Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 22 31583100 31583100 + Missense_Mutation SNP C C T TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr22:31583100C>T c.20C>T c.(19-21)tCg>tTg p.S7L BLCA 22 31583119 31583119 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr22:31583119G>C c.39G>C c.(37-39)gaG>gaC p.E13D BLCA 22 31592944 31592944 + Missense_Mutation SNP C C G TCGA-SY-A9G0-01A-12D-A38G-08 TCGA-SY-A9G0-10A-01D-A38J-08 g.chr22:31592944C>G c.331C>G c.(331-333)Caa>Gaa p.Q111E BRCA 22 31600503 31600503 + Missense_Mutation SNP C C G TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr22:31600503C>G c.510C>G c.(508-510)gaC>gaG p.D170E CESC 22 31592952 31592952 + Missense_Mutation SNP G G C TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr22:31592952G>C c.339G>C c.(337-339)caG>caC p.Q113H COAD 22 31591540 31591540 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr22:31591540G>T c.281G>T c.(280-282)aGg>aTg p.R94M COADREAD 22 31591540 31591540 + Missense_Mutation SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr22:31591540G>T c.281G>T c.(280-282)aGg>aTg p.R94M ESCA 22 31592935 31592935 + Missense_Mutation SNP C C G TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr22:31592935C>G c.322C>G c.(322-324)Cct>Gct p.P108A GBMLGG 22 31583084 31583084 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:31583084G>A c.4G>A c.(4-6)Gca>Aca p.A2T HNSC 22 31592944 31592944 + Missense_Mutation SNP C C G TCGA-CQ-5326-01A-01D-1870-08 TCGA-CQ-5326-10A-01D-1870-08 g.chr22:31592944C>G c.331C>G c.(331-333)Caa>Gaa p.Q111E HNSC 22 31597555 31597555 + Silent SNP G G A TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr22:31597555G>A c.435G>A c.(433-435)ggG>ggA p.G145G KIPAN 22 31583132 31583132 + Frame_Shift_Del DEL G G - TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr22:31583132delG c.52delG c.(52-54)gggfs p.G19fs KIPAN 22 31600511 31600511 + Missense_Mutation SNP T T A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr22:31600511T>A c.518T>A c.(517-519)tTc>tAc p.F173Y KIRP 22 31583132 31583132 + Frame_Shift_Del DEL G G - TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr22:31583132delG c.52delG c.(52-54)gggfs p.G19fs KIRP 22 31600511 31600511 + Missense_Mutation SNP T T A TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr22:31600511T>A c.518T>A c.(517-519)tTc>tAc p.F173Y LGG 22 31583084 31583084 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:31583084G>A c.4G>A c.(4-6)Gca>Aca p.A2T LUAD 22 31583195 31583195 + Missense_Mutation SNP T T A TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr22:31583195T>A c.115T>A c.(115-117)Tgc>Agc p.C39S LUAD 22 31597539 31597539 + Missense_Mutation SNP G G T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr22:31597539G>T c.419G>T c.(418-420)gGg>gTg p.G140V LUSC 22 31600551 31600551 + Missense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr22:31600551G>T c.558G>T c.(556-558)atG>atT p.M186I OV 22 31600476 31600476 + Splice_Site SNP T T A TCGA-36-2548-01A-01D-1526-09 TCGA-36-2548-10A-01D-1526-09 g.chr22:31600476T>A c.483T>A c.(481-483)gcT>gcA p.A161A SKCM 22 31592963 31592963 + Missense_Mutation SNP C C T TCGA-ER-A42K-06A-11D-A24R-08 TCGA-ER-A42K-10A-01D-A24R-08 g.chr22:31592963C>T c.350C>T c.(349-351)cCg>cTg p.P117L SKCM 22 31600528 31600528 + Silent SNP C C T TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr22:31600528C>T c.535C>T c.(535-537)Cta>Tta p.L179L SKCM 22 31600542 31600542 + Silent SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:31600542G>A c.549G>A c.(547-549)ctG>ctA p.L183L SKCM 22 31600543 31600543 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:31600543G>A c.550G>A c.(550-552)Gtg>Atg p.V184M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 22 31552699 31552699 single base substitution G T upstream_gene_variant BRCA-EU 22 31551757 31551757 single base substitution C T upstream_gene_variant BRCA-EU 22 31552037 31552037 single base substitution G A upstream_gene_variant BRCA-EU 22 31552466 31552466 single base substitution C T upstream_gene_variant BRCA-EU 22 31553443 31553443 single base substitution G A upstream_gene_variant BRCA-EU 22 31553912 31553912 single base substitution C G upstream_gene_variant BRCA-EU 22 31553948 31553948 single base substitution G T upstream_gene_variant BRCA-EU 22 31554012 31554012 single base substitution G A upstream_gene_variant BRCA-EU 22 31554017 31554017 single base substitution G C upstream_gene_variant BRCA-EU 22 31554239 31554239 single base substitution T C upstream_gene_variant BRCA-EU 22 31554731 31554731 single base substitution C G upstream_gene_variant BRCA-EU 22 31555805 31555805 single base substitution C A upstream_gene_variant BRCA-EU 22 31556711 31556711 single base substitution G A intron_variant BRCA-EU 22 31556783 31556783 deletion of <=200bp A - intron_variant BRCA-EU 22 31558896 31558896 single base substitution G T intron_variant BRCA-EU 22 31560599 31560599 single base substitution G A intron_variant BRCA-EU 22 31561986 31561986 deletion of <=200bp T - intron_variant BRCA-EU 22 31562611 31562611 single base substitution T C intron_variant BRCA-EU 22 31563499 31563499 single base substitution C G intron_variant BRCA-EU 22 31563846 31563846 single base substitution G A intron_variant BRCA-EU 22 31564396 31564396 deletion of <=200bp C - intron_variant BRCA-EU 22 31564670 31564670 single base substitution C G intron_variant BRCA-EU 22 31565802 31565802 single base substitution G A intron_variant BRCA-EU 22 31568883 31568883 single base substitution C G intron_variant BRCA-EU 22 31569819 31569819 single base substitution G A intron_variant BRCA-EU 22 31572293 31572293 single base substitution G T intron_variant BRCA-EU 22 31572323 31572323 single base substitution C G intron_variant BRCA-EU 22 31576564 31576564 single base substitution T A intron_variant BRCA-EU 22 31577683 31577683 single base substitution C G intron_variant BRCA-EU 22 31578482 31578482 single base substitution C T intron_variant BRCA-EU 22 31580010 31580010 single base substitution C T intron_variant BRCA-EU 22 31580362 31580362 single base substitution C G intron_variant BRCA-EU 22 31580678 31580678 single base substitution C T intron_variant BRCA-EU 22 31580868 31580868 single base substitution C G intron_variant BRCA-EU 22 31581719 31581719 single base substitution C T intron_variant BRCA-EU 22 31584379 31584379 single base substitution C G intron_variant BRCA-EU 22 31585304 31585304 single base substitution C T intron_variant BRCA-EU 22 31585394 31585394 single base substitution C T intron_variant BRCA-EU 22 31585708 31585708 single base substitution C T intron_variant BRCA-EU 22 31586409 31586409 single base substitution A T intron_variant BRCA-EU 22 31587427 31587427 single base substitution G A intron_variant BRCA-EU 22 31588358 31588358 single base substitution G C intron_variant BRCA-EU 22 31589183 31589183 single