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 BRCA 4 165890903 165890903 + Silent SNP T T C TCGA-D8-A1Y3-01A-11D-A159-09 TCGA-D8-A1Y3-10A-01D-A159-09 g.chr4:165890903T>C c.252A>G c.(250-252)agA>agG p.R84R CESC 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr4:165890861C>G c.294G>C c.(292-294)aaG>aaC p.K98N CESC 4 165890861 165890861 + Missense_Mutation SNP C C G TCGA-Q1-A6DW-01A-11D-A32I-09 TCGA-Q1-A6DW-10B-01D-A32I-09 g.chr4:165890861C>G c.294G>C c.(292-294)aaG>aaC p.K98N ESCA 4 165891024 165891024 + Nonsense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 g.chr4:165891024C>T c.131G>A c.(130-132)tGg>tAg p.W44* ESCA 4 165891052 165891052 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr4:165891052A>C c.103T>G c.(103-105)Ttc>Gtc p.F35V LUAD 4 165891118 165891118 + Missense_Mutation SNP C C T TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr4:165891118C>T c.37G>A c.(37-39)Gag>Aag p.E13K SKCM 4 165890966 165890966 + Silent SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr4:165890966C>T c.189G>A c.(187-189)agG>agA p.R63R SKCM 4 165890967 165890967 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:165890967C>T c.188G>A c.(187-189)aGg>aAg p.R63K SKCM 4 165890999 165890999 + Silent SNP G G A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr4:165890999G>A c.156C>T c.(154-156)ccC>ccT p.P52P SKCM 4 165891000 165891000 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 g.chr4:165891000G>A c.155C>T c.(154-156)cCc>cTc p.P52L SKCM 4 165891010 165891010 + Missense_Mutation SNP C C T TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr4:165891010C>T c.145G>A c.(145-147)Gat>Aat p.D49N SKCM 4 165891019 165891019 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr4:165891019C>T c.136G>A c.(136-138)Gat>Aat p.D46N SKCM 4 165891019 165891019 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:165891019C>T c.136G>A c.(136-138)Gat>Aat p.D46N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 165878481 165878481 single base substitution A G intron_variant BRCA-EU 4 165870929 165870929 single base substitution G C downstream_gene_variant BRCA-EU 4 165871155 165871155 single base substitution C T downstream_gene_variant BRCA-EU 4 165871156 165871156 single base substitution C A downstream_gene_variant BRCA-EU 4 165871374 165871374 single base substitution T C downstream_gene_variant BRCA-EU 4 165871441 165871441 single base substitution C G downstream_gene_variant BRCA-EU 4 165871514 165871514 single base substitution C T downstream_gene_variant BRCA-EU 4 165871706 165871706 single base substitution A G downstream_gene_variant BRCA-EU 4 165874036 165874036 single base substitution C T downstream_gene_variant BRCA-EU 4 165874613 165874613 single base substitution C T downstream_gene_variant BRCA-EU 4 165874638 165874638 single base substitution C T downstream_gene_variant BRCA-EU 4 165876842 165876842 single base substitution G C intron_variant BRCA-EU 4 165878475 165878475 single base substitution G C intron_variant BRCA-EU 4 165878908 165878908 single base substitution G A intron_variant BRCA-EU 4 165879775 165879796 deletion of <=200bp AGAGATGTAATGGGAATAAATT - intron_variant BRCA-EU 4 165881457 165881457 single base substitution G A intron_variant BRCA-EU 4 165882746 165882746 deletion of <=200bp A - intron_variant BRCA-EU 4 165882746 165882746 insertion of <=200bp - A intron_variant BRCA-EU 4 165884505 165884505 single base substitution A C intron_variant BRCA-EU 4 165885204 165885204 single base substitution G C intron_variant BRCA-EU 4 165885298 165885298 single base substitution G A intron_variant BRCA-EU 4 165885899 165885899 single base substitution G A intron_variant BRCA-EU 4 165886030 165886030 single base substitution G A intron_variant BRCA-EU 4 165886522 165886522 single base substitution G A intron_variant BRCA-EU 4 165887720 165887720 single base substitution C G intron_variant BRCA-EU 4 165887752 165887752 single base substitution T C intron_variant BRCA-EU 4 165888906 165888906 single base substitution C T intron_variant BRCA-EU 4 165889009 165889009 single base substitution A G intron_variant BRCA-EU 4 165889086 165889086 single base substitution T G intron_variant BRCA-EU 4 165890234 165890234 single base substitution T A intron_variant BRCA-EU 4 165890548 165890548 single base substitution T C intron_variant BRCA-EU 4 165891271 165891271 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 165891612 165891612 single base substitution C G intron_variant BRCA-EU 4 165893391 165893391 deletion of <=200bp T - intron_variant BRCA-EU 4 165897177 165897177 single base substitution T G intron_variant BRCA-EU 4 165897718 165897718 single base substitution C G intron_variant BRCA-EU 4 165899371 165899371 single base substitution C G upstream_gene_variant BRCA-EU 4 165899877 165899877 single base substitution G T upstream_gene_variant BRCA-EU 4 165901145 165901145 single base substitution G C upstream_gene_variant BRCA-EU 4 165901156 165901156 single base substitution G A upstream_gene_variant BRCA-EU 4 165901399 165901399 single base substitution A G upstream_gene_variant BRCA-EU 4 165901449 165901449 single base substitution G A upstream_gene_variant BRCA-EU 4 165903063 165903063 single base substitution A G upstream_gene_variant BRCA-FR 4 165874036 165874036 single base substitution C T downstream_gene_variant BRCA-FR 4 165874613 165874613 single base substitution C T downstream_gene_variant BRCA-FR 4 165874638 165874638 single base substitution C T downstream_gene_variant BRCA-FR 4 165878908 165878908 single base substitution G A intron_variant BRCA-FR 4 165885298 165885298 single base substitution G A intron_variant BRCA-FR 4 165903063 165903063 single base substitution A G upstream_gene_variant BRCA-UK 4 165890234 165890234 single base substitution T A intron_variant BRCA-US 4 165878324 165878324 single base substitution C T intron_variant BRCA-US 4 165878596 165878596 single base substitution G C intron_variant