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 COAD 21 46207992 46207992 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:46207992G>A c.62C>T c.(61-63)cCg>cTg p.P21L COADREAD 21 46207991 46207991 + Silent SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr21:46207991C>A c.63G>T c.(61-63)ccG>ccT p.P21P COADREAD 21 46207992 46207992 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr21:46207992G>A c.62C>T c.(61-63)cCg>cTg p.P21L ESCA 21 46207977 46207977 + Missense_Mutation SNP G G T TCGA-S8-A6BW-01A-11D-A31U-09 TCGA-S8-A6BW-10A-01D-A31U-09 g.chr21:46207977G>T c.77C>A c.(76-78)gCa>gAa p.A26E GBMLGG 21 46207992 46207992 + Missense_Mutation SNP G G A TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr21:46207992G>A c.62C>T c.(61-63)cCg>cTg p.P21L HNSC 21 46193489 46193489 + Silent SNP G G A TCGA-CR-6492-01A-12D-2078-08 TCGA-CR-6492-10A-01D-2078-08 g.chr21:46193489G>A c.358C>T c.(358-360)Ctg>Ttg p.L120L LGG 21 46207992 46207992 + Missense_Mutation SNP G G A TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr21:46207992G>A c.62C>T c.(61-63)cCg>cTg p.P21L LUAD 21 46191316 46191316 + Silent SNP G G A TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr21:46191316G>A c.474C>T c.(472-474)atC>atT p.I158I LUAD 21 46197310 46197310 + Missense_Mutation SNP C C G TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr21:46197310C>G c.148G>C c.(148-150)Gag>Cag p.E50Q LUSC 21 46191303 46191303 + Missense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr21:46191303G>C c.487C>G c.(487-489)Ctg>Gtg p.L163V PAAD 21 46191357 46191357 + Missense_Mutation SNP G G A TCGA-FB-AAQ3-01A-11D-A40W-08 TCGA-FB-AAQ3-11A-11D-A40W-08 g.chr21:46191357G>A c.433C>T c.(433-435)Cgc>Tgc p.R145C READ 21 46207991 46207991 + Silent SNP C C A TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr21:46207991C>A c.63G>T c.(61-63)ccG>ccT p.P21P SARC 21 46193533 46193533 + Missense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 g.chr21:46193533C>T c.314G>A c.(313-315)aGc>aAc p.S105N SKCM 21 46197277 46197277 + Missense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr21:46197277G>A c.181C>T c.(181-183)Cca>Tca p.P61S

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 21 46184165 46184165 single base substitution C G downstream_gene_variant BRCA-EU 21 46185868 46185868 single base substitution C G downstream_gene_variant BRCA-EU 21 46186982 46186982 single base substitution G A downstream_gene_variant BRCA-EU 21 46190183 46190183 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 21 46190183 46190183 insertion of <=200bp - T downstream_gene_variant BRCA-EU 21 46190183 46190183 insertion of <=200bp - T exon_variant BRCA-EU 21 46191316 46191316 single base substitution G A 3_prime_UTR_variant BRCA-EU 21 46191316 46191316 single base substitution G A downstream_gene_variant BRCA-EU 21 46191316 46191316 single base substitution G A exon_variant BRCA-EU 21 46191316 46191316 single base substitution G A synonymous_variant I130I 390C>T BRCA-EU 21 46191316 46191316 single base substitution G A synonymous_variant I158I 474C>T BRCA-EU 21 46191809 46191809 single base substitution C G downstream_gene_variant BRCA-EU 21 46191809 46191809 single base substitution C G intron_variant BRCA-EU 21 46192460 46192460 single base substitution G A downstream_gene_variant BRCA-EU 21 46192460 46192460 single base substitution G A intron_variant BRCA-EU 21 46192821 46192821 single base substitution C T downstream_gene_variant BRCA-EU 21 46192821 46192821 single base substitution C T intron_variant BRCA-EU 21 46192987 46192987 single base substitution A G downstream_gene_variant BRCA-EU 21 46192987 46192987 single base substitution A G intron_variant BRCA-EU 21 46193647 46193647 single base substitution G A downstream_gene_variant BRCA-EU 21 46193647 46193647 single base substitution G A exon_variant BRCA-EU 21 46193647 46193647 single base substitution G A intron_variant BRCA-EU 21 46194034 46194034 single base substitution T A downstream_gene_variant BRCA-EU 21 46194034 46194034 single base substitution T A exon_variant BRCA-EU 21 46194034 46194034 single base substitution T A intron_variant BRCA-EU 21 46194271 46194271 single base substitution C T downstream_gene_variant BRCA-EU 21 46194271 46194271 single base substitution C T exon_variant BRCA-EU 21 46194271 46194271 single base substitution C T intron_variant BRCA-EU 21 46196039 46196039 insertion of <=200bp - G downstream_gene_variant BRCA-EU 21 46196039 46196039 insertion of <=200bp - G intron_variant BRCA-EU 21 46196039 46196039 insertion of <=200bp - G upstream_gene_variant BRCA-EU 21 46197365 46197365 single base substitution A G intron_variant BRCA-EU 21 46197365 46197365 single base substitution A G upstream_gene_variant BRCA-EU 21 46198940 46198940 single base substitution C T intron_variant BRCA-EU 21 46198940 46198940 single base substitution C T upstream_gene_variant BRCA-EU 21 46199189 46199189 single base substitution T A intron_variant BRCA-EU 21 46199189 46199189 single base substitution T A upstream_gene_variant BRCA-EU 21 46202259 46202259 single base substitution G C intron_variant BRCA-EU 21 46202871 46202871 single base substitution G C intron_variant BRCA-EU 21 46205369 46205369 single base substitution G C intron_variant BRCA-EU 21 46206435 46206435 single base substitution T C intron_variant BRCA-EU 21 46206941 46206941 single base substitution G A intron_variant BRCA-EU 21 46207643 46207643 single base substitution C G intron_variant BRCA-EU 21 46208764 46208764 single base substitution G T intron_variant BRCA-EU 21 46209145 46209145 single base substitution G T intron_variant BRCA-EU 21 46210235 46210235 single base substitution G T intron_variant BRCA-EU 21 46211893 46211893 single base substitution T C intron_variant BRCA-EU 21 46214327 46214327 single base substitution A G intron_variant BRCA-EU 21 46215367 46215367 single base substitution C T downstream_gene_variant BRCA-EU 21 46215367 46215367 single base substitution C T intron_variant BRCA-EU 21 46216442 46216442 single base substitution C A downstream_gene_variant BRCA-EU 21 46216442 46216442 single base substitution C A