base substitution G A intron_variant BRCA-EU 22 31590717 31590717 deletion of <=200bp A - intron_variant BRCA-EU 22 31591165 31591165 single base substitution C G intron_variant BRCA-EU 22 31592108 31592108 single base substitution C G intron_variant BRCA-EU 22 31592346 31592346 single base substitution C A intron_variant BRCA-EU 22 31593902 31593902 deletion of <=200bp A - downstream_gene_variant BRCA-EU 22 31593902 31593902 deletion of <=200bp A - intron_variant BRCA-EU 22 31594055 31594055 single base substitution A G downstream_gene_variant BRCA-EU 22 31594055 31594055 single base substitution A G intron_variant BRCA-EU 22 31596900 31596900 single base substitution T C downstream_gene_variant BRCA-EU 22 31596900 31596900 single base substitution T C intron_variant BRCA-EU 22 31598843 31598843 single base substitution G A intron_variant BRCA-EU 22 31599115 31599115 single base substitution C A intron_variant BRCA-EU 22 31601076 31601076 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 31601076 31601076 single base substitution C T downstream_gene_variant BRCA-EU 22 31601076 31601076 single base substitution C T exon_variant BRCA-EU 22 31601076 31601076 single base substitution C T intron_variant BRCA-EU 22 31602005 31602005 single base substitution G C 3_prime_UTR_variant BRCA-EU 22 31602005 31602005 single base substitution G C downstream_gene_variant BRCA-EU 22 31602005 31602005 single base substitution G C exon_variant BRCA-EU 22 31602006 31602006 single base substitution G T 3_prime_UTR_variant BRCA-EU 22 31602006 31602006 single base substitution G T downstream_gene_variant BRCA-EU 22 31602006 31602006 single base substitution G T exon_variant BRCA-EU 22 31602575 31602575 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 31602575 31602575 single base substitution G A downstream_gene_variant BRCA-EU 22 31602575 31602575 single base substitution G A exon_variant BRCA-EU 22 31602737 31602737 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 31602737 31602737 single base substitution C G downstream_gene_variant BRCA-EU 22 31602737 31602737 single base substitution C G exon_variant BRCA-EU 22 31603562 31603562 single base substitution C T downstream_gene_variant BRCA-FR 22 31553443 31553443 single base substitution G A upstream_gene_variant BRCA-FR 22 31579531 31579531 single base substitution T A intron_variant BRCA-FR 22 31588358 31588358 single base substitution G C intron_variant BRCA-FR 22 31592108 31592108 single base substitution C G intron_variant BRCA-FR 22 31598843 31598843 single base substitution G A intron_variant BRCA-FR 22 31601076 31601076 single base substitution C T 3_prime_UTR_variant BRCA-FR 22 31601076 31601076 single base substitution C T downstream_gene_variant BRCA-FR 22 31601076 31601076 single base substitution C T exon_variant BRCA-FR 22 31601076 31601076 single base substitution C T intron_variant BRCA-FR 22 31602962 31602962 single base substitution G T 3_prime_UTR_variant BRCA-FR 22 31602962 31602962 single base substitution G T downstream_gene_variant BRCA-FR 22 31602962 31602962 single base substitution G T exon_variant BRCA-FR 22 31605272 31605272 single base substitution G A downstream_gene_variant BRCA-UK 22 31592938 31592938 single base substitution C T exon_variant BRCA-UK 22 31592938 31592938 single base substitution C T intron_variant BRCA-UK 22 31592938 31592938 single base substitution C T missense_variant R109C 325C>T BRCA-UK 22 31592938 31592938 single base substitution C T missense_variant R47C 139C>T BRCA-UK 22 31596900 31596900 single base substitution T C downstream_gene_variant BRCA-UK 22 31596900 31596900 single base substitution T C intron_variant BRCA-US 22 31600503 31600503 single base substitution C G exon_variant BRCA-US 22 31600503 31600503 single base substitution C G missense_variant D108E 324C>G BRCA-US 22 31600503 31600503 single base substitution C G missense_variant D114E 342C>G BRCA-US 22 31600503 31600503 single base substitution C G missense_variant D170E 510C>G CESC-US 22 31592952 31592952 single base substitution G C exon_variant CESC-US 22 31592952 31592952 single base substitution G C intron_variant CESC-US 22 31592952 31592952 single base substitution G C missense_variant Q113H 339G>C CESC-US 22 31592952 31592952 single base substitution G C missense_variant Q51H 153G>C CLLE-ES 22 31596064 31596064 single base substitution C T downstream_gene_variant CLLE-ES 22 31596064 31596064 single base substitution C T intron_variant CLLE-ES 22 31596626 31596626 single base substitution A T downstream_gene_variant CLLE-ES 22 31596626 31596626 single base substitution A T intron_variant EOPC-DE 22 31554362 31554362 single base substitution C T upstream_gene_variant EOPC-DE 22 31568249 31568249 single base substitution A G intron_variant ESAD-UK 22 31552109 31552109 single base substitution C A upstream_gene_variant ESAD-UK 22 31552403 31552403 single base substitution A C upstream_gene_variant ESAD-UK 22 31555951 31555951 single base substitution T C upstream_gene_variant ESAD-UK 22 31556712 31556712 single base substitution C T intron_variant ESAD-UK 22 31558883 31558883 single base substitution T C intron_variant ESAD-UK 22 31559643 31559646 deletion of <=200bp TTTA - intron_variant ESAD-UK 22 31559643 31559654 deletion of <=200bp TTTATTTATTTA - intron_variant ESAD-UK 22 31559647 31559647 insertion of <=200bp - T intron_variant ESAD-UK 22 31562583 31562583 single base substitution C T intron_variant ESAD-UK 22 31566349 31566349 single base substitution C T intron_variant ESAD-UK 22 31567766 31567766 single base substitution C T intron_variant ESAD-UK 22 31573508 31573508 single base substitution T G intron_variant ESAD-UK 22 31576096 31576096 deletion of <=200bp G - intron_variant ESAD-UK 22 31576270 31576270 single base substitution G A intron_variant ESAD-UK 22 31576899 31576899 single base substitution C G intron_variant ESAD-UK 22 31577051 31577051 single base substitution T A intron_variant ESAD-UK 22 31577231 31577231 single base substitution T G intron_variant ESAD-UK 22 31577310 31577310 single base substitution A G intron_variant ESAD-UK 22 31577474 31577474 single base substitution C T intron_variant ESAD-UK 22 31577752 31577752 single base substitution A G intron_variant ESAD-UK 22 31582812 31582812 single base substitution G A intron_variant ESAD-UK 22 31583066 31583066 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 22 31583066 31583066 single base substitution C T exon_variant ESAD-UK 22 31583066 31583066 single base substitution C T intron_variant ESAD-UK 22 31583280 31583280 single base substitution A G intron_variant ESAD-UK 22 31586809 31586809 single base substitution C T intron_variant ESAD-UK 22 31589040 31589040 single base substitution A G intron_variant ESAD-UK 22 31589813 31589813 deletion of <=200bp A - intron_variant ESAD-UK 22 31591031 31591031 single base