BRCA-US 4 165890903 165890903 single base substitution T C synonymous_variant R84R 252A>G BTCA-JP 4 165876326 165876326 single base substitution A T intron_variant CESC-US 4 165890861 165890861 single base substitution C G missense_variant K98N 294G>C CLLE-ES 4 165898845 165898845 single base substitution C T upstream_gene_variant COAD-US 4 165878221 165878221 single base substitution G A intron_variant COAD-US 4 165878321 165878321 single base substitution G A intron_variant COCA-CN 4 165875582 165875582 single base substitution C A downstream_gene_variant COCA-CN 4 165878431 165878431 single base substitution C T intron_variant COCA-CN 4 165890861 165890861 single base substitution C A missense_variant K98N 294G>T COCA-CN 4 165891114 165891114 single base substitution G T missense_variant A14D 41C>A COCA-CN 4 165897353 165897353 single base substitution T C intron_variant COCA-CN 4 165897415 165897415 single base substitution C T intron_variant COCA-CN 4 165897416 165897416 single base substitution G A intron_variant COCA-CN 4 165897420 165897420 single base substitution C A intron_variant COCA-CN 4 165897429 165897429 single base substitution C T intron_variant COCA-CN 4 165901661 165901661 single base substitution G T upstream_gene_variant COCA-CN 4 165902926 165902926 single base substitution C A upstream_gene_variant ESAD-UK 4 165870803 165870803 single base substitution A T downstream_gene_variant ESAD-UK 4 165872076 165872076 single base substitution A G downstream_gene_variant ESAD-UK 4 165872508 165872508 single base substitution G T downstream_gene_variant ESAD-UK 4 165873086 165873086 single base substitution A T downstream_gene_variant ESAD-UK 4 165873484 165873484 single base substitution T G downstream_gene_variant ESAD-UK 4 165874388 165874388 single base substitution G T downstream_gene_variant ESAD-UK 4 165874410 165874410 single base substitution A C downstream_gene_variant ESAD-UK 4 165875064 165875064 deletion of <=200bp A - downstream_gene_variant ESAD-UK 4 165875313 165875313 single base substitution T C downstream_gene_variant ESAD-UK 4 165875746 165875746 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 165875972 165875972 single base substitution T G intron_variant ESAD-UK 4 165876041 165876041 single base substitution G A intron_variant ESAD-UK 4 165876426 165876426 single base substitution A C intron_variant ESAD-UK 4 165876793 165876793 single base substitution T G intron_variant ESAD-UK 4 165877946 165877946 single base substitution T C intron_variant ESAD-UK 4 165878082 165878082 single base substitution G A intron_variant ESAD-UK 4 165878134 165878134 single base substitution C T intron_variant ESAD-UK 4 165878280 165878280 single base substitution T C intron_variant ESAD-UK 4 165878445 165878445 single base substitution C T intron_variant ESAD-UK 4 165878518 165878518 single base substitution C T intron_variant ESAD-UK 4 165881598 165881598 single base substitution T C intron_variant ESAD-UK 4 165882032 165882032 single base substitution A C intron_variant ESAD-UK 4 165883015 165883015 single base substitution A T intron_variant ESAD-UK 4 165884871 165884871 single base substitution G T intron_variant ESAD-UK 4 165885133 165885133 single base substitution A C intron_variant ESAD-UK 4 165885391 165885391 single base substitution T C intron_variant ESAD-UK 4 165886159 165886159 single base substitution G T intron_variant ESAD-UK 4 165886311 165886311 single base substitution G A intron_variant ESAD-UK 4 165887819 165887819 single base substitution C T intron_variant ESAD-UK 4 165888155 165888155 single base substitution T C intron_variant ESAD-UK 4 165888318 165888318 single base substitution T C intron_variant ESAD-UK 4 165888330 165888330 single base substitution C G intron_variant ESAD-UK 4 165889436 165889436 insertion of <=200bp - A intron_variant ESAD-UK 4 165889896 165889896 insertion of <=200bp - A intron_variant ESAD-UK 4 165889984 165889984 single base substitution G A intron_variant ESAD-UK 4 165892036 165892036 single base substitution G A intron_variant ESAD-UK 4 165892514 165892514 single base substitution T C intron_variant ESAD-UK 4 165893225 165893225 single base substitution T G intron_variant ESAD-UK 4 165893624 165893624 single base substitution C T intron_variant ESAD-UK 4 165893688 165893688 single base substitution T C intron_variant ESAD-UK 4 165893708 165893708 single base substitution T G intron_variant ESAD-UK 4 165893931 165893931 single base substitution G A intron_variant ESAD-UK 4 165894236 165894236 single base substitution A C intron_variant ESAD-UK 4 165894950 165894950 single base substitution T G intron_variant ESAD-UK 4 165895559 165895559 single base substitution T G intron_variant ESAD-UK 4 165896152 165896152 single base substitution A C intron_variant ESAD-UK 4 165896254 165896254 single base substitution G A intron_variant ESAD-UK 4 165898144 165898144 single base substitution G A intron_variant ESAD-UK 4 165898412 165898412 single base substitution G A intron_variant ESAD-UK 4 165898487 165898487 single base substitution A G intron_variant ESAD-UK 4 165898694 165898694 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 4 165899454 165899454 single base substitution C T upstream_gene_variant ESAD-UK 4 165900210 165900210 single base substitution G T upstream_gene_variant ESAD-UK 4 165900411 165900411 single base substitution G A upstream_gene_variant ESAD-UK 4 165900538 165900538 single base substitution A T upstream_gene_variant ESAD-UK 4 165901247 165901247 single base substitution A T upstream_gene_variant ESAD-UK 4 165901477 165901477 single base substitution G A upstream_gene_variant KIRC-US 4 165878425 165878426 deletion of <=200bp TC - intron_variant LICA-CN 4 165890920 165890920 single base substitution T A stop_gained K79* 235A>T LICA-FR 4 165871827 165871827 single base substitution A C downstream_gene_variant LICA-FR 4 165872301 165872301 single base