intron_variant BRCA-EU 21 46218089 46218092 deletion of <=200bp TAAT - downstream_gene_variant BRCA-EU 21 46218089 46218092 deletion of <=200bp TAAT - intron_variant BRCA-EU 21 46218092 46218092 single base substitution T A downstream_gene_variant BRCA-EU 21 46218092 46218092 single base substitution T A intron_variant BRCA-EU 21 46218690 46218690 single base substitution C T downstream_gene_variant BRCA-EU 21 46218690 46218690 single base substitution C T intron_variant BRCA-EU 21 46219657 46219657 single base substitution C G downstream_gene_variant BRCA-EU 21 46219657 46219657 single base substitution C G intron_variant BRCA-EU 21 46222190 46222190 single base substitution C T upstream_gene_variant BRCA-EU 21 46222865 46222865 single base substitution C T upstream_gene_variant BRCA-EU 21 46225674 46225674 single base substitution A T upstream_gene_variant BRCA-EU 21 46226554 46226554 single base substitution A G upstream_gene_variant BRCA-FR 21 46199265 46199265 single base substitution C A intron_variant BRCA-FR 21 46199265 46199265 single base substitution C A upstream_gene_variant BRCA-FR 21 46221637 46221637 single base substitution C T 5_prime_UTR_variant BRCA-FR 21 46221637 46221637 single base substitution C T exon_variant BRCA-FR 21 46221637 46221637 single base substitution C T synonymous_variant L9L 27G>A BRCA-FR 21 46221768 46221768 single base substitution C T 5_prime_UTR_variant BRCA-FR 21 46221768 46221768 single base substitution C T upstream_gene_variant BRCA-FR 21 46222359 46222359 single base substitution C G upstream_gene_variant BRCA-FR 21 46225674 46225674 single base substitution A T upstream_gene_variant BRCA-UK 21 46192821 46192821 single base substitution C T downstream_gene_variant BRCA-UK 21 46192821 46192821 single base substitution C T intron_variant BRCA-UK 21 46206941 46206941 single base substitution G A intron_variant BRCA-UK 21 46221698 46221698 single base substitution C T 5_prime_UTR_variant BRCA-UK 21 46221698 46221698 single base substitution C T exon_variant BRCA-UK 21 46221698 46221698 single base substitution C T upstream_gene_variant BRCA-US 21 46191243 46191243 single base substitution G C 3_prime_UTR_variant BRCA-US 21 46191243 46191243 single base substitution G C downstream_gene_variant BRCA-US 21 46191243 46191243 single base substitution G C exon_variant CESC-US 21 46225784 46225784 single base substitution G A upstream_gene_variant CESC-US 21 46226693 46226693 single base substitution G C upstream_gene_variant CESC-US 21 46226929 46226929 single base substitution G A upstream_gene_variant CLLE-ES 21 46189990 46189990 single base substitution G A 3_prime_UTR_variant CLLE-ES 21 46189990 46189990 single base substitution G A downstream_gene_variant CLLE-ES 21 46189990 46189990 single base substitution G A exon_variant CLLE-ES 21 46220170 46220170 single base substitution G C exon_variant CLLE-ES 21 46220170 46220170 single base substitution G C intron_variant COCA-CN 21 46193460 46193460 single base substitution A G downstream_gene_variant COCA-CN 21 46193460 46193460 single base substitution A G splice_donor_variant COCA-CN 21 46193526 46193526 single base substitution C T 3_prime_UTR_variant COCA-CN 21 46193526 46193526 single base substitution C T downstream_gene_variant COCA-CN 21 46193526 46193526 single base substitution C T exon_variant COCA-CN 21 46193526 46193526 single base substitution C T synonymous_variant A107A 321G>A COCA-CN 21 46193526 46193526 single base substitution C T synonymous_variant A79A 237G>A COCA-CN 21 46194726 46194726 single base substitution T C downstream_gene_variant COCA-CN 21 46194726 46194726 single base substitution T C exon_variant COCA-CN 21 46194726 46194726 single base substitution T C intron_variant ESAD-UK 21 46184285 46184285 single base substitution C A downstream_gene_variant ESAD-UK 21 46185509 46185509 single base substitution T G downstream_gene_variant ESAD-UK 21 46185733 46185733 single base substitution C T downstream_gene_variant ESAD-UK 21 46188159 46188159 single base substitution C T downstream_gene_variant ESAD-UK 21 46189145 46189145 single base substitution G A 3_prime_UTR_variant ESAD-UK 21 46189145 46189145 single base substitution G A downstream_gene_variant ESAD-UK 21 46189145 46189145 single base substitution G A exon_variant ESAD-UK 21 46190069 46190069 single base substitution G C 3_prime_UTR_variant ESAD-UK 21 46190069 46190069 single base substitution G C downstream_gene_variant ESAD-UK 21 46190069 46190069 single base substitution G C exon_variant ESAD-UK 21 46194506 46194506 single base substitution C T 3_prime_UTR_variant ESAD-UK 21 46194506 46194506 single base substitution C T downstream_gene_variant ESAD-UK 21 46194506 46194506 single base substitution C T exon_variant ESAD-UK 21 46194506 46194506 single base substitution C T intron_variant ESAD-UK 21 46196039 46196039 insertion of <=200bp - G downstream_gene_variant ESAD-UK 21 46196039 46196039 insertion of <=200bp - G intron_variant ESAD-UK 21 46196039 46196039 insertion of <=200bp - G upstream_gene_variant ESAD-UK 21 46196584 46196584 single base substitution G A downstream_gene_variant ESAD-UK 21 46196584 46196584 single base substitution G A intron_variant ESAD-UK 21 46196584 46196584 single base substitution G A upstream_gene_variant ESAD-UK 21 46199999 46199999 single base substitution A T intron_variant ESAD-UK 21 46199999 46199999 single base substitution A T upstream_gene_variant ESAD-UK 21 46200007 46200007 single base substitution T A intron_variant ESAD-UK 21 46200007 46200007 single base substitution T A upstream_gene_variant ESAD-UK 21 46203593 46203593 single base substitution G C intron_variant ESAD-UK 21 46207470 46207470 single base substitution G A intron_variant ESAD-UK 21 46211765 46211765 single base substitution G T intron_variant ESAD-UK 21 46212612 46212612 single base substitution C T intron_variant ESAD-UK 21 46214776 46214776 single base substitution C T intron_variant ESAD-UK 21 46219840 46219840 single base substitution A C downstream_gene_variant ESAD-UK 21 46219840 46219840 single base substitution A C intron_variant ESAD-UK 21 46221172 