substitution C T intron_variant ESAD-UK 22 31593111 31593111 deletion of <=200bp A - downstream_gene_variant ESAD-UK 22 31593111 31593111 deletion of <=200bp A - exon_variant ESAD-UK 22 31593111 31593111 deletion of <=200bp A - intron_variant ESAD-UK 22 31594279 31594279 single base substitution A T downstream_gene_variant ESAD-UK 22 31594279 31594279 single base substitution A T intron_variant ESAD-UK 22 31595923 31595923 single base substitution C A downstream_gene_variant ESAD-UK 22 31595923 31595923 single base substitution C A intron_variant ESAD-UK 22 31596347 31596347 single base substitution A C downstream_gene_variant ESAD-UK 22 31596347 31596347 single base substitution A C intron_variant ESAD-UK 22 31598198 31598198 single base substitution C T intron_variant ESAD-UK 22 31600105 31600105 single base substitution C T intron_variant ESAD-UK 22 31600287 31600287 single base substitution C A intron_variant ESAD-UK 22 31603284 31603284 single base substitution A C downstream_gene_variant ESAD-UK 22 31603936 31603936 single base substitution G A downstream_gene_variant ESAD-UK 22 31604702 31604702 single base substitution G A downstream_gene_variant ESCA-CN 22 31583108 31583108 single base substitution G A 5_prime_UTR_variant ESCA-CN 22 31583108 31583108 single base substitution G A exon_variant ESCA-CN 22 31583108 31583108 single base substitution G A intron_variant ESCA-CN 22 31583108 31583108 single base substitution G A missense_variant A10T 28G>A LAML-KR 22 31552702 31552702 single base substitution A G upstream_gene_variant LAML-KR 22 31600221 31600221 single base substitution T C intron_variant LICA-FR 22 31565312 31565312 single base substitution C T intron_variant LICA-FR 22 31583094 31583094 single base substitution G A 5_prime_UTR_variant LICA-FR 22 31583094 31583094 single base substitution G A exon_variant LICA-FR 22 31583094 31583094 single base substitution G A intron_variant LICA-FR 22 31583094 31583094 single base substitution G A missense_variant G5E 14G>A LINC-JP 22 31583923 31583923 single base substitution G T intron_variant LINC-JP 22 31583933 31583933 single base substitution G C intron_variant LINC-JP 22 31585167 31585167 single base substitution A G intron_variant LINC-JP 22 31588738 31588738 single base substitution A G intron_variant LINC-JP 22 31588874 31588874 single base substitution T C intron_variant LINC-JP 22 31599278 31599278 single base substitution G A intron_variant LINC-JP 22 31601424 31601424 single base substitution T A 3_prime_UTR_variant LINC-JP 22 31601424 31601424 single base substitution T A downstream_gene_variant LINC-JP 22 31601424 31601424 single base substitution T A exon_variant LIRI-JP 22 31551530 31551530 deletion of <=200bp A - upstream_gene_variant LIRI-JP 22 31552891 31552891 single base substitution G T upstream_gene_variant LIRI-JP 22 31555753 31555753 single base substitution T C upstream_gene_variant LIRI-JP 22 31557329 31557329 single base substitution G T intron_variant LIRI-JP 22 31561398 31561398 single base substitution T C intron_variant LIRI-JP 22 31561902 31561902 single base substitution A G intron_variant LIRI-JP 22 31562380 31562380 single base substitution A G intron_variant LIRI-JP 22 31564588 31564588 single base substitution T C intron_variant LIRI-JP 22 31567212 31567212 single base substitution A G intron_variant LIRI-JP 22 31568073 31568073 single base substitution A G intron_variant LIRI-JP 22 31570564 31570564 single base substitution A G intron_variant LIRI-JP 22 31572415 31572415 single base substitution C T intron_variant LIRI-JP 22 31572932 31572932 single base substitution A T intron_variant LIRI-JP 22 31573046 31573046 single base substitution T C intron_variant LIRI-JP 22 31575254 31575254 single base substitution C T intron_variant LIRI-JP 22 31575855 31575855 single base substitution C T intron_variant LIRI-JP 22 31577540 31577540 single base substitution C T intron_variant LIRI-JP 22 31582128 31582128 single base substitution A G intron_variant LIRI-JP 22 31582140 31582140 single base substitution A C intron_variant LIRI-JP 22 31584145 31584145 single base substitution T G intron_variant LIRI-JP 22 31584196 31584196 single base substitution A G intron_variant LIRI-JP 22 31585243 31585243 single base substitution T G intron_variant LIRI-JP 22 31585939 31585939 single base substitution A G intron_variant LIRI-JP 22 31587350 31587350 single base substitution G A intron_variant LIRI-JP 22 31587506 31587506 single base substitution A G intron_variant LIRI-JP 22 31588698 31588698 single base substitution A G intron_variant LIRI-JP 22 31593378 31593378 single base substitution A C downstream_gene_variant LIRI-JP 22 31593378 31593378 single base substitution A C intron_variant LIRI-JP 22 31596739 31596739 single base substitution G A downstream_gene_variant LIRI-JP 22 31596739 31596739 single base substitution G A intron_variant LIRI-JP 22 31599745 31599745 single base substitution G T intron_variant LIRI-JP 22 31600748 31600748 single base substitution C T 3_prime_UTR_variant LIRI-JP 22 31600748 31600748 single base substitution C T downstream_gene_variant LIRI-JP 22 31600748 31600748 single base substitution C T exon_variant LIRI-JP 22 31600828 31600828 single base substitution A G 3_prime_UTR_variant LIRI-JP 22 31600828 31600828 single base substitution A G downstream_gene_variant LIRI-JP 22 31600828 31600828 single base substitution A G exon_variant LIRI-JP 22 31602587 31602587 single base substitution G A 3_prime_UTR_variant LIRI-JP 22 31602587 31602587 single base substitution G A downstream_gene_variant LIRI-JP 22 31602587 31602587 single base substitution G A exon_variant LIRI-JP 22 31604533 31604533 single base substitution G A downstream_gene_variant LIRI-JP 22 31605387 31605387 single base substitution G A downstream_gene_variant LIRI-JP 22 31605640 31605640 single base substitution A T downstream_gene_variant LIRI-JP 22 31606388 31606388 single base substitution A G downstream_gene_variant LIRI-JP 22 31606898 31606898 single base substitution C T downstream_gene_variant LUSC-KR 22 31552066 31552066 single base substitution T C upstream_gene_variant LUSC-KR 22 31555665 31555665 single base substitution C A upstream_gene_variant LUSC-KR 22 31555706 31555706 single base substitution T C upstream_gene_variant LUSC-KR 22 31556035 31556035 single base substitution T C upstream_gene_variant LUSC-KR 22 31556103 31556103 single base substitution A G upstream_gene_variant LUSC-KR 22 31559332 31559332 single base substitution G T intron_variant LUSC-KR 22 31560361 31560361 single base substitution A G intron_variant LUSC-KR 22 31564185 31564185 single base substitution T A intron_variant LUSC-KR 22 31567146 31567146 single base substitution T C intron_variant LUSC-KR 22 31567225 31567225 single base substitution G T intron_variant LUSC-KR 22 31599341 31599341 single base substitution