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 103722656 103722656 + Missense_Mutation SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr4:103722656C>G c.259G>C c.(259-261)Gat>Cat p.D87H BLCA 4 103723730 103723730 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr4:103723730G>C c.186C>G c.(184-186)ttC>ttG p.F62L BLCA 4 103723730 103723730 + Missense_Mutation SNP G G C TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr4:103723730G>C c.186C>G c.(184-186)ttC>ttG p.F62L BLCA 4 103747657 103747657 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr4:103747657C>T c.9G>A c.(7-9)ctG>ctA p.L3L BRCA 4 103720655 103720655 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:103720655G>T c.307C>A c.(307-309)Ctt>Att p.L103I BRCA 4 103730974 103730974 + Missense_Mutation SNP A A C TCGA-E9-A24A-01A-11D-A167-09 TCGA-E9-A24A-10A-01D-A167-09 g.chr4:103730974A>C c.63T>G c.(61-63)tgT>tgG p.C21W COADREAD 4 103747646 103747646 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:103747646T>C c.20A>G c.(19-21)aAt>aGt p.N7S DLBC 4 103720570 103720570 + Missense_Mutation SNP C C T TCGA-FF-A7CQ-01A-11D-A382-10 TCGA-FF-A7CQ-10A-01D-A385-10 g.chr4:103720570C>T c.392G>A c.(391-393)aGa>aAa p.R131K ESCA 4 103720600 103720600 + Missense_Mutation SNP G G A TCGA-IG-A8O2-01A-11D-A36J-09 TCGA-IG-A8O2-10A-01D-A36M-09 g.chr4:103720600G>A c.362C>T c.(361-363)cCa>cTa p.P121L ESCA 4 103720628 103720628 + Missense_Mutation SNP C C G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr4:103720628C>G c.334G>C c.(334-336)Gat>Cat p.D112H KIPAN 4 103723780 103723780 + Nonsense_Mutation SNP G G A TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr4:103723780G>A c.136C>T c.(136-138)Caa>Taa p.Q46* KIRC 4 103723780 103723780 + Nonsense_Mutation SNP G G A TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr4:103723780G>A c.136C>T c.(136-138)Caa>Taa p.Q46* LIHC 4 103720567 103720568 + Frame_Shift_Del DEL TC TC - TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr4:103720567_103720568delTC c.394_395delGA c.(394-396)gatfs p.D132fs LIHC 4 103722609 103722609 + Splice_Site SNP A A C TCGA-CC-5259-01A-31D-A20W-10 TCGA-CC-5259-10A-01D-A20W-10 g.chr4:103722609A>C c.e6+1 LIHC 4 103730836 103730837 + Frame_Shift_Ins INS - - T TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr4:103730836_103730837insT c.112_113insA c.(112-114)atgfs p.M38fs LUAD 4 103722680 103722681 + Frame_Shift_Ins INS - - A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr4:103722680_103722681insA c.234_235insT c.(232-237)attaacfs p.N79fs LUAD 4 103723775 103723775 + Silent SNP G G A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr4:103723775G>A c.141C>T c.(139-141)ggC>ggT p.G47G LUAD 4 103723778 103723778 + Missense_Mutation SNP T T G TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr4:103723778T>G c.138A>C c.(136-138)caA>caC p.Q46H LUAD 4 103730964 103730964 + Missense_Mutation SNP G G A TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr4:103730964G>A c.73C>T c.(73-75)Cca>Tca p.P25S OV 4 103730993 103730993 + Missense_Mutation SNP C C T TCGA-61-1907-01A-01W-0639-09 TCGA-61-1907-11A-01W-0640-09 g.chr4:103730993C>T c.44G>A c.(43-45)cGt>cAt p.R15H PRAD 4 103720584 103720584 + Silent SNP G G T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 g.chr4:103720584G>T c.378C>A c.(376-378)atC>atA p.I126I READ 4 103747646 103747646 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:103747646T>C c.20A>G c.(19-21)aAt>aGt p.N7S SKCM 4 103723739 103723739 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr4:103723739G>A c.177C>T c.(175-177)gaC>gaT p.D59D SKCM 4 103723746 103723746 + Missense_Mutation SNP G G C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:103723746G>C c.170C>G c.(169-171)cCt>cGt p.P57R SKCM 4 103723747 103723747 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr4:103723747G>A c.169C>T c.(169-171)Cct>Tct p.P57S SKCM 4 103730987 103730987 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:103730987G>A c.50C>T c.(49-51)cCt>cTt p.P17L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 4 103723730 103723730 single base substitution G C 3_prime_UTR_variant BLCA-US 4 103723730 103723730 single base substitution G C downstream_gene_variant BLCA-US 4 103723730 103723730 single base substitution G C exon_variant BLCA-US 4 103723730 103723730 single base substitution G C missense_variant F33L 99C>G BLCA-US 4 103723730 103723730 single base substitution G C missense_variant F56L 168C>G BLCA-US 4 103723730 103723730 single base substitution G C missense_variant F62L 186C>G BLCA-US 4 103723730 103723730 single base substitution G C missense_variant F64L 192C>G BLCA-US 4 103730859 103730859 single base substitution C A 3_prime_UTR_variant BLCA-US 4 103730859 103730859 single base substitution C A missense_variant M24I 72G>T BLCA-US 4 103730859 103730859 single base substitution C A missense_variant M30I 90G>T BLCA-US 4 103730859 103730859 single base substitution C A missense_variant M32I 96G>T BLCA-US 4 103730859 103730859 single base substitution C A splice_region_variant BLCA-US 4 103730859 103730859 single base substitution C A start_lost M1I 3G>T BRCA-EU 4 103710801 103710801 single base substitution C G downstream_gene_variant BRCA-EU 4 103711175 103711175 single base substitution C T downstream_gene_variant BRCA-EU 4 103711712 103711712 single base substitution C T downstream_gene_variant BRCA-EU 4 103712336 103712336 single base substitution T A downstream_gene_variant BRCA-EU 4 103714509 103714509 single base substitution T C downstream_gene_variant BRCA-EU 4 103714794 103714794 single base substitution C T downstream_gene_variant BRCA-EU 4 103715296 103715296 single base substitution A T downstream_gene_variant BRCA-EU 4 103715494 103715494 single base substitution C G downstream_gene_variant BRCA-EU 4 103715690 103715690 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 103715690 103715690 single base substitution C T downstream_gene_variant BRCA-EU 4 103715822 103715822 single base substitution A C 3_prime_UTR_variant BRCA-EU 4 103715822 103715822 single base substitution A C downstream_gene_variant BRCA-EU 4 103716211 103716211 single base substitution C T 3_prime_UTR_variant BRCA-EU 4 103716211 103716211 single base substitution C T downstream_gene_variant BRCA-EU 4 103716731 103716731 single base substitution T C 3_prime_UTR_variant BRCA-EU 4 103716731 103716731 single base substitution T C downstream_gene_variant BRCA-EU 4 103718189 103718189 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 103718189 103718189 single base substitution G C downstream_gene_variant BRCA-EU 4 103718189 103718189 single base substitution G C exon_variant BRCA-EU 4 103718218 103718218 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 4 103718218 103718218 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 103718218 103718218 deletion of <=200bp T - exon_variant BRCA-EU 4 103723274 103723274 single base substitution T C downstream_gene_variant BRCA-EU 4 103723274 103723274 single base substitution T C exon_variant BRCA-EU 4 103723274 103723274 single base substitution T C intron_variant BRCA-EU 4 103723463 103723463 single base substitution T G downstream_gene_variant BRCA-EU 4 103723463 103723463 single base substitution T G exon_variant BRCA-EU 4 103723463 103723463 single base substitution T G intron_variant BRCA-EU 4 103723965 103723965 single base substitution A G intron_variant BRCA-EU 4 103723965 103723965 single base substitution A G upstream_gene_variant BRCA-EU 4 103725387 103725387 single base substitution C T downstream_gene_variant BRCA-EU 4 103725387 103725387 single base substitution C T intron_variant BRCA-EU 4 103725387 103725387 single base substitution C T upstream_gene_variant BRCA-EU 4 103725402 103725402 single base substitution G A downstream_gene_variant BRCA-EU 4 103725402 103725402 single base substitution G A intron_variant BRCA-EU 4 103725402 103725402 single base substitution G A upstream_gene_variant BRCA-EU 4 103727560 103727560 single base substitution C G downstream_gene_variant BRCA-EU 4 103727560 103727560 single base substitution C G intron_variant BRCA-EU 4 103727560 103727560 single base substitution C G upstream_gene_variant BRCA-EU 4 103727623 103727623 single base substitution C T downstream_gene_variant BRCA-EU 4 103727623 103727623 single base substitution C T intron_variant BRCA-EU 4 103727623 103727623 single base substitution C T upstream_gene_variant BRCA-EU 4 103727757 103727757 single base substitution C G downstream_gene_variant BRCA-EU 4 103727757 103727757 single base substitution C G intron_variant BRCA-EU 4 103727757 103727757 single base substitution C G upstream_gene_variant BRCA-EU 4 103727810 103727810 single base substitution C G downstream_gene_variant BRCA-EU 4 103727810 103727810 single base substitution C G intron_variant BRCA-EU 4 103727810 103727810 single base substitution C G upstream_gene_variant BRCA-EU 4 103727815 103727815 single base substitution C G downstream_gene_variant BRCA-EU 4 103727815 103727815 single base substitution C G intron_variant BRCA-EU 4 103727815 103727815 single base substitution C G upstream_gene_variant BRCA-EU 4 103727992 103727992 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 103727992 103727992 deletion of <=200bp C - intron_variant BRCA-EU 4 103727992 103727992 deletion of <=200bp C - upstream_gene_variant BRCA-EU 4 103728658 103728658 single base substitution C G downstream_gene_variant BRCA-EU 4 103728658 103728658 single base substitution C G intron_variant BRCA-EU 4 103728658 103728658 single base substitution C G upstream_gene_variant BRCA-EU 4 103729024 103729024 single base substitution C G downstream_gene_variant BRCA-EU 4 103729024 103729024 single base substitution C G intron_variant BRCA-EU 4 103729111 103729111 single base substitution T C downstream_gene_variant BRCA-EU 4 103729111 103729111 single base substitution T C intron_variant BRCA-EU 4 103729489 103729489 single base substitution G C downstream_gene_variant BRCA-EU 4 103729489 103729489 single base substitution G C intron_variant BRCA-EU 4 103731402 103731402 single base substitution C G exon_variant BRCA-EU 4 103731402 103731402 single base substitution C G intron_variant BRCA-EU 4 103731402 103731402 single base substitution C G upstream_gene_variant BRCA-EU 4 103732062 103732062 single base substitution C T exon_variant BRCA-EU 4 103732062 103732062 single base substitution C T intron_variant BRCA-EU 4 103732062 103732062 single base substitution C T upstream_gene_variant BRCA-EU 4 103732637 103732637 single base substitution A G exon_variant BRCA-EU 4 103732637 103732637 single base substitution A G intron_variant BRCA-EU 4 103732637 103732637 single base substitution A G upstream_gene_variant BRCA-EU 4 103733765 103733765 single base substitution T C exon_variant BRCA-EU 4 103733765 103733765 single base substitution T C intron_variant BRCA-EU 4 103733765 103733765 single base substitution T C upstream_gene_variant BRCA-EU 4 103734075 103734075 single base substitution T C exon_variant BRCA-EU 4 103734075 103734075 single base substitution T C intron_variant BRCA-EU 4 103734075 103734075 single base substitution T C upstream_gene_variant BRCA-EU 4 103734377 103734377 single base substitution A G intron_variant BRCA-EU 4 103734377 103734377 single base substitution