Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 228670332 228670332 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 228671318 228671318 single base substitution C T upstream_gene_variant BRCA-EU 1 228671652 228671652 single base substitution T C upstream_gene_variant BRCA-EU 1 228672950 228672950 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 228673482 228673482 single base substitution A T upstream_gene_variant BRCA-EU 1 228673559 228673559 single base substitution C T upstream_gene_variant BRCA-EU 1 228674275 228674275 single base substitution C T upstream_gene_variant BRCA-EU 1 228675024 228675024 single base substitution C T 5_prime_UTR_variant BRCA-EU 1 228675024 228675024 single base substitution C T upstream_gene_variant BRCA-EU 1 228676907 228676907 deletion of <=200bp T - intron_variant BRCA-EU 1 228676907 228676907 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 228677503 228677503 single base substitution C T intron_variant BRCA-EU 1 228677503 228677503 single base substitution C T upstream_gene_variant BRCA-EU 1 228677977 228677977 single base substitution C T intron_variant BRCA-EU 1 228677977 228677977 single base substitution C T upstream_gene_variant BRCA-EU 1 228678711 228678711 single base substitution G T intron_variant BRCA-EU 1 228678711 228678711 single base substitution G T upstream_gene_variant BRCA-EU 1 228678756 228678756 single base substitution A G intron_variant BRCA-EU 1 228678756 228678756 single base substitution A G upstream_gene_variant BRCA-EU 1 228678990 228678990 single base substitution G A intron_variant BRCA-EU 1 228678990 228678990 single base substitution G A upstream_gene_variant BRCA-EU 1 228679258 228679258 single base substitution C A intron_variant BRCA-EU 1 228679258 228679258 single base substitution C A upstream_gene_variant BRCA-EU 1 228680303 228680303 single base substitution G C intron_variant BRCA-EU 1 228680303 228680303 single base substitution G C upstream_gene_variant BRCA-EU 1 228680960 228680960 single base substitution C G exon_variant BRCA-EU 1 228680960 228680960 single base substitution C G synonymous_variant L121L 363C>G BRCA-EU 1 228681502 228681502 single base substitution C G intron_variant BRCA-EU 1 228681556 228681556 single base substitution C T intron_variant BRCA-EU 1 228682419 228682419 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 228682419 228682419 single base substitution G A downstream_gene_variant BRCA-EU 1 228682419 228682419 single base substitution G A exon_variant BRCA-EU 1 228683673 228683673 single base substitution C G downstream_gene_variant BRCA-EU 1 228683799 228683799 single base substitution C T downstream_gene_variant BRCA-EU 1 228683959 228683959 single base substitution T A downstream_gene_variant BRCA-EU 1 228684128 228684128 single base substitution G T downstream_gene_variant BRCA-EU 1 228684828 228684828 single base substitution C G downstream_gene_variant BRCA-EU 1 228685285 228685285 single base substitution C T downstream_gene_variant BRCA-EU 1 228685702 228685702 single base substitution C T downstream_gene_variant BRCA-EU 1 228685793 228685793 single base substitution C T downstream_gene_variant BRCA-EU 1 228686372 228686372 single base substitution G T downstream_gene_variant BRCA-EU 1 228687861 228687861 single base substitution A G downstream_gene_variant BRCA-EU 1 228688358 228688358 single base substitution C A downstream_gene_variant BRCA-FR 1 228680303 228680303 single base substitution G C intron_variant BRCA-FR 1 228680303 228680303 single base substitution G C upstream_gene_variant BRCA-FR 1 228682259 228682259 single base substitution C G 3_prime_UTR_variant BRCA-FR 1 228682259 228682259 single base substitution C G downstream_gene_variant BRCA-FR 1 228682259 228682259 single base substitution C G exon_variant BRCA-FR 1 228682259 228682259 single base substitution C G intron_variant BRCA-FR 1 228683799 228683799 single base substitution C T downstream_gene_variant BRCA-UK 1 228673559 228673559 single base substitution C T upstream_gene_variant BRCA-UK 1 228687861 228687861 single base substitution