C T intron_variant LUSC-KR 22 31602587 31602587 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 31602587 31602587 single base substitution G A downstream_gene_variant LUSC-KR 22 31602587 31602587 single base substitution G A exon_variant LUSC-KR 22 31602602 31602602 single base substitution G A 3_prime_UTR_variant LUSC-KR 22 31602602 31602602 single base substitution G A downstream_gene_variant LUSC-KR 22 31602602 31602602 single base substitution G A exon_variant LUSC-KR 22 31602671 31602671 single base substitution C T 3_prime_UTR_variant LUSC-KR 22 31602671 31602671 single base substitution C T downstream_gene_variant LUSC-KR 22 31602671 31602671 single base substitution C T exon_variant LUSC-KR 22 31607021 31607021 single base substitution T C downstream_gene_variant LUSC-US 22 31600551 31600551 single base substitution G T exon_variant LUSC-US 22 31600551 31600551 single base substitution G T missense_variant M124I 372G>T LUSC-US 22 31600551 31600551 single base substitution G T missense_variant M130I 390G>T LUSC-US 22 31600551 31600551 single base substitution G T missense_variant M186I 558G>T MALY-DE 22 31553329 31553329 single base substitution C T upstream_gene_variant MALY-DE 22 31553355 31553355 single base substitution A T upstream_gene_variant MALY-DE 22 31557476 31557476 single base substitution C A intron_variant MALY-DE 22 31570910 31570910 single base substitution T A intron_variant MALY-DE 22 31582600 31582600 single base substitution A C intron_variant MALY-DE 22 31588781 31588781 single base substitution T A intron_variant MALY-DE 22 31593111 31593111 deletion of <=200bp A - downstream_gene_variant MALY-DE 22 31593111 31593111 deletion of <=200bp A - exon_variant MALY-DE 22 31593111 31593111 deletion of <=200bp A - intron_variant MALY-DE 22 31604801 31604801 single base substitution T C downstream_gene_variant MELA-AU 22 31551329 31551329 single base substitution G A upstream_gene_variant MELA-AU 22 31551378 31551378 single base substitution C T upstream_gene_variant MELA-AU 22 31551383 31551383 single base substitution G A upstream_gene_variant MELA-AU 22 31551748 31551748 single base substitution C T upstream_gene_variant MELA-AU 22 31551998 31551998 single base substitution G A upstream_gene_variant MELA-AU 22 31552141 31552141 single base substitution G A upstream_gene_variant MELA-AU 22 31552225 31552225 single base substitution C T upstream_gene_variant MELA-AU 22 31552395 31552396 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 31552400 31552400 single base substitution C T upstream_gene_variant MELA-AU 22 31552753 31552753 single base substitution G A upstream_gene_variant MELA-AU 22 31552829 31552829 single base substitution C T upstream_gene_variant MELA-AU 22 31553181 31553181 single base substitution C T upstream_gene_variant MELA-AU 22 31553528 31553528 single base substitution C T upstream_gene_variant MELA-AU 22 31553625 31553625 single base substitution C T upstream_gene_variant MELA-AU 22 31553653 31553653 single base substitution C T upstream_gene_variant MELA-AU 22 31553956 31553956 single base substitution G A upstream_gene_variant MELA-AU 22 31554253 31554253 single base substitution C T upstream_gene_variant MELA-AU 22 31554256 31554256 single base substitution G A upstream_gene_variant MELA-AU 22 31554511 31554511 single base substitution A G upstream_gene_variant MELA-AU 22 31554816 31554816 single base substitution C T upstream_gene_variant MELA-AU 22 31555447 31555447 single base substitution C G upstream_gene_variant MELA-AU 22 31555830 31555830 single base substitution G A upstream_gene_variant MELA-AU 22 31555976 31555976 single base substitution G A upstream_gene_variant MELA-AU 22 31556121 31556121 single base substitution C T upstream_gene_variant MELA-AU 22 31556124 31556124 single base substitution C T upstream_gene_variant MELA-AU 22 31556137 31556137 single base substitution G A upstream_gene_variant MELA-AU 22 31557219 31557219 single base substitution T C intron_variant MELA-AU 22 31557441 31557441 single base substitution C G intron_variant MELA-AU 22 31557720 31557720 single base substitution C T intron_variant MELA-AU 22 31557801 31557801 single base substitution C T intron_variant MELA-AU 22 31559035 31559035 single base substitution C T intron_variant MELA-AU 22 31559036 31559036 single base substitution C T intron_variant MELA-AU 22 31560059 31560059 single base substitution C A intron_variant MELA-AU 22 31560060 31560060 single base substitution C T intron_variant MELA-AU 22 31560246 31560246 single base substitution C T intron_variant MELA-AU 22 31560659 31560659 single base substitution C T intron_variant MELA-AU 22 31560893 31560893 single base substitution T A intron_variant MELA-AU 22 31562514 31562514 single base substitution C T intron_variant MELA-AU 22 31562970 31562970 single base substitution C T intron_variant MELA-AU 22 31562976 31562976 single base substitution C T intron_variant MELA-AU 22 31563202 31563202 single base substitution C T intron_variant MELA-AU 22 31563633 31563633 single base substitution C T intron_variant MELA-AU 22 31564000 31564001 multiple base substitution (>=2bp and <=200bp) AC CG intron_variant MELA-AU 22 31564187 31564187 single base substitution T A intron_variant MELA-AU 22 31564432 31564433 multiple base substitution (>=2bp and <=200bp) TT AC intron_variant MELA-AU 22 31565932 31565932 single base substitution C T intron_variant MELA-AU 22 31568429 31568429 single base substitution C T intron_variant MELA-AU 22 31568633 31568633 single base substitution G A intron_variant MELA-AU 22 31569261 31569261 single base substitution T C intron_variant MELA-AU 22 31569396 31569396 single base substitution C G intron_variant MELA-AU 22 31569402 31569402 single base substitution G C intron_variant MELA-AU 22 31569789 31569789 single base substitution G A intron_variant MELA-AU 22 31570641 31570642 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 31571553 31571554 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 31572942 31572942 single base substitution C T intron_variant MELA-AU 22 31573168 31573168 single base substitution C T intron_variant MELA-AU 22 31573435 31573435 single base substitution G A intron_variant MELA-AU 22 31573775 31573776 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 22 31573842 31573842 single base substitution C T intron_variant MELA-AU 22 31573866 31573866 single base substitution A G intron_variant MELA-AU 22 31574959 31574959 single base substitution C T intron_variant MELA-AU 22 31576730 31576730 single base substitution C T intron_variant MELA-AU 22 31576746 31576746 single base substitution C T intron_variant MELA-AU 22 31577337 31577337 single base substitution A G intron_variant MELA-AU 22 31577677 31577677 single base substitution C T intron_variant MELA-AU 22 31577798 31577798 single base substitution C T