A G upstream_gene_variant BRCA-EU 4 103734419 103734419 single base substitution C A intron_variant BRCA-EU 4 103734419 103734419 single base substitution C A upstream_gene_variant BRCA-EU 4 103736925 103736925 single base substitution C G intron_variant BRCA-EU 4 103736925 103736925 single base substitution C G upstream_gene_variant BRCA-EU 4 103737321 103737321 single base substitution C T intron_variant BRCA-EU 4 103737321 103737321 single base substitution C T upstream_gene_variant BRCA-EU 4 103738883 103738883 single base substitution C T intron_variant BRCA-EU 4 103738883 103738883 single base substitution C T upstream_gene_variant BRCA-EU 4 103739042 103739042 single base substitution G A intron_variant BRCA-EU 4 103739042 103739042 single base substitution G A upstream_gene_variant BRCA-EU 4 103740003 103740003 deletion of <=200bp T - intron_variant BRCA-EU 4 103740695 103740695 single base substitution G T intron_variant BRCA-EU 4 103743120 103743120 insertion of <=200bp - T intron_variant BRCA-EU 4 103743204 103743204 single base substitution C T intron_variant BRCA-EU 4 103743950 103743950 single base substitution G T intron_variant BRCA-EU 4 103743951 103743951 single base substitution G C intron_variant BRCA-EU 4 103744103 103744103 deletion of <=200bp A - intron_variant BRCA-EU 4 103745672 103745672 single base substitution G C intron_variant BRCA-EU 4 103747195 103747195 single base substitution C G intron_variant BRCA-EU 4 103747195 103747195 single base substitution C G upstream_gene_variant BRCA-EU 4 103747211 103747211 single base substitution C G intron_variant BRCA-EU 4 103747211 103747211 single base substitution C G upstream_gene_variant BRCA-EU 4 103748802 103748802 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 4 103748802 103748802 single base substitution G A intron_variant BRCA-EU 4 103748802 103748802 single base substitution G A upstream_gene_variant BRCA-EU 4 103749922 103749922 single base substitution C T intron_variant BRCA-EU 4 103749922 103749922 single base substitution C T upstream_gene_variant BRCA-EU 4 103750900 103750900 single base substitution G A intron_variant BRCA-EU 4 103750900 103750900 single base substitution G A upstream_gene_variant BRCA-EU 4 103754320 103754320 single base substitution C G intron_variant BRCA-EU 4 103757514 103757514 single base substitution G A intron_variant BRCA-EU 4 103757596 103757596 single base substitution G A intron_variant BRCA-EU 4 103757710 103757710 single base substitution A T intron_variant BRCA-EU 4 103757769 103757769 single base substitution C T intron_variant BRCA-EU 4 103758970 103758970 single base substitution G A intron_variant BRCA-EU 4 103759275 103759275 insertion of <=200bp - A intron_variant BRCA-EU 4 103760508 103760508 single base substitution C G intron_variant BRCA-EU 4 103760508 103760508 single base substitution C T intron_variant BRCA-EU 4 103760596 103760596 insertion of <=200bp - T intron_variant BRCA-EU 4 103762174 103762174 single base substitution T A intron_variant BRCA-EU 4 103764812 103764812 single base substitution G T intron_variant BRCA-EU 4 103766695 103766695 single base substitution C G intron_variant BRCA-EU 4 103767301 103767301 single base substitution T G intron_variant BRCA-EU 4 103768497 103768497 single base substitution C T intron_variant BRCA-EU 4 103769963 103769963 single base substitution G A intron_variant BRCA-EU 4 103770834 103770834 single base substitution G A intron_variant BRCA-EU 4 103772842 103772842 deletion of <=200bp G - intron_variant BRCA-EU 4 103773299 103773299 single base substitution C G intron_variant BRCA-EU 4 103773941 103773941 deletion of <=200bp A - intron_variant BRCA-EU 4 103774547 103774547 single base substitution C G intron_variant BRCA-EU 4 103775849 103775849 single base substitution T C intron_variant BRCA-EU 4 103780137 103780138 deletion of <=200bp CC - intron_variant BRCA-EU 4 103781770 103781770 single base substitution G A intron_variant BRCA-EU 4 103783892 103783892 single base substitution G T intron_variant BRCA-EU 4 103783917 103783917 single base substitution T A intron_variant BRCA-EU 4 103786995 103786995 single base substitution C G intron_variant BRCA-EU 4 103788085 103788085 single base substitution C G intron_variant BRCA-EU 4 103788283 103788284 deletion of <=200bp TA - intron_variant BRCA-EU 4 103789573 103789584 deletion of <=200bp ATCTAAGGAAGG - intron_variant BRCA-EU 4 103789662 103789662 single base substitution G C intron_variant BRCA-EU 4 103790616 103790616 single base substitution C G upstream_gene_variant BRCA-EU 4 103791513 103791513 single base substitution C A upstream_gene_variant BRCA-EU 4 103792133 103792133 single base substitution G C upstream_gene_variant BRCA-EU 4 103794013 103794013 single base substitution C T upstream_gene_variant BRCA-EU 4 103794194 103794194 single base substitution C T upstream_gene_variant BRCA-FR 4 103718318 103718318 single base substitution T A 3_prime_UTR_variant BRCA-FR 4 103718318 103718318 single base substitution T A downstream_gene_variant BRCA-FR 4 103718318 103718318 single base substitution T A exon_variant BRCA-FR 4 103721392 103721392 single base substitution A T downstream_gene_variant BRCA-FR 4 103721392 103721392 single base substitution A T intron_variant BRCA-FR 4 103723965 103723965 single base substitution A G intron_variant BRCA-FR 4 103723965 103723965 single base substitution A G upstream_gene_variant BRCA-FR 4 103725387 103725387 single base substitution C T downstream_gene_variant BRCA-FR 4 103725387 103725387 single base substitution C T intron_variant BRCA-FR 4 103725387 103725387 single base substitution C T upstream_gene_variant BRCA-FR 4 103725402 103725402 single base substitution G A downstream_gene_variant BRCA-FR 4 103725402 103725402 single base substitution G A intron_variant BRCA-FR 4 103725402 103725402 single base substitution G A upstream_gene_variant BRCA-FR 4 103740695 103740695 single base substitution G T intron_variant BRCA-FR 4 103745672 103745672 single base substitution G C intron_variant BRCA-FR 4 103746715 103746715 single base substitution G T 5_prime_UTR_variant BRCA-FR 4 103746715 103746715 single base substitution G T intron_variant BRCA-FR 4 103746715 103746715 single base substitution G T upstream_gene_variant BRCA-FR 4 103748018 103748018 single base substitution C A 5_prime_UTR_variant BRCA-FR 4 103748018 103748018 single base substitution C A exon_variant BRCA-FR 4 103748018 103748018 single base substitution C A intron_variant BRCA-FR 4 103748018 103748018 single base substitution C A upstream_gene_variant BRCA-FR 4 103748396 103748396 single base substitution G C intron_variant BRCA-FR 4 103748396 103748396 single base substitution G C upstream_gene_variant BRCA-FR 4 103762175 103762175 single base substitution A T intron_variant BRCA-FR 4 103766080 103766080 single base substitution G A intron_variant BRCA-FR 4 103775849 103775849 single base substitution T C intron_variant BRCA-UK 4 103714419 103714419 single base substitution C G downstream_gene_variant BRCA-UK 4 103714504 103714504 single base substitution G A downstream_gene_variant BRCA-UK 4 103715213 103715213 single base substitution C G downstream_gene_variant BRCA-UK 4 103715494 103715494 single base substitution C G downstream_gene_variant BRCA-UK 4 103717202 103717202 single base substitution C T 3_prime_UTR_variant BRCA-UK 4 103717202 103717202 single base substitution C T downstream_gene_variant BRCA-UK 4 103783519 103783519 single base substitution C T intron_variant BRCA-UK 4 103789662 103789662 single base substitution G C intron_variant BRCA-US 4 103720655 103720655 single base substitution G T downstream_gene_variant BRCA-US 4 103720655 103720655 single base substitution G T missense_variant L103I 307C>A BRCA-US 4 103720655 103720655 single base substitution G T missense_variant L105I 313C>A BRCA-US 4 103720655 103720655 single base substitution G T missense_variant L74I 220C>A BRCA-US 4 103720655 103720655 single base substitution G T missense_variant L97I 289C>A BRCA-US 4 103720655 103720655 single base substitution G T splice_region_variant BRCA-US 4 103730974 103730974 single base substitution A C 5_prime_UTR_variant BRCA-US 4 103730974 103730974 single base substitution A C exon_variant BRCA-US 4 103730974 103730974 single base substitution A C missense_variant C15W 45T>G BRCA-US 4 103730974 103730974 single base substitution A C missense_variant C21W 63T>G BRCA-US 4 103730974 103730974 single base substitution A C missense_variant C23W 69T>G BRCA-US 4 103747697 103747697 single base substitution C G 5_prime_UTR_variant BRCA-US 4 103747697 103747697 single base substitution C G exon_variant BRCA-US 4 103747697 103747697 single base substitution C G intron_variant BRCA-US 4 103747697 103747697 single base substitution C G upstream_gene_variant BTCA-JP 4 103732844 103732844 single base substitution A C exon_variant BTCA-JP 4 103732844 103732844 single base substitution A C intron_variant BTCA-JP 4 103732844 103732844 single base substitution A C upstream_gene_variant BTCA-JP 4 103732917 103732920 deletion of <=200bp AAAA - exon_variant BTCA-JP 4 103732917 103732920 deletion of <=200bp AAAA - intron_variant BTCA-JP 4 103732917 103732920 deletion of <=200bp AAAA - upstream_gene_variant BTCA-JP 4 103789948 103789948 single base substitution C G 5_prime_UTR_variant CESC-US 4 103747767 103747767 single base substitution C G 5_prime_UTR_variant CESC-US 4 103747767 103747767 single base substitution C G exon_variant CESC-US 4 103747767 103747767 single base substitution C G intron_variant CESC-US 4 103747767 103747767 single base substitution C G upstream_gene_variant CESC-US 4 103747823 103747823 single base substitution C G 5_prime_UTR_variant CESC-US 4 103747823 103747823 single base substitution C G exon_variant CESC-US 4 103747823 103747823 single base substitution C G intron_variant CESC-US 4 103747823 103747823 single base substitution C G upstream_gene_variant CLLE-ES 4 103710962 103710962 single base substitution T A downstream_gene_variant CLLE-ES 4 103717418 103717418 single base substitution T C 3_prime_UTR_variant CLLE-ES 4 103717418 103717418 single base substitution T C downstream_gene_variant CLLE-ES 4 103717418 103717418 single base substitution T C exon_variant CLLE-ES 4 103733891 103733891 single base substitution T C exon_variant CLLE-ES 4 103733891 103733891 single base substitution T C intron_variant CLLE-ES 4 103733891 103733891 single base substitution T C upstream_gene_variant CLLE-ES 4 103746963 103746963 single base substitution T G 5_prime_UTR_variant CLLE-ES 4 103746963 103746963 single base substitution T G intron_variant CLLE-ES 4 103746963 103746963 single base substitution T G upstream_gene_variant CLLE-ES 4 103749957 103749957 single base substitution G T intron_variant CLLE-ES 4 103749957 103749957 single base substitution G T upstream_gene_variant CLLE-ES 4 103768573 103768573 single base substitution G A intron_variant COAD-US 4 103790342 103790342 single base substitution C T upstream_gene_variant COCA-CN 4 103715820 103715820 single base substitution A C 3_prime_UTR_variant COCA-CN 4 103715820 103715820 single base substitution A C downstream_gene_variant COCA-CN 4 103715826 103715826 single base substitution C A 3_prime_UTR_variant