46221172 single base substitution T C exon_variant ESAD-UK 21 46221172 46221172 single base substitution T C intron_variant ESAD-UK 21 46222648 46222648 deletion of <=200bp A - upstream_gene_variant ESAD-UK 21 46222965 46222966 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 21 46225053 46225053 single base substitution G A upstream_gene_variant ESAD-UK 21 46226275 46226275 single base substitution C A upstream_gene_variant LAML-KR 21 46184040 46184040 single base substitution C T downstream_gene_variant LAML-KR 21 46217656 46217656 single base substitution A T downstream_gene_variant LAML-KR 21 46217656 46217656 single base substitution A T intron_variant LGG-US 21 46207992 46207992 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LGG-US 21 46207992 46207992 single base substitution G A exon_variant LGG-US 21 46207992 46207992 single base substitution G A intron_variant LGG-US 21 46207992 46207992 single base substitution G A missense_variant P21L 62C>T LICA-FR 21 46195630 46195630 single base substitution A T downstream_gene_variant LICA-FR 21 46195630 46195630 single base substitution A T intron_variant LICA-FR 21 46195630 46195630 single base substitution A T upstream_gene_variant LICA-FR 21 46202473 46202473 single base substitution A G intron_variant LICA-FR 21 46219445 46219445 single base substitution T G downstream_gene_variant LICA-FR 21 46219445 46219445 single base substitution T G intron_variant LINC-JP 21 46197553 46197553 single base substitution T C intron_variant LINC-JP 21 46197553 46197553 single base substitution T C upstream_gene_variant LINC-JP 21 46199431 46199431 single base substitution G C intron_variant LINC-JP 21 46199431 46199431 single base substitution G C upstream_gene_variant LINC-JP 21 46208212 46208212 single base substitution T G intron_variant LINC-JP 21 46213295 46213295 single base substitution A G intron_variant LIRI-JP 21 46192685 46192685 single base substitution T C downstream_gene_variant LIRI-JP 21 46192685 46192685 single base substitution T C intron_variant LIRI-JP 21 46193507 46193507 single base substitution G A 3_prime_UTR_variant LIRI-JP 21 46193507 46193507 single base substitution G A downstream_gene_variant LIRI-JP 21 46193507 46193507 single base substitution G A exon_variant LIRI-JP 21 46193507 46193507 single base substitution G A stop_gained Q114* 340C>T LIRI-JP 21 46193507 46193507 single base substitution G A stop_gained Q86* 256C>T LIRI-JP 21 46193744 46193744 single base substitution G A downstream_gene_variant LIRI-JP 21 46193744 46193744 single base substitution G A exon_variant LIRI-JP 21 46193744 46193744 single base substitution G A intron_variant LIRI-JP 21 46194243 46194243 single base substitution T C downstream_gene_variant LIRI-JP 21 46194243 46194243 single base substitution T C exon_variant LIRI-JP 21 46194243 46194243 single base substitution T C intron_variant LIRI-JP 21 46194362 46194362 single base substitution T C downstream_gene_variant LIRI-JP 21 46194362 46194362 single base substitution T C exon_variant LIRI-JP 21 46194362 46194362 single base substitution T C intron_variant LIRI-JP 21 46198413 46198413 single base substitution T C intron_variant LIRI-JP 21 46198413 46198413 single base substitution T C upstream_gene_variant LIRI-JP 21 46198672 46198672 single base substitution A G intron_variant LIRI-JP 21 46198672 46198672 single base substitution A G upstream_gene_variant LIRI-JP 21 46200143 46200143 single base substitution T A intron_variant LIRI-JP 21 46200143 46200143 single base substitution T A upstream_gene_variant LIRI-JP 21 46201795 46201795 single base substitution T C intron_variant LIRI-JP 21 46202323 46202323 single base substitution A G intron_variant LIRI-JP 21 46205368 46205368 single base substitution A T intron_variant LIRI-JP 21 46207388 46207388 single base substitution A C intron_variant LIRI-JP 21 46207660 46207660 single base substitution T C intron_variant LIRI-JP 21 46208535 46208540 deletion of <=200bp TTTTCT - intron_variant LIRI-JP 21 46209491 46209491 single base substitution G A intron_variant LIRI-JP 21 46209999 46209999 single base substitution T C intron_variant LIRI-JP 21 46215531 46215531 single base substitution A T downstream_gene_variant LIRI-JP 21 46215531 46215531 single base substitution A T intron_variant LIRI-JP 21 46217430 46217430 single base substitution G A downstream_gene_variant LIRI-JP 21 46217430 46217430 single base substitution G A intron_variant LIRI-JP 21 46217502 46217502 single base substitution C T downstream_gene_variant LIRI-JP 21 46217502 46217502 single base substitution C T intron_variant LIRI-JP 21 46218587 46218587 single base substitution C T downstream_gene_variant LIRI-JP 21 46218587 46218587 single base substitution C T intron_variant LIRI-JP 21 46219557 46219557 single base substitution T G downstream_gene_variant LIRI-JP 21 46219557 46219557 single base substitution T G intron_variant LIRI-JP 21 46223049 46223049 single base substitution T G upstream_gene_variant LIRI-JP 21 46223907 46223907 single base substitution T G upstream_gene_variant LIRI-JP 21 46225838 46225838 single base substitution G T upstream_gene_variant LIRI-JP 21 46226253 46226253 single base substitution G A upstream_gene_variant LUSC-KR 21 46186649 46186649 single base substitution G A downstream_gene_variant LUSC-KR 21 46195061 46195061 single base substitution A C downstream_gene_variant LUSC-KR 21 46195061 46195061 single base substitution A C exon_variant LUSC-KR 21 46195061 46195061 single base substitution A C intron_variant LUSC-KR 21 46196871 46196871 single base substitution C G downstream_gene_variant LUSC-KR 21 46196871 46196871 single base substitution C G exon_variant LUSC-KR 21 46196871 46196871 single base substitution C G intron_variant LUSC-KR 21 46196871 46196871 single base substitution C G upstream_gene_variant LUSC-KR 21 46214310 46214310 single base substitution A G intron_variant LUSC-KR 21 46221017 46221017 single base substitution G T exon_variant LUSC-KR 21 46221017 46221017 single base substitution G T intron_variant LUSC-US 21 46191303 46191303 single base substitution G C 