intron_variant MELA-AU 22 31578133 31578133 single base substitution T C intron_variant MELA-AU 22 31578639 31578639 single base substitution C T intron_variant MELA-AU 22 31579397 31579397 single base substitution C T intron_variant MELA-AU 22 31579730 31579730 single base substitution C T intron_variant MELA-AU 22 31580006 31580006 single base substitution C T intron_variant MELA-AU 22 31580256 31580256 single base substitution C T intron_variant MELA-AU 22 31580787 31580787 single base substitution G T intron_variant MELA-AU 22 31581670 31581670 single base substitution C T intron_variant MELA-AU 22 31582336 31582336 single base substitution C T intron_variant MELA-AU 22 31582594 31582594 insertion of <=200bp - AT intron_variant MELA-AU 22 31582766 31582766 single base substitution C A intron_variant MELA-AU 22 31583384 31583384 single base substitution C T intron_variant MELA-AU 22 31583907 31583907 single base substitution T G intron_variant MELA-AU 22 31584126 31584126 single base substitution A T intron_variant MELA-AU 22 31584856 31584856 single base substitution C T intron_variant MELA-AU 22 31585371 31585371 single base substitution G A intron_variant MELA-AU 22 31585832 31585833 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 31586355 31586355 single base substitution C T intron_variant MELA-AU 22 31586797 31586798 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 31587101 31587101 single base substitution C T intron_variant MELA-AU 22 31587538 31587538 single base substitution C T intron_variant MELA-AU 22 31588279 31588279 single base substitution C T intron_variant MELA-AU 22 31588340 31588340 single base substitution C T intron_variant MELA-AU 22 31588634 31588634 single base substitution C T intron_variant MELA-AU 22 31590416 31590416 single base substitution C G intron_variant MELA-AU 22 31590834 31590834 single base substitution G C intron_variant MELA-AU 22 31591052 31591052 single base substitution C T intron_variant MELA-AU 22 31591242 31591244 deletion of <=200bp ATG - intron_variant MELA-AU 22 31592156 31592156 single base substitution C T intron_variant MELA-AU 22 31592199 31592199 single base substitution C T intron_variant MELA-AU 22 31592247 31592248 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 31592513 31592513 single base substitution A T intron_variant MELA-AU 22 31592643 31592643 single base substitution G A intron_variant MELA-AU 22 31593033 31593033 single base substitution C T downstream_gene_variant MELA-AU 22 31593033 31593033 single base substitution C T exon_variant MELA-AU 22 31593033 31593033 single base substitution C T intron_variant MELA-AU 22 31593321 31593321 single base substitution C T downstream_gene_variant MELA-AU 22 31593321 31593321 single base substitution C T intron_variant MELA-AU 22 31594224 31594224 single base substitution C T downstream_gene_variant MELA-AU 22 31594224 31594224 single base substitution C T intron_variant MELA-AU 22 31594254 31594254 single base substitution C T downstream_gene_variant MELA-AU 22 31594254 31594254 single base substitution C T intron_variant MELA-AU 22 31594578 31594578 single base substitution T C downstream_gene_variant MELA-AU 22 31594578 31594578 single base substitution T C intron_variant MELA-AU 22 31594749 31594749 single base substitution C T downstream_gene_variant MELA-AU 22 31594749 31594749 single base substitution C T intron_variant MELA-AU 22 31596294 31596294 single base substitution G A downstream_gene_variant MELA-AU 22 31596294 31596294 single base substitution G A intron_variant MELA-AU 22 31596379 31596379 single base substitution C T downstream_gene_variant MELA-AU 22 31596379 31596379 single base substitution C T intron_variant MELA-AU 22 31596434 31596434 single base substitution C T downstream_gene_variant MELA-AU 22 31596434 31596434 single base substitution C T intron_variant MELA-AU 22 31597347 31597347 single base substitution C T downstream_gene_variant MELA-AU 22 31597347 31597347 single base substitution C T intron_variant MELA-AU 22 31597437 31597437 single base substitution G A downstream_gene_variant MELA-AU 22 31597437 31597437 single base substitution G A intron_variant MELA-AU 22 31597616 31597616 single base substitution C T downstream_gene_variant MELA-AU 22 31597616 31597616 single base substitution C T intron_variant MELA-AU 22 31598122 31598122 single base substitution C T intron_variant MELA-AU 22 31598708 31598708 single base substitution C T intron_variant MELA-AU 22 31598827 31598827 single base substitution C T intron_variant MELA-AU 22 31598858 31598858 single base substitution C T intron_variant MELA-AU 22 31599262 31599262 single base substitution C T intron_variant MELA-AU 22 31599604 31599604 single base substitution C T intron_variant MELA-AU 22 31599714 31599714 single base substitution T A intron_variant MELA-AU 22 31599949 31599949 single base substitution C T intron_variant MELA-AU 22 31600212 31600212 single base substitution C T intron_variant MELA-AU 22 31600262 31600262 single base substitution G T intron_variant MELA-AU 22 31600759 31600759 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31600759 31600759 single base substitution C T downstream_gene_variant MELA-AU 22 31600759 31600759 single base substitution C T exon_variant MELA-AU 22 31600839 31600839 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31600839 31600839 single base substitution C T downstream_gene_variant MELA-AU 22 31600839 31600839 single base substitution C T exon_variant MELA-AU 22 31601040 31601040 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31601040 31601040 single base substitution C T downstream_gene_variant MELA-AU 22 31601040 31601040 single base substitution C T exon_variant MELA-AU 22 31601040 31601040 single base substitution C T intron_variant MELA-AU 22 31601315 31601315 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31601315 31601315 single base substitution C T downstream_gene_variant MELA-AU 22 31601315 31601315 single base substitution C T exon_variant MELA-AU 22 31601315 31601315 single base substitution C T intron_variant MELA-AU 22 31601405 31601405 single base substitution C A 3_prime_UTR_variant MELA-AU 22 31601405 31601405 single base substitution C A downstream_gene_variant MELA-AU 22 31601405 31601405 single base substitution C A exon_variant MELA-AU 22 31601420 31601420 single base substitution G A 3_prime_UTR_variant MELA-AU 22 31601420 31601420 single base substitution G A downstream_gene_variant MELA-AU 22 31601420 31601420 single base substitution G A exon_variant MELA-AU 22 31601821 31601821 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31601821 31601821 single base substitution C T downstream_gene_variant MELA-AU 22 31601821 31601821 single base substitution C T exon_variant MELA-AU 22 31602060 31602060 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31602060 31602060 