gene_variant SKCA-BR 4 741971 741971 single base substitution C T intron_variant SKCA-BR 4 743259 743259 single base substitution C T intron_variant SKCA-BR 4 743882 743882 single base substitution C T intron_variant SKCA-BR 4 745112 745112 single base substitution C T intron_variant SKCA-BR 4 745871 745871 single base substitution C T intron_variant SKCA-BR 4 748207 748207 single base substitution G A intron_variant SKCA-BR 4 752332 752332 single base substitution G A intron_variant SKCA-BR 4 753408 753408 single base substitution G A intron_variant SKCA-BR 4 757260 757260 single base substitution G A downstream_gene_variant SKCA-BR 4 757260 757260 single base substitution G A intron_variant SKCA-BR 4 758000 758000 single base substitution C T downstream_gene_variant SKCA-BR 4 758000 758000 single base substitution C T intron_variant SKCA-BR 4 758373 758373 single base substitution T G downstream_gene_variant SKCA-BR 4 758373 758373 single base substitution T G intron_variant SKCA-BR 4 758387 758387 single base substitution T G downstream_gene_variant SKCA-BR 4 758387 758387 single base substitution T G intron_variant SKCA-BR 4 759025 759025 single base substitution T A downstream_gene_variant SKCA-BR 4 759025 759025 single base substitution T A intron_variant SKCA-BR 4 761053 761053 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 761053 761053 single base substitution C T downstream_gene_variant SKCA-BR 4 762020 762020 single base substitution C G 3_prime_UTR_variant SKCA-BR 4 762020 762020 single base substitution C G downstream_gene_variant SKCA-BR 4 766282 766282 single base substitution T G downstream_gene_variant SKCA-BR 4 766282 766284 deletion of <=200bp TTC - downstream_gene_variant SKCA-BR 4 768014 768014 single base substitution A G downstream_gene_variant SKCA-BR 4 769262 769262 single base substitution A C downstream_gene_variant SKCM-US 4 737340 737340 single base substitution C T 3_prime_UTR_variant SKCM-US 4 737340 737340 single base substitution C T downstream_gene_variant SKCM-US 4 737340 737340 single base substitution C T missense_variant S114F 341C>T SKCM-US 4 737340 737340 single base substitution C T missense_variant S80F 239C>T SKCM-US 4 737340 737340 single base substitution C T upstream_gene_variant SKCM-US 4 738458 738458 deletion of <=200bp C - 3_prime_UTR_variant SKCM-US 4 738458 738458 deletion of <=200bp C - downstream_gene_variant SKCM-US 4 738458 738458 deletion of <=200bp C - exon_variant SKCM-US 4 738458 738458 deletion of <=200bp C - frameshift_variant Y114 SKCM-US 4 738458 738458 deletion of <=200bp C - frameshift_variant Y148 SKCM-US 4 758838 758838 single base substitution A T 3_prime_UTR_variant SKCM-US 4 758838 758838 single base substitution A T downstream_gene_variant SKCM-US 4 758838 758838 single base substitution A T missense_variant R189W 565A>T SKCM-US 4 758838 758838 single base substitution A T missense_variant R223W 667A>T STAD-US 4 727522 727522 single base substitution G A 5_prime_UTR_variant STAD-US 4 727522 727522 single base substitution G A downstream_gene_variant STAD-US 4 727522 727522 single base substitution G A exon_variant STAD-US 4 727522 727522 single base substitution G A missense_variant R18H 53G>A STAD-US 4 727562 727562 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 727562 727562 single base substitution C T downstream_gene_variant STAD-US 4 727562 727562 single base substitution C T exon_variant STAD-US 4 727562 727562 single base substitution C T synonymous_variant T31T 93C>T STAD-US 4 