3_prime_UTR_variant LUSC-US 21 46191303 46191303 single base substitution G C downstream_gene_variant LUSC-US 21 46191303 46191303 single base substitution G C exon_variant LUSC-US 21 46191303 46191303 single base substitution G C missense_variant L135V 403C>G LUSC-US 21 46191303 46191303 single base substitution G C missense_variant L163V 487C>G MALY-DE 21 46186194 46186194 single base substitution C G downstream_gene_variant MALY-DE 21 46204300 46204300 single base substitution T G intron_variant MALY-DE 21 46204349 46204349 single base substitution T A intron_variant MALY-DE 21 46226575 46226575 single base substitution A C upstream_gene_variant MELA-AU 21 46184837 46184837 single base substitution G A downstream_gene_variant MELA-AU 21 46185397 46185397 single base substitution C T downstream_gene_variant MELA-AU 21 46185984 46185984 single base substitution A G downstream_gene_variant MELA-AU 21 46186249 46186249 single base substitution C T downstream_gene_variant MELA-AU 21 46186456 46186456 single base substitution G A downstream_gene_variant MELA-AU 21 46187631 46187631 single base substitution G A downstream_gene_variant MELA-AU 21 46188220 46188220 single base substitution G A downstream_gene_variant MELA-AU 21 46188316 46188316 single base substitution G T downstream_gene_variant MELA-AU 21 46188634 46188634 single base substitution G A downstream_gene_variant MELA-AU 21 46188904 46188904 single base substitution T G downstream_gene_variant MELA-AU 21 46189359 46189359 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46189359 46189359 single base substitution G A downstream_gene_variant MELA-AU 21 46189359 46189359 single base substitution G A exon_variant MELA-AU 21 46189515 46189515 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46189515 46189515 single base substitution G A downstream_gene_variant MELA-AU 21 46189515 46189515 single base substitution G A exon_variant MELA-AU 21 46190175 46190175 single base substitution A G 3_prime_UTR_variant MELA-AU 21 46190175 46190175 single base substitution A G downstream_gene_variant MELA-AU 21 46190175 46190175 single base substitution A G exon_variant MELA-AU 21 46190544 46190544 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46190544 46190544 single base substitution G A downstream_gene_variant MELA-AU 21 46190544 46190544 single base substitution G A exon_variant MELA-AU 21 46190833 46190833 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46190833 46190833 single base substitution G A downstream_gene_variant MELA-AU 21 46190833 46190833 single base substitution G A exon_variant MELA-AU 21 46191436 46191436 single base substitution A T downstream_gene_variant MELA-AU 21 46191436 46191436 single base substitution A T intron_variant MELA-AU 21 46192345 46192345 single base substitution G A downstream_gene_variant MELA-AU 21 46192345 46192345 single base substitution G A intron_variant MELA-AU 21 46193214 46193214 single base substitution G A downstream_gene_variant MELA-AU 21 46193214 46193214 single base substitution G A intron_variant MELA-AU 21 46193224 46193224 single base substitution G A downstream_gene_variant MELA-AU 21 46193224 46193224 single base substitution G A intron_variant MELA-AU 21 46193407 46193407 single base substitution A T downstream_gene_variant MELA-AU 21 46193407 46193407 single base substitution A T intron_variant MELA-AU 21 46193912 46193912 single base substitution T C downstream_gene_variant MELA-AU 21 46193912 46193912 single base substitution T C exon_variant MELA-AU 21 46193912 46193912 single base substitution T C intron_variant MELA-AU 21 46194370 46194370 single base substitution T A downstream_gene_variant MELA-AU 21 46194370 46194370 single base substitution T A exon_variant MELA-AU 21 46194370 46194370 single base substitution T A intron_variant MELA-AU 21 46194472 46194472 single base substitution G A downstream_gene_variant MELA-AU 21 46194472 46194472 single base substitution G A exon_variant MELA-AU 21 46194472 46194472 single base substitution G A intron_variant MELA-AU 21 46194510 46194510 single base substitution G A 3_prime_UTR_variant MELA-AU 21 46194510 46194510 single base substitution G A downstream_gene_variant MELA-AU 21 46194510 46194510 single base substitution G A exon_variant MELA-AU 21 46194510 46194510 single base substitution G A intron_variant MELA-AU 21 46194601 46194601 single base substitution T C downstream_gene_variant MELA-AU 21 46194601 46194601 single base substitution T C exon_variant MELA-AU 21 46194601 46194601 single base substitution T C intron_variant MELA-AU 21 46196253 46196253 single base substitution G A downstream_gene_variant MELA-AU 21 46196253 46196253 single base substitution G A intron_variant MELA-AU 21 46196253 46196253 single base substitution G A upstream_gene_variant MELA-AU 21 46197206 46197206 single base substitution G A downstream_gene_variant MELA-AU 21 46197206 46197206 single base substitution G A exon_variant MELA-AU 21 46197206 46197206 single base substitution G A splice_region_variant MELA-AU 21 46197206 46197206 single base substitution G A upstream_gene_variant MELA-AU 21 46197385 46197385 single base substitution G A intron_variant MELA-AU 21 46197385 46197385 single base substitution G A upstream_gene_variant MELA-AU 21 46197485 46197485 single base substitution G C intron_variant MELA-AU 21 46197485 46197485 single base substitution G C upstream_gene_variant MELA-AU 21 46197717 46197717 single base substitution C T intron_variant MELA-AU 21 46197717 46197717 single base substitution C T upstream_gene_variant MELA-AU 21 46197722 46197722 single base substitution C T intron_variant MELA-AU 21 46197722 46197722 single base substitution C T upstream_gene_variant MELA-AU 21 46197879 46197879 single base substitution C A intron_variant MELA-AU 21 46197879 46197879 single base substitution C A upstream_gene_variant MELA-AU 21 46198756 46198756 single base substitution A C intron_variant MELA-AU 21 46198756 46198756 single base substitution A C upstream_gene_variant MELA-AU 21 46198844 46198844 single base substitution G A intron_variant MELA-AU 21 46198844 46198844 