single base substitution C T downstream_gene_variant MELA-AU 22 31602060 31602060 single base substitution C T exon_variant MELA-AU 22 31602112 31602112 single base substitution T C 3_prime_UTR_variant MELA-AU 22 31602112 31602112 single base substitution T C downstream_gene_variant MELA-AU 22 31602112 31602112 single base substitution T C exon_variant MELA-AU 22 31602653 31602653 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31602653 31602653 single base substitution C T downstream_gene_variant MELA-AU 22 31602653 31602653 single base substitution C T exon_variant MELA-AU 22 31602757 31602757 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31602757 31602757 single base substitution C T downstream_gene_variant MELA-AU 22 31602757 31602757 single base substitution C T exon_variant MELA-AU 22 31602895 31602895 single base substitution C T 3_prime_UTR_variant MELA-AU 22 31602895 31602895 single base substitution C T downstream_gene_variant MELA-AU 22 31602895 31602895 single base substitution C T exon_variant MELA-AU 22 31604054 31604054 single base substitution G A downstream_gene_variant MELA-AU 22 31604642 31604642 single base substitution C T downstream_gene_variant MELA-AU 22 31604993 31604993 single base substitution C T downstream_gene_variant MELA-AU 22 31605262 31605262 single base substitution C T downstream_gene_variant MELA-AU 22 31605499 31605499 single base substitution C T downstream_gene_variant MELA-AU 22 31606342 31606342 single base substitution C T downstream_gene_variant MELA-AU 22 31606632 31606632 single base substitution G A downstream_gene_variant MELA-AU 22 31607021 31607021 single base substitution T C downstream_gene_variant MELA-AU 22 31607123 31607123 single base substitution C T downstream_gene_variant MELA-AU 22 31607306 31607306 single base substitution C T downstream_gene_variant MELA-AU 22 31607605 31607605 single base substitution C T downstream_gene_variant ORCA-IN 22 31569402 31569402 insertion of <=200bp - ACACACACAC intron_variant ORCA-IN 22 31577197 31577197 single base substitution G A intron_variant ORCA-IN 22 31582386 31582386 single base substitution A C intron_variant ORCA-IN 22 31600394 31600394 single base substitution G T intron_variant OV-AU 22 31572968 31572968 single base substitution G T intron_variant OV-AU 22 31575550 31575550 single base substitution A G intron_variant OV-AU 22 31580012 31580012 single base substitution A C intron_variant OV-AU 22 31581885 31581885 single base substitution A G intron_variant OV-AU 22 31591315 31591315 single base substitution G A intron_variant OV-AU 22 31592217 31592217 single base substitution C G intron_variant OV-AU 22 31599887 31599887 single base substitution T G intron_variant OV-US 22 31552241 31552241 single base substitution C T upstream_gene_variant PACA-AU 22 31552503 31552503 single base substitution G A upstream_gene_variant PACA-AU 22 31559643 31559646 deletion of <=200bp TTTA - intron_variant PACA-AU 22 31562722 31562722 single base substitution A C intron_variant PACA-AU 22 31567143 31567143 insertion of <=200bp - TTATTTATTTAT intron_variant PACA-AU 22 31569550 31569550 single base substitution C T intron_variant PACA-AU 22 31575460 31575460 single base substitution A G intron_variant PACA-AU 22 31576096 31576096 deletion of <=200bp G - intron_variant PACA-AU 22 31576890 31576891 deletion of <=200bp TC - intron_variant PACA-AU 22 31582593 31582593 single base substitution A T intron_variant PACA-AU 22 31592023 31592023 single base substitution C G intron_variant PACA-AU 22 31592919 31592919 single base substitution C T intron_variant PACA-AU 22 31592919 31592919 single base substitution C T splice_region_variant PACA-AU 22 31593111 31593111 deletion of <=200bp A - downstream_gene_variant PACA-AU 22 31593111 31593111 deletion of <=200bp A - exon_variant PACA-AU 22 31593111 31593111 deletion of <=200bp A - intron_variant PACA-AU 22 31596388 31596388 single base substitution T G downstream_gene_variant PACA-AU 22 31596388 31596388 single base substitution T G intron_variant PACA-AU 22 31599421 31599421 single base substitution C G intron_variant PACA-AU 22 31602672 31602672 single base substitution G A 3_prime_UTR_variant PACA-AU 22 31602672 31602672 single base substitution G A downstream_gene_variant PACA-AU 22 31602672 31602672 single base substitution G A exon_variant PACA-AU 22 31607329 31607329 single base substitution G A downstream_gene_variant PACA-CA 22 31551371 31551371 single base substitution T G upstream_gene_variant PACA-CA 22 31554556 31554556 single base substitution G A upstream_gene_variant PACA-CA 22 31557267 31557267 single base substitution A T intron_variant PACA-CA 22 31558836 31558836 single base substitution C T intron_variant PACA-CA 22 31559682 31559682 single base substitution C T intron_variant PACA-CA 22 31562873 31562873 single base substitution C T intron_variant PACA-CA 22 31568272 31568272 single base substitution G A intron_variant PACA-CA 22 31582593 31582593 single base substitution A T intron_variant PACA-CA 22 31583599 31583599 single base substitution T G intron_variant PACA-CA 22 31585832 31585832 single base substitution G A intron_variant PACA-CA 22 31590072 31590072 single base substitution C T intron_variant PACA-CA 22 31591042 31591042 single base substitution G C intron_variant PACA-CA 22 31592446 31592446 single base substitution G T intron_variant PACA-CA 22 31597500 31597500 single base substitution G A downstream_gene_variant PACA-CA 22 31597500 31597500 single base substitution G A exon_variant PACA-CA 22 31597500 31597500 single base substitution G A missense_variant G127E 380G>A PACA-CA 22 31597500 31597500 single base substitution G A missense_variant G65E 194G>A PACA-CA 22 31597500 31597500 single base substitution G A missense_variant G71E 212G>A PACA-CA 22 31598198 31598198 single base substitution C T intron_variant PACA-CA 22 31599724 31599724 single base substitution T C intron_variant PACA-CA 22 31600283 31600283 single base substitution C T intron_variant PAEN-AU 22 31556202 31556202 single base substitution T G 5_prime_UTR_variant PAEN-AU 22 31556202 31556202 single base substitution T G exon_variant PAEN-AU 22 31556202 31556202 single base substitution T G upstream_gene_variant PAEN-AU 22 31564670 31564670 single base substitution C T intron_variant PAEN-AU 22 31607942 31607942 single base substitution C T downstream_gene_variant PAEN-IT 22 31555756 31555756 single base substitution T G upstream_gene_variant PAEN-IT 22 31564969 31564969 single base substitution C G intron_variant PAEN-IT 22 31596483 31596483 single base substitution A T downstream_gene_variant PAEN-IT 22 31596483 31596483 single base substitution A T intron_variant PBCA-DE 22 31554539 31554539 single base substitution C T upstream_gene_variant PBCA-DE 22 31555346 31555346 single base substitution G A upstream_gene_variant