COCA-CN 4 103715826 103715826 single base substitution C A downstream_gene_variant COCA-CN 4 103718319 103718319 single base substitution A T 3_prime_UTR_variant COCA-CN 4 103718319 103718319 single base substitution A T downstream_gene_variant COCA-CN 4 103718319 103718319 single base substitution A T exon_variant COCA-CN 4 103720817 103720817 single base substitution G C downstream_gene_variant COCA-CN 4 103720817 103720817 single base substitution G C intron_variant COCA-CN 4 103722758 103722758 single base substitution A C downstream_gene_variant COCA-CN 4 103722758 103722758 single base substitution A C exon_variant COCA-CN 4 103722758 103722758 single base substitution A C intron_variant COCA-CN 4 103747359 103747359 single base substitution A C intron_variant COCA-CN 4 103747359 103747359 single base substitution A C upstream_gene_variant COCA-CN 4 103751934 103751934 single base substitution G A intron_variant COCA-CN 4 103751934 103751934 single base substitution G A upstream_gene_variant COCA-CN 4 103778056 103778056 single base substitution G T intron_variant COCA-CN 4 103779548 103779548 single base substitution G A intron_variant COCA-CN 4 103790625 103790625 single base substitution G T upstream_gene_variant EOPC-DE 4 103744793 103744793 single base substitution A C intron_variant EOPC-DE 4 103757323 103757323 single base substitution T A intron_variant EOPC-DE 4 103790504 103790504 single base substitution G A upstream_gene_variant ESAD-UK 4 103711676 103711676 single base substitution T C downstream_gene_variant ESAD-UK 4 103716186 103716186 single base substitution T C 3_prime_UTR_variant ESAD-UK 4 103716186 103716186 single base substitution T C downstream_gene_variant ESAD-UK 4 103718318 103718318 single base substitution T A 3_prime_UTR_variant ESAD-UK 4 103718318 103718318 single base substitution T A downstream_gene_variant ESAD-UK 4 103718318 103718318 single base substitution T A exon_variant ESAD-UK 4 103718319 103718319 single base substitution A T 3_prime_UTR_variant ESAD-UK 4 103718319 103718319 single base substitution A T downstream_gene_variant ESAD-UK 4 103718319 103718319 single base substitution A T exon_variant ESAD-UK 4 103720412 103720412 single base substitution A C downstream_gene_variant ESAD-UK 4 103720412 103720412 single base substitution A C intron_variant ESAD-UK 4 103720611 103720611 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 103720611 103720611 single base substitution G A downstream_gene_variant ESAD-UK 4 103720611 103720611 single base substitution G A exon_variant ESAD-UK 4 103720611 103720611 single base substitution G A synonymous_variant D111D 333C>T ESAD-UK 4 103720611 103720611 single base substitution G A synonymous_variant D117D 351C>T ESAD-UK 4 103720611 103720611 single base substitution G A synonymous_variant D119D 357C>T ESAD-UK 4 103720611 103720611 single base substitution G A synonymous_variant D88D 264C>T ESAD-UK 4 103721109 103721109 single base substitution C T downstream_gene_variant ESAD-UK 4 103721109 103721109 single base substitution C T intron_variant ESAD-UK 4 103722079 103722079 single base substitution A C downstream_gene_variant ESAD-UK 4 103722079 103722079 single base substitution A C intron_variant ESAD-UK 4 103722871 103722871 single base substitution C T downstream_gene_variant ESAD-UK 4 103722871 103722871 single base substitution C T exon_variant ESAD-UK 4 103722871 103722871 single base substitution C T intron_variant ESAD-UK 4 103724765 103724765 deletion of <=200bp T - intron_variant ESAD-UK 4 103724765 103724765 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 103725046 103725046 single base substitution C G intron_variant ESAD-UK 4 103725046 103725046 single base substitution C G upstream_gene_variant ESAD-UK 4 103727604 103727604 single base substitution G A downstream_gene_variant ESAD-UK 4 103727604 103727604 single base substitution G A intron_variant ESAD-UK 4 103727604 103727604 single base substitution G A upstream_gene_variant ESAD-UK 4 103729571 103729571 single base substitution G A downstream_gene_variant ESAD-UK 4 103729571 103729571 single base substitution G A intron_variant ESAD-UK 4 103730062 103730062 single base substitution C G downstream_gene_variant ESAD-UK 4 103730062 103730062 single base substitution C G intron_variant ESAD-UK 4 103732503 103732503 insertion of <=200bp - A exon_variant ESAD-UK 4 103732503 103732503 insertion of <=200bp - A intron_variant ESAD-UK 4 103732503 103732503 insertion of <=200bp - A upstream_gene_variant ESAD-UK 4 103732845 103732845 single base substitution A C exon_variant ESAD-UK 4 103732845 103732845 single base substitution A C intron_variant ESAD-UK 4 103732845 103732845 single base substitution A C upstream_gene_variant ESAD-UK 4 103739738 103739738 single base substitution A C intron_variant ESAD-UK 4 103743655 103743655 single base substitution A G intron_variant ESAD-UK 4 103746783 103746783 single base substitution G T intron_variant ESAD-UK 4 103746783 103746783 single base substitution G T upstream_gene_variant ESAD-UK 4 103746946 103746946 single base substitution G C 5_prime_UTR_variant ESAD-UK 4 103746946 103746946 single base substitution G C intron_variant ESAD-UK 4 103746946 103746946 single base substitution G C upstream_gene_variant ESAD-UK 4 103747783 103747783 single base substitution G C 5_prime_UTR_variant ESAD-UK 4 103747783 103747783 single base substitution G C exon_variant ESAD-UK 4 103747783 103747783 single base substitution G C intron_variant ESAD-UK 4 103747783 103747783 single base substitution G C splice_region_variant ESAD-UK 4 103747783 103747783 single base substitution G C upstream_gene_variant ESAD-UK 4 103750651 103750651 single base substitution G A intron_variant ESAD-UK 4 103750651 103750651 single base substitution G A upstream_gene_variant ESAD-UK 4 103750816 103750816 single base substitution G C intron_variant ESAD-UK 4 103750816 103750816 single base substitution G C upstream_gene_variant ESAD-UK 4 103755618 103755618 single base substitution A T intron_variant ESAD-UK 4 103768795 103768795 insertion of <=200bp - TTTTC intron_variant ESAD-UK 4 103771891 103771891 single base substitution C T intron_variant ESAD-UK 4 103774779 103774779 single base substitution G T intron_variant ESAD-UK 4 103775378 103775378 single base substitution T G intron_variant ESAD-UK 4 103783682 103783682 single base substitution A T intron_variant ESAD-UK 4 103789059 103789059 deletion of <=200bp A - intron_variant ESAD-UK 4 103789597 103789597 single base substitution C G intron_variant ESAD-UK 4 103791479 103791479 single base substitution T C upstream_gene_variant ESAD-UK 4 103791890 103791890 insertion of <=200bp - T upstream_gene_variant ESAD-UK 4 103793630 103793633 deletion of <=200bp ATAA - upstream_gene_variant KIRC-US 4 103723780 103723780 single base substitution G A 3_prime_UTR_variant KIRC-US 4 103723780 103723780 single base substitution G A exon_variant KIRC-US 4 103723780 103723780 single base substitution G A stop_gained Q17* 49C>T KIRC-US 4 103723780 103723780 single base substitution G A stop_gained Q40* 118C>T KIRC-US 4 103723780 103723780 single base substitution G A stop_gained Q46* 136C>T KIRC-US 4 103723780 103723780 single base substitution G A stop_gained Q48* 142C>T LAML-KR 4 103722767 103722767 single base substitution T A downstream_gene_variant LAML-KR 4 103722767 103722767 single base substitution T A exon_variant LAML-KR 4 103722767 103722767 single base substitution T A intron_variant LAML-KR 4 103722772 103722772 single base substitution C A downstream_gene_variant LAML-KR 4 103722772 103722772 single base substitution C A exon_variant LAML-KR 4 103722772 103722772 single base substitution C A intron_variant LAML-KR 4 103722779 103722779 single base substitution T A downstream_gene_variant LAML-KR 4 103722779 103722779 single base substitution T A exon_variant LAML-KR 4 103722779 103722779 single base substitution T A intron_variant LAML-KR 4 103722788 103722788 single base substitution C A downstream_gene_variant LAML-KR 4 103722788 103722788 single base substitution C A exon_variant LAML-KR 4 103722788 103722788 single base substitution C A intron_variant LAML-KR 4 103730849 103730849 single base substitution G T 3_prime_UTR_variant LAML-KR 4 103730849 103730849 single base substitution G T exon_variant LAML-KR 4 103730849 103730849 single base substitution G T missense_variant Q28K 82C>A LAML-KR 4 103730849 103730849 single base substitution G T missense_variant Q34K 100C>A LAML-KR 4 103730849 103730849 single base substitution G T missense_variant Q36K 106C>A LAML-KR 4 103730849 103730849 single base substitution G T missense_variant Q5K 13C>A LICA-FR 4 103720618 103720618 single base substitution G T 3_prime_UTR_variant LICA-FR 4 103720618 103720618 single base substitution G T downstream_gene_variant LICA-FR 4 103720618 103720618 single base substitution G T exon_variant LICA-FR 4 103720618 103720618 single base substitution G T missense_variant P109Q 326C>A LICA-FR 4 103720618 103720618 single base substitution G T missense_variant P115Q 344C>A LICA-FR 4 103720618 103720618 single base substitution G T missense_variant P117Q 350C>A LICA-FR 4 103720618 103720618 single base substitution G T missense_variant P86Q 257C>A LICA-FR 4 103722114 103722114 single base substitution T C downstream_gene_variant LICA-FR 4 103722114 103722114 single base substitution T C intron_variant LICA-FR 4 103734163 103734163 single base substitution G C intron_variant LICA-FR 4 103734163 103734163 single base substitution G C upstream_gene_variant LICA-FR 4 103737472 103737472 single base substitution A G intron_variant LICA-FR 4 103737472 103737472 single base substitution A G upstream_gene_variant LICA-FR 4 103747839 103747842 deletion of <=200bp AGCC - 5_prime_UTR_variant LICA-FR 4 103747839 103747842 deletion of <=200bp AGCC - exon_variant LICA-FR 4 103747839 103747842 deletion of <=200bp AGCC - intron_variant LICA-FR 4 103747839 103747842 deletion of <=200bp AGCC - upstream_gene_variant LICA-FR 4 103767584 103767584 single base substitution T C intron_variant LIHC-US 4 103722609 103722609 single base substitution A C downstream_gene_variant LIHC-US 4 103722609 103722609 single base substitution A C splice_donor_variant LIHC-US 4 103747665 103747665 single base substitution T C exon_variant LIHC-US 4 103747665 103747665 single base substitution T C intron_variant LIHC-US 4 103747665 103747665 single base substitution T C start_lost M1V 1A>G LIHC-US 4 103747665 103747665 single base substitution T C upstream_gene_variant LINC-JP 4 103715826 103715826 single base substitution C A 3_prime_UTR_variant LINC-JP 4 103715826 103715826 single base substitution C A downstream_gene_variant LINC-JP 4 103721723 103721723 single base substitution A C downstream_gene_variant LINC-JP 4 103721723 103721723 single base substitution A C intron_variant LINC-JP 4 103722762 103722762 single base substitution T C downstream_gene_variant LINC-JP 4 103722762 103722762 single base substitution T C exon_variant LINC-JP 4 103722762 103722762 single base substitution T C intron_variant LINC-JP 4 103742806 103742806 single base substitution A G intron_variant LINC-JP 4 103746240 103746240 single base substitution T C intron_variant LINC-JP 4 103754447 103754447 