A G downstream_gene_variant BRCA-US 1 228681782 228681782 single base substitution G A 3_prime_UTR_variant BRCA-US 1 228681782 228681782 single base substitution G A exon_variant BRCA-US 1 228681782 228681782 single base substitution G A intron_variant CLLE-ES 1 228669953 228669953 single base substitution C A upstream_gene_variant COCA-CN 1 228676824 228676824 single base substitution C T intron_variant COCA-CN 1 228676824 228676824 single base substitution C T upstream_gene_variant COCA-CN 1 228680789 228680789 single base substitution C T exon_variant COCA-CN 1 228680789 228680789 single base substitution C T synonymous_variant T64T 192C>T COCA-CN 1 228680789 228680789 single base substitution C T upstream_gene_variant COCA-CN 1 228681260 228681260 single base substitution C T intron_variant COCA-CN 1 228681608 228681608 single base substitution C T 3_prime_UTR_variant COCA-CN 1 228681608 228681608 single base substitution C T exon_variant COCA-CN 1 228681608 228681608 single base substitution C T intron_variant COCA-CN 1 228681749 228681749 single base substitution C T 3_prime_UTR_variant COCA-CN 1 228681749 228681749 single base substitution C T exon_variant COCA-CN 1 228681749 228681749 single base substitution C T intron_variant EOPC-DE 1 228681552 228681552 single base substitution C T intron_variant ESAD-UK 1 228669930 228669930 insertion of <=200bp - AAAC upstream_gene_variant ESAD-UK 1 228671673 228671674 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 1 228672313 228672313 insertion of <=200bp - T upstream_gene_variant ESAD-UK 1 228672930 228672930 single base substitution C G upstream_gene_variant ESAD-UK 1 228673478 228673478 deletion of <=200bp A - upstream_gene_variant ESAD-UK 1 228676390 228676391 deletion of <=200bp CA - intron_variant ESAD-UK 1 228676390 228676391 deletion of <=200bp CA - upstream_gene_variant ESAD-UK 1 228685811 228685811 single base substitution G T downstream_gene_variant ESAD-UK 1 228686607 228686607 single base substitution G A downstream_gene_variant ESCA-CN 1 228680930 228680930 single base substitution G A exon_variant ESCA-CN 1 228680930 228680930 single base substitution G A synonymous_variant E111E 333G>A ESCA-CN 1 228680930 228680930 single base substitution G A upstream_gene_variant LICA-CN 1 228680783 228680783 single base substitution A G exon_variant LICA-CN 1 228680783 228680783 single base substitution A G synonymous_variant A62A 186A>G LICA-CN 1 228680783 228680783 single base substitution A G upstream_gene_variant LICA-FR 1 228670798 228670798 single base substitution G T upstream_gene_variant LICA-FR 1 228678116 228678116 single base substitution A G intron_variant LICA-FR 1 228678116 228678116 single base substitution A G upstream_gene_variant LINC-JP 1 228676824 228676824 single base substitution C T intron_variant LINC-JP 1 228676824 228676824 single base substitution C T upstream_gene_variant LINC-JP 1 228678900 228678900 single base substitution G A intron_variant LINC-JP 1 228678900 228678900 single base substitution G A upstream_gene_variant LINC-JP 1 228680820 228680820 single base substitution G C exon_variant LINC-JP 1 228680820 228680820 single base substitution G C missense_variant E75Q 223G>C LINC-JP 1 228680820 228680820 single base substitution G C upstream_gene_variant LIRI-JP 1 228673288 228673288 single base substitution T C upstream_gene_variant LIRI-JP 1 228673390 228673390 single base substitution C G upstream_gene_variant LIRI-JP 1 228673777 228673777 single base substitution G A upstream_gene_variant LIRI-JP 1 228674748 228674748 single base substitution C G upstream_gene_variant LIRI-JP 1 228677190 228677190 single base substitution G A intron_variant LIRI-JP 1 228677190 228677190 single base substitution G A upstream_gene_variant LIRI-JP 1 228678407 228678407 single base substitution A G intron_variant LIRI-JP 1 228678407 228678407 single base substitution A G upstream_gene_variant LIRI-JP 1 228680041 228680041 single base substitution G A intron_variant LIRI-JP 1 228680041 228680041 single base substitution G A upstream_gene_variant LIRI-JP 1 