substitution T C downstream_gene_variant LICA-FR 4 165877335 165877335 single base substitution A T intron_variant LICA-FR 4 165881736 165881736 single base substitution G T intron_variant LICA-FR 4 165884897 165884898 deletion of <=200bp AA - intron_variant LICA-FR 4 165890159 165890159 single base substitution T C intron_variant LICA-FR 4 165896704 165896704 single base substitution A G intron_variant LICA-FR 4 165897415 165897415 single base substitution C T intron_variant LINC-JP 4 165876915 165876915 single base substitution C T intron_variant LINC-JP 4 165884501 165884501 single base substitution A G intron_variant LINC-JP 4 165893179 165893179 single base substitution T C intron_variant LIRI-JP 4 165871673 165871673 single base substitution A G downstream_gene_variant LIRI-JP 4 165871755 165871755 single base substitution T C downstream_gene_variant LIRI-JP 4 165872366 165872366 single base substitution A G downstream_gene_variant LIRI-JP 4 165872748 165872748 single base substitution G A downstream_gene_variant LIRI-JP 4 165874375 165874375 single base substitution T C downstream_gene_variant LIRI-JP 4 165876325 165876325 single base substitution C T intron_variant LIRI-JP 4 165877297 165877297 single base substitution A T intron_variant LIRI-JP 4 165877366 165877366 single base substitution G T intron_variant LIRI-JP 4 165877994 165877994 single base substitution T G intron_variant LIRI-JP 4 165878416 165878416 single base substitution G T intron_variant LIRI-JP 4 165878830 165878830 single base substitution C T intron_variant LIRI-JP 4 165882144 165882144 single base substitution A G intron_variant LIRI-JP 4 165882550 165882550 single base substitution A C intron_variant LIRI-JP 4 165882894 165882894 single base substitution C A intron_variant LIRI-JP 4 165891508 165891508 single base substitution A C intron_variant LIRI-JP 4 165893250 165893250 single base substitution G T intron_variant LIRI-JP 4 165893337 165893337 single base substitution G T intron_variant LIRI-JP 4 165893978 165893978 single base substitution A G intron_variant LIRI-JP 4 165894068 165894068 single base substitution C T intron_variant LIRI-JP 4 165897527 165897527 single base substitution C T intron_variant LIRI-JP 4 165901329 165901329 single base substitution T G upstream_gene_variant LIRI-JP 4 165902447 165902447 single base substitution T C upstream_gene_variant LIRI-JP 4 165902448 165902448 single base substitution A G upstream_gene_variant LIRI-JP 4 165902832 165902832 single base substitution G A upstream_gene_variant LIRI-JP 4 165903282 165903282 single base substitution T C upstream_gene_variant LUSC-KR 4 165870605 165870605 single base substitution A G downstream_gene_variant LUSC-KR 4 165871218 165871218 single base substitution G A downstream_gene_variant LUSC-KR 4 165873171 165873171 single base substitution T C downstream_gene_variant LUSC-KR 4 165874330 165874330 single base substitution C A downstream_gene_variant LUSC-KR 4 165874535 165874535 single base substitution C A downstream_gene_variant LUSC-KR 4 165876681 165876681 single base substitution A G intron_variant LUSC-KR 4 165877045 165877045 single base substitution C A intron_variant LUSC-KR 4 165880405 165880405 single base substitution G A intron_variant LUSC-KR 4 165886183 165886183 single base substitution G C intron_variant LUSC-KR 4 165886617 165886617 single base substitution G T intron_variant LUSC-KR 4 165890465 165890465 single base substitution T C intron_variant LUSC-KR 4 165890745 165890745 single base substitution G A missense_variant A137V 410C>T LUSC-KR 4 165891236 165891236 single base substitution A G 5_prime_UTR_variant LUSC-KR 4 165892573 165892573 single base substitution G A intron_variant LUSC-KR 4 165893946 165893946 single base substitution A G intron_variant LUSC-KR 4 165899128 165899128 single base substitution T A upstream_gene_variant LUSC-KR 4 165899572 165899572 single base substitution A T upstream_gene_variant LUSC-KR 4 165900966 165900966 single base substitution T C upstream_gene_variant LUSC-US 4 165878325 165878325 single base substitution G T intron_variant LUSC-US 4 165878495 165878495 single base substitution G T intron_variant MALY-DE 4 165871542 165871542 insertion of <=200bp - A downstream_gene_variant MALY-DE 4 165873157 165873157 single base substitution G T downstream_gene_variant MALY-DE 4 165873887 165873887 single base substitution G A downstream_gene_variant MALY-DE 4 165877513 165877513 single base substitution G A intron_variant MALY-DE 4 165880527 165880527 single base substitution C A intron_variant MALY-DE 4 165882220 165882220 single base substitution A G intron_variant MALY-DE 4 165882280 165882280 single base substitution A T intron_variant MALY-DE 4 165886874 165886874 single base substitution T C intron_variant MALY-DE 4 165895191 165895191 single base substitution G A intron_variant MALY-DE 4 165897381 165897381 single base substitution C T intron_variant MALY-DE 4 165897453 165897453 single base substitution C T intron_variant MALY-DE 4 165899066 165899066 single base substitution G C upstream_gene_variant MELA-AU 4 165870747 165870747 single base substitution C T downstream_gene_variant MELA-AU 4 165870760 165870760 single base substitution G A downstream_gene_variant MELA-AU 4 165870771 165870771 single base substitution C T downstream_gene_variant MELA-AU 4 165870807 165870807 single base substitution C T downstream_gene_variant MELA-AU 4 165870915 165870915 single base substitution G A downstream_gene_variant MELA-AU 4 165871236 165871236 single base substitution C T downstream_gene_variant MELA-AU 4 165871288 165871288 single base substitution C T downstream_gene_variant MELA-AU 4 165871396 165871396 single base substitution G A downstream_gene_variant MELA-AU 4 165871431 165871431 single base substitution C T downstream_gene_variant MELA-AU 4 165871505 165871505 single base substitution T C downstream_gene_variant MELA-AU 4 165871639 