728799 728799 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 4 728799 728799 deletion of <=200bp C - downstream_gene_variant STAD-US 4 728799 728799 deletion of <=200bp C - exon_variant STAD-US 4 728799 728799 deletion of <=200bp C - frameshift_variant H29 STAD-US 4 728799 728799 deletion of <=200bp C - frameshift_variant H63 STAD-US 4 731294 731294 single base substitution A G 3_prime_UTR_variant STAD-US 4 731294 731294 single base substitution A G downstream_gene_variant STAD-US 4 731294 731294 single base substitution A G exon_variant STAD-US 4 731294 731294 single base substitution A G synonymous_variant V48V 144A>G STAD-US 4 731294 731294 single base substitution A G synonymous_variant V82V 246A>G STAD-US 4 737367 737367 single base substitution G A 3_prime_UTR_variant STAD-US 4 737367 737367 single base substitution G A downstream_gene_variant STAD-US 4 737367 737367 single base substitution G A missense_variant R123Q 368G>A STAD-US 4 737367 737367 single base substitution G A missense_variant R89Q 266G>A STAD-US 4 737367 737367 single base substitution G A upstream_gene_variant STAD-US 4 755175 755175 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 4 755175 755175 deletion of <=200bp A - downstream_gene_variant STAD-US 4 755175 755175 deletion of <=200bp A - frameshift_variant K157 STAD-US 4 755175 755175 deletion of <=200bp A - frameshift_variant K191 THCA-SA 4 760258 760258 single base substitution G T 3_prime_UTR_variant THCA-SA 4 760258 760258 single base substitution G T intron_variant THCA-SA 4 761371 761371 single base substitution C T 3_prime_UTR_variant THCA-SA 4 761371 761371 single base substitution C T downstream_gene_variant THCA-SA 4 761850 761850 single base substitution T C 3_prime_UTR_variant THCA-SA 4 761850 761850 single base substitution T C downstream_gene_variant UCEC-US 4 727506 727506 single base substitution G A 5_prime_UTR_variant UCEC-US 4 727506 727506 single base substitution G A downstream_gene_variant UCEC-US 4 727506 727506 single base substitution G A exon_variant UCEC-US 4 727506 727506 single base substitution G A missense_variant A13T 37G>A UCEC-US 4 727520 727520 single base substitution C T 5_prime_UTR_variant UCEC-US 4 727520 727520 single base substitution C T downstream_gene_variant UCEC-US 4 727520 727520 single base substitution C T exon_variant UCEC-US 4 727520 727520 single base substitution C T synonymous_variant C17C 51C>T UCEC-US 4 727528 727528 single base substitution G A 5_prime_UTR_variant UCEC-US 4 727528 727528 single base substitution G A downstream_gene_variant UCEC-US 4 727528 727528 single base substitution G A exon_variant UCEC-US 4 727528 727528 single base substitution G A missense_variant C20Y 59G>A UCEC-US 4 728731 728731 single base substitution T A 3_prime_UTR_variant UCEC-US 4 728731 728731 single base substitution T A downstream_gene_variant UCEC-US 4 728731 728731 single base substitution T A exon_variant UCEC-US 4 728731 728731 single base substitution T A missense_variant C41S 121T>A UCEC-US 4 728731 728731 single base substitution T A missense_variant C7S 19T>A UCEC-US 4 728731 728731 single base substitution T A synonymous_variant ?41 UCEC-US 4 728734 728734 single base substitution C A 3_prime_UTR_variant UCEC-US 4 728734 728734 single base substitution C A downstream_gene_variant UCEC-US 4 728734 728734 single base substitution C A exon_variant UCEC-US 4 728734 728734 single base substitution C A missense_variant L42M 124C>A UCEC-US 4 728734 728734 single base substitution C A