228685012 228685012 single base substitution C T downstream_gene_variant LIRI-JP 1 228687993 228687993 single base substitution C G downstream_gene_variant LUSC-KR 1 228670376 228670376 single base substitution C A upstream_gene_variant LUSC-KR 1 228671801 228671801 single base substitution A C upstream_gene_variant LUSC-KR 1 228672307 228672307 single base substitution C G upstream_gene_variant LUSC-KR 1 228672848 228672848 single base substitution G T upstream_gene_variant LUSC-KR 1 228674813 228674813 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 228674813 228674813 single base substitution G A upstream_gene_variant LUSC-KR 1 228677106 228677106 single base substitution C G intron_variant LUSC-KR 1 228677106 228677106 single base substitution C G upstream_gene_variant MALY-DE 1 228669930 228669937 deletion of <=200bp AAACAAAC - upstream_gene_variant MALY-DE 1 228682314 228682314 single base substitution C T 3_prime_UTR_variant MALY-DE 1 228682314 228682314 single base substitution C T downstream_gene_variant MALY-DE 1 228682314 228682314 single base substitution C T exon_variant MALY-DE 1 228683281 228683281 single base substitution G A 3_prime_UTR_variant MALY-DE 1 228683281 228683281 single base substitution G A downstream_gene_variant MALY-DE 1 228683281 228683281 single base substitution G A exon_variant MELA-AU 1 228669849 228669849 single base substitution G A upstream_gene_variant MELA-AU 1 228669990 228669990 single base substitution C A upstream_gene_variant MELA-AU 1 228670039 228670039 single base substitution G A upstream_gene_variant MELA-AU 1 228670447 228670447 single base substitution C T upstream_gene_variant MELA-AU 1 228670467 228670467 single base substitution G A upstream_gene_variant MELA-AU 1 228670688 228670688 single base substitution G A upstream_gene_variant MELA-AU 1 228670788 228670788 single base substitution G A upstream_gene_variant MELA-AU 1 228671225 228671225 single base substitution T C upstream_gene_variant MELA-AU 1 228671261 228671262 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 1 228671449 228671449 single base substitution A C upstream_gene_variant MELA-AU 1 228671452 228671452 single base substitution G A upstream_gene_variant MELA-AU 1 228671784 228671784 single base substitution C T upstream_gene_variant MELA-AU 1 228671876 228671876 single base substitution C T upstream_gene_variant MELA-AU 1 228671894 228671894 single base substitution G A upstream_gene_variant MELA-AU 1 228672184 228672184 single base substitution C T upstream_gene_variant MELA-AU 1 228672303 228672303 single base substitution G A upstream_gene_variant MELA-AU 1 228674222 228674222 single base substitution G A upstream_gene_variant MELA-AU 1 228675054 228675054 single base substitution C T 5_prime_UTR_variant MELA-AU 1 228675054 228675054 single base substitution C T upstream_gene_variant MELA-AU 1 228676074 228676074 single base substitution C T exon_variant MELA-AU 1 228676074 228676074 single base substitution C T intron_variant MELA-AU 1 228676074 228676074 single base substitution C T upstream_gene_variant MELA-AU 1 228677227 228677227 single base substitution C T intron_variant MELA-AU 1 228677227 228677227 single base substitution C T upstream_gene_variant MELA-AU 1 228677677 228677677 single base substitution C T intron_variant MELA-AU 1 228677677 228677677 single base substitution C T upstream_gene_variant MELA-AU 1 228678132 228678132 single base substitution C T intron_variant MELA-AU 1 228678132 228678132 single base substitution C T upstream_gene_variant MELA-AU 1 228678213 228678213 single base substitution C T intron_variant MELA-AU 1 228678213 228678213 single base substitution C T upstream_gene_variant MELA-AU 1 228678946 228678946 single base substitution C T intron_variant MELA-AU 1 228678946 228678946 single base substitution C T upstream_gene_variant MELA-AU 1 228680226 228680226 single base substitution T C intron_variant MELA-AU 1 228680226 228680226 single base substitution T C upstream_gene_variant MELA-AU 1 228680368 228680368 single base substitution C T intron_variant MELA-AU 1 