165871639 single base substitution A C downstream_gene_variant MELA-AU 4 165871656 165871656 single base substitution C T downstream_gene_variant MELA-AU 4 165871670 165871670 single base substitution C T downstream_gene_variant MELA-AU 4 165871686 165871686 single base substitution C T downstream_gene_variant MELA-AU 4 165871834 165871834 single base substitution C T downstream_gene_variant MELA-AU 4 165871902 165871902 single base substitution G A downstream_gene_variant MELA-AU 4 165871960 165871960 single base substitution G A downstream_gene_variant MELA-AU 4 165871983 165871983 single base substitution C T downstream_gene_variant MELA-AU 4 165872156 165872156 single base substitution G A downstream_gene_variant MELA-AU 4 165872197 165872197 single base substitution G A downstream_gene_variant MELA-AU 4 165872576 165872576 single base substitution C T downstream_gene_variant MELA-AU 4 165872641 165872641 single base substitution G A downstream_gene_variant MELA-AU 4 165872655 165872655 single base substitution C T downstream_gene_variant MELA-AU 4 165872819 165872819 single base substitution G A downstream_gene_variant MELA-AU 4 165873099 165873099 single base substitution G A downstream_gene_variant MELA-AU 4 165873124 165873124 single base substitution C T downstream_gene_variant MELA-AU 4 165873216 165873216 single base substitution A T downstream_gene_variant MELA-AU 4 165873223 165873223 single base substitution G A downstream_gene_variant MELA-AU 4 165873309 165873309 single base substitution C T downstream_gene_variant MELA-AU 4 165873401 165873401 single base substitution C T downstream_gene_variant MELA-AU 4 165873553 165873553 single base substitution G A downstream_gene_variant MELA-AU 4 165873606 165873606 single base substitution G A downstream_gene_variant MELA-AU 4 165873943 165873943 single base substitution G A downstream_gene_variant MELA-AU 4 165874040 165874040 single base substitution C T downstream_gene_variant MELA-AU 4 165874126 165874126 single base substitution C T downstream_gene_variant MELA-AU 4 165874135 165874135 single base substitution C T downstream_gene_variant MELA-AU 4 165874193 165874193 single base substitution G A downstream_gene_variant MELA-AU 4 165874552 165874552 single base substitution G A downstream_gene_variant MELA-AU 4 165874558 165874558 single base substitution C T downstream_gene_variant MELA-AU 4 165874562 165874562 single base substitution C T downstream_gene_variant MELA-AU 4 165874649 165874649 single base substitution C T downstream_gene_variant MELA-AU 4 165874725 165874725 single base substitution C T downstream_gene_variant MELA-AU 4 165874900 165874900 single base substitution A C downstream_gene_variant MELA-AU 4 165874994 165874994 single base substitution G A downstream_gene_variant MELA-AU 4 165875073 165875073 single base substitution T G downstream_gene_variant MELA-AU 4 165875098 165875099 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 165875130 165875130 single base substitution T C downstream_gene_variant MELA-AU 4 165875182 165875182 single base substitution C T downstream_gene_variant MELA-AU 4 165875254 165875254 single base substitution C T downstream_gene_variant MELA-AU 4 165875277 165875277 single base substitution A T downstream_gene_variant MELA-AU 4 165875311 165875311 single base substitution C T downstream_gene_variant MELA-AU 4 165875347 165875347 single base substitution G A downstream_gene_variant MELA-AU 4 165875455 165875455 single base substitution C G downstream_gene_variant MELA-AU 4 165875501 165875501 single base substitution G A downstream_gene_variant MELA-AU 4 165875589 165875589 single base substitution G A downstream_gene_variant MELA-AU 4 165875846 165875846 single base substitution T A 3_prime_UTR_variant MELA-AU 4 165876052 165876052 single base substitution G A intron_variant MELA-AU 4 165876079 165876079 single base substitution C T intron_variant MELA-AU 4 165876180 165876180 single base substitution G A synonymous_variant L198L 594C>T MELA-AU 4 165876238 165876238 single base substitution G A missense_variant P179L 536C>T MELA-AU 4 165876261 165876261 single base substitution A T intron_variant MELA-AU 4 165876322 165876322 single base substitution G A intron_variant MELA-AU 4 165876343 165876343 single base substitution C T intron_variant MELA-AU 4 165876533 165876533 single base substitution C T intron_variant MELA-AU 4 165876665 165876665 single base substitution G A intron_variant MELA-AU 4 165876846 165876846 single base substitution G A intron_variant MELA-AU 4 165876871 165876871 single base substitution C T intron_variant MELA-AU 4 165877022 165877022 single base substitution G A intron_variant MELA-AU 4 165877045 165877045 single base substitution C T intron_variant MELA-AU 4 165877121 165877122 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 165877567 165877567 single base substitution G A intron_variant MELA-AU 4 165877866 165877866 single base substitution C T intron_variant MELA-AU 4 165877996 165877996 single base substitution C T intron_variant MELA-AU 4 165878028 165878028 single base substitution G A intron_variant MELA-AU 4 165879053 165879053 single base substitution C T intron_variant MELA-AU 4 165879694 165879694 single base substitution C T intron_variant MELA-AU 4 165879758 165879758 single base substitution A G intron_variant MELA-AU 4 165880331 165880331 single base substitution C T intron_variant MELA-AU 4 165880368 165880368 single base substitution C T intron_variant MELA-AU 4 165880782 165880782 single base substitution G A intron_variant MELA-AU 4 165881444 165881444 single base substitution C T intron_variant MELA-AU 4 165881666 165881666 single base substitution C T intron_variant MELA-AU 4 165881686 165881686 single base substitution G A intron_variant MELA-AU 4 165881721 165881721 single base substitution G A intron_variant MELA-AU 4 165881733 165881733 single base substitution C T intron_variant