single base substitution G T intron_variant LINC-JP 4 103754993 103754993 single base substitution T A intron_variant LINC-JP 4 103763400 103763400 deletion of <=200bp A - intron_variant LINC-JP 4 103768823 103768823 single base substitution T C intron_variant LINC-JP 4 103780284 103780284 single base substitution T G intron_variant LINC-JP 4 103786024 103786024 single base substitution A C intron_variant LIRI-JP 4 103711144 103711144 single base substitution T G downstream_gene_variant LIRI-JP 4 103712695 103712695 single base substitution C T downstream_gene_variant LIRI-JP 4 103713079 103713079 single base substitution T G downstream_gene_variant LIRI-JP 4 103713084 103713084 single base substitution C A downstream_gene_variant LIRI-JP 4 103713377 103713377 single base substitution T G downstream_gene_variant LIRI-JP 4 103713639 103713639 single base substitution T A downstream_gene_variant LIRI-JP 4 103713894 103713894 single base substitution G C downstream_gene_variant LIRI-JP 4 103716608 103716608 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 103716608 103716608 single base substitution T C downstream_gene_variant LIRI-JP 4 103717233 103717233 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 103717233 103717233 single base substitution C T downstream_gene_variant LIRI-JP 4 103722022 103722022 insertion of <=200bp - A downstream_gene_variant LIRI-JP 4 103722022 103722022 insertion of <=200bp - A intron_variant LIRI-JP 4 103722496 103722496 single base substitution T C downstream_gene_variant LIRI-JP 4 103722496 103722496 single base substitution T C intron_variant LIRI-JP 4 103723112 103723112 single base substitution C T downstream_gene_variant LIRI-JP 4 103723112 103723112 single base substitution C T exon_variant LIRI-JP 4 103723112 103723112 single base substitution C T intron_variant LIRI-JP 4 103723721 103723721 single base substitution A T 3_prime_UTR_variant LIRI-JP 4 103723721 103723721 single base substitution A T downstream_gene_variant LIRI-JP 4 103723721 103723721 single base substitution A T exon_variant LIRI-JP 4 103723721 103723721 single base substitution A T synonymous_variant P36P 108T>A LIRI-JP 4 103723721 103723721 single base substitution A T synonymous_variant P59P 177T>A LIRI-JP 4 103723721 103723721 single base substitution A T synonymous_variant P65P 195T>A LIRI-JP 4 103723721 103723721 single base substitution A T synonymous_variant P67P 201T>A LIRI-JP 4 103723944 103723944 single base substitution T C intron_variant LIRI-JP 4 103723944 103723944 single base substitution T C upstream_gene_variant LIRI-JP 4 103726596 103726596 single base substitution C G downstream_gene_variant LIRI-JP 4 103726596 103726596 single base substitution C G intron_variant LIRI-JP 4 103726596 103726596 single base substitution C G upstream_gene_variant LIRI-JP 4 103727734 103727734 single base substitution T C downstream_gene_variant LIRI-JP 4 103727734 103727734 single base substitution T C intron_variant LIRI-JP 4 103727734 103727734 single base substitution T C upstream_gene_variant LIRI-JP 4 103728464 103728464 deletion of <=200bp A - downstream_gene_variant LIRI-JP 4 103728464 103728464 deletion of <=200bp A - intron_variant LIRI-JP 4 103728464 103728464 deletion of <=200bp A - upstream_gene_variant LIRI-JP 4 103729286 103729286 single base substitution C G downstream_gene_variant LIRI-JP 4 103729286 103729286 single base substitution C G intron_variant LIRI-JP 4 103729353 103729353 single base substitution G A downstream_gene_variant LIRI-JP 4 103729353 103729353 single base substitution G A intron_variant LIRI-JP 4 103729361 103729361 single base substitution C T downstream_gene_variant LIRI-JP 4 103729361 103729361 single base substitution C T intron_variant LIRI-JP 4 103729627 103729627 single base substitution G A downstream_gene_variant LIRI-JP 4 103729627 103729627 single base substitution G A intron_variant LIRI-JP 4 103730714 103730714 single base substitution T C exon_variant LIRI-JP 4 103730714 103730714 single base substitution T C intron_variant LIRI-JP 4 103730994 103730994 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 4 103730994 103730994 single base substitution G A exon_variant LIRI-JP 4 103730994 103730994 single base substitution G A missense_variant R15C 43C>T LIRI-JP 4 103730994 103730994 single base substitution G A missense_variant R17C 49C>T LIRI-JP 4 103730994 103730994 single base substitution G A missense_variant R9C 25C>T LIRI-JP 4 103731464 103731464 single base substitution A G exon_variant LIRI-JP 4 103731464 103731464 single base substitution A G intron_variant LIRI-JP 4 103731464 103731464 single base substitution A G upstream_gene_variant LIRI-JP 4 103732002 103732002 single base substitution T C exon_variant LIRI-JP 4 103732002 103732002 single base substitution T C intron_variant LIRI-JP 4 103732002 103732002 single base substitution T C upstream_gene_variant LIRI-JP 4 103734219 103734219 single base substitution C A intron_variant LIRI-JP 4 103734219 103734219 single base substitution C A upstream_gene_variant LIRI-JP 4 103734522 103734522 single base substitution T C intron_variant LIRI-JP 4 103734522 103734522 single base substitution T C upstream_gene_variant LIRI-JP 4 103734573 103734573 single base substitution T C intron_variant LIRI-JP 4 103734573 103734573 single base substitution T C upstream_gene_variant LIRI-JP 4 103737588 103737588 single base substitution T C intron_variant LIRI-JP 4 103737588 103737588 single base substitution T C upstream_gene_variant LIRI-JP 4 103739233 103739233 single base substitution C G intron_variant LIRI-JP 4 103739943 103739943 single base substitution A G intron_variant LIRI-JP 4 103740214 103740214 single base substitution G A intron_variant LIRI-JP 4 103740324 103740324 single base substitution C T intron_variant LIRI-JP 4 103740634 103740634 single base substitution T C intron_variant LIRI-JP 4 103743268 103743268 single base substitution A G intron_variant LIRI-JP 4 103746224 103746224 single base substitution T C intron_variant LIRI-JP 4 103750161 103750161 single base substitution T G intron_variant LIRI-JP 4 103750161 103750161 single base substitution T G upstream_gene_variant LIRI-JP 4 103752710 103752710 single base substitution T C intron_variant LIRI-JP 4 103752710 103752710 single base substitution T C upstream_gene_variant LIRI-JP 4 103752845 103752845 single base substitution G A intron_variant LIRI-JP 4 103752845 103752845 single base substitution G A upstream_gene_variant LIRI-JP 4 103753271 103753271 single base substitution G A intron_variant LIRI-JP 4 103753271 103753271 single base substitution G A upstream_gene_variant LIRI-JP 4 103757004 103757004 single base substitution T G intron_variant LIRI-JP 4 103757198 103757198 single base substitution T C intron_variant LIRI-JP 4 103759663 103759663 single base substitution A C intron_variant LIRI-JP 4 103760962 103760962 single base substitution T C intron_variant LIRI-JP 4 103763290 103763290 single base substitution A G intron_variant LIRI-JP 4 103765513 103765513 single base substitution G A intron_variant LIRI-JP 4 103765514 103765514 single base substitution C T intron_variant LIRI-JP 4 103767343 103767343 single base substitution T C intron_variant LIRI-JP 4 103768213 103768213 single base substitution G A intron_variant LIRI-JP 4 103773182 103773182 single base substitution T A intron_variant LIRI-JP 4 103774852 103774853 deletion of <=200bp TA - intron_variant LIRI-JP 4 103775201 103775201 single base substitution T G intron_variant LIRI-JP 4 103775213 103775213 single base substitution T C intron_variant LIRI-JP 4 103775566 103775566 single base substitution A G intron_variant LIRI-JP 4 103776846 103776846 single base substitution C T intron_variant LIRI-JP 4 103780092 103780092 single base substitution T C intron_variant LIRI-JP 4 103780617 103780617 single base substitution A G intron_variant LIRI-JP 4 103783244 103783244 single base substitution T A intron_variant LIRI-JP 4 103784021 103784021 single base substitution T C intron_variant LIRI-JP 4 103790400 103790400 single base substitution G T upstream_gene_variant LIRI-JP 4 103792104 103792104 single base substitution T C upstream_gene_variant LIRI-JP 4 103792786 103792786 single base substitution C G upstream_gene_variant LUSC-KR 4 103720798 103720798 single base substitution G A downstream_gene_variant LUSC-KR 4 103720798 103720798 single base substitution G A intron_variant LUSC-KR 4 103721002 103721002 single base substitution A C downstream_gene_variant LUSC-KR 4 103721002 103721002 single base substitution A C intron_variant LUSC-KR 4 103722767 103722767 single base substitution T A downstream_gene_variant LUSC-KR 4 103722767 103722767 single base substitution T A exon_variant LUSC-KR 4 103722767 103722767 single base substitution T A intron_variant LUSC-KR 4 103722772 103722772 single base substitution C A downstream_gene_variant LUSC-KR 4 103722772 103722772 single base substitution C A exon_variant LUSC-KR 4 103722772 103722772 single base substitution C A intron_variant LUSC-KR 4 103722779 103722779 single base substitution T A downstream_gene_variant LUSC-KR 4 103722779 103722779 single base substitution T A exon_variant LUSC-KR 4 103722779 103722779 single base substitution T A intron_variant LUSC-KR 4 103722787 103722787 single base substitution T A downstream_gene_variant LUSC-KR 4 103722787 103722787 single base substitution T A exon_variant LUSC-KR 4 103722787 103722787 single base substitution T A intron_variant LUSC-KR 4 103722788 103722788 single base substitution C A downstream_gene_variant LUSC-KR 4 103722788 103722788 single base substitution C A exon_variant LUSC-KR 4 103722788 103722788 single base substitution C A intron_variant LUSC-KR 4 103727633 103727633 single base substitution C T downstream_gene_variant LUSC-KR 4 103727633 103727633 single base substitution C T intron_variant LUSC-KR 4 103727633 103727633 single base substitution C T upstream_gene_variant LUSC-KR 4 103730110 103730110 single base substitution A T downstream_gene_variant LUSC-KR 4 103730110 103730110 single base substitution A T intron_variant LUSC-KR 4 103734678 103734678 single base substitution T C intron_variant LUSC-KR 4 103734678 103734678 single base substitution T C upstream_gene_variant LUSC-KR 4 103747468 103747468 single base substitution C G intron_variant LUSC-KR 4 103747468 103747468 single base substitution C G upstream_gene_variant LUSC-KR 4 103747541 103747541 single base substitution G A intron_variant LUSC-KR 4 103747541 103747541 single base substitution G A upstream_gene_variant LUSC-KR 4 103755923 103755923 single base substitution C T intron_variant LUSC-KR 4 103756559 103756559 single base substitution A G intron_variant LUSC-KR 4 103758922 103758922 single base substitution C T intron_variant LUSC-KR 4 103763726 103763726 single base substitution G C intron_variant LUSC-KR 4 103768993 103768993 single base substitution G T intron_variant LUSC-KR 4 103774294 103774294 single base substitution T C intron_variant LUSC-KR 4 103782338 103782338 single base substitution G A intron_variant LUSC-KR 4 103785346 103785346 single base substitution C G intron_variant LUSC-KR 4 103789782 103789782 single base substitution G A intron_variant LUSC-US 4 103790340 103790340 