missense_variant L8M 22C>A UCEC-US 4 737366 737366 single base substitution C T 3_prime_UTR_variant UCEC-US 4 737366 737366 single base substitution C T downstream_gene_variant UCEC-US 4 737366 737366 single base substitution C T missense_variant R123W 367C>T UCEC-US 4 737366 737366 single base substitution C T missense_variant R89W 265C>T UCEC-US 4 737366 737366 single base substitution C T upstream_gene_variant UCEC-US 4 738424 738424 single base substitution C T 3_prime_UTR_variant UCEC-US 4 738424 738424 single base substitution C T downstream_gene_variant UCEC-US 4 738424 738424 single base substitution C T exon_variant UCEC-US 4 738424 738424 single base substitution C T missense_variant A103V 308C>T UCEC-US 4 738424 738424 single base substitution C T missense_variant A137V 410C>T UCEC-US 4 755105 755105 single base substitution C T 3_prime_UTR_variant UCEC-US 4 755105 755105 single base substitution C T exon_variant UCEC-US 4 755105 755105 single base substitution C T synonymous_variant R133R 399C>T UCEC-US 4 755105 755105 single base substitution C T synonymous_variant R167R 501C>T UCEC-US 4 755194 755194 single base substitution C T 3_prime_UTR_variant UCEC-US 4 755194 755194 single base substitution C T downstream_gene_variant UCEC-US 4 755194 755194 single base substitution C T missense_variant S163F 488C>T UCEC-US 4 755194 755194 single base substitution C T missense_variant S197F 590C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DA-A1IC-06 COSM3605646 c.341C>T p.S114F Substitution - Missense 4:743552-743552 + PCSI_0093_Pa_X COSM3380977 c.124C>T p.L42L Substitution - coding silent 4:734945-734945 + TCGA-BR-7707-01 COSM4125815 c.93C>T p.T31T Substitution - coding silent 4:733773-733773 + TCGA-D5-6930-01 COSM1430854 c.398_401delCAAA p.N134fs*21 Deletion - Frameshift 4:744624-744627 + T2940 COSM178053 c.189delC p.L65fs*26 Deletion - Frameshift 4:735010-735010 + 71M COSM5595964 c.177C>T p.I59I Substitution - coding silent 4:734998-734998 + TCGA-AP-A051-01 COSM300490 c.37G>A p.A13T Substitution - Missense 4:733717-733717 + TCGA-IR-A3LI-01 COSM4846397 c.174G>A p.V58V Substitution - coding silent 4:734995-734995 + AD30 COSM5966408 c.722T>C p.L241S Substitution - Missense 4:766072-766072 + TCGA-AP-A059-01 COSM1057507 c.501C>T p.R167R Substitution - coding silent 4:761317-761317 + EGC8 COSM178053 c.189delC p.L65fs*26 Deletion - Frameshift 4:735010-735010 + SNUH_G16_S1 COSM4003135 c.525C>T p.R175R Substitution - coding silent 4:761341-761341 + TCGA-BR-8382-01 COSM4125814 c.53G>A p.R18H Substitution - Missense 4:733733-733733 + TCGA-BR-6452-01 COSM4125828 c.246A>G p.V82V Substitution - coding silent 4:737505-737505 + TCGA-AP-A059-01 COSM1057217 c.124C>A p.L42M Substitution - Missense 4:734945-734945 + TCGA-EE-A2A2-06 COSM3605795 c.667A>T p.R223W Substitution - Missense 4:765050-765050 + TCGA-AX-A05S-01 COSM1057215 c.59G>A p.C20Y Substitution - Missense 4:733739-733739 + HCA46 COSM4629512 c.391G>C p.D131H Substitution - Missense 4:744617-744617 + TCGA-BS-A0UV-01 COSM1057295 c.367C>T p.R123W Substitution - Missense 4:743578-743578 + TCGA-A5-A0R8-01 COSM1057216 c.121T>A p.C41S Substitution - Missense 4:734942-734942 + TCGA-D8-A1JS-01 COSM1486084 c.134A>T p.Y45F Substitution - Missense 4:734955-734955 + SNUH_G10_S1 COSM4003135 c.525C>T p.R175R Substitution - coding silent 4:761341-761341 + ATL037 COSM5709329 c.105C>G p.H35Q Substitution - Missense 4:733785-733785 + TCGA-A6-6781-01 COSM1430916 c.499C>T p.R167C Substitution - Missense 4:761315-761315 + OSCC-GB_00350111 