228680368 228680368 single base substitution C T upstream_gene_variant MELA-AU 1 228680787 228680787 single base substitution A C exon_variant MELA-AU 1 228680787 228680787 single base substitution A C missense_variant T64P 190A>C MELA-AU 1 228680787 228680787 single base substitution A C upstream_gene_variant MELA-AU 1 228680867 228680867 single base substitution C T exon_variant MELA-AU 1 228680867 228680867 single base substitution C T synonymous_variant L90L 270C>T MELA-AU 1 228680867 228680867 single base substitution C T upstream_gene_variant MELA-AU 1 228680878 228680878 single base substitution A G exon_variant MELA-AU 1 228680878 228680878 single base substitution A G missense_variant E94G 281A>G MELA-AU 1 228680878 228680878 single base substitution A G upstream_gene_variant MELA-AU 1 228681118 228681118 single base substitution C T intron_variant MELA-AU 1 228681673 228681673 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228681673 228681673 single base substitution G A exon_variant MELA-AU 1 228681673 228681673 single base substitution G A intron_variant MELA-AU 1 228681855 228681855 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228681855 228681855 single base substitution C T exon_variant MELA-AU 1 228681855 228681855 single base substitution C T intron_variant MELA-AU 1 228681913 228681913 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228681913 228681913 single base substitution C T exon_variant MELA-AU 1 228681913 228681913 single base substitution C T intron_variant MELA-AU 1 228682041 228682041 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682041 228682041 single base substitution C T downstream_gene_variant MELA-AU 1 228682041 228682041 single base substitution C T exon_variant MELA-AU 1 228682041 228682041 single base substitution C T intron_variant MELA-AU 1 228682199 228682199 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682199 228682199 single base substitution C T downstream_gene_variant MELA-AU 1 228682199 228682199 single base substitution C T exon_variant MELA-AU 1 228682199 228682199 single base substitution C T intron_variant MELA-AU 1 228682272 228682272 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682272 228682272 single base substitution C T downstream_gene_variant MELA-AU 1 228682272 228682272 single base substitution C T exon_variant MELA-AU 1 228682272 228682272 single base substitution C T intron_variant MELA-AU 1 228682377 228682377 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682377 228682377 single base substitution C T downstream_gene_variant MELA-AU 1 228682377 228682377 single base substitution C T exon_variant MELA-AU 1 228682558 228682558 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682558 228682558 single base substitution C T downstream_gene_variant MELA-AU 1 228682558 228682558 single base substitution C T exon_variant MELA-AU 1 228682970 228682970 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228682970 228682970 single base substitution C T downstream_gene_variant MELA-AU 1 228682970 228682970 single base substitution C T exon_variant MELA-AU 1 228683027 228683027 single base substitution C T 3_prime_UTR_variant MELA-AU 1 228683027 228683027 single base substitution C T downstream_gene_variant MELA-AU 1 228683027 228683027 single base substitution C T exon_variant MELA-AU 1 228683138 228683138 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228683138 228683138 single base substitution G A downstream_gene_variant MELA-AU 1 228683138 228683138 single base substitution G A exon_variant MELA-AU 1 228683636 228683636 single base substitution C T downstream_gene_variant MELA-AU 1 228683705 228683705 single base substitution G A downstream_gene_variant MELA-AU 1 228683867 228683867 single base substitution T A downstream_gene_variant MELA-AU 1 228685439 228685439 single base substitution G A downstream_gene_variant MELA-AU 1 228685532 228685532 single base substitution T G downstream_gene_variant MELA-AU 1 228685696 228685696 single base substitution C T downstream_gene_variant MELA-AU 1 228685919 228685919 single base substitution