single base substitution C G upstream_gene_variant MALY-DE 4 103710575 103710575 single base substitution C A downstream_gene_variant MALY-DE 4 103715168 103715168 single base substitution C T downstream_gene_variant MALY-DE 4 103716698 103716698 single base substitution T C 3_prime_UTR_variant MALY-DE 4 103716698 103716698 single base substitution T C downstream_gene_variant MALY-DE 4 103717349 103717349 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 4 103717349 103717349 insertion of <=200bp - T downstream_gene_variant MALY-DE 4 103717349 103717349 insertion of <=200bp - T exon_variant MALY-DE 4 103720979 103720979 single base substitution A T downstream_gene_variant MALY-DE 4 103720979 103720979 single base substitution A T intron_variant MALY-DE 4 103728043 103728043 single base substitution T C downstream_gene_variant MALY-DE 4 103728043 103728043 single base substitution T C intron_variant MALY-DE 4 103728043 103728043 single base substitution T C upstream_gene_variant MALY-DE 4 103730626 103730626 single base substitution C A exon_variant MALY-DE 4 103730626 103730626 single base substitution C A intron_variant MALY-DE 4 103738545 103738545 single base substitution C T intron_variant MALY-DE 4 103738545 103738545 single base substitution C T upstream_gene_variant MALY-DE 4 103739001 103739001 single base substitution C T intron_variant MALY-DE 4 103739001 103739001 single base substitution C T upstream_gene_variant MALY-DE 4 103747204 103747204 single base substitution G T intron_variant MALY-DE 4 103747204 103747204 single base substitution G T upstream_gene_variant MALY-DE 4 103747255 103747255 single base substitution A G intron_variant MALY-DE 4 103747255 103747255 single base substitution A G upstream_gene_variant MALY-DE 4 103751310 103751310 single base substitution G T intron_variant MALY-DE 4 103751310 103751310 single base substitution G T upstream_gene_variant MALY-DE 4 103757457 103757457 single base substitution C T intron_variant MALY-DE 4 103762087 103762087 single base substitution T G intron_variant MALY-DE 4 103762222 103762222 single base substitution A G intron_variant MALY-DE 4 103762238 103762238 single base substitution A C intron_variant MALY-DE 4 103773674 103773674 single base substitution G A intron_variant MALY-DE 4 103790516 103790516 single base substitution G A upstream_gene_variant MELA-AU 4 103710543 103710543 single base substitution G A downstream_gene_variant MELA-AU 4 103710547 103710547 single base substitution A T downstream_gene_variant MELA-AU 4 103710549 103710549 single base substitution A T downstream_gene_variant MELA-AU 4 103711527 103711527 single base substitution G A downstream_gene_variant MELA-AU 4 103711607 103711607 single base substitution T C downstream_gene_variant MELA-AU 4 103711661 103711661 single base substitution G A downstream_gene_variant MELA-AU 4 103711929 103711929 single base substitution C A downstream_gene_variant MELA-AU 4 103712499 103712499 single base substitution A G downstream_gene_variant MELA-AU 4 103712913 103712913 single base substitution G A downstream_gene_variant MELA-AU 4 103713775 103713775 single base substitution G A downstream_gene_variant MELA-AU 4 103713781 103713781 single base substitution G A downstream_gene_variant MELA-AU 4 103714657 103714657 single base substitution C T downstream_gene_variant MELA-AU 4 103715218 103715218 single base substitution G A downstream_gene_variant MELA-AU 4 103715452 103715452 single base substitution A G downstream_gene_variant MELA-AU 4 103715474 103715474 single base substitution G A downstream_gene_variant MELA-AU 4 103715834 103715834 single base substitution A G 3_prime_UTR_variant MELA-AU 4 103715834 103715834 single base substitution A G downstream_gene_variant MELA-AU 4 103718319 103718319 single base substitution A T 3_prime_UTR_variant MELA-AU 4 103718319 103718319 single base substitution A T downstream_gene_variant MELA-AU 4 103718319 103718319 single base substitution A T exon_variant MELA-AU 4 103720153 103720153 single base substitution T C downstream_gene_variant MELA-AU 4 103720153 103720153 single base substitution T C intron_variant MELA-AU 4 103722379 103722379 single base substitution G A downstream_gene_variant MELA-AU 4 103722379 103722379 single base substitution G A intron_variant MELA-AU 4 103722751 103722751 single base substitution A G downstream_gene_variant MELA-AU 4 103722751 103722751 single base substitution A G exon_variant MELA-AU 4 103722751 103722751 single base substitution A G intron_variant MELA-AU 4 103723516 103723516 single base substitution G A downstream_gene_variant MELA-AU 4 103723516 103723516 single base substitution G A exon_variant MELA-AU 4 103723516 103723516 single base substitution G A intron_variant MELA-AU 4 103723747 103723747 single base substitution G A 3_prime_UTR_variant MELA-AU 4 103723747 103723747 single base substitution G A downstream_gene_variant MELA-AU 4 103723747 103723747 single base substitution G A exon_variant MELA-AU 4 103723747 103723747 single base substitution G A missense_variant P28S 82C>T MELA-AU 4 103723747 103723747 single base substitution G A missense_variant P51S 151C>T MELA-AU 4 103723747 103723747 single base substitution G A missense_variant P57S 169C>T MELA-AU 4 103723747 103723747 single base substitution G A missense_variant P59S 175C>T MELA-AU 4 103723930 103723930 single base substitution G A intron_variant MELA-AU 4 103723930 103723930 single base substitution G A upstream_gene_variant MELA-AU 4 103724354 103724354 single base substitution G A intron_variant MELA-AU 4 103724354 103724354 single base substitution G A upstream_gene_variant MELA-AU 4 103725301 103725301 single base substitution G A downstream_gene_variant MELA-AU 4 103725301 103725301 single base substitution G A intron_variant MELA-AU 4 103725301 103725301 single base substitution G A upstream_gene_variant MELA-AU 4 103725312 103725312 single base substitution G A downstream_gene_variant MELA-AU 4 103725312 103725312 single base substitution G A intron_variant MELA-AU 4 103725312 103725312 single base substitution G A upstream_gene_variant MELA-AU 4 103725383 103725383 single base substitution A G downstream_gene_variant MELA-AU 4 103725383 103725383 single base substitution A G intron_variant MELA-AU 4 103725383 103725383 single base substitution A G upstream_gene_variant MELA-AU 4 103725689 103725689 single base substitution G A downstream_gene_variant MELA-AU 4 103725689 103725689 single base substitution G A intron_variant MELA-AU 4 103725689 103725689 single base substitution G A upstream_gene_variant MELA-AU 4 103725753 103725753 single base substitution T C downstream_gene_variant MELA-AU 4 103725753 103725753 single base substitution T C intron_variant MELA-AU 4 103725753 103725753 single base substitution T C upstream_gene_variant MELA-AU 4 103726932 103726932 single base substitution G T downstream_gene_variant MELA-AU 4 103726932 103726932 single base substitution G T intron_variant MELA-AU 4 103726932 103726932 single base substitution G T upstream_gene_variant MELA-AU 4 103726945 103726945 single base substitution G A downstream_gene_variant MELA-AU 4 103726945 103726945 single base substitution G A intron_variant MELA-AU 4 103726945 103726945 single base substitution G A upstream_gene_variant MELA-AU 4 103727653 103727653 single base substitution T A downstream_gene_variant MELA-AU 4 103727653 103727653 single base substitution T A intron_variant MELA-AU 4 103727653 103727653 single base substitution T A upstream_gene_variant MELA-AU 4 103727908 103727908 single base substitution T C downstream_gene_variant MELA-AU 4 103727908 103727908 single base substitution T C intron_variant MELA-AU 4 103727908 103727908 single base substitution T C upstream_gene_variant MELA-AU 4 103728455 103728455 single base substitution T C downstream_gene_variant MELA-AU 4 103728455 103728455 single base substitution T C intron_variant MELA-AU 4 103728455 103728455 single base substitution T C upstream_gene_variant MELA-AU 4 103728661 103728661 single base substitution A G downstream_gene_variant MELA-AU 4 103728661 103728661 single base substitution A G intron_variant MELA-AU 4 103728661 103728661 single base substitution A G upstream_gene_variant MELA-AU 4 103728886 103728886 single base substitution A G downstream_gene_variant MELA-AU 4 103728886 103728886 single base substitution A G intron_variant MELA-AU 4 103729005 103729005 single base substitution G A downstream_gene_variant MELA-AU 4 103729005 103729005 single base substitution G A intron_variant MELA-AU 4 103729176 103729176 single base substitution C A downstream_gene_variant MELA-AU 4 103729176 103729176 single base substitution C A intron_variant MELA-AU 4 103729877 103729877 single base substitution G A downstream_gene_variant MELA-AU 4 103729877 103729877 single base substitution G A intron_variant MELA-AU 4 103729995 103729995 single base substitution G A downstream_gene_variant MELA-AU 4 103729995 103729995 single base substitution G A intron_variant MELA-AU 4 103731012 103731012 single base substitution C T exon_variant MELA-AU 4 103731012 103731012 single base substitution C T missense_variant E11K 31G>A MELA-AU 4 103731012 103731012 single base substitution C T missense_variant E3K 7G>A MELA-AU 4 103731012 103731012 single base substitution C T missense_variant E9K 25G>A MELA-AU 4 103731012 103731012 single base substitution C T splice_region_variant MELA-AU 4 103732329 103732329 single base substitution G A exon_variant MELA-AU 4 103732329 103732329 single base substitution G A intron_variant MELA-AU 4 103732329 103732329 single base substitution G A upstream_gene_variant MELA-AU 4 103732759 103732759 single base substitution A G exon_variant MELA-AU 4 103732759 103732759 single base substitution A G intron_variant MELA-AU 4 103732759 103732759 single base substitution A G upstream_gene_variant MELA-AU 4 103732768 103732768 single base substitution G A exon_variant MELA-AU 4 103732768 103732768 single base substitution G A intron_variant MELA-AU 4 103732768 103732768 single base substitution G A upstream_gene_variant MELA-AU 4 103733822 103733822 single base substitution G A exon_variant MELA-AU 4 103733822 103733822 single base substitution G A intron_variant MELA-AU 4 103733822 103733822 single base substitution G A upstream_gene_variant MELA-AU 4 103734628 103734628 single base substitution T A intron_variant MELA-AU 4 103734628 103734628 single base substitution T A upstream_gene_variant MELA-AU 4 103738830 103738830 single base substitution G A intron_variant MELA-AU 4 103738830 103738830 single base substitution G A upstream_gene_variant MELA-AU 4 103739073 103739073 single base substitution T C intron_variant MELA-AU 4 103739073 103739073 single base substitution T C upstream_gene_variant MELA-AU 4 103739595 103739595 single base substitution G A intron_variant MELA-AU 4 103739794 103739794 single base substitution G A intron_variant MELA-AU 4 103740510 103740511 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 103741594 103741594 single base substitution G A intron_variant MELA-AU 4 103742725 103742725 single base substitution G A intron_variant MELA-AU 4 103744544 103744544 single base substitution G A intron_variant MELA-AU 4 103745398 103745398 single