MELA-AU 4 165881778 165881778 single base substitution C T intron_variant MELA-AU 4 165882011 165882011 single base substitution G A intron_variant MELA-AU 4 165882439 165882439 single base substitution G A intron_variant MELA-AU 4 165882759 165882759 single base substitution C T intron_variant MELA-AU 4 165882788 165882788 single base substitution C T intron_variant MELA-AU 4 165883039 165883039 single base substitution C T intron_variant MELA-AU 4 165883633 165883633 single base substitution G A intron_variant MELA-AU 4 165883664 165883664 single base substitution G A intron_variant MELA-AU 4 165883749 165883749 single base substitution C T intron_variant MELA-AU 4 165884058 165884058 single base substitution G A intron_variant MELA-AU 4 165884131 165884131 single base substitution T A intron_variant MELA-AU 4 165884449 165884449 single base substitution T C intron_variant MELA-AU 4 165884548 165884548 single base substitution C T intron_variant MELA-AU 4 165884612 165884612 single base substitution C T intron_variant MELA-AU 4 165884746 165884746 single base substitution A C intron_variant MELA-AU 4 165884780 165884780 single base substitution C T intron_variant MELA-AU 4 165884791 165884791 single base substitution G A intron_variant MELA-AU 4 165885132 165885132 single base substitution G A intron_variant MELA-AU 4 165885180 165885180 single base substitution C T intron_variant MELA-AU 4 165885297 165885297 single base substitution C T intron_variant MELA-AU 4 165885419 165885419 single base substitution G A intron_variant MELA-AU 4 165885623 165885623 single base substitution G A intron_variant MELA-AU 4 165885855 165885855 single base substitution G A intron_variant MELA-AU 4 165885890 165885890 single base substitution G A intron_variant MELA-AU 4 165886135 165886135 single base substitution C T intron_variant MELA-AU 4 165886256 165886256 single base substitution A C intron_variant MELA-AU 4 165886364 165886364 single base substitution C A intron_variant MELA-AU 4 165886529 165886529 single base substitution G A intron_variant MELA-AU 4 165886649 165886649 single base substitution G A intron_variant MELA-AU 4 165886702 165886702 single base substitution C T intron_variant MELA-AU 4 165886759 165886759 single base substitution G A intron_variant MELA-AU 4 165887017 165887017 single base substitution G A intron_variant MELA-AU 4 165887598 165887598 single base substitution C T intron_variant MELA-AU 4 165888062 165888062 single base substitution G A intron_variant MELA-AU 4 165888237 165888237 single base substitution G A intron_variant MELA-AU 4 165888880 165888880 single base substitution G A intron_variant MELA-AU 4 165889186 165889186 single base substitution C T intron_variant MELA-AU 4 165889253 165889253 single base substitution G A intron_variant MELA-AU 4 165889295 165889295 single base substitution G A intron_variant MELA-AU 4 165889412 165889412 single base substitution A T intron_variant MELA-AU 4 165889843 165889843 single base substitution G A intron_variant MELA-AU 4 165889993 165889993 single base substitution C T intron_variant MELA-AU 4 165890124 165890125 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 165890196 165890196 single base substitution C T intron_variant MELA-AU 4 165890386 165890386 single base substitution G A intron_variant MELA-AU 4 165890484 165890484 single base substitution G A intron_variant MELA-AU 4 165890503 165890503 single base substitution C T intron_variant MELA-AU 4 165890524 165890524 single base substitution C T intron_variant MELA-AU 4 165890966 165890966 single base substitution C T synonymous_variant R63R 189G>A MELA-AU 4 165891002 165891002 single base substitution G A synonymous_variant F51F 153C>T MELA-AU 4 165891105 165891105 single base substitution G A missense_variant P17L 50C>T MELA-AU 4 165891123 165891123 single base substitution C T missense_variant R11Q 32G>A MELA-AU 4 165891213 165891213 single base substitution C T 5_prime_UTR_variant MELA-AU 4 165891675 165891675 single base substitution G T intron_variant MELA-AU 4 165892032 165892032 single base substitution C T intron_variant MELA-AU 4 165892626 165892626 single base substitution C T intron_variant MELA-AU 4 165892726 165892726 single base substitution G A intron_variant MELA-AU 4 165892888 165892888 single base substitution A T intron_variant MELA-AU 4 165893824 165893824 single base substitution G A intron_variant MELA-AU 4 165893879 165893879 single base substitution G A intron_variant MELA-AU 4 165893961 165893961 single base substitution C T intron_variant MELA-AU 4 165894013 165894013 single base substitution C T intron_variant MELA-AU 4 165894018 165894018 single base substitution C T intron_variant MELA-AU 4 165894039 165894039 single base substitution C T intron_variant MELA-AU 4 165894139 165894139 single base substitution G A intron_variant MELA-AU 4 165894222 165894222 single base substitution C T intron_variant MELA-AU 4 165894246 165894246 single base substitution C T intron_variant MELA-AU 4 165894541 165894541 single base substitution C T intron_variant MELA-AU 4 165894609 165894609 single base substitution C T intron_variant MELA-AU 4 165894766 165894766 single base substitution C T intron_variant MELA-AU 4 165895119 165895119 single base substitution G A intron_variant MELA-AU 4 165895572 165895572 single base substitution G A intron_variant MELA-AU 4 165895665 165895665 single base substitution C T intron_variant MELA-AU 4 165895790 165895790 single base substitution G A intron_variant MELA-AU 4 165895820 165895820 single base substitution C T intron_variant MELA-AU 4 165895858 165895858 single base substitution C T intron_variant MELA-AU 4 165896113 165896113 single base substitution G A intron_variant MELA-AU 4 165896133 165896133 single base substitution C T intron_variant MELA-AU 4 165896528 165896528 single base substitution G A intron_variant MELA-AU 4 165896544 165896544 single base substitution G