PBCA-DE 22 31557184 31557187 deletion of <=200bp AATG - intron_variant PBCA-DE 22 31576103 31576103 single base substitution T G intron_variant PBCA-DE 22 31582645 31582645 single base substitution G C intron_variant PBCA-DE 22 31582646 31582646 single base substitution A T intron_variant PBCA-DE 22 31584206 31584206 single base substitution G C intron_variant PBCA-DE 22 31585670 31585670 single base substitution C T intron_variant PBCA-DE 22 31586374 31586374 single base substitution A T intron_variant PRAD-CA 22 31555995 31555995 single base substitution G T upstream_gene_variant PRAD-CA 22 31575537 31575537 single base substitution G T intron_variant PRAD-UK 22 31580345 31580345 single base substitution G A intron_variant PRAD-UK 22 31604745 31604745 single base substitution G A downstream_gene_variant READ-US 22 31583191 31583191 single base substitution C T exon_variant READ-US 22 31583191 31583191 single base substitution C T intron_variant READ-US 22 31583191 31583191 single base substitution C T missense_variant S13L 38C>T READ-US 22 31583191 31583191 single base substitution C T synonymous_variant F37F 111C>T RECA-EU 22 31555699 31555699 single base substitution T C upstream_gene_variant RECA-EU 22 31555706 31555706 single base substitution T C upstream_gene_variant RECA-EU 22 31555708 31555708 single base substitution T C upstream_gene_variant RECA-EU 22 31563856 31563856 single base substitution C T intron_variant RECA-EU 22 31567946 31567946 single base substitution C T intron_variant RECA-EU 22 31574599 31574599 single base substitution C T intron_variant RECA-EU 22 31583850 31583850 single base substitution G A intron_variant RECA-EU 22 31593956 31593956 single base substitution T A downstream_gene_variant RECA-EU 22 31593956 31593956 single base substitution T A intron_variant SKCA-BR 22 31552693 31552693 single base substitution G A upstream_gene_variant SKCA-BR 22 31553132 31553132 single base substitution C T upstream_gene_variant SKCA-BR 22 31555695 31555698 deletion of <=200bp CTCT - upstream_gene_variant SKCA-BR 22 31556121 31556121 single base substitution C T upstream_gene_variant SKCA-BR 22 31556124 31556124 single base substitution C T upstream_gene_variant SKCA-BR 22 31558748 31558748 single base substitution C T intron_variant SKCA-BR 22 31559642 31559642 insertion of <=200bp - TTTTATTTATTTA intron_variant SKCA-BR 22 31561107 31561107 single base substitution T C intron_variant SKCA-BR 22 31562544 31562544 insertion of <=200bp - TTTC intron_variant SKCA-BR 22 31567142 31567142 insertion of <=200bp - CTTATTTATTTATTTAT intron_variant SKCA-BR 22 31567146 31567146 single base substitution T C intron_variant SKCA-BR 22 31568291 31568291 single base substitution T A intron_variant SKCA-BR 22 31569585 31569585 single base substitution G A intron_variant SKCA-BR 22 31571994 31571994 single base substitution C T intron_variant SKCA-BR 22 31572415 31572415 single base substitution C T intron_variant SKCA-BR 22 31572863 31572863 single base substitution T G intron_variant SKCA-BR 22 31576110 31576110 single base substitution T G intron_variant SKCA-BR 22 31576889 31576891 deletion of <=200bp TTC - intron_variant SKCA-BR 22 31578127 31578127 single base substitution C T intron_variant SKCA-BR 22 31578722 31578722 single base substitution C T intron_variant SKCA-BR 22 31580933 31580933 single base substitution A G intron_variant SKCA-BR 22 31580966 31580966 insertion of <=200bp - AT intron_variant SKCA-BR 22 31584878 31584878 single base substitution G T intron_variant SKCA-BR 22 31585121 31585121 insertion of <=200bp - ATATGTGTGTGTGTG intron_variant SKCA-BR 22 31586512 31586512 single base substitution A G intron_variant SKCA-BR 22 31588467 31588467 single base substitution T C intron_variant SKCA-BR 22 31590439 31590439 single base substitution G A intron_variant SKCA-BR 22 31598052 31598052 single base substitution C T intron_variant SKCA-BR 22 31598593 31598596 deletion of <=200bp CTTT - intron_variant SKCA-BR 22 31600033 31600033 single base substitution G A intron_variant SKCA-BR 22 31600115 31600115 single base substitution G A intron_variant SKCA-BR 22 31600202 31600202 single base substitution A G intron_variant SKCA-BR 22 31604701 31604701 single base substitution C T downstream_gene_variant SKCA-BR 22 31606278 31606278 single base substitution C T downstream_gene_variant SKCM-US 22 31592963 31592963 single base substitution C T exon_variant SKCM-US 22 31592963 31592963 single base substitution C T intron_variant SKCM-US 22 31592963 31592963 single base substitution C T missense_variant P117L 350C>T SKCM-US 22 31592963 31592963 single base substitution C T missense_variant P55L 164C>T SKCM-US 22 31597595 31597595 single base substitution C T downstream_gene_variant SKCM-US 22 31597595 31597595 single base substitution C T exon_variant SKCM-US 22 31597595 31597595 single base substitution C T missense_variant P103S 307C>T SKCM-US 22 31597595 31597595 single base substitution C T missense_variant P159S 475C>T SKCM-US 22 31597595 31597595 single base substitution C T missense_variant P97S 289C>T SKCM-US 22 31600480 31600480 single base substitution C T exon_variant SKCM-US 22 31600480 31600480 single base substitution C T missense_variant P101S 301C>T SKCM-US 22 31600480 31600480 single base substitution C T missense_variant P107S 319C>T SKCM-US 22 31600480 31600480 single base substitution C T missense_variant P163S 487C>T SKCM-US 22 31600528 31600528 single base substitution C T exon_variant SKCM-US 22 31600528 31600528 single base substitution C T synonymous_variant L117L 349C>T SKCM-US 22 31600528 31600528 single base substitution C T synonymous_variant L123L 367C>T SKCM-US 22 31600528 31600528 single base substitution C T synonymous_variant L179L 535C>T SKCM-US 22 31600560 31600560 single base substitution C T downstream_gene_variant SKCM-US 22 31600560 31600560 single base substitution C T exon_variant SKCM-US 22 31600560 31600560 single base substitution C T synonymous_variant L127L 381C>T SKCM-US 22 31600560 31600560 single base substitution C T synonymous_variant L133L 399C>T SKCM-US 22 31600560 31600560 single base substitution C T synonymous_variant L189L 567C>T STAD-US 22 31583100 31583100 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 22 31583100 31583100 single base substitution C T exon_variant STAD-US 22 31583100 31583100 single base substitution C T intron_variant STAD-US 22 31583100 31583100 single base substitution C T missense_variant S7L 20C>T STAD-US 22 31583132 31583132 insertion of <=200bp - G 5_prime_UTR_variant STAD-US 22 31583132 31583132 insertion of <=200bp - G exon_variant STAD-US 22 31583132 31583132 insertion of <=200bp - G frameshift_variant G18G? STAD-US 22 31583132 31583132 insertion of <=200bp - G intron_variant THCA-SA 22 31602587 31602587 single base substitution G A 3_prime_UTR_variant THCA-SA 22 