base substitution G A intron_variant MELA-AU 4 103745511 103745511 single base substitution C T intron_variant MELA-AU 4 103746235 103746235 single base substitution C T intron_variant MELA-AU 4 103746832 103746832 single base substitution T C intron_variant MELA-AU 4 103746832 103746832 single base substitution T C upstream_gene_variant MELA-AU 4 103747585 103747585 single base substitution C T intron_variant MELA-AU 4 103747585 103747585 single base substitution C T upstream_gene_variant MELA-AU 4 103748010 103748010 single base substitution G A 5_prime_UTR_variant MELA-AU 4 103748010 103748010 single base substitution G A exon_variant MELA-AU 4 103748010 103748010 single base substitution G A intron_variant MELA-AU 4 103748010 103748010 single base substitution G A upstream_gene_variant MELA-AU 4 103748568 103748568 single base substitution C T intron_variant MELA-AU 4 103748568 103748568 single base substitution C T upstream_gene_variant MELA-AU 4 103749016 103749016 single base substitution G A 5_prime_UTR_variant MELA-AU 4 103749016 103749016 single base substitution G A intron_variant MELA-AU 4 103749016 103749016 single base substitution G A upstream_gene_variant MELA-AU 4 103750281 103750281 single base substitution T A intron_variant MELA-AU 4 103750281 103750281 single base substitution T A upstream_gene_variant MELA-AU 4 103750644 103750644 single base substitution C T intron_variant MELA-AU 4 103750644 103750644 single base substitution C T upstream_gene_variant MELA-AU 4 103751002 103751002 single base substitution C T intron_variant MELA-AU 4 103751002 103751002 single base substitution C T upstream_gene_variant MELA-AU 4 103751746 103751746 single base substitution G C intron_variant MELA-AU 4 103751746 103751746 single base substitution G C upstream_gene_variant MELA-AU 4 103751824 103751824 single base substitution C T intron_variant MELA-AU 4 103751824 103751824 single base substitution C T upstream_gene_variant MELA-AU 4 103752496 103752496 single base substitution C T intron_variant MELA-AU 4 103752496 103752496 single base substitution C T upstream_gene_variant MELA-AU 4 103754443 103754443 single base substitution C T intron_variant MELA-AU 4 103757446 103757446 single base substitution G A intron_variant MELA-AU 4 103758111 103758111 single base substitution A G intron_variant MELA-AU 4 103758859 103758859 single base substitution A G intron_variant MELA-AU 4 103759104 103759104 single base substitution C T intron_variant MELA-AU 4 103760329 103760329 single base substitution C T intron_variant MELA-AU 4 103760448 103760448 single base substitution G A intron_variant MELA-AU 4 103760626 103760626 single base substitution C T intron_variant MELA-AU 4 103761106 103761106 single base substitution C T intron_variant MELA-AU 4 103761608 103761608 single base substitution G A intron_variant MELA-AU 4 103762418 103762418 single base substitution G A intron_variant MELA-AU 4 103762670 103762670 single base substitution C T intron_variant MELA-AU 4 103764026 103764026 single base substitution G A intron_variant MELA-AU 4 103765911 103765911 single base substitution G A intron_variant MELA-AU 4 103766426 103766426 single base substitution G A intron_variant MELA-AU 4 103766591 103766592 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 103767632 103767632 insertion of <=200bp - C intron_variant MELA-AU 4 103767635 103767635 single base substitution T A intron_variant MELA-AU 4 103767974 103767974 single base substitution T G intron_variant MELA-AU 4 103768849 103768849 single base substitution G A intron_variant MELA-AU 4 103772431 103772431 single base substitution G A intron_variant MELA-AU 4 103772812 103772812 single base substitution G T intron_variant MELA-AU 4 103775626 103775626 single base substitution C T intron_variant MELA-AU 4 103775665 103775665 single base substitution G A intron_variant MELA-AU 4 103776028 103776028 single base substitution T G intron_variant MELA-AU 4 103776550 103776550 single base substitution G A intron_variant MELA-AU 4 103777387 103777387 single base substitution G A intron_variant MELA-AU 4 103777500 103777500 single base substitution G A intron_variant MELA-AU 4 103777795 103777796 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 103777991 103777991 single base substitution G A intron_variant MELA-AU 4 103778635 103778635 single base substitution T A intron_variant MELA-AU 4 103778675 103778675 single base substitution G A intron_variant MELA-AU 4 103778749 103778749 single base substitution A G intron_variant MELA-AU 4 103780025 103780025 single base substitution C T intron_variant MELA-AU 4 103780577 103780577 single base substitution T C intron_variant MELA-AU 4 103781076 103781076 single base substitution C T intron_variant MELA-AU 4 103781217 103781217 single base substitution G A intron_variant MELA-AU 4 103781704 103781704 single base substitution A G intron_variant MELA-AU 4 103781918 103781918 single base substitution G A intron_variant MELA-AU 4 103782496 103782496 single base substitution G A intron_variant MELA-AU 4 103783899 103783899 single base substitution A C intron_variant MELA-AU 4 103785209 103785210 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 4 103785440 103785440 single base substitution C T intron_variant MELA-AU 4 103786575 103786575 single base substitution G A intron_variant MELA-AU 4 103786817 103786817 single base substitution T A intron_variant MELA-AU 4 103791493 103791493 single base substitution C T upstream_gene_variant MELA-AU 4 103791691 103791691 single base substitution A G upstream_gene_variant MELA-AU 4 103792329 103792329 single base substitution A G upstream_gene_variant MELA-AU 4 103792521 103792521 single base substitution A G upstream_gene_variant MELA-AU 4 103793061 103793061 single base substitution T C upstream_gene_variant MELA-AU 4 103794022 103794022 single base substitution C T upstream_gene_variant MELA-AU 4 103794049 103794049 single base substitution C T upstream_gene_variant MELA-AU 4 103794538 103794539 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 4 103795031 103795031 single base substitution C T upstream_gene_variant ORCA-IN 4 103723096 103723096 single base substitution G C downstream_gene_variant ORCA-IN 4 103723096 103723096 single base substitution G C exon_variant ORCA-IN 4 103723096 103723096 single base substitution G C intron_variant ORCA-IN 4 103733744 103733744 single base substitution G T exon_variant ORCA-IN 4 103733744 103733744 single base substitution G T intron_variant ORCA-IN 4 103733744 103733744 single base substitution G T upstream_gene_variant OV-AU 4 103714421 103714421 single base substitution T C downstream_gene_variant OV-AU 4 103741904 103741904 single base substitution C A intron_variant OV-AU 4 103743148 103743148 single base substitution T A intron_variant OV-AU 4 103745052 103745052 single base substitution C A intron_variant OV-AU 4 103745921 103745921 single base substitution T C intron_variant OV-AU 4 103763260 103763260 single base substitution T C intron_variant OV-AU 4 103767201 103767201 single base substitution G C intron_variant OV-AU 4 103785404 103785404 single base substitution C T intron_variant PACA-AU 4 103711426 103711429 deletion of <=200bp ATGT - downstream_gene_variant PACA-AU 4 103711557 103711559 deletion of <=200bp TTA - downstream_gene_variant PACA-AU 4 103715611 103715611 single base substitution T A 3_prime_UTR_variant PACA-AU 4 103715611 103715611 single base substitution T A downstream_gene_variant PACA-AU 4 103715834 103715834 single base substitution A C 3_prime_UTR_variant PACA-AU 4 103715834 103715834 single base substitution A C downstream_gene_variant PACA-AU 4 103717791 103717791 single base substitution C G 3_prime_UTR_variant PACA-AU 4 103717791 103717791 single base substitution C G downstream_gene_variant PACA-AU 4 103717791 103717791 single base substitution C G exon_variant PACA-AU 4 103718318 103718318 single base substitution T A 3_prime_UTR_variant PACA-AU 4 103718318 103718318 single base substitution T A downstream_gene_variant PACA-AU 4 103718318 103718318 single base substitution T A exon_variant PACA-AU 4 103722924 103722924 single base substitution T C downstream_gene_variant PACA-AU 4 103722924 103722924 single base substitution T C exon_variant PACA-AU 4 103722924 103722924 single base substitution T C intron_variant PACA-AU 4 103724624 103724624 single base substitution G C intron_variant PACA-AU 4 103724624 103724624 single base substitution G C upstream_gene_variant PACA-AU 4 103726470 103726470 single base substitution C A downstream_gene_variant PACA-AU 4 103726470 103726470 single base substitution C A intron_variant PACA-AU 4 103726470 103726470 single base substitution C A upstream_gene_variant PACA-AU 4 103728655 103728655 single base substitution A G downstream_gene_variant PACA-AU 4 103728655 103728655 single base substitution A G intron_variant PACA-AU 4 103728655 103728655 single base substitution A G upstream_gene_variant PACA-AU 4 103732615 103732615 single base substitution G A exon_variant PACA-AU 4 103732615 103732615 single base substitution G A intron_variant PACA-AU 4 103732615 103732615 single base substitution G A upstream_gene_variant PACA-AU 4 103737335 103737335 single base substitution C T intron_variant PACA-AU 4 103737335 103737335 single base substitution C T upstream_gene_variant PACA-AU 4 103737992 103737992 single base substitution G A intron_variant PACA-AU 4 103737992 103737992 single base substitution G A upstream_gene_variant PACA-AU 4 103744331 103744331 single base substitution C G intron_variant PACA-AU 4 103747606 103747606 single base substitution C T intron_variant PACA-AU 4 103747606 103747606 single base substitution C T upstream_gene_variant PACA-AU 4 103750650 103750650 single base substitution C T intron_variant PACA-AU 4 103750650 103750650 single base substitution C T upstream_gene_variant PACA-AU 4 103762175 103762175 single base substitution A T intron_variant PACA-AU 4 103768649 103768652 deletion of <=200bp AGTC - intron_variant PACA-AU 4 103768979 103768979 single base substitution T A intron_variant PACA-AU 4 103771479 103771479 single base substitution T C intron_variant PACA-AU 4 103777307 103777307 single base substitution A C intron_variant PACA-AU 4 103777637 103777637 single base substitution A C intron_variant PACA-AU 4 103779018 103779018 deletion of <=200bp T - intron_variant PACA-AU 4 103791216 103791216 single base substitution C T upstream_gene_variant PACA-CA 4 103710599 103710599 single base substitution T C downstream_gene_variant PACA-CA 4 103711691 103711691 single base substitution C A downstream_gene_variant PACA-CA 4 103717627 103717627 single base substitution G A 3_prime_UTR_variant PACA-CA 4 103717627 103717627 single base substitution G A downstream_gene_variant PACA-CA 4 103717627 103717627 single base substitution G A exon_variant PACA-CA 4 103717901 103717901 single base substitution A G 3_prime_UTR_variant PACA-CA 4 103717901 103717901 single base substitution A G downstream_gene_variant PACA-CA 4 103717901 103717901 single base substitution A G exon_variant PACA-CA 4 103717924 103717924 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 4 103717924 103717924 insertion of <=200bp - T downstream_gene_variant PACA-CA 4 103717924 