A intron_variant MELA-AU 4 165896571 165896571 single base substitution G A intron_variant MELA-AU 4 165896636 165896636 single base substitution T G intron_variant MELA-AU 4 165896667 165896667 insertion of <=200bp - TG intron_variant MELA-AU 4 165896846 165896846 single base substitution G A intron_variant MELA-AU 4 165896954 165896954 single base substitution C A intron_variant MELA-AU 4 165896990 165896990 single base substitution G A intron_variant MELA-AU 4 165897101 165897101 single base substitution G A intron_variant MELA-AU 4 165897294 165897294 single base substitution C T intron_variant MELA-AU 4 165897482 165897482 single base substitution G A intron_variant MELA-AU 4 165897485 165897485 single base substitution C T intron_variant MELA-AU 4 165897528 165897528 single base substitution C T intron_variant MELA-AU 4 165897582 165897582 single base substitution C T intron_variant MELA-AU 4 165897796 165897796 single base substitution C T intron_variant MELA-AU 4 165898152 165898152 single base substitution C A intron_variant MELA-AU 4 165898380 165898380 single base substitution C T intron_variant MELA-AU 4 165898381 165898381 single base substitution C T intron_variant MELA-AU 4 165898738 165898738 single base substitution C T 5_prime_UTR_variant MELA-AU 4 165898777 165898777 single base substitution G A 5_prime_UTR_variant MELA-AU 4 165898830 165898830 single base substitution G A upstream_gene_variant MELA-AU 4 165898886 165898886 single base substitution G A upstream_gene_variant MELA-AU 4 165898952 165898952 single base substitution C T upstream_gene_variant MELA-AU 4 165899030 165899030 single base substitution G A upstream_gene_variant MELA-AU 4 165899162 165899162 single base substitution G A upstream_gene_variant MELA-AU 4 165899210 165899210 single base substitution G A upstream_gene_variant MELA-AU 4 165899528 165899528 single base substitution G A upstream_gene_variant MELA-AU 4 165899567 165899567 single base substitution C T upstream_gene_variant MELA-AU 4 165899652 165899652 single base substitution C T upstream_gene_variant MELA-AU 4 165899925 165899925 single base substitution C T upstream_gene_variant MELA-AU 4 165900069 165900069 single base substitution G A upstream_gene_variant MELA-AU 4 165900254 165900254 single base substitution G A upstream_gene_variant MELA-AU 4 165900337 165900337 single base substitution A T upstream_gene_variant MELA-AU 4 165900519 165900519 single base substitution G A upstream_gene_variant MELA-AU 4 165900662 165900662 single base substitution C T upstream_gene_variant MELA-AU 4 165900694 165900694 single base substitution C T upstream_gene_variant MELA-AU 4 165900708 165900708 single base substitution T C upstream_gene_variant MELA-AU 4 165900844 165900844 single base substitution G A upstream_gene_variant MELA-AU 4 165900915 165900915 single base substitution A T upstream_gene_variant MELA-AU 4 165901001 165901001 single base substitution C T upstream_gene_variant MELA-AU 4 165901126 165901126 single base substitution C T upstream_gene_variant MELA-AU 4 165901196 165901196 single base substitution G A upstream_gene_variant MELA-AU 4 165901211 165901211 single base substitution C T upstream_gene_variant MELA-AU 4 165901217 165901217 single base substitution G A upstream_gene_variant MELA-AU 4 165901220 165901220 single base substitution G A upstream_gene_variant MELA-AU 4 165901281 165901281 single base substitution C T upstream_gene_variant MELA-AU 4 165901370 165901370 single base substitution G A upstream_gene_variant MELA-AU 4 165901390 165901390 single base substitution A T upstream_gene_variant MELA-AU 4 165901430 165901430 single base substitution C T upstream_gene_variant MELA-AU 4 165901431 165901431 single base substitution C T upstream_gene_variant MELA-AU 4 165901566 165901566 single base substitution C T upstream_gene_variant MELA-AU 4 165901605 165901605 single base substitution C T upstream_gene_variant MELA-AU 4 165901606 165901606 single base substitution C T upstream_gene_variant MELA-AU 4 165901665 165901665 single base substitution A G upstream_gene_variant MELA-AU 4 165902115 165902115 single base substitution A G upstream_gene_variant MELA-AU 4 165902173 165902173 single base substitution G A upstream_gene_variant MELA-AU 4 165902672 165902672 single base substitution C T upstream_gene_variant MELA-AU 4 165902796 165902796 single base substitution C T upstream_gene_variant MELA-AU 4 165902940 165902940 single base substitution A T upstream_gene_variant MELA-AU 4 165903081 165903081 single base substitution C T upstream_gene_variant MELA-AU 4 165903118 165903118 single base substitution C T upstream_gene_variant MELA-AU 4 165903311 165903311 single base substitution C T upstream_gene_variant MELA-AU 4 165903396 165903396 single base substitution G A upstream_gene_variant MELA-AU 4 165903647 165903647 single base substitution C T upstream_gene_variant MELA-AU 4 165903726 165903726 single base substitution C T upstream_gene_variant ORCA-IN 4 165884896 165884896 deletion of <=200bp C - intron_variant ORCA-IN 4 165884914 165884914 deletion of <=200bp G - intron_variant ORCA-IN 4 165894452 165894452 single base substitution C A intron_variant OV-AU 4 165872810 165872810 single base substitution A G downstream_gene_variant OV-AU 4 165879298 165879298 single base substitution A G intron_variant OV-AU 4 165887889 165887889 single base substitution A C intron_variant OV-AU 4 165892403 165892403 single base substitution G A intron_variant PACA-AU 4 165874155 165874155 single base substitution T C downstream_gene_variant PACA-AU 4 165875133 165875133 single base substitution C T downstream_gene_variant PACA-AU 4 165882342 165882342 single base substitution A G intron_variant PACA-AU 4 165882967 165882967 single base substitution C A intron_variant PACA-AU 4 165885927 165885927 single base substitution T C intron_variant PACA-AU 4 165886365 165886365 single base substitution G A intron_variant