COSM3714893 c.194T>A p.L65Q Substitution - Missense 4:735015-735015 + CSCC-7-T COSM1057296 c.410C>T p.A137V Substitution - Missense 4:744636-744636 + BD121T COSM5514990 c.600+4A>G p.? Unknown 4:761420-761420 + PD10014a COSM5769897 c.553C>A p.L185M Substitution - Missense 4:761369-761369 + LUAD-CHTN-MAD06-00668 COSM359875 c.227A>T p.D76V Substitution - Missense 4:737486-737486 + TCGA-D1-A103-01 COSM1057296 c.410C>T p.A137V Substitution - Missense 4:744636-744636 + 587338 COSM1219731 c.692T>C p.L231P Substitution - Missense 4:766042-766042 + 35T COSM3714893 c.194T>A p.L65Q Substitution - Missense 4:735015-735015 + 61 COSM5736869 c.113G>A p.C38Y Substitution - Missense 4:734934-734934 + DLD1 COSM4625339 c.108C>A p.T36T Substitution - coding silent 4:733788-733788 + AOCS-125-1-2 COSM1057295 c.367C>T p.R123W Substitution - Missense 4:743578-743578 + LIM1899 COSM178053 c.189delC p.L65fs*26 Deletion - Frameshift 4:735010-735010 + HCC2998 COSM4342900 c.543C>T p.T181T Substitution - coding silent 4:761359-761359 + TCGA-EA-A43B-01 COSM4821884 c.672G>T p.W224C Substitution - Missense 4:765055-765055 + TCGA-CJ-5684-01 COSM481501 c.552T>C p.H184H Substitution - coding silent 4:761368-761368 + BD236T COSM5518501 c.512G>A p.R171Q Substitution - Missense 4:761328-761328 + BCM399T COSM4950038 c.619G>A p.E207K Substitution - Missense 4:765002-765002 + PT29 COSM5906502 c.544G>C p.V182L Substitution - Missense 4:761360-761360 + SW48 COSM4616016 c.414_416delGGA p.E140delE Deletion - In frame 4:744640-744642 + sysucc-1317T COSM5450017 c.1A>G p.M1V Substitution - Missense 4:733681-733681 + pfg008T COSM1642516 c.34A>G p.N12D Substitution - Missense 4:733714-733714 + TCGA-61-1915-01 COSM1328418 c.70C>G p.L24V Substitution - Missense 4:733750-733750 + pfg008T COSM1642516 c.34A>G p.N12D Substitution - Missense 4:733714-733714 + TCGA-CD-A4MG-01 COSM4125846 c.368G>A p.R123Q Substitution - Missense 4:743579-743579 + LUAD_E00522 COSM353298 c.270G>A p.M90I Substitution - Missense 4:743481-743481 + TCGA-AA-A022-01 COSM300490 c.37G>A p.A13T Substitution - Missense 4:733717-733717 + BD6T COSM4125815 c.93C>T p.T31T Substitution - coding silent 4:733773-733773 + LUAD-5V8LT COSM402423 c.282G>T p.R94S Substitution - Missense 4:743493-743493 + 1010 COSM5730539 c.109+9C>T p.? Unknown 4:733798-733798 + TCGA-D1-A15X-01 COSM1057508 c.590C>T p.S197F Substitution - Missense 4:761406-761406 + BCM399T COSM4950038 c.619G>A p.E207K Substitution - Missense 4:765002-765002 + TCGA-BG-A0MQ-01 COSM1057214 c.51C>T p.C17C Substitution - coding silent 4:733731-733731 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.144309 4p16.3 2394046|CGAP|BC107061|C/T|non-coding||1056|Candidate; 2394051|CGAP|BC107061|G/T|non-coding||1163|Confirmed

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.726+2562A>C 4 762426 MB A G Missense p.N12D c.34A>G 4 727503 STAD A T Missense p.R223W c.667A>T 4 758838 CM A T Missense p.Y45F c.134A>T 4 728744 BRCA C - Frameshift p.H149Tfs*7 c.445delC 4 738458 CM C - Frameshift p.L65Cfs*26 c.193delC 4 728799 HNSC C - Frameshift p.L65Cfs*26 c.193delC 4 728799 STAD C G Missense p.L185V c.553C>G 4 755157 HNSC C T Missense p.S114F c.341C>T 4 737340 CM C T Synonymous p.C17C c.51C>T 4 727520 UCEC G A 3-UTRSNV . c.726+3552G>A 4 763416 MB G A Missense p.C20Y c.59G>A 4 727528 UCEC G A Synonymous p.L185L c.555G>A 4 755159 HNSC G C Missense p.E95Q c.283G>C 4 737282 HNSC G T 3-UTRSNV . c.726+3096G>T 4 762960 HC T A Missense p.C41S c.121T>A 4 728731 UCEC - TTATA 3-UTRInsertion . c.726+466_726+467insTATAT 4 760329 HC