single base substitution G A upstream_gene_variant MELA-AU 21 46198856 46198856 single base substitution G A intron_variant MELA-AU 21 46198856 46198856 single base substitution G A upstream_gene_variant MELA-AU 21 46199184 46199184 single base substitution G A intron_variant MELA-AU 21 46199184 46199184 single base substitution G A upstream_gene_variant MELA-AU 21 46200649 46200649 single base substitution C A intron_variant MELA-AU 21 46200696 46200710 deletion of <=200bp TGTGGGTCACTTATA - intron_variant MELA-AU 21 46201318 46201318 single base substitution G A intron_variant MELA-AU 21 46201525 46201526 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 46201528 46201528 single base substitution G A intron_variant MELA-AU 21 46201572 46201572 single base substitution G A intron_variant MELA-AU 21 46202736 46202736 single base substitution G A intron_variant MELA-AU 21 46202862 46202862 single base substitution A G intron_variant MELA-AU 21 46203423 46203423 single base substitution G A intron_variant MELA-AU 21 46204043 46204043 single base substitution C T intron_variant MELA-AU 21 46204101 46204101 single base substitution G A intron_variant MELA-AU 21 46204458 46204458 single base substitution G A intron_variant MELA-AU 21 46204555 46204555 single base substitution G A intron_variant MELA-AU 21 46204695 46204695 single base substitution G A intron_variant MELA-AU 21 46204839 46204839 single base substitution G A intron_variant MELA-AU 21 46205882 46205882 single base substitution G A intron_variant MELA-AU 21 46206805 46206805 single base substitution G A intron_variant MELA-AU 21 46206935 46206935 single base substitution G A intron_variant MELA-AU 21 46206935 46206936 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 46207458 46207458 single base substitution G A intron_variant MELA-AU 21 46207687 46207687 single base substitution C T intron_variant MELA-AU 21 46207953 46207953 single base substitution G A intron_variant MELA-AU 21 46208351 46208351 single base substitution C G intron_variant MELA-AU 21 46208365 46208365 single base substitution C A intron_variant MELA-AU 21 46208562 46208562 single base substitution T C intron_variant MELA-AU 21 46208713 46208714 multiple base substitution (>=2bp and <=200bp) AA GG intron_variant MELA-AU 21 46209512 46209512 single base substitution C A intron_variant MELA-AU 21 46209719 46209719 single base substitution G A intron_variant MELA-AU 21 46210431 46210431 single base substitution G A intron_variant MELA-AU 21 46210624 46210624 single base substitution A G intron_variant MELA-AU 21 46211449 46211449 single base substitution G A intron_variant MELA-AU 21 46211518 46211518 single base substitution G A intron_variant MELA-AU 21 46211572 46211572 single base substitution G A intron_variant MELA-AU 21 46211988 46211988 single base substitution G A intron_variant MELA-AU 21 46212180 46212180 single base substitution G A intron_variant MELA-AU 21 46212222 46212222 single base substitution G A intron_variant MELA-AU 21 46212580 46212581 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 21 46212847 46212847 single base substitution G A intron_variant MELA-AU 21 46213562 46213562 single base substitution G A intron_variant MELA-AU 21 46214274 46214274 single base substitution G A intron_variant MELA-AU 21 46214641 46214641 single base substitution G A intron_variant MELA-AU 21 46214672 46214672 single base substitution A G intron_variant MELA-AU 21 46215652 46215652 single base substitution G A downstream_gene_variant MELA-AU 21 46215652 46215652 single base substitution G A intron_variant MELA-AU 21 46215997 46215997 single base substitution A G downstream_gene_variant MELA-AU 21 46215997 46215997 single base substitution A G intron_variant MELA-AU 21 46219416 46219416 single base substitution T G downstream_gene_variant MELA-AU 21 46219416 46219416 single base substitution T G intron_variant MELA-AU 21 46219864 46219864 single base substitution G A downstream_gene_variant MELA-AU 21 46219864 46219864 single base substitution G A intron_variant MELA-AU 21 46220345 46220345 insertion of <=200bp - G exon_variant MELA-AU 21 46220345 46220345 insertion of <=200bp - G intron_variant MELA-AU 21 46221419 46221419 single base substitution G A intron_variant MELA-AU 21 46221800 46221801 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 21 46221800 46221801 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 21 46222436 46222436 single base substitution A G upstream_gene_variant MELA-AU 21 46223735 46223735 single base substitution T G upstream_gene_variant MELA-AU 21 46224722 46224722 single base substitution A T upstream_gene_variant MELA-AU 21 46225173 46225173 single base substitution G A upstream_gene_variant MELA-AU 21 46226179 46226179 single base substitution G A upstream_gene_variant MELA-AU 21 46226596 46226596 single base substitution G A upstream_gene_variant MELA-AU 21 46226764 46226764 single base substitution A T upstream_gene_variant ORCA-IN 21 46193344 46193344 single base substitution T C downstream_gene_variant ORCA-IN 21 46193344 46193344 single base substitution T C intron_variant ORCA-IN 21 46209070 46209070 single base substitution C T intron_variant OV-AU 21 46186566 46186566 single base substitution A C downstream_gene_variant OV-AU 21 46193685 46193685 single base substitution A G downstream_gene_variant OV-AU 21 46193685 46193685 single base substitution A G exon_variant OV-AU 21 46193685 46193685 single base substitution A G intron_variant OV-AU 21 46196481 46196481 single base substitution T A downstream_gene_variant OV-AU 21 46196481 46196481 single base substitution T A intron_variant OV-AU 21 46196481 46196481 single base substitution T A upstream_gene_variant OV-AU 21 46200222 46200222 single base substitution A T intron_variant OV-AU 21 46200222 46200222 single base substitution A T upstream_gene_variant OV-AU 21 46200335 46200335 single base substitution C G intron_variant OV-AU 21 46200335 46200335 single base substitution C G upstream_gene_variant OV-AU 21 46205183 46205183 single base substitution G A intron_variant OV-AU 21 46208556 46208556 