PACA-AU 4 165888172 165888172 single base substitution C T intron_variant PACA-AU 4 165889693 165889693 single base substitution G A intron_variant PACA-AU 4 165890575 165890575 single base substitution G A intron_variant PACA-AU 4 165893265 165893265 single base substitution A C intron_variant PACA-AU 4 165897409 165897409 single base substitution G A intron_variant PACA-AU 4 165897410 165897410 single base substitution A T intron_variant PACA-CA 4 165872209 165872209 single base substitution G T downstream_gene_variant PACA-CA 4 165872907 165872907 single base substitution G A downstream_gene_variant PACA-CA 4 165873256 165873256 single base substitution G A downstream_gene_variant PACA-CA 4 165874343 165874343 single base substitution A G downstream_gene_variant PACA-CA 4 165875249 165875249 single base substitution C T downstream_gene_variant PACA-CA 4 165876514 165876514 single base substitution T G intron_variant PACA-CA 4 165877129 165877129 single base substitution G A intron_variant PACA-CA 4 165878368 165878368 single base substitution C T intron_variant PACA-CA 4 165878507 165878507 single base substitution G T intron_variant PACA-CA 4 165879696 165879696 single base substitution C T intron_variant PACA-CA 4 165883779 165883779 single base substitution G A intron_variant PACA-CA 4 165884210 165884210 single base substitution T G intron_variant PACA-CA 4 165886664 165886664 single base substitution C T intron_variant PACA-CA 4 165888897 165888897 single base substitution A T intron_variant PACA-CA 4 165889908 165889908 single base substitution A G intron_variant PACA-CA 4 165892022 165892022 single base substitution C T intron_variant PACA-CA 4 165892698 165892698 single base substitution G A intron_variant PACA-CA 4 165895047 165895047 single base substitution C T intron_variant PACA-CA 4 165895753 165895753 single base substitution G A intron_variant PACA-CA 4 165895922 165895922 single base substitution C G intron_variant PACA-CA 4 165896306 165896306 single base substitution C A intron_variant PACA-CA 4 165897556 165897556 single base substitution C T intron_variant PACA-CA 4 165899554 165899554 single base substitution G A upstream_gene_variant PACA-CA 4 165899748 165899748 single base substitution C A upstream_gene_variant PACA-CA 4 165901607 165901607 single base substitution C T upstream_gene_variant PACA-CA 4 165903113 165903113 single base substitution C A upstream_gene_variant PACA-CA 4 165903738 165903738 single base substitution A T upstream_gene_variant PAEN-AU 4 165888801 165888801 single base substitution G T intron_variant PAEN-IT 4 165888631 165888631 single base substitution C A intron_variant PAEN-IT 4 165897688 165897688 single base substitution T C intron_variant PBCA-DE 4 165872155 165872155 single base substitution G C downstream_gene_variant PBCA-DE 4 165874120 165874120 single base substitution C T downstream_gene_variant PBCA-DE 4 165882746 165882746 single base substitution A G intron_variant PBCA-DE 4 165888085 165888085 insertion of <=200bp - A intron_variant PBCA-DE 4 165891279 165891279 insertion of <=200bp - A 5_prime_UTR_variant PBCA-DE 4 165896521 165896521 single base substitution G C intron_variant PBCA-DE 4 165896667 165896667 insertion of <=200bp - TG intron_variant PBCA-DE 4 165896960 165896960 single base substitution G T intron_variant PBCA-DE 4 165903035 165903035 single base substitution A T upstream_gene_variant PRAD-CA 4 165891583 165891583 single base substitution G T intron_variant PRAD-UK 4 165871465 165871465 single base substitution C T downstream_gene_variant PRAD-UK 4 165901760 165901760 single base substitution T C upstream_gene_variant PRAD-UK 4 165902903 165902903 single base substitution G A upstream_gene_variant RECA-EU 4 165877089 165877089 single base substitution A G intron_variant RECA-EU 4 165901008 165901008 single base substitution C T upstream_gene_variant RECA-EU 4 165903191 165903191 single base substitution G A upstream_gene_variant SKCA-BR 4 165871511 165871511 single base substitution G A downstream_gene_variant SKCA-BR 4 165871637 165871638 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 4 165872427 165872427 single base substitution A T downstream_gene_variant SKCA-BR 4 165872611 165872611 single base substitution G A downstream_gene_variant SKCA-BR 4 165872654 165872654 single base substitution T C downstream_gene_variant SKCA-BR 4 165872758 165872758 single base substitution C T downstream_gene_variant SKCA-BR 4 165872777 165872777 single base substitution G A downstream_gene_variant SKCA-BR 4 165876239 165876239 single base substitution G A missense_variant P179S 535C>T SKCA-BR 4 165876312 165876312 single base substitution A C intron_variant SKCA-BR 4 165876343 165876343 single base substitution C T intron_variant SKCA-BR 4 165876818 165876818 single base substitution C T intron_variant SKCA-BR 4 165877645 165877645 single base substitution C G intron_variant SKCA-BR 4 165878825 165878825 single base substitution T A intron_variant SKCA-BR 4 165879240 165879240 single base substitution T C intron_variant SKCA-BR 4 165879797 165879797 single base substitution G A intron_variant SKCA-BR 4 165880491 165880491 single base substitution C T intron_variant SKCA-BR 4 165881245 165881245 single base substitution G A intron_variant SKCA-BR 4 165881538 165881538 single base substitution T A intron_variant SKCA-BR 4 165882034 165882034 single base substitution C T intron_variant SKCA-BR 4 165884195 165884195 single base substitution A C intron_variant SKCA-BR 4 165884896 165884897 deletion of <=200bp CA - intron_variant SKCA-BR 4 165888186 165888186 single base substitution G A intron_variant SKCA-BR 4 165889179 165889179 single base substitution C T intron_variant SKCA-BR 4 165889738 165889738 single base substitution T C intron_variant SKCA-BR 4 165891027 165891027 single base substitution G A missense_variant S43F 128C>T SKCA-BR 4 165891035 165891035 single base