31602587 31602587 single base substitution G A downstream_gene_variant THCA-SA 22 31602587 31602587 single base substitution G A exon_variant THCA-SA 22 31602602 31602602 single base substitution G A 3_prime_UTR_variant THCA-SA 22 31602602 31602602 single base substitution G A downstream_gene_variant THCA-SA 22 31602602 31602602 single base substitution G A exon_variant THCA-SA 22 31602772 31602772 single base substitution C T 3_prime_UTR_variant THCA-SA 22 31602772 31602772 single base substitution C T downstream_gene_variant THCA-SA 22 31602772 31602772 single base substitution C T exon_variant UCEC-US 22 31552503 31552503 single base substitution G A upstream_gene_variant UCEC-US 22 31552529 31552529 single base substitution C T upstream_gene_variant UCEC-US 22 31583228 31583228 single base substitution G A exon_variant UCEC-US 22 31583228 31583228 single base substitution G A intron_variant UCEC-US 22 31583228 31583228 single base substitution G A missense_variant V50I 148G>A UCEC-US 22 31583228 31583228 single base substitution G A synonymous_variant P25P 75G>A UCEC-US 22 31600506 31600506 single base substitution G A exon_variant UCEC-US 22 31600506 31600506 single base substitution G A synonymous_variant E109E 327G>A UCEC-US 22 31600506 31600506 single base substitution G A synonymous_variant E115E 345G>A UCEC-US 22 31600506 31600506 single base substitution G A synonymous_variant E171E 513G>A UCEC-US 22 31600834 31600834 insertion of <=200bp - G 3_prime_UTR_variant UCEC-US 22 31600834 31600834 insertion of <=200bp - G downstream_gene_variant UCEC-US 22 31600834 31600834 insertion of <=200bp - G exon_variant UCEC-US 22 31601135 31601135 single base substitution A C 3_prime_UTR_variant UCEC-US 22 31601135 31601135 single base substitution A C downstream_gene_variant UCEC-US 22 31601135 31601135 single base substitution A C exon_variant UCEC-US 22 31601135 31601135 single base substitution A C intron_variant UCEC-US 22 31601193 31601193 single base substitution G T 3_prime_UTR_variant UCEC-US 22 31601193 31601193 single base substitution G T downstream_gene_variant UCEC-US 22 31601193 31601193 single base substitution G T exon_variant UCEC-US 22 31601193 31601193 single base substitution G T intron_variant UCEC-US 22 31601284 31601284 single base substitution G T 3_prime_UTR_variant UCEC-US 22 31601284 31601284 single base substitution G T downstream_gene_variant UCEC-US 22 31601284 31601284 single base substitution G T exon_variant UCEC-US 22 31601284 31601284 single base substitution G T intron_variant UCEC-US 22 31601320 31601320 single base substitution A G 3_prime_UTR_variant UCEC-US 22 31601320 31601320 single base substitution A G downstream_gene_variant UCEC-US 22 31601320 31601320 single base substitution A G exon_variant UCEC-US 22 31601320 31601320 single base substitution A G intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EK-A2H0-01 COSM4819018 c.339G>C p.Q113H Substitution - Missense 22:31196966-31196966 + ESCC_BICR_060T COSM5435046 c.28G>A p.A10T Substitution - Missense 22:31187122-31187122 + TCGA-36-2548-01 COSM1327268 c.483T>A p.A161A Substitution - coding silent 22:31204490-31204490 + Gp5D COSM2938008 c.159delG p.C54fs*100 Deletion - Frameshift 22:31187253-31187253 + Gp2D COSM2938008 c.159delG p.C54fs*100 Deletion - Frameshift 22:31187253-31187253 + Pat_02_B COSM3553530 c.487C>T p.P163S Substitution - Missense 22:31204494-31204494 + CHC892T COSM4958720 c.14G>A p.G5E Substitution - Missense 22:31187108-31187108 + LUAD-F00162 COSM366411 c.100G>A p.D34N Substitution - Missense 22:31187194-31187194 + TCGA-FS-A4F8-06 COSM3553530 c.487C>T p.P163S Substitution - Missense 22:31204494-31204494 + ESO-085 COSM1264369 c.374G>A p.G125E Substitution - Missense 22:31201508-31201508 + CSCC-40-T COSM4450279 c.52delG p.S21fs*133 Deletion - Frameshift 22:31187146-31187146 + HCA7 COSM4450279 c.52delG p.S21fs*133 Deletion - Frameshift 22:31187146-31187146 + 66 COSM5744089 c.293G>T p.G98V Substitution - Missense 22:31195566-31195566 + RK183_C01 COSM3740399 c.195+10A>G p.? Unknown 22:31192712-31192712 + HCT8 COSM4634765 c.78C>T p.G26G Substitution - coding silent 22:31187172-31187172 + I2L-P7-Tumor-Organoid COSM4450279 c.52delG p.S21fs*133 Deletion - Frameshift 22:31187146-31187146 + TCGA-AP-A0LM-01 COSM1033409 c.148G>A p.V50I Substitution - Missense 22:31187242-31187242 + TCGA-D3-A3ML-06 COSM3553531 c.535C>T p.L179L Substitution - coding silent 22:31204542-31204542 + TCGA-AP-A056-01 COSM1033410 c.513G>A p.E171E Substitution - coding silent 22:31204520-31204520 + Pat_06_A COSM5859194 c.180G>A p.W60* Substitution - Nonsense 22:31192687-31192687 + TCGA-AA-3710-01 COSM293574 c.281G>T p.R94M Substitution - Missense 22:31195554-31195554 + TCGA-F5-6814-01 COSM3424115 c.111C>T p.F37F Substitution - coding silent 22:31187205-31187205 + 8061176 COSM3390175 c.309-3C>T p.? Unknown 22:31196933-31196933 + TCGA-A7-A5ZV-01 COSM3842506 c.510C>G p.D170E Substitution - Missense 22:31204517-31204517 + TCGA-B7-5816-01 COSM4103553 c.20C>T p.S7L Substitution - Missense 22:31187114-31187114 + CHC892T COSM4958720 c.14G>A p.G5E Substitution - Missense 22:31187108-31187108 + 587228 COSM164057 c.325C>T p.R109C Substitution - Missense 22:31196952-31196952 + cSCCP6 COSM137244 c.434G>T p.G145V Substitution - Missense 22:31201568-31201568 + TCGA-IH-A3EA-01 COSM3553529 c.475C>T p.P159S Substitution - Missense 22:31201609-31201609 + YURAY COSM5393439 c.305C>T p.P102L Substitution - Missense 22:31195578-31195578 + LUAD-F00282 COSM367320 c.54G>T p.G18G Substitution - coding silent 22:31187148-31187148 + CDGLIV0609A0138_T COSM5041825 c.46A>T p.S16C Substitution - Missense 22:31187140-31187140 + PCSI_0108_Pa_P_526 COSM4962249 c.380G>A p.G127E Substitution - Missense 22:31201514-31201514 + PD4203a COSM164057 c.325C>T p.R109C Substitution - Missense 22:31196952-31196952 + TCGA-BF-A3DM-01 COSM3912648 c.567C>T p.L189L Substitution - coding silent 22:31204574-31204574 + TCGA-ER-A42K-06 COSM2938012 c.350C>T p.P117L Substitution - Missense 22:31196977-31196977 + 587288 COSM1223947 c.91G>A p.G31R Substitution - Missense 22:31187185-31187185 + TCGA-66-2785-01 COSM726613 c.558G>T p.M186I Substitution - Missense 22:31204565-31204565 + EGC15 COSM5057772 c.448G>A p.A150T Substitution - Missense 22:31201582-31201582 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517553 22q12.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.576+751A>G 22 31601320 UCEC C G Missense p.Q111E c.331C>G 22 31592944 HNSC C T Missense p.P159S c.475C>T 22 31597595 CM C T Missense p.R109C c.325C>T 22 31592938 BRCA C T Missense p.S7L c.20C>T 22 31583100 STAD C T Synonymous p.L179L c.535C>T 22 31600528 CM C T Synonymous p.L189L c.567C>T 22 31600560 CM G A Missense p.G125E c.374G>A 22 31597494 ESCA G T 3-UTRSNV . c.576+715G>T 22 31601284 UCEC G T Missense p.G140V c.419G>T 22 31597539 LUAD T A Missense p.C39S c.115T>A 22 31583195 LUAD