single base substitution T C intron_variant OV-AU 21 46226780 46226780 single base substitution G A upstream_gene_variant PACA-AU 21 46190393 46190393 single base substitution C T 3_prime_UTR_variant PACA-AU 21 46190393 46190393 single base substitution C T downstream_gene_variant PACA-AU 21 46190393 46190393 single base substitution C T exon_variant PACA-AU 21 46197229 46197229 single base substitution T A 3_prime_UTR_variant PACA-AU 21 46197229 46197229 single base substitution T A downstream_gene_variant PACA-AU 21 46197229 46197229 single base substitution T A exon_variant PACA-AU 21 46197229 46197229 single base substitution T A missense_variant M49L 145A>T PACA-AU 21 46197229 46197229 single base substitution T A missense_variant M77L 229A>T PACA-AU 21 46197229 46197229 single base substitution T A upstream_gene_variant PACA-AU 21 46201363 46201363 single base substitution G A intron_variant PACA-AU 21 46204959 46204959 single base substitution G A intron_variant PACA-AU 21 46209065 46209065 single base substitution C T intron_variant PACA-AU 21 46212231 46212231 single base substitution A C intron_variant PACA-AU 21 46213918 46213918 single base substitution G A intron_variant PACA-AU 21 46214587 46214587 single base substitution C T intron_variant PACA-AU 21 46215006 46215006 single base substitution C T downstream_gene_variant PACA-AU 21 46215006 46215006 single base substitution C T intron_variant PACA-AU 21 46225938 46225938 single base substitution T G upstream_gene_variant PACA-CA 21 46185746 46185746 single base substitution A G downstream_gene_variant PACA-CA 21 46185797 46185797 single base substitution A C downstream_gene_variant PACA-CA 21 46187530 46187530 single base substitution C A downstream_gene_variant PACA-CA 21 46188467 46188467 single base substitution C T downstream_gene_variant PACA-CA 21 46191632 46191632 single base substitution C A downstream_gene_variant PACA-CA 21 46191632 46191632 single base substitution C A intron_variant PACA-CA 21 46197157 46197157 insertion of <=200bp - A downstream_gene_variant PACA-CA 21 46197157 46197157 insertion of <=200bp - A exon_variant PACA-CA 21 46197157 46197157 insertion of <=200bp - A intron_variant PACA-CA 21 46197157 46197157 insertion of <=200bp - A upstream_gene_variant PACA-CA 21 46197591 46197591 single base substitution C T intron_variant PACA-CA 21 46197591 46197591 single base substitution C T upstream_gene_variant PACA-CA 21 46198625 46198625 single base substitution C A intron_variant PACA-CA 21 46198625 46198625 single base substitution C A upstream_gene_variant PACA-CA 21 46200253 46200253 single base substitution G C intron_variant PACA-CA 21 46200253 46200253 single base substitution G C upstream_gene_variant PACA-CA 21 46201914 46201914 single base substitution A G intron_variant PACA-CA 21 46203352 46203352 single base substitution A G intron_variant PACA-CA 21 46211249 46211249 single base substitution C T intron_variant PACA-CA 21 46211704 46211704 single base substitution G A intron_variant PACA-CA 21 46212440 46212440 single base substitution G C intron_variant PACA-CA 21 46213548 46213548 single base substitution A G intron_variant PACA-CA 21 46219185 46219185 single base substitution G A downstream_gene_variant PACA-CA 21 46219185 46219185 single base substitution G A intron_variant PACA-CA 21 46220593 46220593 single base substitution A C exon_variant PACA-CA 21 46220593 46220593 single base substitution A C intron_variant PAEN-AU 21 46214134 46214134 single base substitution T A intron_variant PAEN-IT 21 46191353 46191353 single base substitution T C 3_prime_UTR_variant PAEN-IT 21 46191353 46191353 single base substitution T C downstream_gene_variant PAEN-IT 21 46191353 46191353 single base substitution T C exon_variant PAEN-IT 21 46191353 46191353 single base substitution T C missense_variant D118G 353A>G PAEN-IT 21 46191353 46191353 single base substitution T C missense_variant D146G 437A>G PAEN-IT 21 46192384 46192384 single base substitution A G downstream_gene_variant PAEN-IT 21 46192384 46192384 single base substitution A G intron_variant PAEN-IT 21 46216981 46216981 single base substitution C A downstream_gene_variant PAEN-IT 21 46216981 46216981 single base substitution C A intron_variant PBCA-DE 21 46188937 46188937 single base substitution C T downstream_gene_variant PBCA-DE 21 46193757 46193757 single base substitution C T downstream_gene_variant PBCA-DE 21 46193757 46193757 single base substitution C T exon_variant PBCA-DE 21 46193757 46193757 single base substitution C T intron_variant PBCA-DE 21 46200007 46200007 deletion of <=200bp T - intron_variant PBCA-DE 21 46200007 46200007 deletion of <=200bp T - upstream_gene_variant PRAD-CA 21 46188027 46188027 single base substitution A C downstream_gene_variant PRAD-CA 21 46192094 46192094 single base substitution C T downstream_gene_variant PRAD-CA 21 46192094 46192094 single base substitution C T intron_variant PRAD-CA 21 46198548 46198548 single base substitution T C intron_variant PRAD-CA 21 46198548 46198548 single base substitution T C upstream_gene_variant PRAD-CA 21 46212237 46212237 single base substitution T A intron_variant PRAD-CA 21 46215240 46215240 single base substitution T C downstream_gene_variant PRAD-CA 21 46215240 46215240 single base substitution T C intron_variant PRAD-CA 21 46221995 46221995 single base substitution C T upstream_gene_variant PRAD-UK 21 46189043 46189043 single base substitution A T 3_prime_UTR_variant PRAD-UK 21 46189043 46189043 single base substitution A T downstream_gene_variant PRAD-UK 21 46189043 46189043 single base substitution A T exon_variant PRAD-UK 21 46201250 46201250 single base substitution G A intron_variant PRAD-UK 21 46201839 46201839 insertion of <=200bp - T intron_variant PRAD-UK 21 46201845 46201845 single base substitution G A intron_variant PRAD-UK 21 46203409 46203409 single base substitution C A intron_variant RECA-EU 21 46192058 46192058 single base substitution T A downstream_gene_variant RECA-EU 21 46192058 46192058 single base substitution T A intron_variant RECA-EU 21 46193478 46193478 single base substitution C T 