103717924 insertion of <=200bp - T exon_variant PACA-CA 4 103718319 103718319 single base substitution A T 3_prime_UTR_variant PACA-CA 4 103718319 103718319 single base substitution A T downstream_gene_variant PACA-CA 4 103718319 103718319 single base substitution A T exon_variant PACA-CA 4 103719356 103719356 single base substitution T C downstream_gene_variant PACA-CA 4 103719356 103719356 single base substitution T C intron_variant PACA-CA 4 103720036 103720036 single base substitution G T downstream_gene_variant PACA-CA 4 103720036 103720036 single base substitution G T intron_variant PACA-CA 4 103721627 103721627 single base substitution C T downstream_gene_variant PACA-CA 4 103721627 103721627 single base substitution C T intron_variant PACA-CA 4 103722788 103722788 single base substitution C A downstream_gene_variant PACA-CA 4 103722788 103722788 single base substitution C A exon_variant PACA-CA 4 103722788 103722788 single base substitution C A intron_variant PACA-CA 4 103723216 103723216 single base substitution T C downstream_gene_variant PACA-CA 4 103723216 103723216 single base substitution T C exon_variant PACA-CA 4 103723216 103723216 single base substitution T C intron_variant PACA-CA 4 103726161 103726161 single base substitution T G downstream_gene_variant PACA-CA 4 103726161 103726161 single base substitution T G intron_variant PACA-CA 4 103726161 103726161 single base substitution T G upstream_gene_variant PACA-CA 4 103728325 103728325 single base substitution C T downstream_gene_variant PACA-CA 4 103728325 103728325 single base substitution C T intron_variant PACA-CA 4 103728325 103728325 single base substitution C T upstream_gene_variant PACA-CA 4 103733982 103733982 single base substitution A C exon_variant PACA-CA 4 103733982 103733982 single base substitution A C intron_variant PACA-CA 4 103733982 103733982 single base substitution A C upstream_gene_variant PACA-CA 4 103734284 103734284 single base substitution T A intron_variant PACA-CA 4 103734284 103734284 single base substitution T A upstream_gene_variant PACA-CA 4 103734740 103734740 single base substitution C T intron_variant PACA-CA 4 103734740 103734740 single base substitution C T upstream_gene_variant PACA-CA 4 103736725 103736725 single base substitution G A intron_variant PACA-CA 4 103736725 103736725 single base substitution G A upstream_gene_variant PACA-CA 4 103740637 103740637 single base substitution G C intron_variant PACA-CA 4 103740795 103740795 single base substitution T C intron_variant PACA-CA 4 103742001 103742001 insertion of <=200bp - C intron_variant PACA-CA 4 103742582 103742582 single base substitution G A intron_variant PACA-CA 4 103744413 103744413 single base substitution A T intron_variant PACA-CA 4 103747220 103747220 single base substitution C T intron_variant PACA-CA 4 103747220 103747220 single base substitution C T upstream_gene_variant PACA-CA 4 103748775 103748775 single base substitution C T 5_prime_UTR_variant PACA-CA 4 103748775 103748775 single base substitution C T intron_variant PACA-CA 4 103748775 103748775 single base substitution C T upstream_gene_variant PACA-CA 4 103749319 103749319 single base substitution G T intron_variant PACA-CA 4 103749319 103749319 single base substitution G T upstream_gene_variant PACA-CA 4 103752337 103752337 single base substitution T G intron_variant PACA-CA 4 103752337 103752337 single base substitution T G upstream_gene_variant PACA-CA 4 103756752 103756752 single base substitution A C intron_variant PACA-CA 4 103759035 103759035 single base substitution C T intron_variant PACA-CA 4 103761410 103761410 single base substitution A T intron_variant PACA-CA 4 103761883 103761883 deletion of <=200bp A - intron_variant PACA-CA 4 103770262 103770262 single base substitution T C intron_variant PACA-CA 4 103770293 103770293 single base substitution G A intron_variant PACA-CA 4 103771554 103771554 single base substitution G T intron_variant PACA-CA 4 103779404 103779404 single base substitution A T intron_variant PACA-CA 4 103784024 103784024 single base substitution G A intron_variant PACA-CA 4 103788259 103788259 single base substitution G T intron_variant PACA-CA 4 103789399 103789399 single base substitution C G intron_variant PACA-CA 4 103790854 103790854 single base substitution A G upstream_gene_variant PAEN-AU 4 103739627 103739627 single base substitution T A intron_variant PAEN-AU 4 103752056 103752056 single base substitution C G intron_variant PAEN-AU 4 103752056 103752056 single base substitution C G upstream_gene_variant PAEN-IT 4 103718318 103718318 single base substitution T A 3_prime_UTR_variant PAEN-IT 4 103718318 103718318 single base substitution T A downstream_gene_variant PAEN-IT 4 103718318 103718318 single base substitution T A exon_variant PAEN-IT 4 103734506 103734506 single base substitution G A intron_variant PAEN-IT 4 103734506 103734506 single base substitution G A upstream_gene_variant PAEN-IT 4 103760981 103760981 single base substitution G A intron_variant PAEN-IT 4 103784274 103784274 single base substitution C A intron_variant PBCA-DE 4 103719434 103719434 single base substitution T G downstream_gene_variant PBCA-DE 4 103719434 103719434 single base substitution T G intron_variant PBCA-DE 4 103720983 103720983 single base substitution A T downstream_gene_variant PBCA-DE 4 103720983 103720983 single base substitution A T intron_variant PBCA-DE 4 103731495 103731495 single base substitution G T exon_variant PBCA-DE 4 103731495 103731495 single base substitution G T intron_variant PBCA-DE 4 103731495 103731495 single base substitution G T upstream_gene_variant PBCA-DE 4 103751077 103751077 insertion of <=200bp - A intron_variant PBCA-DE 4 103751077 103751077 insertion of <=200bp - A upstream_gene_variant PBCA-DE 4 103764040 103764040 single base substitution G T intron_variant PRAD-CA 4 103718318 103718318 single base substitution T A 3_prime_UTR_variant PRAD-CA 4 103718318 103718318 single base substitution T A downstream_gene_variant PRAD-CA 4 103718318 103718318 single base substitution T A exon_variant PRAD-CA 4 103719434 103719434 single base substitution T G downstream_gene_variant PRAD-CA 4 103719434 103719434 single base substitution T G intron_variant PRAD-CA 4 103721392 103721392 single base substitution A T downstream_gene_variant PRAD-CA 4 103721392 103721392 single base substitution A T intron_variant PRAD-CA 4 103723053 103723053 single base substitution G C downstream_gene_variant PRAD-CA 4 103723053 103723053 single base substitution G C exon_variant PRAD-CA 4 103723053 103723053 single base substitution G C intron_variant PRAD-CA 4 103726245 103726245 single base substitution G A downstream_gene_variant PRAD-CA 4 103726245 103726245 single base substitution G A intron_variant PRAD-CA 4 103726245 103726245 single base substitution G A upstream_gene_variant PRAD-CA 4 103764023 103764023 single base substitution T G intron_variant PRAD-CA 4 103776551 103776551 single base substitution A G intron_variant PRAD-CA 4 103794502 103794502 single base substitution C A upstream_gene_variant PRAD-UK 4 103713084 103713084 single base substitution C T downstream_gene_variant PRAD-UK 4 103719798 103719798 single base substitution C G downstream_gene_variant PRAD-UK 4 103719798 103719798 single base substitution C G intron_variant PRAD-UK 4 103734278 103734278 single base substitution A T intron_variant PRAD-UK 4 103734278 103734278 single base substitution A T upstream_gene_variant PRAD-UK 4 103738993 103739002 deletion of <=200bp ATTTCCAACG - intron_variant PRAD-UK 4 103738993 103739002 deletion of <=200bp ATTTCCAACG - upstream_gene_variant PRAD-UK 4 103750739 103750739 single base substitution C G intron_variant PRAD-UK 4 103750739 103750739 single base substitution C G upstream_gene_variant PRAD-UK 4 103759121 103759121 single base substitution T G intron_variant PRAD-UK 4 103765959 103765959 single base substitution C T intron_variant PRAD-UK 4 103767177 103767177 single base substitution G A intron_variant PRAD-UK 4 103778645 103778645 single base substitution C A intron_variant PRAD-UK 4 103781198 103781198 single base substitution G A intron_variant PRAD-US 4 103720584 103720584 single base substitution G T 3_prime_UTR_variant PRAD-US 4 103720584 103720584 single base substitution G T downstream_gene_variant PRAD-US 4 103720584 103720584 single base substitution G T exon_variant PRAD-US 4 103720584 103720584 single base substitution G T synonymous_variant I120I 360C>A PRAD-US 4 103720584 103720584 single base substitution G T synonymous_variant I126I 378C>A PRAD-US 4 103720584 103720584 single base substitution G T synonymous_variant I128I 384C>A PRAD-US 4 103720584 103720584 single base substitution G T synonymous_variant I97I 291C>A READ-US 4 103720655 103720655 single base substitution G T downstream_gene_variant READ-US 4 103720655 103720655 single base substitution G T missense_variant L103I 307C>A READ-US 4 103720655 103720655 single base substitution G T missense_variant L105I 313C>A READ-US 4 103720655 103720655 single base substitution G T missense_variant L74I 220C>A READ-US 4 103720655 103720655 single base substitution G T missense_variant L97I 289C>A READ-US 4 103720655 103720655 single base substitution G T splice_region_variant RECA-EU 4 103715055 103715055 single base substitution G C downstream_gene_variant RECA-EU 4 103718336 103718336 single base substitution G A 3_prime_UTR_variant RECA-EU 4 103718336 103718336 single base substitution G A downstream_gene_variant RECA-EU 4 103718336 103718336 single base substitution G A exon_variant RECA-EU 4 103738277 103738277 single base substitution A T intron_variant RECA-EU 4 103738277 103738277 single base substitution A T upstream_gene_variant RECA-EU 4 103738630 103738630 single base substitution A G intron_variant RECA-EU 4 103738630 103738630 single base substitution A G upstream_gene_variant RECA-EU 4 103774294 103774294 single base substitution T C intron_variant RECA-EU 4 103777838 103777838 single base substitution T G intron_variant RECA-EU 4 103793210 103793210 single base substitution T A upstream_gene_variant SKCA-BR 4 103716140 103716140 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 103716140 103716140 single base substitution G A downstream_gene_variant SKCA-BR 4 103717553 103717553 single base substitution A C 3_prime_UTR_variant SKCA-BR 4 103717553 103717553 single base substitution A C downstream_gene_variant SKCA-BR 4 103717553 103717553 single base substitution A C exon_variant SKCA-BR 4 103718001 103718001 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 103718001 103718001 single base substitution C T downstream_gene_variant SKCA-BR 4 103718001 103718001 single base substitution C T exon_variant SKCA-BR 4 103718148 103718148 single base substitution G A 3_prime_UTR_variant SKCA-BR 4 103718148 103718148 single base substitution G A downstream_gene_variant SKCA-BR 4 103718148 103718148 single base substitution G A exon_variant SKCA-BR 4 103719436 103719436 insertion of <=200bp - AATATATATATATATATATATATAT downstream_gene_variant SKCA-BR 4 103719436 103719436 insertion of <=200bp - AATATATATATATATATATATATAT intron_variant SKCA-BR 4 103720263 103720263 single base substitution G A downstream_gene_variant SKCA-BR 4 103720263 103720263 single base substitution