C T downstream_gene_variant MELA-AU 1 228685961 228685961 single base substitution C T downstream_gene_variant MELA-AU 1 228686181 228686181 single base substitution C T downstream_gene_variant MELA-AU 1 228686193 228686193 single base substitution C T downstream_gene_variant MELA-AU 1 228687667 228687667 single base substitution T G downstream_gene_variant MELA-AU 1 228687942 228687942 single base substitution T A downstream_gene_variant MELA-AU 1 228688086 228688086 single base substitution C T downstream_gene_variant MELA-AU 1 228688226 228688226 single base substitution C T downstream_gene_variant ORCA-IN 1 228674259 228674259 single base substitution T A upstream_gene_variant ORCA-IN 1 228676753 228676753 single base substitution G T exon_variant ORCA-IN 1 228676753 228676753 single base substitution G T missense_variant K52N 156G>T ORCA-IN 1 228676753 228676753 single base substitution G T splice_region_variant ORCA-IN 1 228676753 228676753 single base substitution G T upstream_gene_variant OV-AU 1 228671886 228671886 single base substitution G T upstream_gene_variant OV-AU 1 228674367 228674367 single base substitution G A upstream_gene_variant OV-AU 1 228675574 228675574 single base substitution G A missense_variant G20S 58G>A OV-AU 1 228675574 228675574 single base substitution G A upstream_gene_variant OV-AU 1 228679678 228679678 single base substitution T C intron_variant OV-AU 1 228679678 228679678 single base substitution T C upstream_gene_variant OV-AU 1 228685130 228685130 single base substitution C T downstream_gene_variant OV-AU 1 228685631 228685631 single base substitution G A downstream_gene_variant PACA-AU 1 228671683 228671683 single base substitution T C upstream_gene_variant PACA-AU 1 228675180 228675180 single base substitution G A 5_prime_UTR_variant PACA-AU 1 228675180 228675180 single base substitution G A upstream_gene_variant PACA-AU 1 228678265 228678265 single base substitution C T intron_variant PACA-AU 1 228678265 228678265 single base substitution C T upstream_gene_variant PACA-AU 1 228679769 228679769 single base substitution T A intron_variant PACA-AU 1 228679769 228679769 single base substitution T A upstream_gene_variant PACA-AU 1 228685358 228685358 single base substitution G A downstream_gene_variant PACA-AU 1 228688440 228688441 deletion of <=200bp GA - downstream_gene_variant PACA-CA 1 228673482 228673482 single base substitution A T upstream_gene_variant PACA-CA 1 228673483 228673483 single base substitution T A upstream_gene_variant PACA-CA 1 228673728 228673728 single base substitution G A upstream_gene_variant PACA-CA 1 228677268 228677268 insertion of <=200bp - A intron_variant PACA-CA 1 228677268 228677268 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 228677629 228677629 single base substitution G A intron_variant PACA-CA 1 228677629 228677629 single base substitution G A upstream_gene_variant PACA-CA 1 228681626 228681626 single base substitution G A 3_prime_UTR_variant PACA-CA 1 228681626 228681626 single base substitution G A exon_variant PACA-CA 1 228681626 228681626 single base substitution G A intron_variant PACA-CA 1 228686176 228686176 single base substitution G A downstream_gene_variant PAEN-AU 1 228674148 228674148 single base substitution T G upstream_gene_variant PBCA-DE 1 228671814 228671814 single base substitution A C upstream_gene_variant PBCA-DE 1 228673483 228673483 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 228677015 228677015 insertion of <=200bp - T intron_variant PBCA-DE 1 228677015 228677015 insertion of <=200bp - T upstream_gene_variant PBCA-DE 1 228680960 228680960 single base substitution C T exon_variant PBCA-DE 1 228680960 228680960 single base substitution C T synonymous_variant L121L 363C>T PRAD-UK 1 228674768 228674784 deletion of <=200bp GCAGTAGAGTGAAGCGC - 5_prime_UTR_variant PRAD-UK 1 228674768 228674784 deletion of <=200bp GCAGTAGAGTGAAGCGC - upstream_gene_variant PRAD-UK 1 228675034 228675056 deletion of <=200bp GACCCCGCCCCGTGCGCGTCCCC - 5_prime_UTR_variant PRAD-UK 1 228675034 228675056 deletion of <=200bp GACCCCGCCCCGTGCGCGTCCCC - upstream_gene_variant RECA-EU 1 228676010 228676010 single base substitution C A exon_variant RECA-EU 1 228676010 228676010 single base substitution C A intron_variant RECA-EU 1 228676010 228676010 single base substitution C A upstream_gene_variant RECA-EU 1 228680734 228680734 single base substitution T C intron_variant RECA-EU 1 228680734 228680734 single base substitution T C upstream_gene_variant RECA-EU 1 228685220 228685220 single base substitution C A downstream_gene_variant SKCA-BR 1 228678148 228678148 single base substitution C T intron_variant SKCA-BR 1 228678148 228678148 single base substitution C T upstream_gene_variant SKCA-BR 1 228679111 228679111 single base substitution T A intron_variant SKCA-BR 1 228679111 228679111 single base substitution T A upstream_gene_variant SKCA-BR 1 228681195 228681195 single base substitution C T intron_variant SKCA-BR 1 228682749 228682749 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 228682749 228682749 single base substitution C T downstream_gene_variant SKCA-BR 1 228682749 228682749 single base substitution C T exon_variant SKCA-BR 1 228685761 228685761 single base substitution C T downstream_gene_variant SKCA-BR 1 228685842 228685842 single base substitution T G downstream_gene_variant SKCA-BR 1 228687996 228687996 single base substitution A C downstream_gene_variant SKCA-BR 1 228688114 228688114 single base substitution T G downstream_gene_variant SKCA-BR 1 228688123 228688123 single base substitution C T downstream_gene_variant SKCA-BR 1 228688177 228688177 single base substitution A T downstream_gene_variant UCEC-US 1 228680759 228680759 single base substitution C T exon_variant UCEC-US 1 228680759 228680759 single base substitution C T synonymous_variant H54H 162C>T UCEC-US 1 228680759 228680759 single base substitution C T upstream_gene_variant UCEC-US 1 228680921 228680921 single base substitution G A exon_variant UCEC-US 1 228680921 228680921 single base substitution G A synonymous_variant A108A 324G>A UCEC-US 1 228680921 228680921 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-54-T COSM4554250 c.289G>A p.D97N Substitution - Missense 1:228493185-228493185 + TCGA-AP-A0LM-01 COSM905197 c.162C>T p.H54H Substitution - coding silent 1:228493058-228493058 + HCT15 COSM4632616 c.173G>A p.R58H Substitution - Missense 1:228493069-228493069 + SNU-C2B COSM4651144 c.350G>A p.R117H Substitution - Missense 1:228493246-228493246 + sysucc-1317T COSM5448452 c.192C>T p.T64T Substitution - coding silent 1:228493088-228493088 + TCGA-B5-A11E-01 COSM905198 c.324G>A p.A108A Substitution - coding silent 1:228493220-228493220 + LUAD-5V8LT COSM400969 c.198C>T p.Y66Y Substitution - coding silent 1:228493094-228493094 + OSCC-GB_00310111 COSM3711265 c.156G>T p.K52N Substitution - Missense 1:228489052-228489052 + AOCS-113-1-5 COSM3943557 c.58G>A p.G20S Substitution - Missense 1:228487873-228487873 + HCC008T COSM5807408 c.186A>G p.A62A Substitution - coding silent 1:228493082-228493082 + S00938 COSM5663162 c.329C>T p.S110L Substitution - Missense 1:228493225-228493225 + CSCC-49-T COSM4500510 c.240C>T p.F80F Substitution - coding silent 1:228493136-228493136 + 31T COSM3711265 c.156G>T p.K52N Substitution - Missense 1:228489052-228489052 + HX27T COSM3705612 c.223G>C p.E75Q Substitution - Missense 1:228493119-228493119 + PD14453a COSM5794801 c.363C>G p.L121L Substitution - coding silent 1:228493259-228493259 + Gp5D COSM4233273 c.108C>T p.D36D Substitution - coding silent 1:228489004-228489004 + 587278 COSM1223948 c.302G>A p.R101Q Substitution - Missense 1:228493198-228493198 + ESCC-129T COSM3934543 c.333G>A p.E111E Substitution - coding silent 1:228493229-228493229 + GC8_T COSM146812 c.117C>T p.D39D Substitution - coding silent 1:228489013-228489013 + PTC-88C COSM4143487 c.54G>C p.L18L Substitution - coding silent 1:228487869-228487869 + PTC-28C COSM4143487 c.54G>C p.L18L Substitution - coding silent 1:228487869-228487869 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.356368;Hs.356377 1q42.13 613754

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T 3-UTRSNV . c.378+1339C>T 1 228682314 DLBCL