3_prime_UTR_variant RECA-EU 21 46193478 46193478 single base substitution C T downstream_gene_variant RECA-EU 21 46193478 46193478 single base substitution C T exon_variant RECA-EU 21 46193478 46193478 single base substitution C T synonymous_variant V123V 369G>A RECA-EU 21 46193478 46193478 single base substitution C T synonymous_variant V95V 285G>A RECA-EU 21 46200999 46200999 single base substitution G C intron_variant RECA-EU 21 46203818 46203818 single base substitution C T intron_variant RECA-EU 21 46203819 46203819 single base substitution C G intron_variant RECA-EU 21 46217655 46217655 single base substitution A G downstream_gene_variant RECA-EU 21 46217655 46217655 single base substitution A G intron_variant RECA-EU 21 46223526 46223526 single base substitution G C upstream_gene_variant RECA-EU 21 46225713 46225713 single base substitution G A upstream_gene_variant SKCA-BR 21 46187852 46187852 single base substitution G A downstream_gene_variant SKCA-BR 21 46188457 46188457 single base substitution G A downstream_gene_variant SKCA-BR 21 46188828 46188828 single base substitution A G downstream_gene_variant SKCA-BR 21 46190977 46190977 single base substitution G A 3_prime_UTR_variant SKCA-BR 21 46190977 46190977 single base substitution G A downstream_gene_variant SKCA-BR 21 46190977 46190977 single base substitution G A exon_variant SKCA-BR 21 46193864 46193864 single base substitution G A downstream_gene_variant SKCA-BR 21 46193864 46193864 single base substitution G A exon_variant SKCA-BR 21 46193864 46193864 single base substitution G A intron_variant SKCA-BR 21 46196032 46196033 deletion of <=200bp CG - downstream_gene_variant SKCA-BR 21 46196032 46196033 deletion of <=200bp CG - intron_variant SKCA-BR 21 46196032 46196033 deletion of <=200bp CG - upstream_gene_variant SKCA-BR 21 46196039 46196039 single base substitution G T downstream_gene_variant SKCA-BR 21 46196039 46196039 single base substitution G T intron_variant SKCA-BR 21 46196039 46196039 single base substitution G T upstream_gene_variant SKCA-BR 21 46205259 46205259 single base substitution A G intron_variant SKCA-BR 21 46206330 46206330 single base substitution A T intron_variant SKCA-BR 21 46206995 46206995 single base substitution G C intron_variant SKCA-BR 21 46207808 46207808 single base substitution A G intron_variant SKCA-BR 21 46207886 46207886 single base substitution G A intron_variant SKCA-BR 21 46207886 46207886 single base substitution G A splice_region_variant SKCA-BR 21 46207995 46207995 single base substitution G A 5_prime_UTR_variant SKCA-BR 21 46207995 46207995 single base substitution G A exon_variant SKCA-BR 21 46207995 46207995 single base substitution G A intron_variant SKCA-BR 21 46207995 46207995 single base substitution G A missense_variant P20L 59C>T SKCA-BR 21 46212645 46212645 single base substitution G A intron_variant SKCA-BR 21 46214452 46214453 deletion of <=200bp GT - intron_variant SKCA-BR 21 46214674 46214674 single base substitution C T intron_variant SKCA-BR 21 46216044 46216044 single base substitution G A downstream_gene_variant SKCA-BR 21 46216044 46216044 single base substitution G A intron_variant SKCA-BR 21 46216986 46216986 single base substitution G A downstream_gene_variant SKCA-BR 21 46216986 46216986 single base substitution G A intron_variant SKCA-BR 21 46217523 46217523 single base substitution G A downstream_gene_variant SKCA-BR 21 46217523 46217523 single base substitution G A intron_variant SKCA-BR 21 46218251 46218251 single base substitution T G downstream_gene_variant SKCA-BR 21 46218251 46218251 single base substitution T G intron_variant SKCA-BR 21 46219557 46219557 single base substitution T G downstream_gene_variant SKCA-BR 21 46219557 46219557 single base substitution T G intron_variant SKCA-BR 21 46220161 46220161 single base substitution C T exon_variant SKCA-BR 21 46220161 46220161 single base substitution C T intron_variant SKCA-BR 21 46221525 46221525 single base substitution T C intron_variant SKCA-BR 21 46221654 46221654 single base substitution T C 5_prime_UTR_variant SKCA-BR 21 46221654 46221654 single base substitution T C exon_variant SKCA-BR 21 46221654 46221654 single base substitution T C missense_variant T4A 10A>G SKCA-BR 21 46221741 46221741 single base substitution C T 5_prime_UTR_variant SKCA-BR 21 46221741 46221741 single base substitution C T upstream_gene_variant SKCA-BR 21 46222382 46222382 single base substitution A G upstream_gene_variant SKCA-BR 21 46225067 46225067 single base substitution C T upstream_gene_variant SKCA-BR 21 46225209 46225209 single base substitution A C upstream_gene_variant SKCA-BR 21 46226181 46226181 single base substitution T G upstream_gene_variant SKCM-US 21 46197277 46197277 single base substitution G A 3_prime_UTR_variant SKCM-US 21 46197277 46197277 single base substitution G A downstream_gene_variant SKCM-US 21 46197277 46197277 single base substitution G A exon_variant SKCM-US 21 46197277 46197277 single base substitution G A missense_variant P33S 97C>T SKCM-US 21 46197277 46197277 single base substitution G A missense_variant P61S 181C>T SKCM-US 21 46197277 46197277 single base substitution G A upstream_gene_variant SKCM-US 21 46226920 46226920 single base substitution G A upstream_gene_variant STAD-US 21 46193537 46193537 single base substitution C T 3_prime_UTR_variant STAD-US 21 46193537 46193537 single base substitution C T downstream_gene_variant STAD-US 21 46193537 46193537 single base substitution C T exon_variant STAD-US 21 46193537 46193537 single base substitution C T missense_variant E104K 310G>A STAD-US 21 46193537 46193537 single base substitution C T missense_variant E76K 226G>A STAD-US 21 46207833 46207833 single base substitution A G intron_variant STAD-US 21 46207833 46207833 single base substitution A G splice_donor_variant STAD-US 21 46208000 46208000 single base substitution C T 5_prime_UTR_variant STAD-US 21 46208000 46208000 single base substitution C T exon_variant STAD-US 21 46208000 46208000 single base substitution C T intron_variant STAD-US 21 46208000 46208000 single base substitution C T synonymous_variant L18L 54G>A STAD-US 