G A intron_variant SKCA-BR 4 103720444 103720444 single base substitution T C downstream_gene_variant SKCA-BR 4 103720444 103720444 single base substitution T C intron_variant SKCA-BR 4 103720844 103720844 single base substitution T A downstream_gene_variant SKCA-BR 4 103720844 103720844 single base substitution T A intron_variant SKCA-BR 4 103731653 103731653 single base substitution G T exon_variant SKCA-BR 4 103731653 103731653 single base substitution G T intron_variant SKCA-BR 4 103731653 103731653 single base substitution G T upstream_gene_variant SKCA-BR 4 103736392 103736392 single base substitution G A intron_variant SKCA-BR 4 103736392 103736392 single base substitution G A upstream_gene_variant SKCA-BR 4 103738771 103738771 single base substitution G A intron_variant SKCA-BR 4 103738771 103738771 single base substitution G A upstream_gene_variant SKCA-BR 4 103741271 103741271 single base substitution G A intron_variant SKCA-BR 4 103743544 103743544 single base substitution C G intron_variant SKCA-BR 4 103744241 103744241 single base substitution C G intron_variant SKCA-BR 4 103744660 103744660 single base substitution C T intron_variant SKCA-BR 4 103748734 103748734 single base substitution T C 5_prime_UTR_variant SKCA-BR 4 103748734 103748734 single base substitution T C intron_variant SKCA-BR 4 103748734 103748734 single base substitution T C upstream_gene_variant SKCA-BR 4 103751893 103751893 single base substitution C A intron_variant SKCA-BR 4 103751893 103751893 single base substitution C A upstream_gene_variant SKCA-BR 4 103755248 103755248 single base substitution A C intron_variant SKCA-BR 4 103757641 103757641 single base substitution T C intron_variant SKCA-BR 4 103761537 103761537 single base substitution T C intron_variant SKCA-BR 4 103761917 103761917 single base substitution G A intron_variant SKCA-BR 4 103766537 103766537 single base substitution C T intron_variant SKCA-BR 4 103766720 103766720 single base substitution G A intron_variant SKCA-BR 4 103767070 103767070 single base substitution C T intron_variant SKCA-BR 4 103768351 103768351 single base substitution C T intron_variant SKCA-BR 4 103771726 103771726 single base substitution A C intron_variant SKCA-BR 4 103774292 103774292 insertion of <=200bp - ATC intron_variant SKCA-BR 4 103774292 103774292 insertion of <=200bp - ATCT intron_variant SKCA-BR 4 103774292 103774292 insertion of <=200bp - ATCTTTTTTT intron_variant SKCA-BR 4 103774292 103774292 insertion of <=200bp - ATCTTTTTTTT intron_variant SKCA-BR 4 103774293 103774293 insertion of <=200bp - TC intron_variant SKCA-BR 4 103774294 103774294 single base substitution T C intron_variant SKCA-BR 4 103776859 103776859 single base substitution C T intron_variant SKCA-BR 4 103781580 103781580 single base substitution A G intron_variant SKCA-BR 4 103794154 103794154 single base substitution A G upstream_gene_variant SKCA-BR 4 103794885 103794887 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 4 103794927 103794927 single base substitution T A upstream_gene_variant SKCM-US 4 103723739 103723739 single base substitution G A 3_prime_UTR_variant SKCM-US 4 103723739 103723739 single base substitution G A downstream_gene_variant SKCM-US 4 103723739 103723739 single base substitution G A exon_variant SKCM-US 4 103723739 103723739 single base substitution G A synonymous_variant D30D 90C>T SKCM-US 4 103723739 103723739 single base substitution G A synonymous_variant D53D 159C>T SKCM-US 4 103723739 103723739 single base substitution G A synonymous_variant D59D 177C>T SKCM-US 4 103723739 103723739 single base substitution G A synonymous_variant D61D 183C>T SKCM-US 4 103723746 103723746 single base substitution G A 3_prime_UTR_variant SKCM-US 4 103723746 103723746 single base substitution G A downstream_gene_variant SKCM-US 4 103723746 103723746 single base substitution G A exon_variant SKCM-US 4 103723746 103723746 single base substitution G A missense_variant P28L 83C>T SKCM-US 4 103723746 103723746 single base substitution G A missense_variant P51L 152C>T SKCM-US 4 103723746 103723746 single base substitution G A missense_variant P57L 170C>T SKCM-US 4 103723746 103723746 single base substitution G A missense_variant P59L 176C>T SKCM-US 4 103730987 103730987 single base substitution G A 5_prime_UTR_variant SKCM-US 4 103730987 103730987 single base substitution G A exon_variant SKCM-US 4 103730987 103730987 single base substitution G A missense_variant P11L 32C>T SKCM-US 4 103730987 103730987 single base substitution G A missense_variant P17L 50C>T SKCM-US 4 103730987 103730987 single base substitution G A missense_variant P19L 56C>T STAD-US 4 103747704 103747704 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant STAD-US 4 103747704 103747704 single base substitution T C exon_variant STAD-US 4 103747704 103747704 single base substitution T C intron_variant STAD-US 4 103747704 103747704 single base substitution T C upstream_gene_variant STAD-US 4 103789880 103789880 single base substitution G T 5_prime_UTR_variant STAD-US 4 103789880 103789880 single base substitution G T missense_variant L8I 22C>A UCEC-US 4 103718615 103718615 single base substitution T C downstream_gene_variant UCEC-US 4 103718615 103718615 single base substitution T C missense_variant Y105C 314A>G UCEC-US 4 103718615 103718615 single base substitution T C missense_variant Y128C 383A>G UCEC-US 4 103718615 103718615 single base substitution T C missense_variant Y134C 401A>G UCEC-US 4 103718615 103718615 single base substitution T C missense_variant Y136C 407A>G UCEC-US 4 103718615 103718615 single base substitution T C splice_region_variant UCEC-US 4 103722616 103722616 single base substitution G T 3_prime_UTR_variant UCEC-US 4 103722616 103722616 single base substitution G T downstream_gene_variant UCEC-US 4 103722616 103722616 single base substitution G T exon_variant UCEC-US 4 103722616 103722616 single base substitution G T missense_variant S100Y 299C>A UCEC-US 4 103722616 103722616 single base substitution G T missense_variant S102Y 305C>A UCEC-US 4 103722616 103722616 single base substitution G T missense_variant S71Y 212C>A UCEC-US 4 103722616 103722616 single base substitution G T missense_variant S94Y 281C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CA-6718-01 COSM5145229 c.95-6T>G p.? Unknown 4:102809709-102809709 - TCGA-EB-A41A-01 COSM3598730 c.176C>T p.P59L Substitution - Missense 4:102802589-102802589 - TCGA-CA-6718-01 COSM2951965 c.127-10C>A p.? Unknown 4:102802648-102802648 - LP6007508-DNA_A01 COSM5952156 c.357C>T p.D119D Substitution - coding silent 4:102799454-102799454 - PT14_1 COSM5865506 c.320C>T p.S107F Substitution - Missense 4:102799491-102799491 - T3091 COSM4738669 c.30delA p.E11fs*44 Deletion - Frameshift 4:102868715-102868715 - SK-MEL-2 COSM1671173 c.76G>T p.G26C Substitution - Missense 4:102809810-102809810 - RKO COSM2951969 c.47C>T p.A16V Substitution - Missense 4:102809839-102809839 - TCGA-FW-A3R5-06 COSM3916882 c.56C>T p.P19L Substitution - Missense 4:102809830-102809830 - TCGA-DK-A1AC-01 COSM1309573 c.192C>G p.F64L Substitution - Missense 4:102802573-102802573 - YUPAT COSM1694753 c.422_423GG>AA p.R141Q Substitution - Missense 4:102797442-102797443 - TCGA-AP-A056-01 COSM1049598 c.407A>G p.Y136C Substitution - Missense 4:102797458-102797458 - CHC1742T COSM4792280 c.350C>A p.P117Q Substitution - Missense 4:102799461-102799461 - RK236_C01 COSM4780412 c.49C>T p.R17C Substitution - Missense 4:102809837-102809837 - ME001T COSM221699 c.14G>A p.R5Q Substitution - Missense 4:102868731-102868731 - Pat_76_A COSM5865506 c.320C>T p.S107F Substitution - Missense 4:102799491-102799491 - Pat_76_B COSM5865506 c.320C>T p.S107F Substitution - Missense 4:102799491-102799491 - TCGA-GC-A3YS-01 COSM3775451 c.96G>T p.M32I Substitution - Missense 4:102809702-102809702 - TCGA-AN-A046-01 COSM3428007 c.313C>A p.L105I Substitution - Missense 4:102799498-102799498 - RK152_C01 COSM3702498 c.201T>A p.P67P Substitution - coding silent 4:102802564-102802564 - Patient_4_Relapse COSM5415129 c.355G>C p.D119H Substitution - Missense 4:102799456-102799456 - TCGA-CC-5259-01 COSM4927992 c.310+2T>G p.? Unknown 4:102801452-102801452 - STC263 COSM5060032 c.184T>C p.Y62H Substitution - Missense 4:102802581-102802581 - 16461 COSM5615337 c.126+2T>A p.? Unknown 4:102809670-102809670 - CHC1742T COSM4792280 c.350C>A p.P117Q Substitution - Missense 4:102799461-102799461 - TCGA-HI-7168-01 COSM3674072 c.384C>A p.I128I Substitution - coding silent 4:102799427-102799427 - TCGA-AK-3436-01 COSM1137118 c.142C>T p.Q48* Substitution - Nonsense 4:102802623-102802623 - TCGA-CK-4951-01 COSM5151859 c.30+10T>C p.? Unknown 4:102868705-102868705 - TCGA-F5-6814-01 COSM3428007 c.313C>A p.L105I Substitution - Missense 4:102799498-102799498 - CSCC-62-T COSM4449694 c.310+2T>A p.? Unknown 4:102801452-102801452 - TCGA-BR-4184-01 COSM4121039 c.22C>A p.L8I Substitution - Missense 4:102868723-102868723 - TCGA-E9-A24A-01 COSM1485566 c.69T>G p.C23W Substitution - Missense 4:102809817-102809817 - PT44 COSM5926489 c.206T>C p.V69A Substitution - Missense 4:102801558-102801558 - SJOS010_D COSM5023775 c.31-1G>A p.? Unknown 4:102809856-102809856 - 07-P075 COSM4584697 c.316T>C p.L106L Substitution - coding silent 4:102799495-102799495 - CN-AML-NR-20-Dx COSM5427952 c.106C>A p.Q36K Substitution - Missense 4:102809692-102809692 - CN-AML-20-T COSM5427952 c.106C>A p.Q36K Substitution - Missense 4:102809692-102809692 - CAKI-1 COSM1684001 c.138_139delAT p.Y47fs*21 Deletion - Frameshift 4:102802626-102802627 - TCGA-61-1907-01 COSM1328005 c.50G>A p.R17H Substitution - Missense 4:102809836-102809836 - UM-SCC-47 COSM1328005 c.50G>A p.R17H Substitution - Missense 4:102809836-102809836 - HCC62T COSM1618208 c.266A>G p.D89G Substitution - Missense 4:102801498-102801498 - TCGA-BS-A0UF-01 COSM1049599 c.305C>A p.S102Y Substitution - Missense 4:102801459-102801459 - TCGA-EE-A182-06 COSM3598728 c.183C>T p.D61D Substitution - coding silent 4:102802582-102802582 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518773 4q24 602963 2433351|CGAP|BC037894|C/T|non-coding||1863|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-118T>G 4 103790019 CM A C 5-UTRSNV . c.1-65T>G 4 103789966 CM A C Missense p.C23W c.69T>G 4 103730974 BRCA - A Nonsense p.N81*fs*1 c.240dupT 4 103722681 LUAD A T IntronicSNV . c.31-16693T>A 4 103747705 CLL C A IntronicSNV . c.126+203G>T 4 103730626 DLBCL C A IntronicSNV . c.31-16728G>T 4 103747740 CM C A Missense p.M32I c.96G>T 4 103730859 HNSC C A Missense p.M32I c.96G>T 4 103730859 LGG C A Missense p.M32I c.96G>T 4 103730859 LUAD C G Missense p.G50R c.148G>C 4 103723774 CM - CTC IntronicInsertion . c.31-17863_31-17862insGGA 4 103748876 BRCA C T Missense p.R5Q c.14G>A 4 103789888 CM C T SpliceAcceptorSNV . c.127-1G>A 4 103723796 ALL C T SpliceAcceptorSNV . c.127-1G>A 4 103723796 LUAD G A Nonsense p.Q48* c.142C>T 4 103723780 RCCC G A Synonymous p.D61D c.183C>T 4 103723739 CM G A Synonymous p.G49G c.147C>T 4 103723775 LUAD GG CA Missense p.P59C c.175_176delinsTG 4 103723746 CM G T Synonymous p.I128I c.384C>A 4 103720584 PRAD T C IntronicSNV . c.126+115A>G 4 103730714 HC T C Missense p.M32V c.94A>G 4 103730949 CM T G IntronicSNV . c.31-15951A>C 4 103746963 CLL T G Missense p.Q48H c.144A>C 4 103723778 LUAD TGTGTA - IntronicDeletion . c.30+8292_30+8297delTACACA 4 103781575 CM