substitution G A synonymous_variant I40I 120C>T SKCA-BR 4 165893016 165893016 single base substitution A T intron_variant SKCA-BR 4 165894568 165894568 single base substitution C T intron_variant SKCA-BR 4 165895196 165895196 single base substitution C T intron_variant SKCA-BR 4 165895451 165895451 single base substitution C T intron_variant SKCA-BR 4 165895571 165895571 single base substitution C T intron_variant SKCA-BR 4 165896369 165896369 single base substitution G A intron_variant SKCA-BR 4 165899267 165899267 single base substitution G A upstream_gene_variant SKCA-BR 4 165901044 165901044 single base substitution G A upstream_gene_variant SKCA-BR 4 165902549 165902549 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 4 165903092 165903092 single base substitution C T upstream_gene_variant SKCA-BR 4 165903571 165903571 single base substitution T G upstream_gene_variant SKCM-US 4 165878301 165878301 single base substitution C T intron_variant SKCM-US 4 165890966 165890966 single base substitution C T synonymous_variant R63R 189G>A SKCM-US 4 165890967 165890967 single base substitution C T missense_variant R63K 188G>A SKCM-US 4 165890999 165890999 single base substitution G A synonymous_variant P52P 156C>T SKCM-US 4 165891000 165891000 single base substitution G A missense_variant P52L 155C>T SKCM-US 4 165891010 165891010 single base substitution C T missense_variant D49N 145G>A SKCM-US 4 165891019 165891019 single base substitution C T missense_variant D46N 136G>A STAD-US 4 165890990 165890990 single base substitution A C missense_variant F55L 165T>G STAD-US 4 165891030 165891030 single base substitution A G missense_variant M42T 125T>C STAD-US 4 165891048 165891048 single base substitution C T missense_variant C36Y 107G>A THCA-SA 4 165878170 165878170 single base substitution A G intron_variant THCA-SA 4 165878335 165878335 single base substitution A G intron_variant UCEC-US 4 165878411 165878411 single base substitution G T intron_variant UCEC-US 4 165878494 165878494 single base substitution C T intron_variant UCEC-US 4 165878634 165878634 single base substitution T C intron_variant UCEC-US 4 165890660 165890660 single base substitution T C synonymous_variant Q165Q 495A>G UCEC-US 4 165891119 165891119 single base substitution T C synonymous_variant A12A 36A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T578 COSM3335426 c.32G>A p.R11Q Substitution - Missense 4:164969971-164969971 - TCGA-AX-A1C7-01 COSM1052907 c.36A>G p.A12A Substitution - coding silent 4:164969967-164969967 - TCGA-EE-A3J8-06 COSM106387 c.155C>T p.P52L Substitution - Missense 4:164969848-164969848 - 259 COSM3732591 c.101A>C p.N34T Substitution - Missense 4:164969902-164969902 - ME049T COSM230046 c.274G>A p.E92K Substitution - Missense 4:164969729-164969729 - TCGA-FS-A1ZQ-06 COSM3601660 c.145G>A p.D49N Substitution - Missense 4:164969858-164969858 - HCC058T COSM5805031 c.235A>T p.K79* Substitution - Nonsense 4:164969768-164969768 - TCGA-HU-A4H3-01 COSM4123284 c.107G>A p.C36Y Substitution - Missense 4:164969896-164969896 - TCGA-ER-A193-06 COSM3601661 c.136G>A p.D46N Substitution - Missense 4:164969867-164969867 - LUAD-S01302 COSM396074 c.384C>T p.H128H Substitution - coding silent 4:164969619-164969619 - TCGA-JX-A3Q0-01 COSM4824113 c.294G>C p.K98N Substitution - Missense 4:164969709-164969709 - TCGA-FW-A3R5-06 COSM3601661 c.136G>A p.D46N Substitution - Missense 4:164969867-164969867 - TCGA-HU-A4GH-01 COSM4123282 c.165T>G p.F55L Substitution - Missense 4:164969838-164969838 - TCGA-D8-A1Y3-01 COSM1485818 c.252A>G p.R84R Substitution - coding silent 4:164969751-164969751 - HCC03T COSM131330 c.347G>A p.C116Y Substitution - Missense 4:164969656-164969656 - TCGA-BR-8680-01 COSM4123283 c.125T>C p.M42T Substitution - Missense 4:164969878-164969878 - TCGA-ER-A19G-06 COSM3601659 c.156C>T p.P52P Substitution - coding silent 4:164969847-164969847 - sysucc-311T COSM5466093 c.294G>T p.K98N Substitution - Missense 4:164969709-164969709 - TCGA-Q1-A6DW-01 COSM4824113 c.294G>C p.K98N Substitution - Missense 4:164969709-164969709 - T3503 COSM4736197 c.47G>A p.C16Y Substitution - Missense 4:164969956-164969956 - TCGA-FW-A3R5-06 COSM3917394 c.188G>A p.R63K Substitution - Missense 4:164969815-164969815 - 18T COSM106387 c.155C>T p.P52L Substitution - Missense 4:164969848-164969848 - TCGA-EE-A3AE-06 COSM3601658 c.189G>A p.R63R Substitution - coding silent 4:164969814-164969814 - SJHGG024_D COSM4969509 c.589C>T p.R197C Substitution - Missense 4:164955033-164955033 - TCGA-BS-A0UF-01 COSM1052906 c.495A>G p.Q165Q Substitution - coding silent 4:164969508-164969508 - T578 COSM4736196 c.194T>G p.F65C Substitution - Missense 4:164969809-164969809 - I2L-P7-Tumor-Organoid COSM5356159 c.172T>G p.F58V Substitution - Missense 4:164969831-164969831 - ESO-0019 COSM1268566 c.103T>G p.F35V Substitution - Missense 4:164969900-164969900 - pfg143T COSM4748064 c.462_463delAG p.R154fs*5 Deletion - Frameshift 4:164969540-164969541 - HN_62897 COSM129906 c.113C>T p.S38F Substitution - Missense 4:164969890-164969890 - TCGA-B0-5097-01 COSM481030 c.96G>C p.G32G Substitution - coding silent 4:164969907-164969907 - 2497767 COSM3335417 c.206C>T p.P69L Substitution - Missense 4:164969797-164969797 - Pat_66_A COSM3601661 c.136G>A p.D46N Substitution - Missense 4:164969867-164969867 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654631;Hs.654633 4q32.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F35V c.103T>G 4 165891052 ESCA C T Missense p.D46N c.136G>A 4 165891019 CM C T Missense p.D49N c.145G>A 4 165891010 CM C T Synonymous p.R63R c.189G>A 4 165890966 CM G A Missense p.P52L c.155C>T 4 165891000 CM G A Missense p.S38F c.113C>T 4 165891042 HNSC G A Missense p.T5M c.14C>T 4 165891141 BRCA G A Synonymous p.D21D c.63C>T 4 165891092 CM G A Synonymous p.P52P c.156C>T 4 165890999 CM G A Synonymous p.S38S c.114C>T 4 165891041 CM T C Synonymous p.A12A c.36A>G 4 165891119 UCEC T C Synonymous p.R84R c.252A>G 4 165890903 BRCA