21 46226874 46226875 deletion of <=200bp TG - upstream_gene_variant STAD-US 21 46226885 46226885 single base substitution A G upstream_gene_variant THCA-SA 21 46189838 46189838 single base substitution C A 3_prime_UTR_variant THCA-SA 21 46189838 46189838 single base substitution C A downstream_gene_variant THCA-SA 21 46189838 46189838 single base substitution C A exon_variant THCA-SA 21 46191117 46191117 single base substitution A G 3_prime_UTR_variant THCA-SA 21 46191117 46191117 single base substitution A G downstream_gene_variant THCA-SA 21 46191117 46191117 single base substitution A G exon_variant THCA-SA 21 46193583 46193583 single base substitution G A 3_prime_UTR_variant THCA-SA 21 46193583 46193583 single base substitution G A downstream_gene_variant THCA-SA 21 46193583 46193583 single base substitution G A exon_variant THCA-SA 21 46193583 46193583 single base substitution G A synonymous_variant V60V 180C>T THCA-SA 21 46193583 46193583 single base substitution G A synonymous_variant V88V 264C>T THCA-SA 21 46225665 46225665 single base substitution T G upstream_gene_variant UCEC-US 21 46226848 46226848 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 PT23_2 COSM5904054 c.397G>C p.E133Q Substitution - Missense 21:44771478-44771478 - CSCC-58-T COSM4521771 c.112G>A p.E38K Substitution - Missense 21:44787933-44787933 - TCGA-HT-A614-01 COSM1414441 c.62C>T p.P21L Substitution - Missense 21:44788077-44788077 - TCGA-HU-A4GT-01 COSM4102009 c.125+2T>C p.? Unknown 21:44787918-44787918 - S0080 COSM5883645 c.106_107insT p.E36fs*15 Insertion - Frameshift 21:44787938-44787939 - PET026T COSM4963851 c.437A>G p.D146G Substitution - Missense 21:44771438-44771438 - 2066131 COSM1716874 c.188A>T p.D63V Substitution - Missense 21:44777355-44777355 - TCGA-CG-5721-01 COSM4102010 c.54G>A p.L18L Substitution - coding silent 21:44788085-44788085 - PD8830a COSM51617 c.474C>T p.I158I Substitution - coding silent 21:44771401-44771401 - 8051900 COSM3390026 c.229A>T p.M77L Substitution - Missense 21:44777314-44777314 - ITNET_0026_T COSM4963851 c.437A>G p.D146G Substitution - Missense 21:44771438-44771438 - Gp2D COSM2821381 c.418G>A p.A140T Substitution - Missense 21:44771457-44771457 - C0081T COSM4164862 c.369G>A p.V123V Substitution - coding silent 21:44773563-44773563 - sysucc-834T COSM5486182 c.321G>A p.A107A Substitution - coding silent 21:44773611-44773611 - PAPNNX COSM5004537 c.434G>A p.R145H Substitution - Missense 21:44771441-44771441 - Gp5D COSM2821381 c.418G>A p.A140T Substitution - Missense 21:44771457-44771457 - 8052598 COSM3390026 c.229A>T p.M77L Substitution - Missense 21:44777314-44777314 - CSCC-31-T COSM4480216 c.239C>T p.P80L Substitution - Missense 21:44777304-44777304 - 1432464 COSM51617 c.474C>T p.I158I Substitution - coding silent 21:44771401-44771401 - 1 COSM1716874 c.188A>T p.D63V Substitution - Missense 21:44777355-44777355 - HT115 COSM2821383 c.339G>A p.V113V Substitution - coding silent 21:44773593-44773593 - 2066130 COSM1716874 c.188A>T p.D63V Substitution - Missense 21:44777355-44777355 - 587284 COSM1231541 c.464C>T p.A155V Substitution - Missense 21:44771411-44771411 - C086 COSM5541261 c.180C>T p.F60F Substitution - coding silent 21:44777363-44777363 - CSCC-55-T COSM4484111 c.276C>T p.I92I Substitution - coding silent 21:44773656-44773656 - 1432465 COSM51617 c.474C>T p.I158I Substitution - coding silent 21:44771401-44771401 - PTC_212 COSM5958275 c.264C>T p.V88V Substitution - coding silent 21:44773668-44773668 - S02249 COSM5680144 c.27G>A p.L9L Substitution - coding silent 21:44801722-44801722 - ESCC_140 COSM5649871 c.357C>T p.I119I Substitution - coding silent 21:44773575-44773575 - PAPNNX COSM2821386 c.195G>A p.P65P Substitution - coding silent 21:44777348-44777348 - CSCC-41-T COSM4470245 c.164C>T p.P55L Substitution - Missense 21:44777379-44777379 - RK070_C01 COSM3740323 c.340C>T p.Q114* Substitution - Nonsense 21:44773592-44773592 - 1432466 COSM51617 c.474C>T p.I158I Substitution - coding silent 21:44771401-44771401 - Br27P COSM40737 c.61C>T p.P21S Substitution - Missense 21:44788078-44788078 - TCGA-66-2785-01 COSM725845 c.487C>G p.L163V Substitution - Missense 21:44771388-44771388 - TCGA-D3-A2JF-06 COSM3551536 c.181C>T p.P61S Substitution - Missense 21:44777362-44777362 - Pat_06_A COSM5858762 c.298C>A p.P100T Substitution - Missense 21:44773634-44773634 - T36 COSM4738676 c.435C>T p.R145R Substitution - coding silent 21:44771440-44771440 - TCGA-B7-5816-01 COSM4102008 c.310G>A p.E104K Substitution - Missense 21:44773622-44773622 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529420 21q22.3 603124 2403353|CGAP|BC001738|G/T|non-coding||583|Validated; 2403353|CGAP|BC008351|G/T|non-coding||581|Validated; 2403353|CGAP|BC011569|G/T|non-coding||593|Validated; 2403354|CGAP|BC001738|A/G|non-coding||569|Validated; 2403354|CGAP|BC008351|A/G|non-coding||567|Validated; 2403354|CGAP|BC011569|A/G|non-coding||579|Validated; 2403362|CGAP|BC001738|C/G|non-coding||801|Candidate; 2403362|CGAP|BC008351|C/G|non-coding||798|Candidate; 2403362|CGAP|BC011569|C/G|non-coding||810|Candidate Hs.701336;Hs.701340;Hs.701343;Hs.701344;Hs.701351;Hs.701353;Hs.701355;Hs.701357;Hs.701361;Hs.701364;Hs.701378;Hs.701392;Hs.701394;Hs.701398 21q22.3 603124 2403353|CGAP|BC001738|G/T|non-coding||583|Validated; 2403353|CGAP|BC008351|G/T|non-coding||581|Validated; 2403353|CGAP|BC011569|G/T|non-coding||593|Validated; 2403354|CGAP|BC001738|A/G|non-coding||569|Validated; 2403354|CGAP|BC008351|A/G|non-coding||567|Validated; 2403354|CGAP|BC011569|A/G|non-coding||579|Validated; 2403362|CGAP|BC001738|C/G|non-coding||801|Candidate; 2403362|CGAP|BC008351|C/G|non-coding||798|Candidate; 2403362|CGAP|BC011569|C/G|non-coding||810|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.R109L c.326G>T 21 46193521 STAD C G Missense p.E50Q c.148G>C 21 46197310 LUAD C T IntronicSNV . c.245-155G>A 21 46193757 MB C T Missense p.E104K c.310G>A 21 46193537 STAD C T Missense p.P21S c.61C>T 21 46207993 GBM G A IntronicSNV . c.245-142C>T 21 46193744 HC G A Missense p.P61S c.181C>T 21 46197277 CM G A Synonymous p.L120L c.358C>T 21 46193489 HNSC T C IntronicSNV . c.245-641A>G 21 46194243 HC